# Turner syndrome and neuropsychological abnormalities: a review and case series

## TL;DR

This study explores how genetic factors in Turner syndrome relate to neurological and psychiatric issues, finding a potential link between genetic makeup and cognitive or behavioral problems.

## Contribution

The study contributes a case series and literature review highlighting a potential X chromosome dose-effect in Turner syndrome.

## Key findings

- Neurological and psychiatric alterations in Turner syndrome patients correlate with genetic factors.
- The study found a higher prevalence of seizure episodes compared to previous research.
- X chromosome dose-effect may influence verbal, social, and cognitive skills in Turner syndrome.

## Abstract

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).

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.

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.

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.