Searching for new therapies for children with a rare disease

A young study participant doing balance assessment & rehabilitation in a virtual environment.

A young study participant doing balance assessment & rehabilitation in a virtual environment.

Children with hypermobile Ehlers-Danlos syndrome are suffering because conventional therapy and treatments are not effective. Associate Professor Brooke Slavens, PhD, Department of Occupational Science and Technology and Biomedical Engineering, and her team of faculty, staff, graduate students, and undergraduate students are working to remedy the problem.

The project titled, “Defining the Biomedical Phenotype in Hypermobile Ehlers-Danlos Syndrome (hEDS),” was designed to help clarify the symptoms of the syndrome to develop new therapeutic interventions.

What is hypermobile Ehlers-Danlos syndrome?

Hypermobile Ehlers-Danlos syndrome (hEDS) is the most frequent subtype of the heritable connective tissue disorder. Up to two-thirds of individuals with hEDS report musculoskeletal pain of their joints and recurrent joint dislocations. These dislocations result from joint hypermobility, which is when a person’s joints move easily beyond their expected range.

The dislocations are painful and can lead to early onset osteoarthritis and osteoporosis. Despite the pain and long-term impact of the syndrome, there are limited ways to measure the manifestations of hEDS symptoms. The lack of research causes poor outcomes with occupational therapy, physical therapy, and surgery.

The realization of a problem

While at a dinner party, Slavens was talking with Christine Cayo, OTR/L from the Children’s Hospital of Wisconsin in Milwaukee, about her work with children with hEDS. Cayo told Slavens that conventional therapies and treatments are not effective because of the lack of quantitative data about the syndrome.

Slavens was captivated, intrigued, and motivated to collaborate with Cayo. Slavens explained to Cayo that she and her team could use engineering applications to better understand the collective interactions in the body of an individual with hEDS and to create new strategies for patient rehabilitation. By clarifying hEDS’s biomechanical mechanisms, she and her team wanted to help researchers develop new therapeutic interventions for those with the syndrome.

She was connected with Donald Basel, MD, chief, associate professor and medical director of the Genetics Center at Children’s Hospital of Wisconsin in Milwaukee. He was excited about the potential to work together to develop methods for improved hEDS diagnosis and interventions to treat the children. Slavens and Basel quickly hit it off and started a scientific research collaboration to address this critical medical need.

Collaborative research in search of solutions

Slavens and Basel were ready to begin the research. They received funding from a UWM College of Health Sciences’ Stimulus Project to Accelerate Research Clusters (SPARC) grant and the Children’s Hospital of Wisconsin Genetics Center.

Collaborating with Slavens are colleagues from the Department Occupational Science and Technology (OST), Joyce Engel, PhD, OT, FAOTA, professor and Alyssa Schnorenberg, MS, researcher and Mobility Lab Manager. Joining them are Matthew Hanks, PhD, postdoctoral fellow in OST and UWM’s Biomedical Engineering, and eight collaborators from the Children’s Hospital of Wisconsin.

Their goal is to measure characteristics of the movements of youths with hEDS, using activities that replicate daily living situations, such as walking and balance. The researchers will then correlate the biomechanical findings with the participants’ genetics measures with the goal of identifying trends of the syndrome.

The work is innovative because this research team will be the first to carry out a comprehensive evaluation of the syndrome using quantitative, objective assessments.

Developing therapeutic strategies

At this point, the researchers have evaluated 10 youths with hEDS between the ages of 8-17 years. Some of their patients are siblings, and there is even a set of twins in the research sample. They have found that the syndrome is extremely complex and variable, with different presentations and manifestations of symptoms even among siblings and twins.

In comparison to “typically developing” children, researchers have successfully quantified that children with hEDS’s joint ranges of motion and balance parameters are outside the normal range. Because they have more motion, they often experience higher joint loading, abnormal balance and a decreased sense of body orientation.

Researchers have also successfully developed and evaluated research methods that have proven effective for full body motion evaluation during upper extremity activities of daily living, such as reaching, walking and balance and genetics sequencing.

The researchers will now move toward developing appropriate, patient-specific strategies for therapy. This research will lead to improved diagnosis, therapeutic planning, and the development of clinical interventions for managing, treating and/or ultimately preventing the syndrome in persons across their lifespan.

A large team of students assisted with conducting the research and the data collection and analysis.

Students Assisting with Research on Hypermobile Ehlers-Danlos Syndrome

Mohanad Abuhattab
Undergraduate student in Biomedical Engineering
Assisting with balance data analysis

Paige Aschenbrener
Master’s thesis student in OT
Assisting with all data collection and analyses

Briana Magruder
Master’s student in OT
Assisting with balance data collection and analysis

Anahita Qashqai
Doctoral student in PhD in Health Sciences program
Conducting motion analysis and electromyography (EMG) data collection and data analysis

Elizabeth Ruiz
Master’s student in OT
Assisting with balance data collection and analysis

Alicia Sandoval
Master’s student in OT
Assisting with balance data collection and analysis

Melissa Stec
Undergraduate student in Biomedical Engineering
Assisting with foot pressure mapping and data analysis

Catherine Wilson
Master’s student in OT
Assisting with balance data collection and analysis

Olivia Wilwert
Master’s thesis student in OT
Evaluating upper extremity human motion analysis during activities of daily living