2023-10-24 09:03:39
Newborns with Down Syndrome: Causes, Symptoms, and Treatment
Down syndrome, also known as Trisomy 21, is a congenital genetic disease that affects individuals due to an abnormality in cell division involving an extra pair of chromosome 21. This results in an impairment of the intelligence level and delayed development. People with Down syndrome also have unique facial and bodily features, as well as abnormalities in various bodily systems. It is important for pregnant mothers to undergo infant screening, such as Non-Invasive Prenatal Testing (NIPT), to detect Down syndrome.
The most common cause of Down syndrome is the abnormal division known as non-disjunction of chromosome 21 during meiosis. This results in an extra chromosome in every cell of the body, causing an increase in the total number of chromosomes from 46 to 47. Other causes, such as behavior or environment, have not been found to cause Down syndrome.
Symptoms of Down syndrome can vary in severity, affecting physical development, learning, and behavior. Some children with Down syndrome may have congenital heart disease or thyroid dysfunction. They also exhibit distinct facial and body features, such as a small head, flattened nose bridge, slanted eyes, and a large tongue. Children with Down syndrome may also have shorter limbs and fingers, as well as lower muscle tone.
Screening for Down syndrome is essential for pregnant mothers to determine the risk of having a child with the condition. Methods of screening include Non-Invasive Prenatal Testing (NIPT) and ultrasound examinations. NIPT involves analyzing the genetic material from the child’s placenta obtained from the mother’s blood sample. Ultrasound examinations measure the thickness of fluid behind the baby’s neck and bone structure to detect abnormalities.
Diagnosing Down syndrome in newborns involves considering clinical features, such as skull structure and facial appearance. Doctors may also analyze the baby’s chromosomes through a blood sample to confirm the diagnosis. The presence of an extra 21st pair of chromosomes confirms Down syndrome in the baby.
Currently, there is no cure for Down syndrome. However, early diagnosis allows children to receive systematic treatment that focuses on stimulating their overall development. Treatment may include physical and occupational therapy, speech therapy, special education programs, and addressing complications such as congenital heart disease or thyroid hormone deficiency. Wearing corrective glasses or hearing aids may also be necessary.
Individuals with Down syndrome may experience complications such as congenital heart disease, hypothyroidism, digestive system issues, vision and hearing impairments, a higher risk of leukemia and autism, and an increased likelihood of developing Alzheimer’s disease.
Prevention of Down syndrome involves undergoing health examinations before marriage or entering a prenatal care program with an expert gynecologist to screen for any potential risks.
In conclusion, Down syndrome is a genetic condition caused by an abnormality in cell division resulting in the presence of an extra chromosome 21. It affects an individual’s intelligence level, physical features, and bodily systems. Diagnosis and early intervention can help individuals with Down syndrome lead fulfilling lives by addressing their specific needs and providing appropriate treatments.]
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