Neurocognitive and Socio‐Emotional Profile of Children with 22q11.2 Deletion Syndrome: Executive Functions, Social Processing Deficits and Clinical Implications

ABSTRACT

The current comprehensive literature review delves into the executive functioning and the significant social and emotional challenges of a specific group: children diagnosed with 22q11.2 Deletion Syndrome (22q11DS). In 22q11DS, deficits in executive functions are, at least in part, a result of the deletion on chromosome 22. Nonetheless, the manifestation of the EF phenotype in 22q11DS is diverse and may be affected by specific risk factors that are more prevalent in this group. Consequently, 22q11DS provides an opportunity to examine how these factors influence executive function within the framework of a singular genetic basis. This review also indicates that children with 22q11DS exhibit impairments in inhibition and shifting, whereas updating may remain intact during childhood. It is also important to highlight that deficits in executive functions are observed in this group even when accounting for cognitive abilities, reinforcing the idea that executive function and intelligence are distinct constructs. Recent findings indicate that risk factors commonly recognized in the general population, like congenital heart defects or low socioeconomic status, might not influence executive functioning in the same manner in 22q11DS. While illustrating how research on the 22q11DS population can enhance our comprehension of executive function development, we underscore the relevant practical implications, pinpoint the existing gaps in the literature and emphasize the potential avenues for future inquiry.