Clinical Challenges: Cognitive and Psychosocial Support in Neurofibromatosis

The clinical heterogeneity of genetic tumor-causing conditions that fall under the umbrella of neurofibromatosis (NF) extends to neurocognitive impacts, but the psychosocial impact is more universal.

"Neurofibromatosis as a whole -- NF [type] 1, NF2, schwannomatosis [SWN] -- is so heterogeneous," said Ethan Lester, PhD, of the Massachusetts General Hospital Center for Health Outcomes and Interdisciplinary Research in Boston.

The first priority is understanding what the deficits are for an individual patient, agreed Roger J. Packer, MD, of the Gilbert Family Neurofibromatosis Institute at Children's National Hospital in Washington, D.C. "No one size fits all."

Neurocognitive Impacts

A recent systematic review of NF1 noted that neurological complications ranging from optic nerve glioma, macrocephaly, epilepsy, and multiple sclerosis are not uncommon. "Attention deficit-hyperactivity disorder and learning disabilities frequently co-occur in NF1, affecting approximately 40% and 30%-60% of patients, respectively," while autism spectrum disorder affects 25-30%, according to the review.

Overall cognitive performance had "moderate" decrements in NF on the order of one standard deviation across studies in the review, often putting IQ in the "low-average" range of around 85 to 90. Executive function appears among the most commonly affected domains, along with larger deficits in performance intelligence, visuospatial abilities, verbal intelligence, math, and writing.

"The appearance of these cognitive impairments closely proceed the onset of the hallmark features of this condition and often emerge in early childhood (ages 3-5 years), necessitating neuropsychological or psychoeducational evaluation for these patients," the review authors pointed out.

A multidisciplinary approach with psychologists, neuropsychologists, neurologists, and educational specialists can help define the best game plan for each patient, Packer said.

"We need to carefully define out what the child's challenges are and what their needs are, and then work with the school system and with the family to try to give them enough support to succeed in school," he told MedPage Today. "For some children, that's all they need. For other children, they need something to help them with their attention or their associated anxiety, and drugs could be very helpful there. ... For children with very severe problems, we might need to have other kinds of more extensive cognitive interventions."

Parents are an important part of the equation too, as typical for chronic childhood conditions, Lester noted. The healthcare team can help by "making sure that parents have the right psychosocial and emotional resources to be able to parent these children who have these complex illnesses. ... Let the symptoms and the medical presentation lead your resource seeking."

The less common NF types classified as SWN, including NF2-related SWN, may have cognitive impacts related to brain trauma from tumors growing in the brain or treatments for them. Some people with NF2-SWN develop meningiomas and ependymomas; tinnitus, hearing loss, and balance problems are among the most common symptoms.

Chronic pain is a hallmark of SWN and common in NF1 as well.

Psychosocial Aspects

Across the board in NF, patients face the same psychosocial issues as those with other chronic medical illness, Lester noted.

"Our interventions are a drop in the bucket in terms of what the psychosocial needs are of these patients," he said, pointing to the paucity of research in this area.

"Neurofibromatoses share poor quality of life (QOL), depression, anxiety, and stress associated with symptom burden, difficulties getting appropriate medical care, and social isolation," Lester's group wrote in JAMA Network Open. "Very few pilot and no fully powered efficacy psychosocial randomized clinical trials of adults with NF have been published."

His group has studied a chronic illness support intervention adapted for NF. Dubbed the Relaxation Response Resiliency Program for Neurofibromatosis (3RP-NF), this remote psychosocial program involved weekly virtual group sessions teaching skills for relaxation and mindfulness, adaptive coping, acceptance, problem-solving, and positive psychology.

Compared with providing educational NF information modules alone with a similar level of attention from study staff, both improved physical and psychological quality of life to a similar degree initially. By 12 months, though, only the psychosocial skills training group still had significant benefits.

"And so it had us scratching our heads a little bit," Lester said. "And what we think that's about, to some extent, is the effect of just having groups of people who have NF together, sharing their experiences and being part of [a community]. So I think that really speaks to the social aspect of these interventions, is that it's not good enough to just give somebody skills for how to relax or manage stress or cope better. It's important for people to connect with one another who have this illness."

For patients who might not have access to a specialty center, Lester suggested using online resources and regional and national patient organizations. "Plugging your patient into one of these organizations is like turning on a light in a dark room."

Packer noted that more and more multidisciplinary programs are available but not yet accessible to all patients.

"It's very rewarding when you get a child into the right kind of educational setting, give them the right support," he said. "We have children now graduating college and living independently, going to graduate school; children who've had tumors behind the eyes who have very functional vision and are living very normal lives; children who've had plexiform neurofibromas and significant motor impairment, who are doing so much better with the MEK inhibitors."

"So we do have patients that have major success stories. We just don't have it for everybody," he added.

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