Headache is exceedingly common in pediatric practice and a significant source of parental worry (“Could it be a brain tumor?”). A detailed patient history and exam should seek to differentiate between primary and secondary headache and identify any “red flags.” Imaging is performed when there is an indication the headache could be attributed to a structural brain lesion. A diagnostic workup is not needed if the history is reassuring and the exam normal. …Read More
Genetic disorders are individually rare, but when you add them up, they’re relatively common in pediatric neurology. They can underlie epilepsy, neuromuscular disease, stroke, autism, intellectual disability, inflammatory brain disease, white matter disease and movement disorders.
A molecular diagnosis can spare children from further unnecessary diagnostic testing and allows for anticipatory guidance. Test results can help guide family planning, and may allow for preimplantation genetic diagnosis if parents are pursuing in vitro fertilization (IVF). A genetic diagnosis can also directly affect therapy, as in inborn errors of metabolism and channelopathies for which treatments are already available.
When should you consider genetic testing, and where should you start?
“Everything that shakes or faints need not be epilepsy,” the French Child Neurologist Jean Aicardi once said. Unfortunately, an incorrect diagnosis of epilepsy not only exposes a child to the side effects of antiepileptic drugs but also eliminates an opportunity to treat his or her true condition.
The problem is more common than you might think. Research from the U.K. has shown that 25 to 30 percent of children seen for epilepsy turn out not to have it. Children seen in the Boston Children’s Hospital Epilepsy Center for a “CIBAS” consultation (“could it be a seizure?”) also frequently have a different diagnosis. …Read More
A recent study by the U.S. Centers for Disease Control (CDC) found that in 2015, 75 percent of children aged two to five years with a diagnosis of Attention Deficit-Hyperactivity Disorder (ADHD) were receiving medication-based treatment, and only 50 percent received some form of behavioral therapy. This was true regardless of insurance type; that is, it was equally true for children covered by Medicaid as it was for children on private insurance.
The study raises concerns on many levels.
The data on treating older children are fairly clear regarding the benefits and risks of medication treatment for ADHD. The landmark trial showed better outcomes in those treated with medication and behavioral therapy as opposed to behavioral therapy alone, and side effects were infrequent and readily manageable or reversible. Similar high-quality, multi-center, blinded scientific studies in younger children have not been done.