How well do you know about Trisomy 21 (Down Syndrome)?
Down syndrome is the most common chromosome-related genetic condition. It occurs when a person has an extra chromosome. Babies are usually born with 46 chromosomes but babies with down syndrome have an extra copy of chromosome 21. Down syndrome is also referred to as Trisomy 21.
The additional set of chromosomes has a significant impact of how the baby’s body and brain will develop. Often times this causes, mental and physical challenges as well as learning disabilities in children. Down syndrome may also cause other medical abnormalities, including heart and gastrointestinal disorders.
Physical Presentation
This group of special infants with down syndrome are typically:
· Shorter in height
· Hypotonic
· Have small hands and feet
· Possess poor oral motor skills. This may or may not impact ability to feed.
How about Down syndrome?
From available studies so far done, researchers know that Down syndrome is caused by an extra chromosome, but no one knows exactly why Down syndrome occurs or how many different factors play a role. Down syndrome is not inherited. It is as a result of a mistake in cell division during early development of the fetus. However, a type of Down syndrome known as Translocation Down Syndrome can be passed from parent to child. But, only about 3 to 4 percent of children with Down syndrome have translocation and only some of them inherited it from one of their parents.
When balanced translocations are inherited, the mother or father has some rearranged genetic material from chromosome 21 on another chromosome, but no extra genetic material. This means he or she has no signs or symptoms of Down syndrome, but can pass an unbalanced translocation on to children, causing Down syndrome in the children.
The age of a mother also seems to play a factor in the determinant of a baby with Down syndrome. Women who are 35 years or older are more likely to carry a pregnancy affected by Down syndrome than women who become pregnant at a younger age. But also, the majority of babies with Down syndrome are born to mothers who are 35 years old and below, perharps because , more pregnancies and births occur among younger women.
Detecting Down Syndrome
Detecting Down syndrome would require screening tests which often include a combination of a blood test, which measures the amount of various substances in the mother’s blood (e.g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid behind the baby’s neck. Extra fluid in this region could indicate a genetic problem. These screening tests can help determine the baby’s risk of Down syndrome. Rarely, screening tests can give an abnormal result even when there is nothing wrong with the baby. Sometimes, the test results are normal and yet they miss a problem that does exist.
Caring for children with Down syndrome
It is important for the Advanced Practice Registered Nurses (APRN) to address how development and learning capabilities differ in children with Down syndrome. But, typically, infants with Down syndrome grow and develop similar to other children but at a much slower rate. As providers, it is important to familiarize parents with appropriate developmental expectations for children with down syndrome.
Children with Down Syndrome tend to struggle with:
· Attention- difficult to stay engaged with a task
· Inhibitory control- difficult to understand what is important and what is not.
· Short-term verbal memory- difficult to learn by listening
· Planning and organization
· Switching mindset- difficult to switch between two tasks
· Asking for help
Some Bright Futures approach to anticipatory guidance to the management of children with Down syndrome would include:
· Ensuring that the child has first dental visit by 12 years of age
· Inquiring about using car seat
· Discussing crib safety
· Locking away all medications, cleaning products, automotive products, laundry products etc.
· Checking for hazards on the floor for infants who may be crawling or walking
· Ensuring that there are no hanging cords.
· Keeping electrical outlets covered.
· Keeping child out of rooms where hot objects may be touched
· Avoiding lead sources (lead paint, lead toys)
· Keeping small objects away (such as marbles, magnets, and batteries) (Hagan et al., 2017)
Always bear in mind that persons with Down syndrome are special and the condition is permanent. As such, early intervention and management will often these babies and children with Down syndrome to improve their physical and intellectual abilities, thereby helping them develop their full potential. These services include speech, occupational, and physical therapy.
They should be monitored regularly and if there are concerns, there is extreme need to reach out to your healthcare provider.
What other questions do you have about your treat habits for your child? How has this blog post helped you and your family. Please share this to anyone you think can benefit from the topic.
Omega Pediatrics Difference: At Omega Pediatrics in Roswell, Georgia we understand the challenges that parents face when their children develop symptoms late in the day or after hours. Many pediatric offices are closed after 4 pm however we are open every weekday up to 9 pm for walk-ins and we have telemedicine via evisits for our known patients. Our clinic is one of the easily accessible pediatric primary care clinics in the Roswell area, serving Alpharetta, Roswell, Johns Creek, Sandy Springs, Woodstock and surrounding cities. We provide pediatric primary care to families in the North Fulton area and we have families that live in Sandy Springs, Johns Creek, Duluth and Cumming.
Immunizations after-hours: One advantage of switching to Omega Pediatrics for your child’s primary care is that you can bring your child in for immunization and other preventive services after regular business hours. We provide this service because we have the passion for what we do and we want to be a comfortable and convenient service not the ordinary pediatric doctor’s office.
