MECP2 Dysautonomia Phenotypes in Boys.
Pediatr Neurol
; 134: 31-36, 2022 09.
Article
em En
| MEDLINE
| ID: mdl-35809380
ABSTRACT
BACKGROUND:
Recognizing and identifying dysautonomia would facilitate the diagnosis and management of MECP2 mutations in boys. We aimed to explore the prevalence of dysautonomia symptoms in boys with MECP2 mutations.METHOD:
We conducted a national, retrospective study (2000-2020) of medical records from boys who were aged less than 18 years when diagnosed with a pathogenic, or likely pathogenic, variant in the MECP2 gene. We systematically looked for dysautonomic signs in the cardiovascular, respiratory, gastrointestinal, and thermoregulatory systems.RESULTS:
Nine of the 13 cases had at least one system affected by dysautonomia. Two patient subgroups were identified (1) patients who were ambulatory with intellectual or learning disabilities (n = 6/13 cases) and (2) patients who were unable to walk normally with severe encephalopathy (n = 7/13 cases). Dysautonomic signs were found in both subgroups 7 of seven patients in the severe array subgroup and 2 of six in the mild array subgroup.CONCLUSIONS:
These results support MECP2 testing and dysautonomia investigations in both young males who present with encephalopathy and those with intellectual disabilities.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Encefalopatias
/
Disautonomias Primárias
/
Deficiência Intelectual
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article