Intellectual Disability Concept

subject area of

• 15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients  Journal Articles
• 4.3‐Mb triplication of 4q32.1–q32.2: Report of a family through two generations  Journal Articles
• l-Glutaric Acidemia: Investigation of a Patient and His Family  Journal Articles
• A UV-specific endonucleolytic activity present in human cell extracts  Journal Articles
• A comparative study of adolescents and adults who wilfully set fires.  Journal Articles
• A consensus statement on how to conduct inclusive health research  Journal Articles
• A framework for an evidence-based gene list relevant to autism spectrum disorder  Journal Articles
• A social worker's observations of runaways at an institution for the mentally retarded.  Journal Articles
• ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies  Journal Articles
• An abbreviated Wechsler Intelligence Scale for Children for use with educable mentally retarded.  Journal Articles
• Association Between Intellectual Disability and Hair Cortisol Concentration in Adolescents in a Brazilian Population-Based Birth Cohort.  Journal Articles
• Attitudes of medical clerks toward persons with intellectual disabilities.  Journal Articles
• BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes  Journal Articles
• Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism  Journal Articles
• Beneficial Effects of Propylthiouracil plusl-Thyroxine Treatment in a Patient with a Mutation inMCT8  Journal Articles
• Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.  Journal Articles
• Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy  Journal Articles
• Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: Report of two sibs with a unique syndrome  Journal Articles
• CHILD-BRIGHT READYorNot Brain-Based Disabilities Trial: protocol of a randomised controlled trial (RCT) investigating the effectiveness of a patient-facing e-health intervention designed to enhance healthcare transition readiness in youth  Journal Articles
• CNKSR2-Related Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep: A Report of Two Additional Cases and Review of the Literature  Journal Articles
• Caring for older people with an intellectual disability: A systematic review  Journal Articles
• Carrier frequency of the RSH/Smith‐Lemli‐Opitz IVS8‐1G>C mutation in African Americans  Journal Articles
• Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.  Journal Articles
• Cerebral Palsy—Long-Term Medical, Functional, Educational, and Psychosocial Outcomes  Journal Articles
• Cerebral palsy and developmental intellectual disability in children younger than 5 years: Findings from the GBD-WHO Rehabilitation Database 2019  Journal Articles
• Children with intellectual disabilities: taking care of our weak  Journal Articles
• Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders  Journal Articles
• Choosing a measure of support need: implications for research and policy  Journal Articles
• Chorioamnionitis and risk of long-term neurodevelopmental disorders in offspring: a population-based cohort study  Journal Articles
• Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.  Journal Articles
• Cobblestone Lissencephaly in Schinzel-Giedion Syndrome  Journal Articles
• Consumer inclusion: Experience of patients with intellectual and developmental disabilities informs primary care.  Journal Articles
• Coping With a Child With Dravet Syndrome: Insights From Families  Journal Articles
• Coping modeling problem solving versus mastery modeling: Effects on adherence, in-session process, and skill acquisition in a residential parent-training program.  Journal Articles
• Critiquing representations of intellectual disability in occupation-based literature  Journal Articles
• Cross-sectional studies of grammatical morphemes in autistic and mentally retarded children  Journal Articles
• DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome  Journal Articles
• De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling  Journal Articles
• De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features  Journal Articles
• De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay  Journal Articles
• De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome  Journal Articles
• Development curves of communication and social interaction in individuals with cerebral palsy  Journal Articles
• Development of non‐verbal intellectual capacity in school‐age children with cerebral palsy  Journal Articles
• Development of social functioning and communication in school-aged (5–9years) children with cerebral palsy  Journal Articles
• Diagnosis and clinical presentation of two individuals with a rareTCF20pathogenic variant  Journal Articles
• Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature.  Journal Articles
• Diagnostic Dilemma in an Adolescent Girl with an Eating Disorder, Intellectual Disability, and Hypomagnesemia  Journal Articles
• Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability  Journal Articles
• Dr. Bishop et al. Reply  Journal Articles
• Drug-resistant focal epilepsy in a girl with SETD5-related intellectual disability  Journal Articles
• Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44  Journal Articles
• Early interventions involving parents to improve neurodevelopmental outcomes of premature infants: a meta-analysis  Journal Articles
• Epilepsy in KBG Syndrome: Report of Additional Cases  Journal Articles
• Examining the development and utilization of infection control policies to safely support adults with intellectual and developmental disabilities in congregate living settings during COVID-19  Journal Articles
• Field trial for autistic disorder in DSM-IV  Journal Articles
• From Eugenic Euthanasia to Habilitation of ``Disabled'' Children: Andreas Rett's Contribution  Journal Articles
• Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment  Journal Articles
• Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants  Journal Articles
• Functioning of children and adolescents with Down syndrome and the association with environmental barriers and facilitators during the COVID-19 pandemic  Journal Articles
• Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association  Journal Articles
• Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome  Journal Articles
• Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring  Journal Articles
• HELP for behaviours that challenge in adults with intellectual and developmental disabilities.  Journal Articles
• Hollywood Takes on Intellectual/Developmental Disability: Cinematic Representations of Occupational Participation  Journal Articles
• Hypothyroidism presenting as growth retardation. A case report.  Journal Articles
• Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome  Journal Articles
• Improving transition to adulthood for adolescents with intellectual and developmental disabilities: Proactive developmental and systems perspective.  Journal Articles
• In vivo desensitization in the management of self-injurious behavior  Journal Articles
• Intellectual and developmental disabilities in Ontario's criminal justice and forensic mental health systems: Using data to tell the story  Journal Articles
• Intellectual functioning in survivors of extremely low birthweight: Cognitive outcomes in childhood and adolescence  Journal Articles
• Intellectual/developmental disabilities among people incarcerated in federal correctional facilities in Ontario, Canada: Examining prevalence, health and correctional characteristics  Journal Articles
• Long-term hearing and neurodevelopmental outcomes following Kawasaki disease: A population-based cohort study  Journal Articles
• Long-term prognosis in children with neonatal seizures  Journal Articles
• Lorazepam treatment of acute and chronic catatonia in two mentally retarded brothers.  Journal Articles
• MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis  Journal Articles
• Manual asymmetries in the performance of sequential movement by adolescents and adults with Down syndrome.  Journal Articles
• Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7  Journal Articles
• Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments  Journal Articles
• Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability  Journal Articles
• Modulating brain function with microbiota  Journal Articles
• Motor coordination and mental health in extremely low birth weight survivors during the first four decades of life  Journal Articles
• Movement preparation in adults with and without Down syndrome.  Journal Articles
• Multiple Courses of Antenatal Corticosteroids for Preterm Birth Study: 2-Year Outcomes  Journal Articles
• Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism  Journal Articles
• Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy  Journal Articles
• Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly  Journal Articles
• Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia  Journal Articles
• Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation  Journal Articles
• Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation  Journal Articles
• Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency  Journal Articles
• NON‐RIGHT HANDEDNESS AMONG ELBW AND TERM CHILDREN AT EIGHT YEARS IN RELATION TO COGNITIVE FUNCTION AND SCHOOL PERFORMANCE  Journal Articles
• New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome  Journal Articles
• Noncanonical protein kinase A activation by oligomerization of regulatory subunits as revealed by inherited Carney complex mutations  Journal Articles
• Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure  Journal Articles
• OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome  Journal Articles
• Our strength for tomorrow: Valuing our children .4. Injuries and disabilities  Journal Articles
• Our strength for tomorrow: valuing our children. Part 4: Injuries and disabilities. Report of the CFPC's Task Force on Child Health.  Journal Articles
• POLR3A variants in hereditary spastic paraplegia and ataxia  Journal Articles
• Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling  Journal Articles
• Paternal exposure to antiepileptic drugs and offspring outcomes: a nationwide population-based cohort study in Sweden  Journal Articles
• Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies  Journal Articles
• Patients with intellectual disabilities would not benefit more from using powered as opposed to manual toothbrushing  Journal Articles
• Performance of psychiatric inpatients and intellectually deficient individuals on a task that assesses the validity of memory complaints  Journal Articles
• Phalangeal hypoplasia, mental retardation, agenesis of the corpus callosum, brainstem abnormalities and ectopic grey matter: unique case or newly recognized syndrome?  Journal Articles
• Phonological investigation of verbal autistic and mentally retarded subjects  Journal Articles
• Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders  Journal Articles
• Position Paper on “Withholding Treatment”  Journal Articles
• Preserved, deteriorated, and premorbidly impaired patterns of intellectual ability in schizophrenia.  Journal Articles
• Primary care of adults with intellectual and developmental disabilities: 2018 Canadian consensus guidelines.  Journal Articles
• Problem behaviours and psychotropic medication use in intellectual disability: a multinational cross‐sectional survey  Journal Articles
• QALY weights for neurosensory impairments in pediatric economic evaluations: case studies and a critique  Journal Articles
• Rapid cycling in severely multidisabled children: A form of bipolar affective disorder?  Journal Articles
• Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity  Journal Articles
• Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38)  Journal Articles
• Relationship between prior legal involvement and current crisis for adults with intellectual disability  Journal Articles
• Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction  Journal Articles
• Response to Mathias and Nettelbeck on the Structure of Competence: Need for Theory-Based Methods to Test Theory-Based Questions  Journal Articles
• SHANK1 Deletions in Males with Autism Spectrum Disorder  Journal Articles
• SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females  Journal Articles
• Sequential aiming movements and the one-target advantage in individuals with Down syndrome  Journal Articles
• Severe intellectual disability and autistic features associated with microduplication 2q23.1  Journal Articles
• Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery  Journal Articles
• Sex differences in pervasive developmental disorders  Journal Articles
• Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation.  Journal Articles
• Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings  Journal Articles
• Speech Production Errors in Adults With and Without Down Syndrome Following Verbal, Written, and Pictorial Cues  Journal Articles
• Surgery for children with disabilities: not without risk  Journal Articles
• Teaching family medicine residents about care of adults with intellectual and developmental disabilities.  Journal Articles
• The Clinical, Forensic and Treatment Outcome Factors of Patients with Autism Spectrum Disorder Treated in a Forensic Intellectual Disability Service  Journal Articles
• The Need for More Community Nursing for Adults with Intellectual Disabilities and Mental Health Problems  Journal Articles
• The Visual Regulation of Goal-Directed Reaching Movements in Adults with Williams Syndrome, Down Syndrome, and Other Developmental Delays  Journal Articles
• The prevalence and health status of people with developmental disabilities in provincial prisons in Ontario, Canada: A retrospective cohort study  Journal Articles
• The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome  Journal Articles
• Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities  Journal Articles
• Use, costs, and predictors of psychiatric healthcare services following an autism spectrum diagnosis: Population-based cohort study  Journal Articles
• Using national surveys for mental health surveillance of individuals with intellectual disabilities in Canada  Journal Articles
• VINELAND ADAPTIVE BEHAVIOR SCALES AS A SUMMARY OF FUNCTIONAL OUTCOME OF EXTREMELY LOW‐BIRTHWEIGHT CHILDREN  Journal Articles
• Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex  Journal Articles
• Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia  Journal Articles
• Visual and kinesthetic memory and integration of mentally retarded and nonretarded adults.  Journal Articles
• Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation  Journal Articles
• Working memory structure and intellectual disability  Journal Articles
• Working memory, intelligence and knowledge base in adult persons with intellectual disability  Journal Articles