Rethinking cerebral arachnoid cysts through genomics
Cerebral arachnoid cysts are the most common mass-occupying brain lesion in humans. Some cause no noticeable symptoms and may just be incidental findings. Others are quite severe, causing hydrocephalus and potentially nerve damage; these clearly require surgery to drain the cyst fluid and relieve pressure on the brain. But a middle ground sits between these ... Read More
‘The teamwork is outstanding’: A look inside the Colorectal and Pelvic Malformation Center
In honor of Women’s History Month, we sat down with some of the clinicians in Boston Children’s Colorectal and Pelvic Malformation Center (CPMC), one of the only centers of its kind led and staffed primarily by women. Here’s what they had to say about their work, their patients — and their hopes for the future. ... Read More
Congenital hypothyroidism: New guidance for clinicians
Congenital hypothyroidism is usually caused by a baby being born with an absent or underactive thyroid gland. When not treated, it’s one of the most common preventable causes of intellectual disability. Although newborn screening can identify congenital hypothyroidism and lead to prompt treatment, an estimated 70 percent of newborns worldwide are born in regions that ... Read More
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
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
I-PASS this patient to you: Improved hospital ‘handoffs’ cut adverse events by almost half
About 15 years ago, Boston Children’s Hospital pediatricians Christopher Landrigan, MD, MPH, and Amy Starmer, MD, MPH, observed a weak link in hospital care. Medical residents were rigorously trained to take patient histories with standardized templates and to present cases in a structured format during daily rounds. Yet such structured communication was largely absent at ... Read More