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Manifestation of Catatonia in an Adolescent With 22q11.2 Syndrome.

ABSTRACT: In this Letter to the Editor, we present a case of 22q11.2 deletion syndrome that was diagnosed in an adolescent girl after the onset of acute catatonic symptoms. We discuss the challenges in diagnosing catatonia in children and patients with comorbid neurodevelopmental disorders (NDDs), especially in the setting of recent traumatic exposure. We then review treatment strategies in this patient population and conclude with our recommendations regarding genetic workup in acute catatonia. The patient and guardians have reviewed this article and provided informed consent for its publication. In addition, the authors used the CARE guidelines and checklist in writing this report (Supplement 1, available online).

SUBMITTER: Termini K

PROVIDER: S-EPMC10753029 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature

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Manifestation of Catatonia in an Adolescent With 22q11.2 Syndrome.

Termini Katherine K Anand Ekta E Hickox Tucker T Richter Lucas D LD Smith Joshua Ryan JR

Journal of the American Academy of Child and Adolescent Psychiatry 20230628 12

In this Letter to the Editor, we present a case of 22q11.2 deletion syndrome that was diagnosed in an adolescent girl after the onset of acute catatonic symptoms. We discuss the challenges in diagnosing catatonia in children and patients with comorbid neurodevelopmental disorders (NDDs), especially in the setting of recent traumatic exposure. We then review treatment strategies in this patient population and conclude with our recommendations regarding genetic workup in acute catatonia. The patie ...[more]

PMID: 37391128

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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.

Dataset Information

Manifestation of Catatonia in an Adolescent With 22q11.2 Syndrome.

Publications

Manifestation of Catatonia in an Adolescent With 22q11.2 Syndrome.

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