For those individuals who have completed the primary enrollment there are a variety of both short-term and ongoing studies in which they can participate. Some studies are limited to a group with a particular chromosome 18 change. Others are limited by the age of the participant. This is a partial list as studies change and new ones are under development all the time.
Surveys of all participants to track developmental milestones and behavioral development conducted through the mail
- BASC-2 Structured Developmental History Booklet (BASC-2 SDH)
- Gilliam Autism Rating Scale, Second Edition (GARS-2)
- Gilliam Asperger’s Disorder Scale (GADS)
- Stress Index for Parents of Adolescents (SIPA)
- Behavior Rating Inventory of Executive Function (BRIEF-P or BRIEF-AI depending on age)
- Behavior Assessment System for Children, Second Edition (BASC-2)
- Adaptive Behavior Assessment System, Second Edition (ABAS-II)
- Vineland Adaptive Behavior Scales, Second Edition (Vineland-II)
- Social Responsiveness Scale, Second Edition (SRS-2)
- Medication record
Surveys of adult participants to track functional level and behavioral adaptation performed by mail
Video assessments of 18p- adolescents and adults
Video assessment of speech and facial movement to monitor changes in speech articulation over time and to monitor facial movement for early signs of a muscular disorder. These evaluations are conducted at the Chromosome 18 family conference and remotely by sending an iPad for capturing the data to the participating family.
Finger tap test for 18q- adolescents and adults
This evaluation is performed annually at the Chromosome 18 Registry family conference and is a measure of response time and an indirect measure of myelination.
Comprehensive clinical evaluation of people with microdeletions of chromosome 18.
- Sleep and breathing telemetry in people with 18q deletions using a wrist-worn device
- Bleeding and clotting changes in people with chromosome 18p deletions or duplications
Current Basic Research Studies
- Behavioral and hearing evaluation of the Neto1 knock-out mouse
- Identification of genes responsible for dysmyelination in 18q-
- Gene expression changes in people with chromosome 18 deletions and duplications
- In addition we have ongoing collaborations with numerous investigators at other institutions in the US and abroad
Want more information?
If you would like to learn more about participation, please contact our patient coordinator, Annice Hill.