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About 27,972 results

ALLMedicine™ Intellectual Disability Center

Research & Reviews  13,853 results

Establishing intellectual disability as the key feature of patients with biallelic RNPC...
https://doi.org/10.1002/ajmg.a.62152
American Journal of Medical Genetics. Part A; Yamada M, Ono M et. al.

Mar 2nd, 2021 - Some mammalian genes contain both major and minor introns, the splicing of which require distinctive major and minor spliceosomes, respectively; these genes are referred to as minor intron containing-genes. RNPC3 (RNA-binding domain-containing pro...

Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report.
https://doi.org/10.1080/13816810.2021.1894459
Ophthalmic Genetics; Younes ST, Shiflett JM et. al.

Mar 1st, 2021 - Background: Norrie disease is a genetic disorder of the retina characterized by impaired retinal vascular development leading to retinal detachment and blindness. Non-retinal manifestations of the disorder include intellectual disability and seizu...

Genetic and phenotypic analysis of 101 patients with developmental delay or intellectua...
https://doi.org/10.1111/cge.13951
Clinical Genetics; Hiraide T, Yamoto K et. al.

Mar 1st, 2021 - Whole-exome sequencing (WES) enables identification of pathogenic variants, including copy number variants (CNVs). In this study, we performed WES in 101 Japanese patients with unexplained developmental delay (DD) or intellectual disability (ID) (...

Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural...
https://doi.org/10.1002/ajmg.a.62140
American Journal of Medical Genetics. Part A; Honjo RS, Castro MAA et. al.

Mar 1st, 2021 - Cerebellofaciodental syndrome is characterized by facial dysmorphisms, intellectual disability, cerebellar hypoplasia, and dental anomalies. It is an autosomal-recessive condition described in 2015 caused by pathogenic variants in BRF1. Here, we r...

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Guidelines  5 results

Guidelines for dementia-related health advocacy for adults with intellectual disability...
https://doi.org/10.1352/1934-9556-53.1.2
Intellectual and Developmental Disabilities; Bishop KM, Hogan M et. al.

Jan 30th, 2015 - Increasing numbers of adults with intellectual disabilities (ID) are living into old age. Though this indicates the positive effects of improved health care and quality of life, the end result is that more adults with ID are and will be experienci...

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, inclu...
https://doi.org/10.1038/gim.2013.129
Genetics in Medicine : Official Journal of the American C... South ST, Lee C et. al.

Sep 27th, 2013 - Microarray methodologies, including array comparative genomic hybridization and single-nucleotide polymorphism-detecting arrays, are accepted as an appropriate first-tier test for the evaluation of imbalances associated with intellectual disabilit...

American College of Medical Genetics recommendations for the design and performance exp...
https://doi.org/10.1097/GIM.0b013e31822272ac
Genetics in Medicine : Official Journal of the American C... Kearney HM, South ST et. al.

Jun 17th, 2011 - Genomic copy number microarrays have significantly increased the diagnostic yield over a karyotype for clinically significant imbalances in individuals with developmental delay, intellectual disability, multiple congenital anomalies, and autism, a...

American College of Medical Genetics standards and guidelines for interpretation and re...
https://doi.org/10.1097/GIM.0b013e3182217a3a
Genetics in Medicine : Official Journal of the American C... Kearney HM, Thorland EC et. al.

Jun 17th, 2011 - Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. Application of th...

Array-based technology and recommendations for utilization in medical genetics practice...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3111046
Genetics in Medicine : Official Journal of the American C... Manning M, Hudgins L et. al.

Oct 21st, 2010 - Laboratory evaluation of patients with developmental delay/intellectual disability, congenital anomalies, and dysmorphic features has changed significantly in the last several years with the introduction of microarray technologies. Using these tec...

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Clinicaltrials.gov  13,969 results

Establishing intellectual disability as the key feature of patients with biallelic RNPC...
https://doi.org/10.1002/ajmg.a.62152
American Journal of Medical Genetics. Part A; Yamada M, Ono M et. al.

Mar 2nd, 2021 - Some mammalian genes contain both major and minor introns, the splicing of which require distinctive major and minor spliceosomes, respectively; these genes are referred to as minor intron containing-genes. RNPC3 (RNA-binding domain-containing pro...

Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report.
https://doi.org/10.1080/13816810.2021.1894459
Ophthalmic Genetics; Younes ST, Shiflett JM et. al.

Mar 1st, 2021 - Background: Norrie disease is a genetic disorder of the retina characterized by impaired retinal vascular development leading to retinal detachment and blindness. Non-retinal manifestations of the disorder include intellectual disability and seizu...

Genetic and phenotypic analysis of 101 patients with developmental delay or intellectua...
https://doi.org/10.1111/cge.13951
Clinical Genetics; Hiraide T, Yamoto K et. al.

Mar 1st, 2021 - Whole-exome sequencing (WES) enables identification of pathogenic variants, including copy number variants (CNVs). In this study, we performed WES in 101 Japanese patients with unexplained developmental delay (DD) or intellectual disability (ID) (...

Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural...
https://doi.org/10.1002/ajmg.a.62140
American Journal of Medical Genetics. Part A; Honjo RS, Castro MAA et. al.

Mar 1st, 2021 - Cerebellofaciodental syndrome is characterized by facial dysmorphisms, intellectual disability, cerebellar hypoplasia, and dental anomalies. It is an autosomal-recessive condition described in 2015 caused by pathogenic variants in BRF1. Here, we r...

see more →

News  141 results

Study Highlights Role of Structural Racism in Delayed Autism Diagnoses
https://www.medscape.com/viewarticle/936729

Sep 1st, 2020 - An analysis of a large cohort of African American children with autism spectrum disorder (ASD) reveals a more than 3-year time lag between parental recognition of a development delay and an ASD diagnosis, reported John N. Constantino, MD, of the d...

Study Highlights Role of Structural Racism in Delayed Autism Diagnoses
https://www.staging.medscape.com/viewarticle/936729

Sep 1st, 2020 - An analysis of a large cohort of African American children with autism spectrum disorder (ASD) reveals a more than 3-year time lag between parental recognition of a development delay and an ASD diagnosis, reported John N. Constantino, MD, of the d...

FDA Okays New Treatment for Dravet Syndrome
https://www.medscape.com/viewarticle/933039

Jun 25th, 2020 - The US Food and Drug Administration (FDA) has approved fenfluramine (Fintepla, Zogenix) oral solution, a Schedule IV controlled substance, for the treatment of seizures associated with Dravet syndrome in children age 2 years and older. Dravet synd...

Anemia in Early Pregnancy Linked to Autism, ADHD, Intellectual Disability in Kids
https://www.medscape.com/viewarticle/918906

Sep 23rd, 2019 - Iron deficiency anemia early in pregnancy appears to increase the risk of neurodevelopmental disorders, including autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and intellectual disability (ID) in offspring. Resul...

Could Mom's Anemia Hurt Baby's Brain?
https://www.medpagetoday.com/obgyn/pregnancy/82236

Sep 18th, 2019 - Anemia in early, but not late, pregnancy was negatively associated with infant neurodevelopment, according to a Swedish registry study. Among more than 500,000 children, those whose mothers had anemia within the first 30 weeks of pregnancy had inc...

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Patient Education  4 results see all →