This genetic difference, the cause of which has not yet been determined, is manifested by the presence of typical symptoms such as a typical facial feature, almond eyes, low muscle density, a low tongue, a cleft palm, and wideness. between the big toe and the second toe, sometimes together, sometimes several. Children with Down syndrome also have congenital heart diseases.
Down syndrome usually causes mild to moderate intellectual disability. a child with Down syndrome. From birth, she needs special support that will enable her to reveal her current potential and prepare her for life.
It is important that families and professionals dealing with these children initiate and maintain this support as early as possible.
Improved medical care and follow-up, education of families, and social acceptance of these children have increased. Children with Down syndrome today are better equipped than in past years.
Women over the age of 35 have an increased risk of Down syndrome and other chromosomal abnormalities. While the probability of giving birth to a child with Down syndrome for a 20-year-old mother is 1/1441, this risk increases to 1/959 at 30 years old, 1/84 at 40 years old, and 1/44 at age 40 or 50 years old.
A mother who previously gave birth to a child with Down syndrome is more likely to have a child with this syndrome again.
Physical Symptoms of Down Syndrome
- little hands and feet
- shorter stature than his peers.
- poor muscle tone
- A single transverse line on the palms
- The distance between the 1st and 2nd toes on the foot is greater than normal.
Cognitive and behavioral symptoms of Down syndrome
- Delays in speech and language development
- Delay in crawling and walking skills
- attention problems
- sleep difficulties
- Stubbornness and tantrums
- Delay in toilet training
How is Down syndrome diagnosed?
Down syndrome can be detected with routine screening and diagnostic tests during pregnancy. The first sign of Down syndrome occurs at 11–14 days of pregnancy. It can be seen with an ultrasound, and blood tests should be done between weeks.
Fetal height, nuchal translucency, and other anomalies that can be noticed at this stage are examined by ultrasonography. Two proteins, PAPP-A and bHCG, are also controlled in maternal blood. The sensitivity of this test, known as the double test, to detect Down syndrome is 85%. Risk is calculated by evaluating all results.