# Adopting a Point-of-Care Model for Genetic Testing in Children With Developmental Delays: A Case Report

## TL;DR

A case report shows how point-of-care genetic testing can help children with developmental delays by identifying genetic mutations linked to autism and other health issues.

## Contribution

The paper advocates for a point-of-care genetic testing model to improve early detection and management of genetic disorders in children with developmental delays.

## Key findings

- Genetic testing revealed three mutations linked to ASD and epilepsy in a six-year-old patient.
- Adopting point-of-care testing can provide families with critical health insights early in the diagnostic process.
- Early genetic testing may lead to better treatment planning and understanding of a child's prognosis.

## Abstract

It is the current consensus amongst the psychiatric community that children undergoing evaluation for developmental delays and/or autism spectrum disorder (ASD) should be offered genetic testing early in the diagnostic process. Identifying genetic abnormalities can provide insight into patient prognosis and may reveal other medical complications that could arise throughout a patient’s life. Despite these recognized benefits, genetic testing is often delayed or not offered and therefore deprives families of valuable knowledge about their child’s future health outcomes. We present a case of a six-year-old patient who presented to our child and adolescent psychiatry office for behavioral concerns. She had received an ASD diagnosis years prior to presentation, but for unknown reasons, genetic testing had never been pursued. Genetic testing was obtained in our office, and the results revealed three different mutations that were linked to ASD and various other medical complications including epilepsy. With this knowledge, the patient’s family gained important insight into their child’s prognosis. This case highlights the necessity for adopting a point-of-care testing (POCT) model when evaluating children with developmental delays and/or ASD. Through this model, genetic testing would be offered to families during the initial visit for these patients. This would help streamline this process and allow for more widespread detection of genetic disorders linked to ASD and coexisting medical sequelae. Having this knowledge would empower families with a better understanding of their child’s condition and would allow families to work together with providers to determine the best possible treatment plan.