Cancer Summit, Social Cues in Autism, Leigh Syndrome, Epilepsies

 

By Jillian Rose Lim and Nancy McCann

CHOP researchers are constantly revising what we know about conditions and care outcomes in children's health. This week in the news, we see them discover how a mitochondrial disorder can be diagnosed earlier than previously thought, suggest additional factors to consider in the quality of life for epileptic patients, and identify valuable ways to improve social communication for autistic youth.

John Maris, MD

Inaugural 'Personalizing Pediatric Cancer Care' Summit Hosted by CHOP

World-class experts gathered at the Rittenhouse Hotel March 10 and 11 for the "Personalizing Pediatric Cancer Care" summit hosted by CHOP's Cancer Center and the Department of Pathology and Laboratory Medicine. This inaugural event brought together scientists from around the globe with expertise in different tumor areas such as hematological, central nervous system, and solid malignancies. Twenty-four guest speakers — including seven from CHOP — talked about their research and experience focused on genomic medicine and precision cancer care in the pediatric cancer world to a hybrid audience of more than 250 attendees.

John Maris, MD, the Giulio D'Angio chair in Neuroblastoma Research, and Marilyn Li, MD, vice chief of the Division of Genomic Diagnostics, co-chaired the successful event which had "innovation through collaboration" as its guiding principle and advancing personalized medicine in pediatric cancer care as its goal.

"It was a wonderful and refreshing conference that was highly interactive for those who attended in person and even for those attending remotely," Dr. Maris said. "I am certain that many collaborations were initiated during the summit and will grow over time. Many thanks to our team who overcame many challenges to organize and execute a superb multidisciplinary conference."

CHOP speakers included, Kathrin Bernt, MD; Sharon Diskin, PhD; Patrick Grohar, MD; Marilyn Li, MD; Adam Resnick, PhD; Lea Surrey, MD; and Sarah Tasian, MD.

Julia Parish-Morris, PhD

Using Social Cues May be Challenging for Autistic Children and Teens

Learning to adjust one's level of talkativeness is a valuable growth opportunity for verbally fluent individuals with autism, according to new findings from our Center for Autism Research (CAR). In a study published in Autism Research, CAR scientists found that compared to their neurotypical peers, children and teens with autism did not adjust their level of talkativeness to reflect quieter social partners. This nuance of communication presents a valuable target for interventions that aim to support successful social interactions.

"Adjusting how we communicate depending on the behavior of the person we are talking to is an important skill that facilitates rewarding social interactions," said Julia Parish-Morris, PhD, the study's senior author in a press release. "Conversations — by definition — go both ways. When both conversation partners adjust their behavior a little bit to improve the flow, everyone wins. Noticing differences in how talkative your partner is, and adjusting your own talkativeness accordingly, is a valuable communication skill to have in your toolbox."

Dr. Parish-Morris and her colleagues used word count as an objective measure for talkativeness. During the study, 48 participants diagnosed with autism and 50 who were neurotypical engaged in conversations with two novel social partners. One of these partners acted interested and spoke a lot, while the other acted bored and spoke less. While the neurotypical participants adjusted their talkativeness to match that of each of these partners, the autism group remained consistently talkative in both conversations.

Learn more.

Rebecca Ganetzky, MD

New Study Supports Early Diagnosis of Leigh Syndrome

Leigh Syndrome, the most common pediatric mitochondrial disorder, has been characterized by neurodevelopmental regression, where a child loses previously achieved skills as metabolic strikes occur in their deep brain regions. A new study from our Mitochondrial Medicine Center suggests that developmental delays may occur even earlier than regression and metabolic stroke — providing a potential opportunity for earlier diagnosis and therapeutic intervention. In the Molecular Genetics and Metabolism study, the researchers had examined existing data to see if primary developmental delays were more common than previously believed.

"By looking at the pre-regression history of these patients, we were hoping to see signs that would allow us to diagnose Leigh syndrome at an earlier stage prior to their acute decompensation," said Rebecca Ganetzky, MD, the study's co-senior author. "Since we found that developmental delays were the presenting symptom for many of these cases, our study demonstrates that mitochondrial energetics impact developmental trajectories prior to their first episode of neurodevelopmental regression."

The findings demonstrate that even if a child has not yet had a serious regression episode, it may be possible to diagnose Leigh syndrome disorders if they have early developmental days, according to Marni Falk, MD, executive director of the Mitochondrial Medicine Frontier Program.

"We hope our findings will lead to prospective natural history studies that examine specific neurodevelopmental outcomes to help us design future clinical trials for therapies to help these patients at as early a stage in their disease course as possible," Dr. Falk said.

Learn more.

Rachel Myers, PhD

Medical Care and Recovery Differ for Concussions Related to Assault

In a new Pediatric Emergency Care study, CHOP researchers identified key differences in the initial evaluation and outcomes for patients who experienced a concussion resulting from assault versus those who sustained a concussion during sports. Patients who had an assault-related concussion were less likely to receive concussion-specific testing upon diagnosis, had prolonged recovery trajectories, and were more than twice as likely to experience a decline in school performance, according to the Minds Matter and Center for Violence Prevention teams.

The study is unique in that it is the first to show disparities in diagnosis and outcomes between assault-related concussions and sports-related injuries. While most studies have focused on the latter type of concussions, about 30% of concussions are caused by other factors such as assaults, falls, and motor vehicle crashes. In this study, researchers conducted a chart review of 124 patients seen at CHOP between 2012 and 2014, 62 of whom had an assault-related concussion and 62 of whom had a sports-related concussion.

Daniel Corwin, MD

Fewer patients with assault-related concussions received a concussion specific visio-vestibular examination, and more than twice as many patients with assault-related concussions reported a decline in their grades compared with patients with sports-related concussions. Furthermore, patients who sustained an assault-related concussion were more likely to be Black, publicly insured, and presenting to the emergency department. The findings will prompt prospective research to establish and evaluate interventions to reduce disparities in care delivery and recovery, according to the researchers.

"Understanding the possible disparities in diagnosis, treatment, and recovery is vitally important in enhancing our efforts to support violently injured youth's physical and psychosocial recovery," said Rachel Myers, PhD, a study co-author.

Daniel J. Corwin, MD, MSCE, the study's senior author, added, "These results support the idea of creating standardized evaluation tools, including symptom assessment and visio-vestibular testing, for all patients presenting with head injuries, regardless of injury mechanism."

Learn more.

Stacey Cohen, MD

Researchers Suggest New Method for Measuring Quality of Life in Severe Epilepsies

In a group of severe epilepsies called developmental and epileptic encephalopathies (DEEs), clinicians often use seizure frequency and seizure severity as the main outcome measures for determining the severity of the disease. In a recent Developmental Medicine and Child Neurology study, however, CHOP researchers report that assessing the days children are minimally impacted by seizures could be a more appropriate method of evaluating severe childhood epilepsies than measuring seizure frequency alone when determining a patient's quality of life. This is because genetic epilepsies can result in symptoms indirectly related to seizures, and there may be factors other than seizure frequency that impact a patient's quality of life.

"In our ENGIN clinic, we see more than 1,000 new patients with known or presumed genetic epilepsies each year," said Stacey Cohen, MS, LCGC, first author of the study and a genetic counselor in ENGIN at CHOP. "Seizure frequency alone does not capture the full burden of disease that our families are experiencing, even though seizures are an important factor for quality of life. Therefore, we tried to understand how we can better measure quality of life in individuals with genetic epilepsies."

Cohen and her colleagues worked with patient advocacy groups to develop a questionnaire for primary caregivers of patients with genetic epilepsies. Through the questionnaire, they found that quality of life scores were strongly associated with the number of days minimally disrupted by seizures rather than seizure frequency alone. Furthermore, study participants had significantly lower quality of life scores than those with Rett syndrome, cerebral palsy, autism spectrum disorder, and Down syndrome, suggesting the more severe impact of genetic epilepsies on quality of life compared to other neurodevelopmental disorders.

Learn more.

ICYMI

Catch up on our headlines from our March 4 edition of In the News:

• March STAT Madness Tournament — In Search of Most Exciting Biomedical Discovery
• Study Looks at Provider Guidance of Transition to Adulthood for Autistic Adolescents
• CHOP Researchers with International Pediatric Fungal Network Assess Tests and Treatment
• Research Highlights Necessity of Allergen Label Warnings for Sesame Ingredients
• Two CHOP Docs Receive American Society of Hematology 2022 Scholar Awards

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