Trisomy 21, also known as Down syndrome, is a genetic anomaly that affects many families. This genetic condition results from the presence of an extra chromosome 21 in the cells. Today, let's speak openly about this reality so we can better understand and support it.
What exactly is trisomy 21?
Contrary to popular belief, trisomy 21 is not an illness but a genetic anomaly. Our genetic makeup is normally composed of 23 pairs of chromosomes: 23 come from our mother and 23 from our father.
Sometimes, during the formation of the egg or the sperm, a problem occurs. The reproductive cells then contain 24 chromosomes instead of 23. At fertilization, the embryo therefore has 47 chromosomes instead of the usual 46. This extra chromosome on pair 21 causes Down syndrome.
The characteristics of trisomy 21
Physical signs from birth
People with trisomy 21 show common characteristics from birth. First, doctors observe an overall decrease in muscle tone and excessive elasticity of the ligaments.
Then, certain physical features appear: a flattened nape, a round face, a small nose and slanted palpebral fissures. The hands and feet are generally short and small, often with a single palmar crease. In addition, growth is slowed and adult height stays below average.
Psychomotor development in trisomy 21
Psychomotor development shows a delay that varies from one person to another. Sometimes, an intellectual disability accompanies this delay. However, these characteristics vary considerably from one person to the next.
Environment, education and learning play a decisive role in each child's progress. This is why family support becomes essential to encourage their development.
At La Sultane, we extend this reflection on those around us and on everyday life with our articles devoted to everyday emotional hygiene and to the health benefits of laughter.
Medical complications associated with Down syndrome
Common malformations
People with trisomy 21 present certain malformations more frequently than the general population. In particular, cardiac and digestive anomalies call for special monitoring.
The risk of congenital cataract and keratoconus also increases. Although these malformations remain rare, their seriousness makes screening from birth necessary.
Recurrent health problems
Several health problems affect people with Down syndrome more frequently. On the one hand, they show a heightened sensitivity to infections and ENT conditions. Frequent ear infections, sometimes painless, can lead to hearing loss if they are not properly treated.
On the other hand, difficulties with swallowing and chewing are common. Vision problems such as myopia, strabismus or hyperopia also appear more often.
Specific complications according to age
During the first year, a particular form of epilepsy called West syndrome may appear. This condition often stays masked by muscular hypotonia. The seizures take the form of spasms of the trunk, sometimes mistaken for colic.
Ligament hyperlaxity causes various joint deformities: scoliosis, a hunched back, excessive arching or dislocations. In addition, chronic reflux and constipation are common, as are hypothyroidism, diabetes and gluten intolerance.
Diagnosis and medical follow-up of trisomy 21
Prenatal diagnosis
Prenatal screening for trisomy 21 takes place between 11 and 13 weeks of amenorrhea. A blood test and an ultrasound, which can be carried out on the same day, make it possible to assess the risks.
The maternal blood markers, combined with the ultrasound data and the mother's age, calculate the probability of trisomy 21. If the risk exceeds 1/250, an amniocentesis confirms the diagnosis through the study of the chromosomes.
Tailored medical follow-up
Geneticists make the initial diagnosis, and then the treating physician ensures regular follow-up. Vaccinations follow the usual schedule, with no particular contraindication linked to Down syndrome.
Nevertheless, each child needs personalized medical follow-up according to their development. This follow-up includes the ENT, ophthalmological, cardiological, neurological and orthopedic specialties. Finally, social care and rehabilitation (physiotherapy, psychomotor therapy, speech therapy) complete the support.
Trisomy 21 calls for special attention to pain management, because people with the condition find it difficult to express and locate it.
With the right support, people with Down syndrome can flourish and develop their abilities.
