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CC BY 4.0 · Arq Neuropsiquiatr 2024; 82(07): s00441787797
DOI: 10.1055/s-0044-1787797
Original Article

Neuropsychological profile in tuberous sclerosis complex: a study of clinical and cognitive variables in a cohort from Brazil

Perfil neuropsicológico no complexo da esclerose tuberosa: estudo de variáveis clínicas e cognitivas em uma coorte do Brasil
Laís Faria Masulk Cardozo 
1   Universidade Federal do Paraná, Programa de Pós-Graduação em Saúde da Criança e do Adolescente, Curitiba PR, Brazil.
,
Mariana Richartz Schwind 
2   Universidade Federal do Paraná, Hospital de Clínicas, Centro de Neurologia Pedriátrica, Curitiba PR, Brazil.
,
Ana Paula Almeida de Pereira 
1   Universidade Federal do Paraná, Programa de Pós-Graduação em Saúde da Criança e do Adolescente, Curitiba PR, Brazil.
,
Luiz Gustavo Dufner-Almeida 
3   Universidade de São Paulo, Instituto de Biociências, Departamento de Genética e Biologia Evolutiva, Centro de Pesquisa em Genoma Humano e Células-Tronco, São Paulo SP, Brazil.
,
Luciana Amaral Haddad 
3   Universidade de São Paulo, Instituto de Biociências, Departamento de Genética e Biologia Evolutiva, Centro de Pesquisa em Genoma Humano e Células-Tronco, São Paulo SP, Brazil.
,
Isac Bruck 
2   Universidade Federal do Paraná, Hospital de Clínicas, Centro de Neurologia Pedriátrica, Curitiba PR, Brazil.
,
Sérgio Antonio Antoniuk 
2   Universidade Federal do Paraná, Hospital de Clínicas, Centro de Neurologia Pedriátrica, Curitiba PR, Brazil.
› Author Affiliations Financial Support The authors disclosed receipt of the following financial support for the design and conduction of the present study, as well as collection, management, and analysis of the data: LMFC and LGDA received financial support from Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES; Brasília, DF, Brazil; finance code 001) and the Brazilian Ministry of Education (4154408; 1570747). LGDA and LAH acknowledge financial support from Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP; grant 13/08028-1).
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Abstract

Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a wide clinical, cognitive, and behavioral expressivity.

Objective To assess the neuropsychological profile of individuals clinically diagnosed with TSC and the factors that could significantly impact their cognitive development.

Methods A total of 62 individuals with ages ranging from 3 to 38 years were followed up in a tertiary attention hospital in Southern Brazil, and they were assessed using a standard battery and the Vineland Adaptive Behavior Scales, when intellectual disability was observed.

Results History of epilepsy was found in 56 participants (90.3%), and 31 (50%) presented an intellectual disability. Among the other half of TSC individuals without intellectual disability, 8 (12.9%) presented borderline classification, 20 (32.2%) presented average scores, and 3 (4.8%) were above average. In total, 17 participants (27.4%) fulfilled the diagnostic criteria for autism spectrum disorder. The results of the multiple linear regression analysis suggested that seizures, age at diagnosis, visual perception, and general attention significantly impact cognitive performance indexes.

Conclusion The present study suggests that the occurrence of epileptic seizures and older age at diagnosis contribute to higher impairment in the domains of cognitive development, underlining the importance of early diagnosis and the prevention of epileptic seizures or their rapid control. The development of attentional skills, visual perception, and executive functions must be followed up.

Resumo

Antecedentes O complexo da esclerose tuberosa (CET) é uma doença genética autossômica dominante com ampla expressividade clínica, cognitiva e comportamental.

Objetivo Avaliar o perfil neuropsicológico de indivíduos com diagnóstico clínico de CET e os fatores que poderiam impactar significativamente o seu desenvolvimento cognitivo.

Métodos Ao todo, 62 indivíduos com idades entre 3 e 38 anos foram acompanhados em um hospital terciário do Sul do Brasil e avaliados por meio de uma bateria padrão e das Escalas de Comportamento Adaptativo Vineland, quando observada deficiência intelectual.

Resultados Encontrou-se histórico de epilepsia em 56 participantes (90,3%) e de deficiência intelectual em 31 (50%). Quanto à outra metade dos indivíduos com CET sem deficiência intelectual, 8 (12,9%) apresentaram classificação limítrofe, 20 (32,2%) apresentaram pontuações médias e 3 (4,8%) estavam acima da média. No total, 17 participantes (27,4%) preenchiam os critérios diagnósticos para o transtorno do espectro autista. Os resultados da análise de regressão linear múltipla sugeriram que as crises epilépticas, a idade ao diagnóstico, a percepção visual e a atenção geral impactam significativamente os índices de desempenho cognitivo.

Conclusão Este estudo sugere que a ocorrência de crises epilépticas e a maior idade ao diagnóstico contribuem para um maior comprometimento nos domínios do desenvolvimento cognitivo, e destaca-se a importância do diagnóstico precoce e da prevenção das crises epilépticas ou do seu rápido controle. O desenvolvimento de habilidades de atenção, percepção visual e funções executivas deve ser acompanhado.

Keywords

Tuberous Sclerosis - Neurocutaneous Syndromes - Neuropsychology - Cognition

Palavras-chave

Esclerose Tuberosa - Síndromes Neurocutâneas - Neuropsicologia - Cognição

Authors' Contributions

LFMC, APAP, SAA: conceptualization and design of the work, data acquisition, analysis, and interpretation, and writing and reviewing of the manuscript; MRS, LGDA, LAH, IB: data acquisition, analysis, and interpretation, and writing and reviewing the manuscript; All authors approved the final version of the manuscript and agree to be responsible for all aspects of the work.




Publication History

Received: 26 January 2024

Accepted: 09 April 2024

Article published online:
02 July 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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Bibliographical Record
Laís Faria Masulk Cardozo, Mariana Richartz Schwind, Ana Paula Almeida de Pereira, Luiz Gustavo Dufner-Almeida, Luciana Amaral Haddad, Isac Bruck, Sérgio Antonio Antoniuk. Neuropsychological profile in tuberous sclerosis complex: a study of clinical and cognitive variables in a cohort from Brazil. Arq Neuropsiquiatr 2024; 82: s00441787797.
DOI: 10.1055/s-0044-1787797
 

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