Mosaic Down syndrome

Related Terms

Behavioral therapy, chromosomal disorder, chromosome 21, cognitive disabilities, dementia, Down's syndrome, Downs syndrome, heart defects, inherited disorder, intervention programs, leukemia, physical therapy, occupational therapy, speech-language therapy, translocation.

Background

Down syndrome, also called Down's syndrome or Downs syndrome, is a genetic disorder that is characterized by distinct physical characteristics and varying degrees of cognitive dysfunction that range from mild to severe. Cognitive disabilities occur when a person has difficulty thinking, processing, and storing information in order to solve problems. Some individuals may live independently as adults, while others may require long-term care and support.
Even though Down syndrome is a genetic condition, it is not usually inherited from parents. Most cases occur spontaneously before or during conception. One of the biggest risk factors of Down syndrome is the mother's age when she conceives. Females who are 35 years and older are most likely to have abnormal eggs that may lead to Down syndrome. However, because most women have children before this age, it is not considered the leading cause of the disorder.
Researchers estimate that about 6,000 babies are born with Down syndrome each year in the United States. Gender, race, and ethnicity do not appear to play a role in the development of the disorder.
In 1929, many children born with Down syndrome did not live to be older than 10 years of age. This is because patients with Down syndrome have an increased risk of developing heart defects, leukemia, infectious diseases, and other potentially life-threatening conditions.
Today, however, patients can expect to live to be 50 years of age or older, depending on the severity of related health problems. Although there is no cure for Down syndrome, early treatment has been shown to increase patients' long-term prognoses. Early intervention and proper care has also been shown to help Down syndrome patients develop into independent adults.

Signs and symptoms

General: The severity and specific type of symptoms vary significantly among patients. Patients are generally born with distinct physical characteristics, as well as mental disabilities that range from mild to severe.
Facial characteristics: Individuals with Down syndrome have distinct facial characteristics. Some of the most common traits include a protruding tongue, small head, flattened facial features, eyes that slant upward, small and low-set ears, irregularly shaped mouth, narrow and high palate, pushed in nasal bridge, and irregular or crooked teeth (that often develop later than normal). Patients may also develop Brushfield's spots, which are buildups of tissue in the colored part of the eyes that do not affect vision.
Other physical characteristics: Infants with Down syndrome may be average size shortly after birth. However, they typically grow more slowly and remain smaller than other children who are of similar age. Other common symptoms include poor muscle tone, short fingers, broad and short hands that have single creases in the palms, and excessively flexible joints.
Intellectual symptoms: Children with Down syndrome also have some degree of intellectual disabilities, which range from mild to severe. Researchers typically use intelligence quotient (IQ) tests to measure the severity of a person's intellectual disabilities. Individuals who have 85-115 IQs are considered to have average intelligence.
Patients with mild intellectual disabilities have IQs of 52-69. From birth to age six, patients are able to develop normal social and communication skills, but motor coordination is slightly impaired. By late adolescence, patients are able to learn until about a sixth-grade level. They are generally able to learn appropriate social skills. Adults with mild intellectual disabilities are usually able to work and support themselves, although some patients may need help during times of social or financial stress.
Patients with moderate intellectual disabilities have IQs of 36-51. Children younger than six years old are able to talk or communicate with others, but social awareness is generally poor. Motor coordination is typically fair. Adolescents are able to learn some occupational and social skills. For instance, they may be able to learn how to travel alone in familiar places. Adults may be able to support themselves with a job. They usually require guidance and assistance during mild social or financial stress.
Patients with severe intellectual disabilities have IQs of 20-35. Young children can say a few words, but their speech is limited. Motor coordination is generally poor. Adolescents can usually talk or communicate with others. They are able to learn simple habits. Adults typically require lifelong assistance and guidance with daily activities.
Patients with profound intellectual disabilities have IQs of 19 or lower. Children younger than six years old have very little motor coordination and may require nursing care. Adolescents typically have limited motor and communication skills. Adults usually require lifelong nursing care.
Behavioral characteristics: Common behavioral characteristics associated with Down syndrome include cheerfulness, spontaneity, gentleness, patience, and tolerance. Some patients may have anxious or stubborn personalities.

Diagnosis

General: In the past, prenatal screening for Down syndrome was offered to older mothers who were at high risk of having a baby with the disorder. Today, the American College of Obstetricians and Gynecologists recommends offering Down syndrome screening as part of prenatal testing for pregnant women of all ages. If screening tests indicate that a mother is at high risk of having a baby with Down syndrome, prenatal diagnostic tests may be performed. However, because diagnostic tests may lead to complications during pregnancy, pregnant mothers should discuss the potential risks and benefits of screening before making any decisions.
Screening tests during pregnancy:
There are many tests that can be performed during pregnancy to determine if a mother has a high risk of having a baby with Down syndrome. The most effective screening includes an ultrasound and blood tests, which are performed between the 11th and 14th week of pregnancy. These tests can help determine if a mother is at risk of having a baby with Down syndrome, spina bifida (a condition that occurs when the tissues surrounding the spinal cord do not develop properly), or other types of chromosomal disorders. These tests only indicate if there is a risk of Down syndrome. They cannot diagnose the disorder. Some women may be at risk of having babies with Down syndrome but give birth to healthy babies.
Ultrasound: During an ultrasound, a wand-like device is rubbed against the mother's stomach. Ultrasounds use high-energy sound waves (ultrasound) that bounce off internal tissues or organs to produce images of the fetus. During the ultrasound, a doctor performs a test, called the nuchal translucency screening test. The doctor measures the clear (translucent) space in the tissue at the back of the fetus' neck. The fetus may be at risk of having Down syndrome if the clear space is larger than normal. This is because fluid often collects inside this tissue if abnormalities are present.
Blood tests: Blood tests are also performed in combination with an ultrasound. Blood tests measure the amount of pregnancy-associated plasma protein-A (PAPP-A) and human chorionic gonadotropin (HCG). If the mother has low levels of PAPP-A and HCG, it may suggest a problem with the baby.
If these tests indicate that there is a risk of Down syndrome, diagnostic tests, such as amniocentesis or chorionic villus sampling, may be recommended. These diagnostic tests can definitively determine if the fetus has Down syndrome.
Diagnostic tests during pregnancy:
Individuals at high risk of having of having babies with Down syndrome may choose to undergo diagnostic tests during pregnancy. Each of these tests can diagnose Down syndrome with 98-99% accuracy. However, there are serious risks associated with these tests.
Amniocentesis: During amniocentesis, a long, thin needle is inserted into the abdominal wall to the uterus and a small amount of amniotic fluid is removed from the sac surrounding the fetus. The fluid is then analyzed for an extra chromosome 21. This test is performed after 15 weeks of gestation. The risk of miscarriage ranges from one out of 200-400 patients. Some patients may experience minor complications, such as cramping, leaking fluid, or irritation where the needle was inserted.
Chorionic villus sampling (CVS): During chorionic villus sampling (CVS), a small piece of tissue (chorionic villi) is removed from the placenta during early pregnancy. Depending on where the placenta is located, CVS can be performed through the cervix (transcervical) or through the abdomen (transabdominal). The tissue sample is then analyzed for the presence of an extra chromosome 21. This procedure may be performed between the ninth and 14th week of gestation. The risks of infection or fetal damage are slightly higher than the risks of amniocentesis. Miscarriage occurs in about two percent of women who undergo this procedure.
Percutaneous umbilical blood sampling (PUBS): Percutaneous umbilical blood sampling (PUBS) may also be performed. During the procedure, a small sample of blood is taken from a vein in the umbilical cord. The sample is then analyzed for the presence of an extra chromosome 21. This test is usually performed after 18 weeks of gestation. This test poses a greater risk of miscarriage than both amniocentesis and CVS. It is usually only performed when a prompt diagnosis is needed.
Diagnostic tests for newborns:
After birth, Down syndrome may be diagnosed based on the infant's physical appearance. In order to confirm a diagnosis, a doctor usually orders a chromosomal karyotype test, which provides a picture of the person's chromosomes. A sample of the patient's blood is taken and analyzed for the presence of an extra chromosome 21.

Complications

General: Patients should regularly visit their doctors in order to treat and help prevent complications of Down syndrome. Patients typically live to be 50 years of age or older, depending on the severity of health-related problems.
Heart defects: About 50% of Down syndrome patients are born with heart defects, which range from mild to life-threatening. Some infants may need to undergo surgery to correct structural problems of the heart. Some of the most common heart abnormalities include endocardial cushion defect, ventricular septal defect, secundum arterial septal defect, tetralogy of Fallot, and isolated patent arteriosus. These defects occur when parts of the heart, such as the walls, chambers, or valves, do not develop properly.
Leukemia: Down syndrome patients are born with impaired cellular immunity. Therefore, children with Down syndrome have an increased risk of developing a type of cancer called leukemia. Researchers estimate that children and adolescents with Down are 10-30% more likely to develop leukemia than the general population.
Infectious diseases: Patients with Down syndrome generally have abnormal immune systems, making them more susceptible to infections and diseases. Pneumonia is one of the most common infections to affect Down syndrome patients.
Dementia: Adults with Down syndrome are more likely to develop dementia than people who do not have the syndrome. Dementia symptoms often develop before the age of 40. Dementia is the loss of mental ability that is so severe that it interferes with daily functioning.
Other problems: Down syndrome has also been associated with many other health problems, including gastrointestinal blockage, thyroid problems, hearing loss, dental problems, and poor vision.

Treatment

General: Currently, there is no cure for Down syndrome. However, many treatments and therapies may help patients cope with the disorder. With proper therapy, some patients are able to live independently once they become adults, while others may need lifelong support and/or residential care. Adults with profound intellectual disabilities usually require lifelong nursing care.
Down syndrome patients typically visit several doctors, including a gastroenterologist, cardiologist, developmental pediatrician, and other specialists to monitor their conditions and treat complications of Down syndrome throughout life.
Occupational therapy: Patients may benefit from occupational therapy. During sessions, a therapist helps the child learn skills to help him/her perform basic daily tasks, such as feeding, dressing, and communicating with others. Some patients work with therapists who specialize in disorders and disabilities, including Down syndrome. Parents and caregivers can ask their children's pediatricians for recommended therapists.
Education: Patients with Down syndrome must have access to education that is tailored to their specific strengths and weaknesses. According to the Individuals with Disabilities Education Act, all children with disabilities, including Down syndrome, must receive free and appropriate education. According to the law, members of the patient's school should consult with the patient's parents or caregivers to design and write an individualized education plan. Once all parties agree with the plan, the educational program should be started. The school faculty should document the child's progress in order to ensure that the child's needs are being met.
Educational programs vary among patients. In general, most experts believe that children with disabilities, including Down syndrome, should be educated alongside their non-disabled peers. The idea is that non-disabled students will help the patient learn appropriate behavioral, social, and language skills. Therefore, some Down syndrome patients are educated in mainstream classrooms. Other Down syndrome patients attend public schools but take special education classes. Others attend specialized schools that are designed to teach children with disabilities.
Early intervention programs: Patients with Down syndrome usually meet traditional developmental milestones. However, it typically takes them longer than most children to develop these skills. For instance, it may take a child with Down syndrome twice as long to crawl or walk than a healthy child. Therefore, caregivers should ask the doctors of Down syndrome patients about early intervention programs. These specialized programs expose Down syndrome children to appropriate sensory, motor, and cognitive activities. These programs typically involve special educators and therapists who help babies and young children develop their language, social, motor, and self-help skills.
Behavioral therapy: Behavioral therapy may also be beneficial. Several different types of behavioral therapy are available to help Down syndrome patients improve their communication and social skills, as well as their learning abilities and adaptive behaviors. Evidence suggests that behavioral therapy is most effective if it is started early in life, when the patient is three to four years old or younger.
Physical therapy: Physical therapy may help patients improve their physical strength and motor coordination. For example, since babies with Down syndrome usually have muscle tone, a physical therapist may be able to help babies learn how to roll over, sit up, and walk. A variety of techniques, including exercises, stretches, traction, electrical stimulation, and massage, are used during physical therapy sessions.
Speech-language therapy: Some patients with Down syndrome may benefit from speech-language therapy because individuals often develop communication skills slower than normal. During speech-language therapy, a qualified speech-language professional (SLP) works with the patient on a one-to-one basis, in a small group, or directly in a classroom, to help the patient improve speech, language, and communication skills. Programs are tailored to the patient's individual needs.
Speech pathologists use a variety of exercises to improve the patient's communication skills. Exercises typically start off simple and become more complex as therapy continues. For instance, the therapist may ask the patient to name objects, tell stories, or explain the purpose of an object.
On average, patients receive five or more hours of therapy per week for three months to several years. Doctors typically recommend that treatment is started early to ensure the best possible prognosis for the child.

Integrative therapies

Note: Currently, there is scant evidence available on the safety and effectiveness of integrative therapies for the prevention or treatment of Down syndrome. In addition to the few integrative therapies that have been studied for symptoms of Down syndrome, the therapies listed below have been researched for related conditions, such as dementia and cognitive performance. All integrative therapies should be used only under the supervision of a qualified healthcare provider, and should not be used in replacement of other proven therapies or preventive measures.
Strong scientific evidence:
Ginkgo: Ginkgo biloba has been used medicinally for thousands of years. The scientific literature overall does suggest that ginkgo may benefit people with dementia, and may be as helpful as acetylcholinesterase inhibitor drugs such as donepezil (Aricept?). Well-designed research comparing ginkgo to prescription drug therapies is needed. Avoid if allergic or hypersensitive to members of the Ginkgoaceaefamily. If allergic to mango rind, sumac, poison ivy or oak or cashews, then allergy to ginkgo is possible. Avoid with blood-thinners (like aspirin or warfarin (Coumadin?)) due to an increased risk of bleeding. Ginkgo should be stopped two weeks before surgical procedures. Ginkgo seeds are dangerous and should be avoided. Skin irritation and itching may also occur due to ginkgo allergies. Ginkgo should not be used in supplemental doses if pregnant or breastfeeding.
Sage: Sage has long been suggested as a possible therapy for memory and cognitive improvement. Several trials provide evidence for the use of sage for this indication. Additional study is needed to confirm these findings and determine the best dose. Avoid if allergic or hypersensitive to sage species, their constituents, or to members of the Lamiaceae (mint) family. Use cautiously with hypertension (high blood pressure). Use sage essential oil or tincture cautiously in patients with epilepsy. Avoid if pregnant or breastfeeding.
Good scientific evidence:
Aromatherapy: Aromatherapy is the use of essential oils from plants for healing purposes. There is suggestive preliminary evidence that aromatherapy using essential oil of lemon balm (Melissa officinalis) may effectively reduce severe agitation in dementia when applied to the face and arms twice daily. Other research reports that steam inhalation of lavender aromatherapy may have similar effects. However, there is a conflicting study that reports no benefits of aromatherapy using lemon balm, Lavender officinalis, sweet orange (Citrus aurantium), or tea tree oil (Malaleuca alternifolia). Overall, the evidence does suggest potential benefits. It is not clear if this is because of anxiety-reducing qualities of these therapies. Additional study is necessary. There is also preliminary research suggesting that aromatherapy used with massage may help to calm people with dementias who are agitated. However, it is not clear if this approach is any better than massage used alone. Essential oils should be administered in a carrier oil to avoid toxicity. Avoid with a history of allergic dermatitis. Use cautiously if driving/operating heavy machinery. Avoid consuming essential oils. Avoid direct contact of undiluted oils with mucous membranes. Use cautiously if pregnant.
Bacopa: Bacopa monnieri leaf extract is called brahmi in Ayurvedic medicine (medicine practiced in India) and is widely used in India for enhancing memory, pain relief, and treating epilepsy. Although bacopa is traditionally used in Ayurvedic medicine to enhance cognition, high-quality clinical trials are lacking. Two methodologically weak studies found some evidence that bacopa improves cognition. However, more high-quality and independent research is needed before bacopa can be recommended for enhancing brain function in adults or children. Bacopa may interact with medications such as calcium channel blockers (used for arrhythmias and high blood pressure), thyroid medications, phenytoin (Dilantin?), and drugs metabolized by the liver. Use cautiously with drugs or herbs that are metabolized by cytochrome P450 enzymes, thyroid drugs, calcium blocking drugs, and sedatives. Avoid if allergic/hypersensitive to Bacopa monnieri, its constituents or any member of the Scrophulariaceae (figwort) family. Avoid if pregnant or breastfeeding.
Ginkgo: Multiple clinical trials have evaluated ginkgo for a syndrome called cerebral insufficiency. This condition, more commonly diagnosed in Europe than the United States, may include poor concentration, confusion, absent-mindedness, decreased physical performance, fatigue, headache, dizziness, depression, and anxiety. It is believed that cerebral insufficiency is caused by decreased blood flow to the brain due to clogged blood vessels. Some studies report benefits of ginkgo in patients with these symptoms, but most have been poorly designed without reliable results. Better studies are needed before a conclusion can be made. Avoid if allergic or hypersensitive to members of the Ginkgoaceaefamily. If allergic to mango rind, sumac, poison ivy or oak or cashews, then allergy to ginkgo is possible. Avoid with blood-thinners (like aspirin or warfarin (Coumadin?)) due to an increased risk of bleeding. Ginkgo should be stopped two weeks before surgical procedures. Ginkgo seeds are dangerous and should be avoided. Skin irritation and itching may also occur due to ginkgo allergies. Ginkgo should not be used in supplemental doses if pregnant or breastfeeding.
Music therapy: Music is used to influence physical, emotional, cognitive and social well-being and improve quality of life for healthy people as well as those who are disabled or ill. In people with mental disorders, music therapy has been found to reduce aggressive or agitated behavior, improve mood, and improve cooperation with daily tasks such as bathing. Music therapy may also be beneficial for dementia-associated neuropsychiatric symptoms, such as depression and aggressive behavior. Music therapy may help maintain mental performance in elderly adults undergoing surgical procedures, reduce postoperative confusion and delirium, and increase energy levels. Music therapy is generally known to be safe.
Zinc: Zinc formulations have been used since ancient Egyptian times to treat a variety of medical conditions. In several studies, zinc supplements seemed to counteract underactive thyroid (a condition called hypothyroidism) and slightly reduce the number of infections in children with Down's syndrome. However, zinc did not seem to improve weak immune systems. Additional human research is needed before a firm conclusion can be made.
Zinc is generally considered safe when taken at the recommended dosages. Avoid zinc chloride because studies have not evaluated its safety or effectiveness. While zinc appears safe during pregnancy in amounts lower than the established upper intake level, caution should be used because studies cannot rule out the possibility of harm to the fetus.
Unclear or conflicting scientific evidence:
5-HTP: 5-HTP is the precursor for serotonin. Serotonin is the brain chemical associated with sleep, mood, movement, feeding, and nervousness. Studies have evaluated the effects of 5-HTP on motor, social, intellectual, and language development in children with Down's syndrome. However, these are early studies that have provided unclear results. Additional research is needed to make a conclusion in this area.
5-HTP should be avoided in infants with Down syndrome because there is a risk of seizures. Avoid if allergic to 5-HTP. Avoid with eosinophilia or mitochondrial encephalomyopathy. Avoid if taking monoamine oxidase inhibitors (MAOIs). Use cautiously with gastrointestinal disorders. Use cautiously with kidney disorders. Use cautiously if taking antidepressants (including tricyclic antidepressants, selective serotonin reuptake inhibitors, nefazodone, trazodone, venlafaxine, mirtazapine, or bupropion), 5-HTP receptor agonists, carbidopa, phenobarbital, pindolol, reserpine, tramadol, or zolpidem. Avoid if pregnant or breastfeeding.
Acupressure, shiatsu: Acupressure may decrease verbal and physical agitated behavior in dementia patients. Further study is needed before a conclusion can be made. With proper training, acupressure appears to be safe if self-administered or administered by an experienced therapist. Serious long-term complications have not been reported, according to scientific data. Hand nerve injury and herpes zoster ("shingles") cases have been reported after shiatsu massage. Forceful acupressure may cause bruising.
Acupuncture: Acupuncture has been reported to help improve memory and cognitive performance in the elderly. However, there is currently insufficient available evidence for the use of acupuncture in cognitive disorders and communication disorders. There is also insufficient evidence to recommend the use of acupuncture in the treatment of vascular dementia. More research is necessary. Needles must be sterile in order to avoid disease transmission. Avoid with valvular heart disease, infections, bleeding disorders or with drugs that increase the risk of bleeding (anticoagulants), medical conditions of unknown origin, and neurological disorders. Avoid on areas that have received radiation therapy and during pregnancy. Use cautiously with pulmonary disease (like asthma or emphysema). Use cautiously in elderly or medically compromised patients, diabetics, or with a history of seizures. Avoid electroacupuncture with arrhythmia (irregular heartbeat) or in patients with pacemakers.
Arginine: There is not enough information available to make a strong recommendation about the use of the amino acid arginine in senile dementia. Avoid if allergic to arginine, or with a history of stroke, or liver or kidney disease. Avoid if pregnant or breastfeeding. Use caution if taking blood-thinning drugs (like warfarin or Coumadin?) and blood pressure drugs or herbs or supplements with similar effects. Check blood potassium levels. L-arginine may worsen symptoms of sickle cell disease. Caution is advised in patients taking prescription drugs to control sugar levels.
Ayurveda: The herb Brahmi (Bacopa monnieri) is used in many Ayurvedic preparations for a variety of ailments. There is evidence from well-designed studies that it may improve memory and cognitive function in adults. Another study suggests that the herbal preparation Maharishi Amrit Kalash (MAK) -4 may enhance attention capacity or alertness, and thus reverse some of the detrimental cognitive effects of aging. Further research is needed to confirm these results. Ayurvedic herbs should be used cautiously because they are potent and some constituents can be potentially toxic if taken in large amounts or for a long period of time. Some herbs imported from India have been reported to contain high levels of toxic metals. Ayurvedic herbs may interact with other herbs, foods, and drugs. A qualified healthcare professional should be consulted before use. Use guggul cautiously with peptic ulcer disease. Patients should avoid sour food, alcohol, and heavy exercise with use of this herb. Mahayograj guggul should not be taken for long periods of time. Pippali (Piper longum) should be taken with milk and avoided with asthma. Avoid sweet flag, and avoid amlaki (Emblica officinalis) at bedtime. Avoid Terminalia chebula (harda) if pregnant. Avoid Ayurveda with traumatic injuries, acute pain, advanced disease stages and medical conditions that require surgery.
Bacopa: Bacopa monnieri leaf extract is called brahmi in Ayurvedic medicine and is widely used in India for enhancing memory, pain relief, and treating epilepsy. However, additional study is needed before a firm conclusion can be drawn. Bacopa may interact with medications such as calcium channel blockers (used for arrhythmias and high blood pressure), thyroid medications, phenytoin (Dilantin?), and drugs metabolized by the liver. Use cautiously with drugs or herbs that are metabolized by cytochrome P450 enzymes, thyroid drugs, calcium blocking drugs, and sedatives. Avoid if allergic/hypersensitive to Bacopa monnieri, its constituents, or any member of the Srcophulariaceae (figwort) family. Avoid if pregnant or breastfeeding.
Beta-carotene: Antioxidants such as beta-carotene may be helpful for increasing cognitive performance and memory. Long-term, but not short-term, beta-carotene supplementation appears to benefit cognition. Avoid if sensitive to beta-carotene, vitamin A, or any other ingredients in beta-carotene products.
Black tea: Several preliminary studies have examined the effects of caffeine, tea, or coffee use on short and long-term memory enhancement. It remains unclear if tea is beneficial for this use. Limited, low-quality research also reports that the use of black tea may improve mental performance/alertness and cognition. Black tea contains caffeine, which is a stimulant. Avoid if allergic or hypersensitive to caffeine or tannins. Skin rash and hives have been reported with caffeine ingestion. Use caution with diabetes. Use caution if pregnant. Heavy caffeine intake during pregnancy may increase the risk of SIDS (sudden infant death syndrome). Very high doses of caffeine have been linked with birth defects. Caffeine is transferred into breast milk. Caffeine ingestion by infants can lead to sleep disturbances/insomnia. Infants nursing from mothers consuming greater than 500 milligrams of caffeine daily have been reported to experience tremors and heart rhythm abnormalities. Tea consumption by infants has been linked to anemia, decreased iron metabolism, and irritability.
Boron: Preliminary human studies report better performance on tasks of eye-hand coordination, attention, perception, short-term memory, and long-term memory with the use of boron. Although boron has not been studied in AD, it may be beneficial in improving cognitive function. Avoid if allergic or sensitive to boron, boric acid, borax, citrate, aspartate, or glycinate. Avoid with a history of diabetes, seizure disorder, kidney disease, liver disease, depression, anxiety, high blood pressure, skin rash, anemia, asthma, or chronic obstructive pulmonary disease (COPD). Avoid with hormone-sensitive conditions like breast cancer or prostate cancer. Avoid if pregnant or breastfeeding.
Bupleurum: In early study, an herbal combination formula containing bupleurum has been used as a treatment for minimal brain damage in children. Additional research is needed as results are inconclusive. Avoid if allergic or hypersensitive to bupleurum, members of the Apiaceae or Umbelliferae (carrot) families, snakeroot, cow parsnip, or poison hemlock. Use cautiously if operating motor vehicles or hazardous machinery. Use cautiously with low blood pressure, diabetes, or edema. Use cautiously with a history of bleeding, hemostatic disorders, or drug-related hemostatic disorders. Use cautiously if taking blood thinners. Avoid if pregnant or breastfeeding.
Chromium: Early research suggests that chromium picolinate may help improve cognitive function in the elderly. Further study is needed in this area. Trivalent chromium appears to be safe because side effects are rare or uncommon. However, hexavalent chromium may be poisonous (toxic). Avoid if allergic to chromium, chromate, or leather. Use cautiously with diabetes, liver problems, weakened immune systems (such as HIV/AIDS patients or organ transplant recipients), depression, Parkinson's disease, heart disease, and stroke, and in patients who are taking medications for these conditions. Use cautiously if driving or operating machinery. Use cautiously if pregnant or breastfeeding.
Cranberry: Preliminary study results show that cranberry juice may increase overall memory enhancement. Further well-designed clinical trials are needed to confirm these results. It is best not to use sweetened cranberry juice or cranberry juice cocktail due to the high sugar content. The use of 100% cranberry juice products is recommended by healthcare providers. Avoid if allergic to cranberries, blueberries, or other plants of the Vaccinium species. Sweetened cranberry juice may affect blood sugar levels. Use cautiously with a history of kidney stones. Avoid more than the amount usually found in foods if pregnant or breastfeeding.
Creatine: Early studies show that creatine may improve memory in certain populations, such as vegetarians and the elderly. Further research is required before recommendations can be made. Avoid if allergic to creatine or with diuretics (like hydrochlorothiazide, furosemide (Lasix?)). Use caution in asthma, diabetes, gout, kidney, liver or muscle problems, stroke or with a history of these conditions. Avoid dehydration. Avoid if pregnant or breastfeeding.
DHEA: Dehydroepiandrosterone (DHEA) is an endogenous hormone (made in the human body) and secreted by the adrenal gland. DHEA serves as precursor to male and female sex hormones (androgens and estrogens). DHEA levels in the body begin to decrease after age 30 and may need to be taken as supplements. Preliminary evidence, from a controlled trial and a case series, gives conflicting results as to whether DHEA offers benefit to individuals with dementia. Well designed clinical trials, with appropriate endpoints are required before recommendations can be made. Avoid if allergic to DHEA. Avoid with a history of seizures. Use with caution in adrenal or thyroid disorders or anticoagulants, or drugs, herbs or supplements for diabetes, heart disease, seizure or stroke. Stop use two weeks before surgery/dental/diagnostic procedures with bleeding risk, and do not use immediately after these procedures. Avoid if pregnant or breastfeeding.
Gingko: There is preliminary research showing small improvements in memory and other brain functions with use of ginkgo in patients with age-associated memory impairment (AAMI), although some studies disagree. Overall, there is currently not enough clear evidence to recommend for or against ginkgo for this condition. It remains unclear if ginkgo is effective for memory enhancement in healthy patients. Further well-designed research is needed as existing study results conflict. Avoid if allergic or hypersensitive to members of the Ginkgoaceaefamily. If allergic to mango rind, sumac, poison ivy or oak or cashews, then allergy to ginkgo is possible. Avoid with blood-thinners (like aspirin or warfarin (Coumadin?)) due to an increased risk of bleeding. Ginkgo should be stopped two weeks before surgical procedures. Ginkgo seeds are dangerous and should be avoided. Skin irritation and itching may also occur due to ginkgo allergies. Ginkgo should not be used in supplemental doses if pregnant or breastfeeding.
Ginseng: Early small studies report that Fuyuan mixture, an herbal combination that contains ginseng, may improve symptoms of multi-infarct dementia. The effects of ginseng alone are not clear, and no firm conclusion can be drawn. In addition, the use of ginseng for mental performance has been assessed using standardized measurements of reaction time, concentration, learning, math, and logic. Benefits have been seen both in healthy young people and in older ill patients. Effects have also been reported for the combination use of ginseng with Ginkgo biloba. However, some negative results have also been reported. Therefore, although the sum total of available scientific evidence does suggest some effectiveness of short-term use of ginseng for mental performance, better research is necessary before a strong recommendation can be made. Avoid ginseng with known allergy to plants in the Araliaceae family. There has been a report of a serious life-threatening skin reaction, possibly caused by contaminants in ginseng formulations.
Gotu kola: Ayurveda regards gotu kola (Centella asiatica) as an important rejuvenating herb for nerve and brain cells, believed to be capable of increasing intelligence, longevity, and memory. Asiaticoside derivatives, including asiatic acid and asiaticoside, were shown to reduce hydrogen peroxide-induced cell death, decrease free radical concentrations, and inhibit beta amyloid cell death in vitro. Limited available clinical study investigated a combination product containing gotu kola on cognitive function in the elderly, but did not find any benefit. Additional study is needed to confirm these findings. Avoid if allergic to gotu kola, asiaticoside, asiatic acid, or madecassic acid. Avoid with a history of high cholesterol, cancer, or diabetes. Avoid if pregnant or breastfeeding.
Grapeseed: Grape seed oil is a popular (non scented) carrier oil used in aromatherapy. Although grape seed has been compared to lavender oil and thyme oil to reduce agitation in dementia patients, there is not enough scientific evidence to make a conclusion about its effectiveness. Avoid if allergic or hypersensitive to grapes or other grape compounds. Use cautiously if taking blood thinners such as warfarin, aspirin, non-steroidal anti-inflammatory drugs (NSAIDS), or anti-platelet agents. Use cautiously with bleeding disorders or if taking drugs that may increase the risk of bleeding. Use cautiously with drugs processed using the liver's cytochrome P450 enzyme system. Use cautiously with blood pressure disorders or if taking ACE inhibitors. Avoid with disorders that increase the risk of bleeding or with active bleeding disorders (stomach ulcers, bleeding into the brain, etc.). Avoid if pregnant or breastfeeding.
Green tea: Several preliminary studies have examined the effects of caffeine, tea, or coffee use on short and long-term memory and cognition. It remains unclear if tea is beneficial for this use. Limited, low-quality research reports that the use of green tea may improve cognition and mental performance and alertness. Green tea contains caffeine, which is a stimulant. Avoid if allergic or hypersensitive to caffeine or tannins. Use cautiously with diabetes or liver disease.
Guarana: Guarana is a native species of South America and has stimulating properties when taken by mouth. Guarana is also used to enhance athletic performance and to reduce fatigue. Guarana has not been shown to alter cognitive enhancement or arousal in preliminary studies. Caffeine found in guarana may improve simple reaction time, but may not improve immediate memory. Additional study is needed in this area. Avoid if allergic/hypersensitivite to guarana (Paullinia cupana), caffeine, tannins, or species of the Sapindaceae family. Avoid with hypertension, psychological or psychiatric disorders, liver impairment, and arrhythmias. Avoid with other stimulatory agents, especially ephedra. Use cautiously with breast disease, impaired kidney function, diabetes, pre-existing mitral valve prolapse, iron deficiency, gastric or duodenal ulcers, bleeding disorders, glaucoma or if at risk for osteoporosis. Use cautiously if undergoing electroconvulsive therapy (ECT). Avoid if pregnant or breastfeeding.
Guided imagery: The term guided imagery may be used to refer to a number of techniques, including metaphor, story telling, fantasy, game playing, dream interpretation, drawing, visualization, active imagination, or direct suggestion using imagery. Early research suggests that guided imagery of short duration may improve working memory. Further research is needed before a firm conclusion can be drawn. Guided imagery is usually intended to supplement medical care, not to replace it, and guided imagery should not be relied on as the sole therapy for a medical problem. Contact a qualified healthcare provider if mental or physical health is unstable. Never use guided imagery techniques while driving or doing any other activity that requires strict attention. Use cautiously with physical symptoms that can be brought about by stress, anxiety, or emotional upset because imagery may trigger these symptoms. In patients feeling unusually anxious while practicing guided imagery, or in patients with a history of trauma or abuse, a qualified health care provider should be consulted before practicing guided imagery.
Jasmine: Odors and memory improvement are considered to be somehow linked in the brain. Two clinical trials using weakly jasmine-scented rooms found that subjects did not have improved recall of a physical environment without the jasmine odor trigger but could remember a word list better when exposed to a jasmine trigger. More research is needed in this area. Use cautiously during pregnancy, based on traditional use. Use cautiously in patients allergic to jasmine, jasmine oil, or other fragrances. Use cautiously during lactation as jasmine flowers applied to the breasts have been used as a lactofuge. Avoid oral consumption of essential oils, including jasmine essential oil, as they are extremely potent and can be poisonous.
Jojoba: Jojoba oil is traditionally used as a carrier or massage oil. There is currently not enough available evidence to recommend for or against the use of jojoba oil for dementia. Avoid if allergic or hypersensitive to jojoba, its constituents, or members of the Simmondsiaceae family. Avoid oral consumption of jojoba products. Avoid if pregnant or breastfeeding.
Khat: Khat is a flowering evergreen plant that has been grown for use as a stimulant for centuries. Khat has been evaluated for its benefits for cognitive function; however, the results are mixed with some studies showing benefit and others showing negative effects. Additional study is needed to clarify these findings. When taken by mouth, it is unknown whether khat is physically addictive. However, it is linked to psychological dependence and is illegal in the United States. Avoid if allergic to the Celastraceae family (staff vine family). Use cautiously if taking amoxicillin, ampicillin or stimulants. Use cautiously with a history of high blood pressure, fast heartbeat (tachycardia), depression, or motor tics (Tourette's syndrome). Avoid with glaucoma or mental illness. Avoid driving or operating heavy machinery after using khat. Avoid holding khat in the cheek for a long time. Avoid if pregnant or breastfeeding.
Kundalini yoga: Kundalini yoga is one of many traditions of yoga that share common roots in ancient Indian philosophy. It is comprehensive in that it combines physical poses with breath control exercises, chanting (mantras), meditations, prayer, visualizations, and guided relaxation. Breathing exercises are an important part of Kundalini yoga. There is some evidence from studies with healthy volunteers that use of certain breathing techniques (such as breathing solely through one nostril or the other) may improve different aspects of cognitive function. More studies are needed to determine if these techniques can reliably be used to improve cognitive function and possibly aid in treating cognitive and nervous system disorders. Avoid exercises that involve stoppage of breath, with heart or lung problems, insomnia, poor memory, or concentration. Avoid certain inverted poses with disc disease of the spine, fragile or atherosclerotic neck arteries, risk for blood clots, extremely high or low blood pressure, glaucoma, detachment of the retina, ear problems, severe osteoporosis, or cervical spondylitis. Use cautiously with mental disorders as some techniques may cause an altered state of consciousness. Kundalini Yoga is considered safe and beneficial for use during pregnancy and lactation when practiced under the guidance of expert instruction. Lamaze techniques are based on yogic breathing. If started early in the pregnancy, it may be possible to master the ability of breathing to reduce stress and aid in labor. Teachers of yoga are generally not medically qualified and should not be regarded as sources of medical advice for management of clinical conditions.
Lavender: Small studies of patients with severe dementia in nursing homes have found that lavender aromatherapy or pinning a cloth to the patient with lavender oil on it may help to decrease agitated behavior. Although lavender is a sedative-type aroma, use during recess periods in a work environment after accumulation of fatigue seemed to prevent deterioration of cognitive performance in subsequent work sessions. Small trials investigating the effects of lavender aromatherapy on agitation and behavior in patients with dementia report conflicting results. Further well-designed studies are needed before a conclusion can be drawn. Avoid if allergic or hypersensitive to lavender. Avoid with history of seizures, bleeding disorders, eating disorders (anorexia, bulimia), or anemia (low levels of iron). Avoid if pregnant or breastfeeding.
L-Carnitine: Most of studies of L-carnitine and/or acetyl-L-carnitine related to dementia suffer from various weaknesses. Although preliminary evidence is promising, there is insufficient available evidence to recommend for or against this use. There are also a limited number of studies relevant to the use of carnitine for memory. Carnitine does not appear to have any effect on memory. Additional study is needed before a conclusion can be made. Avoid with known allergy or hypersensitivity to carnitine. Use cautiously with peripheral vascular disease, hypertension (high blood pressure), alcohol-induced liver cirrhosis, and diabetes. Use cautiously in low birth weight infants and individuals on hemodialysis. Use cautiously if taking anticoagulants (blood thinners), beta-blockers, or calcium channel blockers. Avoid if pregnant or breastfeeding.
Lemon balm: Limited data is available supporting the use of lemon balm as a treatment for agitation in dementia patients. Additional study is necessary before a conclusion can be drawn. Clinical data suggest that the use of standardized lemon balm (Melissa officinalis) extract has some effect on particular self-reported measures of mood and cognitive performance. More rigorous studies need to be conducted using patient-relevant outcomes to better assess the validity of these results as they apply to patient care. Based on available research, lemon balm taken by mouth has been reported to be relatively well tolerated when taken for up to eight weeks. Evidence for topical administration of lemon balm cream suggested minimal side effects for up to 10 days of application. Avoid if allergic or hypersensitive to lemon balm. Avoid with Grave's disease or thyroid hormone replacement therapy. Use cautiously in glaucoma because lemon balm may increase eye pressure. Use caution when operating heavy machinery. Lemon balm preparations may contain trace amounts of lead. Avoid if pregnant or breastfeeding.
Macrobiotic diet: Macrobiotics is a predominantly vegetarian, whole-foods diet that emphasizes whole grains (especially brown rice), vegetables, fruits, legumes, and seaweeds. The evidence is mixed as to whether or not a macrobiotic diet helps, hinders, or has no effect on cognitive function in children. There is a risk of nutrition deficiencies with use of an exclusive macrobiotic diet; however, this can be avoided with appropriate menu planning. Use cautiously with cancer or other medical conditions without expert planning or supplementation. Macrobiotic diets are not recommended in children or adolescents without professional guidance or appropriate supplementation, and are also not recommended in pregnant or lactating women due to potential deficiencies, unless properly supplemented.
Massage: Massage with or without essential oils has been used in patients with dementia in chronic care facilities to assess effects on behavior. There is compelling early evidence that aromatherapy with essential oils may reduce agitation in patients with dementia, although the effects of massage itself are not clear. Avoid with bleeding disorders, low platelet counts, or if on blood-thinning medications (such as heparin or warfarin/Coumadin?). Areas should not be massaged where there are fractures, weakened bones from osteoporosis or cancer, open/healing skin wounds, skin infections, recent surgery, or blood clots. Use cautiously with a history of physical abuse or if pregnant or breastfeeding. Massage should not be used as a substitute for more proven therapies for medical conditions. Massage should not cause pain to the client.
Meditation: Some forms of meditation may have positive effects on cognitive function. However, there is not enough clear evidence that any specific form of meditation can support or enhance cognitive function. Use cautiously with underlying mental illnesses. People with psychiatric disorders should consult with their primary mental healthcare professional(s) before starting a program of meditation, and should explore how meditation may or may not fit in with their current treatment plan. Avoid with risk of seizures. The practice of meditation should not delay the time to diagnosis or treatment with more proven techniques or therapies, and should not be used as the sole approach to illnesses.
Niacin: Dementia can be caused by severe niacin insufficiency, but it is unclear whether variation in intake of niacin in the usual diet is linked to cognitive decline. Further research is needed before a conclusion can be drawn. Avoid niacin/vitamin B3 if allergic to niacin or niacinamide. Avoid with a history of liver disease or dysfunction, irregular heartbeats (arrhythmia), heart disease, blood clotting, bleeding disorders, asthma, anxiety, panic attacks, thyroid disorders, stomach ulcers, gout or diabetes. Avoid if pregnant or breastfeeding.
Omega-3 fatty acids, fish oil, alpha-linolenic acid: Well-designed clinical trials are needed before omega-3 fatty acids can be recommended for the prevention of cognitive impairment or dementia. Avoid if allergic or hypersensitive to fish, omega-3 fatty acid products that come from fish, nuts, or linolenic acid or omega-3 fatty acid products that come from nuts. Avoid during active bleeding. Use cautiously with bleeding disorders, diabetes, low blood pressure or drugs, herbs or supplements that treat any such conditions. Use cautiously before surgery. The Environmental Protection Agency (EPA) recommends that intake be limited in pregnant/nursing women to a single 6-ounce meal per week, and in young children to less than 2 ounces per week. For farm-raised, imported, or marine fish, the U.S. Food and Drug Administration recommends that pregnant/nursing women and young children avoid eating types with higher levels of methylmercury and less than 12 ounces per week of other fish types. Women who might become pregnant are advised to eat 7 ounces or less per week of fish with higher levels of methylmercury or up to 14 ounces per week of fish types with about 0.5 parts per million (such as marlin, orange roughy, red snapper, or fresh tuna).
Physical therapy: The goal of physical therapy is to improve mobility, restore function, reduce pain, and prevent further injury. A variety of techniques, including exercises, stretches, traction, electrical stimulation, and massage, are used during physical therapy sessions. Based on early study, orofacial physical therapy may be beneficial in treating oral motor function, facial expression, the occurrence of malocclusions (misalignment of the teeth), and enlarged tonsils in Down's syndrome children. In addition to physical therapy, treadmills have also been used to help reduce the delay in walking onset in infants. Sensory integrative therapy, vestibular stimulation (stimulation of the body's balance system), and neurodevelopmental therapy are other techniques studied. Due to the various methods studied across trials, comparison is difficult and a firm conclusion cannot be reached at this time.
Not all physical therapy programs are suited for everyone, and patients should discuss their medical history with their qualified healthcare professionals before beginning any treatments. Based on the available literature, physical therapy appears generally safe when practiced by a qualified physical therapist. However, physical therapy may aggravate some pre-existing conditions. Persistent pain and fractures of unknown origin have been reported. Physical therapy may increase the duration of pain or cause limitation of motion. Pain and anxiety may occur during the rehabilitation of patients with burns. Both morning stiffness and bone erosion have been reported in the physical therapy literature, although causality is unclear. Erectile dysfunction has also been reported. All therapies during pregnancy and breastfeeding should be discussed with a licensed obstetrician/gynecologist before initiation.
Policosanol: The effects of policosanol supplementation on reactivity and related brain activity have been examined. Although there is early compelling evidence, further research is necessary before a clear conclusion can be made. Avoid if allergic or hypersensitive to policosanol. Use cautiously if taking aspirin or blood pressure medications. Use cautiously with high blood pressure. Use cautiously if pregnant or breastfeeding.
Polypodium leucotomos extract and anapsos: Extracts of the polypodium fern have been used for many health conditions. It is commonly found in South America and Europe. The South American species Polypodium leucotomos L. is also known as "calaguala." Extracts of this species are called "anapsos." Limited scientific information is available about the effectiveness of polypodium in the treatment of dementia. Avoid if allergic or hypersensitive to ferns from the family Polypodiaceae. Use cautiously with heart disease or with use of blood pressure drugs. Avoid operating any heavy machinery when taking polypodium. Avoid if pregnant or breastfeeding.
Psychotherapy: Psychotherapy is an interactive process between a person and a qualified mental health professional (psychiatrist, psychologist, clinical social worker, licensed counselor, or other trained practitioner). Psychotherapy may improve language proficiency in children, and individual therapy may be more successful than group therapy. Further research is needed in this area. Psychotherapy is not always sufficient to resolve mental or emotional conditions. Psychiatric medication is sometimes needed. The reluctance to seek and use appropriate medication may contribute to worsening of symptoms or increased risk for poor outcomes. In order to be successful, psychotherapy requires considerable personal motivation and investment in the process. This includes consistent attendance and attention to treatment recommendations provided by the practitioner. Not all therapists are sufficiently qualified to work with all problems. The client or patient should seek referrals from trusted sources and should also inquire of the practitioner's training and background before committing to work with a particular therapist. Some forms of psychotherapy evoke strong emotional feelings and expression. This can be disturbing for people with serious mental illness or some medical conditions. Psychotherapy may help with post-partum depression, but is not a substitute for medication, which may be needed in severe cases.
Reiki: Early research suggests that Reiki therapy may improve behavioral and memory problems in patients with mild cognitive disorders. However, additional studies are needed to confirm these findings. Reiki is not recommended as the sole treatment approach for potentially serious medical conditions, and should not delay the time it takes to consult with a healthcare professional or receive established therapies. Use cautiously with psychiatric illnesses.
Rhodiola: Early human study suggests that rhodiola may benefit learning, memory, and mental performance. Well-designed studies are needed before a recommendation may be made. Avoid if allergic or sensitive to Rhodiola. Use cautiously in people with diabetes, cardiovascular disease, or neurological or psychiatric disorders. Rhodiola is not recommended for use during pregnancy or breastfeeding.
Rhubarb: Preliminary study has investigated rhubarb along with other herbs in the treatment of age-associated memory impairment (AAMI). Studies of rhubarb alone are needed to discern rhubarb's effect on aging and memory. Avoid if allergic/hypersensitive to rhubarb, its constituents, or related plants from the Polygonaceae family. Avoid using rhubarb for more than two weeks because it may induce tolerance in the colon, melanosis coli, laxative dependence, pathological alterations to the colonic smooth muscles, and substantial loss of electrolytes. Avoid with atony, colitis, Crohn's disease, dehydration with electrolyte depletion, diarrhea, hemorrhoids, insufficient liver function, intestinal obstruction or ileus, irritable bowel syndrome, menstruation, pre-eclampsia, renal disorders, ulcerative colitis, and urinary problems. Avoid handling rhubarb leaves, as they may cause contact dermatitis. Avoid rhubarb in children under age 12 due to water depletion. Use cautiously with bleeding disorders, cardiac conditions, coagulation therapy, constipation, history of kidney stones, or thin or brittle bones. Use cautiously if taking anti-psychotic drugs or oral drugs, herbs or supplements (including calcium, iron, and zinc). Avoid if pregnant or breastfeeding.
Riboflavin: Adequate nutrient supplementation with riboflavin (vitamin B2) may be required for the maintenance of adequate cognitive function. Treatment with B-vitamins including riboflavin has been reported to improve scores of depression and cognitive function in patients taking tricyclic antidepressants. This may be related to tricyclic-caused depletion of riboflavin levels. Avoid if allergic or hypersensitive to riboflavin. Since the amount of riboflavin a human can absorb is limited, riboflavin is generally considered safe. Riboflavin is generally regarded as safe during pregnancy and breastfeeding. The U.S. Recommended Daily Allowance (RDA) for riboflavin in pregnant women is higher than for non-pregnant women, and is 1.4 milligrams daily (1.6 milligrams for breastfeeding women).
Soy: It is unclear if soy isoflavone supplementation in postmenopausal women may improve cognitive function. Results from studies are mixed. Avoid if allergic to soy. Breathing problems and rash may occur in sensitive people. Soy, as a part of the regular diet, is traditionally considered to be safe during pregnancy and breastfeeding, but there is limited scientific data. The effects of high doses of soy or soy isoflavones in humans are not clear, and therefore are not recommended. There has been a case report of vitamin D deficiency rickets in an infant nursed with soybean milk (not specifically designed for infants). People who experience intestinal irritation (colitis) from cow's milk may experience intestinal damage or diarrhea from soy. It is not known if soy or soy isoflavones share the same side effects as estrogens, like increased risk of blood clots. The use of soy is often discouraged in patients with hormone-sensitive cancers, such as breast, ovarian, or uterine cancer. Other hormone-sensitive conditions such as endometriosis may also be worsened. Patients taking blood-thinning drugs like warfarin should check with a doctor and pharmacist before taking soy.
Traditional Chinese medicine: Traditional Chinese medicine (TCM) herbal combinations have been used for the treatment of dementia and reportedly improve cognitive function and activities of daily living. More studies of better design are needed before recommendations can be made. Acupuncture is generally considered safe. Avoid with valvular heart disease, infections, bleeding disorders or with drugs that increase the risk of bleeding (anticoagulants), medical conditions of unknown origin, and neurologic disorders. Avoid on areas that have received radiation therapy and during pregnancy. Use cautiously with pulmonary disease (like asthma or emphysema). Use cautiously in elderly or medically compromised patients, diabetics or with history of seizures. Avoid electroacupuncture with arrhythmia (irregular heartbeat) or in patients with pacemakers.
Turmeric: Curcumin has been shown to have antioxidant and anti-inflammatory properties and to reduce beta-amyloid and plaque burden in lab studies. However, there is currently not enough evidence to suggest the use of curcumin for cognitive function. Avoid if allergic or hypersensitive to turmeric, curcumin, yellow food colorings, or plants belonging to the Zingiberaceae (ginger) family. Use cautiously with a history of bleeding disorders, immune system deficiencies, liver disease, diabetes, hypoglycemia, or gallstones. Use cautiously with blood-thinners, such as warfarin (like Coumadin?), and blood sugar-altering medications. Avoid in medicinal amounts if pregnant or breastfeeding. Turmeric should be stopped prior to scheduled surgery.
Vitamin E: Vitamin E has been proposed and evaluated for the prevention or slowing of dementia, based on antioxidant properties and findings of low vitamin E levels in some individuals with dementia. Overall, the evidence remains inconclusive in this area.
Vitamin E may cause bleeding, especially in sensitive individuals such as those taking medications for bleeding disorders (including warfarin or Coumadin?). Avoid if allergic or hypersensitive to vitamin E. Avoid with retinitis pigmentosa (loss of peripheral vision). Use cautiously with bleeding disorders or if taking blood thinners. Avoid use above the recommended daily level in pregnant and breastfeeding women.
Yoga: There is limited human study of yoga for memory improvement and mental retardation in children. Better studies are needed before a conclusion can be made. Yoga is generally considered to be safe in healthy individuals when practiced appropriately. Avoid some inverted poses with disc disease of the spine, fragile or atherosclerotic neck arteries, risk for blood clots, extremely high or low blood pressure, glaucoma, detachment of the retina, ear problems, severe osteoporosis, or cervical spondylitis. Certain yoga breathing techniques should be avoided in people with heart or lung disease. Use cautiously with a history of psychotic disorders. Yoga techniques are believed to be safe during pregnancy and breastfeeding when practiced under the guidance of expert instruction (the popular Lamaze techniques are based on yogic breathing). However, poses that put pressure on the uterus, such as abdominal twists, should be avoided in pregnancy.
Fair negative scientific evidence:
Bitter orange: Bitter orange has been used in aromatherapy, although it does not appear to reduce combative, resistive behaviors in individuals with dementia. Currently, evidence supporting the use of bitter orange for dementia and behavioral challenges is lacking.
DHEA: Studies of the effects of dehydroepiandrosterone (DHEA) on memory have produced complex and inconsistent results. Additional study is warranted in this area.
Folate: Limited available study did not show a protective effect of folic acid on heart anomalies among infants with Down's syndrome.
Gingko: The results of limited available study investigating the effect of Ginkgo biloba on post-prandial mental performance are unclear. Ginkgo may benefit some but not all endpoints. Further clinical trials are required before a conclusion can be made.
Traditional or theoretical uses that lack sufficient evidence:
Taurine: Taurine, or 2-aminoethanesulfonic acid, was originally discovered in ox (Bos taurus) bile and was named after taurus, or bull. In the diet, taurine is considered to be a non-essential amino acid, although it is not a true amino acid. Taurine is found in high abundance in the tissues of many animals, especially sea animals, and in much lower concentrations in plants, fungi, and some bacteria. It has been suggested, but not proved, that taurine may help treat symptoms of Down's syndrome. However, until studies have been performed in this area, it remains unknown exactly what effects taurine may have on the condition.
Taurine is an amino acid-like compound, and it is unlikely that there are allergies related to this constituent. However, allergies may occur from multi-ingredient products that contain taurine. Use cautiously with increased levels of very low-density lipoprotein (VLDL) cholesterol, high triglycerides, potential for mania, or with a history of low blood pressure, bleeding disorders, or epilepsy. Use cautiously if taking lipid-lowering medications, blood pressure-lowering agents, drugs that affect blood sugar, or blood-thinners (anticoagulants or anti-platelet agents). Do not consume with energy drinks containing taurine, caffeine, glucuronolactone, or B vitamins. Do not consume taurine before drinking alcohol or exercising. Use cautiously if pregnant or breastfeeding; taurine is a natural component of breast milk.

Prevention

There is currently no known method of prevention of Down syndrome. However, individuals who are at high risk of having a baby with Down syndrome may undergo genetic testing to determine if they are carriers of translocated chromosome 21. Prenatal screening and diagnostic tests may also be performed to determine if a mother's fetus has Down syndrome.
Genetic counselors can help patients understand the risks of having a child with Down syndrome. He/she can also explain the different types of genetic tests, including their potential risks and benefits. Genetic counselors can also help patients understand the results of their tests.
Patients diagnosed with Down syndrome should undergo regular checkups with their doctors, including their cardiologists, gastroenterologists, and primary care physicians. This helps reduce the risk of developing complications.

Author information

This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

Bibliography

Dykens EM. Psychiatric and behavioral disorders in persons with Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):272-8.
Esbensen AJ, Seltzer MM, Greenberg JS.Factors predicting mortality in midlife adults with and without Down syndrome living with family. J Intellect Disabil Res. 2007 Dec;51(Pt 12):1039-50.
Fidler DJ, Nadel L. Education and children with Down syndrome: Neuroscience, development, and intervention. Ment Retard Dev Disabil Res Rev. 2007;13(3):262-71.
Horbelt CV. Down syndrome: a review of common physical and oral characteristics. Gen Dent. 2007 Sep-Oct;55(5):399-402.
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Sherman SL, Allen EG, Bean LH, et al. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7.

Causes

General: Although Down syndrome is considered a genetic disease, most cases are not inherited. Instead, the disorder is usually caused by a spontaneous mutation, or mistake, during the development of the egg, sperm, or embryo.
In healthy individuals, cells contain 23 pairs of chromosomes. These chromosomes contain the building blocks of life called DNA (deoxyribonucleic acid). Each pair of chromosomes contains one chromosome from each parent. A patient with Down syndrome has an extra 21st chromosome. There are three possible ways this can happen.
Trisomy 21: More than 90% of Down syndrome cases are caused by trisomy 21. This happens when a sperm or egg cell does not divide properly. As a result, the child is born with three copies of chromosome 21, instead of just two.
Translocation Down syndrome: In about four percent of cases, Down syndrome develops when a copy of chromosome 21 attaches, or translocates, onto another chromosome. This can happen before or during conception. Individuals with translocation have two normal copies of chromosomes 21 and a third copy that is translocated.
This is the only type of Down syndrome that can be inherited, or passed down from parents to their children. When it is inherited, a mother or father does not have extra chromosomes. Instead, the chromosomes are arranged abnormally. However, the parent's sperm or egg cells will contain the translocated chromosome as well as a normal chromosome 21. When these two chromosomes (one normal and one translocated) combine with the other parent's egg or sperm to form an embryo, a total of three chromosome 21 are present.
Although a parent can pass the condition onto his/her children, the parent does not experience symptoms of Down syndrome. Only about 50% of translocation Down syndrome cases are inherited. The other half occur spontaneously.
Mosaic Down syndrome: In rare cases, only some of a person's cells have extra copies of chromosome 21. This condition, called mosaic Down syndrome, is usually the result of abnormal cell division after fertilization. Patients with mosaic Down syndrome tend to have higher intellectual quotients (IQs) than people with other types of Down syndrome.

Risk factors

Maternal age: As women age, there is a greater chance that the cells in her eggs will not divide properly. This increases the risk of having a child with Down syndrome. Women who are 35 years old have a one out of 385 chance that their children will have Down syndrome. Forty-year-old women have a one out of 106 chance of giving birth to children with Down syndrome. By age 45, the risk increases to one out of 30.
Mothers of Down syndrome children: In general, a woman who has one child with Down syndrome has a one percent chance of having another child with the condition.
Genetic carriers: Carriers of rearranged chromosome 21 may pass translocation Down syndrome onto their children. The risk of passing the translocation onto a child depends on the parent's gender. Fathers who carry the translocated chromosome have a three percent risk of having children with Down syndrome. Mothers who carry the translocated chromosome have a 12% chance of having children with Down syndrome.

Tips for caregivers

Caregivers should find a team of trusted healthcare professionals. Patients with Down syndrome typically visit several specialized healthcare providers and professionals in order to properly treat and prevent complications associated with the disorder.
Caregivers may find support from other families who are caring for a patient with Down syndrome. Many communities have local support groups for parents, family members, and caregivers of patients.
Caregivers should educate themselves about Down syndrome. The more a caregiver knows about the condition, the better he/she can help the patient. Being educated on the disorder may also help the caregiver learn how to communicate better with the patient.
Parents of children with Down syndrome should stay in close contact with their children's teachers. This helps ensure that the child is receiving appropriate education that is tailored to his/her specific needs. Parents are also encouraged to find out how they can support their children's learning needs at home.