The Role of Genetic Testing in Diagnosing Intellectual and Developmental Disabilities

Intellectual and developmental disabilities in children are associated with a wide range of potential causes, including genetic conditions, prenatal issues, childhood illnesses and trauma.

Discovering the cause of childhood disabilities is a crucial part of making sure that children receive the care they need.

The American Academy of Pediatrics recently issued an update on diagnosing intellectual and developmental disabilities. When doctors are unable to find an obvious cause, such as trauma, recent illness, or infection, the AAP recommends genetic testing in children. This helps doctors determine whether a genetic abnormality or other genetic issue could be causing the disability in question.

Benefits of Genetic Testing in Children

Genetic testing to find the cause of intellectual or developmental disabilities offers several important benefits, including the following:

  • More accurate prognosis: Families can get a more accurate prediction of how the disability will affect their child and whether or not their child’s condition is likely to improve or worsen over time if a genetic abnormality is the cause. For example, families have a better chance of finding out that their child might be at risk for other health issues associated with certain genetic abnormalities.
  • Specialized treatment: Families can ask their doctor and any specialists their child is seeing about the best course of medical treatment. They can also ask these healthcare professionals to help them get in touch with the support services that would best serve their child depending on the severity of their disability and genetic condition. Making sure that children receive proper medical care and help from support services helps improve their quality of life.

Types of Genetic Testing

Chromosome microarray testing is commonly used to detect genetic abnormalities. This type of test compares patients’ DNA to reference samples in order to look for variants, or differences, between the two. Chromosome array testing can detect certain types of genetic abnormalities, such as variants in chromosome number, but it does not detect other types of abnormalities, including Fragile X syndrome. Additional lab tests, such as FMR1 DNA test for Fragile X syndrome, must be done in order to determine if there is a genetic abnormality present.

What Happens After Testing?

When chromosomal array testing or Fragile X testing shows genetic abnormalities, doctors can recommend changes to the patient’s current treatment plan as needed. Doctors can also discuss any other health risks to the patient based on the genetic testing results and advise families on how to handle these risks. Knowing that a genetic abnormality is responsible for an intellectual or developmental disability means that families will be able to arrange more effective care for their children through support services.

If the results of genetic testing in children do not provide conclusive evidence of a genetic abnormality, doctors will typically use other types of testing, such as brain scans, to determine the cause.

Genetic testing in children is just one part of ensuring that those with intellectual or developmental disabilities get the right help. Integrity, Inc. can provide your family with support services to help your child thrive. Contact us for information on the programs we offer for children with developmental or intellectual disabilities at (501) 406-0442.

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