Down Syndrome

Consulting Doctor

Doctors that specialize in the diagnosis and treatment of genetic abnormalities like Down syndrome are known as geneticists. We are fortunate to work with board-certified geneticists. Advanced practice registered nurses include pediatric nurse practitioners.

Symptoms

The Down syndrome infant has a distinctive look. The phenotype, or how the child's genes cause them to seem, might differ noticeably for each patient, thus not every facet of appearance needs to be present.
6 typical signs of Down syndrome include: 
The tongue protrudes and appears to be too large for the mouth, the hands tend to be wide, with short fingers and there is only one flexion crease in the palm, joints tend to be more flexible, and muscles may lack tone. Other characteristics include a small head and short neck, a flat face and upward slanting eyes, flat ears, and a tongue that is positioned lower than "normal."

Causes

The human body typically has two sex chromosomes (allosomes) and 23 pairs of autosomes, often known as chromosomes. One copy of each chromosome from the sperm and one copy from the egg are transferred into a newly created cell during conception. The newly formed cell multiplies and divides to develop into an embryo, then a fetus, and finally a new human. The original 46 chromosomes, which carried the identical genes and DNA, are still present in every cell.
The chromosome 21's fusion is incorrect in persons with Down syndrome. The additional genetic material is to blame for the observed developmental defects. There are 47 chromosomes as opposed to 46.
Trisomy 21, in which the new cell receives three copies of chromosome 21 rather than two, is the most frequent chromosome replication error. About 95% of the Down syndrome patients have this as their explanation. Translocation refers to a less frequent occurrence in which an additional portion of chromosome 21 attaches to another chromosome, once more providing the new cell with more genetic material than is required.
When cells with the typical number of chromosomes (46+2) mingle with those that have a third chromosome 21 (47+2), it results in mosaic Down syndrome. The plus two sex chromosomes are designated as +2. Trisomy 21 cells' impact on the patient's physical and mental development can be modified by cells with normal chromosomes.

Genotype, the term used to define a person's genetic make-up, is often 47+2 for those who have Down syndrome. The physical and functional abilities of a patient are described by their phenotype. The phenotypic of people with Down syndrome is quite variable.

Treatment

A patient with Down syndrome should receive support and care in order to improve their quality of life.
Parents should be aware that developmental delays are typical in children with Down syndrome as infants with the condition may face delays in sitting, crawling, walking, and talking. Physical, occupational, and speech therapists can work together to provide care that maximizes each patient's potential for language, motor, and social skill development.
Down syndrome-related illnesses, such as those that impact the digestive or cardiovascular systems, may call for examination, treatment, and even surgery.
The level of support and care required as the patient ages will rely on their capacity to function physically and intellectually.
 

Tests Required for Diagnosis

Most frequently, tests (listed below) are used to identify Down syndrome while the fetus is still inside the uterus. Regardless of the mother's age, the American College of Obstetrics and Gynecology advises routine screening for all pregnancies.
Blood tests and ultrasounds may be done during the first and second trimesters of pregnancy to screen not just for Down syndrome but also for spina bifida and other genetic disorders. Specific diagnostic tests might be taken into consideration if these screening tests indicate the possibility of Down syndrome. They consist of the following:
Amniocentesis: This procedure involves inserting a needle into the uterus under ultrasound guidance in order to take a sample of the amniotic fluid that surrounds the fetus. Chromosome analysis can be used to check for trisomy 21 in the fetus.
Chorionic villus sampling: To examine the fetal chromosomes, cells are removed from the placenta.
These tests carry a minor risk of miscarriage. Depending on the circumstances, the mother and the medical expert decide together which test would be most appropriate and when to perform it.
Down syndrome is typically identified at birth based on the newborn's features, and the medical expert will probably request a chromosome analysis to confirm the diagnosis.A patient with Down syndrome should receive support and care in order to improve their quality of life.
Parents should be aware that developmental delays are typical in children with Down syndrome as infants with the condition may face delays in sitting, crawling, walking, and talking. Physical, occupational, and speech therapists can work together to provide care that maximizes each patient's potential for language, motor, and social skill development.
Down syndrome-related illnesses, such as those that impact the digestive or cardiovascular systems, may call for examination, treatment, and even surgery.
The level of support and care required as the patient ages will rely on their capacity to function physically and intellectually.