Abstract
Background and ObjectivesSeveral 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.MethodsThe 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.ResultsWe 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).ConclusionsSignificant 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.
Highlights
Prader–Willi syndrome (PWS) is a genomic imprinting disorder caused by deficiency of paternally expressed gene or genes in the chromosome 15q11-13 region [1,2,3,4]
The clinical diagnosis in all cases were confirmed by molecular genetic testing using DNA methylation analysis, fluorescence in situ hybridization (FISH), DNA microsatellite analysis or multiplex ligation-dependent probe amplification (MLPA)
Compared with two molecular groups, the PWS cases with deletion have statistically significant lower full scale IQ (FSIQ) scores than that of maternal uniparental disomy (mUPD) [mean difference (MD) =-2.69 (95% confidence interval (CI), -4.86 to -0.52; p=0.02)] and results were homogeneously distributed (p=0.57) (Figure 3)
Summary
Prader–Willi syndrome (PWS) is a genomic imprinting disorder caused by deficiency of paternally expressed gene or genes in the chromosome 15q11-13 region [1,2,3,4]. 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). Compare to the PWS cases with mUPD, PWS patients with the paternal 15q11q13 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
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