A Rare Diagnosis, A Remarkable Journey

When Maddie Coolbaugh was 38 weeks pregnant, she and her husband, Cordell, received unexpected news: their son had a tumor in his heart and tumors in his brain. Calloway was born the next day and diagnosed with tuberous sclerosis complex (TSC), a rare genetic disorder that causes noncancerous tumors to form in multiple organs.

Doctors near the Coolbaughs’ Oklahoma home recommended they seek a TSC specialist. Their search led them to Le Bonheur’s TSC Center of Excellence, where they found answers, support and a plan for the future.

At four weeks old, Calloway began preventive medication, which he took for a year to help prevent seizures and support healthy development. Under the care of Tanjala Gipson, MD, director of the TSC-Associated Neuropsychiatric Disorders Clinic at Le Bonheur, he also became the first patient enrolled in the “Baby Talk” research study, funded by the National Institutes of Health.

The study explores predictors of language development and autism spectrum disorder severity in infants with TSC. Researchers recorded Calloway during play sessions with his parents and speech pathologist, and he wore a recorder at home as he reached key developmental milestones. The recordings helped measure the sounds, words and language he heard and produced each day, providing valuable insight into early communication development in children with TSC.

“Dr. Gipson did a really good job explaining the research that she is conducting to us and the benefits of identifying early signs of autism or other behavioral and developmental issues through speech, in order to help get kids get intervention earlier,” Maddie said. “This study is a piece of what the field is trying to research and figure out with the medication that Calloway took, and we are proud to be a part of it and help other kids and families.”

TSC, Early Vocal Development and Autism

Tuberous sclerosis complex (TSC) is a genetic condition often associated with epilepsy and language delays, yet language impairments are frequently not identified until children are around 7 years old. Le Bonheur Neurodevelopmental Specialist Tanjala Gipson, MD, is first author of “Early Vocal Development in Tuberous Sclerosis Complex Predicts Language but Not Autism Outcomes” published in Pediatric Neurology, which examined early vocal development in infants with TSC as a predictor of later speech and language outcomes.

The study built on previous research and data shared by the Tuberous Sclerosis Complex Autism Center (TACERN) and is part of Gipson’s K23 grant from the National Institutes of Health. Using recordings from 108 12-month-old infants with TSC, Gipson measured vocalizations and canonical babbling — the speech sounds that form the foundation of language.

Infants with TSC showed lower canonical babbling ratios (CBR) and reduced vocalizations compared to typically developing infants. While reduced vocalizations did not predict later outcomes, lower CBR significantly predicted receptive and expressive language delays at 24 months. CBR was not associated with autism spectrum disorder.

“For families and clinicians, this research is a helpful and low-tech tool and holds promise as an inexpensive, noninvasive way to identify children with TSC who may benefit from earlier speech and language support,” said Gipson. The research concluded that delayed canonical babbling may serve as an early marker of future language impairment, enabling earlier intervention and support for children with TSC.