ArticleEuropean journal of human genetics : EJHG2015
A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 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
- The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review.Journal of advanced nursing · 2026Article
- Disease modifying therapies for children with spinal muscular atrophy - parents' experiences of hopes, grief and need for rehabilitation for their child.Journal of neuromuscular diseases · 2026Article
- 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
- "…They were just treating her Symptom by Symptom": maternal experiences of having a child with spinal muscular atrophy in Ghana.BMC palliative care · 2025Article
- Caring for children with spinal muscular atrophy in Greece: parents' and caregivers' experience with the healthcare system.Frontiers in health services · 2025Article
- Diagnostic Journey of Korean Patients with Spinal Muscular Atrophy.Yonsei medical journal · 2024Article
- Article
- Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review.Journal of personalized medicine · 2022Article
- Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy.Prenatal diagnosis · 2022Article
- Awareness screening and referral patterns among pediatricians in the United States related to early clinical features of spinal muscular atrophy (SMA).BMC pediatrics · 2021Article
- SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.Frontiers in neurology · 2021Article
- Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study.Orphanet journal of rare diseases · 2020Article
- Article
- A Cost-Effectiveness Analysis of Newborn Screening for Severe Combined Immunodeficiency in the UK.International journal of neonatal screening · 2019Article
- The role of experiential knowledge within attitudes towards genetic carrier screening: A comparison of people with and without experience of spinal muscular atrophy.Health expectations : an international journal of public participation in health care and health policy · 2018Article
- Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population.Molecular genetics & genomic medicine · 2018Article
- New treatments for serious conditions: ethical implications.Gene therapy · 2017Review
- Genetic Testing among Children in a Complex Care Program.Children (Basel, Switzerland) · 2017Article
- Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study.BMC neurology · 2015Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with a carrier frequency of 1 in 41 in Australia. Childhood SMA is classified into three types based on the age at which children present with symptoms and the clinical severity. Families' experiences leading up to the diagnosis have not been described, but are important when considering the potential for a diagnostic odyssey. Using a mixed methods approach, data were collected from interviews and a national survey of families of children with SMA to explore their experiences of this journey. The combined findings (n=28) revealed that the journey to receiving a diagnosis was protracted. The time from first noticing symptoms to finally receiving a diagnosis was emotional and frustrating. Once parents or other family members became aware of symptoms, almost all had consulted with multiple different health professionals before the diagnosis was ultimately made. Not surprisingly, receiving the diagnosis was devastating to the families. The nature of the information and the way it was given to them was not always optimal, particularly because of the difficulties predicting clinical severity. Most felt that their child could have been diagnosed earlier and, although there were mixed views around the benefit of this for their child, they felt it may have reduced the emotional impact on families. Overall, families were more in favour of population carrier screening for SMA when compared with newborn screening of the population. Despite an increasing awareness of SMA, the diagnostic delay continues to have negative impacts on families.
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