Psychiatric illnesses are common in adults with 22q11.2 deletion syndrome (22q11.2DS), and they are highly treatable conditions. The majority of adults have one or more such conditions, most commonly anxiety disorder(s). Like other 22q11.2DS-related conditions, for example, congenital heart disease, the standard means of diagnosis and management for associated psychiatric illnesses apply. The 22q11.2DS-specific caveat is the need for attention to the condition’s multisystem nature. This includes the developmental and medical conditions persisting from childhood, issues newly arising in adulthood, and polypharmacy, as these may affect both psychiatric symptom presentation and interventions. Transition from pediatric to adult practice for individuals with 22q11.2DS is an especially vulnerable time. Considerations include determining capacity for activities of daily living and vocational options, knowledge of sexual health, and reviewing genetic counseling. Capacity to provide consent for treatment and to make lifestyle and financial decisions also comes to the forefront. International guidelines for 22q11.2DS recommend that all patients should have a complete psychiatric assessment and a cognitive and adaptive skills assessment at baseline for an initial diagnosis of 22q11.2DS made in adulthood or at transition from pediatric care, whichever comes first. Many individuals with 22q11.2DS will require treatment by a mental health professional over their lifetime; hence a subsequent psychiatric assessment is often necessary after the baseline consultation. Any changes in baseline functioning affecting performance in key areas, such as cognition, emotions, behavior, and somatic (bodily) issues, provide important clues to the possible development of psychiatric illness. Emotional or temper outbursts may be a feature of untreated or undertreated psychiatric illness. Early diagnosis and provision of effective management with standard treatments, following clinical practice guidelines for the condition involved, are key to reduce symptom burden and to optimize functioning for patients and caregivers. Medical comorbidities such as endocrinological disorders, sleep disturbances, movement and other neurological disorders, and metabolic conditions in 22q11.2DS are important to consider and manage. Consideration of the individual’s context, including intellectual and learning disabilities, living situation, supports, stresses, and other factors, is essential. Involvement of patients and their caregivers, together with a multidisciplinary team, will facilitate a biopsychosocial approach that is key to optimal outcomes.
The Chromosome 22q11.2 Deletion Syndrome A Multidisciplinary Approach to Diagnosis and Treatment 2022, Pages 322-337,