198 - Neuropsychological Assessment of Patients in a Newly Established Turner Syndrome Multidisciplinary Clinic.

Saturday, April 29, 2023

3:30 PM – 6:00 PM ET

Poster Number: 198
Publication Number: 198.214

Jacqueline I. Fezza, George Washington University School of Medicine and Health Sciences, Manalapan, NJ, United States; Lauren Clary, Children's National Hospital, Washington, DC, United States; Srishti Rau, Children's National Health System, Rockville, MD, United States; Roopa Kanakatti Shankar, Children's National Health System, Washington DC, DC, United States

Presenting Author(s)

Jacqueline I. Fezza, B.A.

Medical Student
George Washington University School of Medicine and Health Sciences
Manalapan, New Jersey, United States

Background: Turner syndrome (TS) is caused by a missing part or whole second sex chromosome in a phenotypic female, often manifesting dysmorphic features, short stature, primary ovarian insufficiency, and cardiac abnormalities. Recent consensus guidelines recommend formal neuropsychological (NP) assessments in TS due to a high prevalence of neurocognitive impairment.

Objective: Our goal was to review the spectrum of NP impairments in patients with TS referred from a newly established specialty clinic.

Design/Methods: A retrospective chart review, (deemed exempt by the Institutional Review Board), was completed to include NP assessments between 01/01/2019 and 11/01/2022. The prevalence of NP impairments and diagnoses were determined based on the neuropsychologist’s interpretation of scores and impression as stated in the NP summary report. Parent-reported T-scores (mean 50, SD 10) on BRIEF (Behavior Rating Inventory of Executive Function) and CBCL (Child Behavior Checklist) instruments were abstracted. A descriptive analysis of the data is presented (Excel v2102).

Results: Only 38/118 unique patients with TS seen in the specialty clinic had completed NP assessment with median age 11.3 years (range 2.3-20.2); 37% had 45,X karyotype and 34% were diagnosed in the pre/neonatal period. Parent-reported BRIEF and CBCL scores are shown in Table 1. A high prevalence of attention problems (24%), difficulties in domains of mathematics (47%), visual-spatial ability (58%), executive functioning (68%) and anxiety disorder (53%) were noted in the summary report.

Conclusion(s):

Our data confirm the high prevalence of neurocognitive impairment among patients with TS, despite relatively normal parent-reported scores on standardized BRIEF and CBCL instruments. Anxiety and problems with visual-spatial and executive functioning seen in more than half of the individuals justify routine screening. Future studies will need to explore barriers to completion of NP tests as well as optimal assessment tools, and strategies to improve NP outcomes in this population.