Down syndrome is a chromosomal abnormality. Most people are born with 46 pairs of chromosomes, with 23 provided by each parent. This is how parents pass their genetic material on to their children.
With Down syndrome, there’s an abnormality with the 21st chromosomal pair. Sometimes a fetus ends up with a third copy of the 21st chromosome in each cell. This is called trisomy 21. In other cases, the extra chromosome shows up in some but not all cells. This is called mosaicism. A third variety of Down syndrome is where a fetus has only 46 chromosomes total, but there is an extra piece of chromosome attached to one of their 21st chromosomes.
Regardless of the type of Down syndrome, these chromosomal abnormalities cause issues with physical and mental development.
Diagnosis of Down syndrome:
Down syndrome can be diagnosed with ultrasound, but it may also be diagnosed at birth. Newborn babies with Down syndrome tend to have very specific features, including:
Upward slanting eyes
Smaller than average ears
Smaller than average head
Shorter than average neck
Flat facial features
Tongue that bulges
Poor muscle tone
A single crease across the palm of their hand
This is enough for a doctor to order an analysis to confirm diagnosis of Down syndrome.
Other symptoms include:
Difficulty with language development
Impaired decision making skills
Impaired cognitive skills
Babies with Down syndrome are also at greater risk of other disorders later in life, including:
Physical Therapy Treatments for Children with Down syndrome
As of this writing, there is currently no known cure for Down syndrome. However, there is still help available.
Your pediatric physicaltherapist can work with your baby to build the strength and movement skills they need to be able to perform physically. This can dramatically improve quality of life for those with Down syndrome.
Pediatric physical therapy treatment for Down syndrome begins with an evaluation. During this evaluation, your pediatric physical therapist will ask about your child’s health history. This includes when they began performing certain actions like lifting their head, rolling over, sitting up, or other activities as appropriate for their age.
They’ll also ask about any other diagnoses they may have received, history of other illnesses, and whether you have any specific concerns. From there, they’ll perform a physical examination of your child, paying particular attention to their muscular development, flexibility, and coordination. Depending on your child’s age, they may also check for balance, posture, coordination, motor skills, and ability to sit, walk, run, or jump.
From there, they’ll put together an individualized treatment program designed to address your child’s specific needs. This may include:
Muscle strength exercises
Motor skills exercises
Learning to crawl
Learning to sit up
Learning to stand
Learning to walk
Providing you with at-home exercises to reinforce physical therapy treatment
Depending on your child’s needs, your pediatric physical therapist may also recommend occupational therapy or speech therapy treatments.
District Speech and Language Therapy offers a variety of speech and language improvements solutions to help treat children & adult communication disorders, effectively.
Azhar is a registered physiotherapist with degrees from BPT, faculty of Medicine, DU (NITOR) and Masters in speech and language pathology, Department of communication disorders (DU).He has worked in a variety of settings, encompassing orthopedics, neurology, pain, paralysis and sports physiotherapy through Mayfair Wellness Clinic.