Prospective and detailed behavioral phenotyping in DDX3X syndrome

• Published in: Molecular autism Vol. 12; no. 1; p. 36
• Main Authors: Tang, Lara, Levy, Tess, Guillory, Sylvia, Halpern, Danielle, Zweifach, Jessica, Giserman-Kiss, Ivy, Foss-Feig, Jennifer H, Frank, Yitzchak, Lozano, Reymundo, Belani, Puneet, Layton, Christina, Lerman, Bonnie, Frowner, Emanuel, Breen, Michael S, De Rubeis, Silvia, Kostic, Ana, Kolevzon, Alexander, Buxbaum, Joseph D, Siper, Paige M, Grice, Dorothy E
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 16.05.2021; BioMed Central; BMC
• Subjects: Autism; Autism Spectrum Disorder; Behavior; Caregivers; Cell cycle; Complications and side effects; DDX3X syndrome; DEAD-box RNA Helicases - genetics; Developmental delay; Diagnosis; Female; Genetic disorders; Genomes; Genotype–phenotype correlation; Humans; Intellectual disability; Laboratories; Language; Language Development Disorders; Male; Medical records; Pervasive developmental disorders; Population; Prospective Studies; Psychologists; Questionnaires; Risk factors; Standard deviation; Standard scores; United States; Autism; Intellectual disability; Genotype–phenotype correlation; DDX3X syndrome; Developmental delay

DDX3X syndrome is a recently identified genetic disorder that accounts for 1-3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and language delays, and autism spectrum disorder (ASD). To date, the published phenotypic characte...