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Center offers ‘one-stop’ shop resources by Cindy Abole Public Relations Lowcountry children diagnosed with Down syndrome and their families have a new resource for comprehensive care with the opening of MUSC’s Down Syndrome Center.   The center was created to improve the level of care and services for children with Down syndrome and  the chance to link them to resources that can help each child reach his or her own potential of functioning independently. The program also is an opportunity to build interdisciplinary education among practitioners in training and enhance research—elements of MUSC’s overall service mission.      The center, which opened last fall, is the first of its kind in South Carolina and offers a multidisciplinary team approach to medical care and services. It is the brainchild of Shashindhar Pai, M.D., director of MUSC Children’s Hospital’s Division of Developmental Pediatrics, in conjunction with the Down Syndrome Association of the Lowcountry (DSAL).   “We wanted to create a model of comprehensive clinical care to serve this patient population, their families and practitioners,” said Pai, a geneticist . “Our goal is to offer this specialized brand of care to all children with Down syndrome living around the Lowcountry area.”      The new Down syndrome center is open to infants and children, newborn to age 5, and operates during the second Thursday of every month. It is located in the third floor of the Division of Developmental Pediatrics’ clinic in Rutledge Tower.   Down syndrome is among the most common genetic disorders affecting newborns and is characterized by congenital malformations. It occurs due to the presence of an extra chromosome. Having seen and treated hundreds of Tri-county Down syndrome patients throughout his 30 years at MUSC, Pai was approached in 2005 by a DSAL interest group composed of parents and caregivers. An active advocacy group in the Lowcountry and throughout the state, DSAL wanted to explore options in improving medical care for children, expanding education opportunities and other interests. DSAL estimates that about 200 to 300 Lowcountry families have a child diagnosed with Down syndrome.   Working together with the clinical team, DSAL conducted a survey to assess patient/family experiences, to include initial diagnosis, follow-up education, and medical services evaluation.   “There are a lot of MUSC providers who already care for children with Down syndrome. We collaborated with those providers and parents of children with Down syndrome when developing this clinic,” said Angela LaRosa, M.D., assistant professor of pediatrics and the center’s medical director.   The center will help evaluate the medical, developmental and behavioral needs of children with Down syndrome. Research has continually supported the effectiveness of early intervention among infants and young children diagnosed with Down syndrome and their development.   “The clinic provides support for parents and optimal care for the child. It follows specific guidelines of care as developed by the Down Syndrome Medical Interest Group and the Committee on Genetics of the American Academy of Pediatrics. Every child with Down syndrome should receive appropriate care based on these guidelines. Our goals are for every child with Down syndrome to receive the best level of care in an easy one-stop-shop clinic,” said LaRosa.      LaRosa and Pai are part of a multidisciplinary team of practitioners that meets and assesses patients during the monthly clinic. The team is composed of specialists who provide services in physical therapy, occupational therapy, speech therapy, ear nose and throat, developmental pediatrics and social work. During an initial visit, team members meet with the parent to discuss any concerns regarding their child, review the child’s health history, and conduct a physical exam and needs assessment that focuses on a child’s skills/abilities relating to development. It’s at this time that parents benefit from receiving information and guidance for further testing and recommendations for physical therapy, speech therapy, and other needs. The team manages an average of five to six patients per clinic, with patient visits lasting  approximately 60 to 90 minutes.   Children diagnosed with Down syndrome may have other multi-system medical problems such as heart, gastrointestinal, visual, and hearing deficits as well as developmental delays, learning and mental disabilities. Many are serious and require immediate medical attention and intervention. The clinic provides patients with the best comprehensive medical care available as outlined by state and national guidelines. Prior to the center’s opening, parents would spend countless hours and days shuttling their child to numerous appointments, treatments and evaluations. The center provides significant value by pooling most of a patient’s medical needs and clinical resources into a time-saving comprehensive clinic.    This partnership between medical practitioners and parent-advocates provides a supportive foundation that emphasizes a commitment to continual patient care, family and patient education, and  support.   “That combination of parental involvement and advocacy for Down syndrome patients is very important. In the Lowcountry and around South Carolina there is a strong presence of parent and caregiver support for this patient group,” said LaRosa.   A lynchpin to the center’s success has been its partnership with DSAL and the community. DSAL’s involvement as a family support group, in addition to its connection with the Charleston medical community, has helped hundreds of families through the years.   “We’re blessed and thankful that we live in a loving community,” said Chad Vail, DSAL president. “We’re thankful to have these medical specialties available all around us. DSAL’s goal is to provide an equal level of care and support to everyone with Down syndrome. We want to be there for families as well as patients.”      With advances in care and improvements in prenatal diagnosis and education, children with Down syndrome are living longer lives. According to Pai, the clinic’s next phase includes expansion in  research efforts. Scientists at the Charles P. Darby Children’s Research Institute are working on basic science and behavioral research that can lead to new knowledge and techniques to improve patient care.   “These are young children who have great potential to lead extraordinary lives within our community. We want to be able to provide them with as many services as we can so they can realize their full potential,” LaRosa said. Down syndrome center offers comprehensive care approach Pattie Ritter is the mother of a Down syndrome child. Pattie’s son Will, 2, was diagnosed with the chromosomal disorder shortly after his birth at a Charleston area hospital. Eventually, he was transferred to MUSC where he was assessed and began  his cycle of comprehensive medical care.   Will Ritter “It’s nice to see specialists working together in this concept,” Pattie said. “It can be difficult to find support when there’s a shortage of trained therapists in a particular area that can provide a level of adequate, continual care.”   In December, Will was finally paired with occupational and physical therapy services to support him in his hometown of Walterboro.      Last month, Pattie brought Will to Charleston for an initial visit to MUSC’s Down Syndrome Center. Will met with Angela LaRosa, M.D., the  center’s medical director , and other specialists to discuss and evaluate Will’s physical and developmental needs.      “I can’t say enough good things about the center,” said Pattie, who does not mind driving the 45-minute commute to the clinic. “The physicians and staff are very knowledgeable about Down syndrome and staying in touch with issues. Having specialists all in one area is wonderful. Even Will’s medical records are all maintained in the center. It’s one less thing for me to organize and worry about it.”   For now, Pattie continues to manage Will’s medical needs with upcoming dental and hearing check-ups. They plan to revisit the center for another check-up this fall.    “Any parent who is faced with the challenges of a special needs child is always looking for positive opportunities,” Pattie said. “There are also days where you wonder what you will do. Eventually, things that matter usually come together. Right now, I see a lot of potential for Will through this clinic as he continues to grow and develop.” MUSC Down Syndrome Center Shashidhar Pai, M.D, senior advisor; Angela LaRosa, M.D., MSCR, medical director; Karen van Bakergem, clinic coordinator, Developmental Pediatrics; David White, MD., otolaryngology; Jennifer Pitassi, physical therapist; Diane Andrews and Tish Bell-McAfee, speech language pathologists; Courney Jarrard, occupational therapist; and Kimberly Snyder, audiologist     Friday, May 11, 2007 Catalyst Online is published weekly, updated as needed and improved from time to time by the MUSC Office of Public Relations for the faculty, employees and students of the Medical University of South Carolina. Catalyst Online editor, Kim Draughn, can be reached at 792-4107 or by email, catalyst@musc.edu. Editorial copy can be submitted to Catalyst Online and to The Catalyst in print by fax, 792-6723, or by email to catalyst@musc.edu. 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