Abstract:
:Visual electrophysiological techniques represent excellent means for assessing retinal, optic pathways and visual cortex function. Electroretinograms, visual evoked potentials, and clinical records of 17 patients with mucopolysaccharidosis registered in the neurophysiological database of our institution were reviewed retrospectively. Ten patients were on enzyme replacement therapy, 2 underwent bone marrow transplantation, one also keratoplasty. Changes in the electroretinogram pointed to the diagnosis of retinal dystrophy type rod-cone in 8 patients. In patients in whom severe corneal clouding precluded fundus oculi inspection and at an early stage before typical fundus appearance diagnosis was possible only using the electroretinogram. Visual evoked potentials were useful to confirm the loss of visual function in patients difficult to test clinically. The authors suggest the use of electroretinogram and visual evoked potentials primarily as research tools to describe the natural history and ophthalmologic outcome in mucopolysaccharidoses, although they may have clinical utility in very selected cases.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Suppiej A,Rampazzo A,Cappellari A,Traverso A,Tormene AP,Pinello L,Scarpa Mdoi
10.1177/0883073812453322subject
Has Abstractpub_date
2013-10-01 00:00:00pages
1203-9issue
10eissn
0883-0738issn
1708-8283pii
0883073812453322journal_volume
28pub_type
杂志文章abstract::Two children with isolated congenital anosmia, a rare syndrome of deficient restricted neuronal migration, are presented with early diagnosis confirmed by standardized smell testing and detailed neuroimaging studies. Recognition of this disorder and its spectrum of presentations provides important insights into the mo...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389801300404
更新日期:1998-04-01 00:00:00
abstract::We describe a fatal case of mumps virus-associated acute encephalopathy. In terms of the clinical course and cytokine as well as chemokine profiles, the pathogenesis in our case was different from that of mumps meningoencephalitis but was similar to that of influenza virus-associated acute encephalopathy. ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073812441060
更新日期:2013-02-01 00:00:00
abstract::After an initial patient with cerebral palsy had an apparent dramatic reduction in spasticity when placed on modafinil, a pilot study was undertaken in 10 pediatric patients to confirm or refute the benefit of modafinil in cerebral palsy. Nine of 10 patients completed the 1-month treatment period. The study patients w...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700303
更新日期:2002-03-01 00:00:00
abstract::Apneic neonatal seizures can present as apparent life-threatening events. We report a newborn with unexplained episodes of apnea associated with cyanosis and desaturation, starting on the first day postpartum. Biochemical tests were normal. Central nervous system infections as well as abnormalities of upper airways an...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813481403
更新日期:2014-07-01 00:00:00
abstract::The purpose of this study was to assess the cognitive development of 27 children with nonhemorrhagic neonatal stroke (occurring within the first 28 days of life). The cognitive evaluation consisted of the Bayley Scales of Infant Development, administered at 12 and/or 24 months poststroke. Compared with the normative s...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807305784
更新日期:2007-09-01 00:00:00
abstract::The aim of this study was to investigate the alteration of the gait pattern in 25 children with Duchenne muscular dystrophy, using body-worn inertial sensors during a long walking distance. Normalized spatiotemporal gait parameters and their variability were extracted from the angular velocity of the shanks; the smoot...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811413581
更新日期:2012-01-01 00:00:00
abstract::Current guidelines permitting return to play for athletes who have sustained a concussion rely on resolution of cognitive and physical symptoms. Evolving evidence suggest that vascular, radiologic and cerebral metabolic abnormalities persist in some athletes beyond the period of clinical recovery. This commentary addr...
journal_title:Journal of child neurology
pub_type: 社论
doi:10.1177/0883073818790169
更新日期:2018-10-01 00:00:00
abstract::We studied eight patients with rigid spine syndrome aged 8 to 20 years at the time of first examination. Muscle weakness, rigid spine, and flexion contracture of elbows and ankles were noted in the first 6 years of age. Radiological study of the cervical spine revealed considerable reduction not only of flexion, but a...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388900400405
更新日期:1989-10-01 00:00:00
abstract::Neurofibromatosis type 1 is associated with executive dysfunctions and comorbidity with attention-deficit hyperactivity disorder (ADHD) in 30% to 50% of children. This study was designed to clarify the neurocognitive phenotype observed in neurofibromatosis type 1 by testing the hypothesis that children with neurofibro...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813517001
更新日期:2014-10-01 00:00:00
abstract::Executive dysfunction occurs in sickle cell anemia, but there are few early data. Infants with sickle cell anemia (n = 14) and controls (n = 14) performed the "A-not-B" and Object Retrieval search tasks, measuring precursors of executive function at 9 and 12 months. Significant group differences were not found. Howeve...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812453495
更新日期:2013-10-01 00:00:00
abstract::Primary hypertension is associated with decreased performance on neurocognitive testing and a blunted cerebrovascular reactivity to hypercapnia. Parents of 14 children with hypertension and prehypertension completed the Behavior Rating Inventory of Executive Functions. Children underwent 24-hour ambulatory blood press...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813494264
更新日期:2015-04-01 00:00:00
abstract::The first case of Chikungunya virus in Honduras was identified in 2014. The virus has spread widely across Honduras via the Aedes aegypti mosquito, leading to an outbreak of Chikungunya virus (CHIKV) in 2015 that significantly impacted children. A retrospective chart review of 235 children diagnosed with CHIKV and adm...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073817701879
更新日期:2017-07-01 00:00:00
abstract::Two siblings with familial encephalopathy, calcification of the basal ganglia, and cerebrospinal fluid lymphocytosis, constituting the triad of Aicardi-Goutieres syndrome, are reported. This syndrome resembles congenital intrauterine infections, which must be meticulously excluded. Aicardi-Goutieres syndrome is extrem...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101601009
更新日期:2001-10-01 00:00:00
abstract::An infant with a neonatal form of nemaline myopathy showed ultrastructural features of muscle immaturity. Immaturity was characterized by an abnormal presence of myotubes, as well as cells in clusters within a common basement membrane and a great number of satellite cells adhering to very small muscle fibers. In addit...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389000500209
更新日期:1990-04-01 00:00:00
abstract::Generalized edema can occur during the course of juvenile dermatomyositis. In this article, a 4-year-old boy with generalized nonpitting edema and proximal weakness is reported. Characteristic cutaneous lesions, laboratory tests, results of electromyography, and magnetic resonance imaging findings resulted in a diagno...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808318544
更新日期:2008-11-01 00:00:00
abstract::We report preliminary studies in 18 girls with Rett syndrome (15 typical, three atypical cases) who were studied using a number of neuropsychologic measures. Results indicate a relative preservation of gross motor and daily living skills at the developmental level of the age of onset of the condition. Other adaptive f...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073888003001s05
更新日期:1988-01-01 00:00:00
abstract::Donnai-Barrow syndrome is a rare autosomal recessive disorder first described in 1993. This report presents ocular manifestations of this rare autosomal recessive disorder through 2 additional cases. Ocular features include hypertelorism, down-slanting palpebral fissures, iris coloboma, high myopia, and retinal detach...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807301933
更新日期:2007-04-01 00:00:00
abstract::Neurofibromatosis 1 is an autosomal dominant, multisystem disorder with myriad clinical manifestations. Between 1991 and 1998, 495 adults and children were diagnosed with neurofibromatosis 1 at a specialized neurogenetics clinic in Sydney, Australia. This review establishes the prevalence of the clinical manifestation...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700812
更新日期:2002-08-01 00:00:00
abstract:OBJECTIVE:Intravenous immunoglobulin and plasma exchange are proven treatments for Guillain-Barré syndrome. Despite these treatments, the prognosis for severe Guillain-Barré syndrome is still not satisfactory. This article seeks for a logical timing for plasma exchange-intravenous immunoglobulin synergy, which may impr...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819826225
更新日期:2019-04-01 00:00:00
abstract::Motor speed and accuracy are both affected in childhood dystonia. Thus, deriving a speed-accuracy function is an important metric for assessing motor impairments in dystonia. Previous work in dystonia studied the speed-accuracy trade-off during point-to-point tasks. To achieve a more relevant measurement of functional...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073815578526
更新日期:2015-10-01 00:00:00
abstract::We report a 6-month-old boy with diffuse hypertonia and developmental delay who had unilateral separated-lip schizencephaly and contralateral polymicrogyria. The contralateral polymicrogyria was associated with an incomplete clefting in that hemisphere. An umbilical cord hamartoma is presumed to have caused hypoperfus...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180031401
更新日期:2003-03-01 00:00:00
abstract::Concussion is a known risk in youth soccer, but little is known about subconcussive head impacts. The authors provided a prospective cohort study measuring frequency and magnitude of subconcussive head impacts using accelerometry in a middle school-age soccer tournament, and association between head impacts and change...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073816634857
更新日期:2016-07-01 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
pub_type: 杂志文章,评审
doi:10.1177/088307380401900510
更新日期:2004-05-01 00:00:00
abstract:UNLABELLED:This study evaluates whether the literature-reported potential predictors can predict the outcome of multilevel botulinum toxin A injections in children who walk with flexed knees. The associations between 11 different predictors and 2 different outcome measures (the Gross Motor Function Measure and knee ang...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1177/0883073807313039
更新日期:2008-06-01 00:00:00
abstract::Urinary excretion of acetylcarnitine was measured by high-performance liquid chromatography in two experimental groups of valproate-treated rats. In the urine of mature rats weighing 180 to 200 g treated with valproate (500 mg/kg/day), acetylcarnitine levels were higher than those in controls on days 4 and 7, while L-...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389200700414
更新日期:1992-10-01 00:00:00
abstract::To determine the plasma baclofen concentrations of children undergoing continuous intrathecal baclofen infusion for treatment of cerebral spasticity, we assayed plasma samples from six children, 8 to 18 years of age, who were receiving intrathecal baclofen at constant rates of 77 to 400 micrograms/day. Plasma levels w...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/088307389901400611
更新日期:1999-06-01 00:00:00
abstract::Congenital adrenal hyperplasia could provide a promising model for the study of the effects of hormones on cognition. The aim of this study was to assess sexual dimorphic abilities related to oral language, spatial abilities, and verbal fluency and to determine the existence of learning disabilities in 11 congenital g...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808315618
更新日期:2008-08-01 00:00:00
abstract::Diamond-Blackfan anemia is a congenital hypoproliferative anemia known to be associated with diverse physical anomalies affecting the thumb, craniofacial bones, urogenital system, and heart; prematurity; and fetal demise. We report the case of a 16-month-old boy with Diamond-Blackfan anemia noted to have decreased use...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180111301
更新日期:2003-11-01 00:00:00
abstract::Sensory rhizotomy in the treatment of spasticity has been evolving over the past century since its first use in 1888. This paper reviews its historical evolution, current physiologic basis, range in current surgical technique, and the outcome, along with complications seen over the past decade since its repopularizati...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073896011001S06
更新日期:1996-11-01 00:00:00
abstract::Duchenne muscular dystrophy results in a broad spectrum of physical and psychosocial consequences, both to patient and caregivers. This study was aimed to explore health-related quality of life and its possible determinants in Duchenne muscular dystrophy children and in their parents. Caregivers (21 mothers and 6 fath...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810389043
更新日期:2011-06-01 00:00:00