While there are many treatments for Down syndrome, Down syndrome is not a condition that can be cured. However, there are treatments and therapies for the physical, medical and cognitive problems associated with Down syndrome. The goal of medical treatments in Down syndrome are to manage the medical conditions associated with Down syndrome, while early intervention and therapies help many people with Down syndrome live long productive lives.
People with Down syndrome are at increased risk for certain medical problems. Some of the problems commonly faced by people with Down syndrome include heart defects, thyroid, muscle, joint, vision and hearing problems. Other conditions seen less frequently in Down syndrome include leukemia, and seizures. A variety of different approaches are used to treat these medical conditions.
Medications can be used to treat certain conditions that occur in people with Down syndrome. For example, if a person with Down syndrome has a seizure disorder, they would benefit from taking anti-seizure medications. People with thyroid problems often take thyroid replacement hormones. While these medications help with their medical condition, they do not have any effect on their Down syndrome. At this point in time, there is no medicine that will cure Down syndrome.
The baby’s pediatrician will be the main person managing your infant’s health issues. Most pediatrician’s have experience dealing with the common medical issues seen in children with Down syndrome. If your child has a heart defect, they will also be followed by a heart specialist called a cardiologist. Children with thyroid problems are often seen by pediatric endocrinologists (a doctor that specializes in hormones).
The hearing and vision problems seen in children with Down syndrome are no different from those seen in other children. Hearing problems are evaluated by an audiologist and children with vision problems will see an optometrist or ophthalmologist.
Some medical conditions seen in children with Down syndrome require surgery. For example, about 40% of children with Down syndrome have congenital heart defects. Some of these defects are mild and may fix themselves, and some heart defects are more severe and will require surgery. Children with Down syndrome can have intestinal defects that also require surgery. The need for surgery does not correlate with the cognitive defect in Down syndrome. In other words, just because a baby needs surgery, there is no reason to suspect that they have a “more severe” case of Down syndrome.
Children with Down syndrome are almost always referred to early intervention programs shortly after birth. Early intervention is a program of therapies, exercises and activities designed to specifically help children with Down syndrome or other disabilities. In fact, federal law requires that each state provide early intervention services for all children who qualify, with the goal of enhancing the development of infants and toddlers and helping families understand and meet the needs of their children. The most common early intervention services for babies with Down syndrome are physical therapy and speech therapy.
Physical therapy focuses on motor development. Since most children with Down syndrome have hypotonia or low muscle tone, the goal of physical therapy is to teach the children with Down syndrome to move their bodies in appropriate ways, and to improve their muscle tone. Working with their muscles and movements will help children reach some of their motor milestones and will prevent them from developing problems, such as bad posture, that can accompany low muscle tone.
Speech therapy is a very important treatment for children with Down syndrome. Because children with Down syndrome often have small mouths and slightly enlarged tongues, they can have articulation problems. That is, they have trouble speaking clearly. These articulation problems can be compounded by their low muscle tone because you use your face muscles when you speak, and by their hearing problems. A speech therapist will work with an individual to help them learn to communicate clearly. This can be achieved through talking, or in the case of many children with Down syndrome, through sign language.
Many people with Down syndrome now live independent from their families in assisted living situations or group homes. In order to make this transition, it is important to foster self-help skills and work with a team of support professionals. Occupational therapists will help with learning the skills necessary to make these transitions.
Older Individuals with Down Syndrome
As people with Down syndrome age, they face a new set of challenges including psychiatric conditions such as depression, and Alzheimer’s disease. The management of these conditions in people with Down syndrome is no different than in people without Down syndrome. It is important that both caregivers and primary care providers are aware of the increased chance for these conditions and screen for them appropriately.
Coping with the emotional and practical aspects of Down syndrome can be overwhelming for caregivers. It can be helpful to meet with a social worker, counselor, or clergy member to talk about feelings or concerns. Joining a Down syndrome support groups can also be helpful. In support groups, patients and their family members get together to share what they have learned about coping with Down syndrome. In order to provide care to another, you must first take care of yourself.
American Academy of Pediatrics Policy Statements. Health Supervision for Children With Down Syndrome. Pediatrics 2001 107: 442-449.
Cassidy, Suzanne B. , Allanson, Judith E., (2001) Management of Genetic Syndromes. 1st ed. New York, NY; 2001.