Clinical features and follow－up of 11 newborns with Prader－Willi syndrome / 中国新生儿科杂志

ABSTRACT

Objective To study the clinical features of the Prader－Willi syndrome ( PWS) in neonatal period, and to explore intervention methods to improve their intelligence development.Method From September 2012 to September 2017, clinical data of infants with PWS in our hospital were retrospectively analyzed.Methylation－specific multiplex ligation－dependent probe amplification (MS－MLPA) were used for genetic testing.The patients received rehabilitation training and drug treatment , and followed－up every 6 months after the diagnosis.Result A total of 11 infants with PWS (6/11 male) were included. 8 cases had fetal bradycardia before delivery , 11 cases had hypomyotonia, lethargy, feeding difficulty, no or weak crying and nasogastric tube feeding.Among them, 9 cases had facial anomalies , 8 cases whitish skin and 7 cases genital dysplasia.2 infants died shortly after discharge , 2 infants received no intervention , 3 infants were regularly trained in our rehabilitation division with oral treatment of docosahexaenoic acid (DHA), and 4 infants were trained at home with intermittent oral DHA treatment.Among 11 cases, 3 cases received growth hormone treatment at the age of 6 months and 1 case received at the age of 59 months.The survivors received intelligence test every 6 months using children′s mental behavior scale (0－6 years old). They had severe mental retardation with the scores between 20 and 70 points.5 cases had gene deletion of q11 related area in chromosome 15, 4 cases had gene deletion of q11－13 related area in chromosome 15. 1 case had abnormal demethylation of q 11－13 in chromosome 15, and 1 case had loss of heterozygosity with methylation abnormality in chromosome 15 q11－13 areas.Conclusion Children with PWS can exhibit certain characteristics during both fetal and neonatal periods.Deletion of related genes are more frequently seen than abnormal methylation in these patients.During infantile period with rapid development of nervous system, the growth and development of infants with PWS can not be obviously improved using conventional rehabilitation training and drug treatment.