Eighteen-year-old man with autism, obsessive compulsive disorder and a SHANK2 variant presents with severe anorexia that responds to high-dose fluoxetine. uri icon

Overview

abstract

  • The SHANK2 gene codes for a protein involved in organising the postsynaptic density and disruptions have been associated with autism spectrum disorders (ASDs). ASDs are frequently comorbid with intellectual disability and anxiety disorders and emerging evidence suggests potentially common aetiologies. Here, we report the case of an 18-year-old man with ASD who presented with severe anorexia due to fear of food contamination, food avoidance and stereotypies attributable to underlying obsessive compulsive disorder (OCD). The patient was found to be heterozygous for c.2518C>T (p.Pro840Ser), a likely damaging coding variant in the proline rich region of SHANK2 Interestingly, the patient's disordered eating behaviour began to improve only after high-dose fluoxetine was initiated to target OCD symptoms. Overall, this case highlights the utility of molecular genetic testing in clinical psychiatry and provides an example of how genetic information can inform clinicians in the treatment of complex neuropsychiatric syndromes.

publication date

  • July 9, 2018

Research

keywords

  • Anorexia
  • Autistic Disorder
  • Fluoxetine
  • Nerve Tissue Proteins
  • Obsessive-Compulsive Disorder
  • Selective Serotonin Reuptake Inhibitors

Identity

PubMed Central ID

  • PMC6040574

Scopus Document Identifier

  • 85049990142

Digital Object Identifier (DOI)

  • 10.1001/jama.295.22.2605

PubMed ID

  • 29991577

Additional Document Info

volume

  • 2018