Clinical Features Of Prader-Willi Syndrome In Infancy And Follow-up Of Early Application Of Growth Hormone

Objective: To summarize the clinical features of Prader-Willi syndrome(PWS)in infants and explore the safety and efficacy of early treatment with growth hormone.Method: To analyze the clinical characteristics of 10 children with PWS less than 2years old diagnosed by genetic testing in the Qingdao Women’s and Children’s Hospital from 2010 to 2020.Eight children were treated with recombinant human growth hormone(rh GH)after diagnosis,and the course of treatment was more than 2 years.One of them was followed up for 5 years.(1)To summarize the clinical features of infants with PWS.(2)Efficacy and safety assessment:(1)Calculate the average dose of rh GH.(2)Physical development: According to the standard method to measure height,weight,height standard deviation integral(Ht-SDS),body mass index(BMI).The changes of Ht-SDS and BMI before and after treatment were compared.(3)Metabolic and endocrine hormones: Relevant indicators are regularly checked.The changes of glucose metabolism indexes(fasting blood glucose,insulin,quantitative insulin sensitivity index),lipid metabolism indexes(cholesterol,low density lipoprotein,triglyceride)and endocrine hormones(TSH,FT4,IGF-1)before treatment,1 year and 2 years after treatment were compared.(4)Motor and nervous system development: Two groups was divided according to the age of beginning to rh GH treatment before and after 12 months.Recording the age of walking alone and the difference was compared.Record the age when you start walking alone and compare the differences.Assess the changes in motor and mental development scores during treatment.(5)Follow-up: Record other rh GH adverse effects.Ask the affected about changes in feeding.(3)Statistical methods:Quantitative data were expressed as mean±Standard.The means of the repeated measures of Ht-SDS,BMI,lipid metabolism(cholesterol,LDL,triglycerides),thyroid function(TSH,FT4)and glucose metabolism(fasting glucose,insulin,quantitative insulin sensitivity testing index)were analyzed with spss2.1,α=0.05。Time point pairwise comparisons were performed for indicators with significant statistical differences.Differences in the age at which infants started walking were assessed using the Mann Whitney U test,stratified into 2 groups according to the time when treatment was started before 12 months of age and after 12 months of age.Statistical significance was set at P < 0.05.Result:(1)Clinical characteristics: The 10 children were diagnosed at a mean age of8.3±6.93 months and were beginning to be treated at a mean age of 10.63±6.65 months.When diagnosed,there were low muscle tension,feeding difficulties,poor weight gain,special face,reduced activity and developmental retardation.Six cases had genital dysplasia,Six cases had small hands and feet,five cases had hypopigmentation of skin,four cases had abnormal eyes,four cases had sticky saliva and scab,three cases had abnormal language clarity,three cases had damaged skin behavior,two cases had narrow hands and lack of radian at the edge of palm ulnar.(2)Efficacy and safety assessment:(1)Physical development:The difference in Ht-SDS before and after treatment was statistically significant(P= 0.000)and with the prolongation of treatment time,Ht-SDS increased.The mean value of Ht-SDS in the first year of treatment increased by 0.564 SDS and in the second year of treatment increased by 0.8SDS.There was no significant difference in BMI before and after treatment(P = 0.453).(3)Motor and nervous system development: The average age of children who started rh GH therapy before 12 months was 17 ±2.35 months.The average age of independent walking after 12 months of treatment was 22.3±2.08 months.There was a significant difference between the age at which the two began to walk independently(P = 0.036).There was no significant change in neurological development score.(4)Follow-up : There was no scoliosis,severe sleep apnea syndrome,active tumor and allergy.After treatment,all children ’ s milk intake and sucking ability were improved.Conclusion: Infants with PWS are mainly characterized by low muscle tone,feeding difficulties,poor weight gain,special face,slow development and reduced activity.Early application of rh GH treatment can improve the growth rate,make the age of starting walking ahead of time,and improve the milk intake of children.Glucose,lipid,metabolism and thyroid function were not affected.Early rh GH treatment can benefit early and has high safety.