09:31pm Tuesday 26 September 2017

Cognitive disability breakthroughs continue at CIRC

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Harald Sontheimer, director of the Civitan International Research Center, credits the faculty and staff for investigating unique, ground-breaking ways to improve the quality of life for families around the world for the past 20 years. “And our work has just begun,” he says.

Since that time, the Civitan International Research Center (CIRC) has developed innovative programs for developmental cognitive disabilities including cerebral palsy, Fragile X, Down syndrome, autism and attention-deficit hyperactivity disorder — programs that formed the basis for the national Head Start program. It also has conducted groundbreaking clinical research on Rett syndrome, Ataxia, epilepsy and brain tumors.

“We’re incredibly proud of the breakthroughs at the CIRC,” said Bill Buscher, president of Civitan International, during CIRC’s annual reception in October. “Helping people with developmental disabilities is a cause close to the heart of every Civitan. We look forward to many more years and to building a better tomorrow for children everywhere.”

Harald Sontheimer, Ph.D., director of the CIRC, credits the faculty and staff for investigating unique, groundbreaking ways to improve the quality of life for families around the world.

“We have 83 principal investigators, and they’re all amazingly successful,” Sontheimer says. “For each of them, there is at least a small breakthrough they can report. We have been a key player in identifying a need for early intervention, formulated the concept for its implementation and advocated in Washington for Head Start. And our work really has just begun.”

Down syndrome and cerebral palsy were the diseases of greatest concern when Civitan International made its initial commitment of $1 million a year for 20 years to the CIRC.

Craig and Sharon Ramey, the first directors of the CIRC, focused on cognitive development and helping impoverished children at risk in rural communities reach their learning potential. The Ramey’s work became the foundation of Head Start, and CIRC continues to identify children who are at risk and provide them with educators and social workers who can assess learning abilities and provide help.

Other developmental disorders have become problematic during the past 20 years, including autism and ADHD. Sontheimer says one of CIRC’s strengths is its ability to adapt to the changing landscape and investigate new disorders as they emerge.

“We didn’t want to limit ourselves in these areas, so our objective always has been to find the best talent we can, bring them in and let them do what they want to do,” Sontheimer says. “They discover wonderful things. One of the reasons we revealed estrogen’s effect on spinal-cord injury was an interest in acute insults: How are kids who are born normal affected when they have accidents? We didn’t do anything beyond that. We just identified a talent, Candace Floyd, Ph.D., and she developed the research.”

CIRC researchers also work closely with the Civitan Sparks Clinic to develop therapies along the autism spectrum and for ADHD and cerebral palsy, among others.

One area of cerebral palsy research has focused on children born hemiplegic, where half of their body doesn’t function well. It typically affects the arm or leg, and many children have difficulty writing, playing with toys and getting dressed.

Stephanie Deluca, Ph.D., and her colleagues developed a protocol for Pediatric Constraint Induced Therapy, known as ACQUIREc, which is used at UAB and hospitals and rehab centers throughout the world. As part of the intense therapy, a child’s fully functional arm or leg is constrained for up to eight hours per day for weeks, which forces them to use their hemiplegic extremity.

“The results in these kids have been miraculous during the course of two to three months,” Sontheimer says. “The handbook for how to implement ACQUIREc therapy literally was written here. It teaches clinicians around the world how to implement this program in their clinic and help children that are born with cerebral palsy regain the function they didn’t have at birth.”

“Combining our translational and clinical enterprise with the Civitan Sparks Clinic has resulted in many discoveries being made that translate into changes in clinical practices. And the clinical problems we find challenge our scientists to do better research to find causes for disabilities.”

Sontheimer believes the CIRC has a laid a strong foundation for the years to come.

Other areas of research are coming to the center or have recently started, including epigenetic influences into neurological diseases and genetics.

The sequencing of the human genome — “an event akin to landing on the moon for science,” Sontheimer says — means CIRC researchers now have a great opportunity to mine for genes that are actually causal of medical conditions.

“We’re beginning to do genomic analysis to look at diseases such as autism and metabolic disorders to see the extent to which there actually are changes in gene expression and genetic predictors of disease,” Sontheimer says. “We’re hoping to incorporate genetic analysis much more into our understanding of developmental disabilities in the next decade.”

Emphasis also will be placed in using the fMRI to learn more about developmental disabilities. The groundbreaking FaceSay program — a computer program developed by CIRC researchers Fred Biasini, Ph.D., research associate professor of psychology, and Maria Hopkins, Ph.D., assistant professor on psychology, to help autistic children identify emotions — will be further explored using the fMRI. Researchers will study brain activity of the children before, during and after they are engaged in the game to see if their brains are being rewired.

“That’s where the research, clinical and interventional ends really meet together,” Sontheimer says. “You can’t do this in isolation. You really need a center like this that has everything from clinical psychology to imaging to molecular biology all in one.

“And if the kids that use this program show permanent changes in their brain activity, that’s potentially transformational. We’re to the point in our research where we certainly want to use the fMRI much more as an evaluative measure for cognitive development disorders.”

Tyler Greer

Writer, UAB Reporter
(205) 934-2041


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