Down syndrome is a genetic disorder in which a person has an extra chromosome. The medical term for having an extra copy of a chromosome is 'trisomy'. This syndrome is also called 'Trisomy 21'. Although the exact cause of the genetic difference cannot be determined, these children have some distinctive characteristics. This syndrome can cause physical growth retardation, a characteristic facial appearance and moderate mental retardation. It can be detected by routine tests during pregnancy and at birth.
Experts say that children with Down Syndrome should be intervened before the age of 1 and that it is not right to start intervention after the age of 1. The United Nations (UN) has designated March 21 as Down Syndrome Awareness Day.
What are the Symptoms of Down Syndrome?
As with all genetic syndromes, individuals with Down Syndrome may have some typical appearance, behavioral and physical symptoms. One of the most important purposes of diagnosing a genetic syndrome is to ensure that families are informed in advance about the common disorders specific to the syndrome and have the necessary follow-up and controls in a timely manner. This way, early diagnosis and intervention can minimize the negative effects of medical problems.
Some common physical characteristics of Down syndrome are:
- A flat face, a flat nose bridge
- Upward-slanted almond-shaped eyes
- Short neck
- Small ears
- Tendency of the tongue to hang out
- Small white dots in the iris (colored part) of the eye
- Small hands and feet
- A single line across the palm (palmar wrinkle)
- Poor muscle tone or loose joints
- Shorter in stature as children and adults
What are the Risk Factors for Down Syndrome?
The prevalence of Down Syndrome in the general population is approximately 0.1%. Although it is the most common genetic cause of intellectual disability, there is no rule that every individual with Down Syndrome will have intellectual disability. As the age of the mother increases, the risk of Down Syndrome in the future baby also increases. In this respect, mothers aged 35 and over are at a significantly higher risk.
What are the Common Health Problems in Down Syndrome?
Most people with Down syndrome have common facial features and no other major birth defects. However, some people with Down syndrome may have one or more major birth defects or other medical problems. Common physical illnesses in these children include some heart disease, thyroid disease, intestinal disorders and some psychiatric conditions, and require intermittent visits to the doctor.
Families should have their children's medical check-ups done on time, consult physicians for detailed information, have their physical and mental development levels determined as early as possible, and start early education programs.
Some of the more common health problems among children with Down syndrome are as follows:
- Hearing loss
- Obstructive sleep apnea, a condition in which a person temporarily stops breathing during sleep
- Ear infections
- Eye diseases (blurred vision, cataracts)
- Heart defects present at birth
Down Syndrome Treatment
Down syndrome is an incurable and lifelong genetic disorder. However, services early in life often help babies and children with the syndrome to develop their physical and mental abilities. Many of these services focus on helping children with the syndrome develop their full potential. Experts emphasize that it is very important to start education for these children as early as 0 months. Special education programs can be effective in developing and improving the baby's sensory, social, motor, language and cognitive skills.
Recommendations for Families with Down Syndrome
Unfortunately, as with all diseases with typical presentations, these individuals may also be subjected to disturbing looks and behaviors from the environment. When the families of individuals who are exposed to prejudiced and exclusionary attitudes cannot cope with this problem, they may try to alleviate this problem by isolating themselves and their children from society. However, it is precisely at this point that problems may increase.
Not all individuals with Down syndrome have mental retardation. In our country and in the world, many individuals with Down Syndrome who undergo a good education process can take part in working life and in the jobs they are skilled in. They are friendly and loving individuals with very good social skills.
In order to support the development of individuals with Down syndrome, activity planning should be made by taking into account the developmental capacities, needs and wishes of the individual and an increase in the quality of life should be ensured. Independence in daily life should be targeted with meaningful and purposeful activities. At this point, families should support the developmental stages of their children in line with the experts and trainers of individuals with Down syndrome. They should organize various activities for muscle development, sensory development, language development, communication, social and cognitive development in parallel with the age and developmental level of the individual.
In this whole process, families should allow their children to express themselves. While providing this opportunity, the family should communicate effectively with their child by using clear, clear and short expressions, offering options for their child to make choices, choosing words carefully while speaking, staying calm and supporting the words used with their behaviors. The family's time and effort to help their children acquire appropriate behaviors will accelerate the process. It is very important for them to develop a positive perspective on their children and to establish daily routines in their lives. All planning and activities should be carried out in line with the wishes and needs of the families without being stubborn with their children and without going beyond the daily routines as much as possible, which will support the development process.
Multidisciplinary Approach to Down Syndrome at ÇEGOMER
In the treatment, therapy and education planning of individuals with Down syndrome in the programs of the center; With the staff of child adolescent psychiatrist, special education specialist, sports / movement training specialist, clinical psychologist, speech and language therapist and specialist occupational therapist, it is aimed to provide communication and interaction skills, play skills, learning preparation skills, parental relationship, daily life skills such as nutrition, sleep, toilet, gross motor skills, fine motor skills and sensory acquisition.