View's of parents of individuals with Down Syndrome: media reporting, research directions and prenatal testing
Down syndrome (DS) is caused by the inheritance of extra chromosome 21 material, and occurs in approximately 1 in 800 births. There is a body of literature describing parental dissatisfaction with the manner in which they received news of the diagnosis of DS in their child. However, there has been little exploration into the thoughts of parents of individuals with DS regarding other topics, such as media reporting on DS, progress made by basic researchers investigating DS, or changes made to prenatal testing guidelines for DS. Additionally, little research has extended the previous findings to ask parents for examples of wording that they would like used in describing DS at the time of diagnosis.
Participatory Action Research (actively designed by, and for, the group that constitutes the focus of the research, working together with researchers) has emerged in recent years as a useful tool for investigating areas of importance to different populations, but has yet to be widely exploited to gain insight into matters of importance to this particular population.
This exploratory study has been designed in collaboration with parents of individuals with DS in the Lower Mainland Down syndrome society (LMDSS). The goal of the study is to collect data on parental opinions about the following three issues: 1) content of a BBC news article (2003) regarding the potential to "cure" DS, 2) priority areas for future research into DS, 3) prenatal screening and diagnostic testing that is available for DS, as well as how parents would like to see DS explained at the time of diagnosis.
The results from this study found that 55.1% and 64.7% of Canadian parents of individuals with Down syndrome (DS) had positive views regarding the availability of prenatal screening and diagnostic testing respectively. 60.2% of parents in our study felt pregnant women, regardless of their age, should be eligible for diagnostic testing for DS (for eg. amniocentesis or chorionic villus sampling).
After asking parents to describe DS in a "balanced" way, we found that it might not be possible to compile a description of DS that would be viewed as "balanced". Rather it might be important for genetic counsellors and other health care professionals to spend time with families describing the range of what the family experience of raising a child with DS might look like and exploring with them how this may fit with their values, support networks and coping strategies.
The Rare Disease Foundation microgrant allowed us to conduct a research study that produced 2 peer reviewed journal articles, with one more on the way. One of these journal articles was selected for genetic counselors to read in order to gain continuing education units for professional recertification. The research we completed as a result of support from the microgrant also led to 4 presentations at conferences, 3 presentations for genetic counseling students and 3 presentations for groups of parents. Our research was also picked up by the media - with articles in the LA Times and New York Times.
Inglis A, Hippman C, Austin JC. Am J Med Genet A. 2012 Apr;158A(4):743-50.
Hippman C, Inglis A, Austin J. J Genet Couns. 2012 Feb;21(1):35-44.
Inglis A, Lohn Z, Austin JC, Hippman C. Clin Genet. 2014 Feb 18. doi: 10.1111/cge.12364.
1. British Columbia Clinical Genomics Network (BCCGN) Seminar Lecture Series: Study of views of parents of individuals with Down Syndrome towards treatment, research, and diagnostic testing for DS - Sep 12, 2011.
2. British Columbia Clinical Genomics Network (BCCGN) Seminar Lecture Series: Study of views of parents of individuals with Down Syndrome towards treatment, research, and diagnostic testing for DS - Sep 20, 2010.
3. Inglis A, Hippman C., Austin JC. A balanced description of Down Syndrome: Learning from parents of affected individuals. Journal of Genetic Counseling. 2010. 19(6) p688 - Poster presentation at the 2010 National Society of Genetic Counselors (NSGC) Annual Educational Conference (AEC) in Dallas.
4. Inglis A, Hippman C., Austin JC. Views and opinions of parents of individuals with Down syndrome: prenatal testing and the possibility of a 'cure'? Journal of Genetic Counseling. 2009. 18(6) p630. - Presented at the 2009 NSGC AEC in Atlanta.
5. Inglis A, Hippman C., Austin JC. Views and opinions of parents of individuals with Down syndrome: prenatal testing and the possibility of a 'cure'? Presented to the Prenatal Special Interest Group at the 2009 NSGC AEC in Atlanta.
6. British Columbia Clinical Genomics Network (BCCGN) Seminar Lecture Series: Study of views of parents of individuals with Down Syndrome towards treatment, research, and diagnostic testing for DS - Sep 21, 2009.
7. Inglis, A.J., Hippman, C., and Austin, J.C. (2009). Views and opinions of parents of individuals with Down Syndrome: Prenatal testing and the possibility of a 'cure'? Poster presented at the Child & Family Research Institute - Student Research Forum Poster Presentation. Vancouver, BC, Canada. June 18, 2009
8. Inglis, A.J., Hippman, C., and Austin, JC. (2009). Views of parents of individuals with Down syndrome: media reporting, research directions and prenatal testing. Presentation delivered to the Department of Medical Genetics, Vancouver, BC., Canada. April 9, 2009.
9. Inglis, A.J., Hippman, C., and Austin, J.C. (2008). Views of parents of individuals with Down syndrome: media reporting, research directions and prenatal testing. Poster presented at the Medical Genetics Research Day, Vancouver, BC. Canada. November 7, 2008.
Molecular Genetic Analysis of MMSD Gene in a Patient with Recurrent metabolic coma and abnormal urinary excretion of 3-hydroxyisobutyric acid
A 15 year old boy suffers from recurrent coma due to excessive production of abnormal chemical compounds in his body. One of those compounds is 3-HIBA which seems to be derived from yet unknown derangements in the metabolic breakdown of amino acids such as valine. Our findings point to a new, so far not described genetic metabolic disorder. If we can locate the defect more precisely we are confident to design a dietary treatment which will prevent further deterioration in this patient. The proposed investigation of MMSD is an important step in our endeavor.
This analysis yielded a negative result.
In vivo Phosphorus Magnetic Resonance Spectroscopy of the muscle in two siblings with unexplained muscle weakness
We follow two patients with long standing muscle weakness and fatigue, who had several investigations to find the cause of their symptoms. Muscle contractions need energy supply in the form of ATP. ATP is short lasting and creatinine kinase (CK) is able to convert this energy to be stored as phosphocreatine. CK is also able to reverse stored energy back to readily available ATP, when needed. In our patients repeated blood tests showed low levels of CK. Our patients might have a genetic defect in the function of CK. Such a defect has never been described in humans. We would like to investigate our patients' muscles while at rest and during exercise in a Magnetic Resonance Spectroscopy (MRS) scanner. This test measures CK action non-invasively in the intact muscle. If there is evidence of abnormal CK action, we will proceed with complex gene tests to identify the underlying genetic defect. We will also start treatment with creatine (given as a powder by mouth) as we expect improved muscle function in case of low CK activity, and we will monitor this treatment via repeat testing in the MRS scanner.
As a result of this microgrant, we did the first muscle MRS at the University of British Columbia and obtained a very good result; there was a clear difference seen between patients and controls. We are now sequencing the CKM gene in this family. The patients' exercise intolerance improved on creatine treatment.