Trisomy 21 Down Syndrome: Characteristics and Risk Factors
Trisomy 21 is a chromosomal abnormality that affects about one in 800 children at birth. It is the leading cause of mental handicap in children. Origins, characteristics, management, key issues for a better understanding of Trisomy 21 down syndrome.
Small return to the past…
In 1959, a team of French doctors, including Professor Lucas reveals for the first time the presence of an extra chromosome on pair 21.
It was not until 1965 that the term of Trisomy 21 is accepted by the World Health Organization.
Origin of trisomy 21 down syndrome and risk factors
Trisomy 21 is a chromosomal abnormality. It affects both girls and boys.
Trisomy 21 in the term “tri” meaning “three” and “some” means “chromosome”, that is to say “three chromosomes 21. This extra chromosome will cause disorder in the construction of the fetus. It usually comes from an error in the manufacture of the egg.
The two main risk factors are age of mother at pregnancy (over age, the higher the risk is too) and the presence in the family of a person with Trisomy 21.
The screening of Trisomy 21 is now routinely offered to pregnant women. It can be done in the first trimester of pregnancy, as recommended by the High Authority of Health.
The diagnosis is made after consideration of the karyotype, that is to say the chromosomes.
Features of Trisomy 21
We must understand that there is no “portrait-robot” kind of a child with Trisomy 21 down syndrome. Everyone is different.
Thus a large difference exists at all levels, whether one speaks of psychomotor development, intellectual or language.
However, researchers identified a number of characteristics that may be present. Only a few will be cited:
- Mental retardation of varying degree (IQ 20 to 80 with a mean of 50);
- Psychomotor retardation (sitting, walking …)
- Muscular hypotonia;
- Small size;
- Flat face, round with a broad nose;
- Small mouth with a tongue that tends to emerge;
- Small teeth delayed appearance…
Support the child with a trisomy 21
The management is first medical, because of the presence in 40% of cases of cardiac malformation, diagnosed and operated upon the birth of the child.
Because of delays in psychomotor development, a support is often advocated in psychomotor, like tracking for speech LI orally or in learning to read.
In any field, the early intervention is important to allow better development of the child and may begin in the first days of life.
This concerns both the child’s parents, whose role is essential and will have to overcome the announcement of disability and understand how to help their child.
Schooling
The child may be enrolled in a Special Class (CLIS: class or school integration UPI: educational unit of integration) or ordinary, helped by a school career.
Learning is to adapt to the difficulties of children whose progress is slower and require more repetitions and exercises to lead to success.
The Partnership between all stakeholders is essential.
