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Neurology & Neurosurgery

Children’s Neurologist Helps Bring First Rett Syndrome Drug to Market

Children’s of Alabama pediatric neurologists Dr. Amitha Ananth (left) and Dr. Alan Percy

In March, the U.S. Food and Drug Administration approved the first treatment for Rett syndrome, a rare neurological disease. Considered a major breakthrough, the new drug, called trofinetide, or Daybue, may never have made it to market without the groundbreaking work of Children’s of Alabama pediatric neurologist Alan Percy, M.D.

Percy is one of the leading Rett syndrome experts in the world. He diagnosed the first patient with the disease in the U.S. and led a multicenter, National Institutes of Health-funded study on its natural history. He now co-leads, with Amitha Ananth, M.D., the Children’s of Alabama/University of Alabama at Birmingham (UAB) Child Neurology Rett Syndrome Clinic, one of the largest in the country and one of just 15 centers of excellence in Rett syndrome in the country.

“The availability of this medication is a game-changer in our efforts to treat this disorder directly, rather than only treating the specific problems that may arise,” Percy said. “It is remarkable that this treatment emerged less than 40 years after Rett syndrome first became known throughout the world.”

Rett syndrome affects about one in 10,000 babies, nearly all female. Infants with the condition develop normally until about 18 months of age, when they start missing developmental milestones and even regressing in some areas. The most classic feature, according to Ananth, a pediatric neurologist at Children’s, is loss of ability to use their hands in a meaningful way. Instead, they make repetitive, purposeless movements like handwringing, squeezing, clapping, tapping or rubbing. They also can’t communicate verbally.

Ananth has begun prescribing the new treatment to her patients. Prior to its approval, physicians prescribed physical, speech and occupational therapy; medications to treat symptoms like seizures and anxiety; and monitored growth and nutrition. “But there are a lot of aspects of this condition for which we really don’t have great drug treatment,” Ananth said. For instance, many patients with the disease will hold their breath or breathe very rapidly. “That can be quite disruptive to their daily life, but we don’t have great tools to deal with it.”

The Department of Defense initially developed trofinetide to treat traumatic brain injury. It’s a novel synthetic version of a tripeptide within the insulin-like growth factor 1 molecule (IGF-1). People with Rett syndrome have altered levels of IGF-1. Data suggests trofinetide helps brain neurons grow and communicate, while potentially reducing inflammation in the brain.

Children’s and UAB hosted clinical trials for the drug which involved 187 female patients with Rett syndrome ages 5 to 20. Those who received the drug demonstrated significant improvements on caregiver and physician assessments compared to those who received a placebo.

“To actually see a statistically significant difference between the two groups in just 12 weeks is pretty remarkable,” Ananth said. However, she stressed, “this isn’t a cure. But it is different from other medications we’ve been using because it targets the overall well-being of the person as opposed to specific symptoms.”

Anecdotally, Ananth has heard from parents of patients who received the drug that their daughters are more alert and engaged, both of which are important to the success of the various therapies the girls receive. For instance, some patients can be taught to use eye-gaze communication devices since most are nonverbal and can’t use their hands to communicate. “Parents said their daughters who received the drug were using [the devices] better,” she said. One girl who, prior to the trial, spoke only two or three words has now expanded her vocabulary exponentially, Ananth said.

The drug is a liquid administered by mouth or through a gastrostomy tube. The major side effects are vomiting and diarrhea, although clinicians are finding ways to reduce their severity and better manage them.

Another clinical trial is testing the drug in children ages 2 to 5. In addition, two companies have submitted applications to the FDA to start gene therapy trials, Ananth said, and one woman in Canada has received the first such treatment. Other investigational therapies are also under way. “We may very quickly move from an era with no treatments to one with multiple treatments and combination therapies,” she said. “It’s very exciting.”

Neurology & Neurosurgery

Children’s of Alabama neurologists launch SMA clinical trial opportunity

Dr. Michael Lopez is a co-investigator of a clinical trial involving a new drug for spinal muscular atrophy.

A new drug is in late-stage clinical trials at Children’s of Alabama for spinal muscular atrophy (SMA), a rare genetic disease marked by progressive muscle deterioration and atrophy. The drug, apitegromab, has a different mechanism of action than other SMA treatments and is being studied in patients already taking others.

Apitegromab is a human monoclonal antibody that targets the myostatin pathway, which affects muscle cell mass. “The thought is that if you can inhibit this pathway, then you could increase the muscle cell mass,” said Michael Lopez, M.D., Ph.D., co-investigator with Han Phan, M.D., at Children’s. Numerous animal studies show that inhibiting the myostatin pathway increases muscle mass, while overactivation reduces muscle mass.

Apitegromab binds to the precursor (pro/latent) myostatin, preventing its conversion into the active, mature form of the protein. This prevents the muscle cells from receiving the signals to reduce their mass. Because it works differently from the gene-based therapies already available, it’s being investigated as an adjunctive therapy, ideally providing another avenue to building muscle and reversing the weakness and atrophy SMA patients experience. “Muscle is regenerative; it can repair and renew itself,” Lopez said.

Apitegromab is the latest encouraging investigational drug in SMA treatment. In 2016, the FDA approved the first disease-modifying treatment for SMA, nusinersen, which works by increasing the amount of spinal motor neuron (SMN) protein produced by the SMN2 gene. SMA patients have nonfunctional SMN1 genes but several copies of SMN2 genes.

Since then, two other treatments, the gene therapy onasemnogene abeparvovec—which is administered just once to those less than 2 years of age—and the oral therapy, risdiplam—which also alters how effectively the SMN2 gene makes the SMN protein—have been approved.

In the latest clinical trial, called SAPPHIRE, participants must already be taking nusinersen or risdiplam. The trial will evaluate the drug in patients ages 2 to 12 who have SMA type 2 or 3 and can no longer walk. They will be randomized to receive one of two doses of apitegromab or placebo by IV infusion every 4 weeks for a year. Children’s is one of several participating centers in the U.S.

Previously, a phase 2 trial called TOPAZ showed improved motor function, even in patients who couldn’t walk. “The preliminary data was encouraging, but additional study is required,” Lopez said.

The progress that’s been made in SMA in the last few years, which Lopez called “revolutionary and game changing,” would not have been possible without the support of the families enrolling in clinical trials for the currently approved drugs, he said. “And they didn’t know if there would be a benefit, or even if they were in the investigational arm or placebo arm.” He also praised the Muscular Dystrophy Association Clinic at Children’s for the “superb care provided.”

“Every day, I’m in awe of the progress that has been made in treating this disease,” Lopez said. “We have gone from not having any treatment options at all and watching patients succumb to the disease to knowing that every patient now has a different life ahead of them—something that wasn’t imaginable when I started med school.”

Neurology & Neurosurgery

Children’s Neurologist Receives NIH Grant to Explore New Pathway in DMD

Dr. Michael Lopez received a nearly $1 million grant to study a new pathway in Duchenne muscular dystrophy.

What happens when you knock out a ubiquitous protein in muscle that appears to be involved in numerous neuromuscular diseases, including Duchenne muscular dystrophy (DMD)? That’s the question Children’s of Alabama pediatric neurologist Michael Lopez, M.D., Ph.D., and his mentors, University of Alabama at Birmingham (UAB) professor Peter King, M.D., and assistant professor Matthew Alexander, Ph.D., are trying to answer.

Lopez recently received a Career Development Award worth nearly $1 million from the National Institute of Neurologic Disorders and Stroke to better understand a novel pathway involved in the development and progression of DMD.

The disease, which primarily affects males, is caused by a mutation in the gene that encodes for the dystrophin protein, which is critical for musculoskeletal health. Without this protein, muscles degrade over time, resulting in a severe paralysis that affects breathing and eventually causes the heart to fail. Patients typically die in their early 20s or 30s.

There is no satisfactory treatment for DMD. A multidisciplinary approach involving neurology, cardiology, pulmonary care and rehabilitation—among other specialties—helps patients manage the disease. Immune-dampening corticosteroids are the primary medical therapy.

Lopez and his team identified a new pathway involved in the sustained inflammation that underlies the disease. While chronic inflammation is driven, in part, by elevated levels of the cytokine transforming growth factor β (TGFβ1), clinical studies using drugs to inhibit TGFβ1 have been, by and large, unsuccessful. Lopez thinks that’s because the TGF signaling is more complicated, so any attempt to reduce levels must account for downstream signaling via transcription factors, called Smads, that receive instructions from TGFβ.

While it’s been known for some time that the Smad2 and Smad3 factors are important players in the TGFβ pathway, Lopez’s research identified another Smad called Smad8 that is not only turned on in a cellular model of DMD but is 48 times higher than other Smad factors. His findings were published in the International Journal of Molecular Science in July. “It appears to be a previously unrecognized pathway that could cause larger dysregulation of gene expression within the muscle,” he said.

When the researchers silenced Smad8 in cultured muscle cells, they found the cells differentiated into muscle fibers more successfully. “That’s a key experiment because it shows that too much of Smad8 was likely doing the opposite: preventing the muscle cells from differentiating into myofibers,” Lopez said.

The grant provides the funds to breed transgenic mouse lines in which the gene that encodes for Smad8 is deleted in cells destined to become muscle cells. “That way, we can answer the question, ‘Is it necessary for the normal function of muscle, and does it make DMD less severe in the mouse?’” Lopez said. “The premise is that we can intervene on this pathway and reverse these impairments.”

Neurology & Neurosurgery

LITT Device Makes Epilepsy Surgery More Precise, Less Invasive

Surgeons perform a laser interstitial thermal therapy (LITT) procedure at Children’s of Alabama.

A new procedure called laser interstitial thermal therapy (LITT) allows Children’s of Alabama surgeons to take a minimally invasive approach to brain surgery and target tissue for ablation with greater precision.

Usually, patients with drug-resistant epilepsy who experience intractable seizures undergo resective surgery, in which a surgeon removes part of the brain. The procedure is very invasive, however, entailing a craniotomy, or removing part of the skull and cutting through the dura, which covers the brain. Some areas of the brain are difficult to navigate, and removing certain sections, such as the eloquent cortex, can lead to a loss of important functions, such as sensory processing or speech. Resective surgery also requires several days in the hospital and carries a risk of infection and bleeding.

“The small LITT device enables us to get into a deep region of the brain easily and safely,” pediatric neurologist Kathryn Lalor, M.D., said. “We can find the seizure onset with the electrode and then target the same area with LITT.”

The robotic system inserts a 2-to-3-millimeter probe (about the size of the tip on a new crayon) through a hole drilled into the skull. MRI guidance precisely locates the target area responsible for seizures. Once the probe is in place, a burst of laser energy destroys the tissue.

The device was initially FDA approved for temporal and medial structures in the brain, where much of adult epilepsy surgery occurs. Now, Children’s and other pediatric centers are demonstrating its effectiveness at treating epilepsy in other areas of the brain. “There’s a lot of research on how to make the energy delivery even more specific, so no unintended areas are affected,” Lalor said.

Using the device also reduces brain swelling thanks to its less invasive nature. “So, the recovery time is much quicker, and many of these patients go home the next day,” she said. In fact, studies find few complications and a good safety record.

In 2022, the team completed six surgeries using the LITT system.

Neurology & Neurosurgery

Children’s Embarks on Multi-Center Pediatric Migraine Study

Dr. Scott Turner is leading a pediatric migraine study at Children’s of Alabama.

The University of Alabama at Birmingham’s pediatric neurology group at Children’s of Alabama is launching its first externally funded study on migraines this year, marking the start of what they hope will become a robust research program in the area. Such research is needed given that an estimated 17% of children have frequent or severe headaches according to their parents. [i],[ii] The Children’s headache clinic team knows these numbers well—they see hundreds of children with headaches each year.

The five-year study, funded by the Patient-Centered Outcomes Research Institute (PCORI), is a comparative effectiveness trial designed to determine which works better at preventing pediatric migraines: medication (amitriptyline) plus cognitive behavioral therapy (CBT) or CBT alone. Current guidelines recommend using the two together to prevent migraines, but there is limited data on whether CBT is just as effective on its own.

“The big question is, do they really need amitriptyline?” nurse practitioner Scott Turner, DNP, the principal investigator for the Children’s of Alabama site, said. “Or would CBT alone actually be effective?” If it is, he said, patients might not need medication, which always carries a risk of side effects.

CBT teaches kids how their body and brain experience pain and how to use relaxation skills to reduce stress and pain. Therapists also work with patients to help them reduce negative thought and feeling patterns, such as always thinking the worst is going to happen or that a migraine will ruin an important event. Parents learn how to reinforce their child’s active coping efforts. 

Children’s is one of 15 sites participating in the study. Its primary outcome is reducing the number of headache days and migraine-related disability from baseline to 28 weeks. Secondary outcomes include changes in headache severity and effects on the patient’s physical functioning and quality of life. Participants will receive CBT via telehealth, an approach that worked well during the pandemic and provides greater availability. The goal is to recruit about 400 children nationally, and Children’s hopes to enroll approximately 25 patients in the study beginning this spring.

Although he’s in charge of the study at Children’s, Turner initially doubted that CBT alone could be better than CBT with medication. “I would have thought that pill-taking was essential,” he said. But after researching the topic and learning more about CBT, he’s unsure. “I guess we’ll find out in about five years.”


[i] Nieswand V, Richter M, Gossrau G. Epidemiology of Headache in Children and Adolescents-Another Type of Pandemia. Curr Pain Headache Rep. 2020 Aug 25;24(10):62. doi: 10.1007/s11916-020-00892-6. PMID: 32840694; PMCID: PMC7447651.

[ii] Lateef TM, Merikangas KR, He J, Kalaydjian A, Khoromi S, Knight E, Nelson KB. Headache in a national sample of American children: prevalence and comorbidity. J Child Neurol. 2009 May;24(5):536-43. doi: 10.1177/0883073808327831. PMID: 19406755; PMCID: PMC2794247.

Neurology & Neurosurgery

RNS Device Can Reduce Seizures in Children with Epilepsy

Dr. Kathryn B. Lalor is a pediatric neurologist at Children’s of Alabama.

A new procedure that can reduce the number and severity of epileptic seizures in children is now available at Children’s of Alabama. The NeuroPace RNS®, or responsive neurosurgical stimulation, is a small device about the size of a matchbox. When placed inside the skull with two wires attached to the brain surface and/or inside the brain, it monitors and responds to brain signals, often short-circuiting a seizure before it begins. It’s been approved for use in adults since 2013, but with recent studies on its safety and effectiveness in children, more centers like Children’s are now offering it “off label” to patients whose seizures don’t respond to medication and/or other surgical interventions.

“It’s an adjunctive therapy, meaning we don’t do it as an initial treatment or thinking someone will necessarily be cured, although that is always our goal,” pediatric neurologist Kathryn B. Lalor, M.D., said. In a multicenter study of 17 patients under age 18, the average number of seizures fell 54.4% over the 1.7-year follow-up. Most patients also experienced less intense, shorter or less frequent seizures. One patient became seizure-free, although four showed no improvement.[1]

The device wouldn’t be a first step in managing seizures, Lalor said, because it’s surgical. “We would only undertake it if we know the seizures can’t be controlled with medications alone,” she said. It also has advantages over medications, including fewer, if any, long-term side effects. One major benefit of the device is that it seamlessly uploads data on its activity to a database clinicians can access, enabling them to track and measure seizures objectively.

“Right now, we know about seizures we witness,” Lalor said. “But there are silent seizures or ones that happen during sleep or when no one is around.” Better data enables doctors to ensure they’re treating all the seizures because even silent seizures can have an effect. With this data, she said, the team can remotely adjust the amount of stimulation the device sends and/or change a child’s medication.

While the device is still not FDA-approved for children, Lalor said more insurance companies are covering it, and a growing number of hospitals offer it with successful outcomes. There is also an ongoing multi-center trial—including the University of Alabama at Birmingham—evaluating its use in adolescents ages 12 to 17.

 “We’re excited to be able to offer this,” Lalor said. The team hopes to implant the first device early this year.


[1] Nagahama Y, et al. Real-World Preliminary Experience With Responsive Neurostimulation in Pediatric Epilepsy: A Multicenter Retrospective Observational Study. Neurosurgery. 2020;39(6):997-1004.

Inside Pediatrics, Neurology & Neurosurgery

New Clinic Looks for Links Between Neurology and Genetics

Children’s of Alabama has a specialized clinic in neurogenetics.

Some neurologic conditions have a genetic basis, and some genetic conditions manifest with neurological symptoms. With so much crossover, Children’s of Alabama created a specialized clinic in neurogenetics. 

“I get a lot of referrals from my neurology colleagues and my genetics colleagues,” said Amitha Ananth, MD, who completed a fellowship in medical genetics as well as neurology. “Creating the clinic allows us to focus in on these problems rather than seeing the children individually. It also provides a good teaching environment for trainees in neurology and genetics to see the overlap.”

Neurogenetics is a growing field of study designed to better understand genetic causes of brain disorders, and to diagnose and treat these conditions. 

Ananth sees children and families together with a genetic counselor to discuss genetic risks and the benefits of testing. “It’s really helpful to have a genetic counselor explain and guide the discussion about testing,” she said. 

So how did she become interested in neurogenetics? “I was always going to be a neurologist,” she said. “I found the brain and the nervous system really fascinating. And in medical school, I found I enjoyed the pediatric version of it so much more.” 

Ananth went to Stanford to complete the medical genetics fellowship after realizing she didn’t have enough genetics background to feel comfortable with gene sequencing and understanding the results. “There are definitely people in child neurology with significant research backgrounds who are quite comfortable with genetics, but as a purely clinical child neurologist I felt I needed the extra training to gain this expertise.” 

A lot of pediatric neurology has a genetic basis, she said. The affordability and accessibility of broad-based genetic testing, such as whole exome sequencing, is relatively new but provides important information in difficult-to-diagnose cases. “What I learned during my training was that the next big revolution was going to be in diagnosing neurogenetic conditions with the hope that we would work toward treating them.”

That’s already happening with groundbreaking new treatments for genetically based pediatric neurologic diseases such as Duchenne’s muscular dystrophy and spinal muscular atrophy (SMA). Ananth remembers when she was in residency, and SMA was a death sentence. “There was no treatment. Now there is,” she said.   

Inside Pediatrics, Neurology & Neurosurgery

Headache Checklist Supports Primary Care Providers and Helps Patients Find Relief Faster

The Children’s of Alabama’s PCP Headache Referral Checklist is helping doctors evaluate and treat headache patients.

Even kids get headaches. Lots of headaches. A U.S. survey found that 17 percent of children had “frequent or severe headaches” according to their parents, and that rate is thought to be as high as 30 percent among post-pubescent children.[i]

The UAB pediatric neurology group at Children’s of Alabama knows the numbers. Headache is the second-most common referral to their practice. In 2019, for instance, they received at least 40 referrals a month of children with headaches, and that number has skyrocketed since the start of the pandemic. And that, according to UAB Child Neurology Residency Program Director and pediatric neurologist Sarah Novara, MD, MSHQS, makes it difficult to effectively triage patients into available appointment spots. 

“Our goal is to best help these children be evaluated and managed, but we knew our referral process was not what it could be,” she said. At the same time, the neurology group also recognized community pediatric providers could help many of the patients they referred if they had the tools to succeed, freeing up neurologists to see those who required more complex care.

“It became apparent that we weren’t educating the community providers well enough so they would feel confident managing primary headache disorders in children and adolescents,” neurology faculty Scott Turner, DNP, said. That’s important because most headaches are not caused by a life-threatening condition like a brain tumor, which is exceedingly rare. 

Evaluating and treating headache patients as quickly as possible is critically important given that migraine, a very common headache type, is the second leading cause of disability in the world.[ii] Plus, recurrent headaches in children can significantly impair their quality of life, leading to missed school and missed opportunities for successful learning.

The pediatric neurology team embarked on a mission from 2019 to 2020 to better educate primary care providers about pediatric headaches and, in turn, create a better system of triage and communication to the pediatric neurology group.

The result is the PCP Headache Referral Checklist. With a large, red stop sign front and center, the message is clear: referring providers need to work through the brief checklist to check for headache red flags that should prompt a referral to the emergency department. These include:

  • Focal neurologic deficit 
  • Altered mental status, high fever and neck rigidity
  • Sudden severe headache (called a “thunderclap headache”)
  • Papilledema
  • Headaches that wake the child from sleep 

They also document special circumstances that may necessitate an earlier appointment with the neurology team, such as headaches that recur 15 times or more a month. 

The checklist also contains tools to help primary care providers manage their patients’ headaches while they wait for their visit with a specialist, including medication doses, a link to the Alabama State Department of Education school medication permission form, and a link to the Headache Relief Guide, an online portal specifically designed to help children learn about headaches and how to prevent and treat them. A QR code provides a link to the American Academy of Neurology and American Headache Society guideline for the acute treatment of migraine in children and adolescents. 

“The primary care provider has often done a very good workup of the child,” Novara said. “The checklist helps us see that and avoid redundancies.”

The team piloted the form with three Birmingham pediatric practices, where it proved highly successful for both the referring provider and neurology team triaging. “We didn’t know if they would go for it,” Novara said. “They’re busy, and they already have a lot of forms to fill out, but they loved it.”

“(Nurse practitioners) don’t get a lot of guidance or training in headache,” Turner said. And the time primary care providers can spend with patients is limited. The checklist, he said, “gives them the support to make decisions for themselves.”

Today, the checklist is required with the referral. A pediatric neurologist or nurse practitioner reviews it and triages the patient for appointments. Even before the child is seen by the pediatric neurology group, however, the primary care provider can start some of the interventions listed on the form. “This is empowering and also helps the family see that the referring provider is on the same wavelength as the pediatric neurology team at Children’s of Alabama,” Novara said. 

One important outcome is a better-quality referral, she said. “We have more information and are better able to care for the patient.”

In the meantime, the number of kids with headaches is increasing due to COVID. For some, recurring headaches are a lingering symptom of a COVID infection. In other cases, Turner said, parents held off seeking care during the height of the pandemic. Plus, the pandemic itself took a toll on children’s mental health. “When you completely turn a child’s life upside down, you’re going to end up with a lot of stress, which we know is a common comorbidity with chronic pain.”

In addition to the universal use of the headache referral checklist, the team is also reaching out to community providers through social media and hosting webinars and other educational activities about pediatric headache. “Primary care providers really seem to want this information,” Turner said. 


[i] Lateef TM, Merikangas KR, He J, Kalaydjian A, Khoromi S, Knight E, Nelson KB. Headache in a national sample of American children: prevalence and comorbidity. J Child Neurol. 2009 May;24(5):536-43. doi: 10.1177/0883073808327831. PMID: 19406755; PMCID: PMC2794247.

[ii] Powers, Scott W., et al. “Prevalence of Headache Days and Disability 3 Years After Participation in the Childhood and Adolescent Migraine Prevention Medication Trial.” JAMA Network Open, vol. 4, no. 7, American Medical Association, 2021, pp. e2114712–e2114712,

Inside Pediatrics, Neurology & Neurosurgery

Birmingham to Cape Town: Children’s Neurologist Consults Across Continents

Leon Dure, MD, neurologist trained in pediatric movement disorders at Children’s of Alabama.

It’s not easy to find a specialist trained in pediatric movement disorders. At Children’s of Alabama, there are two: Leon Dure, MD, and Emily Gantz, DO. They and their multidisciplinary team provide the bulk of care for children with movement disorders in Alabama and beyond. 

Considering the dearth of movement disorder specialists here in the U.S., Dure wondered what the numbers were like in Africa. His curiosity led him to become a consultant to a pediatric neurologist in Cape Town, South Africa. 

Dure’s interest in helping physicians in under-developed countries was piqued through his work with the International Child Neurology Association (ICNA), which seeks to foster education and resources for practitioners in low-resource environments, such as South Asia, Africa and South America. 

He recalls a meeting where a doctor from sub-Saharan Africa presented. “She said there are 80 million children under the age of 18 within that region and two or three neurologists,” Dure said. “So, I realized that the types of problems and issues they’re facing are very different from what we face here.”

In the U.S., Dure often receives requests from colleagues for his opinion on a child, typically via a video sent by text. Why, he wondered, couldn’t the same be done for clinicians in low- and moderate-income countries?

Turns out it wasn’t quite so simple, given the challenges of moving information from places as disparate as South Africa and Birmingham. Dure persevered and found vCreate, a tech company that works with the U.K.’s National Health System to provide secure video messaging. There is even a separate unit called vCreateNeuro, a cloud-based service that allows registered patients and clinicians to securely share smartphone-recorded videos. 

He and vCreate developed a proof-of-concept project with a neurologist who has an interest in movement disorders at the Red Cross Hospital in Cape Town. When he has something he wants Dure to review, the neurologist uploads it to the vCreate platform, and Dure gets an email alert. 

“Then we begin a back-and-forth regarding what to call it, what to do about it, how to work it up, et cetera,” he said. 

The pilot has been in place for about six months, and Dure has consulted on about eight videos. 

“These are relatively unusual conditions that are very difficult to characterize,” he said. “So just having someone else say ‘Yeah, you got it, you’re right,’ is quite helpful.”

Dure would like to grow the program to other countries with other U.S.-based pediatric neurologists providing their expertise, but that will require funding. For now, vCreate has been providing the technology for free. “I don’t know if that’s going to be a long-term possibility,” he said. “But so far, it works. And I’m able to provide my expertise to somebody in Cape Town without a whole lot of effort.”

Inside Pediatrics, Neurology & Neurosurgery

Epilepsy Transition Clinic Helps Adolescents Move to Adult Care 

At right, Kathryn Lalor, M.D., is a pediatric neurologist at Children’s of Alabama and an assistant professor in the Division of Neurology in the University of Alabama at Birmingham Department of Pediatrics. At left is epilepsy specialist Quynh Vo, M.D., of the University of Alabama at Birmingham.

At right, Kathryn Lalor, M.D., is a pediatric neurologist at Children’s of Alabama and an assistant professor in the Division of Neurology in the University of Alabama at Birmingham Department of Pediatrics. At left is epilepsy specialist Quynh Vo, M.D., of the University of Alabama at Birmingham.

Adolescents are not known for self-discipline. Yet that’s exactly what teens with epilepsy need in order to avoid seizure triggers, like lack of sleep and alcohol consumption. They also must be vigilant about taking their medication. However, as young people become young adults and start to manage their care independently, “these are the hardest things to do,” said Children’s of Alabama pediatric neurologist Kathryn Lalor, M.D. 

Which is why young adulthood carries a high risk of recurrent seizures, particularly as epilepsy patients transition from pediatric to adult neurology. “Many of these patients have had epilepsy for a long time, and they’ve been diagnosed and cared for by the same neurologist for a long time. It can be very scary and disconcerting to change that, especially as you’re coping with so many other things,” Dr. Lalor said. 

Then there are the difficulties on the medical side, such as electronic medical record systems that don’t talk to each other, making transitioning between providers difficult. “We were hearing from our adult colleagues that they just didn’t have the information they needed,” Dr. Lalor said. “It was like starting over with the medical history.” 

Which is why Dr. Lalor and her team started one of the first epilepsy transition clinics in the country. “We really wanted to improve the process from a logistical and informational perspective but also help guide these patients through the process.” That’s particularly important given the impact of epilepsy on daily life. “It affects school, being able to drive, your job,” she said. “And we really wanted to be a place where we could help young adults gain their footing in their life.” 

Now when the pediatric neurologist refers the patient to the adult provider, they gather all the pertinent data and meet together with the patient. 

The young person also completes a transition-readiness assessment questionnaire, a validated tool specifically for epilepsy, to determine how ready they are to independently manage their disease. “And if there are any places where they’re still behind, still not doing things quite on their own, we set ‘homework’ goals for them for the next visit,” said Dr. Lalor. Clinic staff follow patients until they are fully managing their own care or until the staff feels they’re stable and ready to transition, at which point most patients continue with epilepsy specialist Quynh Vo, M.D., of the University of Alabama at Birmingham. 

The clinic is so busy that in December 2021, staff added a second day a month. The next step, Dr. Lalor said, is to implement national guidelines that recommend beginning transition at age 12 and add case management and social workers to the team.