Intellectual Disability

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  Subject Areas on Research

  • 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 common mutation site in the beta-galactosidase gene originates in Puerto Rico. 
  • A de novo direct duplication of 16q22.1 --> q23.1 in a boy with midface hypoplasia and mental retardation. 
  • 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 hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features. 
  • 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. 
  • 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? 
  • Assessment of loneliness at school among children with mild mental retardation. 
  • 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. 
  • Autism and mental retardation: neuropathologic studies performed in four retarded persons with autistic behavior. 
  • BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. 
  • Behavior problems in children with the presenting problem of poor school performance. 
  • Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. 
  • Brief clinical report and review: the Marden-Walker syndrome. 
  • Brief report: neuropsychology of autism: a report on the state of the science. 
  • CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 
  • 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. 
  • 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. 
  • 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 Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. 
  • 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. 
  • 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. 
  • Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome. 
  • Developmental trajectories of executive functions in young males with fragile X syndrome. 
  • Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 
  • Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. 
  • 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. 
  • 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. 
  • Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. 
  • 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. 
  • 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. 
  • Metabolic effects associated with atypical antipsychotic treatment in the developmentally disabled. 
  • Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome. 
  • Modeling a genetic risk for schizophrenia in iPSCs and mice reveals neural stem cell deficits associated with adherens junctions and polarity. 
  • 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. 
  • Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. 
  • Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 
  • 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. 
  • Neurological signs in congenital iodine-deficiency disorder (endemic cretinism). 
  • 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 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. 
  • 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. 
  • Professional perceptions of children with developmental difficulties: the influence of race and socioeconomic status. 
  • Pyridoxine-dependent seizures and cognition in adulthood. 
  • Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. 
  • Resting-state activity in development and maintenance of normal brain function. 
  • Ring chromosome 17: phenotype variation by deletion size. 
  • SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. 
  • SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. 
  • Schizencephaly associated with psychosis. 
  • Severe laryngomalacia and bronchomalacia in DiGeorge syndrome and CHARGE association. 
  • Shigellosis in custodial institutions. 
  • 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. 
  • TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. 
  • The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. 
  • The Vineland Adaptive Behavior Scales: supplementary norms for individuals with autism. 
  • The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. 
  • The ethical justification for minor sibling bone marrow donation: a case study. 
  • The gene encoding the p60 subunit of chromatin assembly factor I (CAF1P60) maps to human chromosome 21q22.2, a region associated with some of the major features of Down syndrome. 
  • The implication of AMPA receptor in synaptic plasticity impairment and intellectual disability in fragile X syndrome. 
  • 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. 
  • Use of urine alarms in toilet training children with intellectual and developmental disabilities: A review. 
  • X chromosome inactivation and X-linked mental retardation. 
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  Keywords of People

  • Barfield, Raymond Carlton, Professor of Pediatrics, Duke Science & Society
  • Bradford, William Dalton, Professor of Pathology, Pathology
  • 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