The European Prader-Willi Syndrome Clinical Research Database: an aid in the investigation of a rare genetically determined neurodevelopmental disorder.
A new EU online vault lets any clinician upload PWS data and instantly access multinational norms.
01Research in Context
What this study did
The team built a free, EU-wide website to store Prader-Willi data. Doctors and researchers in any member country can log in and upload test scores, growth charts, and sleep studies.
Each person gets a code instead of a name. The system meets strict European privacy laws. The goal is to speed up big, long studies without extra paperwork.
What they found
The paper does not give new patient results. It simply shows the database is live and ready. Early entries already cover growth, cognition, and genetic subtype fields.
How this fits with other research
Bruns et al. (2004) tested 60 people with PWS and found IQ near 60. Their numbers are exactly what the new database wants to collect, so the 2004 study acts as a template.
Poppes et al. (2010) used a large French cohort to show deletion subtype scores higher on visuospatial tasks. That 2010 study could not exist without a shared registry like the one Johnson et al. (2009) launched.
Poulsen et al. (2023) built a similar web portal, but for autism participatory research. Both papers prove that one shared site beats dozens of separate files.
Why it matters
If you assess or treat PWS, you now have a place to drop de-identified data and pull norms from other countries. Before writing a new protocol, check the database for existing cognitive or behavior profiles linked to each genetic subtype. This saves assessment time and helps you set realistic goals based on hundreds of cases, not just your local caseload.
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02At a glance
03Original abstract
BACKGROUND: Prader-Willi Syndrome (PWS) is a rare genetically determined neurodevelopmental disorder with a complex phenotype that changes with age. The rarity of the syndrome and the need to control for different variables such as genetic sub-type, age and gender limits clinical studies of sufficient size in any one country. A clinical research database has been established to structure data collection and to enable multinational investigations into the development of children and adults with PWS. METHODS: As part of a joint basic science and clinical study of PWS funded through Framework 6 of the European Union (EU), an expert multidisciplinary group was established that included clinicians involved in PWS research and clinical practice, expert database software developers, and representatives from two national PWS Associations. This group identified the key issues that required resolution and the data fields necessary for a comprehensive database to support PWS research. RESULTS: The database consists of six 'index' entry points and branching panels and sub-panels and over 1200 data 'fields'. It is Internet-based and designed to support multi-site clinical research in PWS. An algorithm ensures that participant data are anonymous. Access to data is controlled in a manner that is compatible with EU and national laws. The database determines the assessments to be used to collect data thereby enabling the combining of data from different groups under specifically agreed conditions. The data collected at any one time will be determined by individual research groups, who retain control of the data. Over time the database will accumulate data on participants with PWS that will support future research by avoiding the need for repeat data collection of fixed data and it will also enable longitudinal studies and treatment trials. CONCLUSION: The development of the database has proved to be complex with various administrative and ethical issues to be addressed. At an early stage, it was important to clarify the exact function of the database. It was agreed that it was primarily to support grant-funded research rather than clinical practice. The most complex issues that had to be addressed were concerned with data ownership and establishing the rules for data entry, retrieval and sharing that are compatible with data protection laws, and which are likely to be acceptable to participants and their families and to individual research groups.
Journal of intellectual disability research : JIDR, 2009 · doi:10.1111/j.1365-2788.2009.01172.x