Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated

Abstract

Background Chromosome 22q11.2 deletion syndrome (22q11DS) is a common genetic disorder with high rates of psychosis and other psychopathologies, but few studies discuss treatment. Our aim was to characterize the prevalence and treatment of major psychiatric illnesses in a well-characterized sample of individuals with 22q11DS. Method This was a cross-sectional study of 112 individuals aged 8 to 45 years with a confirmed diagnosis of 22q11DS. Each participant was administered a modified Schedule for Affective Disorders and Schizophrenia for School-Age Children (K-SADS) and the Structured Interview for Prodromal Syndromes (SIPS). Phenotypes assessed were threshold and subthreshold psychosis, depression, mania, generalized and separation anxiety, obsessions/compulsions, inattention/hyperactivity and substance use. Histories of mental health care and current psychotropic treatment were obtained. Results Psychopathology was common, with 79% of individuals meeting diagnostic criteria for a disorder at the time of assessment. Diagnoses of psychosis were made in 11% of cases, attenuated positive symptom syndrome (APS) in 21%, and 47% experienced significant subthreshold symptoms. Peak occurrence of psychosis risk was during adolescence (62% of those aged 12–17 years). Criteria for a mood disorder were met by 14%, for anxiety disorder 34% and for attention deficit hyperactivity disorder (ADHD) 31%. Mental health care had been received by 63% of individuals in their lifetime, but only 40% continued therapy and 39% used psychotropics. Antipsychotics were used by 42% of participants with psychosis and none of the participants with APS. Half of those at risk for psychosis were receiving no mental health care. Conclusions Psychopathology is common in 22q11DS but is not adequately treated or clinically followed. Particular attention should be paid to subthreshold psychotic symptoms, especially in adolescents.

Ultra High Risk Status and Transition to Psychosis in 22q11.2 Deletion Syndrome

“…Twenty-two of them (24.7%) fully met UHR criteria (i.e., including frequency and onset/ worsening requirements). Both rates are broadly consistent with previous studies in 22q11DS, reporting rates between 45 and 56% for UHR symptoms and between 10 and 21% for UHR criteria 10,11,[16][17][18]33 . Thus, our findings confirm that patients with 22q11DS are at increased risk of experiencing attenuated symptoms of psychosis, regardless of transition to psychosis 23,34 .…”

“…Moreover, 22q11DS was found in 0.3 to 2.0% of patients with schizophrenia [12][13][14] , with rates of up to 5.7% in patients with childhood-onset schizophrenia 15 . Taken together, these findings indicate that 22q11DS is a highly relevant genetic risk factor for schizophrenia and the most promising human model for studying risk factors and states at risk for schizophrenia 5 .Several studies have investigated prodromal symptoms in patients with 22q11DS, reporting rates between 45 and 56% for UHR symptoms and between 10 and 21% for UHR criteria (including frequency and onset/worsening requirements) 8,10,11,[16][17][18] . Armando et al 8 compared the symptom profile of UHR patients with (N530) vs. without (N581) 22q11DS and found no significant group difference in positive symptoms, while negative symptoms were more severe in patients with 22q11DS.…”

“…Several studies have investigated prodromal symptoms in patients with 22q11DS, reporting rates between 45 and 56% for UHR symptoms and between 10 and 21% for UHR criteria (including frequency and onset/worsening requirements) 8,10,11,[16][17][18] . Armando et al 8 compared the symptom profile of UHR patients with (N530) vs. without (N581) 22q11DS and found no significant group difference in positive symptoms, while negative symptoms were more severe in patients with 22q11DS.…”

The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review

“…Stigma was also experienced in relation to psychiatric illness, as 22q11DS patients are at higher risk for developing psychiatric illnesses, such as mood disorders, psychosis, or schizophrenia (Tang et al, 2014). The studies report that stigma experienced in relation to mental health, did not only appear to affect societal perceptions but also the possibility of parents unconsciously treating their child differently.…”

Aetiology Based Diagnosis and Treatment Selection in Intellectually Disabled People with Challenging Behaviours

“…Its behavioural phenotype, including the psychopathological features and endocrine dysfunctions, especially hypoparathyroidism, was originally described by the speech therapist Robert Shprintzen [50]. Over subsequent years it became apparent that 22q11DS is highly associated with symptoms from the schizophrenia, bipolar, anxiety and autistic spectrum [51,52]. With respect to the neuropsychological phenotype, it has been shown that deficits in problem solving and planning as well as in abstract and social thinking are most prominent [53].…”