Alexithymia in Noonan syndrome

Genet Couns. 2004;15(1):47-52.

Abstract

Although Noonan syndrome is quite prevalent, there is a general paucity in the description of psychological and psychiatric aspects. In the present paper a 19-year-old female patient with Noonan syndrome is described who presented with anxiety symptoms. Mutation analysis in PTPN11, the NS1 gene on chromosome 12q24, showed no abnormalities. A diagnosis of panic disorder without agoraphobia was established. Treatment with citalopram resulted in a gradual decline of anxiety symptoms. The psychological profile was characterized by a prominent alexithymia. The main conclusion is that patients with Noonan syndrome might have deficits in emotional adaptative functions. It is hypothesized that alexithymia is a key feature of the behavioural phenotype.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Adult
  • Affective Symptoms / diagnosis
  • Affective Symptoms / drug therapy
  • Affective Symptoms / etiology*
  • Agoraphobia / complications
  • Agoraphobia / diagnosis
  • Agoraphobia / drug therapy
  • Chromosomes, Human, Pair 12 / genetics
  • Citalopram / therapeutic use
  • Female
  • Humans
  • Noonan Syndrome / genetics*
  • Noonan Syndrome / psychology*
  • Panic Disorder / complications
  • Panic Disorder / diagnosis
  • Panic Disorder / drug therapy
  • Selective Serotonin Reuptake Inhibitors / therapeutic use

Substances

  • Serotonin Uptake Inhibitors
  • Citalopram