June 26, 1998

In 1997, we published two additional articles related to cognitive skills in individuals with cystinosis. The first was a study of tactile recognition in children and adults with cystinosis. The individuals studied were asked to feel common objects with one hand or the other, and to identify the object just by feeling it, without being able to look at it. We found that the group with cystinosis had greater difficulty on this task than did non-cystinosis age-matched controls. This suggested to us that some people with cystinosis might have difficulty forming mental images, since when we feel the shape of an object, we tend to form a mental image of it in order to identify the object. The ability to form mental images helps us in many areas, including memory, abstract problem solving, and perhaps in learning some basic academic skills. We suggested, in light of this study as well as others that we have conducted, that a heavier emphasis might be placed on using verbal cues and verbal learning techniques in children and adults who demonstrate difficulty with visual memory, spatial relations, mental imagery, and/or tactile recognition.

The second study was in some ways related to the first. We examined academic achievement in children and young adults with cystinosis, testing their abilities in reading, spelling, and math. We found that, as a group, the individuals with cystinosis performed significantly more poorly than did controls on arithmetic, and slightly less well than controls in spelling, while having normal reading ability. Since both arithmetic and spelling rely to some extent on visual processing and visual-spatial integration, we believe that the reason that some of the people with cystinosis experienced lower performance in these academic areas is related to the effects of cystinosis on the part of the nervous system that controls visual processing.

I want to emphasize that in both of these studies, not all of the individuals we tested showed lower performance than their matched controls. In fact, some of the people with cystinosis did quite well on these tests. This just points out that there is a great deal of variability in the way in which cystinosis might affect the brain, and that it may not have any detectable adverse effects in some people with cystinosis.

In addition to the 2 papers published last year, we have submitted 2 addidonal papers to journals within the past 2 months. One is the result of Dr. Angela Ballantyne's thesis research, and the other is a report of findings on brain MRI scans of individuals with cystinosis. We will let you know if/when these papers are published.

Finally, to update you on our current activities: we have just identified a person to join us as a research assistant. This person, if she accepts the position, will be helping us with testing, scoring of tests, data entry, and data analysis. We hope this will speed up our ability to analyze and interpret the data we have, get results out more quickly, and keep you informed of our progress. We also recently submitted a new version of our NIH grant to the NIH for the June 1 deadline. We won't hear about funding for that for several months yet, but wish us luck!

Angela and I want to thank all of you for your continued interest in our studies, and for your financial as well as personal support. We greatly appreciate all of your interest, and your efforts on our behalf. We look forward to continuing to work with you in the future.

       - Doris A. Trauner M.D.