Abstract:
:Children with Rett syndrome manifest profound impairments in their ability to speak and use their hands, and exhibit a very limited repertoire of abilities to express themselves, to be neuropsychologically tested, and consequently to be understood. This study examined nonverbal cognitive abilities and visual preferences by analyzing the pattern of visual fixation in 49 girls with Rett syndrome, compared with a group of typical control subjects. The girls with Rett syndrome demonstrated a tendency toward socially weighted stimuli/social preferences. They looked at people, and into people's eyes. Eye tracking represents a feasible method to assess cognition, and provide insights into the burden of isolation of these children and the mismatch between their social preferences and incompetence, caused by movement disorder and apraxia.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Djukic A,McDermott MVdoi
10.1016/j.pediatrneurol.2012.01.011subject
Has Abstractpub_date
2012-04-01 00:00:00pages
240-2issue
4eissn
0887-8994issn
1873-5150pii
S0887-8994(12)00019-7journal_volume
46pub_type
杂志文章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:This study developed a Farsi language Communication Function Classification System and then tested its reliability and validity. METHODS:Communication Function Classification System is designed to classify the communication functions of individuals with cerebral palsy. Up until now, there has been no instru...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.10.026
更新日期:2015-03-01 00:00:00
abstract:BACKGROUND:Clinically mild encephalopathy with a reversible splenial lesion (MERS) is the second commonest cause of encephalopathy. Several pathogens have been detected in patients with MERS type 2, such as influenza A and B, but little is known about the proportion of cases of MERS type 2 with this pathogenesis. Human...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2020.08.021
更新日期:2020-12-01 00:00:00
abstract::Epilepsy is a serious chronic brain disorder of childhood. We performed a cross-sectional prevalence study, determined the prevalence of childhood epilepsy, and identified the significance of certain risk factors for epilepsy among 1625 primary-school students aged 6-14 years, living in the center of Kars province. A ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.04.007
更新日期:2012-07-01 00:00:00
abstract:BACKGROUND:Pediatric critical care survivors often suffer persisting multisystem health problems and are left with treatment needs that go unmet due to limits in current care models. We proposed that integration of neuropsychology into neurocritical care follow-up provides incremental benefit to the identification and ...
journal_title:Pediatric neurology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.pediatrneurol.2018.09.007
更新日期:2018-12-01 00:00:00
abstract:BACKGROUND:Classic L-dopa-responsive dystonia is characterized by the triad of dystonia, diurnal fluctuation of signs, and dramatic response of signs to low-dose L-dopa therapy. Dopa-responsive dystonia succinctly summarizes the relevant clinical features. However, literal application of this label or consideration of ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2015.12.016
更新日期:2016-06-01 00:00:00
abstract:BACKGROUND:Rachischisis totalis is a rare open neural tube defect often associated with lethal acrania. When acrania is not present, mortality remains high and morbidity for survivors is extreme. PATIENT:We describe is a term newborn with in-utero diagnosed rachischisis totalis without acrania and Chiari II malformati...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.02.019
更新日期:2014-07-01 00:00:00
abstract::Visual symptomatology in childhood often presents diagnostic difficulties. Recurrent paroxysmal visual complaints, although typically associated with migraine, may also signal other disorders. We describe a 9-year-old partially sighted male with paroxysmal zoopsias resulting from Charles Bonnet syndrome. This conditio...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(01)00358-7
更新日期:2002-02-01 00:00:00
abstract:BACKGROUND:Rituximab (anti-CD20) has been used as B-cell-targeted intervention to treat opsoclonus-myoclonus syndrome. Due to isolated reports of chronic hypogammaglobulinemia and B lymphopenia following rituximab in several disorders, and rapid B-cell depletion after a few doses, we reduced the dosage 20% in our clini...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2018.05.003
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVE:To investigate clinical risk factors for acute magnetic resonance imaging (MRI) abnormalities in patients with benign convulsions with mild gastroenteritis or benign infantile epilepsy. STUDY DESIGN:We investigated clinical and diffusion-weighted imaging findings in 32 patients with benign convulsions with m...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2019.05.002
更新日期:2020-08-01 00:00:00
abstract::We describe the association of brain death in an infant with a large cutaneous hemangioma of the forearm. The irreversible cerebral injury is presumed to be secondary to cerebral hypoperfusion as a result of a combination of systemic hypotension and a systemic vascular "steal" phenomenon caused by the cutaneous hemang...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(90)90083-d
更新日期:1990-01-01 00:00:00
abstract::A 6-year-old girl (Patient 1) and a 5-year-old boy (Patient 2) with acute disseminated encephalomyelitis after Japanese B encephalitis vaccination are reported. Drowsiness, paresthesias, and gait disturbance were observed at 14 days (Patient 1) and 17 days (Patient 2) after the vaccination; however, transient impairme...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(92)90036-x
更新日期:1992-03-01 00:00:00
abstract:BACKGROUND:To determine the cost and efficacy of admitting patients for intravenous dihydroergotamine treatment and to identify factors associated with a higher likelihood of response to treatment. METHODS:We performed a retrospective review of all pediatric hospitalizations from 2001 to 2010 for intravenous dihydroer...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2016.09.009
更新日期:2017-01-01 00:00:00
abstract::The historic and current status of Hallervorden-Spatz syndrome diagnosis, classification, and therapies are discussed. A number of symptomatic therapies are available and should be used optimally for each patient. Although one gene locus has been identified, many patients do not manifest linkage to the NBIA1 locus (ne...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s0887-8994(01)00253-3
更新日期:2001-08-01 00:00:00
abstract::We report on the case of a 6-year-old boy with epilepsy involving febrile seizures and unprovoked generalized tonic clonic seizures. Genetic testing revealed a novel de novo mutation in the SCN1A gene (C>T 4786, R1596C). The epilepsy phenotype is within the spectrum of generalized epilepsy with febrile seizures plus. ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2007.06.008
更新日期:2007-10-01 00:00:00
abstract::According to increasing evidence, hypothermia can significantly improve outcomes in term neonates manifesting asphyxic insult and hypoxic-ischemic encephalopathy. Oxidative stress plays a key role in hypoxic-ischemic and inflammatory brain injuries. We investigated the impact of hypothermia on oxidative stress in babi...
journal_title:Pediatric neurology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.pediatrneurol.2010.05.009
更新日期:2010-10-01 00:00:00
abstract::We describe eight cases of pediatric patients whose neuroimages performed after seizures revealed abnormalities that were compatible with edema surrounding calcified lesions and which disappeared in subsequent examinations. ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(01)00324-1
更新日期:2001-10-01 00:00:00
abstract::The clinical spectrum of the congenital muscular dystrophies is reviewed using as a sample population 10 Sicilian patients with various clinical subtypes. A comprehensive classification scheme for the muscular dystrophies is presented based on recent advances in our understanding of this heterogeneous group of syndrom...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/0887-8994(95)00148-9
更新日期:1995-09-01 00:00:00
abstract::Obstetrical brachial plexus palsy, one of the most complex peripheral nerve injuries, presents as an injury during the neonatal period. The majority of the children recover with either no deficit or a minor functional deficit, but it is almost certain that some will not regain adequate limb function. These few cases m...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2007.09.013
更新日期:2008-04-01 00:00:00
abstract::Clonidine is used as second-line medication for the treatment of attention deficit hyperactivity disorder in children. Product information concerning clonidine reported seizures only after overdosage of clonidine, and the prescription of clonidine has not been contraindicated in patients with known epilepsy. The prese...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2007.09.016
更新日期:2008-02-01 00:00:00
abstract::In patients who undergo metabolic decompensation from urea cycle disorders, cerebrospinal fluid glutamine level may be a better marker of cerebral dysfunction than blood ammonia or glutamine levels. However, obtaining cerebrospinal fluid by lumbar puncture carries risk in these acutely ill patients with cerebral edema...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2004.07.013
更新日期:2005-02-01 00:00:00
abstract::Sporadic nonsyndromic cerebellar hypoplasia is a radiological diagnosis with clinical features and a relation with developmental disability that are presently not known. Through a retrospective review of a comprehensive standardized computerized database containing more than 2,500 patients examined consecutively by a ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(96)00220-2
更新日期:1996-10-01 00:00:00
abstract::Idiopathic soft palate paralysis is an isolated clinical entity of unknown cause. Typical clinical features are sudden onset, rhinolalia, and nasal escape of fluids from the ipsilateral nostril. The disorder affects mainly male children at the ages of 2 to 3 years and resolves spontaneously. This report presents a 5-y...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.02.014
更新日期:2005-08-01 00:00:00
abstract::A canine gliosarcoma model was used to study the effectiveness of magnetic resonance imaging (MRI) with gadolinium contrast enhancement in defining the histologic margins of brain tumors. The effectiveness of this technique was compared to conventional computed tomography (CT) using iodinated contrast enhancement. Cul...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(88)90066-5
更新日期:1988-09-01 00:00:00
abstract::Primary malignant melanoma of the meninges is described in a 5-year-old boy who presented with a 3-month history suggestive of subacute meningitis. Clinically the diagnosis of tuberculous meningitis was made and antituberculous treatment was begun. Despite this treatment, the patient's condition continued to deteriora...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(94)00155-u
更新日期:1995-02-01 00:00:00
abstract:BACKGROUND:Concern exists regarding a possible harmful impact of vacuum extraction on the preterm newborn. We aimed to evaluate the long-term pediatric neurodevelopmental outcomes of the preterm offspring after vacuum extraction. METHODS:A population-based cohort analysis was performed comparing the risk for long-term...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2018.12.010
更新日期:2019-05-01 00:00:00
abstract:BACKGROUND:Nuclear polymerase gamma (POLG) mutations are the most common cause of inherited mitochondrial disease. POLG mutation diseases have a broad spectrum of clinical manifestations; the lethal infantile form is myocerebrohepatopathy spectrum. PATIENT:A 4-month-old boy was referred for poor feeding, emesis, failu...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.06.015
更新日期:2014-11-01 00:00:00
abstract::Acute disseminated encephalomyelitis is an inflammatory disorder of the central nervous system. Uniform diagnostic criteria for acute disseminated encephalomyelitis did not exist until publication of expert-defined consensus definitions by the International Pediatric Multiple Sclerosis Society Group in 2007, with upda...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2019.06.017
更新日期:2019-11-01 00:00:00
abstract::Occipital lobe epilepsy in children can present as an idiopathic form (i.e., childhood epilepsy with occipital paroxysms) or as a symptomatic form. Forty-three children (18 boys, 25 girls) were divided into the idiopathic group or symptomatic group, according to the classification for epileptic seizures of the Interna...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2007.02.004
更新日期:2007-06-01 00:00:00
abstract::This report describes a female with eyelid fluttering with absence seizures, infrequent generalized tonic-clonic seizures, and mild mental retardation. Interictal and video-electroencephalography evaluations revealed normal activity while eyes were open but continuous generalized discharges with eyes closed (eyes clos...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2006.05.010
更新日期:2006-11-01 00:00:00