Article
Phenotypic Description of Autism Spectrum Disorder and Psychopathology in Maternal 15q Duplication Syndrome.
Journal of developmental and behavioral pediatrics : JDBP - 1 Jan 2026
Venezia Ilaria, Passarini Sara, Guerrera Silvia, Apicella Massimo, Alesi Viola, D'Elia Gemma, Sallicandro Ester, Bontempo Piera, Bartuli Andrea, Sinibaldi Lorenzo, Vicari Stefano, Valeri Giovanni
Abstract excerpt
OBJECTIVE: Maternal 15q11-q13 duplication syndrome (Dup15q) has been associated with 0.5% of all cases of autism spectrum disorder (ASD). There is no established protocol for the neuropsychiatric evaluation of individuals with this syndrome. This study aims to define a protocol incorporating gold standard assessments. METHODS: Six individuals with Dup15q underwent assessment of cognitive and adaptive functioning...
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