What is Down Syndrome?

What is Down syndrome?

Down syndrome is set of mental and physical symptoms that result from having an extra copy of Chromosome 21.

Normally, a fertilized egg has 23 pairs of chromosomes. In most people with Down syndrome, there is an extra copy of Chromosome 21 (also called trisomy 21 because there are three copies of this chromosome instead of two), which changes the body’s and brain’s normal development.

What are the signs and symptoms of Down syndrome?

Even though people with Down syndrome may have some physical and mental features in common, symptoms of Down syndrome can range from mild to severe. Usually, mental development and physical development are slower in people with Down syndrome than in those without the condition.

Mental retardation is a disability that causes limits on intellectual abilities and adaptive behaviors (conceptual, social, and practical skills people use to function in everyday lives). Most people with Down syndrome have IQs that fall in the mild to moderate range of mental retardation. They may have delayed language development and slow motor development.

Some common physical signs of Down syndrome include:

• * Flat face with an upward slant to the eye, short neck, and abnormally shaped ears
• * Deep crease in the palm of the hand
• * White spots on the iris of the eye
• * Poor muscle tone, loose ligaments
• * Small hands and feet

There are a variety of other health conditions that are often seen in people who have Down syndrome, including:

• * Congenital heart disease
• * Hearing problems
• * Intestinal problems, such as blocked small bowel or esophagus
• * Celiac disease
• * Eye problems, such as cataracts
• * Thyroid dysfunctions
• * Skeletal problems
• * Dementia—similar to Alzheimer’s

What is the treatment for Down syndrome?

Down syndrome is not a condition that can be cured. However, early intervention can help many people with Down syndrome live productive lives well into adulthood.

Children with Down syndrome can often benefit from speech therapy, occupational therapy, and exercises for gross and fine motor skills. They might also be helped by special education and attention at school. Many children can integrate well into regular classes at school.

Who is at risk for Down syndrome?

The chance of having a baby with Down syndrome increases as a woman gets older—from about 1 in 1,250 for a woman who gets pregnant at age 25, to about 1 in 100 for a woman who gets pregnant at age 40. But, most babies with Down syndrome are born to women under age 35 because more younger women have babies.

Because the chances of having a baby with Down syndrome increase with the age of the mother, many health care providers recommend that women over age 35 have prenatal testing for the condition. Testing the baby before it is born to see if he or she is likely to have Down syndrome allows parents and families to prepare for the baby’s special needs.

Parents who have already have a baby with Down syndrome or who have abnormalities in their own chromosome 21 are also at higher risk for having a baby with Down syndrome.

Once the baby is born, a blood test can confirm whether the baby has Down syndrome.

Institute of Child Health and Human Development

What is Fragile X Syndrome?

What is Fragile X syndrome?

Fragile X syndrome is the most common form of inherited mental retardation.

Fragile X happens when there is a change, or mutation, in a single gene called the Fragile X Mental Retardation 1 (FMR1) gene. This gene normally makes a protein the body needs for the brain to develop. But when there is a change in this gene, the body makes only a little bit or none of the protein, which can cause the symptoms of Fragile X.

Fragile X is inherited, which means it is passed down from parents to children. Parents can have children with Fragile X even if the parents do not have Fragile X themselves. The changes in the gene can become more serious when passed from parent to child.

Some people may only have a small change in their FMR1 gene (called a premutation) and may not show any signs of Fragile X. Other people may have bigger changes in the gene, called a full mutation, that cause the symptoms of Fragile X syndrome.

What are the signs and symptoms of Fragile X syndrome?

Not everyone with Fragile X has the same signs and symptoms, but they do have some things in common. Symptoms are often milder in girls than in boys. Here are some common signs of Fragile X:

• * Intelligence and learning – Many people with Fragile X have intellectual disabilities. These problems can range from mild learning disabilities to more severe mental retardation.
• * Physical – Teens and adults with Fragile X may have long ears, faces, and jaws. Many people with Fragile X may also have loose, flexible joints. They may have flat feet and be able to extend joints like the thumb, knee, and elbow further than normal.
• * Social and Emotional – Most children with Fragile X have some behavior challenges. They may be afraid or anxious in new situations. Many children, especially boys, have trouble paying attention or may be aggressive. Girls may be shy around new people.
• * Speech and Language – Most boys with Fragile X have some problems with speech and language. They may have trouble speaking clearly, or may stutter, or leave out parts of their words. They may also have problems understanding "clues" when talking to other people, such as understanding the speaker’s tone of voice or that person’s body language. Girls usually do not have severe problems with speech or language.
• * Sensory – Many children with Fragile X are bothered by certain sensations, such as bright light, loud noises, or the way something feels. Some do not like to be touched, or have trouble making eye contact with other people.

What are the treatments for Fragile X syndrome?

There is no cure for Fragile X, but there are ways to help with the symptoms.

People with Fragile X can get help to reduce or eliminate some of the learning, physical, social and emotional, speech and language, and sensory problems common in Fragile X. The sooner those with Fragile X get help, the more they can learn and the better their outcomes.

Institute of Child Health and Human Development.

What is Klinefelter Syndrome?

What is Klinefelter syndrome?

Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. Instead of having the usual XY chromosome pattern that most males have, these men have an XXY pattern.

Klinefelter syndrome is named after Dr. Henry Klinefelter, who first described a group of symptoms found in some men with the extra X chromosome. Even though all men with Klinefelter syndrome have the extra X chromosome, not every XXY male has all of those symptoms.

Because not every male with an XXY pattern has all the symptoms of Klinefelter syndrome, it is common to use the term XXY male to describe these men, or XXY condition to describe the symptoms.

Scientists believe the XXY condition is one of the most common chromosome abnormalities in humans. About one of every 500 males has an extra X chromosome, but many don’t have any symptoms.

What are the symptoms of the XXY condition?

Not all males with the condition have the same symptoms or to the same degree. Symptoms depend on how many XXY cells a man has, how much testosterone is in his body, and his age when the condition is diagnosed.

The XXY condition can affect three main areas of development:

Physical development: As babies, many XXY males have weak muscles and reduced strength. They may sit up, crawl, and walk later than other infants. After about age four, XXY males tend to be taller and may have less muscle control and coordination than other boys their age.

As XXY males enter puberty, they often don’t make as much testosterone as other boys. This can lead to a taller, less muscular body, less facial and body hair, and broader hips than other boys. As teens, XXY males may have larger breasts, weaker bones, and a lower energy level than other boys.

By adulthood, XXY males look similar to males without the condition, although they are often taller. They are also more likely than other men to have certain health problems, such as autoimmune disorders, breast cancer, vein diseases, osteoporosis, and tooth decay.

XXY males can have normal sex lives, but they usually make little or no sperm. Between 95 percent and 99 percent of XXY males are infertile because their bodies don’t make a lot of sperm.

Language development: As boys, between 25 percent and 85 percent of XXY males have some kind of language problem, such as learning to talk late, trouble using language to express thoughts and needs, problems reading, and trouble processing what they hear.

As adults, XXY males may have a harder time doing work that involves reading and writing, but most hold jobs and have successful careers.

Social development: As babies, XXY males tend to be quiet and undemanding. As they get older, they are usually quieter, less self-confident, less active, and more helpful and obedient than other boys.

As teens, XXY males tend to be quiet and shy. They may struggle in school and sports, meaning they may have more trouble "fitting in" with other kids.

However, as adults, XXY males live lives similar to men without the condition; they have friends, families, and normal social relationships.

What are the treatments for the XXY condition?

The XXY chromosome pattern can not be changed. But, there are a variety of ways to treat the symptoms of the XXY condition.

• * Educational treatments – As children, many XXY males qualify for special services to help them in school. Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into small steps.
• * Therapeutic options – A variety of therapists, such as physical, speech, occupational, behavioral, mental health, and family therapists, can often help reduce or eliminate some of the symptoms of the XXY condition, such as poor muscle tone, speech or language problems, or low self-confidence.
• * Medical treatments – Testosterone replacement therapy (TRT) can greatly help XXY males get their testosterone levels into normal range. Having a more normal testosterone level can help develop bigger muscles, deepen the voice, and grow facial and body hair. TRT often starts when a boy reaches puberty. Some XXY males can also benefit from fertility treatment to help them father children.

One of the most important factors for all types of treatment is starting it as early in life as possible.

Institute of Child Health and Human Development

What is McCune-Albright syndrome?

What is McCune-Albright syndrome?

McCune-Albright syndrome is a disease that affects the bones, skin, and endocrine (hormone) system. It results from a change (or mutation) in a gene that occurs by chance in the womb. Because it occurs by chance, it is not inherited and passed down from one generation to the next.

What are the symptoms of McCune-Albright syndrome?

People with McCune-Albright syndrome may have symptoms related to bones, the endocrine system, or skin. The symptoms can range from mild to severe.

Bone symptoms

• * Those with McCune-Albright syndrome often have polyostotic fibrous dysplasia (pronounced pa-lee-oh-STOT-ik FIE-bruss diss-PLAY-jsha), which occurs when normal bone is replaced by softer, fibrous tissue. When this happens in weight-bearing bones, such as the leg bones, it can cause limping, deformity, and fractures.
• * People with McCune-Albright syndrome often have this dysplasia condition in the bones of the skull and upper jaw, so these bones grow unevenly. There is no known hormonal or medical treatment for controlling this aspect of disease, although surgery can help correct some fractures and deformities.

Endocrine system symptoms

• * Precocious, or very early, puberty – Girls with McCune-Albright syndrome begin to show signs of puberty much younger than normal. Menstrual bleeding before two years of age is the first symptom of McCune-Albright syndrome for most female patients. Boys with the condition may show signs of puberty early, but these signs are less common than in girls.
• * Thyroid function – The thyroid is a small gland in the neck that affects the metabolism. About half of patients with McCune-Albright syndrome have problems with their thyroid glands, such as enlargement or masses (called nodules or cysts). Drug therapy can sometimes improve thyroid function.
• * Growth hormone – Some patients have too much pituitary growth hormone, which causes coarse facial features, larger hands and feet, and arthritis. Treatments include surgery and medication.
• * Cushing’s syndrome – This is a rare problem for McCune-Albright syndrome patients. Symptoms include obesity of the face and body, weight gain, skin fragility, and stopping growth in childhood. Cushing’s syndrome is treated by removing the affected glands or with medicine.

Skin symptoms

• * McCune-Albright syndrome can cause patches of increased or darker skin coloring. These areas are called café-au-lait spots because, in children with light complexions, these spots are the color of coffee with milk. In darker skinned children, the spots might be hard to see.
• * Most children have these spots from birth and the spots rarely grow. There are usually not any medical problems caused by these skin changes.

What are the treatments for McCune-Albright syndrome?

There is no cure for McCune-Albright syndrome. Drug treatments may help reduce or alleviate some of the symptoms, and surgery can help repair some of the bone problems.

Institute of Child Health and Human Development.

Menkes Syndrome

What is Menkes syndrome?

Menkes syndrome is a genetic disorder that impacts how well the body stores and distributes copper.

Menkes is caused by a mutation in the ATP7A gene that results in poor distribution of copper through the body. Copper builds up in some tissues, such as the small intestine and kidneys, while areas like the brain and liver don’t get enough copper.

Menkes syndrome is an X-linked recessive disorder, meaning that the mutated ATP7A gene is on the X chromosome and the condition is usually inherited. Males are affected by Menkes more often than females. About one-third of Menkes cases result from a spontaneous mutation in the gene, meaning that it occurs without warning and is not inherited.

Occipital horn syndrome is a less severe from of Menkes syndrome that begins in early to middle childhood.

What are the symptoms of Menkes syndrome?

Symptoms of Menkes, which appear during infancy, include normal development for 2 to 3 months, followed by a period of severe developmental delay and a loss of developmental skills.

Other symptoms may include:

• * Sparse, kinky, coarse hair
• * Failure to thrive
• * Deterioration of the nervous system
• * Weak muscle tone and sagging facial features
• * Seizures
• * Lower than normal body temperature
• * Weakened bones that can result in fractures
• * Pudgy, rosy cheeks

The prognosis for people with Menkes syndrome is poor, and most children with the disorder die within the first few years of life.

What is the treatment for Menkes syndrome?

The most common treatment for Menkes is copper injection therapy, but the studies of the treatment show mixed results. In general, the earlier the copper therapy is received, the better the results. Also, people with ATP7A mutations that don’t completely stop the copper transport in the body respond better to treatment than those with mutations causing absolutely no activity.

In addition to copper therapy, physical and occupational therapy can help maximize developmental potential, and nutritionists can recommend the best diet.

For more information about treatments for Menkes syndrome, talk to your health care provider.

Institute of Child Health and Human Development.

What is Prader-Willi Syndrome?

What is Prader-Willi Syndrome?

Prader-Willi syndrome is the most common genetic cause of life-threatening obesity in children.

People with Prader-Willi syndrome have a problem in their hypothalamus, a part of the brain that normally controls feelings of fullness or hunger. As a result, they never feel full and have a constant urge to eat that they cannot control.

Most cases of Prader-Willi syndrome result from a spontaneous genetic error in genes on chromosome 15 that occurs at conception. In very rare cases, the mutation is inherited.

What are the symptoms of Prader-Willi syndrome?

There are generally two stages of symptoms for people with Prader-Willi syndrome:

Stage 1 - As newborns, babies with Prader-Willi can have low muscle tone, which can affect their ability to suck properly. As a result, babies may need special feeding techniques to help them eat, and infants may have problems gaining weight. As these babies grow older, their strength and muscle tone usually get better. They meet motor milestones, but are usually slower in doing so.

Stage 2 - Between the ages of 1 and 6 years old, the disorder changes to one of constant hunger and food seeking. Most people with Prader-Willi syndrome have an insatiable appetite, meaning they never feel full. In fact, their brains are telling them they are starving. They may have trouble regulating their own eating and may need external restrictions on food, including locked kitchen and food storage areas.

This problem is made worse because people with Prader-Willi syndrome use fewer calories than those without the syndrome because they have less muscle mass. The combination of eating massive amounts of food and not burning enough calories can lead to life-threatening obesity if the diet is not kept under strict control.

There are other symptoms that may affect people with Prader-Willi, including:

• * Behavioral problems, usually during transitions and unanticipated changes, such as stubbornness or temper tantrums
• * Delayed motor skills and speech due to low muscle tone
• * Cognitive problems, ranging from near normal intelligence to mild mental retardation; learning disabilities are common
• * Repetitive thoughts and verbalizations
• * Collecting and hoarding of possessions
• * Picking at skin
• * Low sex hormone levels

Prader-Willi syndrome is considered a spectrum disorder, meaning not all symptoms will occur in everyone affected and the symptoms may range from mild to severe.

People with Prader-Willi often have some mental strengths as well, such as skills in jigsaw puzzles. If obesity is prevented, people with the syndrome can live a normal lifespan.

What are the treatments for Prader-Willi syndrome?

Prader-Willi syndrome cannot be cured. But, early intervention can help people build skills for adapting to the disorder. Early diagnosis can also help parents learn about the condition and prepare for future challenges. A health care provider can do a blood test to check for Prader-Willi syndrome.

Exercise and physical activity can help control weight and help with motor skills. Speech therapy may be needed to help with oral skills.

Human growth hormone has been found to be helpful in treating Prader-Willi syndrome. It can help to increase height, decrease body fat, and increase muscle mass. However, no medications have yet been found to control appetite in those with Prader-Willi.

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What is Turner Syndrome

What is Turner Syndrome

Turner syndrome is a disorder caused by a partially or completely missing X chromosome. It is a condition that only affects females.

Most people have 46 chromosomes in each cell – 23 from their mother and 23 from their father. The 23rd pair of chromosomes is called the sex chromosomes – X and Y – because they determine whether a person is male or female. Most females have XX in most of their cells and most males have XY in most of their cells.

Females with Turner syndrome are missing all or part of one of their X chromosomes.

What are the symptoms of Turner syndrome?

People with Turner syndrome can have a wide variety of symptoms. Some people may have more severe problems, and others may have mild symptoms. Turner syndrome may affect many areas, such as:

• * Appearance – Features may include short neck, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward.
• * Stature – Children with Turner grow more slowly than other kids and without treatment tend to be very short as adults.
• * Puberty/Reproduction – Most individuals with Turner syndrome lose ovarian function in early childhood and do not start puberty at a normal age. These women usually cannot become pregnant naturally.
• * Cardiovascular – Some individuals with Turner syndrome have structural problems with their hearts or major blood vessels. For this reason, everyone with Turner syndrome needs a thorough cardiologic evaluation at the time of diagnosis. High blood pressure also affects about 20 percent of girls and 40 percent of adults with Turner syndrome.
• * Kidney – Some people with Turner have kidneys that appear to be structurally abnormal, but their kidney function is usually normal.
• * Osteoporosis – Women with Turner syndrome who do not get adequate estrogen often get osteoporosis, which can cause loss of height, and increased bone fractures.
• * Diabetes – People with Turner syndrome are at higher risk for Type II diabetes.
• * Thyroid – Many people with Turner have thyroid problems, usually hypothyroidism, or an under-active thyroid.
• * Cognitive – Even though people with Turner syndrome have normal intelligence, some have problems with specific visual-spatial coordination tasks (such as mentally rotating objects in space) and may have trouble learning math (geometry and arithmetic).

What are the treatments for Turner syndrome?

Although there is no cure for Turner syndrome, there are some treatments that can help minimize the symptoms.

• * Human growth hormone (hGH) given in early childhood can often increase adult height by a few inches.
• * Estrogen replacement therapy (ERT) can help start up secondary sexual development that normally begins at puberty for girls without Turner (such as breast development or developing wider hips). Health care providers may prescribe ERT to girls who haven’t started menstruating by age 15.
• * Assistive reproductive therapies, such as egg donation, may help some women with Turner get pregnant.

Institute of Child Health and Human Development.

Morning Breath Is A Transient Thing

Morning Breath Is A Transient Thing

It would be tough to find a person who has never suffered from morning breath. We wake up in the morning feeling as though our mouths have been immobile all night long. Indeed, they probably have been. The oral cavity is either parchment dry, from breathing through the mouth (worse if you snore), or glued together from a lack of free flowing saliva. We force our lips to move: the first word is a croak.

Morning breath is actually a consequence of naturally decreased saliva production: the body produces less saliva while we sleep. Since saliva is a potent force against the oral bacteria that produce bad breath, a decrease in saliva allows those bacteria to proliferate during the night - and proliferation of those bacteria means production of volatile sulfur compounds (VSC), which smell really bad and are the main component of bad breath.

Fortunately, morning breath is a transient thing - once we are up and around, and have brushed and rinsed, the higher daytime flow of saliva resumes and all is well in the mouth (unless there is a chronic problem with VSC-producing bacteria). For most of us, a regular program of oral hygiene is all that's needed: brush and floss regularly, and clean the tongue, especially if you notice a white or yellowish coating on it in the morning. Morning breath should be easily vanquished.

There are a few things that make morning breath worse: coffee, alcohol, smoking, snacking during the night, poor oral hygiene, and sinus congestion, to name a few. In addition, many drugs cause a dry mouth, and this effect is accentuated when saliva flow is naturally decreased. These things affect morning breath for different reasons. Some decrease saliva flow; some directly support the proliferation of VSC-producing bacteria by providing nutrients. What's important is that we know they make things worse - avoid them if possible.

If your morning breath bothers you so much that you want to do something significant about it, try stepping up your oral care first. Are you brushing your teeth and rinsing your mouth out first thing in the morning? Are you cleaning your tongue? If these measures seem inadequate, use a good oral rinse that kills or removes VSC-producing bacteria on the tongue. Perhaps you want fresh breath before you even get out of bed - a difficult order to fill, but there are products on the market that claim to stop morning breath from happening at all. Of course, you'd add these into your routine in the evening, before going to sleep.

R. Drysdale

Sinus Drainage Bad Breath

Sinus Drainage Bad Breath

Have you heard of sinus drainage bad breath? This condition implies that the bad breath is coming from the sinuses; however, that is usually not the case. When draining sinuses contribute to halitosis, the odor is coming from the back of the mouth, just as it does with regular halitosis.

When there is a problem in a sinus bad breath results for a very simple reason: drainage from the sinus runs down the back of the throat and onto the very back of the tongue. The drainage is a rich source of protein because it contains dead sinus cells that have sloughed off, blood cells, pus cells, and other molecules produced by the body. These are the exact things that oral bacteria like to use for nutrients. With a steady food supply from sinus drainage bad breath increases with the increase of bacteria.

The bacteria that are particularly known for producing sinus drainage bad breath, and other bad breath as well, are anaerobes, meaning that they live in an oxygen free environment. They cannot withstand significant amounts of oxygen - the back of the tongue is a perfect place for them to hide. They get down in the little grooves between tongue papillae and taste buds, and just wait for food to come to them. When it does, they take what they need and produce foul smelling volatile sulfur compounds as an accidental byproduct of metabolism. Unfortunately for the person with an inflamed sinus bad breath is the final result.

The good thing is that treating sinus drainage bad breath is really no different from treating any other type of bad breath. Many people suffer from post nasal drip, which essentially produces the same type of sinus bad breath. Bad breath products that work for regular bad breath will work just as well for these situations. Of course, a product that works by decreasing the population of anaerobes living at the back of the tongue will be the most effective. Look for oral care products that are antibacterial in some way - they may physically remove tongue bacteria or they may kill them. Either should help decrease the odor on your breath and allow you to focus on alleviating the discomfort of the sinus problem, instead of worrying about your sinus drainage bad breath.


R. Drysdale

Oral Health and Calcium

Oral Health and Calcium

What is calcium?

Calcium is a mineral your body needs to help build strong bones and healthy teeth. Low-fat and fat-free milk and dairy products are especially good sources of calcium.

How does calcium help keep mouths healthy?

* Even before baby teeth and adult teeth come in, they need calcium. And after teeth come in, they continue to take in calcium so they can develop fully.
* Calcium makes gums healthy. Getting enough calcium as a young adult may help prevent gum disease later in life.
* Calcium makes jawbones strong and healthy too. Jawbones need to be strong - they hold the teeth in place!

How else can I help my child have a healthy mouth?

Besides teaching your children to drink milk and eat other calcium-rich foods, there are a number of ways you can help keep your child's mouth health. For example:

* Make sure your children brush with fluoride toothpaste. Fluoride protects teeth from decay and helps heal early decay.
* Ask your child’s dental care provider or health care provider if there is fluoride in your town or city’s drinking water. If there is not, ask about fluoride tablets or drops for your child.
* Ask your child’s dental care provider about proper brushing and flossing techniques and other ways your tween and teen can make sure teeth stay healthy.


Institute of Child Health and Human Development