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Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.

ABSTRACT: Individuals with 22q11.2 deletion syndrome (22q11.2DS) are at elevated risk of developing treatable psychiatric and neurological disorders, including anxiety disorders, schizophrenia, seizures, and movement disorders, often beginning in adolescence or early to mid-adulthood. Here, we provide an overview of neuropsychiatric features associated with 22q11.2DS in adulthood. Results of a new case series of 13 individuals with 22q11.2DS and catatonic features together with 5 previously reported cases support a potential association of this serious psychomotor phenotype with the 22q11.2 deletion. As in the general population, catatonic features in 22q11.2DS occurred in individuals with schizophrenia, other psychotic and non-psychotic psychiatric disorders, and neurological disorders like Parkinson's disease. We place the results in the context of an updated review of catatonia in other genetic conditions. The complex neuropsychiatric expression and risk profile of 22q11.2DS highlights the need to consider co-morbid factors and provide care tailored to the individual patient. The results reinforce the need for periodic monitoring for the emergence of psychiatric and neurological manifestations including catatonic features. Pending further research, enhanced recognition and informed anticipatory care promise to facilitate the early diagnosis that allows for timely implementation and optimization of effective treatments.

SUBMITTER: Butcher NJ

PROVIDER: S-EPMC6209527 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature

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Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.

Butcher Nancy J NJ Boot Erik E Lang Anthony E AE Andrade Danielle D Vorstman Jacob J McDonald-McGinn Donna D Bassett Anne S AS

American journal of medical genetics. Part A 20180519 10

Individuals with 22q11.2 deletion syndrome (22q11.2DS) are at elevated risk of developing treatable psychiatric and neurological disorders, including anxiety disorders, schizophrenia, seizures, and movement disorders, often beginning in adolescence or early to mid-adulthood. Here, we provide an overview of neuropsychiatric features associated with 22q11.2DS in adulthood. Results of a new case series of 13 individuals with 22q11.2DS and catatonic features together with 5 previously reported cases ...[more]

PMID: 29777584

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Project description:Background22q11.2 deletion syndrome (22q11DS) is a common recurrent neurogenetic condition associated with elevated risk for developmental neuropsychiatric disorders and intellectual disability. Children and adults with 22q11DS often exhibit marked social impairment as well as neurocognitive deficits, and have elevated rates of both autism spectrum disorder (ASD) and psychosis. However, the relationship between the basic processes of social cognition and cognitive ability has not been well studied in 22q11DS. Here, we examined differences in social cognition in 22q11DS, relative to multiple groups of idiopathic neuropsychiatric disorders, and typically developing healthy controls (HC). Additionally, we examined differences in intellectual functioning and its relationship to social cognitive abilities. Finally, we examined the relationship between social cognitive abilities and real-world social behavior.MethodsWe examined social cognition and intellectual functioning in 273 participants (mean age = 17.74 ± 5.18% female = 44.3%): 50 with 22q11DS, 49 youth with first episode psychosis (FEP), 48 at clinical high-risk (CHR) for psychosis, 24 participants with ASD, and 102 HC. Social cognition was assessed using The Awareness of Social Inference Test (TASIT), while reciprocal social behavior was assessed via parent/caregiver ratings on the Social Responsiveness Scale (SRS). Participants were also administered the Wechsler Abbreviated Scale of Intelligence, 2nd edition (WASI-II) to assess intellectual functioning.ResultsThe 22q11DS group exhibited significantly lower social cognitive abilities compared to CHR, FEP, and HC groups after controlling for intellectual functioning, but not in comparison to the ASD group. Significant positive correlations were found between social cognition, as measured by the TASIT and IQ across groups. In contrast, no significant relationships were found between TASIT and real-world social behavior (SRS) for any group.ConclusionsOur findings indicate social cognitive deficits are more prominent in 22q11DS than idiopathic neuropsychiatric conditions across the age range, even after adjusting for global intellectual function. These results contribute to our understanding of the intellectual and social vulnerabilities of 22q11DS in comparison to idiopathic neuropsychiatric disorders. Our findings of robust associations between intellectual ability and social cognition emphasizes the importance of accounting for neurocognitive deficits in social skills interventions and tailoring these existing treatment models for 22q11DS and other populations with intellectual impairment.

Project description:Objective22q11.2 deletion syndrome (22q11DS) is among the strongest known genetic risk factors for schizophrenia. Previous studies have reported variable alterations in subcortical brain structures in 22q11DS. To better characterize subcortical alterations in 22q11DS, including modulating effects of clinical and genetic heterogeneity, the authors studied a large multicenter neuroimaging cohort from the ENIGMA 22q11.2 Deletion Syndrome Working Group.MethodsSubcortical structures were measured using harmonized protocols for gross volume and subcortical shape morphometry in 533 individuals with 22q11DS and 330 matched healthy control subjects (age range, 6-56 years; 49% female).ResultsCompared with the control group, the 22q11DS group showed lower intracranial volume (ICV) and thalamus, putamen, hippocampus, and amygdala volumes and greater lateral ventricle, caudate, and accumbens volumes (Cohen's d values, -0.90 to 0.93). Shape analysis revealed complex differences in the 22q11DS group across all structures. The larger A-D deletion was associated with more extensive shape alterations compared with the smaller A-B deletion. Participants with 22q11DS with psychosis showed lower ICV and hippocampus, amygdala, and thalamus volumes (Cohen's d values, -0.91 to 0.53) compared with participants with 22q11DS without psychosis. Shape analysis revealed lower thickness and surface area across subregions of these structures. Compared with subcortical findings from other neuropsychiatric disorders studied by the ENIGMA consortium, significant convergence was observed between participants with 22q11DS with psychosis and participants with schizophrenia, bipolar disorder, major depressive disorder, and obsessive-compulsive disorder.ConclusionsIn the largest neuroimaging study of 22q11DS to date, the authors found widespread alterations to subcortical brain structures, which were affected by deletion size and psychotic illness. Findings indicate significant overlap between 22q11DS-associated psychosis, idiopathic schizophrenia, and other severe neuropsychiatric illnesses.

Project description:Introduction: Autistic catatonia is an under-recognized debilitating syndrome with long-lasting negative effects for families, healthcare workers, and high-cost to the healthcare system. In this report, we describe two cases of excited catatonia in young men diagnosed with autism. Both endured a delay to diagnosis and difficulty to obtain appropriate treatment. Main concern: Each patient had a change in behavior from their baseline but with differences in severity and onset. The diagnosis in the first patient was made after only 3 months as the change was dramatic and sudden. Yet, despite a confirmed diagnosis, it was difficult to treat as the importance of M-ECT was not recognized by the clinicians. The second patient had been suffering for more than 5 years with a slow progression of worsening aggressive symptoms. The aggression was so uncontrollable that the patient required sedation, intubation and daily ECT. Both suffered from agitation, unprovoked aggression, urinary incontinence, stereotypic, and OCD behaviors and compulsive masturbation. Primary Diagnosis, intervention/outcomes: Both patients were diagnosed with autism, one high-functioning, attending high school and working a part-time job, the second low-functioning, nearly non-verbal, isolated to home and ABA school. The first patient's diagnosis of catatonia was only suspected after five psychiatric admissions and more than 20 medication trials. Lorazepam challenge was effective, he was treated with a short series of ECT but each time the treatments were tapered, the aggression returned. Ultimately, stabilized on weekly ECT. The second patient's behavior was escalating over a 5 month period, to the point, the aggression was uncontrollable. He presented to the ED under involuntary hold and the behavior could not be stabilized to the point that emergent ECT was initiated. Conclusion: Two cases of autistic catatonia diagnosed and treated within a year time span at a small community hospital indicates that this diagnosis is more common than previously recognized. We propose screening all patients with neurodevelopmental disorders with the Bush-Francis and Kanner scales to diagnose and treat them appropriately.

Dataset Information

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.

Publications

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.

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