Down's syndrome

1. It is easy to live with Down's syndrome. Yet there are a number of points that you as a mother should pay attention to. Children with Down syndrome run a higher risk of various diseases and abnormalities.

2. Down's syndrome is easy to live with. Yet there are a number of points that you as a mother should pay close attention to. This is because children with Down syndrome run a higher risk of various diseases and abnormalities.

1. One in 600 Dutch children is born with Down's syndrome. The abnormality is genetic and therefore cannot be cured. With good check-ups, the right training and a lot of support you can significantly improve the quality of life of a child with Down syndrome.

2. One in 600 Dutch children is born with Down's syndrome. The abnormality is genetic and therefore cannot be cured. Good check-ups, the right training and a lot of support can significantly improve the quality of life of a child with Down syndrome.

What is Down's syndrome?

1. Down's syndrome is the best known chromosal disorder. It is a birth defect that develops very early during pregnancy. Chromosomes are present all over the body, so the condition affects physical and mental properties.

Causes

1. Normally a human has 46 chromosomes. These chromosomes contain genes and these genes determine your characteristics. Each cell in the body contains chromosome 21 twice. If your child has Down syndrome, chromosome 21 is present three times per cell. Down syndrome is also called trisomy 21. A child with Down syndrome does not have 46 but 47 chromosomes. This happens in about 95 percent of children with Down syndrome. It could also be that part of another chromosome has settled on chromosome 21. This is called a translocation. This form of Down is hereditary. You cannot tell from the outside whether it is a trisomy or a translocation. Finally, there are children with Down's syndrome who have a mosaic. For example, ninety percent of cells are normal, but the remaining ten percent have number 21 three times in their nucleus.

2. Normally a human has 46 chromosomes. These chromosomes contain genes and these genes determine your characteristics. Each cell in the body contains chromosome 21 twice. If your child has Down syndrome, chromosome 21 is present three times per cell. Down syndrome is also called trisomy 21. A child with Down syndrome does not have 46 but 47 chromosomes. This happens in about 95 percent of children with Down syndrome. It could also be that part of another chromosome has settled on chromosome 21. This is called a translocation. This form of Down is hereditary. You cannot tell from the outside whether it is a trisomy or a translocation. Finally, there are children with Down syndrome who have a mosaic. For example, ninety percent of cells are normal, but the remaining ten percent have number 21 three times in their nucleus.

Diagnosis

1. If a child has Down syndrome, this can often be seen immediately after birth. The doctor always carries out a chromosome test. He looks at the blood. You can see and feel the characteristics of Down's syndrome. Babies with Down syndrome are often conspicuously floppy. They have a so-called â € ˜mongoloidâ € ™ eye position, a relatively flat bridge of the nose, small ears and a fold of skin on the neck.

2. If a child has Down syndrome, this can often be seen immediately after birth. The doctor always performs a chromosome test. He looks at the blood. You can see and feel the characteristics of Down's syndrome. Babies with Down syndrome are often conspicuously floppy. They have a so-called â € mongoloidâ € ™ eye position, a relatively flat bridge of the nose, small ears and a fold of skin on the neck.

Hands and feet

1. The hands are a bit coarser and the thumb is a little further away from the fingers. A four-finger line can often be seen in the handlines: the handline from the little finger does not run to the space between the index and middle fingers, but from the little finger to the space between the thumb and the index finger. This is also seen in five percent of the population and is therefore not typical of Down syndrome. The feet are also a bit coarser. The space between the big toe and the second toe is quite large. This remains clearly visible.

2. The hands are a bit coarser and the thumb is a little further away from the fingers. The handlines often show a four-finger line: the handline from the little finger does not run to the space between the index and middle fingers, but from the little finger to the space between the thumb and the index finger. This is also seen in five percent of the population and is therefore not typical of Down syndrome. The feet are also a bit coarser. The space between the big toe and the second toe is quite large. This remains clearly visible.

Deviations

1. A number of abnormalities can also occur in other children, but are very often present in Down's syndrome: A mild to severe mental disability. A congenital heart defect (about 45 percent of children with Down syndrome have this). Eye abnormalities such as myopia, strabismus and lens opacity. The thyroid gland is working too slowly or too quickly. Celiac disease, Hirschsprung's disease (a birth defect in the intestines) or a blockage in the small intestine. Local hair loss. Deafness. Recurring respiratory infections. Obstructive sleep apnea syndrome (OSAS). Orthopedic abnormalities such as flat feet. An increased risk of leukemia. Epilepsy. An increased risk of Alzheimer's later in life. Obesity.

2. A number of abnormalities can also occur in other children, but are very often present in Down's syndrome: A mild to severe mental disability. A congenital heart defect (about 45 percent of children with Down syndrome have this). Eye abnormalities such as myopia, strabismus and lens opacity. The thyroid gland is working too slowly or too quickly. Celiac disease, Hirschsprung's disease (a congenital anomaly of the intestines) or a blockage in the small intestine. Local hair loss. Deafness. Recurring respiratory infections. Obstructive sleep apnea syndrome (OSAS). Orthopedic abnormalities such as flat feet. An increased risk of leukemia. Epilepsy. An increased risk of Alzheimer's later in life. Obesity.

Treatment

1. There is no treatment for chromosomal abnormalities such as Down's syndrome. The deviation is there. You can, however, improve the quality of life. Children's physiotherapy treatments and preverbal speech therapy (for eating, drinking and swallowing problems) can help with this. Children with Down syndrome often suffer from frequent respiratory infections. This is caused by the immune and immune system working differently, by anatomical causes in the airways and by congenital abnormalities of the heart and blood vessels. It is important that children with Down syndrome are regularly monitored so that (respiratory) infections can be treated in time. The following examinations take place regularly in children with Down syndrome: Weight and height control, skull circumference. Thyroid function check. Celiac disease check. Eye check. Hearing check and examination by the ENT doctor. Is there a heart defect? Then a pediatric cardiologist will regularly check whether everything is going well.

2. There is no treatment for chromosomal abnormalities such as Down's syndrome. The deviation is there. You can, however, improve the quality of life. Children's physiotherapy treatments and preverbal speech therapy (for eating, drinking and swallowing problems) can help with this. Children with Down syndrome often suffer from frequent respiratory infections. This is caused by the immune and immune system working differently, by anatomical causes in the airways and by congenital abnormalities of the heart and blood vessels. It is important that children with Down syndrome are regularly checked so that (respiratory) infections can be treated in time. The following examinations take place regularly in children with Down syndrome: Weight and height control, skull circumference. Thyroid function check. Celiac disease check. Eye check. Hearing check and examination by the ENT doctor. Is there a heart defect? Then a pediatric cardiologist will regularly check whether everything is going well.

During pregnancy Some mothers have an increased risk of having a baby with Down syndrome. That is why research is sometimes already carried out during the pregnancy period. So-called flake tests or water punctures are performed on pregnant women aged 36 years or older. Any pregnant woman can request such a NIPT test if she wishes. After birth, blood is taken for a chromosome test as confirmation. The results will be available after a few days. This article has been approved by Carole Lasham, general pediatrician at the Tergooi Hospital in Blaricum. Her focus areas are lung diseases and allergies, but she also has a lot of experience with crying babies and knowledge about Down syndrome. Don't miss anything anymore?

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