Doctors whiff on relevant screening for disabilities of infants
Would you believe they're like baseball batters who struck out swinging?
In “Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report,” Professor Lance Rodan and colleagues (2025) recommended that medical doctors screen their pediatric patients for genetic disorders. They advocate what they call an “agnostic approach,” meaning that when observable characteristics of the young child do not indicate a specific genetic disorder, doctors should conduct assessments without hypotheses about the genetic cause of any problems.
I applaud the good doctors’ effort to promote scientifically grounded screening of pediatric patients for disabilities. They are right that finding out if something is happening early in a child’e life makes it much easier to provide beneficial therapies.
But I choke on the narrow focus on genetic issues. Of course, that’s these folks’ area of study, so they should talk about it. To be sure, if a child has a protein that metabolizes—whether because of a monogenic or a multiple-allele abnormality—it’d be great to address it. Now, I know that I’m pretty ill-informed about these matters, but I haven’t heard of many biophysical interventions that address metabolic consequences of genetic disorders. I’m willing to be enlightened, of course, so please tell me.
What does knowing the genetic cause of a disorder tell us much about what the child needs for therapy? To be sure, there are important therapies for certain genetic disorders: Kids with phenylketonuria should follow diets that limit consumption of phenylalanine. I encourage determining such needs and prescribing related therapies. But I don’t know enough—honest—about what genetics screening identities.
I do, however, know a heckuva a lot about interventions that are predicated on early indicators of problems in, say, language and behavior, and these interventions have a strong evidence base. If I was counseling pediatricians about helping patients (and their families), I’d recommend a behavioral screening. And I mean screening well beyond the common “developmental milestones.” What can this kiddo do and not do?
We have the measures. They’ve been averrable for decades. Here are a couple of examples
Early Communication Indicator (Luze et al. 2001), which is a measure of expressive communication about language development for children from birth to 3 years of age.
Rhyming, Alliteration, and Segment Blending (McConnell et al., 2002), which measures language competencies closely related to later acquisition of literacy skills.
To be sure, there are already some such screens in use. Think of vision and hearing screens with infants and toddlers. But, we could use so many more. Professor Rodan et al. were right in recommending “further evaluation by relevant subspecialists as necessary, including neurologists, developmental pediatricians, and clinical geneticists.” I recommend that they add early childhood special educators to the list of specialists.
Genetics are cool and sexy, but you know what? Behavior is what matters. I understand that these folks are promoting their discipline...I do that, too. I’d appreciate it if they’d sell their goods with at least a nod to the bigger picture.
References
Luze, G. J., Linebarger, D. L., Greenwood, C. R., Carta, J. J., & Walker, D. (2001). Toward a technology of dynamic indicators of communicative expression for infants and toddlers. School Psychology Review, 30, 383–406.
McConnell, S. R., Priest, J. S., Davis, S., & McEvoy, M. A. (2002). Best practices in measuring growth and development for preschool children. In A. Thomas & J. Grimes (Eds.), Best practices in school psychology IV (Vol. 2, 4th ed., pp. 1231–1246). National Association of School Psychologists.
Rodan, L. H., Stoler, J., Chen, E., Geleseki, & the Council on Genetics. (2025). Genetic devaluation of the child with intellectual disability or global developmental delay: Clinical report. American Academy of Pediatrics, 156(1), e303507221. https://doi.org/10.1542/peds.2025-072219