Challenging Case: 2 Year Old With "Autistic Behaviors".

Abstract

Case: "George" is a 2-year, 9-month-old boy who presented for Developmental Behavioral Pediatric evaluation with the concern of global developmental delay and autistic behaviors. He had been receiving early intervention support since he turned 2 years, receiving a parent coaching model with a developmental specialist.During the clinical interview, parents endorsed limited expressive language skills and felt that his receptive language outpaced his expressive language skills. They reported consistent response to name when called and integration of eye contact and other nonverbal gestures (e.g., point, smile, and nod). Regarding social interaction skills, parents reported that when around other children, he tends to copy the play of the other child or engage in parallel play. George frequently shares items of interest with his caregivers and attempts to initiate play with his younger sibling. Parents state that he always carries around an item such as a cable wire and repetitively twirls it.Owing to lack of other "B" criteria symptoms outside of the perseverative interest in cable wires, a diagnosis of global developmental delay was established, and he did not meet criteria for a diagnosis of autism spectrum disorder. Speech and language, occupational, and physical therapy were recommended as well as guidance on how to initiate special education services with the local school district when he turned 3 years old. Genetic testing was offered-Fragile X analysis returned negative and chromosomal microarray revealed a variant of unknown significance in an autosomal recessive gene, which was noncontributory to explain his developmental delays.Over time, George continued to present with slow, yet steady progress in all areas of his development as he transitioned to receiving special education services through an individualized education plan and continued to receive intensive outpatient therapy. Parents continued to contend with multiple providers and teachers raising concerns about autism and recommending applied behavioral analysis therapy.Almost 3 years later, the family re-connected with Genetics to pursue interval testing as technology has improved. Whole-exome sequencing (WES) was able to confirm a rare, autosomal dominant mutation that presents as a multisystem disorder characterized by significant neurodevelopmental compromise with limited to absent speech, behavioral issues, and craniofacial anomalies. Behavioral issues may include autistic features, hyperactivity, and aggressiveness. What supports will help the family move on in this next phase of his care?