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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. [ABSTRACT FROM AUTHOR]

Objective: 22q11.2 Deletion Syndrome, (DiGeorge Syndrome), is a genetic disorder which commonly causes heart defects, a submucosal cleft palate, and other health conditions, in addition to developmental delays. Individuals with DiGeorge Syndrome are more likely to have Attention-Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD), with research also supporting a high risk for developing schizophrenia in adulthood. Method: In this case study, a 22-year-old woman presented with DiGeorge Syndrome and trunkus arteriosus at the Department of Human Services (DHS) for employment services. Additionally, the patient's parents reported concerns about behavioral outbursts and emotional regulation difficulties for the last three years. The patient completed a full neuropsychological, cognitive, and emotional assessment battery to help understand any neurocognitive and psychological limitations in obtaining and maintaining employment. Results: On neurocognitive testing, she performed in the Severely Impaired range on measures of attention, processing speed, working memory, verbal memory, visual memory, visuospatial ability, motor functioning, and nonverbal problem solving. While performing in the Moderately Impaired range for tactile memory, verbal fluency, and cognitive flexibility. However, the patient exhibited a personal strength on the Verbal Comprehension Index of the Wechsler Adult Intelligence Scale—Fourth Edition (WAIS-IV). On emotional functioning testing, she did not display early signs of schizophrenia nor psychosis. However, the patient did express emotional and behavioral signs of ADHD and ASD. Conclusion: This case study emphasizes the need for neuropsychological testing and ongoing psychological monitoring for individuals with DiGeorge Syndrome, as it relates to treatment recommendations and planning. [ABSTRACT FROM AUTHOR]