Neuropsychological profile in people with 22q11: a systematic review

Abstract Purpose 22q11.2 deletion syndrome is the second most common genetic disorder worldwide, significantly affecting numerical reasoning, perceptual processing, memory, executive functioning, attention, and language and communication abilities, among others, to varying degrees. This has generated considerable interest among professionals working with this population. The objective of this research is to review studies conducted in recent years on the neuropsychological profile of individuals with 22q11.2 deletion syndrome. Methods A total of 37 articles were analysed, focusing on the neuropsychological profile in 22q11.2 deletion syndrome, following the PRISMA Statement guidelines and COSMIN methodology. Results The results highlight that individuals with 22q11.2 syndrome present significant difficulties, including low or borderline intellectual functioning, marked vulnerabilities in executive functions, verbal memory, attention, and language, while some non-verbal abilities and simple visual memory may be relatively preserved. Conclusions The results confirm a heterogeneous yet consistently impaired pattern across key cognitive domains, with significant implications for adaptation and daily function.