For children born with neurofibromatosis (NF), a group of genetic conditions that can affect multiple organs of the body, receiving proper medical treatment is just one part of the equation. That’s because NF also brings a host of developmental, behavioral and emotional challenges — from autism to ADHD to depression — which vary greatly from child to child.

The launch of a new pediatric NF program at Kennedy Krieger Institute is a strategic expansion of the well-established Johns Hopkins Comprehensive Neurofibromatosis Center. Founded over 20 years ago, the center is a global leader that has helped set care standards and improve outcomes for people with NF, both through direct clinical care and field-changing research. 

The addition of the Kennedy Krieger Institute Pediatric Neurofibromatosis Program at the Johns Hopkins Comprehensive Neurofibromatosis Center gives families direct access to a full range of developmentally informed services for children with NF, from birth through adolescence. 

Stephanie Morris

“NF is one of the most common rare diseases, occurring in about 1 in 2,600 children,” says program director Stephanie Morris, a pediatric neurologist at Kennedy Krieger. “The way each child presents with NF is highly variable, even within the same family, so it’s crucial to provide individualized, multidisciplinary care. Our new program means families can get everything they need here on one campus in East Baltimore.”

When children first visit the pediatric NF program, they receive a comprehensive evaluation from Morris’ team. This includes medical and neurological assessment, developmental and behavioral evaluation, and genetic testing when necessary.

Based on the outcome of that evaluation, the pediatric NF team develops a personalized care plan tailored to each child’s needs. Many behavioral and mental health concerns commonly seen in NF, including ADHD, anxiety, emotional regulation challenges, executive functioning difficulties and autism can be evaluated and managed directly within the pediatric NF clinic. When additional expertise is needed, families also have access to a wide range of specialized services, including comprehensive neuropsychological testing, child and adolescent psychiatry, behavioral therapy, psychology, speech-language therapy and other developmental specialties within Kennedy Krieger.

Ongoing monitoring by clinicians in the pediatric NF program — whether every few months or annually, based on the child’s needs — ensures that any complications that arise in a young patient can be identified early and managed appropriately.

Because neurofibromatosis often affects multiple members of a family, managing care and juggling appointments can be difficult and disruptive, especially for families traveling from a distance. “We are mindful of that, and have developed a family-centered model of cross-generational care,” says Morris. “So if Mom is coming in to have an MRI and lab work done at Johns Hopkins Medicine, we reach out to schedule any needed appointments for her children at Kennedy Krieger on the same day, if that’s their preference.”

Around age 16, children in the NF program at Kennedy Krieger will transition into adult NF care at Johns Hopkins Medicine.

“We’ll ensure a ‘warm handoff,’” says Jaishri Blakeley, who founded and heads the Comprehensive Neurofibromatosis Center. Thanks to strong communication and collaboration between Johns Hopkins Medicine and Kennedy Krieger Institute, she says, “Our team will know what a child experienced at age 2, and will keep that in mind when we are recommending treatment at age 22.”

Looking ahead, Morris plans to build out and lead a robust program of clinical trials for pediatric patients with NF to complement the clinical research portfolio of the Comprehensive Neurofibromatosis Center, which will draw upon Kennedy Krieger’s well-established infrastructure supporting scientific investigation into children’s learning, development and behavior.

“Until now, the focus on clinical trials in adult NF has primarily been on developing therapeutics to address tumors,” says Morris. “Now we will expand to create trials focused on young patients’ neurodevelopment.”

To schedule an appointment with the Pediatric Neurofibromatosis Program at Kennedy Krieger Institute, call 410-502-6732.