2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Early-Onset Psychosis - Exploring the Psychological Phenotype of DLG4-Related Synaptopathy

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This document discusses a case report of a 13-year-old girl with sudden-onset psychosis who was referred to a genetics clinic. The girl had a history of learning disabilities and experienced auditory and visual hallucinations. Various tests, including brain MRI, EEG, CSF studies, and autoimmune encephalopathy panel, were normal. Genetic testing revealed a pathogenic variant in the DLG4 gene, which is associated with autosomal dominant DLG4-related synaptopathy (SHINE syndrome). SHINE syndrome is a rare neurodevelopmental disorder characterized by sleep disturbances, hypotonia, intellectual disabilities, neurologic disorders, and epilepsy. Psychosis is not a typical symptom of this syndrome, but in this case, the patient presented with early-onset psychosis. The patient's symptoms were initially treatment-resistant but improved with the use of clozapine, an atypical antipsychotic.<br /><br />The document emphasizes the importance of recognizing early-onset psychosis as a potential symptom of SHINE syndrome and highlights the need for genetics evaluation in patients experiencing hallucinations or psychotic symptoms. It also suggests that a positive response to clozapine could impact the medical management of individuals with early-onset psychosis secondary to SHINE syndrome.<br /><br />The case report concludes that monitoring for symptoms of psychosis in individuals with SHINE syndrome is crucial and that diagnosing the syndrome may lead to targeted treatments and improved quality of life. The document includes references to relevant studies on schizophrenia susceptibility genes, early-onset psychosis, NMDA receptor dysfunction, and the effectiveness of clozapine in treating neuropsychiatric disorders.<br /><br />The authors express their gratitude to the patient's family for allowing them to share the case and acknowledge the contributions of other healthcare professionals involved in the patient's care.

Asset Subtitle

Presenting Author - Rebecca Wondimu, BS; Co-Author - Theresa A. Grebe;

Meta Tag

Brain/Nervous System

Clinical Cytogenetics

Cognitive Disorders

Dysmorphology

Etiology

Exome sequencing

Identification of Disease Genes

Intellectual disability

Pathology

Phenotype

Co-Author Theresa A. Grebe

Presenting Author Rebecca Wondimu, BS

Keywords

sudden-onset psychosis

genetics clinic

learning disabilities

auditory hallucinations

visual hallucinations

DLG4 gene

autosomal dominant DLG4-related synaptopathy

SHINE syndrome

early-onset psychosis

clozapine