Symptoms and treatment of Down syndrome

Description

Down syndrome is a genetic condition caused when an unusual cell division results in an extra full or partial copy of chromosome 21. This genetic material causes the developmental changes and physical features of Down syndrome.

The term "syndrome" refers to a set of symptoms that tend to occur together. With a down's syndrome, there is a pattern of differences or problems. The condition is the name of an English physician John Langdon Down, who first described it.

Down syndrome varies in severity among individuals. The condition causes lifelong intellectual disability and developmental delay. It is the most common genetic chromosomal cause of intellectual disability in children. It also commonly causes other medical conditions, including heart and digestive system problems.

Better understanding of Down syndrome and early intervention can greatly improve the quality of life of children and adults with this condition and help them live a full life.

Symptoms

Each person with Down syndrome is an individual. Problems with the intellect and the development are usually mild to moderate. Some people are healthy, while others have severe health problems such as heart problems that are present at birth.

Children and adults with Down syndrome have distinct facial and body features. Although not all people with Down syndrome have the same features, some of the most common include:

Flattening of the face and a small nose with flat bridge.
Small head.
Short neck.
The tongue that tends to stick out of the mouth.
Upward slanting of the eyelids.
Skin fold of the upper eyelid that covers the inner corner of the eye.
Small, rounded ears.
Wide, small hands with a single crease in the palm and short fingers.
Small feet, with a space between the first and second toes.
Small white spots on the colored part of the eye is called the iris. These white spots are called Brushfield spots.
Low rise.
Lack of muscle tone in infancy.
The joints that are loose and very flexible.

Babies with Down syndrome can be of average size, but they usually grow slowly and remain shorter than that of other children of the same age.

Delays in the development

Children with Down syndrome take longer to reach developmental milestones, such as sit, talk and walk. Occupational therapy, physical therapy, and speech and language therapy can help to improve physical functioning and speech.

Intellectual disability

The majority of children with Down syndrome have mild to moderate cognitive impairment. This means that they have problems with memory, learning of new things, approach and thinking, or making decisions that affect their everyday life. The speech and language delay.

The early intervention and special education services can help children and teens with Down syndrome to reach their full potential. Services for adults with Down syndrome can help you live a full life.

When to see a doctor

Down syndrome is usually diagnosed before or at the time of birth. But if you have any questions regarding your pregnancy or your child's growth and development, talk with your doctor or other health care professional.

Causes

Human cells usually contain 23 pairs of chromosomes. One chromosome of each pair comes from the sperm, the other from the egg.

Down syndrome results from an unusual cell division involving chromosome 21. This unusual cell division results in an extra full or partial chromosome 21. This extra genetic material that changes the way the body and brain develop. Is responsible for the physical features and developmental problems of Down syndrome.

Any of the three genetic changes can cause Down syndrome:

Trisomy 21. Approximately 95% of the time, Down syndrome is caused by trisomy 21. This means that the person has three copies of chromosome 21, instead of the usual two copies. The extra chromosome 21 in all cells of the body. Trisomy 21 results in an unusual cell division during the development of the sperm cell or the egg.
Mosaic Down syndrome. This is a rare form of Down syndrome. People with mosaic Down syndrome have only some cells with an extra copy of chromosome 21. This mosaic of the typical and changed cells is caused by an unusual cell division after the ovum has been fertilized by the sperm.
Translocation Down syndrome. In a small number of people, Down syndrome can occur when part of chromosome 21 attaches, also called a ride on another chromosome. This may occur before or at the time of conception. The person has the usual two copies of chromosome 21, but also has genetic material extra chromosome 21 attaches to another chromosome.

Is hereditary?

Most of the time, Down syndrome is not passed down in families. The condition is caused by a random unusual cell division. This can happen during the development of the sperm cell or the egg or during the early development of the baby in the uterus.

Translocation Down syndrome can be passed from parents to children. But only a small number of children with Down syndrome have translocation, and only some of them inherited from one of their parents.

Either parent can have a balanced translocation. The father has some rearranged genetic material of chromosome 21 to another chromosome, but not in excess of genetic material. This means that the father has no signs of Down syndrome, but you can pass an unbalanced translocation in children, causing Down's syndrome in children.

Risk factors

Some parents have a greater risk of having a baby with Down syndrome. The risk factors include:

Advanced age. Chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of unusual chromosome of the division. The risk of having a child with Down syndrome increases after a pregnant person is 35 years of age. But the majority of children with Down syndrome are born to pregnant women, people under the age of 35 years, because they have a lot more babies.
Be carriers of the translocation genetics of Down syndrome. Either parent can pass the translocation genetics Down syndrome on to their children.
Having had one child with Down syndrome. Both the parents who have a child with Down syndrome and parents who have a translocation themselves, are at greater risk of having another child with Down syndrome. A genetic counselor can help parents understand the risk of having a second child with Down syndrome.

Complications

Health concerns that result from having Down syndrome can be mild, moderate, or severe. Some children with Down syndrome are healthy, while others may have serious health problems. Some health problems can be more of a problem as the person ages.

Health concerns may include:

The problems of the heart. Around half of the children with Down syndrome are born with some type of heart disease that is present at birth. These heart problems can be life-threatening and may require surgery in early childhood.
Problems with the digestive system and digestion of food. Of the stomach and intestine conditions occur in some children with Down syndrome. These can include changes in the structure of the stomach and intestines. There is an increased risk of developing digestive problems, such as intestinal obstruction, heartburn called gastroesophageal reflux disease (GERD) or celiac disease.
Problems with the immune system. Due to the differences in their immune systems, people with Down syndrome have an increased risk of developing autoimmune disorders, some forms of cancer and infectious diseases such as pneumonia.
Sleep apnea. And soft tissues of the spine changes can lead to the obstruction of the airways. Children and adults with Down syndrome have an increased risk of obstructive sleep apnea.
The overweight. People with Down syndrome are more likely to be overweight or obese compared with the general population.
Problems of the spine. In some people with Down syndrome, the first two vertebrae in the neck not lined up as they should. This is called atlantoaxial instability. The condition that puts people at risk of serious injury to the spinal cord of the activities that bend the neck too far. Some examples of these activities include contact sports, and horseback riding.
Leukemia. Young children with Down syndrome have an increased risk of leukemia.
Alzheimer's disease. Having Down syndrome greatly increases the risk of developing Alzheimer's disease. Also, the dementia often occurs at a younger age than in the general population. Symptoms may begin around age 50.
Other problems. Down syndrome can also be linked with other health conditions, such as thyroid problems, dental problems, seizures, ear infections, and hearing and vision problems. Conditions such as depression, anxiety, autism and attention-deficit hyperactivity disorder (ADHD) may also be more common.

The hope of life

Over the years, there have been advances in healthcare for children and adults with Down syndrome. Due to these advances, the children that are born today with Down syndrome are likely to live a longer life than in the past. People with Down syndrome can expect to live more than 60 years, depending on the severity of their health problems.

Prevention

There is no way to prevent Down syndrome. If you are at a higher risk of having a child with Down syndrome or who already have a child with Down syndrome, you may want to talk with a genetic counselor before becoming pregnant.

A genetic counselor can help you understand your risk of having a child with Down syndrome. The counselor can also explain the prenatal tests that are available and help to explain the pros and cons of testing.

Diagnosis

The American College of Obstetricians and Gynecologists recommends offering the option of screening tests and diagnostic tests for Down syndrome to all pregnant women, no matter the age.

Screening tests may suggest the possibility or probability that you are carrying a baby with Down syndrome. But these tests can't tell for sure if your baby has Down syndrome.
Diagnostic tests can tell you with certainty whether your baby has Down syndrome.

Your health care professional may be able to discuss the types of tests, advantages and disadvantages, benefits and risks, and the meaning of their results. If necessary, your healthcare provider may recommend that you talk with a genetic counselor.

Screening tests during pregnancy

Screening for Down syndrome is offered as a routine part of the care before the birth of the baby, called prenatal care. Although screening tests can only tell your risk of having a baby with Down syndrome, that can help you make decisions about the need for diagnostic tests.

Screening tests include the test of the combined first trimester and integrated screening test. The first quarter media about the first three months of pregnancy.

The combined test of the first quarter

The first trimester combined test is performed in two steps. These include:

Blood test. This blood test measures the levels of pregnancy-associated plasma protein-a(PAPP-a) and the pregnancy hormone known as human chorionic gonadotropin (HCG). The levels of PAPP-a and HCG outside of the standard range, it may indicate a problem with the baby.
The nuchal translucency screening test. During this test, an ultrasound exam is used to measure a specific area in the back of the neck of your baby. When certain conditions caused by changes in the chromosomes are present, more fluid than usual tends to collect in this neck tissue.

The use of your age and the results of the blood test and ultrasound, your health care professional or a genetic counselor can assess the risk that your baby has Down syndrome.

The integrated screening test

The integrated screening test is done in two parts, during the first and second trimester of pregnancy. The results are combined to estimate the risk of your baby having Down syndrome.

In the first quarter. The first part includes a blood test to measure the concentration of PAPP-a and an ultrasound to measure nuchal translucency thickness.
In the second quarter. The quad screen measures your blood levels of four substances in pregnant women: alpha fetoprotein, estriol, HCG, and inhibin A.

Cell-free DNA testing

A small amount of DNA is released from the placenta in pregnant women in the bloodstream. This cell-free DNA in the blood can be tested for the extra chromosome 21 material of Down syndrome.

For those at risk of having a baby with Down syndrome, the test can be performed from 10 weeks of pregnancy. If the test is positive, the diagnosis is often necessary to confirm that the baby has Down syndrome.

Diagnostic tests during pregnancy

If your screening test results are positive or uncertain, or you are at high risk of having a baby with Down syndrome, you might consider the possibility of further testing to confirm the diagnosis. Your health care professional can help you weigh the pros and cons of these tests.

The diagnostic tests that can identify the syndrome are:

Chorionic villus sampling (CVS). In CVS, the cells are taken from the placenta. The cells were used to examine the chromosomes of the baby. This test is usually performed in the first trimester, between weeks 10 and 14 of pregnancy. The risk of loss of the pregnancy, it is called a spontaneous abortion, a CVS is very low.
The Amniocentesis. A sample of the amniotic fluid that surrounds the baby in the womb is removed through a needle that is inserted into the uterus of the mother. This sample is used to examine the chromosomes of the baby. This test is usually performed in the second quarter, after 15 weeks of pregnancy. This test also carries a very low risk of spontaneous abortion.

Couples who are in treatment of infertility through in vitro fertilization (IVF) who know that they are at greater risk of transmission of certain genetic diseases to their children can choose the embryo genetic testing of changes before they are implanted in the uterus.

Diagnostic tests for newborns

A physical exam is usually sufficient to identify the syndrome in an infant in the first 24 hours after birth. If your healthcare provider believes that your baby has Down syndrome, their health care provider orders a test called a chromosomal karyotype to confirm the diagnosis. Using a blood sample, this study finds her son in the chromosomes. If there is an extra full or partial chromosome 21 in some or all of the cells, the diagnosis is Down syndrome.

Treatment

Early intervention for infants and children with Down syndrome can make a big difference in the improvement of their quality of life. Because every child with Down syndrome is unique, the treatment will depend on the needs of your child. Also, as your child grows and enters at different stages of life, your child may need different care or services.

To people with Down syndrome, in course of the services, including health, education and life skills, are very important to long life. Get routine medical care and treatment when necessary, can help to maintain a healthy lifestyle.

Care team

If your child has Down syndrome, the more likely it is to have a team of specialists that can provide the medical care and help your child to develop skills as completely as possible. Depending on the needs of your child, your team may include some of these experts:

The primary care pediatrician to coordinate and provide routine care to early childhood.
Cardiologist specialist called a cardiologist.
Pediatric digestive system specialist called a gastroenterologist.
Pediatrics specialist in the treatment of hormone-related conditions called an endocrinologist.
A developmental pediatrician.
Pediatric nervous system specialist called a neurologist.
Pediatric ear, nose and throat (ENT) specialist.
Pediatric eye doctor called an ophthalmologist.
Hearing professional called an audiologist.
Speech and language therapist called a speech-language pathologist.
The physical therapist.
Occupational therapist.

You will have to make important decisions about your child's treatment, services and education. Build a team of health professionals, teachers, and therapists of confidence. These professionals can help you find resources in your area and explain state and federal programs for children and adults with disabilities.

You may find it helpful to search for a developmental pediatrician, a specialist with knowledge about Down syndrome. Also, some areas have a child with Down syndrome specialty clinic that offers a range of services in a single place. These experts give special attention to the needs and problems that are more common in people with Down syndrome. It can work in conjunction with the primary care professional.

Adults with Down syndrome

As her son with Down syndrome becomes an adult, the health needs may change. In addition to a general health screening is recommended for all adults, the course of health care includes the assessment and the treatment of diseases that are more common in adults with Down syndrome. You can choose to visit an adult Down syndrome specialty clinic, if available.

Conditions common in adults with Down's syndrome are:

The vision and hearing.
The dental problems.
Low levels of thyroid is called hypothyroidism.
Diabetes.
The celiac disease and GERD.
Heart disease, stroke, and high cholesterol.
Obesity.
Sleep apnea.
The mood and behavior changes.
Alzheimer's disease.
Bone problems, such as problems of the spine, arthritis and osteoporosis.

In addition to meeting the needs of health care for adult loved one with Down syndrome includes the planning for the current and future needs of life, such as:

Living arrangements.
Social and recreational opportunities.
Support programs and jobs.
Financial support.
Guardianship.

Coping and support

When you become aware that your child has Down syndrome, you may experience a variety of emotions. You may not know what to expect, and you may not be sure of her ability to take care of a child with a disability. The information and support that can help alleviate these problems.

Please keep in mind these steps to prepare yourself and your child's attention:

Ask your health care professional about early intervention programs in your area. Available in most states in the united states, these special programs for infants and young children with Down syndrome and other disabilities. They usually begin in the birth to 3 years of age. The programs help to develop the motor, language, social and self-help skills. Most of the programs offer free screening to assess the skills of your child and their needs. An Individual Family Service Plan (IFSP) is created for the outline of services to meet the needs of your child.
Learn about educational options for the school. Depending on the needs of your child, the options may include attending regular classes, so-called mainstreaming, support staff in regular classes, special education classes, or a combination. An Individualized Education Plan (IEP) is a detailed written document that describes how a school system to provide education that meets the needs of your child. Talk with your school district on the development of an IEP for your child.
Search for other families that have a family member with Down syndrome. Most of the communities, and national organizations that have support groups for parents and families of children and adults with Down syndrome. You can also find online support groups. Family and friends can be a source of understanding and support.
Participate in social and leisure activities. Take time for family outings and look in your community for social activities, such as the park of the district's programs, Special Olympics, sports teams or ballet classes. This kind of activities can help your child to feel part of a team, and build self-confidence. Children and adults with Down syndrome can enjoy many social activities and entertainment, although some adjustments may be needed to help them to take part in the activities.
Encourage independence. The skills your child may be different than other skills of the children. But with your support and a little practice, your child may be able to perform independent tasks, such as packing a lunch, bathing, and dressing, cooking, house cleaning, and laundry service. You could make a daily list of tasks to be done in your child. This is likely to help your child feel more independent and accomplished.
Prepare for the transition to adulthood. Opportunities to live, work, and social and leisure activities can be explored before your child leaves school. Life of the community or group of communities, housing and employment, day programs or workshops after high school require some prior planning. Ask about the opportunities and support in your area.

People with Down syndrome can live a full life. The majority of people with Down syndrome are living with their families, in support of the life of the setting or independently. With the necessary support, most people with Down syndrome go to regular schools, reading and writing, make decisions, have friends, enjoy an active social life, and have jobs.