Abstract:
:The relationships between the Expanded Hammersmith Functional Motor Scale (HFMSE) and genotype and motor and respiratory outcomes were examined in patients with spinal muscular atrophy types II and III (n = 70). The correlation between the HFMSE and Gross Motor Function Measure was r = 0.98. Correlations between HFMSE and forced vital capacity (percentage of predicted normal) (n = 56) and a functional rating (n = 57) were r = 0.87 and r = 0.92, respectively. Correlations with strength were as follows: knee extension, r = 0.74 (n = 60); elbow flexion, r = 0.77 (n = 61); and knee flexion, r = 0.74 (n = 58). The HFMSE differentiated patients by SMN2 copy number (P = .0007); bi-level positive airway pressure use, <8 versus ≥8 hours/day (P < .0001); ambulatory status (P < .0001); and spinal muscular atrophy type (P < .0001). The HFMSE demonstrates significant associations with established measures of function, strength, and genotype, and discriminates patients based on function, diagnostic category, and bi-level positive airway pressure need. Time of administration averaged 12 minutes. The HFMSE is a valid, time-efficient outcome measure for clinical trials in spinal muscular atrophy types II and III.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Glanzman AM,O'Hagen JM,McDermott MP,Martens WB,Flickinger J,Riley S,Quigley J,Montes J,Dunaway S,Deng L,Chung WK,Tawil R,Darras BT,De Vivo DC,Kaufmann P,Finkel RS,Pediatric Neuromuscular Clinical Research Network for Spindoi
10.1177/0883073811420294subject
Has Abstractpub_date
2011-12-01 00:00:00pages
1499-507issue
12eissn
0883-0738issn
1708-8283pii
0883073811420294journal_volume
26pub_type
杂志文章abstract::Klonopin (clonazepam; Genentech Inc, South San Francisco, California) oral wafers are benzodiazepines with anticonvulsive and anxiolytic properties. Our institution has been prescribing clonazepam wafers for acute treatment of prolonged seizures for years. Patients' size determined dosing at 0.25, 0.5, 1, or 2 mg wafe...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810368312
更新日期:2010-12-01 00:00:00
abstract::This study examines trends in corticosteroid use for males with Duchenne muscular dystrophy by birth year, race/ethnicity, and knowledge of Duchenne muscular dystrophy family history. Firstborn males (n = 521) selected from a population-based surveillance system of Duchenne muscular dystrophy were analyzed using Kapla...
journal_title:Journal of child neurology
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doi:10.1177/0883073813517263
更新日期:2015-01-01 00:00:00
abstract::Autism is etiologically heterogeneous; medical conditions are implicated in only a minority of cases, whereas metabolic disorders are even less common. Recently, there have been articles describing the association of autism with mitochondrial abnormalities. We critically review the current literature and conclude that...
journal_title:Journal of child neurology
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abstract::Past, present, and future research activities in Rett syndrome are described. Studies to this point have failed to define a biologic or chemical marker. It is hoped that heightened activity in this unique syndrome will provide guidance for the diagnosis of this disorder, and with it, better understanding. ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073888003001s14
更新日期:1988-01-01 00:00:00
abstract::The potential benefits of functional magnetic resonance imaging (MRI) for the investigation of normal development have been limited by difficulties in its use with children. We describe the practical aspects, including failure rates, involved in conducting large-scale functional MRI studies with normal children. Two h...
journal_title:Journal of child neurology
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doi:10.1177/08830738020170122201
更新日期:2002-12-01 00:00:00
abstract::Diagnostic ultrasound has been extensively used for neurologic evaluation of cranial, vascular and spinal diseases. This study presents the techniques, methodology, and procedures for a new diagnostic application of ultrasound for evaluation of the neuromuscular system. In order to determine the optimum sonographic ch...
journal_title:Journal of child neurology
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doi:10.1177/088307388800300115
更新日期:1988-01-01 00:00:00
abstract::Opsoclonus-myoclonus syndrome is characterized by abnormal lymphocyte trafficking into brain. The authors hypothesized that mycophenolate mofetil, a lymphocyte proliferation inhibitor, might be therapeutic. The cerebrospinal fluid and blood immunophenotypes of 15 children with predominantly chronic-relapsing opsoclonu...
journal_title:Journal of child neurology
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doi:10.1177/0883073808324217
更新日期:2009-03-01 00:00:00
abstract::Twelve living patients (aged 19 months to 32 years) with aspartylglucosaminuria were examined by magnetic resonance imaging (MRI), and the magnetic resonance (MR) images of 16 health volunteers (aged 4 to 32 years) were used as controls. One patient was examined twice. Postmortem MRI and histopathologic analysis were ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389701200606
更新日期:1997-09-01 00:00:00
abstract:AIM:To investigate the impact of concussion on pupillary function in children by examining pupillometric parameters and assessing for differences in children reporting photosensitivity. METHODS:Retrospective chart review was performed of pediatric patients referred for visual symptoms after concussion from 2017 to 201...
journal_title:Journal of child neurology
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doi:10.1177/0883073820964040
更新日期:2021-03-01 00:00:00
abstract::To document the impact of Tourette syndrome on the health care needs of children and access to health care among youth with Tourette syndrome, parent-reported data from the 2007-2008 National Survey of Children's Health were analyzed. Children with Tourette syndrome had more co-occurring mental disorders than children...
journal_title:Journal of child neurology
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abstract::At present, both migraine and tension-type headaches in children are believed to be chronic primary headaches. Meningeal signs in both cases are ignored or not examined, and the neurologic status is considered normal. This is the first study that focuses on meningeal signs in children with chronic headaches. The study...
journal_title:Journal of child neurology
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doi:10.1177/08830738060210050601
更新日期:2006-05-01 00:00:00
abstract::The purpose of this study was to assess sleep, daytime sleepiness, and behavior problems in children suffering from headaches and in controls, with a special focus on the role of gender. A clinical group of 28 children with persistent headache complaints and a control group of 108 healthy children were included. Sleep...
journal_title:Journal of child neurology
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doi:10.1177/7010.2006.00239
更新日期:2006-12-01 00:00:00
abstract::Outcome measures should include the patient's values and preferences (from the patient's perspective) in addition to performance ratings and physiologic states. Outcome measures can assess relationships between services and interventions and their end results, can clarify which therapies are worth providing and which ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001501201
更新日期:2000-12-01 00:00:00
abstract::Patients with refractory seizures, including those with Sturge-Weber syndrome, undergo functional studies in preparation for surgery. Perfusion studies in Sturge-Weber syndrome by single photon emission computed tomography and positron emission tomography generally demonstrate hypoperfusion in the diseased tissue. We ...
journal_title:Journal of child neurology
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doi:10.1177/0883073807302597
更新日期:2007-05-01 00:00:00
abstract::This report describes the brain autopsy of a boy who at age 4(1/2) years experienced an episode of fulminant Haemophilus influenzae type b bacterial meningitis, resulting in massive brain destruction and the clinical signs of brain death. However, medical intervention maintained him for an additional two decades. Subs...
journal_title:Journal of child neurology
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doi:10.1177/08830738060210070401
更新日期:2006-07-01 00:00:00
abstract::In the literature, several malformations of cortical development have been described as additional lesions in tuberous sclerosis complex. Among these lesions, a very large focal cortical dysplasia has peculiar magnetic resonance imaging features: a signal abnormality that extends radially inward toward the lateral ven...
journal_title:Journal of child neurology
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doi:10.1177/08830738020170101601
更新日期:2002-10-01 00:00:00
abstract::Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interestin...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738040190010710
更新日期:2004-01-01 00:00:00
abstract::Postictal psychoses are brief psychotic episodes that usually occur after poorly controlled partial complex seizure clusters. The psychosis commonly appears following a lucid interval, ranging from a few hours to days after seizure termination. An underlying structural brain abnormality is common and usually involves ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389901401209
更新日期:1999-12-01 00:00:00
abstract::This study was conducted to determine the occurrence, severity, and risk factors of gingival enlargement in children treated with valproate and other nonvalproate antiepileptic drugs. A cross-sectional study was carried out in which data obtained from 68 epileptic children under treatment were compared with those from...
journal_title:Journal of child neurology
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doi:10.1177/08830738040190120901
更新日期:2004-12-01 00:00:00
abstract::The epilepsies in childhood are classified as primary (or idiopathic) and secondary (or symptomatic). The primary epilepsies account for two thirds of all childhood epilepsies and are presumed to be genetically determined. In the remaining one third of cases, a neuropathologic lesion can be identified. This paper summ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
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更新日期:1998-08-01 00:00:00
abstract::This study aimed to identify the age at first concern and age at referral for rehabilitation services in children with developmental disabilities in India. Two hundred fifty-nine children were included and data were collected from the parents. In children with developmental disabilities (excluding autism spectrum diso...
journal_title:Journal of child neurology
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abstract::The intrauterine onset of convulsive syndromes has been documented only rarely, and previous reports have lacked detailed neuropathologic description. This report details a case of severe, intractable myoclonic encephalopathy, which, on the basis of severely abnormal paroxysmal fetal movement patterns confirmed by ant...
journal_title:Journal of child neurology
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abstract::Basilar artery occlusion in children is rare. The clinical diagnosis of basilar artery occlusion is often difficult because the initial neurologic findings, most frequently hemiparesis, involuntary movements, or headache, are often transient and can suggest complicated migraine, seizures, or both. We have reviewed 37 ...
journal_title:Journal of child neurology
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更新日期:2003-07-01 00:00:00
abstract::This cross-sectional study was planned to study the blood ammonia levels in epileptic children on 2 dose ranges of valproic acid monotherapy. A total of 60 epileptic children aged 3 months to 12 years, that were on valproic acid monotherapy for at least 3 months, were enrolled and divided into 2 groups, a low-dose gro...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810377235
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:Acute flaccid myelitis has emerged as the leading cause of acute flaccid paralysis in children. Acute flaccid myelitis leads to significant physical disability; hence, objective outcome measures to study disease severity and progression are desirable. In addition, nerve transfer to improve motor function in ...
journal_title:Journal of child neurology
pub_type: 杂志文章
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更新日期:2020-11-01 00:00:00
abstract::Cerebral venous sinus compression can mimic idiopathic intracranial hypertension. The authors report the case of a 12-year-old girl who presented with diplopia and papilledema 3 weeks after a head injury. Lumbar puncture confirmed raised intracranial pressure, and neuroimaging subsequently identified a skull fracture ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807300532
更新日期:2007-03-01 00:00:00
abstract::Development of acylcarnitine and amino acid profiling using tandem mass spectrometry, and its application for use with dried blood specimens collected on filter-paper cards, has introduced an innovative new technology for detecting inborn errors of fatty acid, organic acid, and amino acid metabolism. From November 1, ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073899014001021
更新日期:1999-11-01 00:00:00
abstract::Pyridoxine-dependent seizures are a rare condition recognized when numerous seizures respond to pyridoxine treatment and recur on pyridoxine withdrawal. For decades the diagnosis was confirmed only with pyridoxine treatment withdrawal trial. Recently described biochemical and molecular pathology improved the diagnosti...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808318543
更新日期:2008-12-01 00:00:00
abstract::Multiple sclerosis onset in youth is increasingly recognized. A systematic review was conducted to assess incidence and prevalence of pediatric-onset multiple sclerosis, focusing on occurrence by age subgroups and disease course. A literature search for the period 1965-2018 was carried out, selecting population-based ...
journal_title:Journal of child neurology
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更新日期:2019-10-01 00:00:00
abstract::Lamotrigine is a new antiepileptic drug that may possess unique cognitive and behavioral characteristics. Although lamotrigine can produce neurobehavioral toxicity, it is generally well tolerated. In one study directly comparing lamotrigine to placebo as add-on therapy in patients with intractable epilepsy, no objecti...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
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更新日期:1997-11-01 00:00:00