"This is a major advance in the treatment and care of a fascinating congenital condition,” said Robert Marion, MD, pediatric geneticist and director of the Williams Syndrome Center at CHAM. “The medical care of children with WS requires an understanding of the natural history of the disorder. These children then require continuing assessment and periodic review at appropriate ages.”
“Having the necessary specialists in a coordinated medical center will limit burdensome multiple visits that Williams Syndrome families typically put up with in our region,” said Gabriel Haddad, MD, chairman, Department of Pediatrics, Montefiore Medical Center. We can personalize every evaluation and during our morning clinics, patients and their families can rotate their appointments between the geneticist and counselor, cardiologist, developmental specialist and an overall case manager,” he said.
CHAM social workers provide ongoing support to patients and their families. The team also includes a clinical/school psychologist and a speech/language therapist who are available for screenings, full evaluations and consultations about academic programs and school-related issues. Other specialists in the Center include pediatric nephrologists, developmentalists, gastroenterologists, neurologists, endocrinologists and metabolic specialists.
"Every specialist offers insight into a specific aspect of Williams Syndrome, but collectively views patients in the wider, lifelong disease management context and as unique and growing individuals,” said Dr. Marion.
Diagnosis can be made as early as the newborn period or as late as adulthood. Lifetime patient management is at the core of the CHAM program. As children with Williams Syndrome develop from infancy through adulthood they typically encounter a number of issues unique to each age -- all clearly defined in the published guidelines of The American Academy of Pediatrics. Montefiore is able to address those requirements and to provide the attention of disparate pediatric specialists who are familiar with their patients’ unique physical, mental, and psychosocial needs at every age.
In spite of cognitive and physical delays, children with Williams Syndrome, which occurs in 1 in 10,000 to 20,000 children, show amazing facility with language use and develop advanced musical abilities such as the capacity to recognize, name and produce the pitch of a musical note.
"Personal social skills can be dazzling, but cognitive skills may be simultaneously weak. With the first phase of the human genome project completed, we know that 95 percent of people with Williams Syndrome are lacking a region on chromosome 7 that codes for 20 genes.” But he added, "what is unusual, almost phenomenal, about this disorder is how this missing piece of genetic material can produce the same kind of personality in all affected patients."
"Williams Syndrome has been fascinating to people for years because of its circumscribed psychological abnormality," said Dr. Marion. "This condition is central to contemporary research linking the brain, genetics, our understanding of the appreciation of music and a wide assortment of medical issues.”
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