Passionate about helping people with developmental disorders thrive | Neurodevelopmental peds @ChildrensNatl | consultant for @FloreoVR | Gamer, writer, runner
Outdated pop culture reference time! I usually go by “Dr. T” professionally, so occasionally a patient or parent refers to me as “Mr. T”. I have to smile and note that I have don't have iconic mohawk or the gold chains of that 80’s icon. One of these years at Halloween...
One of the more common co-occurring conditions in autism spectrum disorder is epilepsy, with a much higher rate than is seen in the general population. There are peaks in epilepsy diagnosis in ASD in early childhood and adolescence.
@BetsyPilon Good point - not necessarily for autism-specific support, but they would likely be found to have general developmental delays, so for their communication delay (for example), they could begin receiving developmental interventions.
What can pediatricians do to support children when they suspect autism and they are waiting for a diagnostic assessment?
Make sure they are enrolled in early intervention and refer them to speech language therapy for communication and occupational therapy for adaptive skills.
One interesting aspect of Rett syndrome is that identifying the condition as a neurogenetic disorder led to focused study on mechanisms. Ultimately this led to FDA approval of trofinetide, a medication indicated to treat Rett syndrome symptoms. #MedSocial30
Regression is a concerning feature of autism spectrum disorder, raising suspicion for an underlying medical cause.
Estimates of regression range from 15-40%, but a 2022 study found that only 4% of children had strictly defined regression.
https://t.co/BHL1pQLR3Z
#MedSocial30
The curious case of Rett syndrome…
Characterized by typical early development followed by slowing of development and distinctive behaviors, in DSM-IV it was a psychiatric diagnosis.
After it was tied to the gene MECP2, it's now a neurogenetic disorder, not listed in DSM-5.
Fragile X syndrome is related to multiple medical problems, including recurrent otitis media, strabismus, GI dysmotility, seizures, and sleep apnea, highlighting the importance of monitoring for these problems in people with FXS #MedSocial30
I’m at the Fragile X Clinical & Research Consortium meeting and it has been great working with clinicians and family advocates to improve care for those with Fragile X syndrome.
Providers should test for FXS in any child with developmental delay, ID, or ASD.
It was great seeing Bill Gaillard introduce Phil Pearl for the Hower Award on the last day of the Child Neurology Society meeting. And Dr. Pearl’s talk on the Neurology of Creativity really resonated with me. #cns2023#MedSocial30
Wonderful set of talks this morning on the year in review for child neurology, with @AndreaGropman bringing us across the finish line. Amazing work being done by passionate and talented people! #cns2023
@NathanTCohen makes a very strong case for early intervention with epilepsy surgery to minimize consequences of pharmacoresistant epilepsy. Loved the “one and done” NCAA analogy! #CNS3023#MedSocial30
Congratulations to Dr. William Gaillard on receiving the Martha Bridge Denckla award! It was so nice to see Dr. Pearl introduce him and then hear Dr. Gaillard’s fascinating talk. #cns2023#MedSocial30.
For a lot of health care providers, autism dx terms can be confusing.
DSM-IV split “pervasive developmental disorders” into autistic disorder, Asperger, Rett, childhood disintegrative disorder, PDD-NOS.
DSM-5, to paraphrase Tolkien, brought them all and under ASD bound them.