DOWN SYNDROME

Last week we celebrated world Down syndrome day.  So in this week’s PT weekly we will explain what Down syndrome is,  and the role we play as physiotherapists.

What is Down Syndrome?

Down  syndrome is a genetic disorder. It occurs when abnormal cell division results in an extra full or partial copy of chromosome 21, or it occurs when a baby acquires an extra chromosome in addition to the 46 chromosomes from both parents. This extra copy changes how the baby’s body and brain develop. This can lead to both mental and physical challenges.

 

Individuals with Down syndrome tend to have certain physical features in common, but their intellectual capabilities vary greatly. Most have mild to moderate issues with thinking, reasoning, and understanding.

Physical Features of Down Syndrome Include:

• A flattened face (bridge of the nose)
• Almond-shaped eyes that slant up
• A short neck
• Small ears
• A tongue that tends to stick out of the mouth
• Tiny white spots on the iris (colored part) of the eye
• Small hands and feet
• A single line across the palm of the hand
• Small pinky fingers that sometimes curve toward the thumb
• Poor muscle tone or loose joints
• Shorter in height as children and adults

Other Health Problems

Some of the more common health problems among children with Down syndrome are listed below;

• Hearing loss
• Ear infections
• Eye diseases
• Heart defects present at birth

Causes and Risk Factors

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

• Advanced maternal age:A woman’s chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. A woman’s risk of conceiving a child with Down syndrome increases after 35 years of age. However, most children with Down syndrome are born to women under age 35 because younger women have far more babies.
• Being carriers of the genetic translocation for Down syndrome:Both men and women can pass the genetic translocation for Down syndrome on to their children.
• Having had one child with Down syndrome: Parents who have one child with Down syndrome and parents who have a translocation themselves are at an increased risk of having another child with Down syndrome.

Physiotherapy Intervention

Physiotherapy aims to address any developmental problems that arise. We analyze the child’s abilities and aid in achieving developmental milestones as quickly as possible to try to keep up with their peers.  This enables children to participate more in school, in social activities and in their communities.  The goal is to lead as full a life as possible. In order to do this a physio will aim  to improve muscle strength, coordination and balance,  and to increase tone in order to help a child maximize their function. They aim to  prevent poor compensatory movement patterns that can cause problems later in life. They also recommend adaptive equipment and referrals to other healthcare professionals for helpful procedures as needed in order to really maximize the child’s growth and development in those critical years.

Although this is all critical during the developmental years, it can still be important later into adulthood as well.  All of the above are done to enable an individual to achieve maximal functional independence for improved quality of life, regardless of a their age or ability. If you or your loved one need assistance to manage complications related to Down syndrome,  at PCA we will guide, educate and treat any physical complications that arise.