Abstract：
:CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death. No management guidelines exist and there is a paucity of published disease-specific evidence to inform clinical practice, which currently draws upon experience from the field of childhood neurodisability. Twenty-four disease experts were surveyed on CLN2 disease management and a subset met to discuss current practice. Management goals and strategies are consistent among experts globally and are guided by the principles of pediatric palliative care. Goals and interventions evolve as the disease progresses, with a shift in focus from maintenance of function early in the disease to maintenance of quality of life. A multidisciplinary approach is critical for optimal patient care. This work represents an initial step toward the development of consensus-based management guidelines for CLN2 disease.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Williams RE,Adams HR,Blohm M,Cohen-Pfeffer JL,de Los Reyes E,Denecke J,Drago K,Fairhurst C,Frazier M,Guelbert N,Kiss S,Kofler A,Lawson JA,Lehwald L,Leung MA,Mikhaylova S,Mink JW,Nickel M,Shediac R,Sims K,Specchiodoi
10.1016/j.pediatrneurol.2017.01.034subject
Has Abstractpub_date
2017-04-01 00:00:00pages
102-112eissn
0887-8994issn
1873-5150pii
S0887-8994(16)31026-8journal_volume
69pub_type
杂志文章,评审abstract：:Four patients with the classic form and 1 patient with the connatal form of Pelizaeus-Merzbacher disease were studied with magnetic resonance imaging, electroencephalography, and multimodal evoked potentials, including brainstem auditory evoked potentials, somatosensory evoked potentials, and visual evoked potentials....
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)00124-k
更新日期：1995-01-01 00:00:00
abstract：:Neonatal lupus erythematosus, characterized mainly by congenital heart block and transient skin lesions, is usually self-limited. A patient with history of neonatal lupus erythematosus and congenital heart block developed central nervous system vasculopathy resembling moyamoya disease and hypertension at 17 years of a...
journal_title：Pediatric neurology
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doi：10.1016/s0887-8994(01)00344-7
更新日期：2002-01-01 00:00:00
abstract：BACKGROUND:Neonatal neurocritical care is a growing and rapidly evolving medical subspecialty, with increasing numbers of dedicated multidisciplinary clinical, educational, and research programs established at academic institutions. The growth of these programs has provided trainees in neurology, neonatology, and pedia...
journal_title：Pediatric neurology
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更新日期：2016-10-01 00:00:00
abstract：:Intrauterine cocaine exposure has been associated with multiple transient and permanent neurologic sequelae. Although dystonic reactions have been reported in cocaine users, infantile dystonia following intrauterine exposure has not. We describe 4 infants testing positive for cocaine metabolite at birth with subsequen...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(95)00050-p
更新日期：1995-05-01 00:00:00
abstract：BACKGROUND:Weight loss is one of the most frequent side effects of topiramate treatment. The aim of our study was to investigate the effect of topiramate on body mass index, serum glucose, insulin, cortisol, leptin, and neuropeptide-Y levels and the role of these variables on the pathogenesis of weight loss in prepuber...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.05.001
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abstract：:We aimed to define the dose of pirfenidone in children and adolescents with neurofibromatosis 1 and plexiform neurofibromas that is pharmacokinetically comparable to the active adult dose. Pirfenidone was administered orally on a continuous dosing schedule. The starting dose level was 250 mg/m2/dose. The second dose l...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2007.01.009
更新日期：2007-05-01 00:00:00
abstract：BACKGROUND:No therapies have been formally approved by the Food and Drug Administration for use in pediatric multiple sclerosis, a rare disease. OBJECTIVE:We evaluated the safety, efficacy, and pharmacokinetics of dimethyl fumarate in pediatric patients with multiple sclerosis. METHODS:FOCUS, a phase 2, multicenter s...
journal_title：Pediatric neurology
pub_type： 杂志文章,多中心研究
doi：10.1016/j.pediatrneurol.2018.03.007
更新日期：2018-06-01 00:00:00
abstract：:Rhizomelic chondrodysplasia punctata is a rare genetic disorder of peroxisomal metabolism that is characterized clinically by shortening of the proximal limbs, cataracts, a characteristic facial appearance, failure to thrive, and psychomotor retardation. This report describes a newborn with a severe phenotype whose ne...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2007.07.006
更新日期：2007-11-01 00:00:00
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journal_title：Pediatric neurology
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journal_title：Pediatric neurology
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.05.014
更新日期：2014-09-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.08.014
更新日期：2006-02-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2007.12.004
更新日期：2008-04-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.02.014
更新日期：2006-08-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(01)00238-7
更新日期：2001-04-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2015.01.016
更新日期：2015-06-01 00:00:00
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journal_title：Pediatric neurology
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doi：10.1016/S0887-8994(03)00405-3
更新日期：2004-02-01 00:00:00
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journal_title：Pediatric neurology
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journal_title：Pediatric neurology
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journal_title：Pediatric neurology
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journal_title：Pediatric neurology
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2017.07.014
更新日期：2017-12-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(96)00056-2
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abstract：:Sleep disturbances are common among children and adolescents with attention deficit hyperactivity disorder. This study sought to evaluate the effects of individualizing wear times of the methylphenidate transdermal system on sleep parameters. In this open-label, randomized trial, 26 children with attention deficit hyp...
journal_title：Pediatric neurology
pub_type： 杂志文章,随机对照试验
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journal_title：Pediatric neurology
pub_type： 杂志文章
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更新日期：1990-07-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(00)00171-5
更新日期：2000-09-01 00:00:00
abstract：:Systemic T-cell lymphoma presenting with neurologic symptoms is infrequently reported in immunocompetent children. We investigated the presenting features in all 20 immunocompetent children diagnosed with T-cell lymphoma at our institution from 1992-2004. Four children presented with neurologic features. These finding...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.05.005
更新日期：2006-11-01 00:00:00
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journal_title：Pediatric neurology
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更新日期：2014-07-01 00:00:00
