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JAMA Psychiatry Clinical Challenge
May 2018

Evaluation and Management of Self-injury in a Child With a Rare Genomic Variant

Author Affiliations
  • 1Child Study Center, Yale School of Medicine, New Haven, Connecticut
  • 2Department of Psychiatry, Columbia University, New York, New York
  • 3New York State Psychiatric Institute, New York
  • 4Center for Autism and the Developing Brain, New York–Presbyterian Hospital, White Plains
  • 5Department of Psychiatry, University of Utah, Salt Lake City
JAMA Psychiatry. 2018;75(5):524-525. doi:10.1001/jamapsychiatry.2017.4677

A 4-year-old boy was referred to the child psychiatry clinic for management of tantrums with aggression and self-injurious behavior. Tantrums were unpredictable and often resulted in severe head-butting. His parents also reported atypical social and language development, disrupted sleep, and persistent impulsivity with attempts to elope.

The patient had a complex medical history that was marked by prematurity at 32 weeks, slow postnatal growth, and severe gastroesophageal reflux. Genetic testing following an episode of hypoglycemia revealed microdeletion of the 16p11.2 region of chromosome 16. His pediatrician documented a normal neurological examination without dysmorphology or congenital anomalies.