Seven cases of neonatal Prader-Willi syndrome and a literature review

Abstract

Objective To know more about the features of Prader-Willi syndrome(PWS) in neonates and to promote early interventions for PWS patients. Methods The clinical data from 7 PWS patients being definitely diagnosed by array comparative genomic hybridization(array-CGH)from Jan. 2007 to Dec. 2012 in Department of Neonato-logy, Guangzhou Women and Children's Medical Center were collected retrospectively. The data were analyzed with lite-rature being reviewed. Results There were 7 cases described in this study, of which 6 cases were male and 1 case was female. All patients had the features of hypotonia, poor responses, feeding difficulties, less crying or weak crying. Seven cases had 5 or more of the following distinctive facial appearances: prominent forehead, narrow face, almond eyes, small mouth, downturned mouth corners, thin upper lip, and micromandible. Six cases of male children were small scrotum, among them 3 cases were cryptorchidism. Seven cases were diagnosed as PWS by array-CGH. Seven children were fed by using gastric tube, in which 4 cases accepted swallow training after admission, and their gastric tube lasted from 8 to 20 days [(13.0±5.1) d], 3 cases did not receive continuous tube feeding but swallow training them of from 15 to 35 days [(18.0±4.3) d]. Other comprehensive therapy measures included offering the parents a detailed health education, informing and their gastric tube lasted the basic information about the disease, teaching the parents how to facilitate feeding and prevent asphyxia and other aspects of skills. This might increase the baby's passive activities and promote normal development of the baby's nutritional management measures to prevent excessive or inadequate nutritional intake. Multidisciplinary consultation was necessary including the intervention of mass language training, nutrition, neuro-logy, psychiatry, psychology and osteology. Conclusions PWS newborns have the characteristics of hypotonia, poor responses, feeding difficulties, less crying or weak crying, genital hypoplasia and typical facial features. Genetic testing should be necessary for early diagnosis, as early diagnosis is benefitial for early intervention including comprehensive treatment measures such as swallowing training, which may improve the life quality of PWS patients, and improve the prognosis, and prevent growth retardation, obesity and other problems. Key words: Prader-Willi syndrome; Intervention; Diagnosis; Infant, newborn