What are the symptoms of Down syndrome?

Currently, there are more and more children with Down syndrome, which makes many parents worried and anxious. However, not everyone understands this disease, so naturally they don’t know how to effectively prevent this phenomenon. Therefore, in response to this problem, we would like to give you a detailed introduction to the symptoms of children with Down syndrome.

Symptoms and signs of Down syndrome in children

The children have obvious special facial features at birth, and often show drowsiness and feeding difficulties. Their mental retardation becomes gradually obvious with age, with an IQ of about 25 to 50. Their motor and sexual development are delayed. The children have wide eyes, low nasal root, small palpebral fissure, upward slanted eyes, epicanthus, small external ears, fat tongue that often sticks out of the mouth, drooling, short stature, smaller head circumference than normal, short anterior and posterior diameters of the head, flat occipital head, short neck, loose skin, bone age often lags behind age, delayed tooth eruption and often misplaced, fine and soft hair, mostly centered hair whorl, late closure of the anterior fontanelle, a third fontanelle in the midline of the parietal occipital, short limbs, joints that can bend excessively due to loose ligaments, thick and short fingers, poor development of the middle phalanx of the little finger causing the little finger to bend inward, short phalanges, and distal displacement of the trifurcation of the palm. It is common to see through palm lines and straw sandal feet. About half of the children have arched dermatoglyphics on the ball of the big toe.

Children with Down syndrome often have other malformations such as congenital heart disease. Due to low immune function, they are susceptible to various infections. The incidence of leukemia is 10 to 30 times higher than the normal rate. If they survive to adulthood, they often develop symptoms of senile dementia after the age of 30. The main characteristics of Down syndrome are shown in Table 2.

Although the disease's special facial features, hand characteristics and mental retardation can provide important clues for clinical diagnosis, the establishment of the diagnosis must rely on chromosome karyotype analysis. Therefore, chromosome karyotype analysis and FISH technology are the main laboratory examination techniques for Down syndrome. These two examinations also have positive significance for the prognosis estimation of mosaic Down syndrome. Due to the great difference in the phenotypes of children with mosaic malformations, which can range from normal or near-normal to typical clinical manifestations, their prognosis mainly depends on the percentage of normal cell lines in the children's somatic cells. Therefore, understanding the ratio of normal karyotype cells to 21-trisomy karyotype cells in the somatic cells of mosaic children can guide the children's families and society to educate them according to their specific circumstances.

Because only when we understand these symptoms can we promptly and effectively discover whether the children around us have these symptoms, and actively take treatment and intervention measures. This is also the fundamental way to reduce the harm of Down syndrome. Every parent or pregnant mother should pay attention to it.