Maple Syrup Urine Disease
Conditions
Brief summary
Maple Syrup Urine Disease (MSUD) is a disorder of protein metabolism that leads to neurological differences. It is an exciting time where people diagnosed with MSUD are living longer. The investigators want to learn about how adults with MSUD think, feel, and live. The purpose of this research study is to 1) look at thinking skills, behavior skills, life skills, and quality of life in adults with MSUD and 2) measure how medical and personal factors impact these areas. The results of the study will be used to learn how to best help adults with MSUD and how to prepare for their success. In this study, the participants will answer questions on thinking, life skills, behavior skills, and quality of life. These questions will be completed on the internet. The participants will have a formal testing of their thinking and behavior completed virtually. The participants may also have a 1-2-hour telephone conversation about their life. All tests will occur virtually at home. The investigators will send the participants a letter with the results of thinking and behavior tests.
Interventions
BEHAVIORALNeurocognitive testing
Participants will undergo a battery of neurocognitive tests that examine intellectual, executive, and adaptive function. The tests will be given remotely via internet-based surveys.
Sponsors
Children's Hospital of Philadelphia
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
21 Years to 80 Years
Healthy volunteers
Yes
Inclusion criteria
for Index Subjects: * Males or females 21 years and older * Diagnosis of MSUD * Ability to communicate verbally or using augmentative communication effectively to participate in appropriate neurocognitive testing Inclusion Criteria for Comparison Subjects: * Males or females 21 years and older * Sibling or acquaintance of index subject * Ability to communicate verbally or using augmentative communication effectively to participate in appropriate neurocognitive testing
Exclusion criteria
for all subjects: * Inability to communicate verbally or using augmentative communication effectively to participate in appropriate neurocognitive testing * Subjects or guardians or who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures. * Subjects or guardians who do not have internet access * Subjects who do not speak English as a primary language
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Neurocognitive Outcome: Executive Function | 1 year | The Behavior Rating Inventory of Executive Function for Adults will be completed, scored, and standardized to age-matched norms. |
| Neurocognitive Outcome: Adaptive function | 1 year | The Adaptive Behavior Assessment System 3 (ABAS-3) will be completed, scored, and scaled to age-matched norms. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Health-related Quality of Life | 1 year | The World Health Organization Quality of Life-BREF quality of life scale will be completed by self-report and informant repot. This report will be scored and scaled to the age-match comparison group. Scores range from 0-100 with higher scores correlating with better outcome. |
| Transition to adult-centered healthcare | 1 year | Readiness for transition to adult-centered healthcare will be assessed using the • Transition Readiness Assessment Questionnaire (TRAQ) self-report and informant report. This report will be score. |
Countries
United States
Outcome results
None listed