Down Syndrome
- Deepti Kumar
- 10 hours ago
- 2 min read
Photo Credit: Wix
What is Down Syndrome
Down syndrome is the most common type of chromosomal condition diagnosed in the United States with about one in every 640 babies born with it. It occurs due to presence of an extra copy of chromosome 21 (Trisomy of chromosome 21), resulting in multiple complications. With improved medical care, life expectancy of people born with down syndrome has greatly increased between 1960 to 2007 from 10 years of age to 47 years of age.
Down Syndrome symptoms
Patients with down syndrome display distinct physical features, learning and behavioral challenges. The severity of the symptoms varies from person to person. Physical features include a flat face with almond shaped eyes slanting upwards and a nose bridge. They have a long tongue that tends to stick out. Additionally, they have a short neck, small hands and feet, small ears and mouth, short stature, and low muscle tone. Children with down syndrome can develop ear infections, dental and vision problems and congenital heart disease as they grow. Learning challenges are common in children with down syndrome. They may take longer to toilet train, say their first words, take their first steps and feed themselves. Behavioral challenges include difficulty focusing, temper tantrums, and compulsive behavior.
Diagnosis
Doctors can diagnose down syndrome before or after birth. Before birth, a prenatal genetic test can be performed to screen for trisomy 21. To estimate your risk screening tests can be performed these include: blood tests, Nuchal translucency, Quad screen and NIPT test. Diagnostic test help confirm a diagnosis, but are more invasive, these include Amniocentesis, Chronic villus sampling (CVS)and Cordocentesis (less common). After birth, doctors look for physical signs and can do a test to check for trisomy of chromosome 21. For early results a test called FISH (Fluorescence in situ hybridization) can be performed followed by a test called karyotype to confirm the diagnosis.
Management
A multidisciplinary care team is needed to effectively manage down syndrome. Focus should be on early intervention, regular health screening and supportive therapies. Regular screenings include monitoring for congenital heart issues, thyroid related complications, digestive issues, Autism and Alzheimer’s along with vision and hearing issues. Physical, occupational and speech therapies can be very helpful for developmental issues. Accesses to family and community resources along with a specialist care management team can enhance the quality of life and increase the life expectancy of patients with down syndrome.
Sources
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