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

Abstract excerpt

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...

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• Autistic Disorder
• Brain
• Child, Preschool
• Infant
• Longitudinal Studies