Turner syndrome and neuropsychological abnormalities: a review and case series-Reference-Cited by-同舟云学术

Turner syndrome and neuropsychological abnormalities: a review and case series

Published:2025 Issue: Volume:43 Page:
ISSN:1984-0462
Container-title:Revista Paulista de Pediatria
language:
Short-container-title:Rev. paul. pediatr.

Author:

Guaraná Bruna Baierle¹^ORCID,Nunes Marcela Rodrigues²^ORCID,Muniz Victória Feitosa²^ORCID,Diniz Bruna Lixinski¹^ORCID,Nunes Maurício Rouvel¹^ORCID,Böttcher Ana Kalise¹^ORCID,Rosa Rafael Fabiano Machado²^ORCID,Mergener Rafaella¹^ORCID,Zen Paulo Ricardo Gazzola²^ORCID

Affiliation:

1. Universidade Federal de Ciências da Saúde de Porto Alegre, Brazil

2. Universidade Federal de Ciências da Saúde de Porto Alegre, Brazil; Irmandade da Santa Casa de Misericórdia de Porto Alegre, Brazil

Abstract

ABSTRACT Objective: The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations presented in patients with Turner syndrome (TS). Methods: A retrospective study was conducted on the medical records of 10/140 patients with TS and neurophysiological abnormalities seen at a university hospital in southern Brazil. In addition, a literature review spanning the period from January 1, 2012 to January 1, 2023 was carried out using the PubMed and Virtual Health Library databases. Results: Our study showed a potential correlation between neurological and psychiatric alterations in patients with TS. These findings are in accordance with those described in literature such as a high prevalence of learning or intellectual disabilities. However, our sample found more seizure episodes than those reported in other studies. Conclusions: The correlation established could be due to X chromosome dose–effect, as the review suggests that sex chromosome number and hormonal development can be associated with verbal, social, and cognitive skills or impairments.

Publisher

FapUNIFESP (SciELO)

Link

http://www.scielo.br/scielo.php?script=sci_pdf&pid=S0103-05822025000100407&tlng=en

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