Pediatrics
Rare Diseases Report 2022
Rett syndrome: Looking to the future and the promise of gene therapy
Rett syndrome is entering an exciting stage – at which the words “treatment” and “cure” can be spoken with intent and vision, not just wide-eyed...
Rare Diseases Report 2022
Health care providers should have higher suspicion for rare diseases
Learning to recognize when a cluster of symptoms doesn’t fit a pattern is important, as patients and their providers tend to gravitate toward...
Rare Diseases Report 2022
The paradox of Pompe disease
For nearly 2 decades, patients with even the most severe genetic mutations have been surviving on therapy. But clinicians must now contend with...
Rare Diseases Report 2022
Spinal muscular atrophy: Patient care in the age of genetically targeted therapy
Newborn screening, updated treatment guidelines, and treatment algorithms have changed what can be clinically done for patients with SMA, but...
Rare Diseases Report 2022
Novel gene-based therapies for neuromuscular diseases
Novel gene-based therapies show significant potential for transforming the treatment of neuromuscular diseases.
Rare Diseases Report 2022
The urgent need to diagnose Sanfilippo syndrome at an early age
The quest for effective treatments is dependent on enrolling more children at a very young age, before loss of milestones.
Latest News
Birth weight below 25th percentile linked to child development problems
“Though it is mostly unrecognized, babies who are mild to moderately small at birth are key contributors to the burden of childhood developmental...
Latest News
Pediatricians urged to check for vision problems after concussion
Up to 40% of young patients experience symptoms such as blurred vision, light sensitivity, and double vision following a concussion.
Literature Review
High-dose folic acid during pregnancy tied to cancer risk in children
“Despite some expert guidelines recommending high-dose folic acid supplementation, there is a lack of certainty surrounding the ‘just right’ dose...
Latest News
Understanding of developmental language disorder in children
The condition is common and estimated to affect 7% of children – approximately two in every classroom – but is underrecognized.
Livin' on the MDedge
‘Dr. Caveman’ had a leg up on amputation
Plus: Walking your way to a quieter baby, lending a nose to Parkinson’s research, and identifying the office flirts.