Developmental monitoring of children with Down syndrome
Down syndrome is a chromosomal abnormality with an incidence of 1/800 births.
Thanks to prenatal monitoring, early diagnosis of the syndrome is possible. It is due to the existence of an extra autosomal gene 21. These children have 47 instead of 46 chromosomes in their cells. In a few cases, there is no supernumerary gene, but rather excess genetic material on one of the existing autosomal chromosomes.
The main features of the syndrome are:
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Facial features (Broad bridge of nose, almond-shaped, slanted eyes, small mouth with protruding tongue)
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Single palmistry line
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Short stature
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Hypotonia and loose joints
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Fragility in infections due to low immunity
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Congenital heart diseases
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Occurrence of leukemia
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Frequent occurrence of autoimmune diseases (e.g. hypothyroidism, celiac disease)
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Mild or moderate mental retardation.
Due to the above characteristics, children with Down syndrome often need close developmental monitoring and intervention.
Hypotonia and joint laxity lead to delayed onset developmental milestones of gross and fine motor skills. For this reason, it is often necessary to support them with physical therapy and occupational therapy intervention.
Due to frequent upper respiratory infections, e.g. otitis, it is necessary to monitor hearing as well as perceptive and expressive speech.
This makes speech therapy intervention often necessary.
These children may have behavioral difficulties or develop an autism spectrum disorder. For this reason, psychoeducational intervention is often necessary.
Finally, family counseling plays an important role in the care of children and their families.
As these children grow, it is necessary to assess their mental potential and the need for special education and parallel support in the school context.
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