Indicators of down syndrome in pregnancy: Many people have heard of Down syndrome but are not sure why one in 800 babies are born with the condition. Simply put: the condition occurs when there’s an additional genetic material that causes delays in child development. Trisomy 21 – the origin.
Due to my age, I had a myriad of tests done before I was even “qualified” to have the IUI procedure done for my first baby. I do, however, remember being asked to do a screening type test for down syndrome for my level 2 ultrasound at around 18 weeks pregnant.
It was a NIPT or a non invasive prenatal test – (also known as cell-free fetal DNA testing), followed by an amniocentesis (this test with 99 percent accuracy, will tell you if your child has Down syndrome or another chromosomal abnormality).
For me, they were negative. I never knew I could turn down the offer for the indicators of down syndrome in pregnancy to be checked, I probably would have declined due to the risk.
Still, I was worried and wanted to know more but I knew the chances of down syndrome in pregnancy were low.
But for some first time or experienced mom to be’s that is not always the case. Please don’t ever feel that this is something YOU as a mom did to your little one.
You did not cause your child to have Down syndrome, there is nothing you can do to prevent or change your odds of having a child with Down syndrome.
I also found this great resource on what to say when you do receive the diagnosis that your precious little baby will have DS: NoahsDad
Now lets get into what this is all about…
Table Of Contents
- 1 Signs Of Down Syndrome
- 2 How Down Syndrome Is Diagnosed
- 3 What Is The Treatment For Children With Down Syndrome
- 4 How Does Occupational Therapy Help Children With Down Syndrome
- 5 How Does Speech Therapy Help Children With Down Syndrome
- 6 How Does Physical Therapy Help Children With Down Syndrome
- 7 Love and Learning: A Language and Reading Development Tool For Babies and Toddlers
- 8 What’s So Special About The Technique?
- 9 How Orthotic Intervention SureStep Can Help Down Syndrome Children
Signs Of Down Syndrome
Each child is different in how they display symptoms of Down syndrome. Most children with DS will lead full, independent and healthy lives, though some may need some medical intervention.
How Down Syndrome Is Diagnosed
Physical characteristics of children with down syndrome:
- Flat facial profile
- Short neck
- White spot on eye’s iris (Brushfield spots)
- Upward slant of eye
- One deep transverse crease on palm of hand
- Odd shaped ears
Bear in mind that a child with Down syndrome may not have all these symptoms and some can be seen in populations not suffering with the condition.
For an official diagnosis, the child’s doctor will do a blood test known as chromosomal karyotype. For two weeks, the cells in the baby’s blood will grow and a microscopic visualization of the chromosome will determine if additional material is present in chromosome 21.
There’s no way to determine what the physical and intellectual limitations and capabilities of a child with Down syndrome is going to be. After all, they can have an array of abilities.
One person with Down syndrome could be very healthy while another person with it could be medically demanding and have social problems.
A person with Down syndrome may not be the same as another person with it – each one is unique. On top of that, not everybody with the condition will suffer with the various medical disorders that can arise with it.
What Kinds Of Medical Disorders Are Commonly Seen With Down Syndrome?
In the first few days and months of life, some of the medical disorders associated with Down syndrome such as:
- Congenital hypothyroidism
- Hearing loss
- Vision problems
- Heart disease
A Look At Congenital Hypothyroidism
This condition is recognized by the decrease basal metabolism, a larger than normal thyroid gland and problems with the autonomic nervous system. It’s generally seen more in babies who have Down syndrome. The doctor will do a routine blood test on the newborn for the condition.
A Look At Hearing Loss
According to various studies, between 66 and 89 percent of children who have Down syndrome also have a hearing loss that’s more than 15 to 20 decibels in one of their ears.
That’s because their external ear and the inner ear and middle ear bones develop in a different way. Most of the hearing issues can be addressed.
However, since there is such a high number of Down syndrome children with hearing loss, a hearing test should be given to determine how much hearing they have.
A Look At The Visual Problems
Down syndrome children can also experience visual problems, with three percent of the children having cataracts that need to be surgically removed.
A Look At Heart Disease and Pulmonary Hypertension
Nearly half of children with Down syndrome suffers with congenital heart disease or hypertension. In order to find out if a child has this, an echocardiography will be done. If there are identifiable defects, surgery may give the best possible results.
A Look At Seizure Disorders
While seizure disorders are not as prevalent as other listed medical conditions, it can still be an issue with five to 13 percent of children who have Down syndrome.
There is a high number of children under the age of one who have had seizures or infantile spasms that were caused by neonatal complications, cardiovascular disease and infections.
They can be treated, however, with anti-epileptic drugs.
Each child with Down syndrome is different, and the severity of the condition is vary. Some conditions may demand surgery to help the child.
What Is The Treatment For Children With Down Syndrome
The best way possible to treat a child who’s got Down syndrome is by early intervention. This means programs specially-designed for people with Down syndrome and other resources that healthcare professionals have made available.
Healthcare professionals can include an array of folks including but not limited to:
- Social workers
- Occupational therapists
- Speech therapists
- Special educators
The recommendation is to always encourage and stimulate children who have Down syndrome.
It’s difficult to know if early intervention programs for DS children are worthwhile because there an array of experimental designs being used, the limited number of available measures that gauge how disabled infants are doing and the vast unpredictability in the developmental progress among Down syndrome children – all because of the various medical factors in play.
While various studies have been completed to determine what effects early intervention has had, the data is rather limited and is inconsistent, especially in regards to the long-term success of early intervention with Down syndrome children.
Federal laws have been created to help all states ensure that all children, including handicapped ones, to get a free public education and related services to meet their individual needs.
One of the most important decisions parents with a Down syndrome child will make is where to send their child for an education. Parents, along with the healthcare and educational professionals, must work together to find a suitable educational facility.
A parent needs to decide if their child would do best in a regular school environment or in a facility where other children with special needs attend. In the last decade, inclusion has been more and more common.
Remember, the cognitive development of each Down syndrome child is different, and early intervention should start soon after their birth.
The typical treatment team will consist of physical therapists, speech therapists and occupational therapists.
How Does Occupational Therapy Help Children With Down Syndrome
When just a baby, the occupational therapy (OT) will help you with the feeding issues, giving you tips on how best to position and feed your children.
As they get older, these therapists will help them to perfect their fine motor skills, including how to use their small muscles to pick up objects.
Down syndrome leads to low muscle tone, joint ligament laxity and reduced strength, which means some of the self-help skills they’ll learn is how to dress, feed and bathe themselves.
How Does Speech Therapy Help Children With Down Syndrome
Down syndrome children have an erratic range of communication and language skills. This is why your doctor is likely to check for hearing loss and middle ear problems. If these problems are detected, your doctor will correct them by using hearing aids or other amplification devices.
Speech therapy will help your child learn expressive language. Personalized speech therapy will keep an eye on certain speech mistakes, boost speech articulacy and boost advanced literacy and language.
Speech therapy should be started before your child says his/her first world. This will help reduce the aggravation that can result from not being able to speak clearly their desires and needs.
The child’s speech therapist may suggest your child does oral motor exercises and activities to better their muscles and their coordination.
How Does Physical Therapy Help Children With Down Syndrome
Again, every child with Down syndrome is different, and the extent to which your child’s gross motor skills are affected can vary. This is why your physical therapist will work with him/her to attain their potential.
There are four factors that will affect your child’s gross motor skills such as:
- Increased joint flexibility
- Reduced muscle tone (hypotonia)
- Short arms/legs
- Reduced muscle strength
If your child does not get physical therapy, your child may suffer with orthopedic problems later because they’re not using their muscles correctly.
Some examples of this problem include:
- Standing with arched back and stomach out
- Sitting down with backwards titled pelvis and rounded trunk
- Standing/walking with hips in external rotation, flat feet and stiff knees
When physical therapy begins at a young age, it allows your child to ensure proper alignment and avoids potential health problems in the future.
Love and Learning: A Language and Reading Development Tool For Babies and Toddlers
Love and Learning, which was developed by Joe and Susan Kotlinski, is an innovative technique that teaches both reading and language skills to babies and toddlers.
The couple created the program after the birth of their daughter who was diagnosed with Down syndrome. The method uses a mixture of special audio CDs, DVDs, computer programs and books that includes a fair amount of parental involvement.
What’s So Special About The Technique?
It’s an original piece of work, presenting letters and words in a clear way that helps Down syndrome children put their attention on each individual sound of a word.
The audio CD is used during playtime, bedtime or naptime so the child can hear the words in a slow, concise way. They are phonetically and visually repeated in a focused way.
Special books also present the same words/letters, and when used for several minutes on a daily basis, it reinforces the audio CD and DVD.
It also helps to give the child and parent some reading time together.
Every DVD offers a presentation to parents on how best to use the method to help their child’s individual needs. Love and Learning provides a method that is focused on their success – to boost their self-esteem and sound learning principles.
To learn more, you can check out www.loveandlearning.com.
How Add-A-Bands Can Help Children With Down Syndrome
Add-A-Bands is a device that’s been created to help Down syndrome children understand the normal movement patterns, especially if they suffer with slack hip ligaments or have low muscle tone.
Slack hip ligaments can cause a lot of flexibility, making it hard to support a good movement position. A child that has problems easily moving around may develop undesirable traits like moving from a sitting position to a lying position with their legs spread wide open.
When it’s used correctly, Add-A-Bands can give the best support at their feed or knees when their legs are too wide. There is just one restriction with the amalgamation of movements at the hip joints, which is the limiting of the increased widening.
They can also be used to reduce the excessive leg widening, especially for children who suffer from nerve damage paralysis or muscle weakness.
How Orthotic Intervention SureStep Can Help Down Syndrome Children
A Down syndrome child with low muscle tone often has pronating feet. It’s important this pronation is dealt with when the child is staring to pull up and stand.
The SureStep, which isn’t like other previous bracing methods, was created for children who have low muscle tone. The idea behind it is to bring together compression and unique trimlines so that kids can jump, run and squat while preserving their stability and alignment.
If you are curious about your child’s development or behavior, we’re here to help. If you’re concerned, we encourage all parents and caregivers to trust their gut. Here’s a quick set of questions that may help you. Click here
The sources for some of this information is the Center for Disease Control and Prevention and the National Institute of Neurological Disorders and Stroke.
As well as some major resources below:
P.O. Box 5801
Bethesda, MD 20824
Phone (800) 352-9424
Administration on Developmental Disabilities
Administration for Children and Families
U.S. Department of Health and Human Services
Mail Stop: HHH 300F
370 LEnfant Promenade S.W.
Washington, DC 20447
National Down Syndrome Congress
1370 Center Drive, Suite 102
Atlanta, GA 30338
National Down Syndrome Society
New York, NY 10012
Mid-Atlantic Regional Human Genetics Network (MARHGN)
Curtis Coughlin II, MS, MARHGN Coordinator
MARGHN c/o Christiana Health Care Services
Genetics Room 1988
4755 Ogletown-Stanton Road
P.O. Box 6001
Newark, DE 19718
National Society of Genetic Counselors
233 Canterbury Drive
Wallingford, PA 19086-6617