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Medical Information on Related Health Concerns

What health concerns are there for people with Down syndrome?

Children with Down syndrome are in need of the same kind of medical care as any other child. Pediatricians or family physicians should provide general health maintenance, immunizations; attend to medical emergencies and offer support and counseling to the family. There are, however, situations when children with Down syndrome need special medical attention.

Some health issues may be present at birth while others may not become evident until adulthood. In individual cases, the effects of Down syndrome vary widely. Some people with Down syndrome may experience many health issues, while some only experience a few.

Here are some healthcare guidelines for each age:

Based on "Health Supervision for Children with Down Syndrome" published in Pediatrics (Vol. 128, No. 2, August 1, 2011. pp. 393 - 406.)  Click here to see more.

For a complete list of what is needed for each age, see this electronic copy.

Neonatal (Birth - 1 Month): Your doctor should look at your child's digestion, their spine, their eyes, their blood count and any birth issues. For a complete list, click the link above.

Infant (1- 12 Months): Your doctor should assess hearing and vision, spine alignment, feeding and swallowing, assess any heart issues, give vaccines, order a hemoglobin count, order a thyroid test and talk to you about developmental therapies.

Child (1-5 years): Review and expand the infant tests to include any referrals for specialists needed in certain areas, and discuss child's progress in developmental therapies, radiological test for myelopathy (neck alignment). Look at teeth for proper dental eruption, give vaccines needed, assess sleep apnea or sleep issues.

Child (5-13 years): Discussion about therapies and school progress, annual vision and hearing tests, neck x-ray to assess myelopathy, and general expansion of above. Eye exams should be encouraged for every two years, and continued hearing tests. Discussion about body changes and maturity, pregnancy risks and ways to avoid this, skin changes, self-autonomy and independence. Discussion about other possible disorders such as ADHD.

Adolescent (13-21): Expansion of above and examine annually for acquired mitral and aortic valvular disease in older patients with Down syndrome.

Schedule an ophthalmologic exam, looking especially for cataracts (every three years).

Adult (22 and up): Expansion of above with the addition of pap smears, mammograms, clinical evaluations of the heart and sleep apnea, assessment of abuse in health care, autonomy, look at possible memory loss and dementia.

Here is a look at the most common health issues in people with Down syndrome.



"This is the state of not making enough thyroid hormone, and is the most common thyroid problem associated with DS. This can be present at birth (congenital) or may occur at any age (acquired). Every state in the US and many other countries routine screen all newborns for hypothyroidism. In newborns and infants with DS, the most common reason for hypothyroidism is that the thyroid did not form correctly in the fetus. In acquired hypothyroidism, the most common reasons in toddlers and older children with DS is (1) autoimmunity (where the body makes antibodies against its own thyroid) and (2) thyroiditis, where the thyroid tissue becomes replaced with white blood cells and fibrous tissue (Hashimoto thyroiditis).

The symptoms of low thyroid hormone are difficult to pick up, especially in infants. They include decreased growth, decreased development, an enlarged tongue, decreased muscle tone, dry skin and constipation -- all of which might be expected in an infant with DS. So, it is recommended that all infants with DS be checked at birth, 6 months of age, 1 year of age, and once a year thereafter for thyroid function, regardless of their growth." (Leshin, Len, MD, FAAP 1996-98).


"While not anywhere near as common as hypothyroidism, this condition does occur. The usual cause is, again, autoimmune disease, but in hyperthyroidism, the immune system cranks up the thyroid. (This is called Graves Disease.) Symptoms include rapid heart rate, nervousness, sweating, decreased attention span, flushed skin, always feeling hot and loss of hair. Often these children will have a noticeably enlarged thyroid.

Testing here includes TSH (low), T3 (elevated) and T4 (elevated).

There are three possible treatments of hyperthyroidism. One treatment is aimed at blocking the action of the thyroid hormone on body tissues. This involves the use of anti-thyroid drugs, and is often the first treatment used. However, almost all of these drugs can cause significant side effects. A second treatment is surgery to remove part or the entire thyroid; and then the child or adult is begun on thyroid replacement if needed. The third treatment is the use of radioactive iodide, which destroys the thyroid's ability to produce thyroid hormone. The patient then takes replacement thyroid hormone. However, radioactive iodide is not often used in children because of the risk of thyroid carcinoma.

At the present time, there is no clear consensus on the best way to treat hyperthyroidism in children with DS." (Leshin, Len, MD, FAAP 1996-98).


Sixty to 80 percent of children with Down syndrome have hearing deficits since the external ear and the bones of the middle and inner ear may develop differently. These hearing problems may be present early in life and can be corrected. Therefore, it is important to implement audiological assessments at an early age with follow-up hearing tests. With significant hearing loss, children should be seen by an ear, nose and throat specialist. (Sacks B, Wood A. Hearing disorders in children with Down syndrome. Down Syndrome News and Update. 2003;3(2);38-41.)

For more on hearing assessments, click here

Heart Defects

"Children with Down syndrome are at a much higher risk for congenital heart disease. As a comparison: the incidence of congenital heart disease in the general population is 0.8 percent. The incidence of congenital heart disease in children with Down syndrome is between 40-60 percent.

Some heart defects can be left alone with careful monitoring while others require surgery to correct the problem." (The National Association for Child Development).

The following types of heart defects in children with Down syndrome (below) are discussed here

Atrioventricular Septal Defects (AVSDs) – These are the most common in children with Down syndrome:

Ventricular Septal Defects (VSDs)

Atrial Septal Defects

Patent Ductus Arteriosus

Tetralogy of Fallot


Children with Down syndrome often have more eye problems than other children who do not have this chromosome disorder. Some of the eye problems that they most typically have refractive errors (the needy for glasses), strabismus (eye misalignment), and tear duct abnormalities.

More serious and less typical problems with the vision of those with Down syndrome include amblyopia (commonly called lazy eye) and cataracts.

Glasses and surgeries are available for these issues and are usually successful in greatly reducing the vision issues. (NDSS Interviewed DANIELLE LEDOUX, MD ASSISTANT IN OPHTHALMOLOGY AT CHILDREN'S HOSPITAL, BOSTON AND INSTRUCTOR IN OPHTHALMOLOGY AT HARVARD MEDICAL SCHOOL)  To see more, click here

Seizure Disorders

Seizure disorders, though less common than some of the other associated medical conditions, still affect between 5 percent and 13 percent of individuals with the condition, a tenfold greater incidence than in the general population. There is an unusually high incidence of infantile spasms or seizures in children less than 1 year of age, some of which are precipitated by neonatal complications and infections and cardiovascular disease. However, these seizures can be treated with medications.

Bone, Muscle, and Joint Problems

"Almost all of the conditions that affect the bones and joints of people with Down syndrome arise from the abnormal collagen found in Down syndrome. Collagen is the major protein that makes up ligaments, tendons, cartilage, bone and the support structure of the skin. One of the types of collagen (type VI) is encoded by a gene found on the 21st chromosome. The resulting effect in people with DS is increased laxity, or looseness, of the ligaments that attach bone to bone and muscle to bone. The combination of this ligamentous laxity and low muscle tone contribute to orthopedic problems in people with Down syndrome. While these conditions are more common in people with DS than in the general population, it is worthwhile to note that the majority of people with DS will not have any of the disorders I'm discussing in this essay. " (Leshin, Len, M.D. FAAP 2003)

Atlantoaxial instability, a malformation of the upper part of the spine located under the base of the skull, is present in about twenty to thirty percent of individuals with Down syndrome ( This condition can cause spinal cord compression if it is not treated properly.

Subluxation in Down syndrome can also include joint stability problems in the hips or knees. In people with Down syndrome, these joints may slip out of place (dislocate) because they are loose.

"Legg-Calve-Perthes (LCP) disease, in which the head of the femur loses its blood supply and the bone becomes weak and misshapen. LCP is slightly more common in children with DS than in the general population." " (Leshin, Len, M.D. 2003)

"Slipped capital femoral epiphysis (SCFE, also called "epiphysiolysis" can be seen in people with DS less frequently. In this condition, the rounded head of the femur slides on the neck of the femur. This condition can be associated with obesity and hypothyroidism, both of which are common in teenagers with DS. SCFE appears as a limp with associated pain in the hip or knee (hip conditions often cause knee pain instead of hip pain), and is treated by surgical placement of screws in the femur." (Leshin, Len, M.D. 2003)

"Flat foot, also called pes planus, is seen in the vast majority of people with DS. In mild cases, the heel is in a neutral position. In severe cases, the heel rotates so that the person is walking on the inside of the heel. Flat feet result in heavy calluses of the feet, pointing of the front part of the feet away from each other (the opposite of being "pigeon-toed"), and even the creation of bone spurs in the feet. Many cases respond to orthotics, but severe cases need surgical correction." (Leshin, Len, M.D. 2003)

People with Down syndrome often have hypotonic or low muscle tone. Because they have a reduced muscle tone and a protruding tongue, feeding babies with Down syndrome usually takes longer. Mothers breastfeeding infants with Down syndrome should seek advice from an expert on the subject to make sure the baby is getting sufficient nutrition. Hypotonia may affect the muscles of the digestive system, in which case constipation may be a problem.


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"BASED ON A mail survey in 1957, Krivit and Good1 concluded that, in the United States, children with Down syndrome (DS) had at least a threefold excess risk of developing acute leukemia. Barber and Spiers2 estimated that, in England and Wales, their excess risk was 10- to 100-fold. Recent analyses place their risk at a 10- to 20-fold increase."3-5 (Lange, Beverly J., Kobrinsky, N, Barnard, D.R., et. al.)

"In recent pediatric trials of acute myeloid leukemia (AML), children with Down syndrome (DS) have had significantly more megakaryoblastic leukemia and have experienced better outcome than other children." (Lange, Beverly J., Kobrinsky, N, Barnard, D.R., et. al.January 15, 1998 vol. 91 )

Immune System Problems and Infections

Compared to the general population, individuals with Down syndrome have a twelvefold higher mortality rate from infectious diseases if these infections are left untreated and unmonitored. These infections are due to problems in their immune systems, usually the T cell and antibody-mediated immunity functions that fight off infections.

Children with Down syndrome are also more likely to develop:

Chronic respiratory infections

Middle ear infections (otitis media)

Recurrent tonsillitis

In addition, there is a 62-fold higher incidence of pneumonia in children with Down syndrome than in the general population.

Gastrointestinal Issues

Click here for more information.

Problems with the gastrointestinal tract can either be caused by abnormal structure or may be because part of the tract is not functioning properly. Children with Down syndrome are more likely to have problems in both of these areas than the general population. Some of these problems are serious and life threatening and are likely to cause immediate problems in a newborn. Other issues may not be as serious, but nevertheless can cause considerable problems. Sometimes, gastrointestinal problems may not be noticeable by parents or doctors because some issues develop more slowly.

Gastrointestinal problems are a common cause of illness in all children. The more common problems include gastroenteritis (an infection affecting the stomach and intestines) and appendicitis. Regarding typical stomach and digestive problems, children with Down syndrome are no different than typically developing children. However, if a child with Down syndrome seems to have more gastrointestinal problems it is important to have a medical assessment which should consider both the common conditions as well as those that tend to more often affect children with Down syndrome.

Children with Down Syndrome have more difficulties with acid reflux and absorption than do typical children, and should be tested for Celiac's disease if they are not gaining the appropriate weight or holding down their food.

Developmental Delay

Children with Down syndrome may be developmentally delayed, often being slow to turn over, sit, stand and respond. This may be related to the child's poor muscle tone. Development of speech and language abilities may take longer than expected. However, children with Down syndrome do develop the communication skills they need.

Alzheimer's Disease

"Memory loss: Individuals with Down syndrome are more likely than unaffected individuals to develop Alzheimer's disease, which is characterized by progressive memory loss, personality changes and other problems. Adults with Down syndrome tend to develop Alzheimer's disease at an earlier age than unaffected individuals. Studies suggest that about 25 percent of adults with Down syndrome over age 35 have symptoms of Alzheimer's disease (2)." To see more, click here.  


Another concern relates to nutritional aspects. People with Down Syndrome have more frequent gastrointestinal issues, constipation and malabsorption. After working with your doctor to determine that your child does not have food allergies or difficulties with body organs; make sure that your child has a well-rounded diet with lots of fiber. To see more, click here

Down Syndrome Effects Summary

The doctor making the initial Down syndrome diagnosis has no way of knowing the intellectual or physical capabilities a child may have. Children and adults with Down syndrome have a wide range of abilities. A person with Down syndrome may be quite healthy, or he or she may present unusual and demanding medical and social problems at virtually every stage of life. Every person with Down syndrome is a unique individual, and not all people with the condition will develop all the medical disorders discussed.
Click here for a resource for families with extensive medical needs. 

Medical Visits Medical & Health Resources

When you give birth to a child with Down syndrome, you have given birth to a child who will need extra supports to navigate through life.

These are questions to consider.

1. Should I take child to a Family Doctor or a Pediatrician?

Family Doctor or Pediatrician:

Both types of doctors are trained to work with children, but there are subtle differences which are listed below.

Family Doctor: They have had three years of specialty training in family practice following medical school, and they must receive Members of the American Academy of Family Practice accreditation.

A family doctor can provide for anyone's health needs, but not all of them see a high percentage of children. This doctor can see your whole family, however, and be aware of family illnesses and genetic tendencies in your specific family, as well as family dynamics and attitudes towards nutrition and healthcare. A family doctor can provide great continuity of care, as your child can continue to see this doctor as an adult.

Pediatricians: They have had three years of specialty training in addition to medical school. Most that are board certified have also had to pass a stringent qualifying exam.

This doctor only sees children, teenagers, and occasionally, young adults. A pediatrician's focus throughout her office and exam rooms is the child which may be reflected in the décor and what is available for a child in the waiting room. Pediatricians focus on children's development, needs, and childhood illnesses. In general, pediatricians focus mainly on the child without as much family health knowledge as the family doctor has at his disposal.

2. Does my child have any additional diagnoses, and which of my child's needs can be further addressed through professional health care specialists and developmental resources?

Parents often has questions about whether their child's development and behavioral patterns are consistent with their diagnosis, or whether there may be additional issues that the child has, that they are not aware of.

Below are some professionals who can assist you with some of these questions.

Genetic Counselors: These counselors must obtain a Master's degree in Genetic Counseling from an ACGC Accredited Program.Parent(s) who discovered their child's special condition prenatally have usually been connected with a genetic counselor. Genetic counselors tend to carry a lot of materials from local health professionals, and may have some basic ideas of what your child may need for services. A Genetic Counselor should be able to give you the names of some developmental doctors or clinical geneticists that can assist you with future health decisions regarding your child.

Developmental Doctors: Developmental behavioral pediatricians, also known as developmental pediatricians, are doctors who receive specific sub-specialty training and certification within the field of developmental behavioral pediatrics after finishing a general pediatric residency. Board certification requires completion of a developmental behavioral fellowship and passing a national examination, followed by a continuing medical education. If you are concerned about developmental, learning, or behavioral problems, a Developmental-Behavioral Pediatrician is helpful in evaluating and coordinating care for your child. They can also be wonderful advocates for a child in the school setting by providing the school with their report and plan of action to take care of any issues that may be impacting a child at school.

Sometimes Developmental Doctors work in a hospital setting and have their own team of professionals working for them, which will be able to assess your child in many different areas, such as speech/language, gross motor skills, fine motor skills, and an overall general assessment with advice regarding other diagnoses that your child may have, as well as the child's developmental level.

Clinical Geneticists: A Clinical Geneticist is a branch of Medical Genetics which is the study of genes and hereditary diseases. A Clinical Geneticist is an M.D. or a D.O. who has then taken a minimum of 24 months of training in Medical Genetics, and usually a residency program to follow.

These programs are designed to provide the knowledge, understanding, and skills required for the competent diagnostic evaluation, management, and genetic counseling of patients with genetic disorders and their families. Individuals seeking acceptance into clinical genetics training programs must hold an M.D. or D.O. degree (or their equivalent) had have completed a minimum of 24 months of training

Clinical Geneticists can do blood-work for gene testing which they then analyze and utilize to advise a parent on other congenital conditions, and explain to them which type of Down syndrome their child has. (One type of Down syndrome, translocation, is genetic and may affect parents' decisions on more children.) In addition, this physician will most likely have some knowledge of what children with different diagnoses need and where to go to get more help for your child in his areas of need.

3. How can I assess whether my child with Down syndrome is getting enough specialized therapies?

Therapies for developmental delays and when to use them:

Most children with Down syndrome will be eligible in their schools and through early intervention agencies for Rehabilitative Therapy Services. Often parents will decide to obtain extra therapies for their child based on a doctor's recommendation, or due to parental concerns regarding child progress in certain areas. Most often parents must rely on their own judgment to make decisions regarding therapies outside of those provided by schools or state and educational programs.

If a child has difficulty sitting up, walking, standing, or bending, then Physical Therapy services may be warranted.

If a child has difficulty writing, using his/her hands, feeding his/herself or breathing correctly, then Occupational Therapy services may be warranted.

If a child has difficulty speaking, eating, drinking or breathing correctly, or according to age level, then Speech Language Therapy services may be warranted.

Other types of physicians and specialist that a child with Down syndrome often sees in conjunction with his/her health needs:

Cardiologist: Training includes abachelor's degree in order to get into medical school, and a passing score on the MCAT (Medical College Admission Test). The four years in medical school covers standard medical terminology, medical judgment and clinical standard procedures. Potential cardiologists who complete the ten years of educational preparation must then pass an exam administered by the American Board of Internal Medicine. After medical school, students attend six to eight more years of general internal medicine training and specialized cardiology training. The course topics covered in a cardiology training program include catheterization, patient prep, vascular access, hemodynamic studies, coronary anatomy, coronary angiography, radiographic imaging, fluoroscopy, congenital heart disease and circulatory support.

Cardiologists are doctors who specialize in heart conditions and often perform heart surgeries. (About half of the children born with Down syndrome have heart defects.

Otolaryngologists, who are otherwise known as Ear, Nose & Throat Doctors (ENTs) are physicians (MD, DO, MBBS, MBChB, etc.) who, in the United States, complete at least five years of surgical residency training. This is composed of one year in general surgical training and four years in otolaryngology–head and neck surgery; in the past it varied between two and three years of each.

Following residency training some otolaryngologists elect to complete advanced subspecialty fellowship training which can be 1–2 years in duration

Hearing problems can affect listening skills and language development. "Children with Down syndrome are prone to respiratory infections and persistent fluid in the middle ear.

(Parents may also elect to see an Audiologist for hearing issues.)

Some children also have an impaired immune system, which makes it hard for them to fight off infections. Respiratory infection can lead to serious problems, especially in children who also have heart defects." (

Gastroenterologists: Gastroenterologists have usually completed the eight years of pre-medical and medical education, the year-long internship (if this is not a part of the residency), three years of an internal medicine residency, and two to three years in the gastroenterology fellowship. Some gastroenterology trainees will complete a "fourth-year" (although this is often their 7th year of graduate medical education) in Transplant Hematology, Advanced Endoscopy, Inflammatory Bowel Disease (IBD), motility or other topics.

Children with Down syndrome are prone to constipation and have a greater chance of having Celiac disease. ("Constipation and intestinal blockages can develop because of poor muscle tone (hypotonic). Celiac disease, which is an inability to break down gluten protein, sometimes develops and requires a special diet." (

Oncologist: To become certified in the subspecialty of Medical Oncology, physicians must first be trained in internal medicine, and then complete graduate medical education fellowship training in Oncology to learn the specialize skills involved. The prospective Oncologist must then pas the Medical Oncology Certification Examination. (

Oncologists specialize in cancer treatment. (Children with Down syndrome have a greater likelihood to develop leukemia, which is more treatable in young children.)

Orthopedist: "In the United States, orthopedic surgeons have typically completed four years of undergraduate education and four years of medical school. Subsequently, these medical school graduates undergo residency training in orthopedic surgery. The five-year residency consists of one year of general surgery training followed by four years of training in orthopedic surgery.

Orthopedists work in the branch of medicine that deals with the prevention or correction of injuries or disorders of the skeletal system and associated muscles, joints, and ligaments." ( Orthopedists assess whether specialized therapies, braces or surgeries are appropriate to correct any skeletal or joint issue.

"A child with Down syndrome may have weak muscle tone (hypotonic). He or she may also have ligaments that are too loose (ligament laxity). This leads to excessive joint flexibility. Children with Down syndrome may have joints, such as the hip or knee, which slip out of place or become dislocated. Joint laxity in the neck may be excessive. This can lead to compression of the spinal cord." ( )

Podiatrist: Training includes either 90 credits in the appropriate scientific classes or a Bachelor's Degree with an emphasis on science. This is followed by a passed Medical College Admission Test (MCAT), and four years of medical school specializing in issues dealing with the foot, ankle and lower extremities.

The four-year podiatric medical school is followed by a 2-3 year surgical based residency, which is hands-on post-doctoral training. By July 2013, all residency programs in podiatry will be required to transition to a minimum three-year of post-doctoral training.

Podiatrists deal with foot conditions such as being flat footed, club footed, etc. and prescribe certain corrective arches, braces, surgeries and shoes for these and other foot issues. Fifty percent of all people with Down syndrome have gait issues due to problems with lax muscles and the way that affects their feet.