Welcome to our latest weekly summary of research news from The Children’s Hospital of Philadelphia! This has been a full week, including multiple studies of genetic influences on weight in childhood, a useful autism research explainer, findings on long-term impacts of congenital heart disease, and a neurological phenomenon with a literary namesake.
Homing in on Predictors of Childhood Obesity
“Although investigators have found many genes associated with adult body mass index (BMI), the genetics of childhood BMI has remained largely unknown,” said Struan F.A. Grant, PhD, a genomics researcher at CHOP and associate professor at the Perelman School of Medicine at the University of Pennsylvania, who was one of three co-senior authors of the largest genetic study to date of childhood BMI.
The meta-analysis study published in Human Molecular Genetics identified 15 gene locations associated with childhood BMI, three of which were novel. A large overlap of 12 previously discovered genetic loci, all of which were shared with adults with high BMI, suggests that the genetic variants may not exert their effects only in childhood, but may have different effects at different ages.
In all, the 15 risk-susceptibility loci account for 2 percent of the variance in childhood BMI. Despite this small proportion, Dr. Grant said the findings provide crucial novel insight into the biology of obesity and provides opportunities for generalized therapeutic intervention.
“Given the fact that childhood obesity is an important concern in public health, identifying specific genetic influences could prove useful in designing future preventive interventions and treatments for children,” Dr. Grant said.
More such influences are coming to light with a large international study published this week in the Journal of the American Medical Association, which found that genes affecting a pregnant mother’s weight, blood sugar, and blood pressure also affect her newborn’s birth weight. Dr. Grant was one of three CHOP genetics researchers among the co-authors of this study, led by scientists from the Universities of Exeter and Bristol in the U.K.
“This study helps to show a cause-and-effect relationship between a mothers’ weight, glucose and blood pressure and her baby’s size,” said Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics (CAG) at CHOP and co-author of the study.
Jonathan P. Bradfield, CAG’s principal analyst on the study, was an additional co-author, along with contributing collaborators from multiple centers in 11 countries, under the Early Growth Genetics Consortium.
For more information, see the CHOP press release.
Adults Risk Psychological Trauma with Congenital Heart Disease
Adults living with congenital heart disease (CHD) may have a significantly higher risk of post-traumatic stress disorder (PTSD) than people in the general population.
"Although the life expectancy of adults living with CHD has improved, ongoing care may include multiple surgeries and procedures," said Yuli Kim, MD, a cardiologist at CHOP. "These patients remain at risk for both cardiac and non-cardiac effects of their chronic condition, and face unique life stressors that may place them at elevated risk for psychological stress." Dr. Kim is senior author of a new single-center that found that as many as one in five adult patients had PTSD symptoms, with about one in 10 patients having symptoms directly related to their heart condition. The researchers suggest that clinicians and caregivers need to be aware of possible PTSD symptoms, such as anxiety and depression, in their patients.
Down the Rabbit Hole
On the 150th anniversary of Lewis Carroll’s “Alice’s Adventures in Wonderland,” CHOP neuro-ophthalmologist Grant Liu, MD is an expert in high demand. That’s because Dr. Liu has published research about a rare condition known as “Alice in Wonderland syndrome” in which children experience shifts in perception about the size or shape of their bodies or body parts.
“I think that it's a dysfunction of what's called the parietal lobe in the brain,” Dr. Liu said in a Q&A with Philly.com. “The parietal lobe, particularly on the right side, governs individuals' perceptions of shape and size — their own, and in the world. If they have a migraine or a seizure or a viral illness, it may cause dysfunction of that area.”
Read more about this curious condition and Dr. Liu’s research on Philly.com.
Detecting Brain Rhythms in Neurological Conditions Including Autism
In recent stories in Bench to Bedside, we’ve brought you insight into unique studies being conducted at CHOP’s Center for Autism Research using magnetoencephalography (MEG) to detect brain rhythms that are characteristic of autism spectrum disorder (ASD) and other neurological differences.
This week, one of the leaders of this research, Timothy Roberts, PhD, vice chair for research in Radiology at CHOP and a professor at Penn, authored a clear and informative explainer of this research and its potential for Spectrum News, an autism-focused news site.
Dr. Roberts explains: “MEG records the tiny magnetic fields neuronal activity produces. The machine looks a little bit like a salon hair-dryer, with many hundreds of magnetic field detectors arranged within a helmet that encases the whole head. It must reside in a special room that blocks magnetic fields emanating from the surroundings.” Read more:
- Spectrum News: When tracking Brain Activity, Timing can be Key
- Bench to Bedside: New Brain Study Tailored for Nonverbal Children on the Autism Spectrum
- Bench to Bedside: Studying the Brain’s Fundamental Drum Beat to Understand Autism
In case you missed it, here on Cornerstone, we brought you these updates this week and last:
- Pennsylvania Bio Patient Impact Award Goes to Fetal Surgery Pioneer: Congratulations to N. Scott Adzick, MD, on this recognition of his impact on the life of so many of CHOP’s most fragile patients!
- CHOP’s Pediatrics Department Tops U.S. News & World Report 2017 Rankings: This marks the 13th consecutive year that our Department of Pediatrics has been ranked first or second in the nation.
- Two Success Stories in Honor of Women’s History Month: Get to know two women here at the Research Institute
- A Cancer Moonshot Q&A with Andrei Thomas-Tikhonenko: Are we finding “a” cure or “the” cure for cancer?
- In the Neighborhood: Study Shows Environmental Features Associated With Teen Homicide: The hope is that perhaps modifying neighborhood features could reduce these crimes.
Last week’s “In the News” summary covered innovation in pediatrics at the South by Southwest conference, CHOP joining a major national study of student-athlete concussions, and more.
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