2017
DOI: 10.1136/jnnp-2016-314292
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Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0–4

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Cited by 111 publications
(118 citation statements)
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“…We describe transformations in optimal multidisciplinary care accompanying active therapy and increased complexity of clinical decision making. As may be expected, patients diagnosed with SMA prior to initiation of the EAP were older and had the less severe SMA subtype 1c, in which some may survive into childhood 17. This group had already developed clinically significant bulbar and respiratory dysfunction, prompting initiation of enteral feeds and nocturnal non-invasive ventilation, on average at age 6.4 and 9.2 years, respectively.…”
Section: Discussionmentioning
confidence: 57%
“…We describe transformations in optimal multidisciplinary care accompanying active therapy and increased complexity of clinical decision making. As may be expected, patients diagnosed with SMA prior to initiation of the EAP were older and had the less severe SMA subtype 1c, in which some may survive into childhood 17. This group had already developed clinically significant bulbar and respiratory dysfunction, prompting initiation of enteral feeds and nocturnal non-invasive ventilation, on average at age 6.4 and 9.2 years, respectively.…”
Section: Discussionmentioning
confidence: 57%
“…Patients enrolled in this study are participating in our ongoing prospective population-based prevalence cohort study on SMA in The Netherlands [18,19]. The study was approved by the local Medical Ethics Committee (No.…”
Section: Design and Participantsmentioning
confidence: 99%
“…In case of discrepancies, acquired motor milestones determined final classification. We used previously published additions to also distinguish subtypes (e.g., 2a-b, 3a-b; Table 1) [2,3,18,19,21]. This is of importance, as a relationship between best acquired motor function and lung function has been reported in several NMDs, including SMA [22].…”
Section: Design and Participantsmentioning
confidence: 99%
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“…Indeed, SMN2 copy number has been described by some researchers as being linked to disease severity in the majority of cases (with higher numbers of SMN2 copies being associated with milder pathology), although this approach has been somewhat controversial, and criticized for being overly simplistic without consideration of potential gene modifiers (Oprea et al, 2008). In practice, therefore genoand phenotype data are taken into consideration when a symptomatic child is diagnosed with SMA (Gavrilov, Shi, Das, Gilliam, & Wang, 1998;Wadman et al, 2017;Wirth et al, 2006).…”
Section: Spinal Muscular Atrophy and Newborn Genetic Screeningmentioning
confidence: 99%