{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T08:48:00Z","timestamp":1792140480527,"version":"4.4.0"},"reference-count":54,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T00:00:00Z","timestamp":1610668800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To summarize the current knowledge on brain involvement in spinal muscular atrophy (SMA) type 1, focusing on brain pathology, cognition, and speech\/language development.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>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\u2010text papers published in peer\u2010reviewed journals in English were selected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>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\u2010mortem examinations in mice. Four studies (three case\u2013control, one cross\u2010sectional) on cognition reported contradictory results, with impaired cognitive performances in recent, small groups with SMA type 1. Four studies (three cross\u2010sectional, 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\u2010formal evaluations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>Brain involvement is an under\u2010investigated 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>What this paper adds<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>Brain involvement is under\u2010investigated in spinal muscular atrophy (SMA) type 1.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Neuropathological data suggest progressive brain involvement in severe forms of SMA.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Impaired cognitive performances are reported in small groups with SMA type 1.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Data on language in those with SMA type 1 are limited to parent reports and non\u2010formal assessments.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/dmcn.14798","type":"journal-article","created":{"date-parts":[[2021,1,16]],"date-time":"2021-01-16T01:47:50Z","timestamp":1610761670000},"page":"527-536","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":59,"title":["Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review"],"prefix":"10.1111","volume":"63","author":[{"given":"Riccardo","family":"Masson","sequence":"first","affiliation":[{"name":"Developmental Neurology Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan 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