HOW TO GIVE THE DIAGNOSIS OF DOWN SYNDROME TO PARENTS
The American Journal of Medical Genetics, reviewed the evidence in how to deliver a prenatal diagnosis of Down syndrome and made nine recommendations for physicians based on the results, among which showed that expectant couples:
- Prefer to receive a diagnosis from physician.
- Prefer to receive the diagnosis as soon as possible following definitive prenatal testing and in the company of their partner.
- Wish to receive the results of their definitive testing in person or at a pre-established time by phone.
- Want to be provided with accurate information about Down syndrome and medical conditions associated with the disorder.
- Value being given the opportunity to reach out to parents of children with Down syndrome.
In Pediatrics, the evidence of how to deliver a postnatal diagnosis and recommendations for how parents should receive a postnatal diagnosis, including:
- Obstetricians and pediatricians should be the persons to deliver the news, jointly, to new parents.
- The diagnosis should take place in a private setting as soon as a physician suspects a diagnosis of Down syndrome.
- Both parents should be informed together, if possible.
- Conversations should start with positive words, avoid language that conveys pity or sorrow, and not involve unsolicited personal opinions.
- Accurate, up-to-date information should be communicated, and information offered for local support groups and community resources
If physicians can implement a few simple measures such as these, hopefully all mothers will be able to say what one parent once wrote me, “Although the news was certainly difficult to hear at first, my doctor gave me the news in such a kind and sensitive manner.”
AMERICAN ASSOCIATION OF PEDIATRICS HEALTH CARE GUIDE IS AVAILABLE HERE - DOWN LOAD THE HEALTHCARE GUIDE
What is Down syndrome?
Down syndrome describes a set of cognitive and physical symptoms that result from an extra copy or part of a copy of chromosome 21.
Chromosomes carry the genes that tell the body to develop in certain ways and to perform certain functions. Most cells of the human body contain 23 pairs of chromosomes—one set of chromosomes from each parent— for a total of 46 chromosomes. People with Down syndrome have either a full or partial extra copy of chromosome 21, for a total of 47 chromosomes. (The syndrome is sometimes called 47,XX,+21 or 47,XY,+21 to indicate the extra chromosome 21.)
The extra chromosome disrupts the normal course of development and results in the physical features and intellectual and developmental disabilities associated with the syndrome.
The degree of intellectual disability in people with Down syndrome varies but is usually mild to moderate. Generally, children with Down syndrome reach key developmental milestones later than other children. People with the syndrome also are more likely to be born with heart abnormalities, and they are at increased risk for developing hearing and vision problems, Alzheimer disease, and other conditions.1 However, with appropriate support and treatment, many people with Down syndrome lead happy, productive lives. In recent decades, life expectancy for people with Down syndrome has increased dramatically, from 25 years in 1983 to 60 years today.
Down syndrome is named after John Langdon Down, the first physician to describe the syndrome systematically.
What conditions or disorders are commonly associated with Down syndrome?
In addition to intellectual and developmental disabilities, children with Down syndrome are at an increased risk for certain health problems. However, each individual with Down syndrome is different, and not every person will have serious health problems. Many of these associated conditions can be treated with medication, surgery, or other interventions.
Some of the conditions that occur more often among children with Down syndrome include:
- Heart defects. Almost one-half of babies with Down syndrome have congenital heart disease (CHD), the most common type of birth defect. CHD can lead to high blood pressure in the lungs, an inability of the heart to effectively and efficiently pump blood, and cyanosis (blue-tinted skin caused by reduced oxygen in the blood). For this reason, the American Academy of Pediatrics (AAP) Committee on Genetics recommends infants with Down syndrome receive an echocardiogram and an evaluation from a pediatric cardiologist. Sometimes, the heart defect can be detected before birth, but testing after birth is more accurate. Some heart defects are minor and may be treated with medication, but others require immediate surgery.
- Vision problems. More than 60% of children with Down syndrome have vision problems, including cataracts that may be present at birth. The risk of cataract increases with age. Other eye problems that are more likely in children with Down syndrome are near-sightedness, “crossed” eyes, and rapid, involuntary eye movements. Glasses, surgery, or other treatments usually improve vision. The AAP recommends that infants with Down syndrome be examined by a pediatric eye specialist during the newborn period, and then have vision exams regularly as recommended.
- Hearing loss. About 70% to 75% of children with Down syndrome have some hearing loss, sometimes because of problems with ear structures. The AAP recommends that babies with Down syndrome be screened for hearing loss at birth and have regular follow-up hearing exams. Many inherited hearing problems can be corrected. Children with Down syndrome also tend to get a lot of ear infections. These should be treated quickly to prevent possible hearing loss.
- Infections. People with Down syndrome are 12 times more likely to die from untreated and unmonitored infections than other people. Down syndrome often causes problems in the immune system that can make it difficult for the body to fight off infections, so even seemingly minor infections should be treated quickly and monitored continuously. Caregivers also should make sure that children with Down syndrome receive all recommended immunizations to help prevent certain infections. Infants with Down syndrome have a 62-fold higher rate of pneumonia, especially in the first year after birth, than do infants without Down syndrome, for example.
- Hypothyroidism. The thyroid is a gland that makes hormones the body uses to regulate things such as temperature and energy. Hypothyroidism, when the thyroid makes little or no thyroid hormone, occurs more often in children with Down syndrome than in children without Down syndrome. Taking thyroid hormone by mouth, throughout life, can successfully treat the condition. A child may have thyroid problems at birth or may develop them later, so health care providers recommend a thyroid examination at birth, at 6 months, and annually throughout life. Routine newborn screening may detect hypothyroidism at birth. However, some state newborn screening programs only screen for hypothyroidism one way, by measuring free thyroxine (T4) in the blood. Because many infants with Down syndrome have normal T4, they should be screened for levels of thyroid stimulating hormone (TSH) in these states as well.
- Blood disorders. Children with Down syndrome are 10 to 15 times more likely than other children to develop leukemia (pronounced loo-KEE-mee-uh), which is cancer of the white blood cells. Children with leukemia should receive appropriate cancer treatment, which may include chemotherapy. Those with Down syndrome are also more likely to have anemia (low iron in the blood) and polycythemia (high red blood cell levels), among other blood disorders. These conditions may require additional treatment and monitoring.
- Hypotonia (poor muscle tone). Poor muscle tone and low strength contribute to the delays in rolling over, sitting up, crawling, and walking that are common in children with Down syndrome. Despite these delays, children with Down syndrome can learn to participate in physical activities like other children.Poor muscle tone, combined with a tendency for the tongue to stick out, can also make it difficult for an infant with Down syndrome to feed properly, regardless of whether they are breastfed or fed from a bottle. Infants may need nutritional supplements to ensure they are getting all the nutrients they need. Parents can work with breastfeeding experts and pediatric nutritionists to ensure proper nutrition. In some cases, the weak muscles can cause problems along the digestive tract, leading to various digestive problems, from difficulty swallowing to constipation. Families may need to work with a gastroenterologist to overcome these problems.
- Problems with the upper part of the spine. One or two of every ten children with Down syndrome has misshapen bones in the upper part of the spine, underneath the base of the skull. These misshaped bones can press on the spinal cord and increase the risk for injury. It is important to determine if these spinal problems (called atlantoaxial instability) are present before the child has any surgery because certain movements required for anesthesia or surgery could cause permanent injury. In addition, some sports have an increased risk of spinal injury, so possible precautions should be discussed with a child’s health care provider.
- Disrupted sleep patterns and sleep disorders. Many children with Down syndrome have disrupted sleep patterns and often have obstructive sleep apnea, which causes significant pauses in breathing during sleep. A child’s health care provider may recommend a sleep study in a special sleep lab to detect problems and determine possible solutions. It might be necessary to remove the tonsils or to use a continuous positive airway pressure device to create airflow during sleep.
- Gum disease and dental problems. Children with Down syndrome may develop teeth more slowly than other children, develop teeth in a different order, develop fewer teeth, or have misaligned teeth compared to children who do not have Down syndrome. Gum disease (periodontal disease), a more serious health issue, may develop for a number of reasons, including poor oral hygiene. Health care providers recommend visiting the dentist within 6 months of the appearance of the child’s first tooth or by the time the child is 1 year old.
- Epilepsy. Children with Down syndrome are more likely to have epilepsy, a condition characterized by seizures, than those without Down syndrome. The risk for epilepsy increases with age, but seizures usually occur either during the first 2 years of life or after the third decade of life. Almost one-half of people with Down syndrome who are older than age 50 have epilepsy. Seizures can usually be treated and controlled well with medication.
- Digestive problems. Digestive problems range from structural defects in the digestive system or its organs, to problems digesting certain types of foods or food ingredients. Treatments for these problems vary based on the specific problem. Some structural defects require surgery. Some people with Down syndrome have to eat a special diet throughout their lifetime.
- Celiac disease. People with celiac disease experience intestinal problems when they eat gluten, a protein in wheat, barley, and rye. Because children with Down syndrome are more likely to have celiac disease, health care providers recommend testing for it at age 2 or even younger if the child is having celiac symptoms.
- Mental health and emotional problems. Children with Down syndrome may experience behavioral and emotional problems, including anxiety, depression, and Attention Deficit Hyperactivity Disorder. They might also display repetitive movements, aggression, autism, psychosis, or social withdrawal. Although they are not more likely to experience these problems, they are more likely to have difficulty coping with the problems in positive ways, especially during adolescence. Treatments may include working with a behavioral specialist and taking medications.
The conditions listed above are ones that are commonly found in children with Down syndrome.
What are common treatments for Down syndrome?
There is no single, standard treatment for Down syndrome. Treatments are based on each individual’s physical and intellectual needs as well as his or her personal strengths and limitations. People with Down syndrome can receive proper care while living at home and in the community.
A child with Down syndrome likely will receive care from a team of health professionals, including, but not limited to, physicians, special educators, speech therapists, occupational therapists, physical therapists, and social workers. All professionals who interact with children with Down syndrome should provide stimulation and encouragement.
People with Down syndrome are at a greater risk for a number of health problems and conditions than are those who do not have Down syndrome. Many of these associated conditions may require immediate care right after birth, occasional treatment throughout childhood and adolescence, or long-term treatments throughout life. For example, an infant with Down syndrome may need surgery a few days after birth to correct a heart defect; or a person with Down syndrome may have digestive problems that require a lifelong special diet.
Children, teens, and adults with Down syndrome also need the same regular medical care as those without the condition, from well-baby visits and routine vaccinations as infants to reproductive counseling and cardiovascular care later in life. Like other people, they also benefit from regular physical activity and social activities.
Early Intervention and Educational Therapy
“Early intervention” refers to a range of specialized programs and resources that professionals provide to very young children with Down syndrome and their families. These professionals may include special educators, speech therapists, occupational therapists, physical therapists, and social workers.
Research indicates that early intervention improves outcomes for children with Down syndrome. This assistance can begin shortly after birth and often continues until a child reaches age 3. After that age, most children receive interventions and treatment through their local school district.
Most children with Down syndrome are eligible for free, appropriate public education under federal law. Public Law 105-17 (2004): The Individuals with Disabilities Education Act makes it possible for children with disabilities to get free educational services and devices to help them learn as much as they can. Each child is entitled to these services from birth through the end of high school, or until age 21, whichever comes first. Most early intervention programs fall under this legislation.
The National Early Childhood Technical Assistance Center, run by the U.S. Department of Education, provides information and resources for parents and families looking for early intervention programs.
The law also states that each child must be taught in the least restrictive environment that is appropriate. This statement does not mean that each child will be placed in a regular classroom. Instead, educators will work to provide an environment that best fits the child’s needs and skills.
The following information may be helpful for those considering educational assistance programs for a child with Down syndrome:
- The child must have certain cognitive or learning deficits to be eligible for free special education programs. Parents can contact a local school principal or special education coordinator to learn how to have a child examined to see if he or she qualifies for services.
- If a child qualifies for special services, a team of people will work together to design an Individualized Educational Plan (IEP) for the child. The team may include parents or caregivers, teachers, a school psychologist, and other specialists in child development or education. The IEP includes specific learning goals for that child, based on his or her needs and capabilities. The team also decides how best to carry out the IEP.
- Children with Down syndrome may attend a school for children with special needs. Parents may have a choice between a school where most of the children do not have disabilities and one for children with special needs. Educators and health care providers can help families with the decision about what environment is best. Integration into a regular school has become much more common in recent decades, and IDEA requires that public schools work to maximize a child’s access to typical learning experiences and interactions.
A variety of therapies can be used in early intervention programs and throughout a person’s life to promote the greatest possible development, independence, and productivity. Some of these therapies are listed below.
- Physical therapy includes activities and exercises that help build motor skills, increase muscle strength, and improve posture and balance.
- Physical therapy is important, especially early in a child’s life, because physical abilities lay the foundation for other skills. The ability to turn over, crawl, and reach helps infants learn about the world around them and how to interact with it.
- A physical therapist also can help a child with Down syndrome compensate for physical challenges, such as low muscle tone, in ways that avoid long-term problems. For example, a physical therapist might help a child establish an efficient walking pattern, rather than one that might lead to foot pain.
- Speech-language therapy can help children with Down syndrome improve their communication skills and use language more effectively.
- Children with Down syndrome often learn to speak later than their peers. A speech-language therapist can help them develop the early skills necessary for communication, such as imitating sounds. The therapist also may help an infant breastfeed because breastfeeding can strengthen muscles that are used for speech.
- In many cases, children with Down syndrome understand language and want to communicate before they can speak. A speech-language therapist can help a child use alternate means of communication, such as sign language and pictures, until he or she learns to speak.
- Learning to communicate is an ongoing process, so a person with Down syndrome also may benefit from speech and language therapy in school as well as later in life. The therapist may help with conversation skills, pronunciation skills, understanding what is read (called comprehension), and learning and remembering words.
- Occupational therapy helps find ways to adjust everyday tasks and conditions to match a person’s needs and abilities.
- This type of therapy teaches self-care skills such as eating, getting dressed, writing, and using a computer.
- An occupational therapist might offer special tools that can help improve everyday functioning, such as a pencil that is easier to grip.
- At the high school level, an occupational therapist could help teenagers identify jobs, careers, or skills that match their interests and strengths.
- Emotional and behavioral therapies work to find useful responses to both desirable and undesirable behaviors. Children with Down syndrome may become frustrated because of difficulty communicating, may develop compulsive behaviors, and may have Attention Deficit Hyperactivity Disorder and other mental health issues. These types of therapists try to understand why a child is acting out, create ways and strategies for avoiding or preventing these situations from occurring, and teach better or more positive ways to respond to situations.
- A psychologist, counselor, or other mental health professional can help a child deal with emotions and build coping and interpersonal skills.
- The changes in hormone levels that adolescents experience during puberty can cause them to become more aggressive. Behavioral therapists can help teenagers recognize their intense emotions and teach them healthy ways to reach a feeling of calmness.
- Parents may also benefit from guidance on how to help a child with Down syndrome manage day-to-day challenges and reach his or her full potential.