Fetal and neonatal features of Prader-Willi syndrome
Research type
Research Study
Full title
Overlap between the features of Prematurity and the Prader-Willi syndrome; the need for clinical awareness.
IRAS ID
188177
Contact name
Malcolm Donaldson
Contact email
Sponsor organisation
NHS Greater Glasgow and Clyde
Duration of Study in the UK
0 years, 8 months, 1 days
Research summary
The Prader-Willi syndrome (PWS) results from the loss of maternally imprinted genes from a critical area on the long arm of chromosome 15. Affected individuals show extreme floppiness (hypotonia) from foetal life onwards resulting in reduced foetal movement and poor suck usually requiring tube feeding after birth. This is followed in early childhood by the development of hyperphagia which unless managed with strict dietary control leads to serious obesity.
In 2004 the Yorkhill Research Ethics Committee approved a study to examine the foetal and neonatal features of PWS. Its aim was to establish early features of PWS, some of which overlap with prematurity, and hence to facilitate earlier diagnosis. This is important - Prader-Willi syndrome is rare, presents to the neonatal and general paediatrician, and may be misdiagnosed/diagnosed late if key features are not recognised. The project consisted of case note review plus a questionnaire for parents concerning foetal movements in their affected child and the unaffected siblings, as well as birth details: presentation, mode of delivery, need for and duration of tube feeding.
By 2010 the work was ready for publication. Of 61 eligible subjects with PWS 53 (32 male, 21 female; age 1-58 years) were recruited and birth questionnaires completed with comparative birth data collected for 77 siblings (44 male, 33 female; age 3-46 years). Many PWS subjects had been preterm/low birthweight, potentially causing diagnostic confusion, and almost all had reduced foetal movements.
Very sadly, one of the key researchers, Wendy Paterson, became ill around this time and passed away in August 2012 so that work on the paper stopped.
Currently 91 patients have attended the PWS clinic, 18 of whom had not been included in the previous questionnaire survey. The purpose of this reapplication is to obtain permission to contact these “new” families before resubmitting our work.REC name
North West - Haydock Research Ethics Committee
REC reference
15/NW/0900
Date of REC Opinion
13 Nov 2015
REC opinion
Favourable Opinion