Posts

Maddox and family

Family love and the right care for neurofibromatosis type 1 give Maddox a fresh start

Maddox and family

Maddox and his family in early 2020.

13-year-old Maddox Gibson is learning to cook. He says he wants to be a chef and wants to make meals for people who need it most — the homeless and the hungry.

It makes sense that he’s eager to help people who need it. As a young child growing up in a group home in his native country of China, he knows firsthand how important that support can be. In 2017 at age 10, he found his own endless supply of love and support when he met and was adopted by the Gibson family.

Zhen Chao, now called Maddox, was born in China with a genetic condition called neurofibromatosis type 1 that can cause painful or disfiguring tumors called plexiform neurofibromas. Zhen Chao had two on his head when he arrived — on his scalp and on his left optic nerve — which had been largely untreated for most of his life in China. On top of that, his right leg had been fractured and not fixed properly years before, causing him pain and weakness that left him wheelchair bound.

Adoptive mom Lindsey, a registered nurse, knew he would need special care to meet all the unique challenges he faced, and she’d done her homework — he needed the expertise of Miriam Bornhorst, M.D.,  and the Gilbert Family Neurofibromatosis Institute at Children’s National Hospital to help him thrive in his new life in the U.S. Since shortly after he came to the U.S., Lindsey has been driving Maddox the 6-plus hours from their home in North Carolina to Washington, D.C., regularly, to get care for all of his health challenges.

Maddox’s optic neurofibroma was too large when he arrived at Children’s National for a simple surgical removal. Due to her role as the lead investigator on a cutting edge clinical trial for the orphan drug selumetinib — a so-called MEK inhibitor that has shown early promise at reducing the cell growth of tumors like plexiform neurofibromas, Dr. Bornhorst enrolled Maddox in a compassionate use program for the drug, an opportunity that is not widely available. The drug was initially developed for something completely different — treatment of melanoma and non-small cell lung cancer in adults–but has been adapted through its FDA orphan drug designation for pediatric clinical trials in NF1. In the time since Maddox started taking it, it was approved for use in NF1 patients by the FDA.

The trial drug did its job — in late 2019, Maddox’s tumor had shrunk enough that chief neurosurgeon Robert Keating, M.D., and plastic surgeon Michael Boyajian, M.D., were able to successfully remove it. Follow-up procedures led by that team have also worked to repair the tissue that was impacted by the optic neurofibroma.

In addition to treatment of his neurofibromas, Maddox and his mom are able to see every service they need during one stay in D.C. The Neurofibromatosis Institute works closely across specialties, so his corrective surgery for his leg from Children’s chief of orthopaedics, Matthew Oetgen, M.D., MBA, in September 2019. He was assessed and prescribed physical therapy early in the process and even before surgery, so now he’s stronger than ever and walking. Learning difficulties, including autism and ADHD are common in NF1 patients, and so the NF Institute’s neuropsychology team has evaluated him and worked with the family to find resources and strategies near home that will support him. It should be noted, those learning difficulties only became apparent after Maddox taught himself English from scratch in only two years’ time with the help of his school’s ESOL program.

This kind of full spectrum care, from clinical assessment to surgical treatment and psychological supports, is crucial to the lives of patients with neurofibromatosis type 1 and is only available at a pediatric specialty care institution like Children’s National. The hospital has gathered some of the preeminent researchers, surgeons, and physicians within the NF Institute to make sure that the care families will travel hundreds of miles to receive is the best possible, using the latest evidence-based treatments for every challenge they face.

Though his care and follow-ups will continue at Children’s National Hospital and his condition may pose  new challenges in the future, for now, Maddox is able to focus on exploring new things and doing what he loves — playing outdoors with his family, learning to cook and building with Legos.

MRI of the patient's head close-up

Madison Berl, Ph.D., receives 2020 PERF award for Infrastructure/Registry Research

MRI of the patient's head close-up

The Pediatric Epilepsy Research Foundation Grant (PERF) has awarded Madison Berl, Ph.D., neuropsychologist at Children’s National Hospital, the 2020 PERF award for Infrastructure/Registry Research. The funds will support her work on researching neuropsychological outcomes of children being considered for pediatric epilepsy surgery.

This grant, which provides $200,000 of research funding, will allow Dr. Berl to systematically collect data outcomes and create robust prediction models that are critical to achieving precision medicine that allows for selecting the most effective surgical treatment for an individual child.

“While seizures are a critical outcome, there is increasing recognition that outcomes beyond seizure control is critical to children and their families when evaluating and treating the impact of epilepsy and its treatments,” said Dr. Berl.

Guidelines and consensus statements related to pediatric epilepsy surgery are uniformly lacking high quality published outcome data to support clinical decisions that impact likelihood of seizure freedom and optimizing outcomes beyond seizures (e.g., neuropsychological functioning, quality of life, improved sleep). Despite recognition of the need for standardized collection of data on a multi-institutional basis, the efforts that exist are limited in scope.

Moreover, as new techniques – such as laser ablation and brain stimulation – are approved for pediatric patients, there is little information available to determine which children will benefit from which intervention.

“This project fundamentally is a multi-site registry for epilepsy surgery outcomes,” Dr. Berl added.

“However, this type of infrastructure also fosters growth and active collaboration within a network of pediatric epilepsy clinicians. I am excited because if successful, this will be the start of long-term collaborative effort.”

Kristina Hardy

Kristina Hardy awarded St. Baldrick’s Foundation research grant for supportive care

Kristina Hardy

Kristina Hardy, Ph.D., pediatric neuropsychologist within the Division of Neuropsychology at Children’s National Hospital, was a recipient of a $60,000 grant for children with acute lymphoblastic leukemia (ALL), a cancer of the blood, from the St. Baldrick’s Foundation, the largest charitable funder of childhood cancer research grants. .

Dr. Hardy along with her co-principal investigator in this project, Dr. Sarah Alexander, an oncologist from the Hospital for Sick Children in Toronto, study neurocognitive difficulties in survivors of pediatric cancer. Through their research, both doctors will examine the potential connections between specific anesthesia medications, their doses, the amount of time they’re given and the chances of patients having learning problems later on in life. This critical research will be important for patients, families and clinical teams in helping to make the best choices for anesthesia use.

“About 20-40% of children who are diagnosed with ALL develop problems with thinking and learning after treatment,” said Dr. Hardy. “This research is exciting because if certain types or amounts of anesthesia are shown to increase risk for cognitive changes in survivors, we may be able to quickly change the way that we use anesthesia to lessen the risk.”

The St. Baldrick’s Foundation is on a mission to defy childhood cancers by supporting the most promising research to find cures and better treatments for all childhood cancers. As a leader in the pediatric cancer community, St. Baldrick’s works tirelessly to ensure that current and future children diagnosed with cancer will have access to the most cutting-edge treatment from the best leaders in the pediatric oncology field.

girl talking to doctor

Clinicians and transgender autistic youth create support model

girl talking to doctor

Young people with the co-occurrence of autism and gender diversity and their families partner with clinical researchers to understand care needs and how care providers can meet those needs.

The first ever set of specific recommendations to support transgender autistic young people was co-created by these youth and their families working hand-in-hand with clinical experts. The resulting model offers clinicians a set of concrete ways to provide this unique population the support they need.

The recommendations, A Clinical Program for Transgender and Gender-Diverse Neurodiverse/Autistic Adolescents Developed through Community-Based Participatory Design, were published by the Journal of Clinical Child and Adolescent Psychology on May 4, 2020.

“The idea of patients helping to co-design their own care isn’t new, but including the perspectives of autistic youth in their own care is quite new,” says John Strang, Psy.D., who directs the Gender and Autism Program within the Center for Autism Spectrum Disorders at Children’s National Hospital.

He continues, “And for the many youth who are both transgender and autistic, including their voices and perspectives in their clinical care is critical. Without their input, there is a great risk for misunderstanding their needs – and for marginalization.”

“This was an important process in which to participate, and will hopefully help those — autistic people, trans people, and autistic trans people alike — who often only see themselves represented by cisgender, neurotypical researchers and providers. It is a relief to be a part of creating something like this,” adds Marisa Alexa McCool, a co-researcher who is an autistic transgender woman.

The new publication builds on previously published broad clinical guidelines for providers, now integrating the perspectives of autistic transgender individuals themselves. The program includes specific approaches for supporting young people in their diverse needs, and identifies three key components central to this care:

  1. Helping autistic, gender-diverse young people build community together, which they need and often want, in contrast to clichés about lack of desire for social contact in autism. Many autistic transgender young people prior to entering clinical care have never met another person who is transgender and autistic. The connections that they built with one another through this new clinical care model were critical in helping them develop a positive sense of identity and to know that they are not alone in this world.
  2. Introducing the youth to a broad spectrum of gender diverse and/or neurodiverse role models helps make possibilities for their future more concrete, and builds a sense of hopefulness and pride. Abstract concepts such as gender or future gender can be particularly challenging for autistic youth. The new care model addresses this by providing these youth opportunities to meet and interact with a range of living role models who represent various gender identities as well as neurodiversity experiences. “Being able to see and hear about the diverse journeys of adults who have already navigated gender and/or autism-related diversity has been helpful in making the various options more tangible for gender diverse autistic youth,” says Dr. Strang. “The chance to meet role models with different gender-related experiences – transgender, cisgender, exploring – has helped autistic gender diverse youth to better figure out what is most true for them and what they need from us.”
  3. Supporting the gender expression needs of autistic transgender youth through gender style coaching. Because of autism-related sensory sensitivities and problems with planning and social understanding, autistic transgender young people often have difficulty achieving their desired gender transition. Gender-style coaching can help autistic youth reach their gender-related goals in ways that accommodate and support the young person’s autism-related challenges.

The perspectives included in the new clinical program were from a range of ages and backgrounds, as well as across multiple points in time to make sure that as youths’ own views evolved, their evolving needs were captured as well.

The authors created a specific clinical guide to complement the publication, which is available on the Children’s National website.

“We’re so happy to have been able to partner with self-advocates from the autistic transgender and gender diverse communities, youth who are living this experience, and their families, to co-create a community-driven model that can be used for kids seeking guidance and support,” says Dr. Strang.

“We hear over and over again that what parents and care providers really need are concrete tools to support young people with co-occurring autism and gender diversity, so that’s what we sought to do here,” he concludes. “It’s exciting because, for the first time, we have some simple tools to support these kids. And this is critical, because although the co-occurrence of autism and gender diversity has been of great interest to researchers, nearly all studies to date have focused on how many transgender youth are autistic, instead of how to help and support this poorly understood group.”

Karin S. Walsh, Psy.D., and Gerard Gioia, Ph.D., in the Division of Neuropsychology pilot robotic telepresence technology to improve video visits.

Neuropsychology pilots robotic telepresence technology for telehealth

Karin S. Walsh, Psy.D., and Gerard Gioia, Ph.D., in the Division of Neuropsychology pilot robotic telepresence technology to improve video visits.

Karin S. Walsh, Psy.D., and Gerard Gioia, Ph.D., in the Division of Neuropsychology pilot robotic telepresence technology to improve video visits.

The telehealth program at Children’s National Hospital continues to expand access to remote specialty care for families, as well as increase consultation and liaison services to hospitals and clinicians who lack specialty care services on site. The Children’s National Division of Neuropsychology has been a leader in adopting multiple telehealth services including direct-to-consumer video visits, psychotherapy video visits, provider consultations and provider training and supervision.

Telehealth as a whole has been shown to increase access to care, with video visits in particular showing greater clinical and educational impact compared to telephone communications. Despite this, one key limitation has been the immobility of technology used to capture video visits.

To solve for immobility, Karin S. Walsh, Psy.D., is leading a pilot study testing the feasibility and acceptability of telepresence robotics in the division. Robot telepresence devices provide a unique approach to video visits, allowing for extended physical mobility and presence, while expanding interactions between providers and patients, supervisors and trainees and in educational interactions. Traditional video visits demonstrate good feasibility and acceptability by patients, families and staff. This new approach aims to increase the “presence” of the provider and further improve clinical impact, educational impact and patient satisfaction.

The division will initially incorporate two robots into clinical care beginning in May 2020.  The pilot study is expected to be carried out over the next 12-18 months, which is particularly timely given the COVID-19 pandemic. The robots, from Double Robotics, offer a high-tech, secure, integrated platform in a device that is user friendly and effective for moving freely through the clinical environment.

“With the addition of the telepresence robots, we anticipate an increase in the quality of care and access for patients and families to neuropsychological specialty care,” says Dr. Walsh. “In addition, given the geographic separation of the program – faculty and trainees are spread across six different locations – the versatile technology will increase the division’s ability to include clinicians with particular expertise into clinical sessions and consultations, as well as in training programs.”

After the pilot study, the team will assess the acceptability of robotic telepresence technology and the special qualities that this modality may offer to enhance quality of care within neuropsychology and within collaborating medical teams.

Gerard Gioia

Concussion prevention and better management of youth concussions headline Sports Neuropsychology Society Concussion Symposium

Gerard Gioia

Gerard Gioia, Ph.D., an internationally recognized expert in pediatric concussion management, was named president of the Sports Neuropsychology Society at the conclusion of this year’s meeting.

“We know how critical it is to identify and appropriately treat every concussion, particularly when they happen early in an athlete’s career,” Children’s National President and CEO Kurt Newman, M.D.,  told a crowd of nearly 300 sports concussion experts gathered in Washington, D.C. for the Sports Neuropsychology Society’s (SNS) 6th Annual Concussion Symposium.

Children’s National served as a title sponsor of the conference, which serves as the annual meeting for SNS. Each year, members from around the world meet to share best practices in sports-related concussion management through presentation of evidence-based studies on a wide range of related topics. This year’s presentations included topics such as:

  • Sex differences in sport-related concussion: Incidence, outcomes and recovery
  • Concussion Clinical Profiles and Targeted Treatments: Building the Evidence
  • Legislative advocacy and the sports neuropsychologist
  • Treatment of concussion in kids: What we know, what we think we know, and what we need to learn

“This meeting and its agenda, held in D.C. where we’ve done so much work on understanding concussion management for children, is particularly meaningful for me because it really drives home our key message of a link between active participation in sports, appropriate recognition, management of youth concussions and the developing  athlete’s brain health,” says Gerard Gioia, Ph.D., division chief of neuropsychology and director of the Safe Concussion Outcome, Recovery and Education (SCORE) program at Children’s National.

Dr. Gioia, an internationally recognized expert in pediatric concussion management, was named president of the society at the conclusion of this year’s meeting, which was held in Washington, D.C. from May 3-5, 2018. During his two year term, he will work with members to advance the mission of SNS, which seeks to advance the field of neuropsychology to generate and disseminate knowledge regarding brain-behavior relationships as it applies to sports, and to promote the welfare of athletes at all levels.

“The way we can really help our youth athletes is by understanding how we can maximally prevent concussions in sports, and how we can manage those earliest concussions more effectively to minimize the negative long term consequences,” says Dr. Gioia.