Researchers at Montefiore Medical Center have identified, in a pilot study published in the April edition of Pediatric Neurology, that children with Rett Syndrome, who cannot speak or use their hands to communicate and therefore were thought to be unable to understand and process information, do in fact exhibit meaningful visual search whereby they can process and prioritize information. This leads researchers to believe that conventional testing is not robust enough and underestimates the patients' cognitive abilities.
Rett Syndrome is a disorder of the nervous system, caused by mutation on the MECP2 gene located on the x chromosome, that leads to development reversals; loss in previously acquired language, hand use and in most cases, walking. The disorder, which exhibits no racial or ethnic predisposition, overwhelmingly affects young girls, who develop normally for the first year of life with initial signs of regression occurring between 6 -- 18 months. One in 10,000 females suffers from Rett Syndrome, leaving them aware and alert but often without the ability to express themselves in any way.
Without the ability to communicate through speech or hand movement, Rett Syndrome patients have not been able to demonstrate their intellectual abilities. Now, researchers at Montefiore Medical Center, led by Aleksandra Djukic, MD, PhD, Director of the Tri-State Rett Syndrome Center, have shown that standardized testing, often used to diagnose autism, underestimates Rett Syndrome girls' abilities and the results demonstrate that capabilities surpass the current understanding of the disorder.
"It has been 46 years since the first clinical description of Rett Syndrome and until now there has been little indication whether sufferers can understand and process information. The results of our study highlight that more customized testing is needed for girls with Rett Syndrome, in order to be able to more accurately assess their intellectual abilities and psychological state," said Aleksandra Djukic, Associate Professor of Clinical Neurology and Clinical Pediatrics at Montefiore Medical Center and Albert Einstein College of Medicine of Yeshiva University. "It is a medical necessity for these girls to have access to eye-gaze speech generating computers in order for them to be able to demonstrate their mental ability and to communicate with their families."
Dr. Djukic uses cutting-edge, eye-gaze technology, a monitor which tracks eye movements using cameras and reflected infrared light and allows patients to answers questions by fixing their gaze on the answer, represented by an image. For Dr. Djukic and many of her patients, the eye-gaze technology has shown that while Rett Syndrome patients cannot verbally communicate, they are able to point to something, to understand a question and to communicate through their eyes.
This study examined nonverbal cognitive abilities and visual preferences by analyzing the pattern of visual fixation, using eye-gaze technology, in 49 girls with Rett Syndrome, compared with a group of typical control subjects. The girls with Rett Syndrome exhibited a preference for socially weighted stimuli, preferring to look at a face, in particular looking longer at the eyes of a person, than objects, which offers a new insight about their neurodevelopmental profile, their preferences and ability to process and discriminate visual stimuli. The results also demonstrate a striking difference between Rett Syndrome sufferers and children with autism who avoid social and eye contact, indicating that further research is needed to better understand the "hidden" thoughts and feelings of these girls.
Rett Syndrome is often confused with autism and girls suffering from the disorder are frequently grouped in the same educational classes. This presents a problem since girls with Rett Syndrome require a different teaching method, targeted to their specific communication capabilities and needs. The key difference between children with autism and Rett Syndrome is that girls with Rett show a preference for eye contact, whereas autistic children tend to avoid eye contact. Dr. Djukic believes the results of this study highlight the need for more comprehensive investigation, including direct comparisons of visual fixation patterns between girls with Rett Syndrome and children with autism. This study, which is one in a series, should be considered in future intervention strategies so that ultimately, girls with Rett can be treated specifically to suit their disorder with the goal of enhancing their communication capabilities.
Dr. Djukic and her team of 18 physicians specializing in Rett Syndrome provide state-of-the-art services for patients through intervention, education, and research. The Rett Syndrome Center at The Children's Hospital at Montefiore opened in January 2008 and treats 250 patients from all over America and as far afield as Pakistan, Italy, Cyprus, Argentina and Venezuela. Dr. Djukic has been recognized as a leader in her field with nearly 30 years' experience, she has devoted the last several years to conducting research to find cures and treatments for Rett Syndrome.
- Aleksandra Djukic, Maria Valicenti McDermott. Social Preferences in Rett Syndrome. Pediatric Neurology, 2012; 46 (4): 240 DOI: 10.1016/j.pediatrneurol.2012.01.011
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