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Psychiatric illness and intellectual disability in the Prader-Willi syndrome with different molecular defects--a meta
Lin Yang1, Guo-dong Zhan, Jun-jie Ding
1Children's Hospital, Fudan University, Shanghai, China.
Insights
Prader-Willi syndrome (PWS) with paternal deletion shows lower IQ, while maternal uniparental disomy (mUPD) is linked to higher psychiatric risks. These findings highlight distinct clinical features based on PWS genetic causes.
Area of Science:
- Genetics
- Neuroscience
- Clinical Medicine
Background:
- Prader-Willi syndrome (PWS) is a complex genetic disorder.
- Existing research suggests varying clinical presentations based on the molecular genetic cause of PWS, specifically paternal 15q11-q13 deletion versus maternal uniparental disomy (mUPD).
Purpose of the Study:
- To conduct a meta-analysis evaluating the association between different genetic defects in PWS and clinical features.
- To compare intellectual ability and psychiatric illness profiles in PWS patients with paternal deletion versus mUPD.
Main Methods:
- Systematic literature search of PubMed and EMBASE databases (1956-2012).
- Meta-analysis using a fixed-effect model.
- Calculation of mean differences and odds ratios with 95% confidence intervals for cognitive and psychiatric outcomes.
Main Results:
- Analysis of 744 PWS cases (423 paternal deletion, 318 mUPD).
- PWS with paternal deletion showed significantly lower Full Scale IQ and Verbal IQ, but higher Performance IQ compared to mUPD.
- PWS with mUPD had a significantly higher risk of psychiatric illness, including bipolar disorder, compared to paternal deletion.
Conclusions:
- Distinct cognitive and psychiatric profiles are associated with different molecular defects in Prader-Willi syndrome.
- These findings support tailored evaluation and management strategies for PWS based on its specific genetic cause.
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.
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