Dados do Trabalho

Título

INTELLECTUAL DISABILITY (ID) IN DUCHENNE MUSCULAR DYSTROPHY (DMD) PATIENTS: IS IT POSSIBLE PREDICT THE OCCURRENCE?

Introdução

Introduction: Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder that has a high rate of cognitive and neurobehavioral disorders such as intellectual disability (ID), autism spectrum disorder (ASD) and attention-deficit/hyperactivity (ADHD).

Objetivo

Objectives: To assess incidence of intellectual disability (ID) in boys with DMD and to explore the relationship between cognitive and genetic findings.

Método

This retrospective cohort included 145 boys followed at Outpatient Child Neurology Service for neuromuscular disorders at the Hospital das Clinicas de São Paulo between 2014 and 2024. The diagnosis of intellectual disability (ID) was based on criteria of the diagnosis and statistical manual of mental disorders (DSM V). To quantify the ID, boys were submitted a IQ score through cognitive status assessment Wechsler Intelligence Scale for Children (WISC IV) or Wechsler Abbreviated Scale of Intelligence (WASI). Genetic mutation was identified by MLPA or sequencing of DMD gene.

Resultados

Results: ID was found in 43/145 (30%) of patients. All of them completed psychometric analysis. According to the criteria of international classification of DSMV, a mild deficiency was found in 76% of cases, moderate in 22% and severe in 2%. In 39% of patients (17/43), ID occurred in association with mutations predicted to affect Dp140 expression and in 8/43 (18%) have mutations predicted to affect all dystrophin products, including Dp71. The other 18 patients have mutations affecting other domains.

Conclusão

Conclusion: Our results suggest that ID is very frequent in DMD. The risk of ID appears to be higher in patients carrying mutations predicted to affect dystrophin isoforms Dp140 and Dp71. By studying mutation location and isoform analysis, we could provide parents with information about the child's possible intellectual abilities.

Referências

Mukherjee S, Roy M, Guha G, Saha SP. Mutation Location and Cognitive Impairment in Duchenne Muscular Dystrophy. J Neurosci Rural Pract. 2018;9(3):410–413.
Bresolin N, Castelli E, Comi GP, et al. Cognitive impairment in Duchenne muscular dystrophy. Neuromuscul Disord 1994; 4:359 –369.

Palavras Chave

duchenne; intellectual disability; mutation