Etiology and clinical manifestations of Down syndrome

Down syndrome is caused by chromosomal abnormalities. Children with Down syndrome will have obvious and special facial features and often feel sleepy and need to be fed. It usually occurs in infants. Male children will not grow anymore after reaching puberty. Sometimes there will be other deformities of varying degrees. Children with Down syndrome have low immunity, so pay more attention to preventing infections.

1. Causes

In 1866, Dr. John Langdon Down first gave a complete description and published the typical signs of Down syndrome, including the similar facial features of children with this syndrome. Therefore, the syndrome was named Down syndrome after him. In 1959, it was confirmed that Down syndrome is caused by a chromosomal abnormality. Modern medicine has confirmed that the incidence of Down syndrome is related to the mother's age during pregnancy. It is an abnormality of chromosome 21, and there are three types: trisomy, translocation and mosaicism. Older pregnant women and aging eggs are important causes of non-disjunction.

2. Clinical manifestations

1. The children have obvious special facial features, such as wide-set eyes, low nasal root, small palpebral fissures, upward slanting eyes, epicanthus, small external ears, fat tongue that often sticks out of the mouth, and excessive drooling. He is short in stature, with a smaller head circumference than normal, short front and back diameters of the head, and a flat head with a flat occipital region. Short neck and loose skin. Bone age often lags behind age, and tooth eruption is delayed and often misaligned. The hair is fine and sparse. The anterior fontanelle closes late, and a third fontanelle may appear in the midline of the parietal-occipital area. The limbs are short. Due to loose ligaments, the joints can bend excessively. The fingers are thick and short. The middle phalanx of the little finger is underdeveloped, causing the little finger to bend inward. The phalanges are short, and the trifurcation of the palm is displaced distally. It is common to see through palm lines and straw sandal feet. About half of the children have arched skin lines on the ball of the big toe.

2. They often experience lethargy and difficulty feeding. Their mental retardation becomes increasingly apparent with age, with an IQ of 25 to 50. Their motor and sexual development are delayed.

3. Male babies with Down syndrome will not be able to reproduce when they grow up to puberty. Female babies with Down syndrome will have menstruation when they grow up and may have children.

4. Children with this disease often have other malformations such as congenital heart disease. Due to their low immune function, they are susceptible to various infections, and the incidence of leukemia is 10 to 30 times higher than normal. If they survive into adulthood, they often develop symptoms of Alzheimer's disease after the age of 30.

Treatment

Since children have low immunity, they should pay attention to preventing infection. If accompanied by congenital heart disease, gastrointestinal tract or other malformations, surgical correction may be considered.

Surgery can help correct Down syndrome. The child's condition is quite obvious externally, and the disease can be clearly seen in the face, body, and lifestyle habits. Even when the child grows up, he or she is prone to Alzheimer's disease and other diseases. The child should pay attention to preventing infection and take some surgical treatments to relieve pain if necessary.