SMA is a devastating condition for patients and their families.1,2 HCPs are essential in raising awareness of clinical features, thereby helping affected families plan ahead and, ultimately, spend valuable time with their children. Here, four families share their experiences.
The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.
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WHAT ARE THE SIGNS AND SYMPTOMS OF SMA IN CHILDREN?
Early diagnosis and proactive care are essential for children with SMA.1 However, these can be delayed if families are unaware of the diagnostic red flags.
Clinical features in children are highly suggestive for SMA particularly in a ‘floppy baby’ or weak child.2 The predominant clinical features are muscle weakness and atrophy attributed to motor neuron dysfunction and loss.3 The weakness is usually symmetrical, more proximal than distal, and greater in the legs than in the arms.2,3
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LISTEN TO LAMONT’S FAMILY PERSPECTIVE
“Time to diagnosis is very important because it helps the families to get the types of supports they need.”
– Lilah’s mum
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LISTEN TO MORGAN’S PARENTS PERSPECTIVE
“No one knew to think about these [signs] as being red flags.”
– Morgan’s mum
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Other clinical features in more severe forms include impaired head control, weak cry and cough, swallowing and feeding difficulty, atrophy and fasciculation of the tongue and abdominal breathing.2
The most notable differential diagnoses for an infant presenting with hypotonia and weakness are congenital myopathies, and genetic syndromes such as Prader-Willi syndrome, acute hypoxic ischaemic encephalopathy, neonatal sepsis and dyskinetic or metabolic conditions.2
Familiarity with clinical features can prevent delays in diagnosis and facilitate early intervention. You can save valuable time if you recognise and advise families on the signs and symptoms of SMA.
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SMA is a highly variable condition with heterogeneous clinical features.4 Find out more about the signs and symptoms of SMA in children.
HOW ARE THE CAREGIVERS AFFECTED BY A DELAY IN DIAGNOSIS?
Although awareness of SMA is increasing, diagnostic delay is common; SMA symptoms can vary widely in onset and severity, can resemble other diseases1 and a wide spectrum of ‘normal’ paediatric development exists.2
However, due to the efficiency of genetic testing and the high frequency of SMA in the hypotonic or “floppy” infant, genetic testing should be considered early in any infant with weakness or hypotonia.2
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LISTEN TO BENJAMIN’S MUM PERSPECTIVE
“Our family doctor suggested […] ‘perhaps he’s a lazy baby’ - there were a lot of barriers in the language used.”
– Benjamin’s mum
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LISTEN TO DOMINIC’S PARENTS PERSPECTIVE
“Your best chance of preventing disease progression is to have the condition diagnosed as soon as possible.”
– Dominic’s dad
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From a patient’s families' perspective, the journey from initially noticing changes to diagnosis is protracted, emotional and frustrating.4
Parents or other family members often consult with multiple different specialists before receiving the diagnosis and report stress, anxiety, frustration and self-doubt from trying to convince health professionals of a problem in their child.4
While early diagnosis and treatment are important to prevent irreversible neuron loss4 most families want an early diagnosis regardless of medical benefit, but to prevent worry and confusion among family members.4
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Diagnostic delay is common in spinal muscular atrophy.5 Find out more about the diagnosis of SMA in children.
The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.
References
1. Arnold WD, et al. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51(2):157-67.
2. D'Amico A, et al. Spinal muscular atrophy. Orphanet J Rare Dis. 2011;6:71.
3. Klug C, et al. Disease burden of spinal muscular atrophy in Germany. Orphanet J Rare Dis. 2016;11(1):58.
4. Lawton S, et al. A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy. Eur J Hum Genet. 2015;23(5):575-80.
5. Lin, Kalb and Yeh. Delay in diagnosis of spinal muscular atrophy: A systematic literature review. Pediatr Neurol. 2015; 53(4):293-300. Available at: https://pubmed.ncbi.nlm.nih.gov/26260993/.
