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Prognosis ...

What Can We Expect? What Does the Diagnosis Mean for an Individual?

Each type of SMA varies among individual patients. This is crucial to remember when considering different aspects of an individual’s care. No two children will be exactly the same and thus treatment and care plans for each family should be tailored to meet their individual needs.
It is also important to remember that the brains of children with SMA are not affected at all and therefore their cognitive abilities remain normal. Individuals with SMA are usually very intelligent and children should be encouraged to participate in as many age- and developmentally-appropriate activities as possible, with adaptations made whenever necessary. It is essential that children with SMA are assisted in reaching their utmost potential in school, at home, and in their communities.

Ideally a team of clinicians that specializes in SMA and its specific complications should follow your child. Several hospitals throughout the country have designated clinics staffed with interdisciplinary team members who have expertise in caring for individuals with SMA and their families. Clinicians from different specialties (e.g., neurology and pulmonology) may gather at one time and see individuals and families together. In some healthcare centers, care may be provided by clinicians in different settings at different times. Either way, it is important that individuals with SMA and their loved ones feel comfortable with the care they are receiving. They should feel free to ask questions and receive honest answers from a team that they trust who can guide them in making decisions that are best for their children and families.

Interdisciplinary teams caring for people with SMA are often comprised of neurologists, nurses/nurse practitioners, pulmonologists/intensivists, orthopedics, genetic counselors, physical and/or occupational therapists, nutritionists, and social workers. Individuals with SMA and their family members work together with these interdisciplinary teams to create goals and personalized plans of care that best meet their needs as they change throughout the journey with SMA.
Having difficult conversations and making well-supported decisions before an emergency occurs will help families to be better prepared and to avoid making rash decisions at a stressful time. The World Health Organization (WHO) defines palliative care as “improving quality of life of patients facing life-threatening illnesses, and their families, through the prevention and relief of suffering by early identification and treatment of pain and other problems, whether physical, psychological, social or spiritual.”  Palliative care prepares families for these situations and should be provided along with whatever treatment options families choose. The palliative care team can help families develop specific goals that are in alignment with their values and what works best overall for their child and family. Some families may choose invasive measures or non-invasive measures of support, as described throughout this booklet, and some may choose comfort measures alone. Some families may opt for more or fewer options than other families, but all families make choices based on love. Every child and family with SMA can benefit from, and should receive, palliative care throughout the course of their illness, independent of the choices they make.

Parents and individuals with SMA have rights! No one should travel this journey alone without support. Most SMA or other interdisciplinary healthcare teams can provide you with the services necessary to assist you in meeting all of your needs. Don’t be afraid to say NO if something doesn’t seem right to you. Don’t be intimidated or afraid to ask questions. If you forget to ask something, or feel overwhelmed, call your healthcare provider or contact Families of SMA for suggestions.

Please see the booklet entitled Caring Choices for Families of Infants
Newly Diagnosed with SMA Type I for more information on individual
decision making.

SMA Type I (and some Type II) –What You Should Know

Most children with SMA Type I are diagnosed in infancy and much can be done to assist in their cognitive, physical, and emotional health from an early age. Members of the team caring for children with SMA Type I will discuss with families the options for therapy, as well as equipment specific to what each child needs.

Therapeutic Resources

A social worker or other team member can help families work with health insurance companies to ensure that children receive the services
they need. Young children are usually eligible for different types of therapies (i.e., physical, occupational, speech), often through Early Intervention or programs administered at the local community level.

Physical and Occupational Therapy

Instructions for range of motion exercises and other ideas for physical/occupational therapy initiated by licensed therapists are important no matter how young the child. Using balloons and feathers as toys makes for wonderful stimulation and offers children a feeling of independence and accomplishment. Games that encourage the act of reaching are another form of physical or occupational therapy that can be very helpful. A physical/occupational therapist can also suggest ideal seating systems and/or leg braces that will promote the greatest comfort and maximum mobility for children. Because the care of children with SMA differs from the care of many other children receiving physical and/or occupational therapy, it may be helpful for a child’s community-based physical or occupational therapist to be in contact with the therapists from the SMA team for specific instruction and/or suggestions.
Aqua therapy can be very helpful for children with SMA, as the buoyancy of the water allows movement of the arms and legs that otherwise may not be possible due to muscle weakness. Be sure that the water temperature is at least 90?F and that the child is positioned so that his or her head does not go into or under the water, in an effort to avoid episodes of aspiration (getting fluid into his/her lungs).

Nutritional and Feeding Needs

Infants and young children with SMA Type I must get adequate nutrition for proper brain growth and development. Children’s dietary needs should be discussed with a nutritionist knowledgeable about SMA who can recommend adjustments to feeds (e.g., formula, breast milk, cereal) to meet specific caloric needs (some formulas are better than others for children with SMA). At different times in the disease course, and sometimes in the context of a respiratory or other illness, young children may experience difficulty feeding and require a change in feeding or supplemental nutrition.
Children with SMA Type I usually lose their ability to chew and swallow food and water safely at different ages, depending on the severity of their disease. They may also have trouble managing their own secretions (saliva). If they continue to take nutrition and hydration orally, they are at high risk for aspirating (inhaling) food and water and developing respiratory problems if food and water reach the lungs (aspiration pneumonia). To prevent these complications, tube feeding is commonly offered to ensure that infants and children receive enough calories to grow and adequate fluid to remain hydrated.
There are a few options for tube feedings, including the following:
• Nasogastric (NG) tube: a small flexible tube is inserted through the nose down to the stomach [nasoduodenal (ND) or nasojejunal (NJ) tubes are placed farther, into two different areas of the small intestine beyond the stomach
• Gastrostomy (G) tube: a small tube is placed surgically directly into the stomach from outside
• Gastrostomy-jejunostomy tube (G-J) tube: a small tube that is placed surgically, directly into the stomach and the small intestine (jejunum)
Some children may also develop significant gastroesophageal reflux (a condition where food moves from the stomach back up toward the throat), and if this occurs, medication may be used to treat the symptoms, and the following procedure may be recommended to help treat both the inability to eat safely by mouth as well as the reflux:
• G-tube and Nissen fundoplication (stomach wrap)
While both options are invasive, they each have various advantages and disadvantages. NG tubes (or ND or NJ tubes) can be easily placed and easily removed, if necessary. They occasionally come out on their own and need to be replaced.
G-tube or G-J tube placement is permanent and easy to maintain, but this does require surgery and anesthesia. The option that is best for a child is determined through individual discussions between each family and their SMA care team.
Please see the booklet entitled Nutrition Basics for more information on the nutritional needs of individuals with SMA.

Respiratory Needs

Lung problems pose some of the greatest challenges to young children with SMA, and are variable and hard to predict. Infants can develop difficulty coughing (weak cough), which leads to an impaired ability to clear their upper and lower airway secretions. As they get older, they will develop difficulty breathing during sleep, and ultimately while awake. Due to poor development of the chest wall and lungs, young children may have trouble handling the normal colds of childhood. If children cannot clear secretions well, this can lead to pneumonia and respiratory failure. These infections can make already weak muscles around the lungs even weaker. Children with SMA Type I do not develop more respiratory illnesses than healthy children of the same age, but any illnesses they do contract are more dangerous because of muscle and lung weakness.
Respiratory care and support helps with lung function and breathing.
A pulmonary/respiratory specialist will work with families to develop respiratory goals and supportive measures that are specific to each child’s needs.
It is very important that children with SMA, family members, and anyone frequently around them receive immunizations to help prevent contagious diseases. Respiratory infections such as influenza, pneumonia, and whooping cough (pertussis) could have devastating consequences for a child with SMA. Fortunately, these are preventable with proper immunizations.

What Respiratory Equipment Will Children Need?

Individuals with SMA can benefit from the use of a In-Exsufflator Cough Machine (often called Cough Assist). The In-Exsufflator Cough Machine works by applying positive pressure into the airways to fill the lungs with air, and then rapidly shifts to negative pressure to pull the air out of the lungs. The rapid change in pressure from positive to negative produces a high flow from the lungs on exhalation that is similar to a cough. This technique, referred to as “mechanical insufflation-exsufflation,” avoids damage to the airways while also clearing the lungs of secretions (thick saliva and mucus). The device offers children greater comfort and quality of life without the use of invasive procedures and equipment.
Respiratory distress can be monitored by measuring the level of oxygen saturation in the blood using a tool called a pulse oximeter. A sensor is placed on the child’s finger or toe with a small clip or tape with a red light to monitor the oxygen saturation.
Children with SMA Type I usually require breathing support while sleeping. During colds or illness, all infants/children will require additional breathing support. Various types of respiratory care approaches and equipment can be life-saving during an illness. There are several options to consider.

What is Non-Invasive Respiratory Care?

Non-invasive describes a care approach or intervention that does not cut into or penetrate the body. Breathing support is placed on or outside the body.
As mentioned above, almost all children with SMA Type I need support to breathe and can benefit from a Bi-level Positive Airway Pressure (BiPAP) machine or mechanical ventilator while they sleep, starting at an early age.
BiPAP uses a mask over the nose to provide a higher volume of air into the lungs during inhalation, filling the lungs with more air than a child can breathe in on his/her own. The SMA team will explain in more detail about BiPAP if/when a child requires this form of breathing support.
Mechanical ventilators, or respirators, are more complex than BiPAP machines, but also allow for control of more variables (e.g., the specific size/volume of a breath, or the number of breaths per minute). They come in a variety of models. The nasal mask provides non-invasive respiratory care, whereas the others are more invasive forms of support (see below). The nasal mask does not work well for every child and family, for many reasons, and may become difficult to tolerate. If this is the case, or if a child needs breathing support 24 hours per day, the family should talk with their SMA team about other options for the child’s respiratory care.

What is Invasive Respiratory Care?

Invasive means that something penetrates into the body as part of the procedure. Needles, tubes inserted into the body, and surgery are all examples of invasive care.
Invasive respiratory care requires the use of mechanical ventilation, as described above. Mechanical ventilation can be delivered through a nasal mask, a mouthpiece while awake, a tube inserted into the throat, or through a tracheostomy tube, a surgical incision in the throat that allows for placement of a more permanent breathing tube (see below).
Initially, invasive respiratory care uses a breathing tube [endotracheal tube (ETT)], which is inserted through the mouth and throat, down into the upper trachea. The tube is then connected outside to a mechanical ventilator. Long-term use of endotracheal tubes, however, can cause damage by irritating the mouth and throat if not taken out within a few weeks. When ventilator support is required for extended periods of time, it becomes important for the family and SMA team to have discussions about what the next steps or options might be, and what is best for each child and his/her family.
One option to consider is the placement of a tracheostomy tube. A tracheotomy is a surgical procedure in which a hole is made in the front part of the neck into the large airway (trachea or windpipe), through which a tube can be inserted to help with breathing. A tracheostomy tube bypasses the mouth and vocal cords and goes directly from outside the skin of the neck into the trachea. A respirator or ventilator is connected to the tracheostomy tube. The word tracheostomy is used to describe the creation of the actual opening (stoma) in the neck, but tracheotomy and tracheostomy are interchangeable in this context.
It is important for families to understand their rights when it comes to making life-prolonging decisions for their children, and to understand that these are very personal decisions in which there is no “right” answer. Members of a hospital’s pediatric palliative care team can assist a family in making the decision that is best for them. Once a decision has been reached, it is important to make certain that all necessary medical personnel (and any other individuals with whom a family wants to share this decision) are fully aware of their wishes. It is also important to know that families may change their mind regarding these choices at different points throughout the journey with SMA, and they should always feel free to talk with their SMA care team at any time.

Please see the booklet entitled Breathing Basics for more information on the respiratory needs of individuals with SMA.

SMA Type II (and some Type III)–What You Should Know

In all types of SMA, there are many things that can be done to assist with the cognitive, physical, and emotional health of individuals living with the disease. Members of the SMA team will discuss with families the options for therapy and equipment that are specific to what each child needs.

Therapeutic Resources

Children with SMA Type II can benefit from physical and occupational therapy as well as aquatherapy, and in some cases hippotherapy (therapeutic horse-riding). Therapy is usually provided first through Early Intervention, and then through the school system, depending on the child’s age. Many children also receive additional therapy after school or at home. It can be helpful for parents or other caretakers to provide stretching and range-of-motion (ROM) exercises at home. Your physical/occupational therapist can suggest ideal seating systems and/or leg braces that will be most helpful to promote the comfort and maximum mobility of your child. Because the care of children with SMA differs from the care of many other children receiving physical and/or occupational therapy, it may be helpful for a child’s community-based physical or occupational therapist to be in contact with the therapists from the SMA care team for specific instruction and/or suggestions.
Children with SMA Type II may be able to sit unsupported but may first need assistance to get into a seated position, as previously mentioned. With assistance and bracing they may be able to stand, but are usually unable to walk.
It is important for SMA-affected children to be in an upright position at the earliest possible age. Standing is important in development as it allows for better respiratory function, improved bowel function, and greater mobility. Getting children into an upright position as much as possible, or tolerated, throughout the day is extremely beneficial. This may require advocacy on the part of the parents to encourage the use of standing aids in the classroom as well as at home.
There are several options to consider when choosing the appropriate standing aid:
• A standing frame and/or parapodium.
• A standing wheelchair is ideal for added mobility and independence. A child as young as 13 months can use this type of device.
• Bracing: Reciprocating Gait Orthosis (RGO’s) and weight bearing Knee Ankle Foot Orthosis (KAFO’s) usually work well for children with SMA Type II, and in some instances, children have been able to take some steps.
Use of the appropriate type of assistive device or walker with braces is important and various options should be explored with the SMA team’s physical/occupational therapist.
The use of a lightweight manual wheelchair can be an exciting option for a child with SMA Type II. It can provide mobility, independence, and a taste of adventure, while allowing them to use some of their own upper body strength. However, it should be understood that for true independence and mobility, and in cases when arm muscles are weak, a power wheelchair will be necessary. There are several different types of power wheelchairs available, and currently children with SMA are beginning to use them at two years of age. The physical therapist from the SMA care team can help families choose the wheelchair that is right for their child.
Weakness is usually greater in the legs than in the arms in SMA Type II; however some children may benefit from wrist or hand splints as well. This will be recommended by the therapist on the SMA care team when the need arises.
Scoliosis (curvature of the spine) occurs at some point in virtually all children with SMA Types I and II, and some with SMA Type III. The degree of the scoliosis will be a factor in deciding how to treat it. Because scoliosis can restrict breathing and pulmonary function, necessary treatment measures should be implemented early. Options for managing scoliosis include custom seating systems, seating aids, and a body jacket. Later, spinal surgery may need to be considered.

Nutritional and Eating Needs

The nutritional needs of a growing child are very important and proper dietary planning is essential in SMA Type II. Children with SMA Type II usually do not have swallowing problems, but this varies from child to child. Some children may have difficulty eating enough food by mouth to maintain their weight and growth, and a feeding tube may become necessary if the family decides this is best. Some children with Type II may also become overweight, and excessive weight can make mobility more difficult. It is essential to discuss each child’s specific dietary needs with the dietician/nutritionist from the SMA team who is knowledgeable regarding the specific nutritional needs of children with SMA Type II.
Please see the thorough explanation of feeding tube options under the section entitled SMA Type I - Nutritional and Feeding Needs.
Please see the booklet entitled Nutrition Basics for more information on the nutritional needs of individuals with SMA.

Respiratory Needs

Children and adolescents with SMA Type II may develop weakness of the muscles used for breathing and experience weakened coughing. Some individuals may require equipment to help them breathe easier such as a CoughAssist™ device or a BiPAP machine for nighttime use, especially during times of illness. In some cases, respiratory function may decrease further, making more invasive respiratory supports a consideration.

Please see the thorough explanation of non-invasive and invasive respiratory interventions described in the SMA Type I - Respiratory Needs section above for a review of these supports.

Please see the booklet entitled Breathing Basics for more information on the respiratory needs of individuals with SMA.

SMA Type III–What You Should Know

Therapeutic Resources

Individuals with SMA Type III can benefit from physical and occupational therapy and a specific plan should be developed by the physical/occupational therapist from the SMA care team that is tailored to meet each individual’s specific needs, which may vary greatly.
Individuals with SMA Type III have the ability to stand and walk independently. Fine shaking of the fingers and hands (tremors) can be seen, and symptoms of joint aches and overuse frequently occur. Difficulty walking, running, and climbing stairs may develop as individuals get older; some will lose the ability to walk independently in childhood, while others may remain ambulatory (able to walk) until adolescence or adulthood. As mentioned previously, the use of a walker and bracing may become necessary and recommendations for appropriate equipment can be made by the therapist on the SMA team. The use of a lightweight manual wheelchair may be considered for distance, as well as an electric scooter or other motorized chair, which will also be advised by the SMA team as needed.
Problems with the spine (scoliosis) may develop at various rates and ages, and bracing and surgery may also be considered as options when appropriate.

Please see the thorough explanation of therapies and equipment described in the SMA Type II - Therapeutic Resources section above for a review of mobility-assist devices.

Nutritional and Eating Needs

Swallowing difficulty may occur in SMA Type III, but less commonly and later in the disease course than in SMA Type II. Children and adults with Type III are at risk of becoming overweight as they age and are less able to be physically active. Dietary modifications should be made as necessary by the dietician/nutritionist on the SMA care team.

Please see the booklet entitled Nutrition Basics for more information on the nutritional needs of individuals with SMA.

Respiratory Needs

Minor weakness of cough, along with breathing difficulty at night, may occur in some cases of SMA Type III. Respiratory interventions as described in previous sections above (i.e. CoughAssist™ and/or BiPAP) may be recommended as needed.

Please see the booklet entitled Breathing Basics for more information on the respiratory needs of individuals with SMA.

Type IV: Adult Onset

As adults, individuals with SMA Type IV are likely aware of their personal weaknesses and limitations. They should work together with members of the SMA care team, such as physical and occupational therapists and nutritionists, to design the best possible exercise and diet program to maintain health and well-being. Therapists can also assist individuals in obtaining the equipment needed to get around and accomplish activities of daily living at home. Individuals should only do as much as they feel comfortable doing, and should seek out the necessary adaptations at home, school, and/or work, as well as in their vehicles. Individuals may also consider getting assistance with specific activities if needed (e.g. cooking, showering, dressing) as certain muscles grow weaker over time. A service pet may also be helpful at some point in the journey with SMA Type IV. As with Types I, II, and III, diet and nutrition are important factors in maintaining overall health, and a nutritionist can help develop individualized dietary plans.

Cognitive/Academic Needs

It is important to once again note that SMA does not affect the brain or its development, and thus it does not affect an individual’s ability to learn and succeed academically. From ages one to three, children will usually receive services through Early Intervention (EI) and will then have an Individualized Education Plan (IEP) or a 504 plan (named for Section 504 of the Rehabilitation Act and the Americans with Disabilities Act) that details the specific services and/or modifications and accommodations they will need in school after age three. Individuals with SMA usually receive physical and occupational therapy at school, as described above, and may be assigned a paraprofessional (individual teaching aide) or a one-to-one classroom aide to assist them in meeting their physical needs (e.g. getting around, lifting or moving objects in the classroom, using the bathroom). It is important to advocate for students with SMA to be placed in appropriate academic settings to optimize their intellectual growth. Their physical limitations should not limit them from receiving academic stimulation in a developmentally-appropriate environment. Classroom modifications may be necessary in some instances to accommodate their physical needs.

If you know someone who has been recently diagnosed with SMA,  please e-mail infopack@fsma.org to request a free informational packet.


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