Dup7, Williams Beuren Region Duplication, Williams Beuren Syndrome, Williams Syndrome
Conditions
Keywords
williams syndrome, Dup7, svas, 7q11.23, autism
Brief summary
The goal of this observational natural history study is to better characterize development, transition to adulthood, health and behavior of individuals diagnosed with Williams syndrome (WS) or carrying other variants of 7q11.23 chromosome and to build a DNA and tissue biobank with samples donated by affected individuals. The study has multiple arms focused on different aspects of WS. Participants with genetic diagnosis of WS or other variants of 7q11.23 and their family members are eligible to participate. Study participants may participate in one or multiple arms of the study: 1. Natural History Genotype-Phenotype Study to test the hypothesis that health, behavior, and developmental variability observed in WS is determined by genetic factors and to characterize those genetic changes. Participants of all ages are eligible to participate. Either a blood or saliva sample is required for participation. 2. Biobank: the research team is building a biobank enabling the development of new laboratory tools and models to study WS and test new treatment approaches. A blood sample is required for participation. Participants of all ages are eligible to participate. 3. Development arm of the study aims to delineate the development of language, cognition, personality, literacy and mathematics skills, and adaptive behavior from very early childhood through adulthood in individuals who have WS or Dup7. The purpose of this study also includes determining the predictors of specific aspects of development (e.g., word reading ability, language ability, spatial ability) for individuals with WS or Dup7. Affected individuals of all ages are eligible to participate. 4. Transition to Adulthood study aims to understand how young adults with WS make a successful transition out of high school into adulthood and to help them in this journey by providing a comprehensive psychosocial transition coupled with a medical transition plan. Individuals ages 14-25 years old are eligible to participate. Study requires three in person visits. 5. Health Outcomes, Resilience, Independence, and Executive functioning in Neurodevelopment (HORIZON) aims to characterize physical, mental health, cognitive, social, adaptive, aging, and quality of life outcomes for adults with WS, stress and resilience for caregivers, and the interplay between caregiver stress and resilience with outcomes for adults with WS. 6. Sleep and Activity Study aims to expand knowledge on sleep difficulties experienced by individuals with WS and to better understand the connection between sleep, activity (movement through the day), prescribed medications and other traits in WS.
Interventions
None listed
Sponsors
University of Pennsylvania
Children's Hospital of Philadelphia
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
* clinical and/or molecular diagnosis of Williams syndrome (WS) * biological parents or siblings of individuals diagnosed with WS * molecular diagnosis of 7q11.23 duplication syndrome (Dup7) * molecular diagnosis of another abnormality in the 7q11.23 region
Exclusion criteria
\- No diagnosis of abnormalities in the 7q11.23 region, while not being a biological relative of affected individuals
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Assessment of medical concerns in individuals with Williams syndrome and other 7q11.23 variants through review of clinical records. | Through study completion, an average of 5 years | Collecting medical health records from individuals affected by Williams syndrome and/or other variants of the chromosome 7q11.23 to analyze potential correlation between genetic factors and the scope and severity of medical problems |
| Collection and storage of biological specimens (including saliva, blood, and residual tissues) from individuals with Williams syndrome and other 7q11.23 variants to support future translational and genomic research | Through study completion, an average of 5 years | Collecting biological specimen (saliva, blood, residual tissues) enabling future research. |
| Assessment of quality of life of adolescents and adults with WS | Through study completion, an average of 5 years | Using questionnaires and neurodevelopmental and psychiatric measures (AQ-10, CARS2, DSM-5, PHQ-9, SWAN-KY, GAD-7, WAIS-IV, ABAS-3ASQoL, PROMIS, AIR-SDS and more) to describe participant outcomes across the domains of adaptive functioning, executive functioning, self-determination, social functioning, communication skills, daily living skills, mental health (e.g., anxiety, depression, etc.), objective indicators of transition if available (Medicaid waiver status, employment status, etc.), and subjective evaluations of well-being and quality of life. |
| Characterization of behavioral concerns in individuals with Williams syndrome and other 7q11.23 variants through review of medical records. | Through study completion, an average of 5 years | Collecting behavior health records from individuals affected by Williams syndrome and/or other variants of the chromosome 7q11.23 to analyze the potential correlation between genetic factors and the scope and severity of behavior health problems. |
| Characterizing a caregiver stress for the families affected with Williams syndrome | Through study completion, an average of 5 years | Zarit Burden Interview - Screening Form: In this 4-item screening questionnaire, participants will rate their feelings when taking care of their loved ones, such as feelings of stress between providing care and meeting other responsibilities. |
Countries
United States
Contacts
CONTACTDasha Fleyshman, PhD
CONTACTArmellino Center of Excellence for Williams syndrome
PRINCIPAL_INVESTIGATORDaniel Rader, MD
University of Pennsylvania
PRINCIPAL_INVESTIGATORCarolyn Mervis, PhD
University of Pennsylvania
PRINCIPAL_INVESTIGATOREdward Brodkin, MD
University of Pennsylvania
PRINCIPAL_INVESTIGATORBenjamin Yerys, PhD
Children's Hospital of Philadelphia
Outcome results
None listed