Article Text

Download PDFPDF
Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: successful treatment with lithium
  1. Jos I M Egger1,2,
  2. Willem M A Verhoeven1,3,
  3. Renske Groenendijk-Reijenga4,
  4. Sarina G Kant5
  1. 1Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute of Psychiatry, Venray, Netherlands
  2. 2Donders Institute for Brain, Cognition and Behaviour, Centre for Cognition, Radboud University, Nijmegen, Netherlands
  3. 3Department of Psychiatry, Erasmus University Medical Centre, Rotterdam, Netherlands
  4. 4Centre for People with Intellectual Disabilities, Ipse de Bruggen, Zwammerdam, Netherlands
  5. 5Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands
  1. Correspondence to Professor Jos I M Egger, j.egger{at}


For 30 years, Phelan and co-workers described a syndrome characterised by neonatal hypotonia, global developmental delay, strongly impaired speech, sleep disturbances and hyperreactivity to sensory stimuli. This Phelan-McDermid syndrome (PMS), also presenting with symptoms from the autism spectrum and a higher risk of developing seizure disorders, may be caused by a deletion of chromosome 22q13 or by a mutation in the SHANK3 gene. Its core psychopathological phenotype comprises symptoms from the bipolar spectrum for which generally treatment with a mood-stabilising anticonvulsant in combination with an atypical antipsychotic seems to be most effective. In addition to two elsewhere published adolescent patients, we here describe in detail the history of an adult male patient with PMS caused by a SHANK3 mutation in whom successive treatment regimens with antipsychotics and mood-stabilising anticonvulsants were all ineffective. Ultimately, addition of lithium to existing olanzapine therapy led to enduring stabilisation of mood and behaviour.

  • genetics
  • psychiatry
View Full Text

Statistics from


  • Contributors JIME and WMAV conceptualised and designed the study and collected and reviewed the literature. JIME, WMAV and RG-R assessed the patient, acquired the data and discussed the initial findings. WMAV planned additional assessments. SGK performed and interpreted the genetic analysis. JIME and WMAV reported the case history and drafted the manuscript. RG-R and SGK commented on the literature review and critically reviewed the manuscript. All authors read and approved the final version of the manuscript.

  • Competing interests None declared.

  • Patient consent Guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.