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Developmental Disabilities

Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. Or the problem can be both physical and mental, such as Down syndrome. The problems are usually life-long, and can affect everyday living.

There are many causes of developmental disabilities, including:

Often there is no cure, but treatment can help the symptoms. Treatments include physical, speech, and occupational therapy. Special education classes and psychological counseling can also help.

NIH: National Institute of Child Health and Human Development

Genetic Disorders

Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.

Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.

You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.

There are three types of genetic disorders:

Genetic tests on blood and other tissue can identify genetic disorders.

NIH: National Library of Medicine

Birth Defects

What are birth defects?

A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect.

A birth defect may affect how the body looks, works, or both. Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. Others, like heart disease, are found using special tests. Birth defects can range from mild to severe. How a birth defect affects a child's life depends mostly on which organ or body part is involved and how severe the defect is.

What causes birth defects?

For some birth defects, researchers know the cause. But for many birth defects, the exact cause is unknown. Researchers think that most birth defects are caused by a complex mix of factors, which can include:

Who is at risk of having a baby with birth defects?

Certain factors may increase the chances of having a baby with a birth defect, such as:

How are birth defects diagnosed?

Health care providers can diagnose some birth defects during pregnancy, using prenatal testing. That's why it important to get regular prenatal care.

Other birth defects may not be found until after the baby is born. Providers may find them through newborn screening. Some defects, such as club foot, are obvious right away. Other times, the health care provider may not discover a defect until later in life, when the child has symptoms.

What are the treatments for birth defects?

Children with birth defects often need special care and treatments. Because the symptoms and problems caused by birth defects vary, the treatments also vary. Possible treatments may include surgery, medicines, assistive devices, physical therapy, and speech therapy.

Often, children with birth defects need a variety of services and may need to see several specialists. The primary health care provider can coordinate the special care that the child needs.

Can birth defects be prevented?

Not all birth defects can be prevented. But there are things you can do before and during pregnancy to increase your chance of having a healthy baby:

Centers for Disease Control and Prevention

Celiac Disease

What is celiac disease?

Celiac disease is a chronic (long-term) digestive and immune disorder that damages your small intestine. The damage may prevent your body from absorbing vitamins, minerals, and other nutrients from the food you eat. This can lead to malnutrition and other serious health problems

Celiac disease is triggered by eating foods that contain gluten. Gluten is a protein found in wheat, barley, rye, and other grains. It may also be in other products like vitamins and supplements, hair and skin products, toothpastes, and lip balm.

Celiac disease is different from gluten sensitivity. Both involve problems with gluten and can cause some of the same symptoms, such as abdominal (belly) pain and fatigue. But gluten sensitivity does not damage the small intestine like celiac disease does.

Wheat allergy, a type of food allergy, is also different. With both celiac disease and wheat allergy, your immune system is reacting to wheat. But with wheat allergy, you can have some different symptoms, such as itchy eyes or trouble breathing. And a wheat allergy will not cause long-term damage to the small intestine.

What causes celiac disease?

The exact cause of celiac disease is not known. Research suggests that celiac disease only happens in people who have certain genes and eat food that contains gluten. Researchers are studying other factors that may play a role in causing the disease.

Who is more likely to develop celiac disease?

Celiac disease is more common if you:

What are the symptoms of celiac disease?

The symptoms of celiac disease can be different from person to person. Sometimes the symptoms may come and go. Some people may not notice any symptoms.

Some of the possible symptoms affect your digestive system. Digestive symptoms are more common in children than in adults. The digestive symptoms include:

Some people with celiac disease have symptoms that affect other parts of the body, such as:

What other problems can celiac disease cause?

Over time, celiac disease can cause other health problems, especially if it is not treated. These problems can include:

How is celiac disease diagnosed?

If you have symptoms of celiac disease, your health care provider will look for signs that you might have celiac disease. To do this, your provider will get your medical and family history and do a physical exam.

If your provider thinks that you could have celiac disease, you will have some tests. Providers most often use blood tests and biopsies of the small intestine to diagnose celiac disease. The biopsy would be done during an upper gastrointestinal (GI) endoscopy. For this procedure, your provider uses an endoscope (a flexible tube with a camera) to see the lining of your esophagus, stomach, and small intestine. It also allows your provider to take a sample of tissue for a biopsy.

What are the treatments for celiac disease?

The treatment for celiac disease is following a gluten-free diet for the rest of your life. Sticking with a gluten-free diet will treat or prevent many of the symptoms and other health problems caused by celiac disease. In most cases, it can also heal damage in the small intestine and prevent more damage.

Your provider may refer you to a registered dietician (a nutrition expert) who can help you learn how to eat a healthy diet without gluten. You will also need to avoid all hidden sources of gluten, such as certain supplements, cosmetics, toothpaste, etc. Reading product labels can sometimes help you avoid gluten. If a label doesn't tell you what is in a product, check with the company that makes the product for an ingredients list. Don't just assume that a product is gluten-free if it doesn't mention it.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases

Congenital Heart Defects

What are congenital heart defects?

Congenital heart defects (CHDs) are problems with the structure of the heart. "Congenital" means that that the problems are present at birth. These defects happen when a baby's heart doesn't develop normally during pregnancy. Congenital heart defects are the most common type of birth defect.

Congenital heart defects can change the way the heart pumps blood. They may make blood flow too slowly, go the wrong way, or block it completely.

There are many types of congenital heart defects. They can happen in one or more parts of the heart. The most common types are:

Congenital heart defects can range from very mild problems that never need treatment to life-threatening problems at birth. The most serious congenital heart defects are called critical congenital heart disease. Babies with these defects usually need surgery in the first year of life. But the symptoms of milder heart defects may not show up until childhood or adulthood.

What causes congenital heart defects?

Researchers often don't know what causes congenital heart defects. They do know that changes in a baby's genes sometimes cause a heart defect. The changed genes may come from the parents, or the changes may happen during pregnancy.

Who is more likely to have a baby with a congenital heart defect?

Several things may increase the chance that your baby has a congenital heart defect, such as:

What are the symptoms of congenital heart defects?

Congenital heart defects don't cause pain. The signs and symptoms are different, depending on the type and number of defects and how serious they are.

Common signs and symptoms of congenital heart defects include:

What other problems do congenital heart defects cause?

Congenital heart defects don't always cause other problems. If they do, which problems you have would depend on the type and number of defects and how serious the defects are.

Children with congenital heart defects are more likely to:

People with congenital heart defects may develop other health conditions, including:

How are congenital heart defects diagnosed?What are the treatments for congenital heart defects?

Treatment depends on the type of congenital heart defect and how serious it is. Possible treatments include:

All children and adults who have congenital heart defects need regular follow-up care from a cardiologist (a doctor who specializes in heart diseases) throughout their life, even if their defect was repaired.

Some people may need several heart surgeries or catheterizations over the years. They may also need to take medicines to help their hearts work as well as possible.

NIH: National Heart, Lung, and Blood Institute

Heart Diseases

What is heart disease?

Heart disease is a general term that includes many types of heart problems. It's also called cardiovascular disease, which means heart and blood vessel disease.

Heart disease is the leading cause of death in the United States, but there are ways to prevent and manage many types of heart disease.

What are the types of heart disease?

There are many different types of heart disease. Some you may be born with, called congenital heart disease. Other types develop during your lifetime.

Coronary artery disease (also called coronary heart disease) is the most common type of heart disease. It happens slowly over time when a sticky substance called plaque builds up in the arteries that supply your heart muscle with blood. The plaque narrows or blocks blood flow to the heart muscle and can lead to other heart problems:

Other types of heart diseases may affect your heart valves or heart muscle (cardiomyopathy).

What causes heart diseases?

The causes of heart disease depend on the type of disease. Some possible causes include lifestyle, genetics, infections, medicines, and other diseases.

Who is more likely to develop heart diseases?

There are many different factors that can make you more likely to develop heart disease. Some of these factors you can change, but others you cannot.

What are the symptoms of heart disease?

Your symptoms will depend on the type of heart disease you have. You may not have symptoms at first. In some cases, you may not know you have heart disease until you have a complication such as a heart attack.

How are heart diseases diagnosed?

To find out if you have heart disease, your health care provider will:

In some cases, your provider may refer you to a cardiologist (a doctor who specializes in heart diseases) for tests, diagnosis, and care.

What are the treatments for heart disease?

Treatment plans for heart disease depend on the type of heart disease you have, how serious your symptoms are, and what other health conditions you have. Possible treatments may include:

Can heart diseases be prevented?

You may be able to lower your risk of certain heart diseases by making heart-healthy lifestyle changes and managing any other medical conditions you have.

NIH: National Heart, Lung, and Blood Institute

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