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European Journal of Pediatrics

, Volume 175, Issue 1, pp 9–18 | Cite as

Psychotropic treatments in Prader-Willi syndrome: a critical review of published literature

  • O. BonnotEmail author
  • D. Cohen
  • D. Thuilleaux
  • A. Consoli
  • S. Cabal
  • M. Tauber
Review

Abstract

Prader-Willi syndrome (PWS) is a rare genetic syndrome. The phenotype includes moderate to intellectual disability, dysmorphia, obesity, and behavioral disturbances (e.g., hetero and self-injurious behaviors, hyperphagia, psychosis). Psychotropic medications are widely prescribed in PWS for symptomatic control. We conducted a systematic review of published literature to examine psychotropic medications used in PWS. MEDLINE was searched to identify articles published between January 1967 and December 2014 using key words related to pharmacological treatments and PWS. Articles with original data were included based on a standardized four-step selection process. The identification of studies led to 241 records. All selected articles were evaluated for case descriptions (PWS and behavioral signs) and treatment (type, titration, efficiency, and side effects). Overall, 102 patients were included in these studies. Treatment involved risperidone (three reports, n = 11 patients), fluoxetine (five/n = 6), naltrexone (two/n = 2), topiramate (two/n = 16), fluvoxamine (one/n = 1), mazindol (one/n = 2), N-acetyl cysteine (one/n = 35), rimonabant (one/n = 15), and fenfluramine (one/n = 15).

Conclusion: We identified promising treatment effects with topiramate for self-injury and impulsive/aggressive behaviors, risperidone for psychotic symptoms associated with uniparental disomy (UPD), and N-acetyl cysteine for skin picking. The pharmacological approach of behavioral impairment in PWS has been poorly investigated to date. Further randomized controlled studies are warranted.

What is Known:

Behavioral disturbances in Prader-Willi syndrome including aggressive reactions, skin picking, and hyperphagia might be very difficult to manage.

Antipsychotic drugs are widely prescribed, but weight gain and increased appetite are their major side effects.

What is New:

Topiramate might be efficient for self-injury and impulsive/aggressive behaviors, N-acetyl cysteine is apromising treatment for skin picking and Antidepressants are indicated for OCD symptoms.

Risperidone is indicated in case of psychotic symptoms mainly associated with uniparental disomy.

Keywords

Prader-Willi syndrome Antipsychotic Topiramate Risperidone Methylphenidate Antidepressor 

Abbreviations

ABC

Aberrant behavior checklist

CBT

Cognitive behavioral therapy

CGI

Clinical global impression

DEL

Deletion

OCD

Obsessive compulsive behavior

ROAS

Retrospective overt aggressive score

SIRCL

Self-injury restraint checklist

UPD

Uniparental disomy

YBC-OC

Yale Brown obsessive compulsive subscale

Notes

Authors’ contribution

OB, DC, and MT conceived of the study and participated in its design and coordination and helped to draft the manuscript. DC made the most important contribution to this second part. All authors (OB, DC, AC, SC, DT, and MT) did participate in the meetings regarding the bibliography search, the reading of the selected articles, and the related discussions. OB, DC, DT, and MT participated in the design of the study. All authors read and approved the final manuscript.

Compliance with ethical standards

Research is not involving human participant.

This article does not contain any studies with human participant performed by any of the authors. There is no human or animal material use in this study and no personal data of any kind. Our work is entirely based on literature search.

Informed consent

Informed consent was not relevant. No informed consent.

Conflict of interest

The authors declare that they have no competing interests.

Funding

This study was funded by a Grant of French Ministry of Health (PHRC 2010-AOM1008).

Information’s regarding authors

We are a group of psychiatrists and pediatrician implicated in rare disease with psychiatric symptoms, including PWS. We are working in a national reference network in this field funded by the French government and European Union. MT, DT, and SC are working in the National Reference Center for PWS, and OB, DC, and AC are working in the National Reference Center for Psychiatric Symptoms of Rare Disease.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • O. Bonnot
    • 1
    Email author
  • D. Cohen
    • 2
  • D. Thuilleaux
    • 3
  • A. Consoli
    • 2
  • S. Cabal
    • 5
  • M. Tauber
    • 4
  1. 1.Child and Adolescent Psychiatry DepartmentLPL-University Hospital Nantes and GDR 3557, Psychiatric InstituteNantesFrance
  2. 2.Child and Adolescent Psychiatry Department, Groupe Hospitalier Pitie Salpetriere, APHPParis & Centre for Rare Diseases with Psychiatric Symptoms, APHPParisFrance
  3. 3.Rare Disease with Psychiatric Symptoms DepartmentHôpital Mari, APHPHendayeFrance
  4. 4.Pediatric DepartmentUniversity Hospital Toulouse & Rare Disease Center for Prader Willi Syndrome, CHU de ToulouseToulouseFrance
  5. 5.Child and Adolescent Psychiatry DepartmentCHU de ToulouseToulouseFrance

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