DOWN SYNDROME – Here are some important things that you need to know about this genetic condition.
Down syndrome is a genetic condition caused by an extra copy of chromosome 21. This extra genetic material alters the course of development and results in the characteristics associated with Down syndrome. Here’s a detailed overview to help understand this condition better.
It is also known as trisomy 21, the most common chromosomal condition diagnosed in the United States. It occurs in about 1 in every 700 babies born.
Patients may experience mild to moderate cognitive impairment, delayed language and speech development, delayed motor skills and other related health issues.
CAUSES
Down syndrome is caused by an error in cell division that results in an extra full or partial copy of chromosome 21. This additional genetic material disrupts normal development and causes the characteristic features of Down syndrome.
There are three types of Down syndrome including; Trisomy 21, Mosaic Down Syndrome and Translocation Down Syndrome.
SYMPTOMS
- Individuals diagnosed with this condition often have a distinct appearance such as:
- Flattened facial profile
- Almond-shaped eyes that slant upward
- Small head and ears
- Short neck
- Tongue that tends to stick out of the mouth
- Tiny white spots on the iris
- Poor muscle tone
People with this generic disorder are at increased risk for certain medical conditions, including:
- Congenital heart defects
- Respiratory issues
- Hearing problems
- Thyroid conditions
- Gastrointestinal problems
- Leukemia
- Sleep apnea
- Alzheimer’s disease later in life
- Diagnosis
Down syndrome can be diagnosed prenatally or at birth. After birth, a diagnosis is typically made based on physical traits and confirmed with a karyotype test, which analyzes the baby’s chromosomes.
TREATMENT
While there is no cure for this condition, early intervention can greatly improve quality of life. Treatment and support focus on managing symptoms and helping the individual reach their full potential.
Individuals with trisomy21 can still attend school, participate in community activities, hold jobs, and form meaningful relationships like ordinary people.