Down syndrome
Down syndrome Or Down syndrome is a congenital genetic disease caused by an abnormality in cell division of the whole or part of an extra pair of chromosome 21. Resulting in impairment of intelligence level. have delayed development Has a unique body and face. Including abnormalities in various work systems in the body, fetuses and mothers are all at risk of developing Down syndrome. Pregnant mothers should undergo infant screening for Down syndrome (NIPT). Newborns diagnosed with Down syndrome should be closely monitored by Expert doctors in order to plan the future for the baby.
Down syndrome is caused by what?
The most common causes of Down syndrome is caused by abnormal division (non-disjunction) of chromosome 21 (trisomy 21) during meiosis, which divides one extra piece in every cell of the body. However, no other causes such as behavior or environment have been found that cause Down syndrome. Normally, human chromosomes consist of 46 pairs of 23 chromosomes, 1 from the father’s side and 1 from the mother’s side (sex chromosomes). Male chromosomes equal to 22+xy=23 and female chromosomes equal to 22+xx=23)
Chromosomes contain genetic material or DNA that controls genetic characteristics that are passed on from parents to children, such as height, skin color, eye color, and hair texture. or appearance abnormal division This causes an increase in the number of chromosomes from 46 to 47, resulting in various abnormalities in the body of the fetus and mother. The causes of Down syndrome are as follows:
The presence of an extra pair of chromosome 21 in every cell of the body (Trisomy 21). It is an abnormality in the division of chromosomes in sperm cells or egg cells during fertilization in the mother’s womb. It is the most common cause of Down syndrome, accounting for 95 percent of all causes.
The 21st pair of chromosomes switches positions with other chromosomes. (Translocation Down syndrome) Caused by having a part Or one of the other pairs of chromosomes breaks while creating reproductive cells. And there is a movement to change the position of that chromosome with the 21st pair of chromosomes (Robertsonian translocation), resulting in an excess number of the 21st pair of chromosomes.
The extra chromosome 21 in only some cells in the body (Mosaic Down syndrome) It is when the number of chromosomes in every cell in the body is not equal (2 cell lines), with both a normal number of 46 chromosomes and an abnormal number of 47 chromosomes. In infants with Down syndrome An extra chromosome 21 will be found, which is an abnormality that occurs from the division of chromosomes in cells after conception in the mother’s womb. and is the most rare cause of Down syndrome.
What are the symptoms of Down syndrome?
Symptoms of children with Down syndrome vary in severity and severity. This results in physical development, learning, and behavior that is different from normal children. Some children with Down syndrome are healthy. While some people have serious health problems, such as congenital heart disease. or thyroid dysfunction Children with Down syndrome have distinctive, clear, and similar facial and body structures as follows:
Has a small head, small face, small ears, has a flat nose bridge, has a flat back of the skull, has slender eyes, the corners of the eyes slant upwards, thick eyebrows, and the iris may have white spots. lips open Has a large tongue stuck in the mouth, speaks slowly, cannot speak clearly, has a short neck, short arms, short legs, short feet, and is less than average in height. has a flooded shape The body is quite soft. Not very muscular There is low muscle tension. The distance between the nipples is closer than normal. Different from other children have short fingers The pinky finger points inward towards the thumb. The hands are wide with a single palm line. Draw across the middle of the palm. They have a slight to moderate level of intelligence. They are different. They have a cheerful personality, good mood, smile easily, laugh easily.
Down syndrome screening What is the method?
Screening for both high-risk types of Down syndrome or low risk Including other genetic abnormalities in pregnant mothers is extremely important. The examination can be done starting in the first trimester. Or during the first 3 months of pregnancy or during 12-16 weeks of pregnancy. There are several methods of screening for Down syndrome, which vary according to the mother’s gestational age. Effective methods for screening for Down syndrome There is a method as follows.
Screening for Down syndrome in infants from mother’s blood. (Non-invasive prenatal testing) orNIPT test It is a screening test for chromosomal abnormalities in fetuses of mothers aged 12-16 weeks by drawing the mother’s blood to test a blood sample that contains genetic material from the child’s placenta (Cell-free DNA). The NIPT test is a test. effective pregnancy Can detect trisomy abnormalities of chromosomes 21, 18, and 13 with an accuracy of up to 99%. It is a test that is safe for the fetus. You can wait to hear the test results quickly within 2 weeks and you can also know the gender of your baby in the womb.
Ultrasound examination It is an examination of the organ structure of a fetus aged 12-16 weeks to detect abnormalities. By measuring the thickness of water that accumulates on the nape of the baby’s neck (Nuchal translucency: NT) and the bone around the baby’s nose. It is a safe examination. You don’t have to wait long for results. and has approximately 80% accuracy in ultrasound examination Your doctor may request additional blood work to check for biochemicals. or blood markers for diagnostic accuracy
Amniocentesis to check for abnormal chromosomes (Amniocentesis) It is an analysis of the baby’s chromosomes from amniotic fluid while the mother is 16-20 weeks pregnant or during the second trimester of pregnancy. This is when the amount of genetic material in the amniotic fluid is high. Used to confirm chromosome abnormalities when screening results or ultrasound results are abnormal.
Down syndrome diagnosis How is it done in newborns?
Doctors initially diagnose Down syndrome in newborns by considering clinical features such as skull structure, facial appearance, or muscle tightness. Then there will be an in-depth examination by drawing the baby’s blood to analyze the chromosomes (Karyotype), which is a count of the number, looking at the shape and arrangement of all 46 chromosomes to confirm the diagnostic test results. If there really is an extra 21st pair of chromosomes, what will happen? It confirms Down syndrome in the baby.
Down syndrome treatment What is the method?
At present, Down syndrome is a group of symptoms for which no cure has been found. Taking children for examination from birth and receive systematic treatment as soon as Down syndrome is confirmed. It will help children develop the skills necessary for daily life. and can adapt to live together with others in society The treatment focuses on stimulating all-round development, both physical and mental, to help children achieve their potential.
own highest Down syndrome treatment There is a method as follows.
Physical therapy and occupational therapy (physical and occupational therapy) to practice muscle movement, speech therapy, speech therapy, and communication development training for children to develop according to their age. Participating in the school’s special education program To practice self-help Practice interacting with others. Getting treatment for complications or other co-morbidities such as congenital heart disease or thyroid hormone deficiency Wearing eyeglasses to correct vision problems or wearing hearing aids for people with hearing problems
What are the complications of Down syndrome?
congenital heart disease This may require surgical treatment in some patients. hypothyroidism cause weight gain Have a slow response Feeling drowsy Diseases in the digestive system such as constipation, acid reflux, diseases and impairments in the eyes and vision such as nearsightedness, farsightedness, strabismus, conjunctivitis, eye infections, hearing impairment from ear infections. Otitis media, pus in the ear, or auditory nerve deterioration. High risk of leukemia More than other children, autism causes developmental disabilities in communication, social skills, or repetitive behaviors, leading to a higher risk of Alzheimer’s disease.
Down syndrome prevention What is the method?
Preventing the risk of becoming pregnant with a child with Down syndrome, either high-risk or low-risk. Both young and old mothers is to undergo a health examination before marriage Or enter the prenatal care program with an expert gynecologist to screen for Down syndrome from the mother’s blood (NIPT test) and plan treatment if the fetus has Down syndrome.
Down syndrome, check early, know quickly, plan your child’s future.
At present, medical technology in screening and the diagnosis of Down syndrome is highly accurate. Knowing abnormalities in advance before birth Helps parents plan care together with the medical team appropriately. The doctor will provide integrated treatment, both physical and mental, along with treatment for intellectual disabilities. and other skills necessary for daily life to encourage children to have well-rounded development suitable for their age.
When receiving appropriate and continuous care by a team of medical experts and parents parents at home including teachers at school Many children with Down syndrome are able to attend classes with normal children. And with love, understanding, care, and constant encouragement, children with Down syndrome will be able to live happily in their daily lives and grow up in society.
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Published: 20 Oct 2023
2023-10-24 07:03:39
#syndrome #syndrome #symptoms #treatment
