Pediatrics
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To assess the level of preparedness and resources needed in Minnesota for the implementation of newborn screening for critical congenital heart diseases (CCHDs). ⋯ In Minnesota, two-thirds of newborns are born in centers with resources for initial diagnosis and management of CCHD. Implementation of a pilot screening program demonstrated minimal increase in nursing workload, but identified problems with interpretation of the algorithm and data reporting. This pilot project suggests the need for simplification of the algorithm, additional training of health care providers, and development of a centralized reporting mechanism.
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Two of the most ethically complex situations in pediatrics are those involving families whose religious beliefs preclude the provision of life-sustaining treatment and those involving young adults who have reached the age of legal majority and who face decisions about life-sustaining treatment. This month's "Ethics Rounds" presents a case in which these 2 complexities overlapped. An 18-year-old Jehovah's Witness with sickle cell disease has life-threatening anemia. ⋯ Her doctors urgently recommend blood transfusions. The young woman and her family adamantly refuse. Should the doctors let her die? Is there any alternative?
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Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare and complex pediatric syndrome, essentially caused by dysfunction of 3 vital systems regulating endocrine, respiratory, and autonomic nervous system functioning. The clinical spectrum of ROHHAD is broad, but sleep/wake disorders have received relatively little attention so far, although the central hypothalamic dysfunction would make the occurrence of sleep symptoms likely. In this case report, we expand the phenotype of ROHHAD with a number of striking sleep symptoms that together can be classified as a secondary form of narcolepsy. ⋯ Nocturnal polysomnography revealed sleep fragmentation and a sleep-onset REM period characteristic for narcolepsy. The diagnosis was confirmed by showing an absence of hypocretin-1 in the cerebrospinal fluid. We discuss potential pathophysiological implications as well as symptomatic treatment options.