Treatments for Down Syndrome

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Down syndrome (trisomy 21) isn't a disease or condition that can be managed or cured with medication or surgery. The goal of treatment, therefore, is not to address the disorder itself, but rather the variety of health issues, medical conditions, and physical, developmental, and intellectual challenges that people with Down syndrome may experience throughout their lives. Options can range from physical therapy and early intervention to assistive devices, medications, and even surgeries.

Therapies

Most kids with Down syndrome need therapies of various types. Some are focused on helping patients reach physical milestones at the same rate as those who don't have the disorder. Others are aimed at helping them become as independent as possible when they reach adulthood.

Early Intervention

The sooner children with Down syndrome receive the individualized care and attention they need to address their specific health and developmental issues, the more likely they are to reach their full potential. In fact, the Individuals With Disabilities Education Act (IDEA) mandates that all children born with Down syndrome should begin receiving early intervention services as soon after birth as possible.

Early intervention, according to the NDSS, is a "systematic program of therapy, exercises, and activities designed to address developmental delays that may be experienced by children with Down syndrome or other disabilities." Early intervention typically includes these three types of therapy:

  • Physical therapy: Most babies with Down syndrome have hypotonia (low muscle tone) that can slow their physical development and, if not treated, lead to problems such as bad posture later in life. Physical therapy can help them to develop muscle tone and strength, and also teach them how to move their bodies in appropriate ways that help their daily functioning.
  • Speech therapy: Children with Down syndrome often have small mouths and slightly enlarged tongues—features that can make it hard for them to speak clearly. These problems can be made worse in children with hypotonia because low muscle tone can affect the face. Hearing loss also can affect speech development. With speech therapy, a child with Down syndrome can learn how to overcome these obstacles and communicate more clearly. Some kids also benefit from learning and using sign language.
  • Occupational therapy: This type of therapy helps children develop the skills they'll need to be as independent as possible. This can include a range of activities from learning to pick up and let go of objects to turning knobs, pushing buttons to self-feeding and dressing.

    The goal of this multifaceted approach to treating Down syndrome is to help people with the disorder successfully make the transition from living with their families as children to living as independently as possible as adults (which may, though not always, mean living in a group home or sharing a home with other people with Down syndrome). 

    Assistive Devices

    Thanks to advances in technology, there is an ever-growing array of items that can help people with Down syndrome negotiate their individual challenges more easily and successfully. Some—like hearing aids and glasses—are the same devices that are useful for people who do not have Down syndrome but who share certain concerns that are common among those with trisomy 21, such as hearing loss and vision problems.

    Beyond that, there are all sorts of assistive devices that are especially helpful for learning. These range from simple items like three-sided pencils and spring-loaded scissors that are easier to hold and manipulate to more elaborate devices such as computers with touchscreens or keyboards with large letters.

    As with all treatments for Down syndrome, which assistive devices a child with the disorder will benefit from most will depend on the extent and type of his or her physical, developmental, and intellectual disabilities. Your child's physical therapist, occupational therapist, social worker, and classroom aid likely will be aware of the options that will be most helpful and how to obtain them if they aren't readily available. 

    Prescriptions

    Many of the health problems that affect someone with Down syndrome can be managed with medication—typically the same medication that would be given to a person who doesn't have Down syndrome.

    For example, according to the National Down Syndrome Society (NDSS), around 10 percent of people with the disorder are born with a thyroid problem or develop one later in life. The most common of these is hypothyroidism, in which the thyroid gland doesn't produce enough of a hormone called thyroxin. People with hypothyroidism—with or without the additional diagnosis of Down syndrome—usually take a synthetic form of the hormone (levothyroxine) by mouth to manage the condition.

    Because Down syndrome can cause a variety of health conditions at once, many of those who have it also have a number of different doctors and specialists. The NDSS cites a potential problem with this, noting that, although it's "common for several doctors to be involved in prescribing medications for one individual, they may not be communicating with one another at all. It is important to be proactive with management of the medication list, making sure that both prescriptions and over-the-counter drugs, along with their doses and frequencies, are up to date."

    In other words, if you're a parent of someone who has Down syndrome, you should take the reins in making sure that your child's various doctors know about all prescription medications, over-the-counter drugs, and supplements they take regularly to help prevent dangerous interactions between them.

    It's also important to note that aging brings the same set of challenges for people with Down syndrome as for everyone else, including increased risk of conditions such as depression and Alzheimer's disease. The treatment is similar, too.

    One difference for caregivers and even doctors, however, may be that it can be harder to notice the onset of these types of conditions in someone who has trouble communicating clearly about what he or she is feeling. Caregivers and doctors should be alert for signs that older people with Down syndrome may be developing additional disorders and may, as a result, now require additional treatment.

    Surgeries

    Down syndrome is also associated with certain health issues that may need to be treated surgically. It would be impossible to list all the potentials, since the medical challenges caused by Down syndrome vary so widely among individuals, but these are some of the more common ones:

    For Heart Defects

    Certain birth defects are common in babies with Down syndrome. One of these is an atrioventricular septal defect (AVSD), in which a hole in the heart interferes with normal blood flow. An AVSD is treated surgically by patching the hole and, if necessary, repairing any valves in the heart that may not close completely.

    According to the Centers for Disease Control and Prevention (CDC), even with surgery, there can be lifelong complications from AVSD, including a leaky mitral valve, which can cause the heart to work harder than normal. For this reason, people born with an AVSD have to be followed by a cardiologist (heart specialist) throughout their lives; if they develop a leaky mitral valve, it may need to be surgically repaired.

    For Gastrointestinal Problems

    Some babies with Down syndrome are born with a deformity of the duodenum (a tube that allows digested food to pass from the stomach into the small bowel) called duodenal atresia. It requires surgery to be repaired but isn't considered an emergency if there are other more pressing medical issues. Duodenal atresia can be dealt with temporarily with a tube placed to decompress swelling in the stomach and intravenous fluids to treat dehydration and electrolyte imbalances that often result from the condition.

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