Rett Syndrome, RTT
Conditions
Brief summary
The Diagnostic Experience of Male Rett Syndrome collects information on the lived experiences of parents or caregivers to boys with Rett Syndrome. Key information examined includes the process of getting a male Rett syndrome diagnosis, your son's systems of care, and your priorities for his health needs. Enrolled participants will complete an online survey with questions about having a son with Rett Syndrome. The Diagnostic Experience of Male Rett Syndrome study is available to parents or caregivers to boys (alive or passed) with Rett Syndrome. Compensation is not provided.
Interventions
GENETICMale Rett
This study does not have an intervention. Participants of this study must be parents or caregivers to boys with Rett syndrome.
Sponsors
University of Colorado, Denver
Vanderbilt University School of Medicine
University of Alabama at Birmingham
University of Pennsylvania
International Rett Syndrome Foundation
Rocky Mountain Rett Association
Children's Hospital Colorado
Study design
Observational model
FAMILY_BASED
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
MALE
Age
0 Years to 100 Years
Inclusion criteria
* English-speaking parents (over the age of 18) of male children (all ages, alive or deceased) with confirmed genetic diagnosis of male RTT
Exclusion criteria
* parents of male MECP2 duplication syndrome
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Information regarding child's death, if applicable | retrospective from birth | Questionnaire that asks parents about the details of their child's death, if applicable |
| QI-disability | retrospective over prior month | QI-Disability is a published remote survey of symptom ratings that are combined into an aggregate score of quality of life |
| Parent priorities for care and counseling | retrospective from birth | Remote survey the asks parents to prioritize with a rating scale their priorities for patient care |
| Parenting experience | retrospective from birth | Remote survey the asks parents to rate with a rating scale their parenting experience |
| Diagnostic experiences | retrospective from birth | Qualitative interview |
| Attainment of developmental milestones and any regressions | retrospective from birth | Remote survey of developmental milestones, reported in months |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Systems of supports | retrospective, over last 12 months | Questionnaire |
| Healthcare preferences | retrospective, over last 12 months | Questionnaire |
| Family demographics | retrospective, over last 12 months | Questionnaire |
Countries
United States
Contacts
Primary ContactNatalia Klamut
Outcome results
None listed