Spinal Muscular Atrophy Care Guidelines

November 2007

The Family Guide to the Consensus Statement for Standard of Care in Spinal Muscular Atrophy was prepared by SMA Advocates for families affected by SMA. The full, 22-page text of the Consensus Statement was published in the August 2007 issue of the Journal of Child Neurology. Both are available as PDFs by following the links above.


The Spinal Muscular Atrophy Standard of Care Committee released a “consensus statement” on clinical care in spinal muscular atrophy (SMA), published in the August 2007 issue of the Journal of Child Neurology, that sets guidelines aimed at standardizing the management of this disease.

The patient advocacy group of the International Coordinating Committee (ICC) for Spinal Muscular Atrophy Clinical Trials identified the establishment of standards in SMA care as a priority following a 2004 conference sponsored by the National Institutes of Health (NIH), where discussions revealed wide variations in medical management of the disease.

With support from MDA through the ICC's patient advocacy group, made up of representative of MDA, Families of SMA and Fight SMA, a new SMA Standard of Care Committee formed in January 2005. The committee’s goals were to examine current clinical practices in SMA and to attempt to achieve consensus on a standard of care.

What the committee did

The SMA Standard of Care Committee focused on five key areas of disease management including diagnosis, pulmonary care, gastrointestinal and nutritional issues, orthopedics and rehabilitation, and end-of-life decisions. Experts for each area divided SMA patients into "nonsitters," "sitters," and "walkers" and addressed the care needs of the three groups separately and in detail.

Working groups for each of the key disease areas identified the current care issues relevant to their particular focus. They examined existing practices in SMA clinical care and worked out a consensus with regard to the most appropriate clinical care for people with SMA. Additionally, groups formed medical practice guidelines for future clinical trials, identified SMA research goals, and together published the consensus for physicians to use as guidelines (not a practice standard) for medical care of those with SMA.

The consensus statement lists the following guidelines and recommendations for use in the care of people with SMA.

Diagnosis

  • Care for people with SMA should be tailored to their current functional status (nonsitters, sitters or walkers) rather than the original classification of disease types.
  • Because of the complexity of medical problems associated with the diagnosis of SMA, medical providers should designate someone, usually a pediatric neurologist or a geneticist, to meet with the family.
  • The primary care physician should be well-informed about the multidisciplinary needs of people with SMA and should play a central role in coordinating follow-up care.
  • At the first meeting with parents, physicians should explain the disease process, pathogenesis (cause and evolution of the disease), phenotype (symptom-based) classification, and the child’s prognosis, and should formulate a plan of multidisciplinary intervention with the family.
  • Families should be provided with online resources, information on spinal muscular atrophy patient advocacy groups and information on clinical trial websites.
  • Topics related to the genetics of SMA should be addressed. These include the inheritance and genomic structure of SMN, the protein missing but needed in SMA; sibling recurrence risk; carrier testing; and information that might help with reproductive planning.

Pulmonary care

Key respiratory problems include impaired cough, hypoventilation (insufficient respiratory effort) during sleep, chest wall and lung underdevelopment, and recurrent infections.

  • Referral for respiratory care evaluation and discussion of options should occur shortly after diagnosis. Key components of the respiratory assessment include evaluation of cough effectiveness, observation of breathing and monitoring gas exchange.
  • Chronic respiratory management should include providing methods for airway clearance, including mechanical insufflation-exsufflation or manual cough assist, and noninvasive ventilatory support. Routine immunizations are also recommended.
  • Discussion with families about the options for respiratory care and identifying the goals for chronic and acute respiratory care should occur early in the disease course and on a regular basis thereafter.
  • Acute respiratory illness management requires increased airway clearance and secretion management techniques using, when necessary, mechanical insufflation-exsufflation or manual cough assist and increased respiratory support (including noninvasive ventilation); nutrition and hydration management; and a low threshold for starting antibiotics.
  • When surgery is undertaken, care should include a thorough preoperative evaluation of respiratory status, ideally by a pulmonologist, and anticipatory guidance of the surgical team and postoperative management team regarding optimal care.

Gastrointestinal and nutritional issues

Key clinical problems include feeding and swallowing problems, gastrointestinal dysfunction, growth and undernutrition/overnutrition problems, and respiratory problems such as aspiration and gastroesophageal reflux.

  • A multidisciplinary or interdisciplinary team of physicians, speech therapists or occupational therapists, dieticians, and pediatric surgeons should be gathered to help manage nutritional problems that might otherwise negatively influence pulmonary status and general well-being.
  • Treatment of feeding and swallowing difficulties should aim at reducing the risk of aspiration (inhaling food or liquid into the lungs) during swallowing, optimizing efficiency of feeding and promoting enjoyable mealtimes.
  • Acid neutralizers may be used to manage gastroesophageal reflux.
  • Routine history, physical examination and monitoring of growth charts should be conducted to detect signs and symptoms of growth failure or excess.
  • Nutrient intake should meet the daily recommended intakes for age, and supplements to provide more than the dietary recommended intake for vitamin, mineral, protein or fat should be discouraged.

Orthopedics and rehabilitation

Key problems associated with orthopedics and rehabilitation include contracture formation, spinal deformity and limited mobility as a result of muscle weakness and limited motor function. Pain, osteopenia (bone loss) and fractures are additional problems that should be considered.

  • Infants and children should be evaluated for musculoskeletal and functional deficits, with therapy goals dependent on functional level and family wishes.
  • Daily living activities, including mobility and play, should be encouraged.
  • Walking should be encouraged, with appropriate assistive devices and orthotics.
  • Spinal orthoses (back braces) may provide postural support but do not prevent curve progression and may impair respiratory effort.
  • Scoliosis (spinal curvature) surgery appears to benefit patients who survive beyond age 2 when curves are severe and progressive; surgery should be performed when pulmonary function is adequate.
  • Special preoperative respiratory care and neurological monitoring during surgery are desirable.

End-of-life decisions

  • It should be recognized that local experience, training, habit and resource availability have a substantial effect on recommendations and family decisions about interventional support.
  • Care options should be presented in an open, fair and balanced manner.
  • Choices for or against interventional supportive care involve multiple options and should not be so rigid as to be unchanging with circumstance.
  • Appropriate response to potential life-threatening respiratory insufficiency should be discussed before an emergency arises.
  • Whenever possible, caregivers should permit sufficient time after diagnosis before discussing the relevant issues; in all cases, sufficient time, honest appraisal of the choices, openness to revisiting decisions made and personal rapport are essential to these discussions.
  • End-of-life decisions should be defined and neither delayed nor aggressively presented to parents.
  • Hospice referral or other provision for the specific issues regarding terminal care, grief and bereavement support is important.

What the consensus statement means

"This provides general guidelines [for physicians] to care for these patients," says Ching Wang, chair of the International Standard of Care Committee for SMA, and "will allow SMA patients to receive more consistent and optimal care."

The standards also are expected to have a positive effect on future clinical trials.

"The guidelines will facilitate SMA clinical trial research by providing patients who are receiving uniform clinical care during the clinical trial studies," notes Wang. "This allows valid measures of clinical outcomes that are not caused by clinical trial treatments."

©2007, Muscular Dystrophy Association Inc.