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CHOP Researchers Discover First Therapeutic Option for Patients with Rare and Aggressive Form of Mitochondrial Disease
Variants of the FBXL4 gene cause a severe form of the disorder with many complications and no approved treatment options.
Vitamin Treatment May Alleviate Exercise Intolerance Caused by Mitochondrial Impairment
New study shows how nicotimamide riboside, part of the vitamin B3 family, could mitigate myopathy caused by a genetic variant.
Autism Screening Disparities Persisted During First Year of COVID-19 Pandemic
Despite maintaining relatively high overall screening rates, canceled well-child visits and incomplete screenings may impact early intervention.
Benefits of Exercise May Vary Greatly in Primary Mitochondrial Disease
While the benefits of exercise may outweigh the risks, genetic status should be considered when recommending it as therapy.
Children’s Hospital of Philadelphia President and CEO Releases Special Podcast Series in Recognition of Women’s History Month
Breaking Through with Madeline Bell’s “Women Leading the Way” series highlights stories about some of CHOP’s amazing women scientists, and the remarkable breakthroughs they’re making.
Using Social Cues to Adjust Conversational Behavior May Be Challenging for Autistic Children and Teens
Learning to adjust talkativeness could be an important growth opportunity for verbally fluent people with autism.
CHOP Researchers Show Early Developmental Delays Predict Poor Long-term Outcomes in Leigh Syndrome Patients
Study makes the case for Leigh syndrome to be considered a potential diagnosis for infants and children with early developmental delays.
CHOP Researchers Develop New Method for Measuring Movement Behavior in Children with Autism
Method measures motor imitation skills, which have been challenging to measure consistently and precisely.
CHOP Researchers Develop New Clinical Diagnostic Test to Identify Genetic Sources of Mitochondrial Disease
New test analyzes mitochondrial DNA to find and quantify certain variations and deletions, providing a useful diagnostic tool that helps guide treatment.
Study Finds Few Pediatric Providers Discuss Transportation With Their Autistic Patients
Only 8% feel prepared to assess autistic patients’ readiness to drive.