Down syndrome

Down syndrome is a genetic chromosomal syndrome that is attributed to extra chromosome number 21 (hence its scientific name Trisomy 21), so a person with Down syndrome has 47 rather than 46 chromosomes (which is the normal number). This addition causes a range of typical physical and functional features.
The external appearance of children with Down syndrome is similar due to the structure of the skull and similar facial features, and they usually suffer from various developmental disorders, such as varying degrees of intellectual disabilities, developmental delays in language and speech, etc. Furthermore, they may suffer from various health problems, such as heart defects, digestive tract defects, immune system dysfunction, etc.
In recent years, tremendous progress has been made in various therapeutic methods that allow children with Down syndrome to achieve achievements that help them integrate into society.

Features of Down syndrome

The chromosomal disorder has typical physical features, including:

• Flat face, particularly the bridge of the nose.
• Slanted eyes.
• Short neck with surplus skin in the rear section of the neck.
• Small ears.
• Bulging protruding tongue.
• Broad hands with short fingers.
• Low muscle tone or loose joints.

In addition, most children with Down syndrome have developmental delays, but with the help of early educational intervention, improvement and progress along the orderly developmental spectrum may be achieved.

Other health problems and defects accompanying Down syndrome

Infants and children with Down syndrome face increased risk of several problems, defects, and diseases, so it is important to maintain close medical monitoring in the relevant field. These are the most common problems:

• Hearing loss.
• Obstructive sleep apnea.
• Ear infection.
• Eye diseases.
• Hypothyroidism.
• Congenital heart defects.
• Sleep disorders.
• Dental and periodontal problems
• Cervical spine disorders.

Incidence and risk factors

Down syndrome is generally not a hereditary disease but attributed to an error in chromosome division that occurs even before fertilization takes place between the sperm and the egg. The cause of this condition is still unknown, and there is currently no way to prevent it. It is therefore important to emphasize to parents of children born with Down syndrome that they are not to blame for their baby being born with a disability, and that nothing they did or did not do caused it.
It is important to know that every woman of any age can give birth an infant with Down syndrome. Studies show that the level of risk is strongly related to the woman’s age. For example, at age 20, the risk of giving birth to a baby with Down syndrome is approximately 1 in 1,500, as compared to age 40, when the risk increases to about 1 in 100 (1%). This is apparently attributed to the fact that the system responsible for dividing chromosomes in sex cells "ages" over time, resulting in an increased risk of abnormal cell division.

Treatment

Down syndrome cannot be cured but there are a variety of treatments that can improve the health, quality of life, and abilities of children. Treatment and medical monitoring are usually adjusted based on the physical condition and health problems. At the same time, every child with Down syndrome should be referred to the Child Development Center for monitoring and treatment . The earlier that the treatment and support begins, the greater the chance of living an independent life later on. 

Family coping

Parents of children with special needs encounter a variety of challenges, which can usually begin from the moment of birth, with the emergence of feelings such as sadness and guilt. When the syndrome was diagnosed during pregnancy and the parents chose to give birth to the baby, they usually arrive at the moment of birth slightly more mentally prepared and accept reality. When the syndrome is discovered only after birth, parents are more likely to experience feelings such as anxiety, anger, depression, and uncertainty.
Raising a child with special needs is a challenge that requires effort. One way to make the process easier is to use sources of support such as the Yated Organization (hebrew) (Organization for Children with Down Syndrome) and the Tasmotek Association (hebrew), which work for families with Down syndrome, helping them cope and assisting them with a variety of issues. If coping causes challenges and problems within the family, professional help and support, personal and couples therapy, and parental guidance should be sought.