PGR - 2 Demons In The Mirrors: A Childhood Case Report of 22q11.2 Deletion Syndrome First Addressed By Tele-Neuropsychological Evaluation During The COVID-19 Lockdown

Abstract Objective 22q11.2 Deletion Syndrome (22q11DS) results in physical, cognitive, and behavioral issues. Although it is the most common microdeletion syndrome, there remains a high prevalence of delayed diagnosis. Its heterogeneous phenotypic presentation lead to differing considerations for ea...

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Bibliographic Details
Published in:Archives of clinical neuropsychology 2023-10, Vol.38 (7), p.1137-1140
Main Authors: Pizer, Jasmin H, Myers, Melissa A, Hill, Benjamin D
Format: Article
Language:English
Online Access:Get full text
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Summary:Abstract Objective 22q11.2 Deletion Syndrome (22q11DS) results in physical, cognitive, and behavioral issues. Although it is the most common microdeletion syndrome, there remains a high prevalence of delayed diagnosis. Its heterogeneous phenotypic presentation lead to differing considerations for early diagnostic identification. If initial symptomatology includes behavioral and cognitive disturbance, it is likely for such individuals to be referred first for neuropsychological testing before genetic testing. This case will expand upon diagnostic identification of 22q11DS. Method A 12-year-old, 5-years educated, white female was seen for tele-neuropsychological evaluation due to COVID-19 restrictions in December 2020. Patient’s mother reported concern regarding sudden and worsening behavioral changes including hallucinations, unusual affects, odd beliefs, academic decline, illegible handwriting, attention and memory issues, and behavioral problems in school to the point of removal. Results Overall performance on the Meyers Neuropsychological Battery was severely impaired. See uploaded image file for specific test findings. Speech, affect, and behavior were notable during examination. Diagnoses included schizophrenia (provisional) and specific learning disorder with reading impairment (historical). Immediate neurology consultation was recommended. Later EEG, brain MRI, and CSF were unremarkable. Acute metabolic etiology was ruled out. Subsequent genetic testing revealed 22q11DS. Conclusions Diagnostic identification of 22q11DS and resulting access to care management heavily depends on initial symptom presentation. In this specific case, the COVID-19 lockdown created barrier to sufficient services. This case expands upon knowledge of the cognitive profile of 22q11DS and calls upon increased awareness. Targeted improvement of neurocognition potentially protects against cognitive decline related to psychotic symptoms, and thus neuropsychologists play a vital role in referral to such resources.
ISSN:1873-5843
1873-5843
DOI:10.1093/arclin/acad067.003