European Child & Adolescent Psychiatry

, Volume 18, Issue 12, pp 705–715 | Cite as

Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy

  • Marie Douniol
  • Aurélia Jacquette
  • Jean-Marc Guilé
  • Marie-Laure Tanguy
  • Nathalie Angeard
  • Delphine Héron
  • Monique Plaza
  • David CohenEmail author


Myotonic dystrophy type 1 (DM1) is the most frequent inherited neuromuscular disorder. The juvenile form has been associated with cognitive and psychiatric dysfunction, but the phenotype remains unclear. We reviewed the literature to examine the psychiatric phenotype of juvenile DM1 and performed an admixture analysis of the IQ distribution of our own patients, as we hypothesised a bimodal distribution. Two-thirds of the patients had at least one DSM-IV diagnosis, mainly attention deficit/hyperactivity disorder and anxiety disorder. Two-thirds had learning disabilities comorbid with mental retardation on one hand, but also attention deficit, low cognitive speed and visual spatial impairment on the other. IQ showed a bi-modal distribution and was associated with parental transmission. The psychiatric phenotype in juvenile DM1 is complex. We distinguished two different phenotypic subtypes: one group characterised by mental retardation, severe developmental delay and maternal transmission; and another group characterised by borderline full scale IQ, subnormal development and paternal transmission.


Myotonic dystrophy type 1 Juvenile form Psychiatric phenotype Cognitive profile 



This work was supported by the Association Française contre les Myopathies (AFM no 11,839). The authors wish to thank the CARPIJ for the support they provide to research in child and adolescent psychiatry.

Conflict of interest statement

The authors have no conflicts of interest relevant to the manuscript.


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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Marie Douniol
    • 1
    • 2
  • Aurélia Jacquette
    • 3
  • Jean-Marc Guilé
    • 2
    • 4
  • Marie-Laure Tanguy
    • 5
  • Nathalie Angeard
    • 3
  • Delphine Héron
    • 3
  • Monique Plaza
    • 1
    • 2
  • David Cohen
    • 1
    • 2
    Email author
  1. 1.Département de Psychiatrie de l’Enfant et de l’AdolescentUniversité Pierre et Marie Curie, AP-HP, Hôpital Pitié-SalpêtrièreParis Cedex 13France
  2. 2.Laboratoire de Psychologie et Neurosciences Cognitives (UMR CNRS 8189), Institut de PsychologieUniversité Paris DescartesBoulogne Billancourt CedexFrance
  3. 3.Institut de Myologie et Département de GénétiqueGroupe-Hospitalier Pitié-Salpêtrière AP-HPParis Cedex 13France
  4. 4.Centre de recherche Fernand SeguinUniversité de Montréal, Hôpital Rivière-des-PrairiesMontréalCanada
  5. 5.Département de BiostatistiquesGroupe-Hospitalier Pitié-Salpêtrière AP-HPParis Cedex 13France

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