Clinical Characteristics Analysis Of 60 Children With Prader-Willi Syndrome

Objective:This study analyzed the clinical characteristics of 60 cases of PWS in fetus,newborn and childhood in our hospital,provided the basis for prenatal screening of PWS,and strengthened the understanding of clinicians for early identification,early diagnosis,early intervention and long-term management.Method:Retrospective analysis of the 60 cases of PWS children who were diagnosed and hospitalized in Children’s Hospital of Chongqing Medical University during the time from Mar 2013 to Dec 2018.To analyze the clinical characteristics of PWS in fetal stage,neonatal,infant,child and general clinical features(temperature instability,special face,hypogennitalism,seizures).compare its perinatal conditions and general clinical characteristics with general population.Besides the SPSS 17.0 was used for statistical analysis.Result:The proportion of PWS children delivered by cesarean section increased significantly,intrauterine distress and abnormal amniotic fluid volume during pregnancy was significantly higher than that of the general population(P < 0.05).The birth weight of PWS children of the same gestational age was significantly lower than that of the general population(P<0.05).There was no significant correlation between the incidence of infants younger than gestational age and gestational weeks(P < 0.05)The main manifestations of neonatal period were hypotonia(95.6%),poor reaction(95.6%)and feeding difficulties(91.3%).Development delay(100%),hypotonia(86.4%)and malnutrition(77.3%)in infant and younger children.The older children were retarded in intelligence development(100%),obese(100%)and short(73.3%).89% of the children can acquire the ability to walk alone before 3 years old,and all of the children can acquire the ability to walk alone before 5 years old.Children with PWS have mild to moderate mental retardation.37 cases(61.7%)had genital dysplasia,25 cases(41.7%)had special facial features,and 19 cases(31.7%)had hypopigmentation.10 cases(16.7%)had central temperature instability,the incidence of which was significantly higher than that of the general population(P<0.05),and all of them occurred at infantile stage,90% of them were under 1 year old.Five children(8.3%)had convulsions,the incidence of which was significantly higher than that of the general population(P<0.05).Conclusion: It is suggested that prenatal methylation screening for PWS if intrauterine distress,abnormal amniotic fluid volume occur during perinatal period.The clinical features of PWS showed a time-series change.Motor development delay is a common clinical feature in children with PWS,but with the increase of age,Motor development delay can be gradually improved.Eventually,the ability to walk alone in PWS children is basically unlimited,but PWS children will have different degrees of mental retardation(mild to moderate).PWS is more prone to feeding difficulties and temperature instability than normal population.Feeding difficulties mainly occur in 0-9 months old and lead to moderate and severe malnutrition.Temperature instability mainly occurs before 1 year old.The risk of obesity and type 2 diabetes mellitus increased in older PWS children.The risk of seizures in children with PWS is higher than that in the general population,and there may be Subclinical Epileptiform.No characteristic brain malformations were found on cranial MRI in PWS children.