Turner syndrome and neuropsychological abnormalities: a review and case series.
Rev Paul Pediatr
; 43: e2023199, 2024.
Article
en En
| MEDLINE
| ID: mdl-39258641
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Turner
Límite:
Female
/
Humans
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Rev Paul Pediatr
Año:
2024
Tipo del documento:
Article
País de afiliación:
Brasil
Pais de publicación:
Brasil