Paula Schleifer, MD, Chief – Department of Neurology, Co-Medical Director – Nicklaus Children’s Hospital Neuroscience Institute

In an interview with Invest:, Paula Schleifer, co-medical director of the Neuroscience Institute at Nicklaus Children’s Hospital, discussed how multidisciplinary care, neurogenetics, gene therapy, and minimally invasive approaches are reshaping pediatric neuroscience. “Genetic testing has really changed the way we practice child neurology,” Schleifer said.

How is the Neuroscience Institute shaping its strategy to improve outcomes for children with complex neurological conditions?

The cornerstone of our work at the Neuroscience Institute is multidisciplinary care. We have several programs within the institute, and the majority are structured around multidisciplinary clinics that bring several subspecialties together.

One example is our neurogenetics program, which includes our neurogenetics metabolic clinic and our rare chromosomal disorders clinic. Under rare chromosomal disorders, we have specific programs for conditions such as Rett syndrome, Angelman syndrome, and chromosome 22 disorders. Many of these clinics are held in collaboration with patient associations.

The way we build these clinics is by identifying the disorder and determining which specialists are needed for that specific disease. In our chromosome 22 clinic, for example, we have neurology, genetics, endocrinology, cardiology, immunology, nutrition, nursing, and social work involved. For Rett syndrome, we include genetics, neurology, social work, cardiology, and our rehabilitation team, including physical therapy, occupational therapy, and speech therapy.

We see patients together, meet after clinic to discuss them, and coordinate testing and care plans. That reduces redundancy, improves quality, and makes the experience easier for families. Strategically, we have also grown geographically, expanded the number of programs and offerings, and increased our research studies and academic productivity.

How does this integrated model change the patient experience compared to more traditional care approaches?

The biggest change is ease of use for the patient and family. Many of our patients have chronic conditions and significant disease burdens. By seeing them together, we decrease the number of separate appointments families have to attend.

Our goal is to accomplish as much as possible in one visit. We also try to have families leave with the next appointments already scheduled. That level of care coordination is extremely important because many families are navigating a lot. We want to make that process easier for them.

From a quality standpoint, multidisciplinary care is associated with better outcomes. There is a body of literature showing that care coordination improves quality and outcomes. We have not done a local study at our institution to measure that specifically, but the broader evidence supports the model.

With multiple programs in place, how do you decide which emerging neurological conditions or treatments to prioritize for expansion and research?

The program has evolved over many years. Some of our clinics, such as neurogenetics and epilepsy outcomes, have existed for a long time. The institute began in the early 1990s, and our epilepsy program has a long history as well.

The evolution has followed the evolution of neurology and neuroscience. As new diagnoses, therapies, and patient needs emerge, we respond. We also partner closely with patient associations, families, clinicians, and the hospital. Sometimes families themselves identify a need and say that a specific clinic should exist here.

We do not make those decisions alone. We build programs with the support of patient associations, families, clinicians, and institutional leadership.

What innovations in pediatric neuroscience are you most excited about right now?

A lot is happening in neuroscience, but one of the most exciting areas is gene therapy. We offer gene therapy for Duchenne muscular dystrophy and spinal muscular atrophy, both of which are commercially available.

It has been incredible to see the evolution of the children we have already treated. Duchenne muscular dystrophy affects boys who are often born developing normally, achieve ambulation, and later lose the ability to walk. Gene therapy slows the progression of the disease, and seeing that impact is remarkable.

Gene therapy is exciting not only from the standpoint of commercially approved treatments but also from a research perspective. We have gene therapy trials at the hospital, and for neurology, this is one of the most important areas of advancement.

We are also seeing major advances in minimally invasive treatments for epilepsy and movement disorders. High-frequency ultrasound for ablation in epilepsy surgery is an important development because it can reduce morbidity. Devices such as responsive neurostimulation for epilepsy and deep brain stimulation for epilepsy and movement disorders are also expanding treatment options.

How is genetic testing reshaping diagnosis and treatment for pediatric neurological disorders?

It has been a real revolution. I have been seeing patients at the hospital for almost 14 years, and the accessibility of genetic testing has changed dramatically. Years ago, testing was far more expensive, and the technology was more limited. Today, we can sequence the entire genome.

Genetic testing has changed the way we practice child neurology. Most of the patients we see undergo genetic testing, and we learn something new every week because of advances in genetic diagnosis.

We see patients with disorders that may have only one or two described cases in the world. That is how much the field has evolved. Genetic testing allows us to diagnose conditions that we could not identify before, and it also opens the door to treatment because many genetic diseases are treatable.

How does research fit into the work of the institute?

Most of the research we do is clinical rather than bench-to-bedside translational research. We do not have laboratory-based research in that sense. Much of our work is industry-sponsored clinical trials for medications, new drugs, and gene therapies.

We also have investigator-initiated trials. Our research spans areas such as neurodevelopmental disabilities and epilepsy. The goal is to provide access to emerging therapies and contribute to the advancement of care in pediatric neuroscience.

How is the institute advancing treatment options for epilepsy and neurometabolic disorders?

We have a ketogenic diet clinic that has been operating for about 30 years, so we have extensive experience with dietary treatments. We use dietary therapy not only for epilepsy but also for certain neurometabolic disorders, and we have had success with our patients.

There is a spectrum of dietary therapies. The classic ketogenic diet is the strictest and may allow only about 4 grams of carbohydrates a day. On the other end is low glycemic index treatment, which is less strict and may allow about 60 grams of carbohydrates a day. In the middle is the modified Atkins diet, which allows about 10 to 15 grams of carbohydrates a day.

All of these diets require close monitoring by our team, which includes a nurse practitioner, nutritionist, and physician. These treatments can work well for epilepsy and for selected neurometabolic conditions.

What will be the biggest challenges in pediatric neuroscience over the next few years, and how is Nicklaus Children’s Hospital preparing to address them?

One major challenge will be how healthcare systems manage the growing number of gene therapies that are becoming commercially available. These therapies require the support of payers and health systems. Only those with the right infrastructure and experience will be able to provide them effectively.

There is a lot that is required before a child can be treated with gene therapy. Because we have clinical trials and existing experience, we already have much of that infrastructure in place at Nicklaus Children’s Hospital. Our focus is to continue evolving, maintaining, and optimizing that infrastructure so we can treat children with these therapies in the future.

Another major challenge is the significant shortage of child neurologists across the nation. This has been a continued challenge. There are not enough pediatric neurologists in the United States, which limits access to care. Addressing that shortage and encouraging future generations of clinicians will continue to be one of the biggest challenges to address in this field.