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    Participation of children with intellectual disability compared with typically developing children. King Matthew,Shields Nora,Imms Christine,Black Monique,Ardern Clare Research in developmental disabilities We compared participation in out-of-school activities between children with intellectual disability and children with typical development using the Children's Assessment of Participation and Enjoyment and Preferences for Activities of Children questionnaires. Thirty-eight pairs of children were matched for age (mean age 12.3 ± 2.7 years), sex (17 female, 21 male), location (32 metropolitan, 6 regional) and socioeconomic background (mean SEIFA score 1021 ± 70 and 1024 ± 66). When compared to their typically developing peers, children with intellectual disability participated in fewer Active-Physical and Skill-Based activities and in more Recreational activities. Children with intellectual disability participated less frequently in Skilled-Based activities, had a higher preference for Recreational and Self-Improvement activities, enjoyed Self-Improvement activities more, and participated in a higher proportion of Social activities at home and in a lower proportion of Recreational, Active-Physical, Skill-Based, and Self-Improvement activities alone. These differences may be due to reduced physical, cognitive and social skills in children with intellectual disability, or a lack of supportive environments. 10.1016/j.ridd.2013.02.029
    [Application of chromosomal microarray analysis for the diagnosis of children with intellectual disability/developmental delay and a normal karytype]. Hu Ting,Zhu Hongmei,Zhang Zhu,Wang Jiamin,Liu Hongqian,Zhang Xuemei,Zhang Haixia,Du Ze,Li Lingping,Wang He,Liu Shanling Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics OBJECTIVE:To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype. METHODS:Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software. RESULTS:Eighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes. These included 2 Williams-Beuren syndromes, 2 Angelman syndromes, 2 Russell-Silver syndromes, 1 Smith-Magenis syndromes, 1 Wolf-Hirschhorn syndromes, 1 15q26 overgrowth syndrome and 1 Xq28 (MECP2) duplication syndrome. In addition, 8 cases were diagnosed with pathogenic copy number variations (pCNV). CONCLUSION:CMA can significantly improve the diagnostic rate for patients with ID/DD, which is of great value for the treatment of such children and guidance of reproduction for their parents. Therefore, CMA should become the first-line diagnostic test for patients with ID/DD. 10.3760/cma.j.issn.1003-9406.2017.02.003
    A new scale for the measurement of quality of life in children with intellectual disability. Gómez Laura E,Alcedo M Ángeles,Arias Benito,Fontanil Yolanda,Arias Víctor B,Monsalve Asunción,Verdugo Miguel Ángel Research in developmental disabilities BACKGROUND:Children and adolescents with intellectual disabilities make up a group which is in urgent need of an adequate operationalisation of the quality of life construct, not only to improve individual personal outcomes but also to develop and implement evidence based practices. For that reason, and with the aim of answering the growing demand for an adequate evaluation instrument for this group, the KidsLife scale was developed. METHOD:This research provides evidence of the reliability and validity of the scale, which is composed of 96 items spread over eight subscales, and completed by a third-party respondent. The validation sample comprised 1060 people with intellectual disability, with ages ranging from 4 to 21 years old (M=13.51; SD=5.04). RESULTS:The results suggest that the eight quality of life domains assessed on the scale are reliable (Cronbach's alpha ranging from 0.812 to 0.949). The evidence of the validity of the construct provided by Confirmatory Factor Analysis also demonstrated adequate indexes of fit for the eight-domain model. DISCUSSION:Future lines of research which may use the KidsLife Scale are suggested and discussed. 10.1016/j.ridd.2016.03.005
    Intellectual disability in children with attention deficit hyperactivity disorder. Ahuja Alka,Martin Joanna,Langley Kate,Thapar Anita The Journal of pediatrics OBJECTIVE:To determine whether children with attention deficit hyperactivity disorder (ADHD) and mild intellectual disability (ID) are a clinically distinct ADHD subgroup. STUDY DESIGN:This was a cross-sectional study comparing clinical characteristics (ADHD subtypes, total number of symptoms, and rates of common comorbidities) between children with ADHD and mild ID and those with ADHD and IQ test scores >70, and also between children with ADHD and ID and a general population sample of children with ID alone. The sample comprised a clinical sample of children with ADHD with ID (n = 97) and without ID (n = 874) and a general population sample of children with ID and without ADHD (n = 58). RESULTS:After correcting for multiple statistical tests, no differences were found between the 2 ADHD groups on any measure except the presence of conduct disorder (CD) symptoms and diagnoses. Children with ADHD and ID had higher rates of both (OR, 2.38; 95% CI, 1.71-3.32 and OR, 2.69; 95% CI, 1.69-4.28, respectively). Furthermore, children with ADHD and ID had significantly higher rates of oppositional defiant disorder (OR, 5.54; 95% CI, 2.86-10.75) and CD (OR, 13.66; 95% CI, 3.25-57.42) symptoms and a higher incidence of oppositional defiant disorder diagnoses (OR, 30.99; 95% CI, 6.38-150.39) compared with children with ID without ADHD. CONCLUSION:Children with ADHD and mild ID appear to be clinically typical of children with ADHD except for more conduct problems. This finding has implications for clinicians treating these children in terms of acknowledging the presence and impact of ADHD symptoms above and beyond ID and dealing with a comorbid CD. 10.1016/j.jpeds.2013.02.043
    Intellectual disability in children and teenagers: Influence on family and family health. Systematic review. Lima-Rodríguez Joaquín Salvador,Baena-Ariza María Teresa,Domínguez-Sánchez Isabel,Lima-Serrano Marta Enfermeria clinica (English Edition) OBJECTIVE:To examine the influence of a child or adolescent with intellectual disabilities on the family unit. METHOD:A systematic review of the literature, following the recommendations of the PRISMA statement, was carried out on the PubMed, Scopus, CINAHL, PsycINFO and Psicodoc databases. Original articles were found, published in the last 5 years, in Spanish, English, Portuguese, Italian or French, with summary and full text and satisfactory or good methodological quality. Two independent researchers agreed on their decisions. RESULTS:In general, care is provided in the family, mothers assume the greater responsibility, and their wellbeing is lower than that of fathers. Having the support of the husband improves their quality of life. The fraternal subsystem can be affected, with regard to the warmth and the status/power of the relationship, and behavioural problems. Family health may be affected in all its dimensions: family functioning and atmosphere due to increased demands and changes in the organisation and distribution of roles; family resilience and family coping, due to rising costs and dwindling resources; family integrity could be strengthened by strengthened family ties. Quality of family life is enhanced by emotional support. CONCLUSIONS:These families may need individualised attention due to the increased demand for care, diminishing resources or other family health problems. Nurses using a family-centred care approach can identify these families and help them to normalise their situation by promoting their family health and the well-being of its members. 10.1016/j.enfcli.2017.10.005
    Attention Span of Children With Mild Intellectual Disability: Does Music Therapy and Pictorial Illustration Play Any Significant Role? Jacob Udeme Samuel,Pillay Jace,Oyefeso Esther Olufunke Frontiers in psychology This study investigated the effects of music therapy and pictorial illustration on the attention span of children with mild intellectual difficulties. A pre-test, post-test and control group quasi-experimental research design was used with a sample of children diagnosed with mild intellectual disability from three special schools in Ibadan, Nigeria. Fifty children were randomly selected and assigned to one of three groups: music therapy, pictorial illustration, or control ( = 50, male = 25, female = 25, mean age = 11.6 years). Twenty-four sessions of music therapy and pictorial illustration classes were held with the experimental group only. The Moss Attention Rating Scale was used before and after the intervention to collect data on participants' attention span. Analysis of Covariance indicated that there was a significant statistical difference between pre-test and post-test results of the two groups. The estimated marginal means of post-attention span by treatment indicated that pictorial illustration had the highest post-attention span score, followed by music therapy, while post-attention span score for the control group was the least. Based on the findings, it is recommended that teachers, caregivers, and parents of children with mild intellectual disability adopt pictorial illustration and music therapy as teaching strategies to enhance their attention span. 10.3389/fpsyg.2021.677703
    Genomic diagnosis for children with intellectual disability and/or developmental delay. Bowling Kevin M,Thompson Michelle L,Amaral Michelle D,Finnila Candice R,Hiatt Susan M,Engel Krysta L,Cochran J Nicholas,Brothers Kyle B,East Kelly M,Gray David E,Kelley Whitley V,Lamb Neil E,Lose Edward J,Rich Carla A,Simmons Shirley,Whittle Jana S,Weaver Benjamin T,Nesmith Amy S,Myers Richard M,Barsh Gregory S,Bebin E Martina,Cooper Gregory M Genome medicine BACKGROUND:Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios. METHODS:Whole-exome sequences (WES) were generated for 365 individuals (127 affected) and whole-genome sequences (WGS) were generated for 612 individuals (244 affected). RESULTS:Pathogenic or likely pathogenic variants were found in 100 individuals (27%), with variants of uncertain significance in an additional 42 (11.3%). We found that a family history of neurological disease, especially the presence of an affected first-degree relative, reduces the pathogenic/likely pathogenic variant identification rate, reflecting both the disease relevance and ease of interpretation of de novo variants. We also found that improvements to genetic knowledge facilitated interpretation changes in many cases. Through systematic reanalyses, we have thus far reclassified 15 variants, with 11.3% of families who initially were found to harbor a VUS and 4.7% of families with a negative result eventually found to harbor a pathogenic or likely pathogenic variant. To further such progress, the data described here are being shared through ClinVar, GeneMatcher, and dbGaP. CONCLUSIONS:Our data strongly support the value of large-scale sequencing, especially WGS within proband-parent trios, as both an effective first-choice diagnostic tool and means to advance clinical and research progress related to pediatric neurological disease. 10.1186/s13073-017-0433-1
    [Clinical and genetic analysis of a child with mental retardation and microcephaly with pontine and cerebellar hypoplasia]. Wang Ziwei,Li Chuang,Zhao Yan,Li Ling,Lyu Yuan,Cui Hong Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics OBJECTIVE:To analyze the clinical phenotype and pathogenic variant in a child diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). METHODS:Clinical phenotype of the child was reviewed. Whole exome sequencing was carried out for the child. Candidate variant was verified by Sanger sequencing of the family member. RESULTS:The proband manifested dyskinesia, development delay, cerebellar hypoplasia and bilateral hearing impairment. WES results revealed that the proband has carried a pathogenic c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene, which was verified by Sanger sequencing to be a de novo variant. CONCLUSION:The c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene probably underlay the MICPCH in the proband. Above finding has provided a basis for genetic counseling. WES should be considered for the diagnosis of neurological dysplasia. 10.3760/cma.j.cn511374-20200714-00514
    The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children. Bartnik Magdalena,Wiśniowiecka-Kowalnik Barbara,Nowakowska Beata,Smyk Marta,Kędzior Marta,Sobecka Katarzyna,Kutkowska-Kaźmierczak Anna,Klapecki Jakub,Szczałuba Krzysztof,Castañeda Jennifer,Własienko Paweł,Bezniakow Natalia,Obersztyn Ewa,Bocian Ewa Developmental period medicine INTRODUCTION:Intellectual disability (ID)/Developmental delay (DD), which occurs in 1-3% of the population, accounts for a large number of cases regularly seen in genetics clinics. Currently, Array Comparative Genomic Hybridization (array CGH) is recommended by the International Standards for Cytogenomic Arrays (ISCA) Consortium as a first line test in the diagnostics of ID/DD, replacing G-banded chromosome analysis. THE AIM:Application of array CGH in clinical diagnostics of developmental delay/ intellectual disability in children. MATERIAL AND METHODS:We present the results of 8x60K oligonucleotide array application that was successfully implemented in a cohort of 112 patients with the clinical diagnosis of intellectual disability and accompanying dysmorphic features and/or congenital malformations. RESULTS:We have identified 37 copy number variants (CNVs) with the size ranging from 40 kb to numerical chromosomal aberrations, including unbalanced translocations and chromosome Y disomy, receiving an overall diagnostic yield of 33%. Known pathogenic changes were identified in 21.4% of the cases. Among patients with pathogenic CNVs identified by array CGH, 41.7% had a previously normal karyotype analysis. CONCLUSIONS:Our studies provide more insights into the benefits derived by using chromosomal microarray analysis and demonstrate the usefulness of array CGH as a first-tier clinical setting test in patients with intellectual disability.
    A Comparison of Two Methods for Recruiting Children with an Intellectual Disability. Adams Dawn,Handley Louise,Heald Mary,Simkiss Doug,Jones Alison,Walls Emily,Oliver Chris Journal of applied research in intellectual disabilities : JARID BACKGROUND:Recruitment is a widely cited barrier of representative intellectual disability research, yet it is rarely studied. This study aims to document the rates of recruiting children with intellectual disabilities using two methods and discuss the impact of such methods on sample characteristics. METHODS:Questionnaire completion rates are compared between (i) participants being approached in child development centre waiting rooms and (ii), one year later, the same participants being invited to take part by phone, email and/or post. RESULTS:The face-to-face recruitment method resulted in a better recruitment rate (58.5% compared to 18.5%) and a larger sample (n = 438) than the telephone/email/post sample (n = 40). It also required less hours of researcher time per completed questionnaire. CONCLUSIONS:In-line with previous research, recruitment of participants with intellectual disabilities (or their parents/carers) requires significant time and resources to get a sample of an acceptable size. 10.1111/jar.12263
    Monitoring of cognitive state on mental retardation child using EEG, ECG and NIRS in four years study. Zennifa Fadilla,Ide Junko,Noguchi Yukio,Iramina Keiji Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference In this study, a monitoring system of cognitive state in usual behavior without restraint using wireless EEG, ECG and NIRS on developmental disorder children such as mental retardation was developed. By using this system we would like to investigate the education training effect on cognitive state in a mental retardation child in four years. The aim of special education is to make adaptations, accommodations and modification that allow a child with a mental retardation to succeed in classroom. This education training separated into two systems, resting state and studying state. After the measurement, we calculated the EEG power spectrum of alpha, theta bands and the low frequency power (LF), high frequency power (HF), and LH/HF value from the RR interval in ECG. At the same time we calculated the changes in concentration of oxyhemoglobin ([oxy-Hb]). The result in studying state showed theta power is lower than beta power in study state in the other hand beta power is lower than theta power in resting state From LF/HF activity we could know that sympathetic activity is increasing and from the result that has obtained from ECG, the parasympathetic activity is decreasing the time. NIRS showed the increasing in study states and decreasing in resting states at Fp2 area from oxyhemoglobin analysis. 10.1109/EMBC.2015.7319908
    Family Quality of Life and Its Correlates Among Parents of Children and Adults With Intellectual Disability. Boehm Thomas L,Carter Erik W American journal on intellectual and developmental disabilities All families, including those impacted by disability, desire and deserve opportunities for high quality of life. This study focused on family quality of life (FQOL) among 529 parents with children or adults with intellectual disability (ID). Parents reported moderate to high levels of FQOL satisfaction, with some variability across domains. We conducted hierarchical linear regression analyses to examine associations among FQOL and: (1) individual and family demographic factors, (2) religiosity/spirituality factors, and (3) relationship factors. Findings highlighted the significance of both informal (i.e., family, friends) and formal (i.e., professional) social relationships, as well as the relevance of spirituality/religiosity, as factors contributing to FQOL. We offer recommendations for research and practice aimed at enhancing FQOL of parents with children and adults who have ID. 10.1352/1944-7558-124.2.99
    [Clinical efficacy on mental retardation in the children treated with JIN's three scalp needling therapy and the training for cognitive and perceptual disturbance]. Huang Xiurong,Yuan Qing,Luo Qiuyan,Zeng Haihui,Zheng Xuanxian,Huang Xiaona,Yu Yutian,Wu Yuncai Zhongguo zhen jiu = Chinese acupuncture & moxibustion OBJECTIVE:To explore the impacts on the cognitive level of the children with mental retardation (MR) treated with JIN's three scalp needling therapy and the training for cognitive and perceptual disturbance so as to seek the more effective therapeutic method for the treatment of MR in children. Methods Sixty-six MR children were randomized into a head-point needle-retaining therapy + training group (group A) and a training after acupuncture group (group B). Seven cases and 12 cases were dropped in the two groups respectively. Twenty-six cases accomplished the treatment in the group A and 21 cases in the group B. In the group A, the points on the head were stimulated and the needles were retained (30 min after the general acupuncture, the needles on the body points were removed; and those on the head points were retained for 1 h, including Sishenzhen, Naosanzhen, Zhisanzhen and Niesanzhen). Simultaneously, the training for the cognitive perceptual disturbance was combined. In the group B, 1 h after needle retaining at the body points and head points, all the needles were removed; the training for the cognitive perceptual disturbance was followed. The treatment was given once a day, and the treatment for 3 months was required. Before and after treatment, the Wechsler intelligence scale for children (WISC) was used for evaluation and observation of verbal intelligence quotient (VIQ) , performance intelligence quotient (PIQ) and full-scale intelligence quotient (TFIQ) and score changes of 11 items such as information, picture vocabu; lary, arithmetic, picture generalization, comprehension, etc. RESULTS:After treatment, FIQ, VIQ and PIQ scores were different significantly as compared with those before treatment (all P<0. 01). In the group A, the results of picture vocabulary, animal egg laying, maze, block design and geometric figure were all improved significantly (all P<0. 05). In the group B, the results of information, comprehension, block design and geometric figure were all improved significantly (all P<0. 05). After treatment, concerning the value difference in FIQ and PIQ of the two groups; the changes in the group A were more significant (both P<0. 01). After treatment, the results of picture vocabulary and maze were improved significantly in the group A as compared with the group B (both P<. 01). The IQ categories changed apparently after treatment in the two groups, toward the higher level in tendency generally, but without significant difference (both P>0. 05). CONCLUSION:The simultaneous treatment with head point retaining of JIN's three needling therapy and the training for cognitive and perceptual disturbance obviously improves children patients' verbal comprehension, expression ability, hand-eye coordination ability, attention, logical reasoning ability and visual perception. The efficacy is better than that in the treatment of the training after acupuncture.
    Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability. Karaman Mercan Tuğba,Altiok Clark Ozden,Erkal Ozgur,Nur Banu,Mihci Ercan,Karaman Birsen,Senol Abdullah Utku,Berker Karauzum Sibel Cytogenetic and genome research Terminal deletions in the long arm of chromosome 4 are an uncommon event, with a worldwide incidence of approximately 0.001%. The majority of these deletions occur de novo. Terminal deletion cases are usually accompanied by clinical findings that include facial and cardiac anomalies, as well as intellectual disability. In this study, we describe the case of a 2-year-old girl, the fourth child born to consanguineous parents. While her karyotype was normal, a homozygous deletion was identified in the chromosome 4q35.2 region by subtelomeric FISH. A heterozygous deletion of the chromosome 4q35.2 region was observed in both parents. According to the literature, this is the first report of a case that has inherited a homozygous deletion of chromosome 4qter from carrier parents. Subsequent array-CGH analyses were performed on both the case and her parents. Whole-exome sequencing was also carried out to determine potential variants. We detected a NM_001111125.3:c.2329G>T (p.Glu777Ter) nonsense variant of the IQSEC2 gene in the girl, a variant that is related to X-linked intellectual disability. 10.1159/000515368
    The Effect of a Psychomotor Education Program on the Static Balance of Children With Intellectual Disability. Fotiadou Eleni G,Neofotistou Konstantina H,Giagazoglou Paraskevi F,Tsimaras Vasilios K Journal of strength and conditioning research Children with intellectual disability (ID) demonstrate lower balance ability which results in substantial delays in motor growth and limits their function level. Psychomotor education comprises a holistic movement approach, with the aim to improve all aspects of each child personality. The aim of this study was to assess the effect of a psychomotor education program on static balance of school-aged children with ID. Twenty children with ID who were 8-12 years old participated in the study. They were assigned to 2 groups, 1 experiment and 1 control. The experiment group attended a 16-week psychomotor education program at a frequency of 2 lessons per week, for 45 minutes. All the children who participated in the above measurements had (a) recording of anthropometric characteristics, (b) assessment of motor developmental index, and (c) measurement of static balance. The static balance ability was measured by means of an electronic pressure platform. Each child was requested to keep a quiet stance posture under 4 different conditions: double-leg stance with eyes opened or closed while they observed a visual or visual-auditory target. Participants of the intervention group reduced the values of static balance variables for all the positions. In conclusion, findings of this study clearly indicate that psychomotor education program has an important contribution to make for the most benefit of children with ID in terms of static balance. 10.1519/JSC.0000000000001612
    Global Burden of Childhood Epilepsy, Intellectual Disability, and Sensory Impairments. Pediatrics BACKGROUND:Estimates of children and adolescents with disabilities worldwide are needed to inform global intervention under the disability-inclusive provisions of the Sustainable Development Goals. We sought to update the most widely reported estimate of 93 million children <15 years with disabilities from the Global Burden of Disease Study 2004. METHODS:We analyzed Global Burden of Disease Study 2017 data on the prevalence of childhood epilepsy, intellectual disability, and vision or hearing loss and on years lived with disability (YLD) derived from systematic reviews, health surveys, hospital and claims databases, cohort studies, and disease-specific registries. Point estimates of the prevalence and YLD and the 95% uncertainty intervals (UIs) around the estimates were assessed. RESULTS:Globally, 291.2 million (11.2%) of the 2.6 billion children and adolescents (95% UI: 249.9-335.4 million) were estimated to have 1 of the 4 specified disabilities in 2017. The prevalence of these disabilities increased with age from 6.1% among children aged <1 year to 13.9% among adolescents aged 15 to 19 years. A total of 275.2 million (94.5%) lived in low- and middle-income countries, predominantly in South Asia and sub-Saharan Africa. The top 10 countries accounted for 62.3% of all children and adolescents with disabilities. These disabilities accounted for 28.9 million YLD or 19.9% of the overall 145.3 million (95% UI: 106.9-189.7) YLD from all causes among children and adolescents. CONCLUSIONS:The number of children and adolescents with these 4 disabilities is far higher than the 2004 estimate, increases from infancy to adolescence, and accounts for a substantial proportion of all-cause YLD. 10.1542/peds.2019-2623
    Stability of cognitive performance in children with mild intellectual disability. Jenni Oskar G,Fintelmann Sylvia,Caflisch Jon,Latal Beatrice,Rousson Valentin,Chaouch Aziz Developmental medicine and child neurology AIM:Longitudinal studies that have examined cognitive performance in children with intellectual disability more than twice over the course of their development are scarce. We assessed population and individual stability of cognitive performance in a clinical sample of children with borderline to mild non-syndromic intellectual disability. METHOD:Thirty-six children (28 males, eight females; age range 3-19y) with borderline to mild intellectual disability (Full-scale IQ [FSIQ] 50-85) of unknown origin were examined in a retrospective clinical case series using linear mixed models including at least three assessments with standardized intelligence tests. RESULTS:Average cognitive performance remained remarkably stable over time (high population stability, drop of only 0.38 IQ points per year, standard error=0.39, p=0.325) whereas individual stability was at best moderate (intraclass correlation of 0.58), indicating that about 60% of the residual variation in FSIQ scores can be attributed to between-child variability. Neither sex nor socio-economic status had a statistically significant impact on FSIQ. INTERPRETATION:Although intellectual disability during childhood is a relatively stable phenomenon, individual stability of IQ is only moderate, likely to be caused by test-to-test reliability (e.g. level of child's cooperation, motivation, and attention). Therefore, clinical decisions and predictions should not rely on single IQ assessments, but should also consider adaptive functioning and previous developmental history. 10.1111/dmcn.12620
    Children with intellectual disability and hospice utilization. Lindley Lisa C,Colman Mari Beth,Meadows John T Journal of hospice and palliative nursing : JHPN : the official journal of the Hospice and Palliative Nurses Association Over 42,000 children die each year in the United States, including those with intellectual disability (ID). Survival is often reduced when children with intellectual disability also suffer from significant motor dysfunction, progressive congenital conditions, and comorbidities. Yet, little is known about hospice care for children with intellectual disability. The purpose of this study was to explore the relationship between intellectual disability and hospice utilization. Additionally, we explored whether intellectual disability combined with motor dysfunction, progressive congenital conditions, and comorbidities influenced pediatric hospice utilization. Using a retrospective cohort design and data from the 2009 to 2010 California Medicaid claims files, we conducted a multivariate analysis of hospice utilization. This study shows that intellectual disability was negatively related to hospice enrollment and length of stay. We also found that when children had both intellectual disability and comorbidities, there was a positive association with enrolling in hospice care. A number of clinical implications can be drawn from the study findings that hospice and palliative care nurses use to improve their clinical practice of caring for children with ID and their families at end of life. 10.1097/NJH.0000000000000301
    Prevalence of Autism Spectrum Disorders Among Children With Intellectual Disability. Tonnsen Bridgette L,Boan Andrea D,Bradley Catherine C,Charles Jane,Cohen Amy,Carpenter Laura A American journal on intellectual and developmental disabilities Autism spectrum disorders (ASD) often co-occur with intellectual disability (ID) and are associated with poorer psychosocial and family-related outcomes than ID alone. The present study examined the prevalence, stability, and characteristics of ASD estimates in 2,208 children with ASD and ID identified through the South Carolina Autism and Developmental Disabilities Network. The prevalence of ASD in ID was 18.04%, relative to ASD rates of 0.60%-1.11% reported in the general South Carolina population. Compared to children with ASD alone, those with comorbid ID exhibited increased symptom severity and distinct DSM-IV-TR profiles. Further work is needed to determine whether current screening, diagnostic, and treatment practices adequately address the unique needs of children and families affected by comorbid ASD and ID diagnoses. 10.1352/1944-7558-121.6.487
    Prevalence and characteristics of psychotropic drug use in institutionalized children and adolescents with mild intellectual disability. Scheifes Arlette,de Jong Daniël,Stolker Joost Jan,Nijman Henk L I,Egberts Toine C G,Heerdink Eibert R Research in developmental disabilities Psychotropic drugs are a cornerstone in the treatment of psychopathology and/or behavioral problems in children with intellectual disability (ID), despite concerns about efficacy and safety. Studies on the prevalence of psychotropic drug use have mainly been focused on adults with ID or children without ID. Therefore the aim of this cross sectional study was to assess the prevalence and characteristics of psychotropic drug use in children with mild ID who were institutionalized in specialized inpatient treatment facilities in The Netherlands. Demographic data, psychiatric diagnoses, the nature of the behavioral problems, level of intellectual functioning, and medication data were extracted from medical records using a standardized data collection form. Adjusted relative risks (ARR) for the association between patient characteristics and psychotropic drug use were estimated with Cox regression analysis. Of the 472 included children, 29.4% (n=139) used any psychotropic drug, of which 15.3% (n=72) used antipsychotics (mainly risperidone), and 14.8% (n=70) used psychostimulants (mainly methylphenidate). Age, sex, and behavioral problems were associated with psychotropic drug use. Boys had a 1.7 (95%CI 1.1-2.4) higher probability of using psychotropic drugs, compared to girls adjusted for age and behavioral problems. Having any behavioral problem was associated with psychotropic drug use with an ARR of 2.1 (95%CI 1.3-3.3), adjusted for sex and age. The high prevalence of psychotropic drug use in children with ID is worrisome because of the lack of evidence of effectiveness (especially for behavioral problems) at this young age, and the potential of adverse drug reactions. 10.1016/j.ridd.2013.06.009
    Psychiatric diagnostic screening of social maladaptive behaviour in children with mild intellectual disability: differentiating disordered attachment and pervasive developmental disorder behaviour. Giltaij H P,Sterkenburg P S,Schuengel C Journal of intellectual disability research : JIDR BACKGROUND:Children with intellectual disability (ID) are at risk for maladaptive development of social relatedness. Controversy exists whether Pervasive Developmental Disorder (PDD) takes precedence over disordered attachment for describing maladaptive social behaviour. The aim of this study was to assess the prevalence of disordered attachment symptoms in children with ID referred for mental health diagnosis, and to study the potential diagnostic overlap between symptoms of disordered attachment and PDD symptoms. METHOD:Children (n = 102) in the age of 5-11 with IDs (borderline or mild; IQ 50-85) referred for psychiatric consultation were recruited. Parents were administered a screening interview for disturbances of attachment and teachers were administered a screening questionnaire for PDD. RESULTS:Behavioural symptoms of disordered attachment were reported for 42%* of the children, with 16%* showing symptoms of inhibited and 37%* showing symptoms of disinhibited attachment disorder. In 11% both types of symptoms were noted. Attachment disorder symptoms were not significantly associated with gender, ethnic background or age. Positive screening for PDD occurred for 27%. Positive screening for PDD was not significantly associated with symptoms of attachment disorder. CONCLUSIONS:Among children with ID referred for psychiatric consultation, Reactive Attachment Disorder (RAD) and PDD symptoms were both highly prevalent. RAD and PDD symptoms appear as distinct, but sometimes comorbid, forms of aberrant social relatedness. 10.1111/jir.12079
    Executive function in children with intellectual disability--the effects of sex, level and aetiology of intellectual disability. Memisevic H,Sinanovic O Journal of intellectual disability research : JIDR BACKGROUND:Executive function is very important in the children's overall development. The goal of this study was to assess the executive function in children with intellectual disability (ID) through the use of the Behavior Rating Inventory of Executive Function (BRIEF) teacher version. An additional goal was to examine the differences in executive function in relation to child's sex, level and aetiology of ID. METHOD:The sample consisted of 90 children with ID attending two special education schools in Sarajevo, Bosnia and Herzegovina. There were 42 children with mild ID and 48 children with moderate ID. Of those, 54 were boys and 36 were girls. Children were classified into three etiological categories: 30 children with Down syndrome, 30 children with other genetic cause or organic brain injury and 30 children with unknown aetiology of ID. Special education teachers, who knew the children for at least 6 months filled the BRIEF. RESULTS:Children with ID had a significant deficit in executive function as measured by the BRIEF. There were no statistically significant differences in executive function in relation to the child's sex. Level of ID had a significant effect on executive function. In relation to the aetiology of ID, the only significant difference was on the Shift scale of the BRIEF. CONCLUSIONS:Knowing what executive function is most impaired in children with ID will help professionals design better intervention strategies. More attention needs to be given to the assessment of executive function and its subsequent intervention in the school settings. 10.1111/jir.12098
    Exploring Phonological Awareness Skills in Children With Intellectual Disability. Sermier Dessemontet Rachel,de Chambrier Anne-Françoise,Martinet Catherine,Moser Urs,Bayer Nicole American journal on intellectual and developmental disabilities The phonological awareness skills of 7- to 8-year-old children with intellectual disability (ID) were compared to those of 4- to 5-year-old typically developing children who were matched for early reading skills, vocabulary, and gender. Globally, children with ID displayed a marked weakness in phonological awareness. Syllable blending, syllable segmentation, and first phoneme detection appeared to be preserved. In contrast, children with ID showed a marked weakness in rhyme detection and a slight weakness in phoneme blending. Two school years later, these deficits no longer remained. Marked weaknesses appeared in phoneme segmentation and first/last phoneme detection. The findings suggest that children with ID display an atypical pattern in phonological awareness that changes with age. The implications for practice and research are discussed. 10.1352/1944-7558-122.6.476
    [Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics OBJECTIVE:To explore the genetic basis for a child featuring global developmental delay. METHODS:DNA was extracted from peripheral blood sample taken from the patient and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members. RESULTS:A heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene was detected in the proband, which was a verified to be de novo in origin. CONCLUSION:The heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene probably underlay the disease in this child. 10.3760/cma.j.cn511374-20200121-00044
    Intellectual Disability in Children Conceived Using Assisted Reproductive Technology. Hansen Michele,Greenop Kathryn R,Bourke Jenny,Baynam Gareth,Hart Roger J,Leonard Helen Pediatrics OBJECTIVES:To examine whether children conceived using assisted reproductive technology (ART) have a higher risk of intellectual disability (ID) compared with non-ART-conceived children and describe known causes of ID in these groups. METHODS:We linked ID and ART data from population-based registers in Western Australia. Our cohort included live births from 1994 to 2002 ( = 210 627) with at least 8 years of follow-up. The prevalence of ID was compared between ART- and non-ART-conceived children, and risk of ID was estimated using Poisson regression with robust SEs. We also stratified by plurality and gestation at delivery. RESULTS:Children conceived using ART had a small increased risk of ID (risk ratio 1.58; 95% confidence interval 1.19-2.11) even when analyses were restricted to singleton births (risk ratio 1.56; 95% confidence interval 1.10-2.21). The risk of ID was more than doubled for those born very preterm, for severe ID, and after intracytoplasmic sperm injection (ICSI) treatments. Children conceived using ICSI had a greater risk of ID than those conceived using in vitro fertilization and were more likely to have a known genetic cause for ID (27.6% vs 12.9% in vitro fertilization and 11.9% non-ART). CONCLUSIONS:The risk of ID was increased in children born after ART in Western Australia from 1994 to 2002. More recent cohorts should be examined to assess the impact of important changes in ART clinical practice. Our results are particularly pertinent because multiple embryo transfers are routinely performed in many countries, increasing the risk of preterm birth, and ICSI use rates are high. 10.1542/peds.2018-1269
    Children with Intellectual Disability Are Vulnerable to Overweight and Obesity: A Cross-Sectional Study among Chinese Children. Wang Jingjing,Gao Yang,Kwok Heather H M,Huang Wendy Y J,Li Siuting,Li Liping Childhood obesity (Print) BACKGROUND:The epidemic of childhood obesity has been well documented in typically developing child populations, while situations among children with intellectual disabilities (ID) remain unclear. METHODS:A cross-sectional study was conducted among 524 Chinese children with ID (males: 68.9%, mean age: 12.2 years) in Hong Kong in 2015. Children's height and weight were measured at school. Parents, in the presence of their children, completed a self-administered questionnaire at home about the children's physical activity (PA), eating habits, and sleep duration in a typical week as well as parenting practices regarding children's eating, PA, and their sociodemographic characteristics. RESULTS:Of the participants, 31.3% were overweight or obese, which was higher than their typical counterparts (18.7%-19.9%). Multivariate logistic regression analyses revealed that overweight and obesity in children with ID were linked to their comorbidity with autism, maternal overweight and obesity, parenting practices with less pressure to eat more, children having shorter sleep duration, longer periods of sedentary behavior, and higher intake frequencies of sweetened beverages, fried food, meats, fish, and eggs. CONCLUSIONS:Children with ID are vulnerable to being overweight or obese. Identified risk factors in this study highlight a multifaceted approach to the involvement of parents as well as the modification of some children's questionable behaviors to help them achieve a healthy weight. 10.1089/chi.2018.0015
    Foster Care Outcomes for Children With Intellectual Disability. Slayter Elspeth M Intellectual and developmental disabilities The promotion of speedy, permanent outcomes for foster children is a central child welfare policy goal. However, while children with intellectual disability (ID) are at greater risk for child welfare involvement, little is known about their case outcomes. This cross-sectional national study explores between-group foster care outcomes. Foster children with intellectual disability were more likely to have experienced an adoption disruption or dissolution but less likely to be reunified with a parent, primary caretaker or other family member. Implications for interagency collaboration in support of pre and post-foster care discharge support services are discussed. 10.1352/1934-9556-54.5.299
    Comparative Evaluation of Pediatric Patients with Mental Retardation undergoing Dental Treatment under General Anesthesia: A Retrospective Analysis. Ahuja Ravish,Jyoti Bhuvan,Shewale Vinod,Shetty Shridhar,Subudhi Santosh Kumar,Kaur Manpreet The journal of contemporary dental practice INTRODUCTION:Behavioral management of patients forms one of the foremost components of pediatric dental treatment. Some children readily cooperate with dental treatment, while others require general anesthesia as a part of treatment protocol for carrying out various dental procedures. Hence, we evaluated the pediatric patients with and without mental retardation, who underwent dental treatment under general anesthesia. MATERIALS AND METHODS:The present study analyzed the record of 480 pediatric patients reporting in the department of pedodontics from 2008 to 2014. Analysis of the records of the patients who underwent dental treatment under general anesthesia was done and all the patients were divided into two study groups depending upon their mental level. For the purpose of evaluation, the patients were also grouped according to their age; 4 to 7 years, 8 to 12 years, and 13 to 18 years. Measurement of decayed, missing, and filled teeth and scores for both deciduous and permanent dentition was done before and after the commencement of the dental treatment. Chi-square test and independent t-test were used for evaluating the level of significance. RESULTS:While comparing the patients in the two groups, maximum number of patients is present in the age group of 13 to 18 years. While comparing the indices' score between the two study groups in various age intervals, no statistically significant results were obtained. Restorative treatment and dental extractions were the most common dental treatments that were seen at a higher frequency in the intellectual disability study group. CONCLUSION:In patients with mental retardation, a higher frequency of restorative treatment and extractions occurs as compared to healthy subjects of similar age group. Therefore, they require special attention regarding maintenance of their oral health. CLINICAL SIGNIFICANCE:Special attention should be given for maintaining the oral health of patients with special health care needs as compared to their physically and mentally normal counterparts. 10.5005/jp-journals-10024-1911
    A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability. Beleford Daniah T,Van Ziffle Jessica,Hodoglugil Ugur,Slavotinek Anne M European journal of medical genetics We describe a three year old female who underwent clinical exome sequencing and was diagnosed with BCL11A-related intellectual disability/Dias-Logan syndrome due to a de novo, heterozygous variant in the BCL11A gene, NM_018014.3:c.148C > T; p.(Gln50*). A missense variant in MC4R, NM_005912.3:c.806T > A; p.(Ile269Asn), was also reported as a secondary finding. In her family, her father, paternal aunt, and paternal uncle were all reported to have height and weight measurements suggestive of Class 3 obesity with BMI>40 kg/m. The MC4R gene is not currently listed among those recommended for reporting of secondary findings by the American College of Medical Genetics and Genomics (ACMG). The identification of genetic risk factors for obesity is an emerging field without established guidelines for the care of patients who are found to have a predisposing genetic variant for obesity as a secondary finding. Management suggestions include interventions for weight-management, early screening for obesity-related co-morbidities, such as diabetes and dyslipidemia, and targeted therapies, such as MC4R agonists. 10.1016/j.ejmg.2020.103969
    Efficacy of a socioemotional learning programme in a sample of children with intellectual disability. Faria Sónia M M,Esgalhado Graça,Pereira Cristina M G Journal of applied research in intellectual disabilities : JARID Socioemotional learning (SEL) is the process of developing social and emotional competences through which the child learns to recognize and manage emotions, care for others, make good decisions, behave responsibly and ethically, develop positive relationships and avoid negative behaviours (Promoting social and emotional learning: Guidelines for educators, 1997). To promote the development of these competences, specific programmes are developed. This study aims to analyse the impact of a SEL programme among children with intellectual disability. Two groups were established, control and experimental, and the Test of Emotion Comprehension (TEC) (Test of emotion comprehension - TEC, 2000; Les émotions à l'école, émotions et apprentissage, 2004) was applied to both as pre- and post-test. The programme was implemented in the experimental group, based on simply illustrated stories alluding the basic emotions. The findings suggest that the programme is effective in the development of socioemotional competences (SEC) in subjects with intellectual disabilities, evidencing the positive effects that the intervention programme had with the experimental group. 10.1111/jar.12547
    [Genetic study of a child with developmental delay and mental retardation]. Zhang Jianlin,Zhang Junrong,Yang Yimei,Wang Shanshan,Yao Feng,Zhang Yuquan Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics OBJECTIVE:To explore the genetic basis for a child with developmental delay and mental retardation. METHODS:Chromosomal karyotype of the child was analyzed by G-, C- and N-banding techniques. Her genome DNA was analyzed with single nucleotide polymorphisms array (SNP array). The result was validated by fluorescence quantitative polymerase chain reaction (PCR). RESULTS:The karyotype of the child was ascertained as 46,XX,r(22)(p12q13). SNP array has revealed a deletion of approximately 1.4 Mb at 22q13.33 (49 802 963-51 197 766). The deletion has encompassed the SHANK3, a crucial gene for the development of nervous system. Fluorescence quantitative PCR has confirmed the deletion of exons 7, 19 and 22 of the SHANK3 gene. CONCLUSION:The phenotype of the patient may be attributed to the microdeletion at 22q13.33. Cytogenetic methods combined with SNP array and fluorescence quantitative PCR can identify aberrant chromosomes and provide accurate information for the clinical diagnosis and genetic counseling. 10.3760/cma.j.issn.1003-9406.2020.08.015
    Development of a New Attention Rating Scale for Children With Intellectual Disability: The Scale of Attention in Intellectual Disability (SAID). Freeman Nerelie C,Gray Kylie M,Taffe John R,Cornish Kim M American journal on intellectual and developmental disabilities Difficulties with attention, impulsivity, and hyperactivity are thought to be as common among children with intellectual disability (ID) as they are in children without ID. Despite this, there is a lack of scales to specifically assess ADHD symptomatology in children and adolescents with ID. This article describes the development and evaluation of a teacher-completed measure; the Scale of Attention in Intellectual Disability (SAID). A community survey of 176 teachers of children 5-13 years of age, with ID at all levels of impairment indicated that the T-SAID is a reliable and valid measure. Integrating this scale with neuropsychological and clinical research holds exciting promise for enhancing our understanding of the nature of attention difficulties within populations with ID. 10.1352/1944-7558-120.2.91
    [Mental capacity and the incidence of children with mental retardation in preschool education institutions of compensating type]. Bannikova L P,Sebirzianov M D Gigiena i sanitariia The study is devoted to the investigation of the mental capacity of children 6-7 years old with mental retardation in preschool educational institutions of compensating type. Under observation there were 160 children, out of them - 87 patients with mental retardation and 73 mental age-matched cases - the control group. The features of the dynamics of task performance in children with mental retardation in comparison with the cases from control group have been revealed. Indices of their mental capacity were found to be in dependence on the organization of upbringing and education space, which can be achieved only in a preschool educational institutions of compensating type. Mental retardation in children was found to be in a greater degree associated with somatogenic causes.
    [Identification of a novel SYNGAP1 mutation in a child with intellectual disability]. Lu Jing,Zhang Yi,Han Cong,Zhu Jiayi,Wang Jian,Yao Ruen Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics OBJECTIVE:To report on a child with mental retardation caused by SYNGAP1 gene mutation. METHODS:Peripheral blood samples were collected from the proband and her parents. High throughput sequencing (HTS) was employed for screening for potential mutation in the patient. Suspected mutation was validated by Sanger sequencing of the child and her parents. RESULTS:By HTS, a previously unknown mutation [c.1656C>A (p.C552*)] was found in exon 10 of the SYNGAP1 gene in the proband. Sanger sequencing confirmed the heterozygous nature of the mutation and that neither of her parents carried the same mutation. CONCLUSION:The dysmorphism and developmental delay of the child were probably due to the pathogenic mutation of the SYNGAP1 gene. HTS can facilitate elucidation of the genetic etiology with efficiency, which has great significance in the diagnosis, treatment and prognosis of the child. 10.3760/cma.j.issn.1003-9406.2019.07.015
    The effect of positive parenting program on mental health in mothers of children with intellectual disability. Ashori Mohammad,Norouzi Ghasem,Jalil-Abkenar Seyyedeh Somayyeh Journal of intellectual disabilities : JOID The aim of this research was to examine the effectiveness of positive parenting program (Triple-P) on the mental health of mothers of children with intellectual disability (ID). This study was a quasi-experimental research with pretest, posttest design, and a control group. Thirty-six mothers of students with ID participated in this study and were divided into two groups (intervention group and control group). Each group consisted of 18 participants. The intervention group received a parent training program during 12 sessions, each session lasting for 80 min, while the control group did not receive any special training. Multivariate analysis of covariance test was applied to analyze the obtained data using SPSS software. The results of this study indicated that Triple-P had significant effect on the somatic symptoms, anxiety, depression, social dysfunction, and mental health of mothers of children with ID. As a result, this research emphasized that parenting skills training will improve the mental health of mothers of children with ID, and therefore, planning for Triple-P training is of particular importance. 10.1177/1744629518824899
    Quantitative ultrasound bone profile and vitamin D status in 5-11 years old children with intellectual disability. Cheema Mohsin Ali,Lone Khalid Parvez,Razi Farzana JPMA. The Journal of the Pakistan Medical Association OBJECTIVE:To measure serum vitamin D levels and quantitative ultrasound bone profile parameters and their correlation with each other in children with various grades of intellectual disability and bone health. METHODS:The descriptive study was conducted from January to December, 2011, at the University of Health Sciences, Lahore, Pakistan, and comprised children aged 5-11 years having intelligence quotient less than 70. Quantitative ultrasound measurements at hand phalanges were taken using an ultrasonic bone profiler. Serum calcium, phosphate and alkaline phosphatase were measured by calorimetry and 25-hydroxy vitamin D levels were measured by enzyme-linked immunosorbent assay. Data was analysed using appropriate statistical tools. RESULTS:Of the 61 children, 35 (57.4%) were boys and 26(42.6%) were girls. Overall median age was 104.48 months (inter quartile range: 77.77-128.04 months). Of the total, 17(27.9%) subjects had below normal bone profile and 51(85%) had less than 20ng/ml 25-hydroxy vitamin D levels. A mild negative correlation of 25-hydroxy vitamin D was seen with age (p=0.006). Moderate significant correlations of amplitude dependant speed of sound were observed with age (p<0.001) and alkaline phosphatase (p<0.001). CONCLUSIONS:Significant proportion of children with intellectual disability had below-normal bone profile. Vitamin D levels were extremely low in overwhelming majority of children with intellectual disability. Significant negative correlation of age with Vitamin D and positive correlation with amplitude dependant speed of sound may suggest increasing requirements of vitamin D with age to cope with advancing needs of growing skeleton in children with intellectual disability.
    Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in the GNE Gene. Ishtiaq Hina,Siddiqui Sonia,Nawaz Rukhsana,Jamali Khawar Saeed,Khan Abdul Ghani CNS & neurological disorders drug targets BACKGROUND:Sialuria is a rare inborn error of metabolism caused by excessive synthesis of sialic acid due to the mutation in the binding site of the cytidine monophosphate-sialic acid of UDPGlcNAc 2-Epimerase/ManNAc Kinase (GNE/MNK). OBJECTIVE:This is the first study investigating the molecular basis of neuronal disorders exhibiting sialuria in Pakistani children/adolescents. METHODS:The current study genotyped GNE SNPs rs121908621, rs121908622 and rs121908623 by using PCR, RFLP, and DNA sequencing methods. Socioeconomic and clinical histories were also recorded. RESULTS:Our data suggest that clinical symptoms and financial status play a significant role in conferring sialuria related Intellectual Disability (ID). SNP: rs121908623 showed G/A substitution (R263Q) in the GNE gene. CONCLUSION:We have identified one case study in Pakistan, so this makes our research a leap forward towards the identification of the 10th case study worldwide. 10.2174/1871527319666200213115747
    Resilience and impact of children's intellectual disability on Indian parents. Rajan Anugraha Merin,John Romate Journal of intellectual disabilities : JOID Resilience of parents in the context of raising a child with intellectual disability is gaining attention as a mechanism that addresses their inherent strengths to withstand the potential associated strain. Understanding its underlying factors has applications in fostering their resilience. The present study explored the resilience of parents and its relationship with the impact of child's disability. A total of 121 parents were assessed using Connor Davidson Resilience Scale and National Institute for the Mentally Handicapped Disability Impact Scale. The results revealed that parenting a child with intellectual disability posed them with both positive and negative experiences. Their evaluations about the condition of the child significantly influenced their resilience. The positive perceptions about the child's disability operated as a protective element, whereas their negative evaluations acted as a risk element of resilience. The findings have specific importance in designing interventions for families of persons with intellectual disability. 10.1177/1744629516654588
    Risk of Hospitalizations Following Gastrostomy in Children with Intellectual Disability. Jacoby Peter,Wong Kingsley,Srasuebkul Preeyaporn,Glasson Emma J,Forbes David,Ravikumara Madhur,Wilson Andrew,Nagarajan Lakshmi,Bourke Jenny,Trollor Julian,Leonard Helen,Downs Jenny The Journal of pediatrics OBJECTIVE:To examine the frequency of hospital admissions before and after gastrostomy insertion in children with severe intellectual disability. STUDY DESIGN:We conducted a retrospective cohort study using linked health administrative and disability data from Western Australia (WA) and New South Wales (NSW). Children born between 1983 and 2009 in WA and 2002 and 2010 in NSW who had a gastrostomy insertion performed (n = 673 [WA, n = 325; NSW, n = 348]) by the end of 2014 (WA) and 2015 (NSW) were included. Conditional Poisson regression models were used to evaluate the age-adjusted effect of gastrostomy insertion on acute hospitalizations for all-cause, acute lower respiratory tract infections (LRTI), and epilepsy admissions. RESULTS:The incidence of all-cause hospitalizations declined at 5 years after procedure (WA cohort 1983-2009: incidence rate ratio, 0.70 [95% CI, 0.60-0.80]; WA and NSW cohort 2002-2010: incidence rate ratio, 0.63 [95% CI, 0.45-0.86]). Admissions for acute LRTI increased in the WA cohort and remained similar in the combined cohort. Admissions for epilepsy decreased 4 years after gastrostomy in the WA cohort and were generally lower in the combined cohort. Fundoplication seemed to decrease the relative incidence of acute LRTI admissions in the combined cohort. CONCLUSIONS:Gastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI. These decreases in hospitalizations may reflect improved delivery of nutrition and medications. 10.1016/j.jpeds.2019.10.020
    Delay of gratification: a comparison study of children with Down syndrome, moderate intellectual disability and typical development. Cuskelly M,Gilmore L,Glenn S,Jobling A Journal of intellectual disability research : JIDR BACKGROUND:Self-regulation has been found to be an important contributor to a range of outcomes, with delay of gratification (a self-regulatory skill) predicting better academic, social and personal functioning. There is some evidence that individuals with Down syndrome have difficulty with delay of gratification. We investigated the question of whether this difficulty is common to intellectual disability irrespective of aetiology, or whether it presents a particular problem for those with Down syndrome. The latter was considered a possibility because of language difficulties in this group. METHOD:Three groups of children with a mean MA between 36 and 60 months participated in the study: children with Down syndrome (n = 32), children with a moderate intellectual disability from a cause other than Down syndrome (n = 26) and typically developing children (n = 50). Children completed a series of measures of language and cognitive functioning and participated in a delay of gratification task. RESULTS:The group of children with Down syndrome delayed for a significantly shorter time than either of the other two groups that did not differ from each other. Receptive language was associated with delay time for the children with Down syndrome but not for the typically developing group, nor for the group with moderate intellectual disability. CONCLUSIONS:Children with Down syndrome appear to have a particular difficulty with delay of gratification. Language abilities would seem to be implicated in this difficulty, although further examination of this hypothesis is required. 10.1111/jir.12262
    African families' and caregivers' experiences of raising a child with intellectual disability: A narrative synthesis of qualitative studies. African journal of disability BACKGROUND:The prevalence of intellectual disability was high in Africa, particularly amongst low socio-economic communities. Despite this, there was limited literature on primary caregivers and parents of people with intellectual disabilities regarding their experience raising an individual with the condition, especially within the African context. OBJECTIVES:The aim of the current systematic review was to investigate experiences of caregivers and parents of children with intellectual disability in Africa. METHOD:We used strict eligibility criteria to identify suitable studies. We identified Medical Subject Headings (MeSH) terms and other keyword terms and, after conducting searches in electronic databases, identified articles that met the inclusion criteria for articles published between 1975 and the end of 2019. RESULTS:164 articles were assessed for eligibility. Nine studies met the review's criteria. Six major themes emerged: understanding of intellectual disability (ID), worries about the future, burden of care, lack of services, coping strategies and stigma and discrimination. CONCLUSION:Caregivers of children with intellectual disability in Africa faced substantial challenges. Current findings suggested that there was the need for both formal and alternative healthcare workers to work together towards an understanding and management of intellectual disability in Africa. 10.4102/ajod.v10i0.827
    Exploratory study on cognitive abilities and social responsiveness in children with 22q11.2 deletion syndrome (22q11DS) and children with idiopathic intellectual disability (IID). Van Den Heuvel Ellen,Jonkers Evi,Rombouts Ellen,Manders Eric,Zink Inge,Swillen Ann Research in developmental disabilities BACKGROUND:Development of cognitive skills and social responsiveness are areas of concern in children with 22q11.2 deletion syndrome (22q11DS). It remains unclear if the cognitive and social profiles and trajectories are syndrome-specific or similar to those of children with idiopathic intellectual disabilities (IID) with or without comorbid autism spectrum disorder (ASD). AIMS AND METHODS:In this exploratory study, we examined and compared five broad cognitive abilities (BCAs) and the social responsiveness in primary school-aged children with 22q11DS (age 6-13, n = 21) and IQ-matched peers with IID (n = 21). The relative strengths and weaknesses of both groups were re-evaluated after 19 to 30 months. OUTCOMES AND RESULTS:Four different cognitive trajectories (i.e. absolute progress, stability, growing into deficit, and absolute decline) were demonstrated in both groups. Most children showed combined types of trajectories across BCAs resulting in a complex changing cognitive profile. In the 22q11DS group, social responsiveness problems increased, whereas no significant change was observed in the IID group. CONCLUSIONS AND IMPLICATIONS:Results reflect similar cognitive and social responsiveness profiles and trajectories across groups with children with 22q11DS being more at risk for growing into a social deficit. We recommend repeated monitoring of social skills development to adapt the environmental demands to the child's individual social capacities. 10.1016/j.ridd.2018.04.026
    A Population-Based Study of the Behavioral and Emotional Adjustment of Older Siblings of Children with and without Intellectual Disability. Hayden Nikita K,Hastings Richard P,Totsika Vasiliki,Langley Emma Journal of abnormal child psychology This is the first study on the behavioral and emotional adjustment of siblings of children with intellectual disabilities (ID) to use a population-based sample, from the third wave of the Millennium Cohort Study (MCS); a UK longitudinal birth cohort study. We examined differences between nearest-in-age older siblings (age 5-15) of MCS children (likely mainly with mild to moderate ID) identified with ID (n = 257 siblings) or not (n = 7246 siblings). The Strengths and Difficulties Questionnaire (SDQ) measured all children's adjustment. For SDQ total problems, 13.9% of siblings of children with ID and 8.9% of siblings of children without had elevated scores (OR 1.65; 95% CI 1.04, 2.62; p = 0.031). Similar group differences were found for SDQ peer and conduct problems. In logistic regression models, variables consistently associated with older sibling adjustment were: adjustment of the MCS cohort child, older sibling being male, family socio-economic position, primary carer psychological distress, and being from a single parent household. The ID grouping variable was no longer associated with adjustment for all SDQ domains, except siblings of children with ID were less likely to be identified as hyperactive (OR 0.30; 95% CI 0.10, 0.87; p = 0.027). Some older siblings of children with ID may be at additional risk for behavioral and emotional problems. Group differences were related mainly to social and family contextual factors. Future longitudinal research should address developmental pathways by which children with ID may affect sibling adjustment. 10.1007/s10802-018-00510-5
    Theory of mind development in school environment: A case of children with mild intellectual disability learning in inclusive and special education classrooms. Smogorzewska Joanna,Szumski Grzegorz,Grygiel Paweł Journal of applied research in intellectual disabilities : JARID BACKGROUND:This longitudinal study examines the extent to which a school classroom (inclusive vs. special education) is meaningful for theory of mind (ToM) development among children with mild intellectual disability. MATERIALS AND METHODS:The participant group consisted of 166 primary school-aged children (M = 8.1, SD = 0.99), 79 of whom attended inclusive classrooms; the remaining 87 were in special education classrooms. RESULTS:Although all children developed ToM over time, children's learning of ToM in inclusive classrooms was significantly greater than that seen in special classrooms. The difference remained significant after controlling for age. The present authors have compared children's individual and family characteristics, but there were almost no differences between groups. CONCLUSIONS:The present authors discuss the results in the light of their importance for children's cognitive and social development. The implications for children's education are also considered. 10.1111/jar.12616
    Exposure to second hand tobacco smoke at home and child smoking at age 11 among British children with and without intellectual disability. Emerson E,Hatton C,Robertson J,Baines S Journal of intellectual disability research : JIDR BACKGROUND:The exposure of children to second hand tobacco smoke (SHS) is a well-established risk factor for a range of adverse health conditions in childhood and later life. Little is known about the extent to which children with intellectual disability (ID) may be exposed to SHS. Our aim in this study was to estimate the risk of childhood exposure to SHS and early experience of smoking among children with and without ID in a nationally representative cohort of British children. METHOD:Secondary analysis of data extracted from the UK's Millennium Cohort Study, a nationally representative sample of over 18,000 UK children born 2000-2002. RESULTS:Children with ID are significantly more likely than their peers to be exposed to SHS and to have themselves experimented with smoking by age 11. Controlling for between-group differences in socio-economic position eliminated the increased risk of exposure to SHS and significantly attenuated, but did not eliminate, increased risk of experimenting with smoking by age 11. CONCLUSIONS:Levels of exposure to SHS among children with ID are typical of those of families of children without ID living in similar socio-economic circumstances. The results lend no support to the hypothesis that increased rates of parental smoking may be associated with any additional 'burden of care' experienced by parents of children with ID. Nevertheless, it will be important to ensure that evidence-based interventions to reduce exposure to SHS are tailored to the specific needs of families supporting children with ID (e.g. through the provision of disability-friendly child care arrangements). 10.1111/jir.12247
    Concurrence of the strengths and difficulties questionnaire and developmental behaviour checklist among children with an intellectual disability. Rice L J,Emerson E,Gray K M,Howlin P,Tonge B J,Warner G L,Einfeld S L Journal of intellectual disability research : JIDR BACKGROUND:The Strengths and Difficulties Questionnaire (SDQ) is widely used to measure emotional and behavioural problems in typically developing young people, although there is some evidence that it may also be suitable for children with intellectual disability (ID). The Developmental Behaviour Checklist - Parent version (DBC-P) is a measure of emotional and behavioural problems that was specifically designed for children and adolescents with an ID. The DBC-P cut-off has high agreement with clinical diagnosis. The aim of this study was to estimate the relationship between DBC-P and SDQ scores in a sample of children with ID. METHOD:Parents of 83 young people with ID aged 4-17 years completed the parent versions of the SDQ and the DBC-P. We evaluated the concurrent validity of the SDQ and DBC-P total scores, and the agreement between the DBC-P cut-off and the SDQ cut-offs for 'borderline' and 'abnormal' behaviour. RESULTS:The SDQ total difficulties score correlated well with the DBC-P total behaviour problem score. Agreement between the SDQ borderline cut-off and the DBC-P cut-off for abnormality was high (83%), but was lower for the SDQ abnormal cut-off (75%). Positive agreement between the DBC-P and the SDQ borderline cut-off was also high, with the SDQ borderline cut-off identifying 86% of those who met the DBC-P criterion. Negative agreement was weaker, with the SDQ borderline cut-off identifying only 79% of the participants who did not meet the DBC-P cut-off. CONCLUSION:The SDQ borderline cut-off has some validity as a measure of overall levels of behavioural and emotional problems in young people with ID, and may be useful in epidemiological studies that include participants with and without ID. However, where it is important to focus on behavioural profiles in children with ID, a specialised ID instrument with established psychometric properties, such as the DBC-P, may provide more reliable and valid information. 10.1111/jir.12426
    Computer-based cognitive remediation program for the treatment of behavioral problems in children with intellectual disability: the «COGNITUS & MOI» study protocol for a randomized controlled trial. Favre Emilie,Peyroux Elodie,Babinet Marie-Noelle,Poisson Alice,Demily Caroline BMC psychiatry BACKGROUND:Comorbid psychiatric disorders are frequent in children with intellectual disability (ID). Given the limitations of drugs treatments, cognitive remediation could be a promising tool to reduce these challenging behaviors but evidence is still scarce. Our group recently developed the «COGNITUS & MOI» program that is designed to train the attentional and visuospatial skills in children with ID. This study investigates the efficiency of the «COGNITUS & MOI» program in this condition. METHODS:Children (age: 6.00-13.11) with mild to moderate ID and behavioral problems, will benefit from a therapy during a 16 week randomized controlled trial. One group will be randomly treated with the «COGNITUS & MOI» program and the other with a motor skill and video viewing intervention. All participants will undergo a behavioral, functional and neurocognitive assessment at baseline, post-intervention, and 6-month follow-up. Primary outcome will be the change from the baseline of the score on the "hyperactivity - noncompliance" subscale of the Aberrant Behavior Checklist. DISCUSSION:If the results are conclusive, the «COGNITUS & MOI» program could be added to the therapeutic arsenal against challenging behavior in children with ID. TRIAL REGISTRATION:ClinicalTrials NCT02797418 . Date registered: 8th of June 2016. 10.1186/s12888-018-1810-z
    Physical activity levels of children and adolescents with moderate-to-severe intellectual disability. Wouters Marieke,Evenhuis Heleen M,Hilgenkamp Thessa I M Journal of applied research in intellectual disabilities : JARID BACKGROUND:Regular participation of children and adolescents with intellectual disabilites in physical activity is important to maintain good health and to acquire motor skills. The aim of this study was to investigate the habitual physical activity in these children. METHODS:Sixty-eight children and adolescents (2-18 years) with a moderate-to-severe intellectual disability were included in the analyses. They wore an accelerometer on eight consecutive days. Data was analysed by use of descriptive statistics and multiple linear regression analyses. RESULTS:The participants took on average 6,677 ± 2,600 steps per day, with intensity of 1,040 ± 431 counts per minute. In total, 47% of the participants were meeting physical activity recommendations. Low motor development was associated with low physical activity. CONCLUSIONS:As more than half of the participants were not meeting the recommendations, family and caregivers of these children should focus on supporting and motivating them to explore and expand their physical activities. 10.1111/jar.12515
    Intellectual disability (mental retardation) in children and adolescents. Pratt Helen D,Greydanus Donald E Primary care Mental retardation or MR (current term, intellectual disability [ID]) is a label used to describe a constellation of symptoms that includes severe deficits or limitations in an individual's developmental skills in several areas or domains of function: cognitive, language, motor, auditory, psychosocial, moral judgment, and specific integrative adaptive (ie, activities of daily living). This article reviews concepts of ID in children and adolescents useful for the primary care clinician who cares for these individuals. The majority of youth with ID can live independent or semi-independent lives as adults if they have received the appropriate personalized support over a sustained period of their lives, especially during the formative years. 10.1016/j.pop.2007.04.010
    A Comparison of Video Prompting to Least-to-Most Prompting among Children with Autism and Intellectual Disability. Aljehany Mashal Salman,Bennett Kyle D Journal of autism and developmental disorders Students with autism spectrum disorder (ASD) and intellectual disability (ID) may experience challenges when learning tasks that are complex and require numerous steps. This difficulty can lead to employment issues for this population of learners. Therefore, researchers have explored methods to teach employment-related tasks to students with ASD and ID. Two such procedures are video prompting (VP) and least-to-most prompting. These procedures are frequently combined as an intervention package to boost student responding. The purpose of this study was to explore which of these interventions was more effective and efficient when used to teach office tasks to individuals with ASD and ID. Three adolescent students participated in this study. Using the adapted alternating treatments design, we found that VP was more effective and efficient for two participants, whereas least-to-most prompting was more effective but less efficient for the remaining participant. Implications for research and practice are discussed. 10.1007/s10803-019-03929-x
    Inhibitory control and adaptive behaviour in children with mild intellectual disability. Gligorović M,Buha Ðurović N Journal of intellectual disability research : JIDR BACKGROUND:Inhibitory control, as one of the basic mechanisms of executive functions, is extremely important for adaptive behaviour. The relation between inhibitory control and adaptive behaviour is the most obvious in cases of behavioural disorders and psychopathology. Considering the lack of studies on this relation in children with disabilities, the aim of our research is to determine the relation between inhibitory control and adaptive behaviour in children with mild intellectual disability. METHOD:The sample consists of 53 children with mild intellectual disability. Selection criteria were: IQ between 50 and 70, age between 10 and 14, absence of bilingualism, and with no medical history of neurological impairment, genetic and/or emotional problems. Modified Day-Night version of the Stroop task, and Go-no-Go Tapping task were used for the assessment of inhibitory control. Data on adaptive behaviour were obtained by applying the first part of AAMR (American Association on Mental Retardation) Adaptive Behaviour Scale-School, Second Edition (ABS-S:2). RESULTS:Significant relationships were determined between some aspects of inhibitory control and the most of assessed domains of adaptive behaviour. Inhibitory control measures, as a unitary inhibition model, significantly predict results on Independent Functioning, Economic Activity, Speech and Language Development, and Number and Times domains of the ABS-S:2. Inhibitory control, assessed by second part of the Stroop task, proved to be a significant factor in practical (Independent Functioning) and conceptual (Economic Activity, Speech and Language Development, and Numbers and Time) adaptive skills. The first part of the Stroop task, as a measure of selective attention, proved to be a significant factor in language and numerical demands, along with second one. Inhibitory control through motor responses proved to be a significant factor in independent functioning, economic activities, language and self-direction skills. CONCLUSION:We can conclude that inhibitory control represents a significant developmental factor of different adaptive behaviour domains in children with mild intellectual disability. 10.1111/jir.12000
    FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Schneider Amy L,Myers Candace T,Muir Alison M,Calvert Sophie,Basinger Alice,Perry M Scott,Rodan Lance,Helbig Katherine L,Chambers Chelsea,Gorman Kathleen M,King Mary D,Donkervoort Sandra,Soldatos Ariane,Bönnemann Carsten G,Spataro Nino,Gabau Elisabeth,Arellano Montserrat,Cappuccio Gerarda,Brunetti-Pierri Nicola,Rossignol Elsa,Hamdan Fadi F,Michaud Jacques L,Balak Christopher,Mefford Heather C,Scheffer Ingrid E Epilepsia Chromosome 1q41-q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the 1q41-q42 microdeletion, WDR26 and FBXO28, have been implicated in monogenic disease. Patients with WDR26 encephalopathy overlap clinically with those with 1q41-q42 deletion syndrome, whereas only one patient with FBXO28 encephalopathy has been described. Seizures are a prominent feature of 1q41-q42 deletion syndrome; therefore, we hypothesized that pathogenic FBXO28 variants cause developmental and epileptic encephalopathies (DEEs). We describe nine new patients with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and analyze all 10 known cases to delineate the phenotypic spectrum. All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features, albeit different to those typically seen in 1q41-q42 deletion syndrome and WDR26 encephalopathy. We distinguish FBXO28 encephalopathy from both of these disorders with more severe intellectual impairment, drug-resistant epilepsy, and hyperkinetic movement disorders. 10.1111/epi.16784
    [Identification of a de novo missense variant of ARID1B gene in a child with mental retardation]. Zhang Ting,Wu Qian,Yang Jianbin,Wu Dingwen,Shen Yaping,Yang Rulai,Huang Xinwen Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics OBJECTIVE:To explore the genetic basis for a child with mental retardation. METHODS:The child was subjected to next generation sequencing (NGS). Candidate variant was analyzed with bioinformatic software. RESULTS:NGS revealed that the child has carried a de novo heterozygous c.4035G>C (p.Gln1345His) variant of the ARID1B gene. The variant was unreported previously and may cause instability of the protein structure. CONCLUSION:The de novo missense variant of ARID1B gene may underlie the mental retardation in the child. Above result has enabled genetic counseling and prenatal diagnosis for her family. 10.3760/cma.j.cn511374-20191006-00508
    The Early Positive Approaches to Support (E-PAtS) study: study protocol for a feasibility cluster randomised controlled trial of a group programme (E-PAtS) for family caregivers of young children with intellectual disability. Pilot and feasibility studies BACKGROUND:Children with intellectual disability have an IQ < 70, associated deficits in adaptive skills and are at increased risk of having clinically concerning levels of behaviour problems. In addition, parents of children with intellectual disability are likely to report high levels of mental health and other psychological problems. The Early Positive Approaches to Support (E-PAtS) programme for family caregivers of young children (5 years and under) with intellectual and developmental disabilities is a group-based intervention which aims to enhance parental psychosocial wellbeing and service access and support positive development for children. The aim of this study is to assess the feasibility of delivering E-PAtS to family caregivers of children with intellectual disability by community parenting support service provider organisations. The study will inform a potential, definitive RCT of the effectiveness and cost-effectiveness of E-PAtS. METHODS:This study is a feasibility cluster randomised controlled trial, with embedded process evaluation. Up to 2 family caregivers will be recruited from 64 families with a child (18 months to 5 years) with intellectual disability at research sites in the UK. Participating families will be allocated to intervention: control on a 1:1 basis; intervention families will be offered the E-PAtS programme immediately, continuing to receive usual practice, and control participants will be offered the opportunity to attend the E-PAtS programme at the end of the follow-up period and will continue to receive usual practice. Data will be collected at baseline, 3 months post-randomisation and 12 months post-randomisation. The primary aim is to assess feasibility via the assessment of: recruitment of service provider organisations; participant recruitment; randomisation; retention; intervention adherence; intervention fidelity and the views of participants, intervention facilitators and service provider organisations regarding intervention delivery and study processes. The secondary aim is preliminary evaluation of a range of established outcome measures for individual family members, subsystem relationships and overall family functioning, plus additional health economic outcomes for inclusion in a future definitive trial. DISCUSSION:The results of this study will inform a potential future definitive trial, to evaluate the effectiveness and cost-effectiveness of the E-PAtS intervention to improve parental psychosocial wellbeing. Such a trial would have significant scientific impact internationally in the intellectual disability field. TRIAL REGISTRATION:ISRCTN70419473. 10.1186/s40814-020-00689-9
    The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children. D'Arrigo Stefano,Gavazzi Francesco,Alfei Enrico,Zuffardi Orsetta,Montomoli Cristina,Corso Barbara,Buzzi Erika,Sciacca Francesca L,Bulgheroni Sara,Riva Daria,Pantaleoni Chiara Journal of child neurology Microarray-based comparative genomic hybridization is a method of molecular analysis that identifies chromosomal anomalies (or copy number variants) that correlate with clinical phenotypes. The aim of the present study was to apply a clinical score previously designated by de Vries to 329 patients with intellectual disability/developmental disorder (intellectual disability/developmental delay) referred to our tertiary center and to see whether the clinical factors are associated with a positive outcome of aCGH analyses. Another goal was to test the association between a positive microarray-based comparative genomic hybridization result and the severity of intellectual disability/developmental delay. Microarray-based comparative genomic hybridization identified structural chromosomal alterations responsible for the intellectual disability/developmental delay phenotype in 16% of our sample. Our study showed that causative copy number variants are frequently found even in cases of mild intellectual disability (30.77%). We want to emphasize the need to conduct microarray-based comparative genomic hybridization on all individuals with intellectual disability/developmental delay, regardless of the severity, because the degree of intellectual disability/developmental delay does not predict the diagnostic yield of microarray-based comparative genomic hybridization. 10.1177/0883073815613562
    Investigating the child with intellectual disability. Amor David J Journal of paediatrics and child health The search for causation is a key component of the assessment of the child with intellectual disability. Historically, a specific diagnosis has been achievable in only a small minority of these children, but over the last decade, this has changed dramatically such that a specific diagnosis is now possible in about half of all children with intellectual disability. This improvement has been driven by major advances in genetic-testing technologies, the most important of which are chromosome microarray and whole exome sequencing. Simultaneously, these technological advances have revealed many new genetic syndromes that had previously escaped clinical recognition, and demonstrated that the majority of severe intellectual disability is caused by pathogenic gene variants that arise de novo in the child. Although access to genomic testing is currently limited, evidence from health economic studies suggests that this testing is most cost effective when performed early in the patient's diagnostic journey. 10.1111/jpc.14202
    Functioning, participation, and quality of life in children with intellectual disability: an observational study. Williams Katrina,Jacoby Peter,Whitehouse Andrew,Kim Rachel,Epstein Amy,Murphy Nada,Reid Sue,Leonard Helen,Reddihough Dinah,Downs Jenny Developmental medicine and child neurology AIMS:To investigate associations between functioning, community participation, and quality of life (QoL) and identify whether participation mediates the effects of functioning on QoL. METHOD:The caregivers of 435 children (211 females, 224 males; mean age 12y; SD 3y 11mo; age range 5-18y) with intellectual disability and autism spectrum disorder, cerebral palsy, Down syndrome, or Rett syndrome reported on their child's functioning (dependence for managing personal needs, mobility, communication, eye contact when speaking), frequency of participation, and QoL. Linear regression and mediation analyses were used to evaluate the relationships between child functioning, participation, and QoL. RESULTS:Children with greater dependency for managing personal needs and limited eye contact when speaking experienced poorer QoL. Less impaired functioning was associated with more frequent participation, which, in turn, was associated with a 3-point gain in QoL for each additional point in frequency of participation (coefficient=2.67, 95% confidence interval 1.56-3.78). The effect of impaired functioning on QoL was partially mediated by participation in children with greater dependency in managing personal needs and those with mildly impaired communication. INTERPRETATION:Greater levels of impairments with poorer functioning, notably a high level of dependence, were associated with poorer QoL. Poorer QoL can be partly explained by less frequent community participation. 10.1111/dmcn.14657
    Rates of breastfeeding and exposure to socio-economic adversity amongst children with intellectual disability. Gore Nick,Emerson Eric,Brady Serena Research in developmental disabilities Children with intellectual disability are at increased risk of experiencing poor health relative to their typically developing peers. Previous research indicates that exposure to socio-economic disadvantage contributes towards this disparity but that additional factors (including parenting practices) may be involved in mediating/moderating pathways. This study examined duration of breastfeeding amongst children with and without intellectual disability by a secondary analysis of data from the UK Millennium Cohort Study. Children with intellectual disability were significantly less likely to have been ever breastfed; breastfed exclusively or at all at 3 months or breastfed at all at 6 months relative to children without intellectual disability. None of these differences remained significant when other psycho-social risk factors for reduced breastfeeding were controlled for. The study adds to both the sparse literature on breastfeeding practices amongst families of children with intellectual disability and research demonstrating relationships between socio-economic disadvantage and wellbeing for children with intellectual disability. 10.1016/j.ridd.2014.12.028
    Psychological interventions for depression in children and young people with an intellectual disability and/or autism: systematic review. The British journal of psychiatry : the journal of mental science BACKGROUND:Children and young people with intellectual disability and/or Autism Spectrum Disorder (autism) experience higher rates of mental health problems, including depression, than their typically developing peers. Although international guidelines suggest psychological therapies as first-line intervention for children and young people, there is limited evidence for psychological therapy for depression in children and young people with intellectual disability and/or autism. AIMS:To evaluate the current evidence base for psychological interventions for depression in children and young people with intellectual disability and/or autism, and examine the experiences of children and young people with intellectual disability and/or autism, their families and therapists, in receiving and delivering psychological treatment for depression. METHOD:Databases were searched up to 30 April 2020 using pre-defined search terms and criteria. Articles were independently screened and assessed for risk of bias. Data were synthesised and reported in a narrative review format. RESULTS:A total of 10 studies met the inclusion criteria. Four identified studies were clinical case reports and six were quasi-experimental or experimental studies. All studies were assessed as being of moderate or high risk of bias. Participants with intellectual disability were included in four studies. There was limited data on the experiences of young people, their families or therapists in receiving or delivering psychological treatment for depression. CONCLUSIONS:Well-designed, randomised controlled trials are critical to develop an evidence base for psychological treatment for young people with intellectual disability and/or autism with depression. Future research should evaluate the treatment experiences of young people, their families and therapists. 10.1192/bjp.2020.226
    Analysis of the Diet Quality and Nutritional State of Children, Youth and Young Adults with an Intellectual Disability: A Multiple Case Study. Preliminary Polish Results. Skrzypek Michał,Koch Wojciech,Goral Karolina,Soczyńska Klaudia,Poźniak Olga,Cichoń Klaudia,Przybysz Olga,Czop Marcin Nutrients (1) Background: Considering the limited amount of available data on the diet quality of children, adolescents, and young adults with an intellectual disability (ID) in Poland, as well as the higher incidence of nutritional disorders among people with ID in comparison to the general population, a study was conducted to assess the quality of diet in community-dwelling young individuals with ID. (2) Methods: A multiple-case study was carried out to obtain data on anthropometric parameters and food records over a three-day observation period for 18 subjects with ID. The nutritional value of the products and dishes consumed by the subjects was calculated using the commercial computer program Kcalmar.pro (Hermax, Poland), which contains the Polish database of the nutritional value of food products and dishes. The results presented here are those of a pilot study of a wider research project. (3) Results: The study group consisted of seven women (38.9%) and 11 men (61.1%) with an average age of 12.94 years (range 4.00-22.00) and an average BMI of 25.2 (range 14.5-35.4). The obtained results confirmed the suboptimal pattern of nutrition in children and adolescents with ID. Regarding energy intake and dietary macronutrients, only in 27.8% of cases, energy intake exceeded the Estimated Energy Requirement corresponding to age, sex, body weight, and height. Most of the respondents were characterized by correct intake of proteins, fats, and carbohydrates, and 83.3% showed excessive intake of saturated fatty acids. Excessive intake of vitamins B1, B2, and B6 was observed in all subjects, and that of vitamins B3 (niacin), B12, A, and C in the vast majority of subjects, while deficiency of vitamin D was observed in all individuals and folic acid in 22.2% of individuals. Excessive intake of minerals, such as sodium, phosphorus, and magnesium was noted among most of the respondents, while the intake of calcium and iodine was found to be insufficient. Compared to people with less severe ID (grades 1 and 2), people with grade 3 ID showed significantly lower intake/reference fulfillment of dietary components such as vitamin B6, potassium, phosphorus, iron, copper, iodine, magnesium, and zinc. No significant differences were noted in the nutritional reference fulfillment for various nutrients among the groups distinguished by sex, nutritional status, or the cause of ID. (4) Conclusion: Health supervision guidelines proposed for persons with ID should take into account the dietary practices of the families caring for them, with an emphasis on the prevention and correction of irregularities that may reduce the effectiveness of rehabilitation and deteriorate the health of the affected people. Caregivers/parents of each person with ID who took part in the study were given individualized dietary advice aimed at correcting the dietary abnormalities. 10.3390/nu13093058
    Systematic Review and Meta-analysis: Mental Health in Children With Neurogenetic Disorders Associated With Intellectual Disability. Glasson Emma J,Buckley Nicholas,Chen Wai,Leonard Helen,Epstein Amy,Skoss Rachel,Jacoby Peter,Blackmore A Marie,Bourke Jenny,Downs Jenny Journal of the American Academy of Child and Adolescent Psychiatry OBJECTIVE:The behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents with these disorders and compare phenotypic signatures between syndromes. METHOD:MEDLINE and PsycINFO databases were searched for articles from study inception to December 2018. Eligible articles were peer reviewed, were published in English, and reported prevalence data for psychiatric disorders and symptoms in children and adolescents aged 4 to 21 years using a formal psychiatric assessment or a standardized assessment of mental health symptoms. Pooled prevalence was determined using a random-effects meta-analysis in studies with sufficient data. Prevalence estimates were compared with general population data using a test of binomial proportions. RESULTS:Of 2,301 studies identified for review, 39 articles were included in the final pool, which provided data on 4,039 children and adolescents. Ten syndromes were represented, and five were predominant: Down syndrome, 22q11.2 deletion syndrome, fragile X syndrome, Williams syndrome, and Prader-Willi syndrome. The Child Behavior Checklist was the most commonly used assessment tool for psychiatric symptoms. The pooled prevalence with total scores above the clinical threshold was lowest for Down syndrome (32% [95% confidence interval, 19%-44%]) and highest for Prader-Willi syndrome (74% [95% CI, 65%-82%]) with each syndrome associated with significantly higher prevalence than in the general population. Parallel trends were observed for the internalizing and externalizing domains and social subscale scores. CONCLUSION:Differential vulnerability for psychiatric phenotype expression across the disorders was observed. Syndromes with higher levels of social ability or competence appear to offer relative protection against developing psychopathology. This preliminary finding merits further exploration. 10.1016/j.jaac.2020.01.006
    Is Brain MRI Needed in Diagnostic Evaluation of Mild Intellectual Disability? Jussila Miro Pekka,Olsén Päivi,Niinimäki Jaakko,Suo-Palosaari Maria Neuropediatrics AIM:The purpose of our study was to suggest an imaging strategy and guidelines for the selection of the children with mild intellectual disability (ID) for magnetic resonance imaging (MRI), to avoid unnecessary imaging. METHODS:The brain MRIs and patient reports of 471 children were reviewed for the imaging findings and ID severity. The correlation between the clinical and brain MRI findings was analyzed in the 305 children with mild ID. RESULTS:Thirty-eight (12.5%) of the children with mild ID had significant abnormal brain MRI findings. Thirty-five of these had other neurological symptoms or diseases in addition to ID, which were an indication for brain MRI. In the logistic regression analysis, seizures (in patients without an epilepsy diagnosis), epilepsy, movement disorders, dysmorphia, encephalitis, traumatic brain injury, and abnormal head size were statistically significant symptoms or comorbidities associated with abnormal MRI findings. Only three children (1.0%) with mild ID had a significant MRI finding without any other clinical symptoms or disease. CONCLUSION:Routine MRI in children with mild ID without specific neurological symptoms, dysmorphic features, or related diseases is not suggested for revealing an etiology of mild ID. Since children with ID usually need to be sedated for MRI, routine imaging in the diagnostic evaluation of mild ID should be carefully considered. Clinical examination, other symptoms, and related diseases should be carefully assessed to decide the need for MRI. 10.1055/s-0040-1716902
    Evaluating the use of the Child and Adolescent Intellectual Disability Screening Questionnaire (CAIDS-Q) to estimate IQ in children with low intellectual ability. McKenzie Karen,Murray Aja Louise Research in developmental disabilities In situations where completing a full intellectual assessment is not possible or desirable the clinician or researcher may require an alternative means of accurately estimating intellectual functioning. There has been limited research in the use of proxy IQ measures in children with an intellectual disability or low IQ. The present study aimed to provide a means of converting total scores from a screening tool (the Child and Adolescent Intellectual Disability Screening Questionnaire: CAIDS-Q) to an estimated IQ. A series of linear regression analyses were conducted on data from 428 children and young people referred to clinical services, where FSIQ was predicted from CAIDS-Q total scores. Analyses were conducted for three age groups between ages 6 and 18 years. The study presents a conversion table for converting CAIDS-Q total scores to estimates of FSIQ, with corresponding 95% prediction intervals to allow the clinician or researcher to estimate FSIQ scores from CAIDS-Q total scores. It is emphasised that, while this conversion may offer a quick means of estimating intellectual functioning in children with a below average IQ, it should be used with caution, especially in children aged between 6 and 8 years old. 10.1016/j.ridd.2014.11.001
    Effectiveness of leisure and play activities for socialization skills of a child with intellectual disability - A case study. Khalid Asiya,Sarfraz Naeema JPMA. The Journal of the Pakistan Medical Association OBJECTIVE:To investigate effectiveness of leisure and play social group activities for enhancing socialisation skills in a child with intellectual disability.. METHODS:The experimental study was done at a special education school for disadvantaged children Lahore from 28th November, 2016 to 3rd February, 2017. The subject was a boy aged 17 years who was part of a leisure and play group comprising peers. Pre-rating of socialisation domain of the subject was carried out through Portage Guide to Early Education (PGEE). Atotal of 20 groups were conducted in which two sessions per week were carried out. One session of group activity lasted 25-30 minutes. Postrating was carried out after the completion of group activities.. RESULTS:There were 6 children in the play group, but the focus remained on 1(17%) subject. From pre and post rating it was evident that significant reduction in symptoms occurred in the subject, indicating effectiveness of leisure and play social groups approach.. CONCLUSIONS:Leisure and play social group activities were found to be effective in enhancing overall social skills of a child having intellectual disability.
    A pilot randomised placebo-controlled trial of cannabidiol to reduce severe behavioural problems in children and adolescents with intellectual disability. Efron Daryl,Freeman Jeremy L,Cranswick Noel,Payne Jonathan M,Mulraney Melissa,Prakash Chidambaram,Lee Katherine J,Taylor Kaitlyn,Williams Katrina British journal of clinical pharmacology AIMS:Severe behavioural problems (SBP) are a major contributor to morbidity in children with intellectual disability (ID). Medications used to treat SBP in ID are associated with a high risk of side effects. Cannabidiol has potential therapeutic effects in SBP. This pilot study aimed to investigate the feasibility of conducting a randomised placebo-controlled trial of cannabidiol to reduce SBP in children with ID. METHODS:This is a double-blind, placebo-controlled, two-armed, parallel-design, randomised controlled trial of cannabidiol in children aged 8-16 years with ID and SBP. Participants were randomised 1:1 to receive either 98% cannabidiol in oil (Tilray, Canada) or placebo orally for 8 weeks. The dose was up-titrated over 9 days to 20 mg/kg/day in two divided doses, with a maximum dose of 500 mg twice/day. The feasibility and acceptability of all study components were assessed. RESULTS:Eight children were randomised, and all completed the full study protocol. There were no serious adverse events or drop-outs. Protocol adherence for key study components was excellent: study visits 100%, medication adherence 100%, blood tests 92% and questionnaire completion 88%. Parents reported a high degree of acceptability with the study design. All parents reported they would recommend the study to other families with children with similar problems. There was an efficacy signal in favour of active drug. CONCLUSIONS:The findings suggest that the study protocol is feasible and acceptable to patients with ID and SBP and their families. 10.1111/bcp.14399
    Determinants of sleep problems in children with intellectual disability. Gilbertson Melissa,Richardson Cele,Eastwood Peter,Wilson Andrew,Jacoby Peter,Leonard Helen,Downs Jenny Journal of sleep research Children with intellectual disabilities are more likely to experience sleep disorders of insomnia, excessive daytime sleepiness and sleep breathing disorders than typically developing children. The present study examined risk factors for these sleep disorders in 447 children (aged 5-18 years), diagnosed with an intellectual disability and comorbid autism spectrum disorder, cerebral palsy, Down syndrome or Rett syndrome. Primary caregivers reported on their child's sleep using the Sleep Disturbance Scale for Children (SDSC), as well as medical comorbidities and functional abilities. Multivariate linear and logistic regressions were used to examine the effects of these factors on SDSC t scores and a binary indicator, respectively for the relevant subscales. Receiving operating characteristic curves were generated for each logistic regression model to determine their ability to discriminate between poor and good sleep. Comorbidities rather than functional abilities were associated with poorer sleep. In particular, recurrent pain, frequent seizures, frequent coughing, constipation and prescription of sleep medications were associated with abnormal sleep across the entire sample, but predictors differed between diagnostic groups. The present study suggests that comorbidities are more strongly associated with quality of sleep than functional impairments. The present study provides new information on potential associations between frequent coughing, prescription sleep medications and sleep quality that should be further investigated. 10.1111/jsr.13361
    Family Factors and Communicative Skills in Children with Autism Without Intellectual Disability. Baixauli I,Mira A,Berenguer C,Roselló B,Miranda A Journal of autism and developmental disorders The primary objective of this study was to identify the profiles of families of children with autism spectrum disorder (ASD) without intellectual disability (ID) based on several risk indicators: sociodemographic and emotional indicators, parental stress, confidant social support, and coping strategies. A second aim was to determine the differences in communicative skills between children of family subtypes empirically established according to the aforementioned risk factors. Participants were 52 Spanish mothers and their children with ASD. Through cluster analysis, three subtypes of families were identified, classifying them as "high risk, moderate risk, and little risk". The "little risk" profile showed significantly less stress and greater use of coping strategies and confidant social support. Furthermore, the children's communication exhibited better development, compared to children from the other family environments. 10.1007/s10803-019-04216-5
    Comorbidities associated with genetic abnormalities in children with intellectual disability. Chen Jia-Shing,Yu Wen-Hao,Tsai Meng-Che,Hung Pi-Lien,Tu Yi-Fang Scientific reports Intellectual disability (ID) has emerged as the commonest manifestation of underlying genomic abnormalities. Given that molecular genetic tests for diagnosis of ID usually require high costs and yield relatively low diagnostic rates, identification of additional phenotypes or comorbidities may increase the genetic diagnostic yield and are valuable clues for pediatricians in general practice. Here, we enrolled consecutively 61 children with unexplained moderate or severe ID and performed chromosomal microarray (CMA) and sequential whole-exome sequencing (WES) analysis on them. We identified 13 copy number variants in 12 probands and 24 variants in 25 probands, and the total diagnostic rate was 60.7%. The genetic abnormalities were commonly found in ID patients with movement disorder (100%) or with autistic spectrum disorder (ASD) (93.3%). Univariate analysis showed that ASD was the significant risk factor of genetic abnormality (P = 0.003; OR 14, 95% CI 1.7-115.4). At least 14 ID-ASD associated genes were identified, and the majority of ID-ASD associated genes (85.7%) were found to be expressed in the cerebellum based on database analysis. In conclusion, genetic testing on ID children, particularly in those with ASD is highly recommended. ID and ASD may share common cerebellar pathophysiology. 10.1038/s41598-021-86131-3
    The effectiveness of psychosocial interventions for children with a psychiatric disorder and mild intellectual disability to borderline intellectual functioning: A systematic literature review and meta-analysis. Kok Lidwien,van der Waa Anne,Klip Helen,Staal Wouter Clinical child psychology and psychiatry Children with intellectual disability frequently have difficulties in adapting to their environment. The extent of the experienced problems does not only depend on cognitive functioning but is influenced by other factors, such as the presence of a psychiatric disorder or other brain disorders, or adverse environmental factors. Several epidemiological studies show that children with intellectual disabilities are at an increased risk to develop psychiatric disorders. This is also true for youth with a mild intellectual disability and even those with borderline intellectual functioning (mild to borderline intellectual disability (MBID)). Psychiatric disorders are often overlooked because behavioral problems are rather attributed to the intellectual disability. Consequently, effective psychiatric interventions, which are needed to improve the level of functioning, are not applied. This review aimed to systematically evaluate the currently available, qualitatively sound research concerning the effectiveness of psychosocial interventions, specifically directed at psychiatric disorders in children with MBID. Assessed for eligibility were 1409 unique reports, and the review ultimately included only 12 reports. Review of the results and meta-analyses showed that the majority of studies suffer from multiple limitations and that methodological variations between studies are extensive. This possibly reflects the high variance of factors that may be involved in MBID. It will be important in future research to address multi-causality. 10.1177/1359104514567579
    Visual-Motor Integration in Children With Mild Intellectual Disability: A Meta-Analysis. Memisevic Haris,Djordjevic Mirjana Perceptual and motor skills Visual-motor integration (VMI) skills, defined as the coordination of fine motor and visual perceptual abilities, are a very good indicator of a child's overall level of functioning. Research has clearly established that children with intellectual disability (ID) have deficits in VMI skills. This article presents a meta-analytic review of 10 research studies involving 652 children with mild ID for which a VMI skills assessment was also available. We measured the standardized mean difference (Hedges' g) between scores on VMI tests of these children with mild ID and either typically developing children's VMI test scores in these studies or normative mean values on VMI tests used by the studies. While mild ID is defined in part by intelligence scores that are two to three standard deviations below those of typically developing children, the standardized mean difference of VMI differences between typically developing children and children with mild ID in this meta-analysis was 1.75 (95% CI [1.11, 2.38]). Thus, the intellectual and adaptive skill deficits of children with mild ID may be greater (perhaps especially due to their abstract and conceptual reasoning deficits) than their relative VMI deficits. We discuss the possible meaning of this relative VMI strength among children with mild ID and suggest that their stronger VMI skills may be a target for intensive academic interventions as a means of attenuating problems in adaptive functioning. 10.1177/0031512518774137
    Parental styles and attitudes of fathers of children and adolescents with intellectual disability: Do parental styles and attitudes impact children's adaptive behaviour? Sabat Camila,Burke Meghan M,Arango Paulina Journal of applied research in intellectual disabilities : JARID BACKGROUND:There is little literature that has explored the paternal role among children with intellectual disabilities. The aim of the study is to characterise parental attitudes and styles of fathers of children with intellectual disabilities, and to analyse their relation to the children's adaptive behaviour. METHOD:Eighty-three families (fathers and mothers) answered self-report questionnaires, which assessed parenting styles and attitudes, as well as an adaptive behaviour questionnaire about their children with intellectual disabilities between 4 and 18 years of age. RESULTS:Both parents have a tendency towards an authoritative style of parenting. Fathers (versus mothers) perceive greater parental support but are less involved in their children's lives. Among fathers, the authoritative style was a significant contributor to the child's adaptive behaviour, above and beyond the mother's contribution. CONCLUSIONS:Studies about parenting should include both mothers and fathers, as paternal parenting styles and attitudes are related to children's adaptive behaviour. 10.1111/jar.12885
    Role of orff music therapy in improving auditory processing skills in children with intellectual disability. Nigerian journal of clinical practice BACKGROUND:Orff Music Therapy improves auditory processing, language, and cognitive functions in children who have Intellectual Disability (ID). AIMS:In literature, there are no studies from the auditory processing skills reviewing perspective. The current study examined the role of Orff Music Therapy in terms of auditory processing skills of children who have ID. METHOD:Twenty-nine children who have ID were subjected in a 6-week Orff Music Therapy program. RESULTS:The mean musical assessment scores improved after Orff Music Therapy. The total Listening Inventory (TLI) scores before Orff Music Therapy were considered to be risky above the cut-off level for children who have ID. The criterion cutoff scores show if the child's behaviors may indicate a disorder or dysfunction. The TLI scores were reduced after Orff Music Therapy, which means there was an improvement in auditory processing skills. CONCLUSION:Auditory processing skills are essential for children who have ID. If a child who has ID has been identified as having auditory processing disorder (APD), there is a need for a proven therapeutic approach, like Orff Music Therapy. It has been considered that ID and APD can be linked in the same category of neurodevelopmental disorders. 10.4103/njcp.njcp_410_20
    Reported Wandering Behavior among Children with Autism Spectrum Disorder and/or Intellectual Disability. Rice Catherine E,Zablotsky Benjamin,Avila Rosa M,Colpe Lisa J,Schieve Laura A,Pringle Beverly,Blumberg Stephen J The Journal of pediatrics OBJECTIVE:To characterize wandering, or elopement, among children with autism spectrum disorder (ASD) and intellectual disability. STUDY DESIGN:Questions on wandering in the previous year were asked of parents of children with ASD with and without intellectual disability and children with intellectual disability without ASD as part of the 2011 Survey of Pathways to Diagnosis and Services. The Pathways study sample was drawn from the much larger National Survey of Children with Special Health Care Needs conducted in 2009-2010. RESULTS:For children with special healthcare needs diagnosed with either ASD, intellectual disability, or both, wandering or becoming lost during the previous year was reported for more than 1 in 4 children. Wandering was highest among children with ASD with intellectual disability (37.7%) followed by children with ASD without intellectual disability (32.7%), and then children with intellectual disability without ASD (23.7%), though the differences between these groups were not statistically significant. CONCLUSIONS:This study affirms that wandering among children with ASD, regardless of intellectual disability status, is relatively common. However, wandering or becoming lost in the past year was also reported for many children with intellectual disability, indicating the need to broaden our understanding of this safety issue to other developmental disabilities. 10.1016/j.jpeds.2016.03.047
    The Study of Spatial Safety and Social Psychological Health Features of Deaf Children and Children with an Intellectual Disability in the Public School Environment Based on the Visual Access and Exposure (VAE) Model. Ma Ning,Ma Sa,Li Shuangjin,Ma Shuang,Pan Xinzhi,Sun Guohui International journal of environmental research and public health Nowadays, there is increasing attention towards the safety and feelings of children in urban or architectural space. In this study, the authors suggest a new approach based on the Visual Access and Exposure (VAE) Model to evaluate the spatial safety and social psychological health features of deaf children and children with an intellectual disability in the public school environment. The authors present a preliminary study of deaf children and children with an intellectual disability in a primary school located in Deyang by measuring the visual exposure and visual access in the public environment. The results illustrate that there are a few spaces, such as a long corridor and the space behind the elevators, that are not very safe for deaf children and children with an intellectual disability. In terms of social psychosocial preference, this special group prefers to stay in low visual access areas, which may be influenced by their introverted and impaired social communication ability. This study could have implications for the existence and optimization of an architecture design for relevant groups. With the increase in school bullying incidents and public psychological health problems related to youth, this approach could be used widely in the area of school safety and public psychological health management. 10.3390/ijerph18084322
    Prevalence and outcomes of heart transplantation in children with intellectual disability. Wightman Aaron,Bartlett Heather L,Zhao Qianqian,Smith Jodi M Pediatric transplantation Heart transplantation in children with intellectual disability is a controversial issue. We sought to describe the prevalence and outcomes of heart transplantation in children with intellectual disability and hypothesized that recipients with intellectual disability have comparable short-term outcomes compared to recipients without intellectual disability. We performed a retrospective cohort analysis of children receiving a first heart-alone transplant in the UNOS STAR database from 2008 to 2013. Recipients with intellectual disability were compared to those without using chi-square tests. Kaplan-Meier curves were constructed for patient and graft survival. Cox proportional hazard models were used to estimate the association between intellectual disability and graft failure and patient survival. Over the study period, 107 children with intellectual disability underwent initial heart transplantation, accounting for 8.9% of first pediatric heart transplants (total=1204). There was no difference in the incidence of acute rejection between groups in the first year after transplant. Mean functional status scores at follow-up improved in both groups after transplantation, but tended to be lower among children with intellectual disability than children without. Log-rank tests did not suggest significant differences in graft survival between those with and without intellectual disability during the first 4 years following transplantation. Children with intellectual disability constitute a significant portion of total heart transplants with short-term outcomes comparable to children without intellectual disability. 10.1111/petr.12839
    Daily living skills in children with autism spectrum disorder and intellectual disability: A comparative study from Turkey. Kilincaslan Ayse,Kocas Sule,Bozkurt Sumeyye,Kaya Ilyas,Derin Songül,Aydin Resa Research in developmental disabilities BACKGROUND:Better daily living skills (DLS) are associated with increased independence and positive functional outcomes in Autism Spectrum Disorder (ASD). METHOD:The present study aimed to investigate daily living skills (DLS) and the associated factors in 51 children with ASD and intellectual disability (ASD group) and 51 age- and gender-matched controls with intellectual disability (ID group). The severity of the autistic symptoms was measured with the clinician-rated Childhood Autism Rating Scale and the parent-reported Autism Behavior Checklist (ABC) in all children. The mothers also completed the Pediatric Quality of Life Inventory and the Basic DLS Questionnaire. RESULTS:The ASD group scored lower than the comparison group in the total DLS score, personal hygiene, dressing, safety and interpersonal skills, despite being comparable in the parent-reported quality of life. Regression analysis of the whole sample demonstrated that the child's age, intellectual level, speech level, autism symptom severity and the monthly household income were independent correlates of the total DLS. Exploratory analyses for each group revealed differential effects of these variables: in the ASD group; a higher speech level and monthly income, while in the ID group; an older age, a higher intellectual level and monthly income and a lower ABC score emerged as significant predictors of higher DLS. CONCLUSIONS:Deficient DLS in Turkish children with ASD, given their IQ, suggest that lower level of adaptive skills is inherent in ASD, rather than culture-specific to US and Western Europe. 10.1016/j.ridd.2018.12.005
    Psychological well-being of fathers with and without a child with intellectual disability: a population-based study. Langley E,Totsika V,Hastings R P Journal of intellectual disability research : JIDR BACKGROUND:Few studies have explored the well-being of fathers of children with intellectual disability (ID), despite the significant role that they play in their children's lives. The current study compared fathers of children with and without a child with ID on measures of psychological well-being (life satisfaction, work-family balance and general health) and dimensions of parenting (parenting self-efficacy and parent-child closeness) and then examined whether the presence of a child with ID in the family was a significant predictor of paternal well-being when controlling for a number of father (age, education, employment and residency), child (ID status, gender, behavioural and emotional problems) and family (income poverty and number of children in the household) variables. METHODS:Data were drawn from the third wave of the Millennium Cohort Study, a UK population-representative and cohort study, where the cohort child was 5 years of age; 256 fathers were identified as having a child with ID, with data available for 10 187 fathers without a child with ID. Fathers were compared on the four well-being and parenting outcomes and then multiple regression models were conducted to explore associations between these outcomes and variables identified as potential correlates of well-being. RESULTS:Initial group comparisons showed that there were differences in the well-being of fathers, with fathers of children with ID reporting poorer life satisfaction and general health. However, these differences were small. Regression analyses showed that child behavioural and emotional problems, living in income poverty and paternal employment were more important than disability status in predicting fathers' well-being. CONCLUSIONS:These works add to the limited amount of research on fathers using population-representative data. The current findings are consistent with rejecting a general simplistic and negative narrative that raising a child with ID puts fathers at risk of poorer outcomes. However, some fathers, such as those with children with behavioural problems and living in poverty, may require greater support. Future longitudinal research that explores the impact of paternal well-being on the long-term outcomes of children with and without ID is warranted. 10.1111/jir.12692
    Peer victimization and its relationship to self-esteem in children with mild intellectual disability and borderline intellectual functioning in regular and special schools: An exploratory study in urban Bengaluru. Nambiar Priyanka,Jangam Kavita,Roopesh B N,Bhaskar Adhin Journal of intellectual disabilities : JOID The Research in the field of mental health and educational needs of children with intellectual disabilities has increased over the years. However, the focus on milder disabilities such as mild intellectual disability and borderline intellectual functioning (MBID; intelligence quotient: 50-85) is still limited. The current study aimed at understanding peer victimization and its relationship to the self-esteem of children with MBID in regular and special schools. The study utilized a cross-sectional research design with a sample of 40 children who met the inclusion criteria. On analysis, the results showed that peer victimization was more common in regular schools ( = 51, ≤ 0.001), wherein the peer victimization had a significant negative correlation with their self-esteem ( = -0.536, ≤ 0.001). Overall, the findings implied the need for promotion of inclusive education in regular schools by sensitization against peer victimization of children with disabilities. 10.1177/1744629519831573
    Genetic causes of intellectual disability in a birth cohort: a population-based study. Karam Simone M,Riegel Mariluce,Segal Sandra L,Félix Têmis M,Barros Aluísio J D,Santos Iná S,Matijasevich Alicia,Giugliani Roberto,Black Maureen American journal of medical genetics. Part A Intellectual disability affects approximately 1-3% of the population and can be caused by genetic and environmental factors. Although many studies have investigated the etiology of intellectual disability in different populations, few studies have been performed in middle-income countries. The present study estimated the prevalence of genetic causes related to intellectual disability in a cohort of children from a city in south Brazil who were followed from birth. Children who showed poor performance in development and intelligence tests at the ages of 2 and 4 were included. Out of 4,231 liveborns enrolled in the cohort, 214 children fulfilled the inclusion criteria. A diagnosis was established in approximately 90% of the children evaluated. Genetic causes were determined in 31 of the children and 19 cases remained unexplained even after extensive investigation. The overall prevalence of intellectual disability in this cohort due to genetic causes was 0.82%. Because this study was nested in a cohort, there were a large number of variables related to early childhood and the likelihood of information bias was minimized by collecting information with a short recall time. This study was not influenced by selection bias, allowing identification of intellectual disability and estimation of the prevalence of genetic causes in this population, thereby increasing the possibility of providing appropriate management and/or genetic counseling. 10.1002/ajmg.a.37011
    Health-related quality of life amongst primary caregivers of children with intellectual disability. Arora S,Goodall S,Viney R,Einfeld S, Journal of intellectual disability research : JIDR BACKGROUND:Children with intellectual disability (ID) frequently have significant educational, social and health care needs, resulting in caregivers often experiencing a wide range of negative effects. This paper aims to determine the impact of childhood ID on caregivers' health-related quality of life (HRQoL) across co-morbid diagnostic groups. The second aim of this study is to determine the risk factors associated with lower HRQoL in this population. METHODS:Caregivers of a child with ID aged between 2 and 12 years old completed an online survey to determine their HRQoL using the EQ-5D-5L measure. They were also asked demographic questions and about their dependent child's level of behavioural and emotional difficulties. RESULTS:Of the total sample of 634 caregivers, 604 caregivers completed all five questions of the EQ-5D-5L. The mean age of caregivers was 39.1 years and 91% were women. Caregivers spent on average 66.6 h per week caring for their child related to their child's disability. The mean EQ-5D-5L score of caregivers was 0.80 (95% confidence interval: 0.79, 0.82), which is below the estimated Australian population norms (mean utility score of 0.92) for the age-equivalent population. Caregivers of children with autism spectrum disorders reported the lowest HRQoL (0.77, 95% confidence interval: 0.74, 0.79) of the five included co-morbid diagnostic groups. Caregivers with a lower income, a perceived low level of social support and children with higher degree of behavioural and emotional problems were likely to have a statistically lower HRQoL. CONCLUSIONS:This is the first study to produce utility values for caregivers of children with ID. The utility values can be used to compare health states and can be used to inform comparative cost-effectiveness analyses. Demonstrating that caregivers of children with ID have reduced HRQoL and that this is associated with the degree of behavioural and emotional problems has important policy implications, highlighting the potential for policy interventions that target behavioural and emotional problems to improve outcomes for caregivers. 10.1111/jir.12701
    Exploring co-occurrence of sensory, motor and neurodevelopmental problems and epilepsy in children with severe-profound intellectual disability. Rensfeldt Flink Anna,Boström Petra,Gillberg Christopher,Lichtenstein Paul,Lundström Sebastian,Åsberg Johnels Jakob Research in developmental disabilities BACKGROUND:Severe to profound intellectual disability (SPID) is associated with multiple neurodevelopmental disorders and problems. In the most severe cases, the term profound intellectual and multiple disabilities (PIMD) is used. This study aimed to explore the co-occurring disorders and neurodevelopmental problems in a sample of twins where the proband had SPID. METHOD:Within a population-based sample of (30 312) twins, 20 individuals with a national patient register SPID diagnosis were identified. Parent telephone interview data (screening of neurodevelopmental disorders) and register data (APGAR, birth weight, intellectual disabilities, epilepsy, motor and sensory disorders) were gathered for probands and co-twins. RESULTS:The 20 individuals with SPID all had between one and five additional disorders or problems, with autistic traits, motor problems and epilepsy being the most common. Clear discordance was found for ID and all additional disorders and problems between probands with SPID and their non-SPID co-twins. CONCLUSION:Children with SPID almost never present without neurodevelopmental and/or sensory and/or motor comorbidities. This heterogeneity should be reflected in clinical routine and in research targeting individuals with SPID. The results support a previously suggested conceptualization of a S/PIMD "spectrum". Autism may be considered for inclusion in future elaborations of such a S/PIMD spectrum. 10.1016/j.ridd.2021.104114
    Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability. Lee Jin Sook,Hwang Hee,Kim Soo Yeon,Kim Ki Joong,Choi Jin Sun,Woo Mi Jung,Choi Young Min,Jun Jong Kwan,Lim Byung Chan,Chae Jong Hee Annals of laboratory medicine BACKGROUND:Chromosomal microarray (CMA) testing is a first-tier test for patients with developmental delay, autism, or congenital anomalies. It increases diagnostic yield for patients with developmental delay or intellectual disability. In some countries, including Korea, CMA testing is not yet implemented in clinical practice. We assessed the diagnostic utility of CMA testing in a large cohort of patients with developmental delay or intellectual disability in Korea. METHODS:We conducted a genome-wide microarray analysis of 649 consecutive patients with developmental delay or intellectual disability at the Seoul National University Children's Hospital. Medical records were reviewed retrospectively. Pathogenicity of detected copy number variations (CNVs) was evaluated by referencing previous reports or parental testing using FISH or quantitative PCR. RESULTS:We found 110 patients to have pathogenic CNVs, which included 100 deletions and 31 duplications of 270 kb to 30 Mb. The diagnostic yield was 16.9%, demonstrating the diagnostic utility of CMA testing in clinic. Parental testing was performed in 66 patients, 86.4% of which carried de novo CNVs. In eight patients, pathogenic CNVs were inherited from healthy parents with a balanced translocation, and genetic counseling was provided to these families. We verified five rarely reported deletions on 2p21p16.3, 3p21.31, 10p11.22, 14q24.2, and 21q22.13. CONCLUSIONS:This study demonstrated the clinical utility of CMA testing in the genetic diagnosis of patients with developmental delay or intellectual disability. CMA testing should be included as a clinical diagnostic test for all children with developmental delay or intellectual disability. 10.3343/alm.2018.38.5.473
    Comorbidities and quality of life in children with intellectual disability. Reddihough Dinah,Leonard Helen,Jacoby Peter,Kim Rachel,Epstein Amy,Murphy Nada,Reid Sue,Whitehouse Andrew,Williams Katrina,Downs Jenny Child: care, health and development BACKGROUND:Many children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met. METHODS:Primary caregivers of 447 children (aged 5-19 years) with an intellectual disability reported on their child's medical comorbidities and the extent to which they perceived their child's medical needs had been met in a cross-sectional observational study. The Quality of Life Inventory-Disability was used to measure QOL on a 100-point scale. Linear regression models including interaction terms were used to evaluate their associations. RESULTS:Parent-reported recurrent child pain (-4.97, 95% CI -8.21, -1.72), night-time sleep disturbances (-4.98, 95% CI -7.23, -2.73), daytime somnolence (-8.71, 95% CI -11.30, -2.73), seizures that occurred at least weekly (-7.59, 95% CI -13.50, -1.68) and conservatively managed severe scoliosis (-7.39, 95% CI -12.97, -1.81) were negatively associated with child QOL. Despite the majority of parents (~70%) perceiving that their child's medical needs had been met to a great extent, this did not significantly moderate the association between any comorbidities and QOL. CONCLUSIONS:Comorbidities were common and had marked associations with QOL. Evaluation and management of pain and sleep disturbance continue to be high priorities in improving QOL of young people with intellectual disabilities. Further research on the optimal methods of managing these comorbidities is warranted. 10.1111/cch.12873
    Beginning reading interventions for children and adolescents with intellectual disability. Reichow Brian,Lemons Christopher J,Maggin Daniel M,Hill David R The Cochrane database of systematic reviews BACKGROUND:Historically, students with intellectual disability were not expected to learn to read, and thus were excluded from reading instruction. Over the past decades, societal expectations for this group of learners have changed in that children and adolescents with intellectual disability are now expected to be provided with, and benefit from, literacy instruction. This shift in societal expectations has also led to an increase in research examining effective interventions for increasing beginning reading skills for students with intellectual disability. OBJECTIVES:To assess the effectiveness of interventions for teaching beginning reading skills to children and adolescents with intellectual disability. SEARCH METHODS:We searched the following electronic databases up to October 2019: CENTRAL; MEDLINE, including Epub Ahead of Print and In-Process and Other Non-Indexed Citations, Embase, 13 other databases, and two trials registers. We contacted authors of included studies, examined reference lists, and used Google Scholar to search for additional studies. SELECTION CRITERIA:We included randomized controlled trials (including trials that use quasi-random methods of allocation such as date of birth), involving children and adolescents with intellectual disability (defined as an intelligence quotient (IQ) two standard deviations or more below the population mean) between the ages of 4 and 21 years, that evaluated the efficacy of a beginning reading intervention compared to a control intervention, including no treatment control, wait-list control, treatment as usual, attention control, or alternate non-reading instruction control. DATA COLLECTION AND ANALYSIS:Two review authors independently screened titles and abstracts yielded by the search against the inclusion criteria, and extracted data from each trial using a piloted data extraction form to collect information about the population, intervention, randomization methods, blinding, sample size, outcome measures, follow-up duration, attrition and handling of missing data, and methods of analysis. When data were missing, one review author contacted the study authors to request additional information. Two review authors assessed the risk of bias of each included study and rated the quality of the evidence using the GRADE approach (a systematic method for rating the certainty of evidence in meta-analyses). We conducted random-effect meta-analyses, with inverse-variance weighting to combine effect sizes for each of our primary and secondary outcomes. We presented effect sizes as standardized mean differences (SMD) with 95% confidence intervals (CI). MAIN RESULTS:We identified seven studies involving 352 children and adolescents with intellectual disabilities that met the inclusion criteria. All studies provided the intervention in school settings. Four studies were conducted in the USA, one in Canada, and two in the UK. Three studies were funded by grants from the US Department of Education, Institute of Education Sciences; one study by the Canadian Language and Literacy Research Network and the Nova Scotia Health Research Foundation; and three studies did not indicate a funding source. We identified some concerns with risk of bias, mainly due to the difficulty of blinding of participants and personnel, and the lack of blinding of outcome assessors. Meta-analyses of the data demonstrated small-to-moderate effects of beginning reading interventions delivered to children and adolescents with intellectual disability across four dependent variables. We found medium effect sizes in favor of the beginning reading interventions for the primary outcomes of phonologic awareness (SMD 0.55, 95% CI 0.23 to 0.86; 4 studies, 178 participants; moderate-quality evidence), word reading (SMD 0.54, 95% CI 0.05 to 1.03; 5 studies, 220 participants; moderate-quality evidence), and decoding (SMD 0.40, 95% CI 0.12 to 0.67; 5 studies, 230 participants; low-quality evidence). The studies reported no adverse events. We also found a moderate effect for the secondary outcomes of oral reading fluency (SMD 0.65, 95% CI -0.12 to 1.42; 2 studies, 84 participants; low-quality evidence) and language skills (SMD 0.28, 95% CI 0.03 to 0.54; 3 studies, 222 participants; moderate-quality evidence). AUTHORS' CONCLUSIONS:Results from this review provide evidence that beginning reading interventions that include elements of phonologic awareness, letter sound instruction, and decoding, delivered to children and adolescents with intellectual disability, are associated with small-to-moderate improvements in phonologic awareness, word reading, decoding, expressive and receptive language, and oral reading fluency. These findings are aligned with previously conducted studies that examined the effects of reading interventions for people without intellectual disability. 10.1002/14651858.CD011359.pub2
    Creating equitable healthcare quality and safety for children with intellectual disability in hospital. Mimmo Laurel,Woolfenden Susan,Travaglia Joanne,Harrison Reema Child: care, health and development Children with intellectual disability are susceptible to poor experiences of care and treatment outcomes, and this may compound existing health inequities. Evidence to date indicates three priority areas that must be addressed in order to reduce these inequities in the safety and quality of care for children with intellectual disability. Firstly, we need reliable methods to identify children with intellectual disability so that healthcare organizations understand their needs. Secondly, we need to develop quality metrics that can assess care quality and unwarranted care variation for children with intellectual disability in hospital. Finally, for a comprehensive understanding of the safety and quality of care for these children, and how to improve, it is critical that healthcare organizations partner with parents/carers and enable children with intellectual disability to voice their experiences of care. Children with intellectual disability have higher healthcare utilization than their peers; yet, their voice is rarely sought to optimize the safety and quality of their healthcare experience. Patient experience narratives enhance our understanding of the genesis of adverse events. By addressing these priorities, children with intellectual disability will be identified, and health services will measure and understand the problematic and beneficial variations in care delivery and can then effectively partner with children and their parents/carers to address the inequities in care quality and create safer healthcare. 10.1111/cch.12787
    [Intellectual disability and cancer in children: An analysis of the decision-making process]. Dangles Marie-Thérèse,Davous Dominique,Vialle Guénola,Auvrignon Anne,Angellier Elisabeth,Bourdeaut Franck Bulletin du cancer AIM:The aim was to describe and to analyze the ethics of decision-making in situations involving children with intellectual disability and cancer, from the referent-doctor's point-of-view, in pediatric oncology units in France. METHODS:Pediatricians working in pediatric oncology units were interviewed through an online questionnaire and a semi-directive interview was systematically proposed. We analyzed the ethical issues that arose during the process of decision-making and we made suggestions in order to address them. RESULTS:Sixteen doctors reported twenty-one clinical cases. Of these cases, one third of the children had a change in their oncologic treatment, with a risk of pejorative outcome on the prognosis. Despite the fact that ethical issues appeared in 80 % of the cases, there were few consultations with ethical committees. Decision-making process showed no difference compared to children without intellectual disability, thus raising ethical issues in the medical team. Our study showed discrepancy between frequently reported ethical issues, high consensus rate regarding treatment decision and lack of consultation with ethical committees. DISCUSSION:We propose three steps to guide the decision-making process in situations involving children with intellectual disability and cancer: 1/deeper understanding of the child through reinforced interactions with their caregivers, 2/better cross-boundary discussions, to improve the effectiveness of the multidisciplinary staff, and 3/more systematic ethical committees consultation. 10.1016/j.bulcan.2021.02.013
    Using a dual-task paradigm to investigate motor and cognitive performance in children with intellectual disability. Kachouri Hiba,Laatar Rabeb,Borji Rihab,Rebai Haithem,Sahli Sonia Journal of applied research in intellectual disabilities : JARID BACKGROUND:The purpose of the current study was to evaluate the effects of dual-task (DT) constraints on walking performance in children with intellectual disability (ID). METHODS:Fifteen children with intellectual disability and fifteen age-matched typically developed children were asked to walk at a preferred speed: along a path (baseline condition), while carrying a glass of water and while quoting animal names. RESULTS:The present study findings showed that DTs affect walking performance of both typically developed children and those with intellectual disability. In children with intellectual disability, DT walking decrements were significantly higher when performing a concurrent motor task than cognitive one. CONCLUSIONS:DT constraints with a secondary motor or cognitive tasks seemed challenging for children with intellectual disability suggesting that future treatments or assessments should consider using DT constraints to manipulate the difficulty of tasks. 10.1111/jar.12655
    Prevalence estimates of mental health problems in children and adolescents with intellectual disability: A systematic review and meta-analysis. Buckley Nicholas,Glasson Emma J,Chen Wai,Epstein Amy,Leonard Helen,Skoss Rachel,Jacoby Peter,Blackmore Amanda Marie,Srinivasjois Ravisha,Bourke Jenny,Sanders Richard J,Downs Jenny The Australian and New Zealand journal of psychiatry BACKGROUND:Children and adolescents with intellectual disability are at risk of developing psychiatric symptoms and disorders; yet, the estimates reported in the literature have been inconsistent, presenting a potential barrier for service planning and delivery. Sources of variability could arise from differences in measurement instruments as well as subgroup membership by severity of intellectual disability, gender and age. This systematic review aimed to address these gaps. METHOD:MEDLINE and PsycINFO databases were searched from inception to 2018 and selected studies were reviewed. Studies were included if they reported point prevalence estimates of mental health symptomology or diagnoses in a general population of 6- to 21-year-old individuals with intellectual disability. The Joanna Briggs Institute Prevalence Critical Appraisal Checklist was applied to eligible papers to appraise their scientific strength. Pooled prevalence for mental health symptomology was determined using a random-effects meta-analysis. RESULTS:A total of 19 studies were included, including 6151 children and adolescents. The pooled prevalence estimate captured by the Developmental Behaviour Checklist was 38% (95% confidence interval = [31, 46]), contrasting with 49% (95% confidence interval = [46, 51]) captured by the Child Behaviour Checklist; both rates were higher than a non-intellectual disability population. Severity of intellectual disability did not significantly influence the Developmental Behaviour Checklist risks. Insufficient data were available to conduct statistical analyses on the effects of age, gender and socioeconomic status. Of diagnosed psychiatric disorders, attention deficit/hyperactivity disorder (30%), conduct disorder (3-21%) and anxiety disorders (7-34%) were the most prevalent conditions. CONCLUSION:This review consists of the largest sample hitherto evaluated. In the intellectual disability population, mental health comorbidities could be better detected by a symptom phenotype than a psychiatric diagnostic phenotype. Crucially, future research needs to address the effect of measurement validity in the intellectual disability population. Estimated prevalence rates were high compared to the general population, indicating the importance of systematic screening, case detection and appropriate management. 10.1177/0004867420924101
    [The diagnostic value of chromosome microarray analysis technique in the genetic causes of children with intellectual disability or global developmental delay]. Wu H R,Li L,Ma Y N,Liu C L,Pei P,Zheng X F,Wang S T,Xiao Y,Bu D F,Xu Y F,Pan H,Qi Y Zhonghua yi xue za zhi To study the value of chromosome microarray analysis (CMA) application in children with developmental delay (DD), intellectual disability (ID), autistic spectrum disorder (ASD) and multiple congenital anomalies (MCA). Genomic DNA was extracted from peripheral blood samples. Array-based comparative genomic hybridization (array-CGH) analysis and single nucleotide polymorphism array (SNP-array) were performed in 1 320 children with DD/ID, ASD, with or without epilepsy and MCA who were admitted to Peking University First Hospital from 2014 to 2019. The results of genetic etiology test of CMA in children with mental retardation or global DD was summarized. Of 1 320 samples, there were 10 cases of aneuploid abnormality, 6 cases of uniparental disomy and one case of mosaicism, respectively. Pathogenic copy number variations (CNVs) were found in 320 cases and pathogenic CNVs were detected in 23 cases, with a combined detection rate of 26% (343/1 320). CNVs of uncertain clinical significance occurred in 107 cases, accounting for 8.1% (107/1 320). There were 25 cases of possible benign CNVs, accounting for 2% (25/1 320), while benign CNVs were reported in 20 cases, accounting for 1.5% (20/1 320). The detection rate of MCA with DD/ID was 39.8% (130/327). CMA has the advantages of high resolution and covering the whole genome. It can detect the chromosomal abnormalities, microdeletions and duplications seen under the microscope, thus the genetic etiology of children with mental retardation or global DD can be diagnosed. 10.3760/cma.j.cn112137-20200422-01275
    Adverse outcomes after major surgery in children with intellectual disability. Huang Shih-Yu,Chang Chuen-Chau,Lin Chao-Shun,Yeh Chun-Chieh,Lin Jui-An,Cherng Yih-Giun,Chen Ta-Liang,Liao Chien-Chang Developmental medicine and child neurology AIM:To evaluate outcomes after major surgery in children and adolescents with intellectual disability. METHOD:We used 2004 to 2013 claims data from Taiwan's National Health Insurance programme to conduct a nested cohort study, which included 220 292 surgical patients aged 6 to 17 years. A propensity score matching procedure was used to select 2173 children with intellectual disability and 21 730 children without intellectual disability for comparison. Logistic regression was used to calculate the adjusted odds ratios (ORs) and 95% confidence intervals (CIs) of the postoperative complications and 30-day mortality associated with intellectual disability. RESULTS:Children with intellectual disability had a higher risk of postoperative pneumonia (OR 2.16, 95% CI 1.48-3.15; p<0.001), sepsis (OR 1.67, 95% CI 1.28-2.18; p<0.001), and 30-day mortality (OR 2.04, 95% CI 1.05-3.93; p=0.013) compared with children without intellectual disability. Children with intellectual disability also had longer lengths of hospital stay (p<0.001) and higher medical expenditure (p<0.001) when compared with children with no intellectual disability. INTERPRETATION:Children with intellectual disability experienced more complications and higher 30-day mortality after surgery when compared with children without intellectual disability. There is an urgent need to revise the protocols for the perioperative care of this specific population. WHAT THIS PAPER ADDS:Surgical patients with intellectual disability are at increased risk of postoperative pneumonia, sepsis, and 30-day mortality. Intellectual disability is associated with higher medical expenditure and increased length of stay in hospital after surgical procedures. The influence of intellectual disability on postoperative outcomes is consistent in both sexes and those aged 10 to 17 years. Low income and a history of fractures significantly impacts postoperative adverse events for patients with intellectual disability. 10.1111/dmcn.14715
    Venipuncture activates the cerebral cortex in children with intellectual disability. Bembich Stefano,Morabito Giuliana,Simeon Valentina,Strajn Tamara,Rutigliano Rosaria,Di Rocco Paola,Cont Gabriele,Risso Francesco Maria,Peri Francesca,Barbi Egidio Archives of disease in childhood OBJECTIVE:To evaluate the pattern of cortical activation during a painful procedure, such as a venipuncture, in children with intellectual disability and compare it with that of cognitively healthy children. STUDY DESIGN AND SETTING:A cohort study was conducted and cortical activation was assessed by multichannel cerebral near-infrared spectroscopy to monitor variations in oxyhaemoglobin and deoxyhaemoglobin (Hbb) in children with and without intellectual disability during a venipuncture for blood sampling with topical anaesthesia. Pain and distress were assessed as well using different validated pain scales (visual analogue scale and Non-Communicating Children's Pain Checklist-Postoperative Version for children with intellectual disability), and compared between groups. PARTICIPANTS:16 children with severe to profound intellectual disability and 20 cognitively healthy peers (age range: 4-17 years). RESULTS:When Hbb was analysed, children with intellectual disability exhibited a bilateral activation of the somatosensory (p<0.006) and right motor cortex (p=0.0045), whereas cognitively healthy peers never showed a cortical activation. Children with intellectual disability also showed more pain than controls (p=0.001). CONCLUSIONS:When subjected to a painful procedure, only children with intellectual disability show an activation of the cerebral cortex, even if topical anaesthesia is applied, and express more pain than cognitively healthy peers. The role of other issues in painful procedures, such as anxiety, fear or physical restraint, deserves further investigation. 10.1136/archdischild-2019-318695
    Risk factors for intellectual disability in children with spastic cerebral palsy. Cummins David,Kerr Claire,McConnell Karen,Perra Oliver Archives of disease in childhood BACKGROUND:Cerebral palsy (CP) is a non-progressive disorder of posture and movement caused by prenatal or perinatal lesions of the brain. Children with CP are also at increased risk of other disabilities, for example, intellectual disability. Previous studies suggest the risk of intellectual disability varies in complex ways according to the type of motor impairment and perinatal factors such as gestational age. OBJECTIVE:To determine the patterns of risk of intellectual disability in children with spastic CP. DESIGN:Cross-sectional, population-based study using the Northern Ireland Cerebral Palsy Register. PARTICIPANTS:Persons born in 1981-2008 with congenital bilateral or unilateral spastic CP (N=1452). OUTCOME MEASURE:The outcome measure was severe intellectual disability (IQ <50), as reported by clinicians known to the child. Data pertaining to CP subtype, sex, gestational age, birth weight and functional level were included in analyses. RESULTS:Severe intellectual disability was significantly more prevalent in children with bilateral spastic CP (BSCP) compared with children with unilateral spastic CP (χ² (2)=162.60, p<0.001). Compared with very preterm infants with BSCP, the risk of intellectual disability increased in moderately preterm (OR=3.97, 95% CI 1.04 to 15.23) and at-term (OR=2.51, 95% CI 1.16 to 5.44) children with BSCP. CONCLUSIONS:Children with BSCP are at increased risk of intellectual disability, with those born at term at the highest risk. The findings highlight the importance of early screening, particularly for children with BSCP born at term. 10.1136/archdischild-2020-320441