Phenotypic Characterization of Five Children With PACS1-NDD: Longitudinal Insights Into Development, Behavior, and Brain

PACS1 neurodevelopmental disorder (PACS1-NDD), also known as Schuurs-Hoeijmakers syndrome, is a rare genetic condition caused by a recurrent de novo mutation in the PACS1 gene. Autistic traits have been reported in PACS1-NDD, but systematic longitudinal assessments are lacking. We followed five children (3 females) with genetically confirmed PACS1-NDD, aged 1.4-6.2 years at entry, over 2-3.5 years (29 assessments). Measures included standardized behavioral and cognitive assessments,…

via https://pubmed.ncbi.nlm.nih.gov/42392841/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1lqZ3NPYysePVKsoyz66mDSgu4veDGJwnUBS47TBQPoOuNZY5J&fc=None&ff=20260709011005&v=2.20.0


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