This article explains Down syndrome and how it is diagnosed.
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What Is Down Syndrome?
Chromosomes are small packages of genes in the body.
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They determine how the body forms and functions as it grows during pregnancy and after birth.
Humans have 23 pairs of chromosomes inherited from their parents.
With Down syndrome, there is an extra full or partial chromosome 21.
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Types of Down Syndrome
There are three types of Down syndrome.
Technically speaking, parents and healthcare providers look for signs of Down syndrome, rather than symptoms.
These may be seen once a child is born or, in some cases, in utero.
The first indication of Down syndrome can appear during routineprenatal testing.
An amniocentesis orchorionic villisampling (CVS) may be recommended.
These prenatal tests are used to examine cells taken from the amniotic fluid or the placenta, respectively.
They can confirm a diagnosis of Down syndrome.
Some parents opt for these tests, while others do not.
These are most apparent at birth and can become more pronounced with time.
Hypotonia often causes babies with Down syndrome to appear floppy.
The poor muscle tone can and often does improve with age and physical therapy.
Low muscle tone may contribute to feeding problems and motor delays.
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This is an immediate memory system for just-learned information.
This can put them at a special disadvantage in classrooms where most new info is taught through spoken language.
Children with Down syndrome can and do learn, and are capable of developing skills throughout their lives.
They simply reach goals at a different pace.
Is Down Syndrome the Same as Autism?
Down syndrome and an autism spectrum disorder (ASD) diagnosis are two separate conditions.
Motor Development
Down syndrome also affects the development of motor skills.
Some behaviors associated with Down syndrome are largely due to its unique challenges.
This can be interpreted as innate stubbornness, but that’s rarely the case.
People with Down syndrome also engage in a lot of self-talk, which everyone does sometimes.
These problems include:
About half of all people living with Down syndrome will need vision correction.
(This occurs in less than 4% of the general population.)
An AVSD may need to be surgically treated.
Children with Down syndrome who aren’t born with heart problems will not develop them later in life.
Seizure Disorders
Epilepsy, a seizure disorder, can occur early or later in life.
About half of the people with Down syndrome developepilepsyafter age 50.
This extra copy changes how the body and brain develop, which makes intellectual and motor development more challenging.
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American Cancer Society.Risk Factors for Childhood Leukemia.
Nationwide Children’s Hospital.Down Syndrome Life Expectancy.
2016 Jul;174:240-246.e1.
American Academy of Orthopaedic Surgeons.Down Syndrome: Musculoskeletal Effects.
Centers for Disease Control and Prevention (CDC).Living with Down Syndrome.
Centers for Disease Control and Prevention (CDC).About Atrioventricular Septal Defect (AVSD).
Holmes, G.Gastrointestinal Disorders in Down Syndrome.Gastroenterol Hepatol Bed Bench.
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National Institutes of Health.What Conditions or Disorders Are Commonly Associated with Down Syndrome?
