Read More: Why get a genetic test if my child has already been diagnosed?
This is one of the most common questions that our genetic counselors receive from families. Their child may already have been diagnosed with developmental delay or autism spectrum disorder by their doctor, so it can be confusing as to why another diagnosis is needed.
Developmental delay means that a child is not on the same level as his or her same- aged peers. They may be behind in gross motor milestones like walking, talking, or they might be behind in their level of schoolwork.
"Developmental delay" is just a description, not a cause
If a doctor has given your child a diagnosis of developmental delay, or autism spectrum disorder, that's really a description of symptoms that the doctor sees in your child, but it's not the cause of those symptoms. That description can be very important for a lot of reasons, for instance it can help families access certain services, but it does not tell us why the child has these symptoms or answer the common question that many families have: what is the cause of my child's developmental delay or autism spectrum disorder?
Genetic testing is a new level of detailed information
A genetic test can really add a new level of information if a family's child has a diagnosis of developmental delay or autism spectrum disorder. Parents often say, "My child has developmental delay and I talk with other moms of kids with the same diagnosis and all of us seem to be in different places. Our children have different needs. What works for my child doesn't work for my friend's child, or vice versa." Part of the reason why these children are so different is because they are in fact different from each other. Some of them may have a certain genetic condition while the other children can have a very different genetic condition.
Testing helps find the root cause
It's important to get to the root cause of why the developmental delay is present in the first place. By having a deeper genetic understanding we can really provide both the family and their physician with a roadmap. A genetic diagnois can help answer questions like: What is the prognosis for Angelman syndrome? The answer to that question is very different than for a person diagnosed with a different genetic condition like William's syndrome, but both of these children have a diagnosis of developmental delay.
A genetic diagnosis enables better therapy
If the family knows which one of these genetic conditions their child has, they can learn about the very unique capabilities of their child. They can better understand the strengths, interests, and weaknesses their child may experience. It's very important to pinpoint the cause of someone's developmental delay or autism spectrum disorder to provide them the best personalized therapy and developmental care.