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A Systematic Review of Autism Spectrum in Children and Adolescents with 22q11.DS: Prevalence, Clinical Significance and Relationship with Onset of Psychotic Symptoms

Author(s): Maria Pontillo, Silvia Guerrera, Roberto Averna, Francesco Demaria, Prisca Gargiullo, Maria Cristina Tata, Ornella Santonastaso, Stefano Vicari


22q11.2 deletion syndrome (22q11DS) is a genetic syndrome associated with different neurodevelopmental and psychiatric disorders. Several studies reported contrasting data about prevalence of autism spectrum disorder (ASD) in 22q1DS. Aim of our review was to summarize the evidence in literature on the prevalence and clinical significance of autism spectrum disorders (ASD) in children and adolescents with 22q11DS. Subsequently, we also investigate the association between autism spectrum disorders and onset of psychotic symptoms in this clinical population.

Methods and findings

A systematic review of the literature published from 1970 to March 2018 was conducted. Nine studies are included. In particular, four of nine studies included reported elevated (10-40%) rates of autism spectrum disorders, including autism. However, in these studies the use of only parental report, not associated with the clinical direct observation, tends to overestimate the prevalence of ASD in children and adolescents with 22q11DS. Studies included on the relationship between ASD and psychosis in 22q11DS showed that early childhood autistic features (both ASD diagnosis and only presence of autistic symptoms) are not predictive of subsequent onset of psychotic symptoms.


Based on findings of this review, ASD-like behaviors are present in children and adolescents with 22q11DS and they are similar at the symptom level of idiophatic ASD. However, the social impairments in 22q11DS and idiophatic ASD could be expression of different neuropsychiatric picture. This should be considered in the planning of the treatment of the social impairments of 22q11DS.

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