Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Mais filtros

Base de dados
Ano de publicação
Tipo de documento
Intervalo de ano de publicação
1.
J Neurol Sci ; 461: 123063, 2024 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-38820769

RESUMO

OBJECTIVE: CDKL5 deficiency disorder (CDD), an epileptic encephalopathy for which novel therapeutics are under development, lacks valid and reliable measures of therapeutic efficacy. We aimed to elucidate the neurophysiological and brain structural features of CDD patients and identify objective indicators reflecting the clinical severity. METHODS: Twelve CDD patients and 12 healthy controls (HCs) participated. The clinical severity of CDD was scored using the CDD severity assessment (CDD-SA). The participants underwent visual evoked potential (VEP), auditory brainstem response (ABR), structural MRI, and diffusion tensor imaging (DTI) analyses. Measurements from each modality were compared with normal values of age-matched cohorts (VEP and ABR) or statistically compared between CDD patients and HCs (MRI). RESULTS: VEP showed a significant correlation between P100 latency and CDD-SA in CDD patients. ABR showed abnormalities in six patients (50%), including prolonged V-wave latency (n = 2), prolonged inter-peak latency between waves I and V (n = 3), and mild hearing loss (n = 4). Structural MRI showed a significant reduction in cortical volume in the left pars triangularis and right cerebellum compared with HCs. DTI showed a widespread decrease in fractional anisotropy and an increase in mean and radial diffusivity compared with HCs. CONCLUSION: CDD patients had reduced cortical volume in the left pars triangularis, a brain region crucial for speech, and one-third of patients had mild hearing loss. These changes may be involved in language impairments in CDD patients. Additionally, P100 latency significantly correlated with the clinical severity. These features can be used to assess the clinical severity of CDD.


Assuntos
Encéfalo , Imagem de Tensor de Difusão , Potenciais Evocados Auditivos do Tronco Encefálico , Potenciais Evocados Visuais , Imageamento por Ressonância Magnética , Espasmos Infantis , Humanos , Masculino , Feminino , Potenciais Evocados Visuais/fisiologia , Espasmos Infantis/diagnóstico por imagem , Espasmos Infantis/fisiopatologia , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Criança , Síndromes Epilépticas/diagnóstico por imagem , Síndromes Epilépticas/fisiopatologia , Síndromes Epilépticas/genética , Pré-Escolar , Adolescente , Potenciais Evocados Auditivos/fisiologia , Perda Auditiva Central/fisiopatologia , Perda Auditiva Central/diagnóstico por imagem , Índice de Gravidade de Doença , Adulto , Proteínas Serina-Treonina Quinases/genética , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA