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Título

Autism and cognitive impairment in dystrophic and structural myopathies: are we missing out?

Resumo

Introduction:Myopathies represent a wide spectrum of heterogeneous diseases characterized mainly by the abnormal structure and functioning of skeletal muscle.Due to the pathogenesis of myopathies being diverse and several systems being affected, neurodevelopmental disorders may also occur. However, amongst the genetic myopathies, intellectual disability (ID) and autism spectrum disorder (ASD) has been mostly described in Duchenne Muscular Dystrophy, Alpha-dystroglicanopathies and Myotonic Dystrophy, but not in other structural and dystrophic myopathies.
Objective:Describe three patients with dystrophic and structural myopathies with ID and ASD.
Methods:Description of three patients with ACTA1-myopathy and LAMA2-congenital muscular dystrophy with ID and ASD and literature review.
Results:Patient 1 was a 7 years old male with hypotonia, proximal muscle weakness, myopathic face and muscle biopsy with nemaline rods, who presented with hemizygous pathogenic variant in ACTA1 (p.Gly57Arg). He was non-verbal, had stereotyped movements, poorly functioning play, poor social interaction and didn’t comprehend simple commands. Patient 2 was an 8 years old boy with congenital hypotonia, with maximum motor ability to sit without support, that presented with myopathic face and multiples joint contractures. He had two pathogenic variants in LAMA2 (p.Tyr121* and Leu1581Profs*5), and spoke only few words, poorly functioning play, poor social interaction and only comprehended simple commands. Patient 3 was an eight years old girl, who presented with congenital hypotonia, muscle proximal weakness, but was able to walk unassisted, she also presented scoliosis. She had two pathogenic variants in LAMA2 (P.Cys1079Arg and exons 2-9 deletion). She spoke just simple phrases, had poorly functioning play, poor social interaction, wasn’t able to read or write and had stereotyped movements. Both patients with LAMA2-CMD had white matter hypersignal in T2 and FLAIR at Brain MRI, but none of them presented cortical malformation or epilepsy. All three patients scored for ASD in the Child Autism Rating Scale (CARS) and presented signs of ID.
Conclusion:Given the gap in the literature regarding cognitive defects within the context of myopathies, we have presented patients with genetical myopathies associated ASD and ID and provided insight for clinicians handling these patients. As it may appear in a greater proportion of patients, early screening and multidisciplinary programs is necessary

Palavras Chave

Autism, cognitive impairment, myopathy