Diagnosing, managing a child’s developmental disabilities

Genetic testing, counseling can help find the diagnosis, cause and intervention

Diagnosing, managing a child’s developmental disabilities

From the first smile to crawling and walking, each child has many developmental milestones before even starting preschool. While children achieve these at their own pace, sometimes a child has an underlying problem that delays or prevents typical development.

What is done when a child isn’t developing as expected? It is a question many of us may not think about, but it is an important one to answer.

The Centers for Disease Control and Prevention says about 15% of children have at least one developmental disability. Finding the cause and determining the best interventions will allow these children to reach important developmental milestones as well as live a happy, healthy life.

Meeting with a specialist

“Typically, when a family comes to see me, someone has identified a concern,” said Carolyn Kippes, M.D., a developmental pediatrician at Sanford Health. “Maybe the family had a well-visit with their primary care provider, and during the screening a concern showed up. Otherwise, the school district or preschool could have identified something concerning.”

“Primary care, family medicine and other physicians are doing a really nice job of identifying children through screening in our region. So we often are able to help families earlier in the child’s development,” she said. “Early identification and intervention is key with developmental delays.”

The goal of seeing a specialist is not to simply figure out why the delay is happening, but to help the child reach their full potential.

“To help the family, we have to figure out what specific developmental delays are occurring,” said Dr. Kippes. “Then, we work to identify the cause. That way we can develop interventional strategies and offer resources to help the child and family.”

Sometimes, a developmental delay is genetic. Other times, a developmental delay is multifactorial, meaning there are multiple causes. And not all of these are genetic. This can make diagnosis complicated, but as a referral center, Sanford Health sees many patients for a broad range of developmental delays.

Through the entire process, developmental pediatricians and genetic counselors are there to guide the family — from the first appointment all the way to adulthood.

A need for genetic testing

“Genetic counselors meet with a patient anytime genetic testing is recommended. This may be at that first visit with the developmental pediatrician or at a follow-up appointment,” said Lisa Straight, M.S., a certified genetic counselor at Sanford Health.

“A big part of that meeting is talking about family history. Does the family have a history of developmental disabilities or delays, autism, multiple miscarriages? We are looking for clues about what is the best genetic test to order,” Straight said. “In many circumstances, there is no family history of similar concerns. This does not rule out the possibility of a genetic condition, however.”

With some patients, the best genetic test to order becomes very clear based on symptoms and family history. For others, genetic counselors start with basic testing that is recommended by multiple clinical guidelines as “first tier” genetic testing for children with developmental disabilities.

In addition to talking about genetic testing, the discussion includes insurance and consent as well as the emotional and social implications of doing genetic testing.

Finding the unexpected

While uncommon, there is always the chance of discovering something unexpected during genetic testing. Genetic counselors make sure to explain the possibility to families.

“A very common test we might recommend is called a chromosomal microarray. This test checks for extra or missing pieces of DNA, which is a frequent cause for developmental delays. It can be hard to predict what will be found by a microarray,” Straight said.

“We may find the genetic cause of a disability is due to a missing piece of DNA, for example. But we could also find that the deletion includes a gene that increases the child’s risk for heart disease,” she said. “Anything found by the lab is placed in the report, so we talk to the family to ensure they understand and help overcome any anxiety.”

Genetic counselors are usually the ones to order the genetic test. They also discuss the results first with the doctor and then call the patient’s family. While genetic testing can provide answers for some families, there are circumstances where a diagnosis cannot be made.

The follow-up

“If the results show the child has an underlying genetic disorder, we would recommend the family meet with a geneticist,” Dr. Kippes said. “However, if the result is negative but the family is still motivated to determine the cause, we would recommend coming to see a geneticist for an evaluation.”

“Having a genetic diagnosis for developmental disabilities can be very meaningful to families,” Straight said. “It opens the door to improving medical management for the child and, in some cases, can provide relief or even a sense of belonging if they are able to connect with other families who are impacted by the same genetic condition.”

Continual checkups with both developmental pediatrics and genetic medicine are often recommended. That way, support and guidance is offered across the child’s lifetime, and a strong partnership is built between the family and care team.

To learn more, call (605) 312-4363.

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Posted In Children's, Genetics, Health Information, Inclusion at Sanford, Innovations