Research offers guidance on genetic testing for cerebral palsy
A recent meta-analysis confirms what a small study at Boston Children’s found last year: About 1 in 4 children with cerebral palsy (CP) who had DNA testing had genetic variants likely to have caused or contributed to their condition. With the new data, the researchers have expanded the traditional view of the condition and offer ... Read More about Research offers guidance on genetic testing for cerebral palsy
A path forward for genetic testing in unexplained epilepsy
The number of genes implicated in epilepsy has grown rapidly in the past decade. This raises questions about what tests to offer to people with unexplained epilepsy and whether those tests would yield actionable information. Now, practice guidelines developed by genetic counselors at Boston Children’s Hospital offer a way forward. In the first systematic evidence ... Read More about A path forward for genetic testing in unexplained epilepsy
Sports medicine for single-sport athletes
As youth sports have become more structured and focused on results, sports medicine specialists have seen a growing number of sports injuries in younger patients. Is early sports specialization to blame? “Specializing in a single sport is not necessarily a cause for concern,” says Andrea Stracciolini, MD, director of Medical Sports Medicine at Boston Children’s ... Read More about Sports medicine for single-sport athletes
Sonny’s story: How an online Apert syndrome community set one family on a path to Boston
Sonny Daniel has had a busy summer. Between traveling, camp, and time with family and friends, this 4-year-old has constantly been on the go — something his parents, Kellie and Josh, are incredibly grateful for. Their gratitude stems a lot from seeing how far Sonny’s come in his journey with Apert syndrome, a genetic disorder that ... Read More about Sonny’s story: How an online Apert syndrome community set one family on a path to Boston
There’s no stopping Jack: His journey with craniosynostosis
Jack is almost 2 years old and loves to swim, chase his older sister around the house, and just bring lots of laughs to everyone he meets. For such a happy kid, he’s had an uphill battle to get to this point — starting when he was born. “Something wasn’t right with the shape of ... Read More about There’s no stopping Jack: His journey with craniosynostosis
Optimizing care for bronchopulmonary dysplasia, infant by infant
Preterm newborns with bronchopulmonary dysplasia (BPD) can require ongoing mechanical ventilation to support their lungs. But babies with BPD aren’t just newborns with underdeveloped lungs. Each has a unique presentation. And every part of their care is important, with the ultimate goal of enabling them to grow, develop, and go home to their families. The ... Read More about Optimizing care for bronchopulmonary dysplasia, infant by infant