Special Considerations in SMA Infants
Before and after confirmatory genetic testing is completed in an obviously severely affected infant, it is essential to work closely with parents to ensure that they understand what they may face in the months following the diagnosis, fully reviewing their options regarding supportive nutritional and respiratory interventions. This is particularly important to address early, since these infants are often diagnosed in the setting of an initial respiratory event and may already have bulbar insufficiency and respiratory insufficiency.
It is important that families be presented with a range of options and that quality of life for the entire family be preserved as much as possible. Many parents, when presented with options, choose to forgo invasive diagnostic and therapeutic procedures. However, others are anxious and willing to embrace a very proactive care plan if it means extending the life of their child.
It is vital to maintain open communication so that all caregivers are aware of choices already made as well as areas of continuing uncertainty regarding interventions to be considered.Proper positioning, daily passive range of motion, and use of alternative mattress systems or seating devices can enhance quality life. A flat car bed rather than a car seat is advisable for infants who rely primarily on abdominal breathing. If swallowing problems are mild, thickening the formula and positioning the infant properly can help to avoid aspiration of formula into the lungs.
However, families of Type I infants will almost certainly need to consider some alternative means of providing nutrition at some point. A nasogastric or nasojejunal tube (a slender tube which goes through the nose and down to the stomach or to the first part of the intestine) is often suffcient for prolonged periods of time, allowing the family time to consider the range of options.
More permanent options include gastrostomy or a combined Nissan/gastrostomy procedure. While surgery and general anesthesia clearly carry some potential risks, laparoscopic techniques are available that allow a more rapid recovery. In severely weak infants in whom general anesthesia is a concern, percutaneous gastrostomy with local anesthesia is an option. Given the SMA child's need to eat regularly, limiting fasting prior to such procedures and providing nutritional support immediately afterward will help to enhance recovery.
- Peri-operative Nutritional Care Guidelines for children with SMA
- Guidelines for Gastrostomy Tube Feeding for SMA Infants
Respiratory management is a challenge, presenting the greatest risk of death or serious disability in the weakest infants and children. The most aggressive approach, including tracheotomy and mechanical ventilation, does nothing to prevent disease progression. Complications such as tracheitis (infection involving the windpipe), sepsis (life-threatening infection in the blood) and ongoing respiratory complications can compromise quality of life.
Families may be pressured to make quick long-term decisions without adequate preparation when infants are intubated emergently due to respiratory crisis. However, the increasing availability of noninvasive ventilation techniques including bilevel positive pressure support (BiPaP), inexsufflator treatments (cough assist machine), percussion, postural drainage and suction can help allow such infants to be extubated more readily than in the past, providing an intermediary between tracheostomy and withdrawal of support. Perhaps more important, however, it offers families additional options for ongoing respiratory support on a daily basis at home, thus minimizing emergency room and hospital visits, and potentially extending lifespan in more moderately affected infants.
- Respiratory Care Guidelines in Neuromuscular Patients with Acute Respiratory Illness
- Post-operative Respiratory Care Guidelines for SMA Infants
An individualized approach to respiratory infection or compromise should be developed with the child's family and updated regularly with regard to choices surrounding a need for intubation. If the family chooses palliative care, hospice provides compassionate support for such families. The use of narcotic medication in this setting to reduce discomfort, along with proper positioning and a less aggressive respiratory support regimen, in concert with the family's wishes can minimize discomfort for the infant. It may be beneficial to have the family communicate with others who have experienced the loss of an infant with SMA type I during this difficult period.
A standardized approach to treatment when in the Pediatric Intensive Care Unit (PICU) can be very helpful in the treatment of children with SMA. Below are treatment guidelines used in the PICU units at the University of Utah Medical Center and Primary Children's Medical Center.