Special eye-gaze technology now being used in the Department of Neurology at The Children's Hospital at Montefiore (CHAM) is revealing the hidden, inner world of children who have Rett Syndrome, a rare and severe autism spectrum disorder that primarily affects little girls. It is a neurological disease in which mobility and autonomic functions are severely impaired, seizures and orthopedic problems are common, and the children lose functional hand use and the ability to speak.
"These girls are imprisoned in their own bodies," said Aleksandra Djukic, MD, Director of the Rett Syndrome Center at CHAM, which currently treats 120 girls and is the tri-state's only specialty center for this genetic disease. "They cannot communicate with the world in normal ways such as talking or using gestures. The eye-gaze technology is helping us to unlock the girls' minds. It brings smiles to us and to their parents, because for the first time we have proof of their mental activities. But it also imposes a huge obligation to properly advocate for these children."
One patient is Maisy, a five- year- old from Manhattan. At twenty months, she tested positive for one of many mutations in the gene MECP2 that cause Rett Syndrome. Soon after, she began to deteriorate in the classic and heart-rending Rett Syndrome pattern, with the onset of seizures and loss of hand use and speech. Her parents, both professionals---her father is a researcher and her mother an attorney--had consulted their pediatrician, researched the disease online, and trekked halfway across the country to meet with specialists, trying to find guidance about what to do.
"There was a lot of misinformation out there, and no hope. We were facing an uncertain future," said Maisy's mother, Heather. "To have a child in a wheelchair, I can do that. But to have a child who cannot communicate with me is terrifying, especially if there is something wrong and I don't know what it is. Though I felt I was communicating with her, there was no proof she understood what I was saying."
Eye Gaze Opens Up the World of Communication for Maisy
Heather got her first sign of proof when she came to Montefiore and Dr. Djukic interviewed the young patient. Part of the assessment involved the eye-gaze test. Maisy was seated before the eye-gaze monitor, which tracks eye movements using cameras and reflected infrared light. When a game appeared on the monitor, she immediately began focusing her gaze (she is incapable of pointing her hand and finger) at the game's cartoon sheep, which would jump over a fence, but only if she fixed her gaze on them. Then, when prompted, she identified animals by name and "laughed and smiled as she finally had a chance to communicate," said Heather, who had been told by Maisy's teachers that this was beyond the little girl's abilities. A more complex test came later, when Maisy was asked to identify a cartoon picture of Winnie the Pooh among 64 other cartoon characters on the eye-gaze monitor. Her gaze fixed on Winnie, to her own, and her parents' delight. To her father, Peter, it was a revealing moment of joy, showing that her inner thoughts were "not random; she understood a complex question and responded."
"The eye-gaze test shows that there is a cognitive process going on. She is able to point to something, to understand a question and to communicate," said Dr. Djukic. "You're a human being if you can communicate through language. The eye- gaze technology opens up the world of communication for these girls."
Dr. Djukic is confident that the very expensive eye-gaze system (the cost varies between $10,000 - 15,000), if made available in schools and in homes, could be programmed for practical applications - from learning lessons in the classroom to choosing between oatmeal and apple sauce at breakfast with the family, and playing games as any other child likes to do.
No Cure For Rett Syndrome -- Yet
When the gene mutations causing Rett Syndrome were identified in 1999, the discovery opened up new avenues for research. And, as a result, just two years ago the reversal of Rett Syndrome was achieved in animals.
This discovery has in turn opened up the possibility of a cure in humans, and researchers are seeking ways to correct the effects of the gene mutations that cause the disease. At present, however, treatment is limited to supportive care: physical therapy, medications for seizures, anxiety and digestive symptoms, g-tubes for those children who cannot take in enough nourishment orally, and orthopedic interventions.
A Specialty Team of 20 Physicians Treats Rett Syndrome Symptoms
Dr. Djukic is optimistic that a cure for Rett Syndrome is coming; until that day, she is devoted to keeping her patients in the best possible physical ---- and intellectual---- condition. To that end, Dr. Djukic has assembled an unparalleled team of twenty specialists at Montefiore whose goals encompass not only ensuring the health of Rett patients but improving their quality of life, including the need to communicate.
The team addresses Maisy's heart murmur, seizures, breathing and swallowing difficulties, foot problems, and dental issues. "There is a comprehensive knowledge and approach to Rett Syndrome at Montefiore which is unique,' said Heather.
Future Challenges
Heather and Peter see challenges in the future with their daughter, including the prospect of 24/7 care for years to come (most Rett patients live well into adulthood). But in addition to medical resources from the team of physicians at CHAM, they now are part of a community of Rett Syndrome families organized by the Rett Syndrome Center. The group meets several times a year to learn about advances in research, to support each other, to go on family outings (such as one to the Metropolitan Museum) and to share experiences.
Passion and Compassion of Director Drives Success
Dr. Djukic has won the gratitude and enthusiastic praise of Rett parents, who say she is the driving force behind the success of the clinic.
Stefanie, a journalist from Queens and mother of 2 ½ year old Anna, says "Sasha (Dr. Djukic) showed us that we have a daughter inside, even if Anna couldn't show us herself. She answers my calls and questions personally, and has this wonderful energy; she gives me and my daughter hugs and hope. Dr. Djukic believes in these girls like nobody else."
Heather and Peter, after searching the country for answers, found Dr. Djukic's program a "breath of fresh air!" Heather adds, "She is so positive and innovative; she got us thinking about academic goals, not just OT and PT. Maybe Maisy will not be able to walk, but now we know she can understand."
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