Click here for photo creditOctober has been recognized as Down Syndrome awareness month since the 1980s. It is a time when we celebrate the abilities and accomplishments of people with Down Syndrome, and it is an opportunity to spread awareness.
Down syndrome is a genetic disorder where children are born with an extra chromosome. Typically, individuals have 46 chromosomes, however an individual with Down Syndrome has an extra chromosome 21. It is the most common genetic disorder. This extra copy changes how the individual’s body and brain develop, which can cause both mental and physical challenges. Individuals with Down Syndrome have varying degrees of intellectual and physical disability and associated medical issues.
The physical features associated with Down Syndrome can vary greatly from one individual to another. Children with Down Syndrome share some of the following traits:
Each individual with Down Syndrome is unique and may present with some of these characteristics, none of them or other traits not listed.
Down Syndrome usually comes in one of three forms:
Not much is known about what causes Down Syndrome. Doctors know that it is caused by having an extra chromosome 21 but no one knows for sure why the cells divide in such a way that they have an extra chromosome.
Although we don't know what causes Down Syndrome, we are able to identify certain risk factors that place a woman at risk for having a baby with Down Syndrome. One identified risk factor is advanced maternal age. The likelihood of having a baby with Down Syndrome increases if the woman is over the age of 35. In addition, already having a child with Down Syndrome also increases the likelihood of having another child with Down syndrome.
A diagnostic test is typically recommended when a concern is noted in one of the prenatal screenings. The screenings that are typically performed include a blood test and an ultrasound. The blood test looks for specific markers that, when present, indicate the possibility of a genetic problem. In conjunction with a blood test the woman typically also has a routine ultrasound at about 20 weeks. During the ultrasound the technician looks for increased fluid behind the neck which also suggests the presence of a genetic disorder.
During the preliminary screening, if concerns are noted then the woman is typically referred for additional genetic testing to confirm the presence of a genetic disorder. These diagnostic tests look for changes in chromosomes that indicate Down Syndrome and is usually one of the following:
A diagnosis of Down Syndrome is typically made in utero or at birth.
Children with Down Syndrome exhibit low muscle tone which can cause their movements to appear “floppy” and their joints to be very flexible (hypermobility). An individual with low muscle tone may need to exert more effort when performing an activity to activate their muscles. Muscle strength is also often reduced in children with Down Syndrome. Both of these factors can contribute to gross motor delay as children lack the strength and endurance and must work harder to learn new skills.
Individuals with Down Syndrome typically receive physical therapy to address gross motor development. It usually starts in infancy where the therapist focuses on building fundamental motor skills that allow the child to begin to explore their environment independently. This may consist of working on rolling, sitting, standing, balancing and eventually walking. As the child progresses to school the therapist will continue to work on higher level skills that focus on their ability to play sports, negotiate a playground, and participate in physical education class. They might work on jumping, catching, hopping or their ability to negotiate stairs.
Physical therapists are experts in breaking down motor skills and determining which areas need to be addressed in order to promote the acquisition of skills. PTs also educate parents and caregivers on how to work on specific skills because consistent practice, repetition and over learning is critical to mastery of skills and the ability to generalize the skill outside of their PT session.
.png)
.png)
.png){kind=small}
.png){kind=small}
.png){kind=small}