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ATS Issues Updated Guidelines on Congenital Central Hypoventilation Syndrome NEW YORK -- March 12, 2010 -- The American Thoracic Society has released a new official clinical policy statement on congenital central hypoventilation syndrome (CCHS). The statement appears in the March 15, 2010 issue of the American Journal of Respiratory and Critical Care Medicine. Afflicted individuals generally require fastidious medical supervision to attain the highest quality of life. The opportunity for PHOX2B clinical testing as soon as the diagnosis of CCHS is considered has expedited aggressive intervention and management. Early identification and intervention are critical to maintain optimal oxygenation and ventilation awake and asleep in these highly vulnerable, but extraordinarily “normal” children. “When optimally managed, patients have attended college, married, and held jobs,” said Debra E. Weese-Mayer, MD, Northwestern University Feinberg School of Medicine, Chicago, Illinois, who chaired the committee that wrote the guidelines. “The aim is to identify the patients as early as possible, develop a teamwork approach to management so that family members, home nurses, paediatric pulmonologists, paediatricians, and the CCHS Centre that is treating the child all work together to maximise the quality of life and neurocognitive potential for patient -- and to minimise the risk for sudden death from respiratory insufficiency or cardiac pauses. Our aim is a lifetime of success for the individual with CCHS.” The new guidelines recommend a number of key management options for CCHS: · Biannual, then annual, comprehensive in-laboratory and in-patient evaluations that would last for several days, and which would include: o Physiological studies during wakefulness and sleep to assess ventilatory needs during different activities and sleep to ascertain safe conditions and ventilatory management recommendations; o Endogenous and exogenous gas challenges and autonomic testing to characterise the extent of compromise and to ascertain safe conditions; o 72-hour Holter monitoring of heart rhythm to identify asystoles. o Echocardiograms to screen for effects of low oxygen; and o Comprehensive neurocognitive testing to measure success of the management and offer intervention options. · Barium enema or manometry and/or full thickness rectal biopsy for patients with a history of constipation to identify Hirschsprung disease; and · Imaging for neural crest tumours in individuals at risk based on their PHOX2B mutation. Because PHOX2B exerts its influence so early in embryonic development, no gene therapy yet exists, though this will undoubtedly be a target of future investigations. Pre-implantation genetics will be another target. Prenatal testing for families with a known PHOX2B mutation is already available. “Most PHOX2B mutations arise spontaneously, as long as neither parent is affected by CCHS,” said Dr. Weese-Mayer. “However, it is also possible for children to inherit the PHOX2B mutation from an unaffected parent. An estimated 5% to 10% of parents of children with CCHS will have mosaicism for the PHOX2B mutation, meaning that they will have the same mutation as their child, but in only a subset of their cells. These parents can pass the mutation on to their offspring with up to a 50% risk of transmission in each pregnancy.” SOURCE: American Thoracic Society E-mail this page to a friend or colleague! To print, use this version