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Smith M, Masur D, Mcginley J, Weiss E, Fachinni R, A-190 Neuropsychological profile of adolescent with 22q11.2 Deletion Syndrome, Archives of Clinical Neuropsychology, Volume 35, Issue 6, September 2020, Page 985, https://doi.org/10.1093/arclin/acaa068.190
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Abstract
22q11.2 deletion syndrome (22q11DS) is a genetic microdeletion disorder linked to various adverse medical and psychiatric outcomes affecting 1 in every 1,000 to 4,000 births. 22q11DS results from a meiotic deletion of DNA at the q11.2 site on chromosome 22, contributing to cognitive impairments resulting from a range of congenital anomalies. While data are inconsistent and the 22q11DS profile is incomplete—research suggests neuropsychological impairments with receptive language and attention. We describe the neuropsychological findings of a young woman with stronger than expected receptive language and atypical attention profile. Thus, we will highlight the cognitive profile of 22q11DS and the critical role of neuropsychological evaluation in clarifying cognitive performances.
This adolescent was diagnosed with 22q11DS at age 10, and various professionals made prior diagnoses of ADHD, ODD, Anxiety, ID, developmental delay, and learning delay without previous formal neuropsychological evaluation.
Evaluation revealed low overall performances (WISCV- FSIQ = 66) with relative strengths on tasks of category fluency and receptive vocabulary, with stronger than expected receptive language. Her attention profile was not consistent with ADHD, although by history, ADHD criteria would have been met previously. Qualitatively, even with a low IQ, she did not present as someone with an ID.
This case of a young woman with 22q11DS with several prior diagnoses demonstrated a slightly atypical cognitive profile supporting the need for formal neuropsychological evaluation. Furthermore, the patterns of her performances add to the literature of 22q11 deletion syndromes and raise important questions regarding differences in cognitive development in individuals with 22q11DS.
