KEYWORDS 2 22q11.2 deletion, social cognition, neurocognition, psychosis, autism spectrum disorder 3 Abstract Background 22q11.2 deletion syndrome (22q11DS) is a common recurrent neurogenetic condition associated with elevated risk for developmental neuropsychiatric disorders and intellectual disability. Children and adults with 22q11DS often exhibit marked social impairment as well as neurocognitive deficits, and have elevated rates of both autism spectrum disorder (ASD) and psychosis. However, the relationship between the basic processes of social cognition and cognitive ability has not been well studied in 22q11DS. Here, we examined differences in social cognition in 22q11DS, relative to multiple groups of idiopathic neuropsychiatric disorders, and typically developing healthy controls (HC). Additionally, we examined differences in intellectual functioning and its relationship to social cognitive abilities.Finally, we examined the relationship between social cognitive abilities and real-world social behavior.
MethodsWe examined social cognition and intellectual functioning in 306 participants (mean age = 16.63+/-4.59; % female = 44.8%): sixty-eight with 22q11DS, 49 youth with first episode psychosis (FEP), 48 at clinical high-risk (CHR) for psychosis, 24 participants with ASD, and 117 HC. Social cognition was assessed using The Awareness of Social Inference Test (TASIT), while reciprocal social behavior was assessed via parent/caregiver ratings on the Social Responsiveness Scale (SRS).Participants were also administered the Wechsler Abbreviated Scale of Intelligence, 2 nd edition (WASI-II) to assess intellectual functioning.
ResultsThe 22q11DS group exhibited significantly lower social cognitive abilities compared to all other groups, even after controlling for intellectual functioning. Significant positive correlations were found between social cognition, as measured by the TASIT, and IQ across groups. In contrast, no significant relationships were found between TASIT and real-world social behavior (SRS) for any group.
ConclusionsOur findings indicate social cognitive deficits are more prominent in 22q11DS than idiopathic neuropsychiatric conditions across the age range, even after adjusting for global intellectual function. the most common recurrent contiguous gene deletion syndrome, estimated to occur in about 1 in 4000 live births (2). It typically results from a de novo deletion, although 10% of cases are familial (3,4). 22q11DS is associated with a range of developmental anomalies (5). The most frequently associated medical comorbidities include congenital heart defects, facial dysmorphology such as palatal defects, immunodeficiency, velopharyngeal insufficiency, and hypocalcemia (2, 6).Individuals with 22q11DS often present with developmental delays, as well as broad cognitive impairment (6). In most individuals with 22q11DS, Full Scale IQ falls within the borderline to low average range (M = 72.41, SD = ± 13.72; 7). A range of associated cognitive deficits have also been noted in individuals with 22q11...