A Novel Psychiatric Phenotype of Chromosome 4q Deletion: A case report

Background: Chromosome 4q deletion is a rare genetic disorder affecting an estimated 1 out of 100,000 people, although there are relatively few reports in the literature. It is characterized by microdeletions of the long arm of chromosome 4 with variable clinical presentations including heart defects, craniofacial and skeletal abnormalities, short stature, and developmental delays. While behavioral and psychiatric symptoms have been reported in a small number of Chromosome 4q deletion patients, none of these reports have described the hyperphagia or parasomnia symptoms that are presented in the current case. Case presentation A 7-year-old male patient presented with a microdeletion of the long arm of chromosome 4 that resulted in psychiatric symptoms and neurodevelopmental delays. Notable manifestations included aggression, hyperphagia, parasomnias, functional encopresis and speech delays. At inpatient admission, a multidisciplinary approach to diagnosis and treatment was adopted, encompassing pharmacological and behavioral interventions. His initial treatment was markedly delayed due to limited genetic testing at age one, which led to a misdiagnosis of childhood aggression. This limited the care team involvement for neurologic evaluation and appropriate school interventions that would have otherwise been indicated. Conclusion: Chromosome 4q deletion -related behaviors parallel that of children with autism spectrum disorder (ASD), and treatment is primarily focused on behavioral interventions. In the current case, the patient’s attention-deficit/hyperactivity disorder (ADHD) was treated, and his individualized education plan (IEP) recommendations included a functional behavioral assessment, the Behavioral Assessment System for Children, occupational therapy services and speech and language services. Following a 4-day inpatient stay, the patient demonstrated a significant decrease in aggressive behaviors.