Dados do Trabalho

Título

BRAIN ABNORMALITIES IN EARLY-ONSET SPINAL MUSCULAR ATROPHY WITH NEURODEVELOPMENTAL DISORDERS

Introdução

Introduction: Recent literature has reported the occurrence of neurodevelopmental comorbidities in early-onset spinal muscular atrophy linked to 5q (SMA-5q). Furthermore, previous reports before the advent of disease-modifying therapies (DMT) suggested brain involvement in 5q-SMA.

Objetivo

To describe the occurrence and pattern of brain abnormalities in a cohoort of SMA type 1 patients and neurodevelopmental disorders.

Método

Methods: This cross-sectional study of a case series included five patients with early-onset and pre-symptomatic SMA-5q under treatment with DMT and who presented with neurodevelopmental disorders, including four cases with autism. These patients underwent brain MRI with volumetric analysis utilizing Neuroquant® software and tractography using diffusion tensor imaging (DTI).

Resultados

Results: Patients with type 1 SMA-5q exhibited a consistent pattern of volumetric reduction in the frontal lobes and reduced representation of association fibers corresponding to the superior longitudinal fasciculus. In contrast, pre-symptomatic patients who received treatment did not show any abnormalities on brain imaging. In an older SMA-5q type 1 patient with advanced disease, used as a control, the spectrum of imaging changes was more severe, presenting marked atrophy in both frontal lobes.

Conclusão

Conclusion: Brain involvement in early-onset SMA-5q may occur even in patients treated with new DMT, and its correlation with neurodevelopmental disorders remains an open question.

Referências

1. Masson R, Brusa C, Scoto M, Baranello G. Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review. Dev Med Child Neurol. 2021 May;63(5):527-536. doi: 10.1111/dmcn.14798. Epub 2021 Jan 15. PMID: 33452688.
2. Mendonça RH, Rocha AJ, Lozano-Arango A, Diaz AB, Castiglioni C, Silva AMS, Reed UC, Kulikowski L, Paramonov I, Cuscó I, Tizzano EF, Zanoteli E. Severe brain involvement in 5q spinal muscular atrophy type 0. Ann Neurol. 2019 Sep;86(3):458-462. doi: 10.1002/ana.25549. Epub 2019 Jul 24. PMID: 31301241.
3. Mugisha N, Oliveira-Carneiro A, Behlim T, Oskoui M. Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review. J Neuromuscul Dis. 2023;10(4):493-503. doi: 10.3233/JND-221567. PMID: 37125560; PMCID: PMC10357153.

Palavras Chave

Spinal muscular atrophy; Neurodevelopmental disorder; brain MRI