ArticlePloS one2020
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 79 citations in OpenAlex.
- Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs.Orphanet journal of rare diseases · 2022Pooled it
- Mapping the patient journey of adult patients with Spinal Muscular Atrophy in Greece: key challenges and priorities for action.Orphanet journal of rare diseases · 2026Article
- New Perspectives of Underlying Cardiomyopathy in Pediatric SMA Patients-An Age Matched Control Study.Life (Basel, Switzerland) · 2025Article
- Caring for children with spinal muscular atrophy in Greece: parents' and caregivers' experience with the healthcare system.Frontiers in health services · 2025Article
- A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care.Arquivos de neuro-psiquiatria · 2024Article
- Experiences and the psychosocial situation of parental caregivers of children with spinal muscular atrophy against the background of new treatment options: a qualitative interview study.BMC psychology · 2024Article
- Diagnostic Journey of Korean Patients with Spinal Muscular Atrophy.Yonsei medical journal · 2024Article
- Health information literacy among children with spinal muscular atrophy and their caregivers.Italian journal of pediatrics · 2024Article
- Our Journey from Individual Efforts to Nationwide Support: Implementing Newborn Screening for Spinal Muscular Atrophy in Serbia.International journal of neonatal screening · 2024Article
- Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey.Neurology and therapy · 2024Article
- Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic.Frontiers in neuroscience · 2024Article
- Judicialization of Zolgensma in the Ministry of Health: costs and clinical profile of patients.Revista de saude publica · 2024Article
- Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy.Frontiers in neurology · 2024Review
- Phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health records.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England.Neurology and therapy · 2023Article
- Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth.Molecular genetics and metabolism reports · 2023Article
- Article
- Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy.International journal of environmental research and public health · 2023Article
- Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA.Journal of neuromuscular diseases · 2023Observational
- The quality of life in children with spinal muscular atrophy: a case-control study.BMC pediatrics · 2022Article
Corrections and comments
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Authors and funding
18 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe advent of new therapies has increased the need to achieve early diagnosis in Spinal Muscular Atrophy (SMA). The aim of the present study was to define the age of diagnosis in the three main types of SMA with pediatric-onset and the timing between the recognition of clinical signs and confirmed genetic diagnosis.
methodsAll patients with a confirmed diagnosis of type I, II, III SMA followed in 5 Italian centers were included in this study, assessing age at symptoms onset, presenting sign or symptom, age at diagnosis, interval between clinical onset and diagnosis and type of medical investigations conducted in order to obtain the diagnosis.
resultsThe cohort included 480 patients, 191 affected by SMA type I, 210 by type II and 79 by type III. The mean age at diagnosis was 4.70 months (SD ±2.82) in type I, 15.6 months (SD±5.88) in type II, and 4.34 years (SD±4.01) in type III. The mean time between symptom onset and diagnosis was 1.94 months (SD±1.84) in type I, 5.28 months (SD±4.68) in type II and 16.8 months (SD±18.72) in type III.
conclusionsOur results suggest that despite improved care recommendations there is still a marked diagnostic delay, especially in type III. At the time new therapies are becoming available more attention should be devoted to reducing such delay as there is consistent evidence of the benefit of early treatment.
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