Rett syndrome: a mitochondrial disease?

abstract：BACKGROUND:We developed and validated a Spanish seizure screen for children based on a previously validated English seizure screen that could be administered by a trained research assistant in a 2-step process, approximating the clinical diagnostic process of a pediatric epilepsy specialist. This questionnaire was desi...

journal_title：Journal of child neurology

authors： Torres AR,Camayd-Muñoz C,Alvarado MC,Perez B,Pou J,Hereen T,Jonas R,Douglass LM

更新日期：2020-12-18 00:00:00

abstract：:Paroxysmal kinesigenic dyskinesia is a rare episodic movement disorder that can be isolated or associated with benign infantile seizures as part of choreoathetosis syndrome. Mutations in the PRRT2 gene have been recently identified as a cause of paroxysmal kinesigenic dyskinesia and infantile convulsion and choreoathe...

journal_title：Journal of child neurology

authors： Zhang LM,An Y,Pan G,Ding YF,Zhou YF,Yao YH,Wu BL,Zhou SZ

更新日期：2015-09-01 00:00:00

abstract：:We report the clinical course of a 4-year-old girl with chronic cerebellitis (onset 2 days after diphtheria-pertussis-tetanus vaccination at 1 year and 7 months old) associated with anti-glutamate receptor delta 2 antibody, who improved dramatically with steroid therapy (methylprednisolone pulse therapy plus oral pred...

journal_title：Journal of child neurology

authors： Kubota M,Takahashi Y

更新日期：2008-02-01 00:00:00

abstract：:In lieu of traditional training of examiners to identify cerebral palsy on a neurologic examination at age 1 year, we proposed an alternative approach using a multimedia training video and CD-ROM we developed after a two-step validation process. We hypothesized that use of CD-ROM interactive training will lead to reli...

journal_title：Journal of child neurology

authors： Kuban KC,O'Shea M,Allred E,Leviton A,Gilmore H,DuPlessis A,Krishnamoorthy K,Hahn C,Soul J,O'Connor SE,Miller K,Church PT,Keller C,Bream R,Adair R,Miller A,Romano E,Bassan H,Kerkering K,Engelke S,Marshall D,Milow

更新日期：2005-10-01 00:00:00

abstract：:A 12-year-old boy presented with complaints of seizures since the age of 7 years. Seizure semiology was consistent with origin from the right temporal lobe. Magnetic resonance imaging of the brain revealed a large right temporal and multiple small intracranial cavernomatous hemangiomas. The imaging findings and clinic...

journal_title：Journal of child neurology

authors： Sharma S,Sankhyan N,Gulati S,Kumar A

更新日期：2010-11-01 00:00:00

abstract：:A 12-year-old boy with perinatally acquired human immunodeficiency virus infection an d Centers for Disease Control and Prevention class C3 disease presented with acute onset of confusion and a right-sided movement disorder 5 months after beginning a new antiretroviral regimen. His CD4 count had been below 50 cells/mi...

journal_title：Journal of child neurology

authors： Bonkowsky JL,Christenson JC,Nixon GW,Pavia AT

更新日期：2002-06-01 00:00:00

abstract：:The combination of pontocerebellar hypoplasia and anterior horn cell degeneration is classified as pontocerebellar hypoplasia type 1. Although most cases exhibit severe muscle weakness and hypotonia neonatally with short life spans, some cases exhibit a later onset with a longer life span and show cerebellar atrophy w...

journal_title：Journal of child neurology

authors： Sanefuji M,Kira R,Matsumoto K,Gondo K,Torisu H,Kawakami H,Iwaki T,Hara T

更新日期：2010-11-01 00:00:00

abstract：:We recruited 128 neonates with hyperbilirubinemia over a 5-year period (1995-2000) to study the short- and long-term effects of hemolytic hyperbilirubinemia on the auditory brainstem pathway and neurodevelopmental status. These children were divided into two groups: (1) a hemolytic group (n = 29; ABO incompatibility [...

journal_title：Journal of child neurology

authors： Chen WX,Wong VC,Wong KY

更新日期：2006-06-01 00:00:00

abstract：:Seizures occur more frequently early in life. Some of these early seizures may eventually become epilepsy. Others are reactive seizures due to excessive environmental stimuli that, in any other age group, might not have elicited a similar response. To understand the developmental aspects of seizures and epilepsy in hu...

journal_title：Journal of child neurology

authors： Kubová H,Moshé SL

更新日期：1994-10-01 00:00:00

abstract：:We retrospectively analyzed the medical documentation of 194 children infected with Epstein-Barr virus. The diagnosis was based on clinical symptoms and the presence of the viral capsid antigen IgM antibody. Patients with severe neurologic complications also underwent neurologic examination, magnetic resonance imaging...

journal_title：Journal of child neurology

authors： Mazur-Melewska K,Breńska I,Jończyk-Potoczna K,Kemnitz P,Pieczonka-Ruszkowska I,Mania A,Służewski W,Figlerowicz M

更新日期：2016-05-01 00:00:00

abstract：:Managing severe epilepsy syndromes of early childhood is challenging as the seizures are typically resistant to treatment and may cause disabling mental and behavioral problems in later life. A comprehensive treatment plan includes pharmacologic, nonpharmacologic, and surgical options. This article reviews clinical st...

journal_title：Journal of child neurology

authors： Wheless JW

更新日期：2009-08-01 00:00:00

abstract：:Two pharmacoeconomic studies on the treatment of acute seizures have been conducted. In 1991, Kriel and colleagues surveyed parents of children with a history of cluster seizures, prolonged seizures, or status epilepticus who had been instructed in the use of rectal diazepam. A comparison of data before instruction wi...

journal_title：Journal of child neurology

authors： Graves N

更新日期：1998-10-01 00:00:00

abstract：:We describe the clinical utility of echo-planar diffusion-weighted imaging in neonatal cerebral infarction. Eight full-term neonates aged 1 to 8 days referred for neonatal seizures were studied. Patients were followed for a mean of 17 months with detailed neurologic examinations at regular intervals. Head computed tom...

journal_title：Journal of child neurology

authors： Krishnamoorthy KS,Soman TB,Takeoka M,Schaefer PW

更新日期：2000-09-01 00:00:00

abstract：:To report the authors' experience with diagnosis and management of Dravet syndrome, or severe myoclonic epilepsy in infancy, in the era of commercially available genetic testing, the authors performed a retrospective study of 16 patients diagnosed with Dravet syndrome at a tertiary care pediatric epilepsy center. They...

journal_title：Journal of child neurology

authors： Korff C,Laux L,Kelley K,Goldstein J,Koh S,Nordli D Jr

更新日期：2007-02-01 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

authors： Ronen GM,Rosenbaum MP,Streiner DL

更新日期：2000-12-01 00:00:00

abstract：:The level of parental stress in families of children with autism and other developmental disabilities and its association with child comorbid symptoms was studied in an ethnically diverse population, in a cross-sectional study with structured interview. The sample included 50 families of children with autism and 50 fa...

journal_title：Journal of child neurology

authors： Valicenti-McDermott M,Lawson K,Hottinger K,Seijo R,Schechtman M,Shulman L,Shinnar S

更新日期：2015-11-01 00:00:00

abstract：:Five children presented in the first months of life with progressive megalencephaly and leukodystrophy characterized by diffuse swelling of the white matter, cystic cavitations in frontal and temporal lobes, and a slow progressive course contrasting with the intensity of the leukodystrophic process. Four had epilepsy....

journal_title：Journal of child neurology

authors： Goutières F,Boulloche J,Bourgeois M,Aicardi J

更新日期：1996-11-01 00:00:00

abstract：:To determine whether findings on videofluoroscopic swallow studies reveal different patterns of dysphagia between children with central and peripheral neurologic disorders, a retrospective study of 118 videofluoroscopic swallow studies was completed. There were 3 groups: cerebral palsy with only spastic features (n = ...

journal_title：Journal of child neurology

authors： van den Engel-Hoek L,Erasmus CE,van Hulst KC,Arvedson JC,de Groot IJ,de Swart BJ

更新日期：2014-05-01 00:00:00

abstract：:Lissencephaly is a brain malformation manifested by a smooth cerebral surface and caused by incomplete neuronal migration. Clinical sequellae include minor craniofacial changes (bitemporal hollowing, small jaw), severe mental retardation, and other neurological abnormalities. Patients with classical or type I lissence...

journal_title：Journal of child neurology

authors： Pavone L,Gullotta F,Incorpora G,Grasso S,Dobyns WB

更新日期：1990-01-01 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

authors： Galasso C,Lo-Castro A,Di Carlo L,Pitzianti MB,D'Agati E,Curatolo P,Pasini A

更新日期：2014-10-01 00:00:00

abstract：:Multiple risk factors contribute to cognitive impairment in children with β-thalassemia major. For a more refined understanding of this issue, we attempted to evaluate cognitive function in β-thalassemia major patients and identify the relationship between possible cognitive dysfunction and the following: demography, ...

journal_title：Journal of child neurology

authors： Raafat N,El Safy U,Khater N,Hassan T,Hassan B,Siam A,Youssef A,El Shabrawy A

更新日期：2015-03-01 00:00:00

abstract：:During the 4-year period, 1982-1986, 18 patients presented to the Children's Hospital, Camperdown, Sydney, with the following features: (1) Recurrent "absences" clinically indistinguishable from childhood absence epilepsy, (2) Normal clinical examination, (3) Electroencephalogram (EEG) demonstrating normal waking back...

journal_title：Journal of child neurology

authors： North KN,Ouvrier RA,Nugent M

更新日期：1990-10-01 00:00:00

abstract：:The failure to diagnose an ependymoma at an appropriately early age led to an incomplete excision and a tumor burden too great for radiotherapy to control. The development of normative curves for brain weight correlated with head circumference allowed for the estimates of the extremes of possible growth rates of the t...

journal_title：Journal of child neurology

authors： Alvord EC Jr

更新日期：1986-07-01 00:00:00

abstract：:Baclofen is widely used to control spasticity in children with cerebral palsy. Several publications described clinical adverse effects of baclofen oral treatment, but the effect of baclofen on seizure potentiation is still controversial. We describe a 10-year-old female patient with cerebral palsy, epilepsy, and menta...

journal_title：Journal of child neurology

authors： De Rinaldis M,Losito L,Gennaro L,Trabacca A

更新日期：2010-10-01 00:00:00

abstract：:The clinical and laboratory data of four pediatric patients and one adult patient with inverted duplication (inv dup) (15) are reported. The most evident findings were dysmorphic features with frontal bossing; genital abnormalities, such as macropenis or hypospadias; mental retardation; autistic behavior; and seizures...

journal_title：Journal of child neurology

authors： Buoni S,Sorrentino L,Farnetani MA,Pucci L,Fois A

更新日期：2000-06-01 00:00:00

abstract：:Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. Epidemiologic data suggest that malnutrition is a common feature in amyotrophic lateral sclerosis and being overweight or obese confers a survival advantage in this patient population. In amyotrophic lateral sclerosis mouse models, a high-fat diet has...

journal_title：Journal of child neurology

authors： Paganoni S,Wills AM

更新日期：2013-08-01 00:00:00

abstract：:Understanding patterns of medical comorbidity in attention-deficit/hyperactivity disorder (ADHD) may lead to better treatment of affected individuals as well as aid in etiologic study of disease. This article provides the first systematic evaluation on the medical comorbidity of ADHD in a nationally representative sam...

journal_title：Journal of child neurology

authors： Jameson ND,Sheppard BK,Lateef TM,Vande Voort JL,He JP,Merikangas KR

更新日期：2016-10-01 00:00:00

abstract：:There are conflicting results concerning bone metabolism in children receiving antiepileptic medication, with data concentrating on neurologically impaired patients. We performed a multicenter cross-sectional study in otherwise healthy children who received monotherapy with valproic acid, oxcarbazepine, lamotrigine, s...

journal_title：Journal of child neurology

authors： Borusiak P,Langer T,Heruth M,Karenfort M,Bettendorf U,Jenke AC

更新日期：2013-02-01 00:00:00

abstract：:Schilder's myelinoclastic diffuse sclerosis is a rare sporadic demyelinating disease that usually affects children between 5 and 14 years old. The disease often mimics intracranial neoplasm or abscess. We report a 9-year-old girl with Schilder's disease who presented with left hemiparesis. Cranial computed tomography ...

journal_title：Journal of child neurology

authors： Kurul S,Cakmakçi H,Dirik E,Kovanlikaya A

更新日期：2003-01-01 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

authors： Young H,Hyman S,North K

更新日期：2002-08-01 00:00:00