Conditions

Down Syndrome

Down syndrome (or Down's syndrome) is a condition caused by the presence of extra genetic material in the cell of a developing embryo. This condition usually results in mental retardation and distinctive physical abnormalities.

Down syndrome is usually caused by a phenomenon geneticists call nondisjunction, in which an error in cell division produces three copies of chromosome 21 instead of the normal two.

Signs and Symptoms:

An infant born with Down syndrome typically has characteristic physical traits such as:

• Small head
• Poor muscle tone
• Flat facial profile
• Slanted eyes
• Depressed nose bridge
• Low-set ears
• Furrowed tongue
• Single deep crease across the center of the palm (known as the simian crease)

People with Down syndrome are especially prone to having congenital heart disease and are more susceptible than most people to developing acute leukemia, thyroid disorders, and respiratory and digestive problems. Females with Down syndrome may menstruate and be fertile, males are almost always infertile.

The degree of mental retardation varies greatly among different individuals with Down syndrome.

Diagnosis:

The diagnosis of Down syndrome can often be made before birth, and screening is generally recommended for pregnant women over age 35. Low levels of alpha-fetoprotein in the mother's blood indicate an increased risk of Down syndrome in the fetus; a sample of amniotic fluid can then be taken by amniocentesis for analysis to confirm the diagnosis.

Using ultrasound scanning, a doctor can often identify physical abnormalities in the fetus.

After birth, an infant with Down syndrome has a physical appearance that suggests the diagnosis. A doctor confirms the diagnosis by testing the infant's blood for trisomy 21.

Treatment Options:

There is no cure for Down syndrome however, treatments can help reduce complications and allow a person with Down syndrome to live a happy, productive life.

Traditional Treatments:

Most traditional treatments are geared towards preventing and treating complications that are associated with Down syndrome. These include but are not limited to: congenital heart disease, acute leukemia, thyroid disorders, respiratory problems, digestive problems, Alzheimer's disease, pneumonia and other complications.

Physical, speech and occupational therapy may be recommended. Special education and training allows many individuals with Down syndrome to lead happy, productive lives.

Complementary and Alternative Therapies:

Complementary and alternative therapies center on providing a fuller life for Down syndrome patients. Nutritional supplements can help combat common deficiencies in individuals with Down syndrome and can even help alleviate some common complications.

Nutritional Supplementation:

• Aangamik DMG from FoodScience of Vermont promotes the utilization of oxygen. Take 50 mg 4 times daily.
• Acetyl-L-carnitine is a carnitine derivative produced naturally in the body. It is involved in carbohydrate and protein metabolism and in the transport of fats into the mitochondria. Take 100-500 mg daily.
• Essential fatty acids (found in flaxseed oil, primrose oil, salmon oil, and other sources) are needed for proper brain and cardiovascular function. Follow label directions.
• Free-form amino acid complex provides the needed protein and bolsters the immune system.
• Garlic is a natural antibiotic that helps the body to eliminate toxins and strengthens the cardiovascular system.
• Kelp supplies minerals that are helpful in establishing thyroid balance.
• Lecithin granules or capsules can aid brain function. Take 1tsp. 3 times daily or 1 capsule three times daily.
• Multivitamin and mineral complex is essential to help proved all the nutrients that are needed for proper immune function.
• Potassium helps transmit nerve impulses. Take 200 mg daily.
• Vitamin B complex with 100 mg of choline daily will prevent and/or treat memory loss and possibly increases learning capacity. It also protects against cardiovascular disease.
• Vitamin C with bioflavonoids enhances immune function and reduces cholesterol levels. Take 3,000 mg daily.
• Vitamin E boosts immune system and facilitates the body's absorption of lecithin. Take 400 IU daily. Warning: Do not take vitamin E supplements if you are on blood thinners without first consulting your doctor.
• 50 mg of zinc daily, plus 2 ­ 3 mg of copper daily are needed for proper brain function and a healthy immune system. The copper balances the zinc for a proper mineral balance.

Alternative Therapies:

Visit your local homeopathic practitioner for a constitutional remedy to help manage day-to-day life with Down syndrome.

General Recommendations:

• Be patient when feeding a child with Down syndrome, and be sure to provide a balanced diet.
• Hold and nurture your child as much as possible.
• Provide plenty of exercise, including deep-breathing exercises, daily.
• Provide environmental stimulation. Play music in your home, for example. Provide objects and toys that are safe to handle and that invite exploration. Talk to and interact with your child and involve him or her as much as possible in whatever you happen to be doing.
• Set realistic goals for your child, and remember the emotional needs of your other children.
• Use liquid or spray forms of supplements for a child with Down syndrome.

Warnings:

Do not take vitamin E supplements if you are on blood thinners without first consulting your doctor.