Down Syndrome (DS) is also called Trisomy 21. DS is caused by a genetic problem that happens before birth. DS changes the way the brain and body develop. Children with DS have distinct physical features, intellectual disability and are more likely to have other medical problems. The severity of DS can vary widely from child. DS is a lifelong condition. With care and support, most children with Down syndrome grow up to have healthy, happy and productive lives.

Symptoms include:

  • Distinct facial features, such as a flat facial profile, an upward slant to the eyes, small ears, small mouth and protruding tongue
  • A short neck and short limbs
  • Upper neck abnormalities may occur
  • Low muscle tone resulting in weak muscles and loose joints
  • Below average intelligence
  • Slower growth and development compared to other children
  • About half of children with DS will have congenital heart defects
  • All have an increased risk of developing pulmonary hypertension – a condition that can cause lung damage
  • About half of children with DS have hearing loss and/or vision problems and increased risk of cataracts
  • Some children with DS have intestinal abnormalities, thyroid problems, seizure disorders, obesity, respiratory problems, increased susceptibility to infections and a higher risk of childhood leukemia
  • Many children have behavior problems, such as oppositional defiant disorder and autism. These conditions may lead to increased difficulty with socialization skills later in life.

Description of rehab evaluation

Your doctor may refer you to a pediatric therapist. The therapist will review your child’s medical history and talk to you about your concerns.

A physical therapist will measure your child’s strength, balance, posture, movement and ability to walk and move about.

An occupational therapist will assess your child’s abilities to care for themselves. They will observe your child and ask you about how your child eats, if they can feed their self, dress, bathe, brush their teeth, comb their hair and take care of their toileting needs and sleep. They will discuss with you, your child’s ability to participate in home life, play and school related learning.

A Speech-language pathologist will test your child’s communication skills. They will test their ability to understand language and speak so others can understand them.

The therapist will discuss the results of the evaluation. They will talk with you about treatment. Together you will decide on a plan to best meet your child’s needs.

Common rehab treatment interventions include:

A Physical therapist will work on strengthening weak muscles, improving balance, coordination and posture. The therapists will teach parent’s exercises and activities they can practice at home with their child. Therapy is performed through adaptive play to make the session s engaging for the child.

The Occupational therapist will work with your child to help them accomplish daily activities such as

  • Eating and feeding themselves
  • Using their hands
  • Hand-eye coordination to manage fastenings on clothing
  • Coloring
  • Writing
  • Cutting with scissors

Children who have sensory concerns, attention issues, or behavioral disorders may learn techniques to improve attention and focus, manage anger, or acquire social skills. OTs will evaluate a child's need for specialized equipment in order to allow a child to gain more independence in their everyday lives. Equipment may range from pencil grips to wheelchairs.

Speech therapy. Children with Down syndrome usually learn to talk but do so later than other children. Structural abnormalities of the mouth or tongue may make it difficult for children with Down syndrome to talk. Speech therapists will help your child learn speech and language skills such as making sentences and speaking clearly. They may also teach Sign language as a means to enhance a child’s ability to communicate.

Definitive diagnosis resources:

Down Syndrome is frequently diagnosed before birth through screenings or diagnostic tests. While screenings can help determine the risk that an infant might have DS, it is not a definitive measure. Diagnostic tests are 99% accurate but are performed on material from inside the uterus, so these tests have an associated risk of miscarriage or further complications. Women over 35 are considered to be at more risk of having a child with DS.

Down Syndrome is generally recognized at birth due to the characteristic facial features and other physical indicators present, but a doctor suspecting DS can recommend a clinical genetics evaluation with chromosome analysis in order to fully confirm the diagnosis.

Your pediatrician can arrange this kind of evaluation through The Down Syndrome Clinic at Primary Children's Medical Center.

This is a consultation clinic to help families and primary care physicians determine what special care and services may be needed. The clinic team provides expert consultation in these areas:

  • Medical diagnosis and recommended treatments
  • Healthcare approaches related to feeding, toileting, sleeping, and preventing illness
  • Behavioral management at home and in the community
  • Developmental and educational programs

In addition, team members make referrals to other specialized services at Primary Children's or elsewhere, and can also help find resources in the family's local community.

The genetics program at Primary Children's also provides genetic counseling, testing, and consultation for families of children with a wide range of genetic conditions, including chromosomal disorders, single gene disorders, and recognizable syndromes.

Primary Children's Medical Center
100 North Mario Capecchi Drive
Salt Lake City, UT 84113

Main Number: 801-662-1000
Appointments: (801) 662-1600

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