Highlights d Three groups of highly genetically-related disorders among 8 psychiatric disorders d Identified 109 pleiotropic loci affecting more than one disorder d Pleiotropic genes show heightened expression beginning in 2 nd prenatal trimester d Pleiotropic genes play prominent roles in neurodevelopmental processes Authors Cross-Disorder Group of the Psychiatric Genomics Consortium
The child neurologist has a critical role in planning and coordinating the successful transition from the pediatric to adult health care system for youth with neurologic conditions. Leadership in appropriately planning a youth's transition and in care coordination among health care, educational, vocational, and community services providers may assist in preventing gaps in care, delayed entry into the adult care system, and/or health crises for their adolescent patients. Youth whose neurologic conditions result in cognitive or physical disability and their families may need additional support during this transition, given the legal and financial considerations that may be required. Eight common principles that define the child neurologist's role in a successful transition process have been outlined by a multidisciplinary panel convened by the Child Neurology Foundation are introduced and described. The authors of this consensus statement recognize the current paucity of evidence for successful transition models and outline areas for future consideration. Neurology ® 2016;87:835-840 The child neurologist has a critical role in planning and coordinating the successful transition of youth with neurologic conditions from the pediatric to adult health care system. Appropriate leadership and planning of a youth's transition, and care coordination among health care, educational, vocational, and community services providers, may assist in preventing gaps in care, which otherwise may result in a youth running out of medication or delaying entry into the adult medical system through failure to make or keep appointments. Preventable health crises may develop, for which no clear medical specialist has been identified to provide care. Youth whose neurologic conditions result in cognitive or physical disability and their families may need additional support to address the particular legal and financial considerations of the transition they face.Barriers to successful transition have been identified 1-3 and ample evidence demonstrates that many youth, particularly those with special needs, continue to receive insufficient transition planning.4-7 Several models of transition support have been developed and are beginning to be tested, although the available evidence remains insufficient to identify the best models. 5,[8][9][10][11][12] In acknowledgment of this clinical reality, and in response to the 2011 clinical guideline of the American Academy of Pediatrics/American Academy of Family Physicians/American College of Physicians "supporting the healthcare transition from adolescence to adulthood in the medical home," in which specialty providers were called to develop a framework for their population's unique needs, 13 the Child Neurology Foundation convened a multidisciplinary panel of experts in 2014 to develop this guideline. The authors of this consensus statement recognize the current paucity of evidence for successful transition models, and so propose 8 common principles that should be incorporated in any transi...
Baylisascaris procyonis, the ascarid of raccoons, causes a characteristic, rapidly fatal eosinophilic meningoencephalitis with ocular involvement in many naturally and experimentally infected aberrant hosts, including monkeys. Warnings that humans are potentially susceptible to the devastating infection have been issued, but an instance in humans has not been recognized. This report describes a boy who died from an eosinophilic meningoencephalitis, which mimicked B. procyonis infection in monkeys. The causative agent was not identified during life. Autopsy showed a systemic larval ascarid infection with massive involvement of the brain. The size and anatomy of the larvae in histologic sections were identical to those recorded for B. procyonis. The larvae were indistinguishable from the B. procyonis larvae observed in histologic sections of experimentally infected monkeys. An indirect immunofluorescence test was positive for B. procyonis. Exposure to raccoon feces was highly likely. The evidence suggests that this is the first recognized B. procyonis infection in humans. Prudent avoidance of exposure to raccoon feces is indicated.
Ring Chromosome 20 syndrome is a rare chromosomal disorder characterized by refractory epilepsy, with seizures in wakefulness and sleep, behavioral problems and mild to severe cognitive impairment. Facial dysmorphism or other congenital malformations are rarely reported making it difficult to diagnose the syndrome based on clinical findings alone. Therefore, diagnosis requires cytogenetic testing. More than 100 cases have been published since the initial report in 1972. In some patients, the ring (20) is found in all cells analyzed and in these cases, the ring is almost always accompanied by deletions of 20pter and/or 20qter. However, in the majority of cases the ring is present in only a proportion of cells, with two normal 20's in the remaining cells (mosaicism), and in these cases, no deletions of chromosome 20 have been observed. Patients with supernumerary r(20) chromosomes have also been identified, but these individuals do not generally have seizures and are not discussed in this review. Characterization by fluorescence in situ hybridization and array-based analysis has shed insight into the molecular composition and possible mechanisms of ring formation, in both the mosaic and non-mosaic patients. The age of onset of seizures correlates with the percentage of cells with the ring in mosaic patients. While the underlying etiology of the phenotype is still not understood, evidence is accumulating which suggests the deletion of candidate genes on chromosome 20 is not responsible. Cytogenetic analysis, rather than chromosomal microarray analysis is recommended for diagnosis of this syndrome, as the mosaic cases do not have copy number alterations and are therefore not identified by array-based analysis.
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