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 - The Healthcare and Societal Costs of Familial Intellectual Disability.
Deborah Schofield et al. Int J Environ Res Public Health 2024 21(3) - Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation.
Allyson Corbo et al. Res Dev Disabil 2024 148104719 - 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 - Impact of Receiving Genetic Diagnoses on Parents' Perceptions of Their Children with Autism and Intellectual Disability.
Robert Klitzman et al. J Autism Dev Disord 2023 - 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 - Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Guillaume Jedraszak et al. Am J Med Genet A 2023
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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:Apr 21, 2024
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