The 22q11 Deletion Syndrome (22q11DS) is among the most frequent gene deletion disorders, occurring once in every 6,000 live births. Descriptive reports have suggested marked social differences in affected children. Empirical studies are needed to verify possible social skills deficits among children with 22q11DS, and also to examine possible associations between their frequently reported executive function deficits and social anomalies.Fifty-two parents of affected children (n = 52) and participating control siblings (n = 26) completed the Social Skills Rating System (SSRS) and Behavior Inventory of Executive Function (BRIEF).When compared with control siblings, children with 22q11DS had significantly lower SSRS ratings for Cooperation, Assertion, Responsibility, and Self-Control. Affected children had significantly higher BRIEF ratings for Initiation, Planning, Working Memory, and Monitoring. In affected children, global Social Skill was negatively correlated with BRIEF Global Composite scores. Initiation and Monitoring significantly predicted Social Skill. Children with 22q11DS have marked differences in social skill development which are associated with executive dysfunction.
Keywords22q11 Deletion Syndrome; executive function; social skill; remediation; children; neuropsychology The 22q11 Deletion Syndrome (22q11DS) is one of the most common known genetic disorders, estimated to occur in one of every 6,000 live births (Botto et al., 2003). The syndrome results in the loss of a 1.5 megabase region on the long arm of chromosome 22 at the 11.2 site. In the vast majority of cases, the deletion is not transmitted by either parent (de novo). Children with 22q11DS have an array of anomalies believed to be associated with the loss of genes in this region, including physical, neurocognitive, behavioral, and social differences. With regard to their physical phenotype, over 180 possible anomalies have been described (Ryan et al., 1997), the most common of which include structural differences of the head, ears, throat, and neck, possibly accompanied by early feeding difficulties (reflux), immunologic problems, heart defects of widely varying severity, and early hypotonia. Prior to the identification of a single underlying deletion, children with this syndrome were identified according to their primary physical problem, including DiGeorge Syndrome (primary immunological deficit), Conotruncal Anomaly Face Syndrome (primary heart defect with facial dysmorphologies), and Velo-Cardio-Facial Syndrome (primary dysmorphologies of the face and head with varying cardiac irregularities). Any given child, however, may have several or none of these physical problems (although most children have been noted to have at least minor structural facial differences). In this way, the physical phenotype associated with 22q11DS is quite broad, and may determine whether and how early a child's deletion is detected.Although their physical phenotype varies greatly, the neurocognitive development of children with 22q11DS is proving to be...