Intellectual Disability

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  Subject Areas on Research

  • A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. 
  • A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled With Stimulant Therapy. 
  • A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. 
  • A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 
  • A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene. 
  • A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome. 
  • A patient with duplication (7)(p22.1pter) characterized by array-CGH. 
  • A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. 
  • Aberrant behaviors of young boys with fragile X syndrome. 
  • Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study. 
  • Amebiasis in a mental institution: serologic and epidemiologic studies. 
  • An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype. 
  • Angelman syndrome: are the estimates too low? 
  • Are there other disorders or disabilities associated with autism? 
  • Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample. 
  • Assessment of loneliness at school among children with mild mental retardation 
  • Association of guideline publication and delays to treatment in pediatric status epilepticus. 
  • Association of the Robin sequence with the fragile X syndrome. 
  • Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome. 
  • Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. 
  • Atypical behaviors in children with autism and children with a history of language impairment. 
  • Automated Detection of Repetitive Motor Behaviors as an Outcome Measurement in Intellectual and Developmental Disabilities. 
  • Behavior problems in children with the presenting problem of poor school performance. 
  • Behavioural equivalents of anxiety in children with fragile X syndrome: parent and teacher report. 
  • Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. 
  • Brief Report: Classifying Rates of Students with Autism and Intellectual Disability in North Carolina: Roles of Race and Economic Disadvantage 
  • Brief clinical report and review: the Marden-Walker syndrome. 
  • Brief report: neuropsychology of autism: a report on the state of the science. 
  • Case 6. Abnormal facies and mental retardation in a patient with cystic fibrosis of the pancreas. 
  • Cerebral polygyria in the Chiari Type II (Arnold-Chiari) malformation. 
  • Childhood outcomes after hypothermia for neonatal encephalopathy. 
  • Choanal atresia in a patient with the deletion (9p) syndrome. 
  • Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge. 
  • Clinical and immunologic features of selective IgA deficiency. 
  • Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome. 
  • Common-variant associations with fragile X syndrome. 
  • Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project. 
  • Contribution of sickle cell disease to the occurrence of developmental disabilities: a population-based study. 
  • Cornelia de Lange syndrome in diverse populations. 
  • Cyclicity of aggression and self-injurious behavior in individuals with mental retardation. 
  • Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation. 
  • De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 
  • De novo mutations in epileptic encephalopathies. 
  • De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. 
  • Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia. 
  • Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. 
  • Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. 
  • Developmental trajectories of executive functions in young males with fragile X syndrome. 
  • Dimensional diagnosis and the medical student's grasp of psychiatry. 
  • Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 
  • Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. 
  • Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway? 
  • Dynamics of lip dyskinesia associated with neuroleptic withdrawal. 
  • Early recognition of 1-year-old infants with autism spectrum disorder versus mental retardation. 
  • Educational classifications of autism spectrum disorder and intellectual disability among school-aged children in North Carolina: Associations with race, rurality, and resource availability. 
  • Effect of Cord Blood Magnesium Level at Birth on Non-neurologic Neonatal Outcomes. 
  • Effectiveness of a home based early intervention program with infants of adolescent mothers. 
  • Effects of a procedure derived from the overcorrection principle on manipulated and nonmanipulated behaviors. 
  • Effects of a verbal warning and overcorrection on stereotyped and appropriate behaviors. 
  • Effects of cue-controlled relaxation on psychomotor seizures: an experimental analysis. 
  • Efficacy of the ketogenic diet in Lennox-Gastaut syndrome: a retrospective review of one institution's experience and summary of the literature. 
  • Epilepsy in KCNH1-related syndromes. 
  • Epileptic and electroencephalographic manifestations of guanidinoacetate-methyltransferase deficiency. 
  • Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. 
  • Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: report of a case. 
  • Focal cerebral metabolic abnormality in a patient with continuous spike waves during slow-wave sleep. 
  • Fryns syndrome survivors and neurologic outcome. 
  • Gabapentin in the treatment of refractory partial epilepsy in children with intellectual disability. 
  • Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression. 
  • Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans. 
  • HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. 
  • Health Care Transition for Adolescent and Young Adults with Intellectual Disability: Views from the Parents. 
  • Identifying Individuals With Intellectual Disability Within a Population Study. 
  • Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor. 
  • Influence of gestational age on death and neurodevelopmental outcome in premature infants with severe intracranial hemorrhage. 
  • Influenza vaccination in children with neurologic or neurodevelopmental disorders. 
  • LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. 
  • Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. 
  • Lateralized brain dysfunction in autism: evidence from the Halstead-Reitan neuropsychological battery. 
  • Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel. 
  • Medical paternalism or legal imperialism: not the only alternatives for handling Saikewicz-type cases. 
  • Metabolic effects associated with atypical antipsychotic treatment in the developmentally disabled. 
  • Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome. 
  • Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. 
  • Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. 
  • Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation. 
  • Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 
  • Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association. 
  • Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. 
  • Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. 
  • Nursing home reform and the mentally ill. 
  • Occurrence of vascular anomalies in unilateral cerebral hypoplasia. "Cerebral hemiatrophy". 
  • Onset of dyskinesia and changes in postural task performance during the course of neuroleptic withdrawal. 
  • Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. 
  • Partial duplication of 4q12q13 leads to a mild phenotype. 
  • Performance on the dimensional change card sort and backward digit span by young children with autism without intellectual disability. 
  • Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. 
  • Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome. 
  • Physically, mentally disabled teens require special contraceptive care. 
  • Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. 
  • Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment. 
  • Pyridoxine-dependent seizures and cognition in adulthood. 
  • Resting-state activity in development and maintenance of normal brain function. 
  • Ring chromosome 17: phenotype variation by deletion size. 
  • SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. 
  • Severe laryngomalacia and bronchomalacia in DiGeorge syndrome and CHARGE association. 
  • Shigellosis in custodial institutions. 
  • Silent cerebral infarct definitions and full-scale IQ loss in children with sickle cell anemia. 
  • Situation generality of overcorrective functional movement training. 
  • Social impairments in alternating hemiplegia of childhood. 
  • Story recall by mentally retarded children. 
  • Substance abuse among individuals with intellectual disabilities. 
  • Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. 
  • The Vineland Adaptive Behavior Scales: supplementary norms for individuals with autism. 
  • The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. 
  • The demands and limits of care--ethical reflections on the moral dilemma of neonatal intensive care. 
  • The diagnostic utility of WISC-R measures with children referred to a developmental evaluation center. 
  • The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. 
  • The effects of social punishment on noncompliance: a comparison with timeout and positive practice. 
  • The natural history of change in intellectual performance: who changes? How much? Is it meaningful? 
  • The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. 
  • The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome. 
  • Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome? 
  • Townes-Brocks syndrome in two mentally retarded youngsters. 
  • Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development. 
  • Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate. 
  • Treatment outcome of creatine transporter deficiency: international retrospective cohort study. 
  • Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma. 
  • Use of urine alarms in toilet training children with intellectual and developmental disabilities: A review. 
  • Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome. 
  • Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects. 
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  Keywords of People

  • Bradford, William Dalton, Professor of Pathology, Pathology
  • O'Hare, Frances Catherine, Consulting Associate in the Department of Medicine, Medicine, General Internal Medicine
  • Silver, Debra Lynn, Associate Professor of Molecular Genetics and Microbiology, Duke Science & Society
  • Wu, Li-Tzy, Professor in Psychiatry and Behavioral Sciences, Medicine, General Internal Medicine