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Down Syndrome and Other Genetic Conditions

Down Syndrome (DS) and other genetic conditions are based on the chromosomal makeup of a child. Find out more about DS and other genetic conditions here.

Boy with special needs playing with blocks

Down Syndrome

In scientific terms, Down Syndrome (DS), also known as Trisomy 21, is a genetic condition in which a child has three copies (partial or whole) of chromosome 21. This genetic difference causes low muscle tone, distinct facial characteristics, and cognitive delays. Children with DS are characteristically very caring and loving – the extra chromosome also means extra love!

Because of the distinct facial features associated with this condition, it is often detected at birth. However, there also are genetic screening tools that can be used while a woman is pregnant to determine the likelihood of her unborn baby to have this genetic condition.

Children with DS will have developmental delays (language, motor, and cognitive) and are typically classified as having an Intellectual Disability. The level of impairment varies from mild to severe. Children with DS are more likely to have other medical issues as well. 

Because of the known effects of DS on development, children with DS typically receive multiple therapeutic services starting at birth through medical insurance and/or the local Regional Center. At age three, a child with DS should be assessed by his/her local school district to determine appropriate school-based services.  These early intervention services may include speech and language therapy, occupational therapy, physical therapy, and behavioral therapy. If your child has been diagnosed with DS, consult with your child’s pediatrician to learn more about what types of services may be available.

Other Genetic Conditions

There is an ever-growing number of genetic conditions that affect early childhood development as the medical field learns more and more about human genes. In addition to DS, more common genetic conditions that particularly affect early childhood development include Cystic Fibrosis, Huntington’s Disease, Sickle Cell Anemia, and Muscular Atrophy/Dystrophy conditions. Some conditions are more likely to occur in certain ethnic groups. Although some may be detected early through genetic screenings during pregnancy, others are not detected until later, once symptoms occur. If you are concerned about your child’s development in any way, consult with your child’s pediatrician and ask if certain genetic testing is appropriate.

Parent Tip: As a parent, you know your child better than anyone else. If you notice anything about your child’s behavior or development that doesn’t seem right, talk with your child’s pediatrician about your concerns.

First 5 California
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First 5 California
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