Prader Willi syndrome
Conditions
Interventions
Infantile group:age
Preschool group :age
School age group:age
Teenagers:age
Sponsors
Children's Hospital of Zhejiang University School of Medicine
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1) From July 2018 to July 2020, patients who met the diagnostic criteria for Prader Willi syndrome were treated according to the revised criteria proposed by Holm in 1993 and Cassidy in 2012, including 6 main criteria, 11 secondary criteria and 8 supporting evidence. The total score of age < 3 years old is more than 5 points, the main diagnostic criteria can be diagnosed as 4 points; the total score of age = 3 years old is more than 8 points, and the main diagnostic criteria can be diagnosed as 5 points; (2) PWS was suspected clinically, but the clinical score did not meet the diagnostic criteria; (3) Unknown causes of central dystonia and feeding difficulties in infants and young children.
Exclusion criteria
Exclusion criteria: Patients suspected of PWS but whose clinical scores did not meet the diagnostic criteria and those with unexplained central dystonia and feeding difficulties in infancy had negative genetic diagnosis finally.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| height;weight;clinical manifestation;hepatic and renal function;IGF-1; | — |
Countries
China
Contacts
Public ContactZOU Chao-Chun
Children's Hospital of Zhejiang University School of Medicine
Outcome results
None listed