Charting Pediatrics18 Kesä 2024

Detecting Disease Before Symptoms Start

Newborn screening has expanded dramatically over the last decade as our detection methods improved and new treatments became available for rare diseases. One of those rare diseases is adrenoleukodystrophy, otherwise known as ALD. ALD is an example of a rare disease where, thanks to expansions in newborn screenings, we are now able to make a precise genetic diagnosis very early in life and offer therapies far in advance of the onset of symptoms. Early detection and treatment of this can potentially spare a family a lifetime of devastating health impacts. In December 2013, New York became the first state to require newborn screening for ALD. Currently, 43 states and Washington, D.C. are testing babies for ALD.

To help us understand the role of newborn screening, we are joined by Kevin Ess, MD. He is the Ponzio Family Chair of pediatric neurology and is the section head of neurology at Children's Hospital Colorado. He is also a professor of pediatrics at the University of Colorado School of Medicine.

Some highlights from this episode include:  

The pathophysiology of ALD.
The clinical manifestations of ALD that make it the perfect model for newborn screening.
The specifics of diagnosing and treating ALD.
The long-term impact newborn screening can have for the lifetime of children with ALD.

For more information on Children's Colorado, visit: childrenscolorado.org.   

Tämä jakso on lisätty Podme-palveluun avoimen RSS-syötteen kautta eikä se ole Podmen omaa tuotantoa. Siksi jakso saattaa sisältää mainontaa.

Jaksot(487)

Hantavirus Beyond the Headlines

When a rare disease suddenly dominates headlines, questions spread quickly and so does anxiety. Over the past few weeks, hantavirus has re-entered the national conversation, leaving many families wond...

28 Touko 30min

The Pediatric UTI Playbook

Pediatric urinary tract infections, or UTIs, don't always follow a script. While they're one of the most common diagnoses, they're also one of the most nuanced. They can be subtle, inconsistent and ea...

26 Touko 37min

Genetic Testing in Pediatrics

Genetic testing is no longer a distant, specialized tool reserved for rare disease clinics or academic centers. It's showing up in pediatric practice. For example, pediatricians are increasingly consi...

19 Touko 33min

Conjunctivitis Confusion in Kids

It's one of the most common calls you'll get as a pediatrician, and one of the fastest infections to spread through a classroom. A pink eye shows up and suddenly the questions follow: Is it contagious...

12 Touko 26min

Picky Eating or ARFID?

"Picky eater" is one of the most common labels in pediatrics and one of the easiest to overlook. But when a child's diet is shrinking instead of expanding, when meals are a source of stress instead of...

5 Touko 32min

The Future of Food Allergy

A toddler takes their first bite of peanut butter and breaks out in hives. A parent sits across from you, equal parts frightened and overwhelmed, asking the question you hear every day, "What happens ...

28 Huhti 31min

Gut Instincts: The Pediatric Microbiome

Inside every one of us is a complex, evolving ecosystem influencing everything from immunity to inflammation to long-term health. This is known as our gut microbiome. The choices made early on, such a...

21 Huhti 33min

The Parent Behind the Patient

Every pediatric visit tells two stories. One is about the child in front of us: their growth, symptoms and milestones. The other belongs to the parent beside them, often unspoken but deeply felt. In t...

14 Huhti 36min