Developmental Disabilities
What's New
Last Posted: Apr 09, 2024
- Improvement of Variant Reclassification in Genetic Neurodevelopmental Conditions
M Kowanda et al, GIM Open, April 9, 2024 - Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
Lea Urpa et al. Eur J Hum Genet 2024 3 - The Multiple Odysseys in Research and Clinical Care for Neurogenetic Conditions.
Anne C Wheeler et al. Am J Intellect Dev Disabil 2024 129(2) 110-115 - Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities.
Zohreh Talebizadeh et al. Int J Neonatal Screen 2024 10(1) - Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort
KR Dias et al, Genetics in Medicine, January 19, 2024 - Improving care for rare genetic neurodevelopmental disorders: a systematic review and critical appraisal of clinical practice guidelines using AGREE II.
Mirthe J Klein Haneveld et al. Genet Med 2024 1 101071 - Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study
RY Eberhardt et al, Genetics in Medicine, October 12, 2023 - Medicaid Enrollment and Service Use Among Adults With Down Syndrome.
Eric Rubenstein et al. JAMA Health Forum 2023 4(8) e232320 - Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
YN Francis et al, Genetics in Medicine Open, August 4, 2023 - Mental health impact of autism on families of children with intellectual and developmental disabilities of genetic origin.
Jeanne Wolstencroft et al. JCPP Adv 2023 3(1) e12128 - Evaluation of Birth Weight and Neurodevelopmental Conditions Among Monozygotic and Dizygotic Twins.
Johan Isaksson et al. JAMA Netw Open 2023 6 (6) e2321165 - PredictMed-epilepsy: A multi-agent based system for epilepsy detection and prediction in neuropediatrics.
Carlo M Bertoncelli et al. Comput Methods Programs Biomed 2023 236107548 - Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).
Melissa T Carter et al. Journal of medical genetics 2023 - Designing an international survey for organisations serving people with Down syndrome.
Kats Daniel J et al. Journal of applied research in intellectual disabilities : JARID 2023 - "I am not a number!" Opinions and preferences of people with intellectual disability about genetic healthcare.
Strnadová Iva et al. European journal of human genetics : EJHG 2023 1 - Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
DI Francis et al, EJHG, November 29, 2022 - The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
B va der Sanden et al, EJHG, September 15, 2022 - Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
A Lindstrand et al, Genetics in Medicine, September 5, 2022 - Genetic Testing on Patients with Developmental Delay: A Preliminary Study from the Perspective of Physicians.
Bang Gwanwook et al. Healthcare (Basel, Switzerland) 2022 10(7) - Genetic correlates of phenotypic heterogeneity in autism.
Warrier Varun et al. Nature genetics 2022 6
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About RCH PHGKB
Reproductive and Child Health PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that address the translation of genomic and other precision health discoveries into improved health care and prevention related to reproductive and child Health...more
Content Summary
Common RCH Related Topics
- Attention Deficit/Hyperactivity Disorder
- Autism
- Birth Defects
- Carrier Testing
- Cerebral Palsy
- Congenital heart defects
- Pregnancy loss
- Developmental Disabilities
- Gestational Diabetes
- Hearing loss
- Neural tube defects
- Infant Mortality
- Infertility
- Learning disability
- Newborn Screening
- Preeclampsia
- Prematurity
- Prenatal Testing
- Stillbirth
- Sudden Infant Death Syndrome
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:May 03, 2024
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