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Cognitive and behavioural genetics
Original research
Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants
  1. Clément Desjardins1,
  2. Frédéric Caux2,
  3. Bertrand Degos1,3,
  4. Djallel Benzohra4,
  5. Astrid De Liège1,
  6. Gérôme Bohelay2,
  7. Michel Longy5,
  8. Chloé Béreaux1,
  9. Béatrice Garcin1,6
  1. 1 Department of Neurology, AP-HP, Hôpital Avicenne, Hôpitaux Universitaires de Paris-Seine Saint Denis (HUPSSD), Bobigny, France
  2. 2 Department of Dermatology, Sorbonne Paris Nord, AP-HP, Hôpital Avicenne, Hôpitaux Universitaires de Paris-Seine Saint Denis (HUPSSD), Bobigny, France
  3. 3 Dynamics and Pathophysiology of Neuronal Networks Team, Center for Interdisciplinary Research in Biology, Collège de France, CNRS UMR7241/INSERM U1050, Université PSL, Paris, France
  4. 4 Department of Radiology, AP-HP, Hôpital Avicenne, Hôpitaux Universitaires de Paris-Seine Saint Denis (HUPSSD), Bobigny, France
  5. 5 Cancer Genetics Unit and INSERM U1218, Institut Bergonié, University of Bordeaux, Bordeaux, France
  6. 6 Institut du Cerveau et de la Moelle épinière - ICM, Inserm U1127, CNRS UMR 7225, Sorbonne Université, Paris, France
  1. Correspondence to Dr Béatrice Garcin, Department of Neurology, AP-HP, Hôpital Avicenne, Hôpitaux Universitaires de Paris-Seine Saint Denis (HUPSSD), Bobigny 93000, France; beatrice.garcin{at}aphp.fr

Abstract

Purpose Cowden syndrome (CS) is an autosomal dominant disease related to germline PTEN variants and is characterised by multiple hamartomas, increased risk of cancers and frequent brain alteration. Since the behaviour of patients with CS sometimes appears to be inappropriate, we analysed their neuropsychological functioning.

Methods This monocentric study was conducted between July 2018 and February 2020. A standardised neuropsychological assessment, including an evaluation of social cognition, executive functions, language and dexterity, as well as a cerebral MRI were systematically proposed to all patients with CS. Moreover, PTEN variants were identified.

Results Fifteen patients from 13 families were included, with six non-sense (40%), three missense (20%), five frameshift (33.3%) and one splice site (6.6%) variant types. Twelve patients (80%) had altered social cognition: 10 patients had an abnormal modified Faux-Pas score and 5 had Ekman’s facial emotions recognition impairment. Nearly all patients (93%) had impaired dexterity. Cerebral MRI showed various cerebellar anomalies in seven patients (46.7%).

Conclusion Altered social cognition and impaired fine dexterity are frequently associated with CS. Further studies are needed to confirm these results and to determine whether dexterity impairment is due to the effect of germline PTEN variants in the cerebellum.

  • genetics
  • germline mutation
  • neurology
  • genetics
  • behavioural
  • psychology
  • medical

Data availability statement

Data are available upon reasonable request. Data contain sensitive patient informations: demographic and genetic data. To obtain them, please contact the corresponding author.

https://doi.org/10.1136/jmedgenet-2021-107954

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    Data availability statement

    Data are available upon reasonable request. Data contain sensitive patient informations: demographic and genetic data. To obtain them, please contact the corresponding author.

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    Footnotes

    • Contributors Conception and design of the work: CD, BG, FC and CB. Data collection: CD, CB, BG and ADL. Data analysis and interpretation: CD, CB and BG. Drafting the article: CD. Critical revision of the article: BG, FC, BD, DB, GB, ML and ADL. Final approval of the version to be published: CD and BG. Guarantor responsable of the overall content: BG.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

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

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.