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Prader-Willi syndrome in Taiwan.
Hsiang-Yu Lin1, Shuan-Pei Lin, Jui-Lung Yen
1Department of Pediatrics, Mackay Memorial Hospital, and Mackay Medicine, Nursing and Management College, Taipei, Taiwan.
Summary
Prader-Willi syndrome (PWS) genetic testing in Taiwan revealed deletions as the most common cause, unlike other regions. A new screening protocol significantly improved early PWS diagnosis rates.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Prader-Willi syndrome (PWS) is a complex genetic disorder resulting from the absence of paternal gene expression in the 15q11-13 region.
- Clinical data on PWS in Taiwan were previously limited, necessitating further investigation into its genetic and clinical characteristics within the Taiwanese population.
Purpose of the Study:
- To analyze the molecular characteristics and clinical features of Prader-Willi syndrome in Taiwan.
- To evaluate the impact of a national screening protocol on the early diagnosis of PWS.
Main Methods:
- Retrospective analysis of 70 Prader-Willi syndrome patients diagnosed between 1980 and 2005.
- Methylation-specific polymerase chain reaction (PCR) for genetic confirmation.
- Review of molecular characteristics, birth data, clinical presentation, and laboratory findings.
Main Results:
- Deletions in the 15q11-13 region were the predominant genetic cause (87%) in Taiwanese PWS patients, contrasting with higher reported rates of maternal uniparental disomy (UPD) elsewhere.
- Average birth weight was 2588g; significant incidences of bone age delay (28%) and growth hormone (GH) deficiency (60%) were observed.
- The implementation of a three-phase screening protocol in 2000 dramatically improved early diagnosis, with post-2000 diagnoses occurring before 3 months of age in 52% of cases, compared to 10% before 2000 (P < 0.001).
Conclusions:
- The genetic etiology of PWS in Taiwan appears to differ from other populations, with a lower incidence of UPD, warranting further research into potential ethnic or diagnostic factors.
- The national screening protocol has proven highly effective in enhancing the timely diagnosis of Prader-Willi syndrome in Taiwan.
- Early diagnosis is crucial for managing PWS and improving patient outcomes, highlighting the success of the implemented screening measures.
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