Long-term Mental Health and Multimorbidity Outcomes in 22q11.2 deletion syndrome - A Comprehensive Study from Childhood to Adulthood

Abstract

22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder with a markedly diverse phenotype. Aims: Examine mental health and multimorbidity in adults with 22q11.2DS followed prospectively from childhood/young adult age focusing on i) neurodevelopmental disorder (NDD) and other psychiatric conditions in adulthood; ii) associations between self-reported eye-contact sensitivity and face processing; iii) stability in cognitive functioning and link to psychosis in adulthood, and iv) long-term physical health outcomes. Methods: The study involved 79 individuals with 22q11.2DS from an original cohort of 100, first examined at ages 1-35 years and followed up after 12-23 years at ages 18-50 years, with psychiatric and neuropsychological assessments, eye-tracking examinations, and blood sampling for amino acid analysis. Results: High rates of NDDs, psychiatric and physical disorders were found, and multimorbidity was very common. Even though rates of psychotic disorders were high, prevalence was lower than in other studies. Individual intellectual decline was observed in some cases despite stable group performance. Regarding psychosis, a possible link to declines in full-scale intelligence quotient (IQ), particularly verbal IQ, was found. Adult functioning correlated positively with baseline IQ but negatively with psychosis. Hyperprolinemia was not associated with any NDD, or psychiatric disorder. Self-reported discomfort with eye contact may indicate social challenges.. Conclusions: Findings underscore the complexity of 22q11.2DS and the necessity for long-term clinical follow-up to prevent severe psychiatric morbidity, including psychosis. Coordinated multidisciplinary care is essential for providing tailored interventions to promote health and development in this population.