Approximately one in 700 babies is born with Down syndrome, making it the most common chromosomal condition in the United States. Often, Down syndrome is diagnosed in utero during routine ultrasounds or genetic testing like amniocentesis. If not, the condition will be diagnosed at birth.
You might be wondering if you can recognize the signs of Down syndrome in your child. In most cases, there are some telltale physical and developmental characteristics that point to the condition. Keep reading to learn about common signs of Down syndrome, potential complications, and more.
What Is Down Syndrome?
In most cases, people with Down syndrome have an extra chromosome—specifically chromosome 21. This type of Down syndrome is called trisomy 21. Less commonly, an extra chromosome 21 will attach to a different chromosome (translocation Down syndrome), or an extra chromosome 21 will be present in only some cells (mosaic Down syndrome). Any form of Down syndrome alters the development of the body and brain.
Physical Signs of Down Syndrome
People with Down syndrome tend to have recognizable physical characteristics, while also looking like their own family members, says Emily Jean Davidson, MD, MPH, clinical director of the Down syndrome program at Boston Children's Hospital.
Physical traits vary between individuals, but here are some common Down syndrome features:
Flattened face, which is especially apparent on the nose and side profileAlmond-shaped eyes that slant upwardLow muscle toneEnlarged tongueShort statureSmall head, mouth, ears, hands, fingers, and/or feetShort neckLoose joints and increased flexibilityWhite spots on the irises of the eyeA deep crease that cuts across the palm (palmar crease)Curved pinky finger4 Factors Associated With Down Syndrome
Developmental Characteristics of Down Syndrome
Babies born with Down syndrome have an extra copy of chromosome 21, which disrupts typical mental and physical development, says Amy Houtrow, MD, PhD, medical director of Children's Hospital of Pittsburgh of UPMC's Rehabilitation Institute and member of the American Academy of Pediatrics (AAP) Council on Children with Disabilities.
While you can expect your baby to reach the same milestones as their peers—rolling over, walking, and talking—they will do so at a delayed pace due to their lack of muscle tone. But, rest assured, they will meet these milestones in their own time.
Here's a general overview of when babies with Down syndrome may meet developmental milestones, according to the National Down Syndrome Society.
Having a responsive smile: 1-5 months oldSitting independently: 6-36 months oldCrawling: 8 to 22 months oldStanding up: 1 to 3.25 years oldSaying their first word: 1 to 4 years oldWalking alone: 1 to 4 years oldDrinking from a cup without assistance: 12-32 months
Behavioral Characteristics of Down Syndrome
Some evidence suggests that babies with Down syndrome tend to be social and engaging, relying on non-verbal cues for communication. Many are strong visual learners that grasp concepts a little easier when they're presented visually. Your child might grasp the concept of reading sooner than expected‚ and you may also notice them talking to themselves frequently.
If your child has Down syndrome, they might be strong-willed and impulsive in their words and actions. They might be prone to temper tantrums, too, beginning at three to four years of age.
That said, it's important to remember that although babies with Down syndrome may have similarities, they also are unique individuals. For this reason, it is important to avoid making assumptions about your baby or labeling them in some way.
What Toddler Social Development Looks Like: Ages 1 and 4
Opportunities for Early Intervention
Down syndrome affects kids' ability to learn in different ways. Most children have mild to moderate intellectual impairment, and they tend to acquire new skills slowly, explains Kenneth Rosenbaum, MD, founder of the division of genetics and metabolism and co-director of the Down Syndrome Clinic at Children's National Medical Center in Washington, D.C. Speech and language skills may take longer than normal to form.
Because the first years of life are so critical for a child's future development, all babies born with Down syndrome are eligible for free early intervention services via the federally mandated Individuals with Disabilities Education Act (IDEA). These include:
Physical therapy to bolster motor skills and improve muscle toneSpeech-language therapy to heighten listening and speaking skills, as well as help with swallowing problemsOccupational therapy to help children master life skills such as feeding and dressing themselves, opening doors, and holding crayons and pencils
Dr. Rosenbaum adds that some children with Down syndrome enroll in special education classes—but others thrive in mainstream classrooms. Your child's ideal academic placement will depend on their specific symptoms and the academic options and resources available to them. Either way, your child will keep learning throughout their life with proper support and education.
Down Syndrome Risks and Complications
Infants with Down syndrome are at risk for other health problems, which can add to the complexity of newborn care. Here are some common Down syndrome complications and what to do about them.
Heart defects
About half of infants born with Down syndrome have a heart defect. Some heart conditions are identified prenatally during ultrasounds, and most of t hem can be corrected with surgery after birth.
Obstructive sleep apnea
Children with Down syndrome often have an enlarged tongue with poor muscle tone. When they sleep, their tongue may fall into the back of the throat. This can lead to obstructive sleep apnea, a condition that causes someone to stop breathing for very short periods of time. As many as 76% of children with Down syndrome suffer from obstructive sleep apnea (enlarged tonsils and adenoids are also to blame) compared to 1% to 4% of the rest of the population.
Sleep apnea isn't typically a problem for infants, but watch for signs of it as your child grows; these include snoring, restless sleep, gasping noises, frequent night awakenings, and daytime drowsiness. Because of the high risk for apnea, the American Academy of Pediatrics (AAP) recommends that all children with Down syndrome have a baseline sleep study by age 4.
Hearing loss
Your baby may have narrow ear canals and be prone to ear infections. To ensure that your baby's hearing isn't impaired, the AAP also recommends hearing screenings every six months starting at birth and continuing to age 3 or 4 (after which testing should be done annually).
Vision problems
More than half of people with Down syndrome have some type of eye condition. In infants, the problems can range from mild (blocked tear ducts) to serious (cataracts). Even children with no known vision problems should see a pediatric ophthalmologist every one to two years to ensure proper care in case any issues arise.
Gastrointestinal conditions
Hirschsprung disease, an intestinal nerve condition that makes it difficult to expel stools, affects some infants with Down syndrome. Your baby also has a higher risk for obstructions of the small intestines (which leads to severe vomiting); an improperly connected windpipe and esophagus (this causes frequent choking during feedings); and a closed anal opening. Surgery is required for any of these conditions.
Malfunctioning thyroid
The thyroid gland doesn't function properly in some children with Down syndrome. Your baby will be screened for hypothyroidism at birth and at least every two years. If their thyroid is malfunctioning, medication can help.
People with Down syndrome are also more prone to immune disorders, infections, dementia, leukemia, obesity, and blood conditions, among other medical concerns. Your child's pediatrician will screen your child for any medical concerns and come up with a treatment plan for any conditions they have.
The Bottom Line
Even though these potential health issues may sound scary, all are treatable and early intervention is very effective at improving health, increasing skills, and promoting healthy development. Seek out support from loved ones as well as your community. Connecting with other families who have children with Down syndrome can also be beneficial, as can accessing local services and resources.
A baby born now with Down syndrome can expect to lead a full and healthy life. In fact, according to the Centers for Disease Control and Prevention (CDC), persons with Down syndrome lived to be about 10 years old in 1960. Several decades later, In 2007, the average age has increased to 47 years old. With your love and support, your baby can thrive just like any other.
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