Social functioning profiles in adolescents and young adults with 22q11.2 deletion syndrome: similarities and differences with typically developing individuals

Background: 22q11.2 deletion syndrome (22q11DS) is a genetic condition associated with a wide range of physical, cognitive, and psychiatric impairments. This condition is often associated with difficulties in social functioning (SF), frequently exacerbated by psychiatric comorbidities, such as anxiety and psychotic symptoms, which are particularly common in this population. This study adopted a multi-method approach to embrace the complexity of the SF assessment and identify distinct SF profiles in youths with 22q11DS. Association with mental health were examined, with the aim of guiding more targeted and individualized interventions.Methods: Fifty-five adolescents and young adults with 22q11DS and 65 age-matched typically developing (TD) controls were recruited. SF was assessed using a combination of measures in both groups, and a latent profile analysis was conducted on the full sample to identify distinct SF profiles. Mental health was assessed in both groups using standardized questionnaires; in addition, individuals with 22q11DS completed clinical interviews to assess psychiatric comorbidities.Results: Three distinct SF profiles emerged from a Latent Profile Analysis: An Above profile composed exclusively of TD individuals; an Average profile including both TD and 22q11DS participants; and a Below profile consisting mainly of individuals with 22q11DS. These profiles differed on key SF variables. Within the 22q11DS group, individuals in the Below profile exhibited more pronounced negative and disorganized psychotic symptoms and a greater number of psychiatric comorbidities than those in the Average profile, whose SF was more similar to that of TD individuals.Conclusions: This study improves our understanding of SF in individuals with 22q11DS by highlighting both inter-group differences and intra-group variability. The identification of three distinct SF profiles (above, average, below) reveals a gradient of SF and underscores that SF difficulties are not solely linked to cognitive impairments but also to psychopathology. The findings emphasize the importance of using a combination of complementary measures to capture the complex nature of SF and to guide more nuanced, individualized interventions.

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Publication Details

Published
2025-09-04
DOI
https://doi.org/10.31234/osf.io/mvt65_v1
Primary Topic
Congenital heart defects research
Type
article
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article

Social functioning profiles in adolescents and young adults with 22q11.2 deletion syndrome: similarities and differences with typically developing individuals

Clémence Feller, Maude Schneider, Stéphan Eliez, Julie Husmann et al.
Congenital heart defects research
article

Social functioning profiles in adolescents and young adults with 22q11.2 deletion syndrome: similarities and differences with typically developing individuals

Clémence Feller, Maude Schneider, Stéphan Eliez, Julie Husmann, Laura Ilen
article en

Abstract

Background: 22q11.2 deletion syndrome (22q11DS) is a genetic condition associated with a wide range of physical, cognitive, and psychiatric impairments. This condition is often associated with difficulties in social functioning (SF), frequently exacerbated by psychiatric comorbidities, such as anxiety and psychotic symptoms, which are particularly common in this population. This study adopted a multi-method approach to embrace the complexity of the SF assessment and identify distinct SF profiles in youths with 22q11DS. Association with mental health were examined, with the aim of guiding more targeted and individualized interventions.Methods: Fifty-five adolescents and young adults with 22q11DS and 65 age-matched typically developing (TD) controls were recruited. SF was assessed using a combination of measures in both groups, and a latent profile analysis was conducted on the full sample to identify distinct SF profiles. Mental health was assessed in both groups using standardized questionnaires; in addition, individuals with 22q11DS completed clinical interviews to assess psychiatric comorbidities.Results: Three distinct SF profiles emerged from a Latent Profile Analysis: An Above profile composed exclusively of TD individuals; an Average profile including both TD and 22q11DS participants; and a Below profile consisting mainly of individuals with 22q11DS. These profiles differed on key SF variables. Within the 22q11DS group, individuals in the Below profile exhibited more pronounced negative and disorganized psychotic symptoms and a greater number of psychiatric comorbidities than those in the Average profile, whose SF was more similar to that of TD individuals.Conclusions: This study improves our understanding of SF in individuals with 22q11DS by highlighting both inter-group differences and intra-group variability. The identification of three distinct SF profiles (above, average, below) reveals a gradient of SF and underscores that SF difficulties are not solely linked to cognitive impairments but also to psychopathology. The findings emphasize the importance of using a combination of complementary measures to capture the complex nature of SF and to guide more nuanced, individualized interventions.

Openalex Percentile: Top 79%
Congenital heart defects research
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