Development Delays & Genetic Testing

Developmental delays are diagnosed when children do not reach timely developmental milestones. Symptoms include difficulties with language, learning, social interaction or motor skills. Genetic testing of blood or tissue samples, either in utero or after birth, can identify certain delays.

Causes

• Genetic-based developmental delays occur with abnormalities involving mutated, missing or extra genes or chromosomes. Depending on the disease, these abnormalities can be inherited or can occur spontaneously.

Examples and Indicators

• Examples of genetic-based diseases causing developmental delays are Down syndrome, Fragile X and Rett syndrome. In addition to developmental delay symptoms, decisions for genetic testing are based on several indicators including family history, mother's age and health, or having had a previous child with delays.

Caution

• While genetic testing can confirm gene abnormalities, it cannot predict the severity on a particular individual. The same gene can express various degrees of severity in different individuals. Environmental factors also play a role in some genetic conditions. Therefore, genetic information must be utilized in conjunction with other diagnostics and therapies.