Author:

Keywords:

22q11.2 deletion syndrome, 22q11.2 duplication, communication, copy number variants, language, parental questionnaires, social responsiveness, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, 22q11, 2 deletion syndrome, 2 duplication, CARDIO-FACIAL-SYNDROME, MICRODUPLICATION 22Q11.2, LANGUAGE IMPAIRMENT, SPECTRUM DISORDERS, CHECKLIST, Child, Humans, DiGeorge Syndrome, Siblings, Social Skills, DNA Copy Number Variations, Parents, Communication, 0604 Genetics, 3105 Genetics

Abstract:

22q11.2 deletion (22q11.2DS) and 22q11.2 duplication (22q11.2Dup) confer risk for neurodevelopmental difficulties, but the characterization of speech-language and social skills in 22q11.2Dup is still limited. Therefore, this study aims to delineate social-communicative skills in school-aged children with 22q11.2Dup (n = 19) compared to their non-carrier siblings (n = 11) and age-matched children with 22q11.2DS (n = 19). Parents completed two standardized questionnaires: the Children’s Communication Checklist (CCC-2), screening speech, language, and social skills, and the Social Responsiveness Scales (SRS-2), assessing deficits in social behavior. Parents report that both children with 22q11.2Dup and 22q11.2DS show more social-communicative deficits than the general population; children with 22q11.2Dup seem to take an intermediate position between their siblings and children with 22q11.2DS. Compared to 22q11.2DS, they demonstrate less frequent and less severe problems, and more heterogeneous social-communicative profiles, with fewer restricted interests and repetitive behaviors. In siblings of 22q11Dup, milder social-communicative difficulties and equally heterogeneous profiles are reported, which might indicate that-in addition to the duplication-other factors such as the broader genetic context play a role in social-communicative outcomes.