Down Syndrome

People with Down syndrome have an extra or irregular chromosome in some or all of their body’s cells. The chromosomal abnormalities impair physical and mental development. Most people with Down syndrome have distinctive physical features.

What causes Down syndrome?

The extra or irregular chromosomes related to Down syndrome result from abnormal cell division in the egg before or after it is fertilized by sperm. Less often, the abnormal cell division occurs in sperm before conception. It is not known why the cells divide abnormally.

What are the signs?

Signs of Down syndrome usually appear at birth or shortly thereafter. Many children with the condition have a flat face, small ears and mouth, and broad hands and feet, although these features vary from person to person. Most young children have a lack of muscle tone (hypotonia), which generally improves by late childhood.

Often developmental disabilities result from the combination of a lower intelligence level and physical limitations related to Down syndrome. Heart defects, intestinal abnormalities, and irregular ear and respiratory tract structures can also occur and cause additional symptoms or lead to complications.

Your child’s treatment for Down syndrome will be directed by a team of health professionals. This treatment is guided by the identification of your child’s unique symptoms and physical problems. You can help your child become as independent as possible and lead a healthy, productive life by working closely with these health professionals and other care providers.

Initial treatment

It is normal to experience a wide range of emotions when your baby is born with Down syndrome. Even if you learned about your baby’s condition while pregnant, the first few weeks after birth often are very difficult as you learn to cope with the diagnosis.

A confirmed diagnosis of Down syndrome requires karyotyping. This test usually is done on a sample of your baby’s blood if it is done after birth. It may take 2 to 3 weeks to get the complete results of this test. This waiting period can be extremely difficult, especially if earlier test results were uncertain and your baby has only subtle characteristics of Down syndrome.

Your newborn with Down syndrome will have regular checkups and various tests during the first month. These tests are used to monitor his or her condition and to help health professionals look for early signs of common diseases associated with Down syndrome and other health conditions. These checkups also are a good time to begin discussing issues of concern about your newborn.

As a parent of a child with Down syndrome, you play an important role in helping your child reach his or her full potential. Most families choose to raise their child, while some consider foster care or adoption. Support groups and organizations can assist you in making the right decision for your family.

Being a parent of a child with Down syndrome is full of challenges and frustrations and frequent highs and lows—all of which can lead to exhaustion. Take good care of yourself so you have the energy to enjoy your child and attend to his or her needs.

Developmental milestones and achieving basic skills

Be patient and encouraging with your young child as he or she learns to walk and master other developmental skills, such as turning over, sitting, standing, and talking. Your child will likely take more time than other children to reach these milestones, but the achievements are just as significant and exciting to watch.

Enroll your young child (infant through age 3) in an early-intervention program. These programs have staff who are trained to monitor and encourage your child’s development. Talk with a health professional about programs available in your area.

Basic skills, such as learning to feed oneself and dress independently, also take longer to accomplish for children with Down syndrome. Maintain a positive attitude when helping your child learn these tasks. Provide opportunities to practice and recognize that it is okay for your child to be challenged and sometimes fail.

You also can promote your child’s development by having a positive attitude and providing him or her with learning and socialization opportunities. You can stimulate your child’s thinking skills without making tasks too difficult.

A child with Down syndrome may need additional therapy, counseling, or training. Parents and other caregivers may also need assistance in planning a secure future for their family member with Down syndrome.

Different types of therapy, such as occupational and speech therapy, are used frequently to help people with Down syndrome learn essential skills and achieve as much independence as possible.

Families of children with Down syndrome may need other types of resources, such as:

  • Financial assistance. Children with Down syndrome have special needs that may create additional financial expenses for the family. In the United States, some state and federal government services help cover the costs of certain programs. The amount your child receives depends on different factors such as your income and your child’s level of disability. To find out about financial assistance in your state, call your state’s Department of Developmental Disabilities.
  • Estate planning. Become familiar with tax issues and estate planning to ensure that your child will have proper care and necessary resources available should you die. If you have other children who have developed normally, include them in planning for the future of your child with Down syndrome.

Family counseling. This therapy involves regular sessions with a qualified counselor who has experience working with families who have children with Down syndrome.

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