7th International Conference on CHARGE Syndrome

~ Miami Beach Florida

Families and professionals enjoyed the comfort and relaxation of the location.  The "meet and greet" sessions were the most important aspects of the conference for some families -- being able to connect with those from across the globe, many of which had been communicating on the International listserv. 

The conference program was again packed with exciting speakers.  Conny van Ravenswaaij from the Netharlands gave the keynote address updating us on the implications of the gene research.  "CHARGE Syndrome is caused by a genetic aberration in the child."  It may be a microdeletion (a tiny piece of chromosone missing) because many organ systems are affected in the child.  Dr. Ravenswaaij found the chromodoman gene CHD7 through a new labour intensive process called "array CGH".  This gene has important regulatory functions for the expression of other genes.  When retesting the original 7 cases where they couldn't find the gene, they found it in all but one of the children using this very specific technique. 

Dr. George Williams from Australia presented on the importance of understanding nueral crest cell fetal development in CHARGE syndrome. The early interuption of nueral crest development is critical to understanding the features of CHARGE.  Besides the relationship to major and minor clinical features, it could also help researchers develop a phenotype for individuals with CHARGE syndrome.

Dr. Lee Wachtel and Sung Woo Kahng asked the question about the possibility of a behaviour phenotype in CHARGE.  They compared a behavioural range of individuals with deafblindness and related research from other non-specific theories on attachment, sensory deficits, tactile deficits, and visual deficits.  Parents altered responses to the child could also factor into behaviour outcomes.  Communication competence cannot be denied as relating to behaviour outcomes.  Each system in the child needs to be analysed in order that a successful solution can be specific and tailored to the individual.

Gloyn and Lauger looked at the possible affect visual processing has upon behaviour.  They presented a case study which demonstrated that children with optic nerve coloboma can share the features of those who have cortical vision impairment.  (CVI)  With an indepth look at Dr. Christine Roman's research, they were able to demonstrate that through modification of the environment, as well as instruction being tailored for those with CVI, behaviours can be resolved.  There is a questionairre which parents can fill out, which is a reliable and valid screening tool, so that data can be collected for future research on visual processing and CHARGE.

The "ecological approach" to development was presented by Jacques Souriau from France.  He outlined how there are so many external influences on the child, which includes the attitudes of others.  During the flow of sensory exchange, it is the "things, experiences, and people" which directly affect these children.  Those with CHARGE are "actors in their own developmental adventure", and to research these children, it is impossible for the final result to look like a "perfectly organized project".  He demonstrated this point through video samples, to show how to take into account a wide variety of parameters when looking at those who have CHARGE syndrome.

Dr. Blake presented the research on "Growing up with CHARGE Syndrome".  The osteoporosis in adolecents and adults with CHARGE was confirmed in the study thus far.  Early treatment which was suggested includes RDA of Calcium; 800 IU Vitamin D; and hormone replacement therapy.  Following those who have CHARGE should be an endocrinologist who is familiar with the research in this area.

Another keynote address was given by Belinda Arnell, an adult with CHARGE.  She gave a fabulous look at her life growing up with CHARGE, and also was a member on the adult panel.  It was said to be an "inspirational moment for parents" as they looked to the young adults for hope and direction.  Here below are some of the "stars" from the Panel session:

Siblings as well as Grandparents were not left out, as workshops were tailored to those.  The "Sibshop" was presented by experts from the Tennessee School for the Deaf, and helped to outline the importance to support siblings in everyday life.  The siblings were reported to have discussed joys, concerns, learned how to handle difficult situations, and were able to meet and network with other siblings during the relaxed session which boasted some recreational activity as well!

....There will be more reports from the conference to come in our next edition of the CHARGE Syndrome Canada newsletter!

~report by ann gloyn, education specialist