A mixed methods exploration of families’ experiences of the diagnosis of childhood spinal muscular atrophy

Lawton, Sally; Hickerton, Chriselle; Archibald, Alison D; McClaren, Belinda; Metcalfe, Sylvia

doi:10.1038/ejhg.2014.147

Cited by 34 publications

(44 citation statements)

References 32 publications

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“…It has been noted that the delays in diagnosis of SMA resulted from patient visits to multiple health care professionals to rule out the possibility of other illnesses before genetic testing for SMA was performed and a confirmed diagnosis was obtained. 10 This "diagnostic odyssey" from the time first symptoms are noticed to a confirmed genetic diagnosis of SMA puts patients and caregivers through physical and mental stress. 10 Although it is not clear what kind of functional loss occurs during the delay, a later diagnosis may result in a missed opportunity for optimal early intervention for SMA.…”

Section: Discussionmentioning

confidence: 99%

“…10 This "diagnostic odyssey" from the time first symptoms are noticed to a confirmed genetic diagnosis of SMA puts patients and caregivers through physical and mental stress. 10 Although it is not clear what kind of functional loss occurs during the delay, a later diagnosis may result in a missed opportunity for optimal early intervention for SMA. Early diagnosis and care of SMA also can lead to lower patient and caregiver burden; therefore, tools for improving the appropriate and early detection of SMA, such as newborn screening, may be warranted.…”

Section: Discussionmentioning

confidence: 99%

“…1 Although awareness of SMA is increasing, diagnostic delay is common as SMA symptoms can vary widely in onset and severity and can resemble other diseases. 10 This also may be due to the potential lack of expertise in this area for many health care professionals who may often rule out other diagnoses before considering SMA. Data on the frequency and extent of the diagnostic delay in SMA are limited.…”

Section: Introductionmentioning

confidence: 99%

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Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review

Lin

Kalb

Yeh

2015

Pediatric Neurology

105

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review

Lin

Kalb

Yeh

2015

Pediatric Neurology

105

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“…This research is the first to systematically report the views of families living with SMA towards population level genetic screening in the UK. Our sample includes a range of severities and sub‐types of SMA, as well as affected adults, who have previously been omitted from previous studies of attitudes toward screening [Wood et al, ; Lawton et al, ]. This study has demonstrated that the majority of participants (75%) with experience of SMA are in favor of some form of screening program for the condition, irrespective of the form (pre‐conception/prenatal) and irrespective of the potential for mis‐typing, even though this was a major stumbling block to the implementation of a screening program in the UK in the 2013 review [Cartwright, ].…”

Section: Discussionmentioning

confidence: 99%

Population screening for spinal muscular atrophy: A mixed methods study of the views of affected families

Boardman

Young

Griffiths

2016

American J of Med Genetics Pt A

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Autosomal recessive conditions are a significant health burden with few treatments. Population carrier screening has been suggested as a means to tackle them. Little is known about the views of affected families despite the potential for direct impacts on them. Data are presented on attitudes among families affected by Spinal Muscular Atrophy (SMA) toward two population screening programs, pre‐conception, and prenatal. Data were gathered through qualitative interviews (n = 36) and a survey (n = 337). Eighty‐two survey participants had SMA and 255 were family members. The majority were in favor of screening (75%). Reasons for supporting pre‐conception screening support were a belief that it would reduce SMA‐related terminations and raise awareness of SMA in the population. For prenatal screening, reasons for support included a belief in the importance of informed decision‐making and the need to reduce suffering. Key reasons for non‐support of pre‐conception screening included concerns about carrier stigmatization and social engineering. For prenatal screening, concerns focused on the collateral loss of high quality of life lives affected by SMA. This study highlights that those affected by SMA are predominantly in favor of screening, although pre‐conception screening is most favored. While family members and adults with SMA had largely consistent views, perceptions varied according to the severity (type) of SMA, with those affected by SMA type II the least likely to support screening. These findings suggest that screening for SMA is a complex issue for affected families, underscoring the need to consider and include their views when planning and implementing screening programs. © 2016 Wiley Periodicals, Inc.

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“…9,23,24 Indeed, these experiences have been mirrored by parents of children with a range of other genetic conditions including fragile X syndrome (FXS), 25 Klinefelter syndrome 26 and childhood spinal muscular atrophy (SMA). 27 Diagnostic delay in DMD, and other genetic conditions, may occur for several reasons. First, health professionals may not recognize developmental delay given the wide normal range in early childhood.…”

Section: Discussionmentioning

confidence: 99%

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

Wong¹,

McClaren²,

Archibald³

et al. 2015

Eur J Hum Genet

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The delayed diagnosis of Duchenne muscular dystrophy (DMD) may be an ongoing problem internationally. We aimed to ascertain age at diagnosis and explore parents' experiences of the diagnosis of DMD in Australia. Using mixed methods, data were collected from laboratory and clinical record audits of testing for DMD in Victoria and Tasmania, interviews and a national survey of parents regarding their experiences from first noticing symptoms to receiving a diagnosis. The audits revealed that the median age at diagnosis for DMD was 5 years (n = 49 during 2005-2010); this age had not changed substantially over this period. Fourteen parents interviewed reported age at diagnosis ranging from 2 to 8 years with a 6 month to 4 year delay between initial concerns about their child's development and receiving the DMD diagnosis. Sixty-two survey respondents reported the median age at diagnosis was 3 years and 9 months, while the median age when symptoms were noticed was 2 years and 9 months. Parents experienced many emotions in their search for a diagnosis and consulted with a wide range of health professionals. Half the survey respondents felt that their child could have been diagnosed earlier. Despite advances in testing technologies and increasing awareness of DMD, the age at diagnosis has remained constant in Australia. This mixed methods study shows that this diagnostic delay continues to have a negative impact on parents' experiences, places families at risk of having a second affected child and may have a deleterious effect on affected children's treatment.

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A mixed methods exploration of families’ experiences of the diagnosis of childhood spinal muscular atrophy

Cited by 34 publications

References 32 publications

Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review

Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review

Population screening for spinal muscular atrophy: A mixed methods study of the views of affected families

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

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