Pediatrics
Conference Coverage
Cerebral palsy: Video clues suggest dystonia
Key movements could both aid diagnosis dystonia in patients with cerebral palsy and hint at differences in brain injury.
From the Journals
Teens with diagnosed and undiagnosed ADHD report similar quality of life
Those diagnosed with ADHD in childhood were more than twice as likely to report self-harm.
From the Journals
Dementia signs detected years before diagnosis
Findings of a new study offer hope for interventions to reduce the risk of the dementia developing.
Opinion
Tourette syndrome: Diagnosis is key for best care
Accurate diagnosis of Tourette syndrome can be used to gain access to developmental disability services if the condition has resulted in true...
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.
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
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
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.
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...