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ORIGINAL RESEARCH article
Front. Endocrinol.
Sec. Pediatric Endocrinology
Volume 15 - 2024 |
doi: 10.3389/fendo.2024.1461103
This article is part of the Research Topic Disorders of Sex Development In Children: Advancing Multidisciplinary Approaches For Complex Diagnosis And Management View all articles
Spectrum of Neuropsychological Challenges in Turner Syndrome
Provisionally accepted- 1 School of Medicine and Health Sciences, George Washington University, Washington, D.C., District of Columbia, United States
- 2 Children’s National Hospital, Washington D.C., United States
Turner syndrome (TS) is associated with significant neuropsychological challenges and screening is recommended at key transition stages. Our goal was to describe the institutional experience of formal neuropsychological assessments in TS and assess differences by karyotype. Data were abstracted by retrospective chart review of completed assessments between 01/01/2019 -10/31/2022 referred from the newly established multidisciplinary clinic and descriptive statistical analyses are presented (SAS V9.4). Of 114 patients, 38 (33%) had completed neuropsychological assessment at a median age 11.3 years (IQR 6.5-14.9). Median full-scale IQ (FSIQ) was lower in those with 45,X karyotype compared with other karyotypes (p=0.027), but did not meet statistical significance at the adjusted significance level for multiple comparisons. Lower median non-verbal IQ (PIQ) relative to verbal IQ (VIQ) was observed. Diagnoses of ADHD (26%), anxiety disorder (26%), were common followed by specific learning disorder (mathematics; 18%) and autism spectrum disorder (16%). The prevalence of neuropsychological abnormalities in our diverse clinic underscores the importance of early and routine neuropsychological testing in TS.
Keywords: Turner Syndrome, Neuropsychology, Genetic syndromes, learning disorder, Anxiety
Received: 07 Jul 2024; Accepted: 17 Oct 2024.
Copyright: © 2024 Fezza, Rau, Clary, Nimene Johnson, Fimmel, Barber and Kanakatti Shankar. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Roopa Kanakatti Shankar, Children’s National Hospital, Washington D.C., United States
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