A – 40 Neuropsychological Profiles in 22q11.2 Deletion Syndrome: A Case Series of Bilingual Hispanic Individuals

Abstract Objective Individuals with 22q11.2 Deletion Syndrome (22q11.2DS) or DiGeorge Syndrome present with heterogeneous cognitive and behavioral profiles. While the syndrome is associated with increased risk for comorbid medical complications, psychiatric conditions, and a broad range of intellectual functioning, little is known about how bilingualism influences the cognitive phenotype. The case series aims to describe the neuropsychological presentation of two bilingual (Spanish/English) Hispanic individuals with genetically confirmed 22q11.2DS. Method The case series includes two right-handed bilingual individuals diagnosed with 22q11.2DS. Patient A was an 18-year-old female in the 12th grade. Patient B was a 35-year-old female with 13 years of education. Each underwent a comprehensive neuropsychological evaluation, conducted primarily in English, with limited testing in Spanish after confirming language dominance. Results Consistent with prior literature, neuropsychological profiles varied across cases. Patient A met criteria for Intellectual Disability Disorder, while Patient B demonstrated cognitive functioning in the low average range. Despite these differences, both individuals demonstrated marked weaknesses in receptive and expressive language, in both Spanish and English. Language performance for Patient A ranged from < 1st to 1st percentile, and for Patient B, from 1st to 13th percentile. Conclusion This case series highlights broad language difficulties in bilingual individuals with 22q11.2DS, suggesting the potential for cross-linguistic language deficits, regardless of dominant language or level of functioning across other cognitive domains. Early identification and targeted language interventions may help improve adaptive and academic outcomes. Further research is needed to clarify how bilingualism interacts with the cognitive phenotype in 22q11.2DS.