Table 6.

Evaluations to Consider Following Initial Diagnosis in Individuals with Spinal Muscular Atrophy

System/ConcernEvaluationComment
Constitutional Assessment of growth parametersPlotted on a standard growth chart
Gastrointestinal/
Feeding 		Assessment for feeding dysfunction & gastroesophageal reflux disease
  • Incl evaluation of aspiration risk, 1 nutritional status, & time required to complete a feed
  • Consider evaluation for gastric tube placement in those w/dysphagia &/or aspiration risk.
Assessment for constipation
Respiratory Assessment of pulse oximetry & capnographyConsider referral to pulmonologist familiar w/SMA. 2
Consider forced vital capacity (FVC), as appropriate to age.
  • In children age >4-6 yrs, a handheld spirometer is accurate.
  • When FVC is >40%, decompensation during respiratory infection is less likely than when FVC is ˂40%.
Assessment of airway clearance function by pediatric pulmonologist
Consider sleep study (polysomnogram)In all individuals w/type I SMA, in those w/type II who are weak, & if clinical evidence of or concern for nocturnal hypoventilation
Musculoskeletal Orthopedic, physical medicine & rehabilitation, PT, & OT evaluationIncl assessment of:
  • Gross motor & fine motor skills
  • Contractures, hip dislocation, & scoliosis
  • Mobility, activities of daily living, & need for adaptive devices 3
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Miscellaneous/
Other 		Consultation w/clinical geneticist &/or genetic counselorIncl genetic counseling
Family support/resourcesAssess:
  • Use of community or online resources such as Parent to Parent
  • Need for social work involvement for parental support
  • Need for home nursing referral

OT = occupational therapy; PT = physical therapy

1.

Including consideration of a formal videofluoroscopic swallowing study

2.
3.

Assess equipment needed for safety (car seat / car bed) and independence, such as power chair and other equipment in the home to improve the quality of life for the affected individual and the caregiver.

From: Spinal Muscular Atrophy

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