Psychiatric illness and intellectual disability in the Prader-Willi syndrome with different molecular defects--a meta analysis

PLoS One. 2013 Aug 14;8(8):e72640. doi: 10.1371/journal.pone.0072640. eCollection 2013.

Abstract

Background and objectives: Several studies have suggested a difference in clinical features of intellectual ability and psychiatric illness in the Prader-Willi syndrome (PWS) with the 15q11-q13 paternal deletion and maternal uniparental disomy (mUPD). Our objective was to appraise evidence on this association through a meta-analysis.

Methods: The electronic records PubMed and EMBASE from 1956 to 2012 were extracted for meta-analysis. Meta-analyses were performed by using fixed effect model. Mean difference, odds ratio, and 95% confidence interval were calculated.

Results: We retrieved a total of 744 PWS cases from 13 studies. These include 423 cases with paternal 15q11-q13 deletions and 318 cases of mUPD. Compare to the PWS cases with mUPD, PWS patients with the paternal 15q11-q13 deletion associated with significantly lower full scale IQ (FSIQ) [mean difference (MD), -2.69; 95%CI, -4.86 to -0.52; p=0.02] and verbal IQ (VIQ) (MD, -7.5; 95%CI, -9.75 to -5.26; p<0.00001) but higher performance IQ (PIQ) (MD, 4.02; 95%CI, 1.13 to 6.91; p=0.006). In contrast, PWS patients with mUPD are associated with significantly higher risk of psychiatric illness [odds rate (OR), 0.14; 95%CI, 0.08 to 0.23; p<0.00001] and higher risk of bipolar disorder (OR, 0.04; 95%CI, 0.01 to 0.23; p=0.0002).

Conclusions: Significant different clinical features of cognitive development and psychiatric illness are associated with PWS with different molecular defects. These findings provide support for evidence based practice to evaluate and manage the PWS syndrome with different molecular defects.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bipolar Disorder / complications
  • Chromosome Deletion
  • Humans
  • Intellectual Disability / complications*
  • Intellectual Disability / genetics
  • Mental Disorders / complications*
  • Mental Disorders / genetics
  • Prader-Willi Syndrome / complications*
  • Prader-Willi Syndrome / genetics*
  • Uniparental Disomy

Grants and funding

Grant sponsor: The National Basic Research Program (The National 973 Project) (No. 2009CB941704). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.