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Jente Verbesselt; Jeroen Breckpot; Inge Zink; Ann Swillen – Journal of Speech, Language, and Hearing Research, 2024
Purpose: Individuals with proximal 16p11.2 copy number variants (CNVs), either deletions (16p11.2DS) or duplications (16p11.2Dup), are predisposed to neurodevelopmental difficulties and disorders, such as language disorders, intellectual disability, and autism spectrum disorder. The purpose of the current study was to characterize language…
Descriptors: Foreign Countries, Intelligence Tests, Vocabulary, Verbal Ability
Jiménez-Romero, Ma Salud; Fernández-Urquiza, Maite; Benítez-Burraco, Antonio – Journal of Speech, Language, and Hearing Research, 2022
Purpose: Chromosome 16p11.2 deletion syndrome (OMIM #611913) is a rare genetic condition resulting from the partial deletion of approximately 35 genes located at Chromosome 16. Affected people exhibit a variable clinical profile, featuring mild dysmorphisms, motor problems, developmental delay, mild intellectual disability (ID), socialization…
Descriptors: Genetic Disorders, Disabilities, Language Impairments, Communication Disorders