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  1. 11421
    “…IMPORTANCE: Although birth defects in children with congenital Zika syndrome (CZS) are expected to result in significant intellectual disabilities, the extent of delay and profiles of development have yet to be fully described. …”
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    Developmental Outcomes Among Young Children With Congenital Zika Syndrome in Brazil
  2. 11422
    “…Significant clinical symptoms of Cohen syndrome (CS), a rare autosomal recessive disorder, include intellectual disability, facial dysmorphism, postnatal microcephaly, retinal dystrophy, and intermittent neutropenia. …”
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    Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations
  3. 11423
    “…Past medical history includes T2DM with peripheral neuropathy, hypertension, hypercholesterolemia, intellectual disability, anxiety, recurrent genitourinary infections, sleep apnea. …”
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    SUN-691 Type 2 Diabetes Management in the Context of Smith-Magenis Syndrome: Case Report
  4. 11424
    “…Obesity onset <5 years (p = 0.04) and hyperphagia (p = 0.001) were indicators of underlying genetic causes, but only in patients without intellectual disability (ID). Patients with genetic obesity with ID more often had a history of neonatal feeding problems (p = 0.003) and short stature (p = 0.005). …”
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    Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center
  5. 11425
    “…Studies of other neurodevelopmental disorders, such as autism spectrum disorder (ASD), Tourette disorder, developmental delay/intellectual disability and schizophrenia indicate that identification of specific risk alleles and additional insights into disorder biology can be gained by studying non-inherited de novo variation. …”
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    A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder
  6. 11426
    “…Homozygous mutations (del exon 9–13) in the pseudokinase STE20-related kinase adaptor alpha (STRAD-α; STRADA), an mTOR modulator, are associated with Pretzel Syndrome (PS), a neurodevelopmental disorder within the Old Order Mennonite Community characterized by megalencephaly, intellectual disability, and intractable epilepsy. To study the cellular mechanisms of STRADA loss, we generated CRISPR-edited Strada mouse N2a cells, a germline mouse Strada knockout (KO−/−) strain, and induced pluripotent stem cell (iPSC)-derived neurons from PS individuals harboring the STRADA founder mutation. …”
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    Multimodal Analysis of STRADA Function in Brain Development
  7. 11427
    “…In addressing our main research question regarding the replenishing inputs, results show the main positive factors are psycho-social resources, intellectual stimulation, and social support/relationships. …”
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    A qualitative analysis of the coping reservoir model of pre-clinical medical student well-being: human connection as making it ‘worth it’
  8. 11428
    “…Participants completed measures of functional impairment (FI), intellectual assessment (RIST) and executive functions (NIH Examiner), while parents reported on children’s functional impairment. …”
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    Self-reported and parent proxy reported functional impairment among pediatric cancer survivors and controls
  9. 11429
    “…FXS is the most common genetic cause of intellectual (ID) and autism spectrum disorders (ASD). …”
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    Elevated de novo protein synthesis in FMRP-deficient human neurons and its correction by metformin treatment
  10. 11430
    “…METHODS: A multiple case study design was chosen to explore the collaboration in three teams, each covering one specific client group receiving long-term care: physically or mentally frail elderly people, people with mental health problems or people with intellectual disabilities. RESULTS: A good working environment and a good collaboration were found to be crucial requirements for participatory research. …”
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    Lessons learned from participatory research to enhance client participation in long-term care research: a multiple case study
  11. 11431
    “…From 2007 to 2015, although delivery rate in women with disabilities decreased steeply compared with that in women without disabilities, the rate of cesarean section increased in women with disabilities. Women with intellectual disability and those with vision impairment had the highest number of perinatal complications among women with various types of disabilities. …”
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    Pregnancy and neonatal outcomes of women with disabilities: a nationwide population-based study in South Korea
  12. 11432
    “…METHODS AND ANALYSIS: Recruitment to this large-scale, multisite, prospective, transdiagnostic, longitudinal clinical cohort study (‘Youth Mental Health Tracker’) will be offered to all young people between the ages of 12 and 30 years presenting to participating services with proficiency in English and no history of intellectual disability. Young people will be tracked over 3 years with standardised assessments at baseline and 3, 6, 12, 24 and 36 months. …”
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    Youth Mental Health Tracker: protocol to establish a longitudinal cohort and research database for young people attending Australian mental health services
  13. 11433
    “…BACKGROUND: NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnormal liver function, and poor growth. …”
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    Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation
  14. 11434
    “…The clinical study included neuropsychological tests of memory, attention, spatial function, and premorbid intellectual capacity. A matched control group was retrieved from reference data. …”
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    Cognition and mental wellbeing after electrical accidents: a survey and a clinical study among Swedish male electricians
  15. 11435
    “…METHODS: In this study, we examined expressive language trajectories, assessed through conversation and narration, in 57 adolescent males with intellectual disability (ID) (20 DS and 37 FXS) in relation to the diagnostic group (DS vs. …”
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    Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors
  16. 11436
    “…In recent years, chromosomal microarrays have been widely adopted by clinical diagnostic laboratories for postnatal constitutional genome analysis and have been recommended as the first-line test for patients with intellectual disability, developmental delay, autism and/or congenital abnormalities. …”
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    Exon-focused targeted oligonucleotide microarray design increases detection of clinically relevant variants across multiple NHS genomic centres
  17. 11437
    “…Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). …”
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    Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
  18. 11438
    “…Fragile X syndrome is the most common inherited intellectual disability and monogenic cause of autism spectrum disorder. …”
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    A neurophysiological model of speech production deficits in fragile X syndrome
  19. 11439
    “…Although the phenotypes of SYS overlap those of Prader-Willi syndrome (PWS), including neonatal hypotonia, feeding problems, and developmental delay/intellectual disability, SYS patients show autism spectrum disorder and joint contractures, which are atypical phenotypes for PWS. …”
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    Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
  20. 11440
    “…BACKGROUND: Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. It underlies isolated reduction of the cerebral cortex that is reminiscent of early hominids which makes it suitable model disease to study the hominin‐specific volumetric expansion of brain. …”
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    An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
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