Research Opportunity: The Perspective and Experiences of Families Raising a Child with a Genetic Condition
Down Syndrome Australia Quarterly Newsletter, June 2017
While there is research documenting the challenges of raising a child with a genetic condition, there is very little investigating the positive aspects.
This study by researchers at the Australian Catholic University aims to explore what opportunities and rewards are experienced by having a family member with Down syndrome and what impact having a family member with Down syndrome had on the lives of family members.
Importantly, the study hopes to capture the perspective of parents, grandparents and siblings of an individual with Down syndrome. Family members are encouraged to share stories, anecdotes and perspectives via an online questionnaire.
It is anticipated responding to the questions will require about 30 minutes. These surveys are anonymous, and participants aged 12-18 will be assisted to provide parental consent.
Family members who are interested in participating can email Rebecca Bobin at firstname.lastname@example.org for more information or click on the link to obtain a participant information statement.
- Please follow this link to the survey.
Science News Online, 1 June 2017
A phase 2 clinical trial in young adults with Down syndrome of a drug being investigated for the treatment of Alzheimer's disease supports further investigation of its potential. Results of the four-week trial of scyllo-inositol, also known as ELND005, have been published in the Journal of Alzheimer's Disease.
"Through this study, members of the Down syndrome community have demonstrated loudly and clearly that they are eager to participate in clinical trials, particularly studies that provide promise for the treatment of Alzheimer's disease," says Brian Skotko, MD, MPP, co-director of the Massachusetts General Hospital (MGH) Down Syndrome Program, and a site principal investigator for the trial. "This first, industry-sponsored phase 2 trial in the Down syndrome community showed that people with Down syndrome were able to follow the study protocol and that the drug was safe and tolerable" ...
- The abstract is available free online. Access to the full text of the research report requires purchase:
Michael Rafii et al, A Randomized Double-Blind, Placebo-Controlled, Phase II Study of Oral ELND005 (scyllo-Inositol) in Young Adults with Down Syndrome without Dementia, Journal of Alzheimer's Disease, vol. 58, no. 2, pp. 401-411, 2017