Rett(Rett syndrome,RTT) and Phelan-McDermid(Phelan-McDermid syndrome,PMS)
Conditions
Interventions
experimental group(Rett syndrome):Recombinant human growth hormone (short-acting 0.075IU/Kg.d subcutaneous injection half an hour before bedtime or long-acting 0.1mg/Kg.w subcutaneous injection once a
control group(Rett syndrome): rehabilitation training (45 minutes/day, 5 days a week) for 12 weeks
experimental group(PMS syndrome):Recombinant human growth hormone (short-acting 0.075IU/Kg.d subcutaneous injection half an hour before bedtime or long-acting 0.1mg/Kg.w subcutaneous injection once a
control group(PMS syndrome):rehabilitation training (45 minutes/day, 5 days a week) for 12 weeks
Sponsors
The first hospital of JiLin University
Eligibility
Sex/Gender
All
Age
2 Years to 8 Years
Inclusion criteria
Inclusion criteria: (1) Rett syndrome diagnosis and MeCP2 gene mutation. Or meet the diagnosis of PMS syndrome and have SHANK3 mutation or 22q13.3 deletion. (2) Age 2-8 years old.
Exclusion criteria
Exclusion criteria: (1) Patients with closed epiphysis, definite diagnosis or suspected tumor, pituitary nuclear magnetic abnormalities, intracranial hypertension, liver insufficiency, renal insufficiency, heart hypertrophic/valvular disease, or allergy to any component of growth hormones or preparations. (2) Concurrent use of other neurodevelopmental drugs. (3) The guardian refuses to join the group.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Griffiths Developmental level Test Scale in Chinese; | — |
Secondary
| Measure | Time frame |
|---|---|
| (Aberrant Behavior Checklist, ABC);Normal development of social skills from infant to junior high school children, SM;Autism Behavior Checklist,ABC;Childhood Autism Rating Scale,CARS;Clinical Global Impression-Improvement scale, CGI-I; | — |
Countries
China
Contacts
Public ContactFeiYong Jia
The first hospital of JiLin University
Outcome results
None listed