Individuals with down syndrome are born with an extra chromosome that results in the delayed normal development, both mentally and physically. Some of the common signs include the low muscle tone, upward slant to the eyes and small stature. Down syndrome appears to be a common genetic condition where around 1 in every 800 newborns is estimated to be affected. There are three types of down syndrome that are known as trisomy 21, translocation and mosaicism.
Causes
All the individuals with down syndrome have an additional chromosome 21 which exhibits the features that are characteristic of this condition. The exact cause of the additional chromosome is not known but maternal age is identified to be one of the possible causes. Although all the three types of down syndrome are genetic, it is estimated that only around 1% of all the cases have the hereditary component.
Symptoms
It is important to remember that each case of down syndrome is affected differently but do share similar physical and developmental problems. Some of the physical characteristics of down syndrome include reduced muscle tone, flat nasal bridge, a small mouth, slating eyes, below-average birth weight and height, broad hands, short fingers and a flat back of the head. Some of the delayed developments include slow learning skills such as sitting, standing, walking and talking. Additional abnormalities include heart and bowel problems, difficulty with vision and problems with hearing. They are also at increased risk of developing other ailments such as gastroesophageal reflux, the celiac disease which is the intolerance for gluten material in the food and alzheimer disease as they age. Behavioral issues can consist of obsessive compulsive behavior, attention problems, tantrums and stubbornness.
Diagnosis
The down syndrome can be identified before the birth of the infant by the screening test or the diagnostic test. The blood test can measure the amount of certain substances in the maternal blood along with an ultrasound. These tests along with the age of the mother can estimate their chance of delivering a child with down syndrome. The diagnostic tests involve the amniocentesis that can be done in the second trimester. After the birth of the infant, the diagnosis is usually based on the features that are characteristic of down syndrome along with a chromosomal analysis which can confirm the diagnosis.
Treatment
There isn’t a single treatment process for down syndrome. The treatment is based on the individual’s intellectual and physical needs. This can include different professionals that can consist of a physical therapist, social worker, speech therapist and physicians who will devise an effective plan. The affected individuals are at increased risk of developing various health problems that require monitoring and evaluation. The early intervention can involve a range of programs that can improve the affected child’s outcome. Additional treatments can include physical therapy to improve muscle strength and motor skills, speech-language therapy to enable better communication, occupational therapy that teaches self-care skills such as getting dressed or using the computer.
References
https://www.nichd.nih.gov/health/topics/down/conditioninfo/pages/treatments.aspx
http://kidshealth.org/en/parents/down-syndrome.html#
http://www.nhs.uk/Conditions/Downs-syndrome/Pages/Treatment.aspx
https://ghr.nlm.nih.gov/condition/down-syndrome#diagnosis
