News|Articles|April 12, 2026

Weekly review: trofinetide, genomic testing, and more

Get caught up with Contemporary Pediatrics. This list helps you navigate our top stories from the week, all in one place.

Last week, Contemporary Pediatrics covered topics including trofinetide’s impact on Rett syndrome and worse educational outcomes in children with a delayed ADHD diagnosis. Take a look at some of our top stories from the past week (April 6-April 10, 2026) and click on each link to read and watch anything you may have missed.

Arthur Beisang, MD, highlights trofinetide’s impact on Rett syndrome

Rett syndrome is a severe neurodevelopmental disorder that can profoundly impact a child’s quality of life, affecting nearly every system in the body. According to Arthur Beisang, MD, complex care pediatrician at Gillette Children’s Specialty Healthcare, patients with the condition face a wide array of debilitating symptoms.

A major breakthrough in addressing these challenges has been the introduction of trofinetide (Daybue; Acadia Pharmaceuticals Inc), the first medication specifically approved for Rett syndrome. Before its availability, treatment primarily focused on symptom management and supportive care.

Clinicians and caregivers now have a targeted therapy aimed at directly improving a patient’s core functional abilities. The safety and efficacy of trofinetide were largely established by the pivotal LAVENDER study, and its clinical benefits have been continuously supported by over 2.5 years of daily, real-world use.

Katharine Callahan, MD, MSME, highlights the benefits of genomic testing

In this interview, Katharine P. Callahan, MD, MSME, attending physician at Children’s Hospital of Philadelphia discusses the perceived disconnect between the high clinical value of rapid genomic testing in neonatal intensive care and the limited evidence showing improvements in traditional outcomes such as morbidity, mortality, or length of hospital stay. Drawing on her experience as a neonatologist, researcher, and ethicist, Callahan explains that this gap stems largely from how utility has historically been defined and measured in studies of genomic sequencing.

Callahan notes that while clinicians widely recognize the benefits of genetic testing in the NICU, these benefits are often not captured by conventional metrics. Prior research, including her own systematic review, has shown that studies frequently rely on “change in management” as a primary outcome. However, she argues that this measure may not reflect the true goals of genomic testing.

Early screening may detect both early- and late-onset dyslexia

Tami Katzir, PhD, and Rotem Yinon, PhD, head and postdoctoral researcher, respectively, at the Edmond J. Safra Brain Research Center for the Study of Learning Disabilities, discuss emerging evidence that dyslexia risk can be identified far earlier—and more comprehensively—than previously understood, with important implications for pediatric practice.

A key innovation discussed is the ability of a brief kindergarten screening—lasting approximately 15 to 20 minutes—to capture risk for both early- and late-emerging dyslexia. This challenges the assumption that children who read adequately in early grades are no longer at risk. Instead, some children may initially appear to develop typically but struggle later as reading demands become more complex. Importantly, these risks are already detectable in kindergarten if developmentally sensitive tools are used.

Later ADHD diagnosis linked to worse educational outcomes

A large Finnish national register study published in JAMA Psychiatry found that later age at attention-deficit/hyperactivity disorder (ADHD) diagnosis was associated with poorer academic outcomes, including lower grade point average (GPA), reduced likelihood of completing academic upper secondary education, and greater rates of school dropout at aged 20 years.¹ The findings suggest that delays in identifying ADHD, particularly among female patients, may have measurable implications for educational trajectories even in a universal health and education system.

Researchers noted that ADHD is typically diagnosed in early childhood, but symptom recognition may be delayed until academic demands increase or behaviors become more externally apparent during adolescence. The study adds population-level evidence that timing of diagnosis not only is clinically relevant but may also be associated with downstream educational attainment.

“Receiving a diagnosis in childhood requires that symptoms, including inattention with or without hyperactive-impulsive behavior, negatively affect academic or social functioning,” wrote investigators.

Click here for the full article.

Neurodevelopmental diagnoses rebound after pandemic disruptions

A population-based cohort study in JAMA Network Open found that rates of new neurodevelopmental diagnoses among children aged 6 years or younger declined sharply at the onset of the COVID-19 pandemic, then rebounded and increased in the postpandemic period.¹ The findings suggest that early disruptions in access to care may have delayed identification, with implications for pediatric screening and referral practices.

Changes in the ways children learned and developed were reported during the COVID-19 pandemic. To assess developmental trends, investigators analyzed administrative health data from Ontario, Canada, spanning March 2015 through December 2024. Across more than 1.4 million children at risk, 291,896 received a new neurodevelopmental diagnosis during the study period. Conditions included autism spectrum disorder and developmental delays, identified using physician billing codes.

“Although prenatal exposure to SARS-CoV-2 infection has not been consistently associated with neurodevelopmental sequelae, emerging evidence suggests that such exposure, as well as pandemic-related changes to early life experiences, may be associated with neurodevelopmental delays,” wrote investigators.

Click here for the full article.