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Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review

Masson, R; Brusa, C; Scoto, M; Baranello, G; (2021) Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review. Developmental Medicine and Child Neurology 10.1111/dmcn.14798. (In press).

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Abstract

Aim: To summarize the current knowledge on brain involvement in spinal muscular atrophy (SMA) type 1, focusing on brain pathology, cognition, and speech/language development. Method: A scoping review was performed using the methodology of the Joanna Briggs Institute. Five databases and references from relevant articles were searched up to December 2019. Articles were screened on the basis of titles and abstracts. Full‐text papers published in peer‐reviewed journals in English were selected. Results: Nineteen articles met eligibility criteria. Eight case series/reports on brain pathology showed abnormalities in few SMA type 0/1 cases, supported by findings in three post‐mortem examinations in mice. Four studies (three case–control, one cross‐sectional) on cognition reported contradictory results, with impaired cognitive performances in recent, small groups with SMA type 1. Four studies (three cross‐sectional, one observational) on speech/language showed that untreated SMA type 1 patients rarely achieve functional and intelligible speech, with data limited to parent reports/non‐formal evaluations. Interpretation: Brain involvement is an under‐investigated aspect of SMA type 1, requiring further exploration in longitudinal studies. A deeper knowledge of brain involvement would improve the interpretation of clinical phenotypes and the personalization of rehabilitation programmes supporting patients' autonomies and quality of life. Additionally, it may help to define further outcome measures testing the efficacy of current and new developing drugs on this domain.

Type: Article
Title: Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review
DOI: 10.1111/dmcn.14798
Publisher version: https://doi.org/10.1111/dmcn.14798
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: spinal muscular atrophy type 1, brain, cognition, speech, language
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10120985
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