Down syndrome is a condition in which a person has an extra chromosome.

What is Down Syndrome?

Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.

Even though people with Down syndrome might act and look similar, each person has different abilities. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

Some common physical features of Down syndrome include:

• A flattened face, especially the bridge of the nose
• Almond-shaped eyes that slant up
• A short neck
• Small ears
• A tongue that tends to stick out of the mouth
• Tiny white spots on the iris (colored part) of the eye
• Small hands and feet
• A single line across the palm of the hand (palmar crease)
• Small pinky fingers that sometimes curve toward the thumb
• Poor muscle tone or loose joints
• Shorter in height as children and adults

How Many Babies are Born with Down Syndrome?

Down syndrome remains the most common chromosomal condition diagnosed in the United States. Each year, about 6,000 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 in every 700 babies.

Types of Down Syndrome

There are three types of Down syndrome. People often can’t tell the difference between each type without looking at the chromosomes because the physical features and behaviors are similar.

• Trisomy 21: About 95% of people with Down syndrome have Trisomy 21. With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
• Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%). This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
• Mosaic Down syndrome: This type affects about 2% of the people with Down syndrome. Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.

Causes and Risk Factors

• The extra chromosome 21 leads to the physical features and developmental challenges that can occur among people with Down syndrome. Researchers know that Down syndrome is caused by an extra chromosome, but no one knows for sure why Down syndrome occurs or how many different factors play a role.
• One factor that increases the risk for having a baby with Down syndrome is the mother’s age. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age. However, the majority of babies with Down syndrome are born to mothers less than 35 years old, because there are many more births among younger women.

Diagnosis

There are two basic types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby. Diagnostic tests can typically detect whether or not a baby will have Down syndrome, but they can be more risky for the mother and developing baby. Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby; no one can predict this.

Screening Tests

Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother’s blood (e.g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid behind the baby’s neck. Extra fluid in this region could indicate a genetic problem. These screening tests can help determine the baby’s risk of Down syndrome. Rarely, screening tests can give an abnormal result even when there is nothing wrong with the baby. Sometimes, the test results are normal and yet they miss a problem that does exist.

Diagnostic Tests

Diagnostic tests are usually performed after a positive screening test in order to confirm a Down syndrome diagnosis. Types of diagnostic tests include:

• Chorionic villus sampling (CVS)—examines material from the placenta
• Amniocentesis—examines the amniotic fluid (the fluid from the sac surrounding the baby)
• Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord

These tests look for changes in the chromosomes that would indicate a Down syndrome diagnosis.

Other Health Problems

Many people with Down syndrome have the common facial features and no other major birth defects. However, some people with Down syndrome might have one or more major birth defects or other medical problems. Some of the more common health problems among children with Down syndrome are listed below.⁸

• Hearing loss
• Obstructive sleep apnea, which is a condition where the person’s breathing temporarily stops while asleep
• Ear infections
• Eye diseases
• Heart defects present at birth

Health care providers routinely monitor children with Down syndrome for these conditions.

Treatments

Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.

In recent years, Down syndrome has become more common, and children with Down syndrome are living longer. Read below for recent statistics on Down syndrome in the United States.

How many people are living with Down syndrome in the United States?

Babies:

• Down syndrome continues to be the most common chromosomal disorder. Each year, about 6,000 babies are born with Down syndrome, which is about 1 in every 700 babies born.
• Between 1979 and 2003, the number of babies born with Down syndrome increased by about 30%.
• Older mothers are more likely to have a baby affected by Down syndrome than younger mothers. In other words, the prevalence of Down syndrome increases as the mother’s age increases. Prevalence is an estimate of how often a condition occurs among a certain group of people. To estimate the prevalence of Down syndrome, the number of pregnancies affected by Down syndrome is compared to the total number of live births.

Children and Adults:

• In 2002, about 1 out of every 1,000 children and teenagers (0 to 19 years old) living in the United States had Down syndrome. This means that in 2002 about 83,000 children and teenagers were living with Down syndrome.
• Researchers estimated that in 2008 about 1 out of every 1,200 people (children, teens, and adults) living in the United States had Down syndrome. This means that in 2008 about 250,700 children, teens, and adults were living with Down syndrome in the United States.

What is the life expectancy for people with Down syndrome?

• The life expectancy of people with Down syndrome increased dramatically between 1960 and 2007. In 1960, on average, persons with Down syndrome lived to be about 10 years old. In 2007, on average, persons with Down syndrome lived to be about 47 years old.
• Many factors can affect how long a person with Down syndrome lives.
  • Sometimes infants with Down syndrome are born weighing less than 1,500 grams, or about 3.3 pounds. This is called “very low birth weight.” These babies are 24 times more likely to die in the first 28 days of life compared to infants with Down syndrome of normal birth weight (between 2,500 grams and 4,000 grams, or between 5.5 and 8.8 pounds).
  • Black or African-American infants with Down syndrome have a lower chance of surviving beyond the first year of life compared with white infants with Down syndrome. More research is needed to help understand why.
  • Infants with Down syndrome who also had a congenital heart defect (CHD) were five times more likely to die in the first year of life compared to infants with Down syndrome who did not have a CHD.
• Between 1983 and 2003, about 93% of babies born with Down syndrome survived to one year of age. In the same time period, about 88% of babies born with Down syndrome survived to 20 years of age.
• The number of infants with Down syndrome that die before one year of age has declined over time. For example, between 1979 and 2003, among babies with Down syndrome, the rate of death during the first year of life declined from 8.5% to 5.0%, a decrease of about 41%. For comparison, the rate of death during the first year of life among all babies in the general population declined from 1.5% during 1979-1983 to 0.9% during 1999-2003, a decrease of about 40%.

What other health conditions affect people with Down syndrome?

• About 50% of all babies born with Down syndrome are also born with a congenital heart defect. Babies with Down syndrome can be affected by a wide variety of heart defects. Many of these conditions will need surgery, while some milder heart defects might go away on their own as the child grows and may only need to be monitored by a healthcare provider.
• Compared to children without Down syndrome, children with Down syndrome are at higher risk for:
  • Hearing loss (up to 75% may be affected)
  • Obstructive sleep apnea, a condition where a person’s breathing temporarily stops while asleep (between 50 -75%)
  • Ear infections (between 50 -70% may be affected)
  • Eye diseases, like cataracts (up to 60%)
  • Eye issues requiring glasses (50%)
  • Heart defects present at birth (50%)
  • Intestinal blockage at birth requiring surgery (12%)
  • Hip dislocation (when the thigh bone slips out of the hip socket) (6%)
  • Thyroid disease (a problem with metabolism) (4-18%)
  • Anemia (red blood cells can’t carry enough oxygen to the body) (3%)
  • Iron deficiency anemia (red blood cells don’t have enough iron to carry oxygen to the body) (10%)
  • Leukemia (1%) in infancy or early childhood
  • Hirschsprung disease (an illness of the gut that can cause constipation) (<1%)This article includes the American Academy of Pediatrics Health Supervision for children with Down syndrome from 2011.
• Older adults with Down syndrome have increased risk for developing Alzheimer’s disease.

What are the healthcare needs and costs for people with Down syndrome?

• Among children aged 0-4 years with private insurance, average medical care costs were 12 times higher for children with Down syndrome compared to children of the same age without Down syndrome.
• For infants with Down syndrome, those born with a heart defect had, on average, health care costs that were five times higher in the first year of life than for infants with Down syndrome who did not have a heart defect.
• A study used data from the 2005-2006 National Survey of Children with Special Healthcare Needs (NSCSHN) to look at the effects of Down syndrome on families. Responses from the NSCSHN questionnaire indicated the following:
  • Nearly 60% of families of children with Down syndrome provided health care at home. Health care included practices such as changing bandages, care of feeding or breathing equipment, and giving medication and therapies.
  • Over 40% of families of children with Down syndrome had a family member who stopped working because of the child’s condition.
  • About 40% reported the child’s condition caused financial problems.

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 (a sound "picture" of the heart) 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 half of children with Down syndrome have vision problems, including cataracts (clouding of the eye lens) 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. Up to three-quarters of children with Down syndrome have some hearing loss. Sometimes the hearing loss is related to structural problems with the ear. 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 much 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 much 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. Some children with Down syndrome have 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 [pronounced at-lan-to-AK-se-al] 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. Adults with Down syndrome may have many of these as well as additional health issues.

Growth charts for children with Down syndrome in the United States are available for download below. These charts can help healthcare providers monitor growth among children with Down syndrome and assess how well a child with Down syndrome is growing when compared to peers with Down syndrome.

Clinical Growth Charts

The clinical charts are shown in metric units (kilograms and centimeters). Each chart is available for boys and girls. Each chart shows the 5^th, 10^th, 25^th, 50^th, 75^th, 90^th, and 95^th percentiles. The available charts include the following:

For children from birth to 3 years of age:

• Weight in kilograms*
• Length/height in centimeters (length is measured unless the child can stand unsupported, in which case height is measured)
• Head circumference (measurement around a child’s head in the largest area)
• Weight-for-length

*Weight percentile curves start at age 0 months; other “birth to 3 years of age” growth curves start at 1 month of age.

For individuals aged 2-20 years:

• Weight
• Height
• Head circumference

Methods and Development

The information below is provided to help you read and interpret the growth charts for children with Down syndrome.

What is a percentile?
Percentiles are the most commonly used indicator to assess the size and growth patterns of individual children in the United States. Percentiles rank the position of an individual by indicating what percent of the reference population the individual would equal or exceed. The reference population is the group of individuals whose growth patterns were used to develop the growth charts.

What is a z-score?
A z-score is a measure of how an individual relates to the average value for the reference population. A z-score has a direct relationship to percentiles.

My child is at or below the 5th percentile on a chart, what should I do?
If you are concerned about your child’s growth, talk with your child’s healthcare provider.

Are there considerations I should keep in mind when using these charts?
Specialized growth charts, like these new growth charts for children with Down syndrome, provide useful growth references for children with Down syndrome, but may have some limitations. For example, for this study the researchers took growth measurements from a group of 637 individuals with Down syndrome recruited from medical and community locations, mostly from the Philadelphia area. These children might not be representative of all children with Down syndrome in the United States.

More and more youth and young adults with Down syndrome are achieving some of the same milestones as other young people, such as driving a car and finishing high school. As they start to live more independently, young people with Down syndrome get jobs, move into group homes or individual housing, or pursue further education, often at community colleges. Families may need to be advocates to ensure that their young adult children don’t “fall through the cracks.” Sometimes, young people with Down syndrome in the midst of these transitions start to do worse in school or undergo major mood changes. In these cases, additional school assistance or evaluation for hypothyroidism or depression may be appropriate.

Many adolescents and adults with Down syndrome find success in jobs. The Americans with Disabilities Act (ADA) makes it illegal for an employer of more than 15 individuals to discriminate against people with disabilities who are qualified to carry out a particular job, and the law requires employers to provide reasonable accommodation. When considering whether their older child with Down syndrome might be ready to look for work, parents should keep several factors in mind: Success depends on a healthy sense of self-esteem, the ability to complete tasks without help, a willingness to separate emotionally from family, and access to personal recreational activities. Assistive electronic devices can help, too.

Adolescents often switch from care by a pediatrician to adult care, and this change can be difficult for young people with Down syndrome. Families and young people with Down syndrome often have strong bonds of trust with their pediatricians, and adult health care providers may be poorly prepared to meet the needs of maturing patients with Down syndrome. Individuals who receive care at special Down syndrome clinics that provide lifelong care might prefer to stay with the providers at these clinics as adults.

Teenagers with Down syndrome undergo hormonal changes like any other teen. Parents should encourage their teenagers with Down syndrome to develop independent skills in hygiene and self-care, to be aware of privacy issues, and to manage their behavior appropriately. Teenagers with Down syndrome also should be educated about puberty, sexuality, sexual activity, and the consequences of such activity. Males with Down syndrome generally have a reduced sperm count and are usually unable to father children. In contrast, females with Down syndrome have regular menstrual periods and can get pregnant and carry a baby to term. Therefore, health care providers and families should consider having discussions with their teens with Down syndrome about birth control and preventing sexually transmitted diseases (STDs).

The life expectancy for people with Down syndrome has increased substantially in the last few decades, to an average age of 50 years and beyond. In addition to living longer, people with Down syndrome now live fuller, richer lives than ever before as family members and contributors to their community. Many adults with Down syndrome form meaningful relationships and eventually marry. Now that people with Down syndrome are living longer, the needs of adults with Down syndrome are receiving greater attention. With assistance from family and caretakers, many adults with Down syndrome have developed the skills required to hold jobs and to live independently well into later adult life.

Increased life expectancy in individuals with Down syndrome puts them at risk as they age for developing mental health issues, such as depression. Death of parents, changes in caregivers, and medical issues often contribute to such changes in mental health. Individuals with Down syndrome seem to respond well to treatment with medication, but it is important that they follow instructions for taking these medications closely.

Premature aging is a characteristic of adults with Down syndrome, as is dementia, memory loss, and impaired judgment similar to that occurring in individuals with Alzheimer disease. Although much has been learned about Alzheimer disease as it affects individuals with Down syndrome, effective treatments and diagnostic tools that can identify early stages of dementia or the symptoms of mild cognitive impairment are still needed. Currently, changes in behavior may be the best indicators of dementia in people with Down syndrome. Families should look for associations between the type of behavior, how often the behavior occurs, when the behavior occurs, and the persistence of specific behaviors as a way to check for dementia and memory loss in a person with Down syndrome. Family members and caretakers may need to step in if the individual begins to lose the skills required for independent living.

Other medical issues associated with aging in individuals with Down syndrome include high cholesterol (which can be treated with medications), obesity, metabolic syndrome, diabetes, cataracts and other visual problems, and early menopause. In contrast, individuals with Down syndrome appear to be "protected" from certain diseases that are common in the elderly: they do not develop hardening of the arteries; they have fewer solid tumor cancers (for example, breast cancer), and they have low blood pressure.

Longitudinal studies of aging in Down syndrome (some ongoing for more than 25 years) reveal that healthy aging occurs in most individuals with Down syndrome if they continue to receive routine medical care and attention to their special needs.

Weight management can be challenging, especially for adults with Down syndrome. Part of the reason is due to the fact that there are factors for which our understanding is limited. While a great deal has been learned, more research is being done to improve our understanding and to learn how that knowledge can be used for improved weight management through exercise, diet, supplements, and/or medications.

Factors that can affect weight for individuals with Down syndrome:

• Hormones
• Physical activity
• Sleep
• Hypothyroidism
• Medications

What works for one person doesn't always work for another. No one plan fits all. It may be helpful to start with an assessment of problem areas. Are there times of the day or night when the person eats more? Does the person eat in response to stress or boredom? Are there particular foods that are a problem? Here are some basic tips:

• Build a healthy dietary approach to food.
• Reduce intake of processed foods.
• Hydrate.
• Review portion sizes.
• Review the other facets of eating.
• Consider a form of recording food intake.
• Include the person in meal prep.
• Prioritize physical activity.
• Family involvement.

As we continue to learn more, there has been more discussion on addressing weight using medications and/or surgery. There may be approaches to consider and discuss with your health care provider, especially if there are health complications from obesity.

Many but not all people with Down syndrome develop Alzheimer’s disease when they get older.

People with Down syndrome are born with an extra copy of chromosome 21, which carries a gene that produces a specific protein called amyloid precursor protein (APP). Too much APP protein leads to a buildup of protein clumps called beta-amyloid plaques in the brain. The presence of beta-amyloid plaques is one of the hallmarks of Alzheimer's disease.

By age 40, most people with Down syndrome have these plaques, along with other protein deposits, called tau tangles, which cause problems with how brain cells function and increase the risk of developing Alzheimer’s symptoms. Estimates suggest that 50% or more of people with Down syndrome will develop dementia due to Alzheimer’s disease as they age.

This type of Alzheimer’s in people with Down syndrome is not passed down genetically from a parent to a child.

Down Syndrome and Alzheimer's Research

Scientists are working hard to understand why some people with Down syndrome develop dementia while others do not. They want to know how Alzheimer’s disease begins and progresses so they can develop drugs or other treatments that can stop, delay, or even prevent the disease process. They are also hopeful that research on Alzheimer's and Down syndrome will not only help those with both conditions, but also may lead to effective treatments for all people with Alzheimer's. Research in this area includes:

• Basic studies to improve understanding of the genetic and biological causes of brain abnormalities that lead to Alzheimer’s
• Observational research to measure cognitive changes in people over time
• Studies of biomarkers (biological signs of disease), brain scans, and other tests that may help diagnose Alzheimer’s — even before symptoms appear — and show brain changes as people with Down syndrome age
• Clinical trials to test treatments for dementia in adults with Down syndrome

Having a child with a birth defect can affect the entire family. It might be helpful to talk with families or other people who are affected by the same type of birth defect as you or your family member. Other people might have learned how to address some concerns and questions you have. Often, they can give you advice about good resources and share what worked best for them. Talking with other people may also provide emotional support and hope for the future.

Remember that the choices of one family might not be best for another family, so it’s important to understand all options and discuss them with a health care provider.

There are many ways to connect with other people, including in person, on the Internet or by telephone. The following sources can help you get started:

Health Care Providers

The person’s health care provider is one of the most reliable sources for contact information about support groups. The health care provider could be a primary care physician, genetic counselor, neurologist, neurosurgeon, orthopedist, developmental pediatrician, or a physical or occupational therapist. Hospitals in your area might also sponsor support groups.

National and Community Organizations

A national organization that focuses on the specific birth defect, such as Spina Bifida Association, might exist. Most national organizations have state or local branches, such as Spina Bifida Association of Georgia. State or local area March of Dimes offices could also be helpful. United Way offices may be able to point out resources. Look in the phone book or on the Internet for phone numbers and addresses.

The following organizations have information about support groups

The Arc
The Arc website provides information to help children and families with Autism, Down syndrome, Fetal Alcohol Syndrome, and many other intellectual and developmental disabilities. The Arc is an advocate for individuals with intellectual and developmental disabilities, providing support and services for affected children and families.

Brave Kids
The Brave Kids website has an online resource for children with special needs and their families. There are message boards, resources, and games.

The Compassionate Friends
The Compassionate Friends website offers help to families in dealing with grief following the death of a child of any age.

Family Voices
Family Voices is an organization promoting quality health care for all children and youth, particularly those with special health care needs.

The Father’s Network
The Fathers Network provides information and resources to help families raising children with special health care needs and developmental disabilities.

March of Dimes
MOD works to assure that babies are born healthy. Through research, outreach, education, and advocacy, MOD addresses issues such as prematurity, low birth weight, and birth defects.