Congenital Anomalies Found to Be 10 Times More Frequent in Children with Neurodevelopmental Disorders

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Prevalence of kidney-related HPO terms in PhenomAD-NDD. Credit: Nature Medicine (2024). DOI: 10.1038/s41591-024-03005-7

Children with neurodevelopmental disorders report congenital abnormalities, such as defects of the heart and/or urinary tract, at least ten times more frequently compared to other children.

This is one of the findings from an analysis from Radboud university medical center of data from over 50,000 children. Thanks to this new database, it's now much clearer which health problems are associated with a particular neurodevelopmental disorder and which are not. The study has been published in Nature Medicine.

Two to three percent of the population have a neurodevelopmental disorder, such as autism or intellectual disability. These disorders often come with other health problems or are part of an underlying syndrome, requiring additional medical attention for the child. Until now, it wasn't known how often these additional health problems occurred.

"That's strange," says clinical geneticist Bert de Vries. "Because it hinders proper care for this special group of children."

A huge task

De Vries, along with colleagues, therefore collected medical data from a total of over 50,000 children with neurodevelopmental disorders. They began with data from nearly 1,500 children with neurodevelopmental disorders who visited the Clinical Genetics department of Radboud university medical center in the past ten years.

"However, that was a relatively small group of children. To say something about the entire group, you need larger numbers," De Vries explains.

So, medical researcher Lex Dingemans then searched through all medical literature on neurodevelopmental disorders. "That was a huge task, starting with the first relevant article in 1938 by Professor Penrose from London," Dingemans says.

He found over 9,000 reported studies. Ultimately, about seventy articles contained enough useful and high quality data to determine the additional health problems in children with neurodevelopmental disorders. Thus, a dataset with data from more than 51 thousand children was created.

Linking data

The analysis of this data provided new insights. First, it was found that children with neurodevelopmental disorders have at least ten times more common congenital abnormalities compared to other children in the general population, such as those affecting the heart, skull, urinary tract, or hips. Additionally, the dataset maps the medical consequences of new syndromes.

Dingemans explains, "For many syndromes that cause a neurodevelopmental disorder, the question arises as to what extent other health problems are associated. Now that the numbers of these problems are known in children with neurodevelopmental disorders, we can much better determine what is actually part of the syndrome and what is not." This offers opportunities for better guidance or even treatment of children.

Neurodevelopmental disorders are genetically determined. Currently, more than 1,800 genes are known to be the cause.

"To understand these genetic causes well, we globally use databases that combine DNA data from more than 800,000 people," says Lisenka Vissers, professor of Translational Genomics. "Our database is a complement to this. With it, researchers worldwide can link genetic knowledge to the occurrence of specific health problems in neurodevelopmental disorders."

More information: Alexander J. M. Dingemans et al, Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals, Nature Medicine (2024). DOI: 10.1038/s41591-024-03005-7

Citation: Congenital anomalies found to be ten times more frequent in children with neurodevelopmental disorders (2024, May 14) retrieved 14 May 2024 from

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