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Resilience and quality of life in young adults with a 22q11.2 deletion syndrome: a patient's perspective.

ABSTRACT: In the transition period between adolescence and young adulthood, individuals with 22q11.2DS are at an increased risk of developing severe psychiatric disorders. Various studies have focused on detecting risk factors, but until now protective factors are still understudied in 22q11.2DS. The current case-control study focuses on the role of resilience and quality of life (QoL) in young adults with 22q11.2DS and behavioural problems, in comparison with persons with an intellectual disability (ID) without a known genetic disorder. Self-report (and caregiver report) standardized questionnaires were used. Predictive general linear models were constructed to compare the resilience and quality of life across both groups (22q11.2DS vs ID-group) and to analyse the association between personal characteristics in both groups. Young adults with a 22q11.2DS show less resilience compared with both the general population norms and young adults with ID. Only a subscale of resilience (Acceptance of self and life) contributes to the reported level of QoL. Reported health problems are not related to resilience, but have an important effect on QoL. Our results suggest different factors are underlying resilience and the relation with QoL in 22q11.2DS and ID in general. These factors deserve more research and are important to take into account in clinical practice.

SUBMITTER: Van de Woestyne K

PROVIDER: S-EPMC9979632 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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Resilience and quality of life in young adults with a 22q11.2 deletion syndrome: a patient's perspective.

Van de Woestyne Kris K Vandensande Ans A Vansteelandt Kristof K Maes Bea B Vergaelen Elfi E Swillen Ann A

European child & adolescent psychiatry 20210611 12

In the transition period between adolescence and young adulthood, individuals with 22q11.2DS are at an increased risk of developing severe psychiatric disorders. Various studies have focused on detecting risk factors, but until now protective factors are still understudied in 22q11.2DS. The current case-control study focuses on the role of resilience and quality of life (QoL) in young adults with 22q11.2DS and behavioural problems, in comparison with persons with an intellectual disability (ID) ...[more]

PMID: 34115224

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Project description:22q11.2 deletion syndrome is characterised by a well defined microdeletion that is associated with a high risk of neuropsychiatric disorders, including intellectual disability, schizophrenia, attention-deficit hyperactivity disorder, autism spectrum disorder, anxiety disorders, seizures and epilepsy, and early-onset Parkinson's disease. Preclinical and clinical data reveal substantial variability of the neuropsychiatric phenotype despite the shared underlying deletion in this genetic model. Factors that might explain this variability include genetic background effects, additional rare pathogenic variants, and potential regulatory functions of some genes in the 22q11.2 deletion region. These factors might also be relevant to the pathophysiology of these neuropsychiatric disorders in the general population. We review studies that might provide insight into pathophysiological mechanisms underlying the expression of neuropsychiatric disorders in 22q11.2 deletion syndrome, and potential implications for these common disorders in the general (non-deleted) population. The recurrent hemizygous 22q11.2 deletion, associated with 22q11.2 deletion syndrome, has attracted attention as a genetic model for common neuropsychiatric disorders because of its association with substantially increased risk of such disorders.1 Studying such a model has many advantages. First, 22q11.2 deletion has been genetically well characterised.2 Second, most genes present in the region typically deleted at the 22q11.2 locus are expressed in the brain.3-5 Third, genetic diagnosis might be made early in life, long before recognisable neuropsychiatric disorders have emerged. Thus, this genetic condition offers a unique opportunity for early intervention, and monitoring individuals with 22q11.2 deletion syndrome throughout life could provide important information on factors contributing to disease risk and protection. Despite the commonly deleted region being shared by about 90% of individuals with 22q11.2 deletion syndrome, neuropsychiatric outcomes are highly variable between individuals and across the lifespan. A clear link remains to be established between genotype and phenotype.3,5 In this Review, we summarise preclinical and clinical studies investigating biological mechanisms in 22q11.2 deletion syndrome, with a focus on those that might provide insight into mechanisms underlying neuropsychiatric disorders in 22q11.2 deletion syndrome and in the general population.

Project description:Background22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated to a high risk for psychiatric disorders, including psychosis. Individuals with 22q11DS are thought to experience increased levels of chronic stress, which could lead to alterations in hypothalamic-pituitary-adrenocortical (HPA)-axis functioning. In the current study, we investigated for the first time diurnal salivary cortisol profiles in adolescents and young adults with 22q11DS as well as their link with stress exposure, coping strategies and psychopathology, including psychotic symptoms.MethodsSalivary cortisol was collected from adolescents and young adults with 22q11DS (n = 30, age = 19.7) and matched healthy controls (HC; n = 36, age = 18.5) six times a day for two days. Exposure to stressful life events, including peer victimization, coping strategies and general psychopathology were assessed with questionnaires. Psychotic symptoms and psychiatric comorbidities were evaluated with clinical interviews.ResultsWe observed similar daily levels and diurnal profiles of salivary cortisol in adolescents and young adults with 22q11DS compared to HCs. However, participants with 22q11DS reported less frequent exposure to stress than HCs. In 22q11DS, we observed a significant association between the use of non-adaptive coping strategies and the severity of psychotics symptoms. Cortisol level was not associated to severity of psychotic symptoms, but elevated cortisol awakening response (CAR) was found in participants with 22q11DS with higher levels of general psychopathology.ConclusionsOur results do not support earlier propositions of altered HPA-axis functioning in 22q11DS but highlight the need to further investigate diurnal cortisol as an indicator of HPA-axis functioning and its link with (earlier) stress exposure and psychopathology in this population. Interventions should target the development of adaptive coping skills in preventing psychosis in 22q11DS.

Dataset Information

Resilience and quality of life in young adults with a 22q11.2 deletion syndrome: a patient's perspective.

Publications

Resilience and quality of life in young adults with a 22q11.2 deletion syndrome: a patient's perspective.

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