Consensus Statement
Consensus Stagement for Standard of Care in Spinal Muscular Atrophy
Family Guide to the Standard of Care Consensus
Online Summary
Here, the key points of the Consensus Statement have been summarized and the language made less technical for the Stanford SMA Website.
Introduction
I. Clinical Diagnosis and Management of Newly Diagnosed Patients
II. Pulmonary Care
III. Gastrointestinal (GI) and Nutritional Care
IV. Orthopedics Care and Rehabilitation
V. Palliative Care
Back to SMA at Stanford
We know that the standard of care for Spinal Muscular Atrophy patients is a big issue because so many doctors and caregivers know little about the disease prior to encountering their first patient with SMA. We hope that with the publication of this document, there will finally be a common reference point for everyone caring for people with SMA.
Below is a summary of the most relevant points in the document and a lot of the medical jargon has been simplified. Because there is such a wide variation in the functional levels associated with SMA, sections are also divided up with different recommendations for non-sitters, sitters, and walkers. You can also refer directly to the Standard of Care Consensus (for more detiled information), the Family Guide (for an even more simplified version), and you can always feel free to Contact Us for more information as well.
I. Clincal Diagnosis and Management of Newly Diagnosed Patients
1. Diagnosis:
- Key features of SMA are low muscle tone, weakness, and decreased tendon reflexes with intact mental function.
- Diagnosis is confirmed by a genetic test showing the missing of at least a fragment (exon 7) of the SMN1 gene.
- Genetic blood test from should be done before other tests when SMA is suspected.
2. Classification of SMA is according to the highest function ever achieved:
- Type I patient never sit independently (Nonsitters)
- Type II patients can sit but never walk independently (Sitters)
- Type III patients can walk independently (Walkers)
- Type IV patients are mild with symptoms starts in adulthood.
3. Management of Newly Diagnosed SMA Patients:
- Arrange a meeting with the patient’s family
- Discuss the cause of SMA: degeneration of motor neurons in spinal cord
- Discuss the genetic basis of SMA: autosomal recessive inheritance
- Discuss patient’s clinical type and anticipated progression
- Provide online resources and support groups
- Provide information on clinical trial research.
- Refer to the following specialists whenever necessary: Pediatric Neuromuscular Clinic, Pulmonary, GI/Nutrition, Oorthopedic/Rehabilitation, Genetics counseling
II. Pulmonary Care
1. Respiratory Problems in SMA:
- Impaired cough
- Hypoventilation (weak breathing)
- Lung underdevelopment
- Recurrent infections
2. Evaluation:
- For everyone: check cough effectiveness,
- Walkers: Pulmonary function testing
- Sitters: Scoliosis evaluation, swallow study, polysomnography, and pulse oximetry
- Nonsitters: Polysomnography, pulse oximetry, and chest x-rays
3. Chronic Management:
- Knowledge of baseline status, understanding hypoventilation, and preparation for acute illness management
- Airway clearance: mechanical in-/exsufflator (MI-E)
- Secretion management
- Respiratory support, including Non-Invasive Ventilation (NIV): Continuous Positive Airway Pressure (CPAP) and Bi-level Positive Airway Pressure (BiPAP)
- Oximetry may be used for guidance, but oxygen supplementation should be used cautiously. A saturation drop is often caused by something other than hypoventilation (e.g., a mucous plug) that requires correction by other means.
- Nutrition, hydration, antibiotics, and regular immunizations will also help prevent respiratory complications.
4. Acute Care: should be done through noninvasive means whenever possible.
- Airway clearance:
- Manual cough assist and suctioning, with oximetry for guidance
- Chest physiotherapy
- Postural Drainage
- Respiratory Support:
- NIV, with the option of adding daytime hours
- Oxygen therapy, after setting pressures and clearing airway
- Temporary intubation and mechanical ventilation maybe needed until re-normalized
- For walkers, NIV may be needed and possibly oxygen therapy
- Tracheotomy may be considered for nonsitters in special cases
- Palliative care may be an option for some families
5. Perioperative Care: Optimize respiratory status prior to surgery
- Pre-Operation: Respiratory function can be evaluated as at any pulmonary check-up. Additionally, a chest x-ray and evaluation for sleep disordered breathing should be considered.
- Post-Operation:
- Close monitoring and aggressive respiratory management is required.
- Respiratory support should be used immediately after an operation if required pre-operatively during sleep
- Extubation should be a carefully planned bridge back to baseline respiratory support
- Personal devices (NIV, MI-E)
- Oxygen (with caution)
- Adequate pain control
III. Gastrointestinal (GI) and Nutritional Care
1. Problems:
- Feeding difficulty resulting in aspiration
- Constipation and gastro-esophageal reflux
- Growth and Nutrition (under or over weight)
2. Evaluation:
- Feeding and swallowing issues:
- Nutritional intake assessment; developing a feeding case history
- Physical examination of oral structures
- Videofluoroscopic swallow studies (VFSS)
- Protein status may be evaluated with pre-albumin levels
- Gastrointestinal Dysfunction:
- Search for early symptoms of regurgitation after eating
- Upper gastrointestinal study for gastric tube (g-tube) placement
- Motility study
3. Management:
- Feeding and swallowing:
- Changing food consistency- thicker liquids are more difficult to aspirate
- Positioning and seating alterations
- Gastrostomy feeding in children at risk for aspiration or poor weight gain
- Until G-tube is done, nasogastric (NG) tube or nasojejunal (NJ) tube can be used
- Gastrointestinal dysfunction:
- Acid neutralizers and secretion inhibitors
- Prokinetic agents to increase motility
- Probiotics to help maintain naturally occurring GI bacteria
- Anti-reflux Nissen fundoplication during g-tube placement
- Management for constipation
- Growth and nutrition:
- Follow individual’s growth velocity curve, BMI will underestimate body fat because it overestimates muscle mass.
- Patients with SMA are normally in the lower percentiles in weight
- Calcium and Vitamin D supplementation if necessary
- Acute Care:
- Risk of hypoglycemia during fasting; full caloric needs should be met within 4-6 hours of admission to hospital.
- Post-operative caloric supplementation, by IV if necessary
IV. Orthopedics Care and Rehabilitation
1. Problems:
- Muscle weakness causing contractures, spinal deformity, and increased pain risk
- Osteopenia (reduced bone density) and fractures
2. Evaluation:
- For nonsitters include:
- Physical exam
- Speech therapy evaluation for speech or swallowing impairment
- For sitters:
- Functional assessment (including GMFM and Hammersmith Functional Motor Scale for SMA, among others)
- Contracture measurement (goniometry: measuring the angles that joints make)
- Spine and hip radiographs
- Equipment evaluation: manual and power mobile device
- For walkers:
- Balance and ambulation evaluations
- Joint and spine evaluation for range of motion and alignment
- Activities of daily living (ADL) assessment, mobility and adaptive equipment
- Spine and hip radiographs
- Non-spine x-rays and DEXA (Dual Energy X-Ray Absorptiometry) for bone density
3. Management:
- For nonsitters:
- Nutritional support
- Management of posture for comfort and function, along with pain management
- Therapy, wheelchair, equipment, and controls to assist with ADL
- Limb orthotics for upper extremities to help with functionality, and management of contractures with splinting
- For sitters:
- Wheelchair mobility and environmental controls
- Managing contracture and maximizing joint mobility: stretching and bracing for flexibility; serial casting; and ankle-foot and/or upper extremity orthotics
- Standing and exercise
- Spine orthotics and surgery (see below)
- For walkers:
- Wheelchair for longer distances, along with environmental controls and driver’s education for maximal independence
- Contracture management
- PT and OT
- Walking and exercise, which can include swimming, horseback riding, and adaptive sports
- Spine and limb orthotics and surgery (see below)
4. Orthotics:
- Should be fitted by someone that has a background working with neuromuscular disorders, and that works cooperatively with the family.
- Spinal orthoses are not proven to delay curve progression, though they may be used for postural support. When used, they need to have an abdominal cut to allow for diaphragmatic expansion and g-tube access.
5. Orthopedic Surgery:
- Hip subluxation (a type of partial dislocation): Surgery is not usually indicated because it is rarely painful in SMA patients.
- Soft tissue release: This may help walkers for whom regular shoes are painful.
- Scoliosis surgery: Earlier is better. The procedure appears to be beneficial in patients that survive beyond two years of age, though pulmonary benefits remain controversial. As with any surgery, complications can occur and careful consideration should be given before an SMA patient that can already walk undergoes scoliosis surgery.
V. Palliative Care
- Families should be presented with all care options, in an open, fair, and balanced manner, to be started soon after the diagnosis.
- G-tube placement is better done relatively early.
- Families should also be encouraged to discuss and determine early the appropriate response to potential life-threatening respiratory insufficiency. These sorts of choices do not need to be binary or unchanging with circumstance, however.
- Regardless of whether interventional supportive care is opted for or not, appropriate medical, social, and spiritual assistance should be made available throughout the process.
