Autism Phenotypes in Tuberous Sclerosis Complex: Diagnostic and Treatment Considerations.

abstract：:We report a juvenile patient who developed vertebrobasilar occlusion following nonpenetrating head and neck trauma, with complete recovery. The patient presented with transient signs of brain-stem dysfunction that were secondary to embolization and/or extension of a thrombus. He was treated with anticoagulants. We hav...

journal_title：Journal of child neurology

authors： Pitter JH,French JH,PeBenito R,Hotson GC

更新日期：1990-07-01 00:00:00

abstract：:A pilot case-control study was done to collect data on whether susceptibility to newborn encephalopathy and neonatal seizures is influenced by the degree of maternal-fetal sharing of HLA antigens. Cases included 13 infants with moderate or severe newborn encephalopathy and seven infants with neonatal seizures but no o...

journal_title：Journal of child neurology

authors： Cowan LD,Hudson L,Bobele G,Chancellor I,Baker J

更新日期：1994-04-01 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：:Isolated paraventricular frontal horn cysts are sometimes encountered on cranial ultrasound examinations of preterm neonates. The etiology and clinical significance of these lesions are unclear. The authors aimed to identify antenatal/intrapartum risk factors associated with the occurrence of these cysts and to assess...

journal_title：Journal of child neurology

authors： Trawber R,Rao S,Srinivasjois R,Thonell S,Nagarajan L,French N,Jacoby P,McMichael J

更新日期：2010-11-01 00:00:00

abstract：OBJECTIVES:The objectives were to investigate the relationship between ketogenic diet therapy and neutropenia in children with epilepsy. METHODS:A retrospective chart review of children who initiated ketogenic diet at the Hospital for Sick Children between January 1, 2000, and May 1, 2018 was performed. Factors associ...

journal_title：Journal of child neurology

authors： Munro K,Keller AE,Lowe H,Ferrara E,Whitney R,Liu CYM,Zak M,Chan V,Kobayashi J,Donner EJ

更新日期：2021-01-04 00:00:00

abstract：:To identify parent-reported symptoms that predict parenting stress in preschoolers with global developmental delay, 201 parents/guardians of 142 boys and 59 girls with global delay, mean age 39.1 months (range, 18 to 63 months) were studied retrospectively. Parents completed the following: (a) a semistructured intervi...

journal_title：Journal of child neurology

authors： Tervo RC

更新日期：2012-03-01 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：:Neurological disorders, including neurodevelopmental disorders, have been identified by the World Health Organization (WHO) as one of the greatest threats to global public health. It is generally believed that these conditions are more prevalent in the developing than the developed world because of multiple known risk...

journal_title：Journal of child neurology

authors： Idro R,Newton C,Kiguli S,Kakooza-Mwesige A

更新日期：2010-04-01 00:00:00

abstract：:This study explored verbal, visual, motor, and tactile humor appreciation and comprehension among preschool children with epilepsy as compared with healthy children. Participants included 32 children with focal epilepsy, as well as 70 healthy controls. The results suggest that children with epilepsy assess humor dicho...

journal_title：Journal of child neurology

authors： Suits K,Tulviste T,Ong R,Tulviste J,Kolk A

更新日期：2012-03-01 00:00:00

abstract：:Paramyotonia congenita in 22 members of Arab (Omani) family is reported. Four generations were affected. All had early onset around 1 year of age, with myotonia and cold intolerance. Age of onset in the index case was at 3 months of age. Six members with the disease were examined and investigated. To our knowledge, th...

journal_title：Journal of child neurology

authors： Koul R,Alfutaisi A,Hira M

更新日期：2010-02-01 00:00:00

abstract：:Epilepsy, together with mental retardation, represents a common manifestation of chromosomal aberrations. Specific electroencephalographic (EEG) and epileptic patterns have been described in several chromosomal disorders, such as Angelman's syndrome, Miller-Dieker syndrome, Wolf-Hirschhorn syndrome, and ring 20 syndro...

journal_title：Journal of child neurology

authors： Grosso S,Pucci L,Farnetani M,Di Bartolo RM,Galimberti D,Mostardini R,Anichini C,Balestri M,Morgese G,Balestri P

更新日期：2004-08-01 00:00:00

abstract：:A review of the selective posterior rhizotomy procedure for reduction of spasticity in cerebral palsy is presented. The history of the procedure, selection of patients, operative technique, and results are described. The neurophysiologic basis for spasticity is considered, as well as the role of spasticity in the comp...

journal_title：Journal of child neurology

authors： Peacock WJ,Staudt LA

更新日期：1990-07-01 00:00:00

abstract：:Rett syndrome is a sporadic disorder (except for a few familial cases) occurring in 1 in 10,000 to 1 in 23,000 girls worldwide. It is associated with profound mental and motor handicap. About 90% of cases involve a mutation in the methyl-CpG binding protein 2 gene (MECP2). The role of this gene in the pathogenesis of ...

journal_title：Journal of child neurology

authors： Armstrong DD

更新日期：2005-09-01 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

authors： Kaczorowska M,Kmiec T,Jakobs C,Kacinski M,Kroczka S,Salomons GS,Struys EA,Jozwiak S

更新日期：2008-12-01 00:00:00

abstract：:Fifty-three (5%) of 1064 consecutively imaged children showed an arterial vascular pattern on magnetic resonance images, accounting for 12% of all abnormal studies. Signal abnormalities on T2-weighted scans persisted years after the clinical stroke occurrence. Ipsilateral atrophy of the pons or midbrain was found in 2...

journal_title：Journal of child neurology

authors： Smith CD,Baumann RJ

更新日期：1991-07-01 00:00:00

abstract：:Epilepsy is a very uncommon first manifestation of a neuroblastoma. A 5-month-old healthy infant presented with acute onset seizures and developmental regression. Extensive investigation was remarkable for urinary vanillylmandelic acid and homovanillic acid peaks. Abdominopelvic magnetic resonance imaging (MRI) disclo...

journal_title：Journal of child neurology

authors： Martins CL,Monteiro JP,Pereira F,Calhau P,Fonseca MJ

更新日期：2014-01-01 00:00:00

abstract：:This is the first study to evaluate the efficacy of riboflavin for migraine prophylaxis in children. This was a randomized, double-blind study of riboflavin (200 mg daily) versus placebo in 48 children. The primary efficacy measure was the number of patients achieving a 50% or greater reduction in the number of migrai...

journal_title：Journal of child neurology

authors： MacLennan SC,Wade FM,Forrest KM,Ratanayake PD,Fagan E,Antony J

更新日期：2008-11-01 00:00:00

abstract：:Although much attention has been focused on the neurological sequelae of the hereditary ataxias, patients with these conditions also may develop cardiac complications that represent a significant cause of disability and even death. In this article, the authors describe the hereditary ataxias with known cardiac involve...

journal_title：Journal of child neurology

authors： Moore S,Raman SV

更新日期：2012-09-01 00:00:00

abstract：:Acute necrotizing encephalopathy is a novel disease entity, proposed by Mizuguchi et al in 1995, that shows a characteristic selective and symmetric involvement of the thalamus, brain stem, and cerebellum. It usually leaves sequelae. The etiology of acute necrotizing encephalopathy is unknown. We describe here six pat...

journal_title：Journal of child neurology

authors： Yoshikawa H,Watanabe T,Abe T,Oda Y

更新日期：1999-04-01 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

authors： Meador KJ,Baker GA

更新日期：1997-11-01 00:00:00

abstract：:Freely available software, derived from the past 2 decades of neuroimaging research, is significantly more flexible for research purposes than presently available clinical tools. Here, we describe and demonstrate the utility of rapidly deployable analysis software to facilitate trainee-driven translational neuroimagin...

journal_title：Journal of child neurology

authors： Cohen A,Kenney-Jung D,Botha H,Tillema JM

更新日期：2017-01-01 00:00:00

abstract：:Idiopathic "benign" intracranial hypertension is an uncommon but important cause of headache that can lead to visual loss. This study was undertaken to review our experience in the diagnosis and management of idiopathic intracranial hypertension, giving special attention to treatments used. A retrospective chart revie...

journal_title：Journal of child neurology

authors： Salman MS,Kirkham FJ,MacGregor DL

更新日期：2001-07-01 00:00:00

abstract：:The frequency of cranial autonomic symptoms in children affected by primary headaches is uncertain. The aim of our study was to estimate the frequency of symptoms in pediatric headaches and correlate it with main migraine characteristics. A questionnaire investigating the presence of cranial autonomic symptoms was adm...

journal_title：Journal of child neurology

authors： Raieli V,Giordano G,Spitaleri C,Consolo F,Buffa D,Santangelo G,Savettieri G,Vanadia F,D'Amelio M

更新日期：2015-02-01 00:00:00

abstract：:Abnormal cerebral venous drainage is associated with hypoxia and glucose deprivation, which can account for progressive neurologic deterioration in Sturge-Weber syndrome. Although developmental delay is common in Sturge-Weber syndrome, bihemispheric calcification is uncommon. Computed tomography (CT) and magnetic reso...

journal_title：Journal of child neurology

authors： Maria BL,Neufeld JA,Rosainz LC,Ben-David K,Drane WE,Quisling RG,Hamed LM

更新日期：1998-12-01 00:00:00

abstract：:Sonography of the posterior fontanelle is easily performed and yields exquisite details of the outline of the major structures of the posterior fossa and the tentorium. These structures are more clearly outlined through the posterior fontanelle than via the traditional anterior fontanelle approach, probably because th...

journal_title：Journal of child neurology

authors： Maertens P

更新日期：1989-01-01 00:00:00

abstract：:The currently available scales for quantitative measurement of the severity of childhood dystonia require human observer ratings and provide poor granularity in the scores for individual limbs. We evaluated the use of new-generation high-quality touchscreens (an iPad) according with the Fitts law, which is a mathemati...

journal_title：Journal of child neurology

authors： Bertucco M,Sanger TD

更新日期：2014-11-01 00:00:00

abstract：:Intravenous immunoglobulin has been reported to be an effective treatment for infantile spasms. Juvenile spasms are electrically and clinically similar to infantile spasms but occur in a later age group. We retrospectively reviewed the charts of five children (aged 4.5-11.5 years) at our institution. Their primary sei...

journal_title：Journal of child neurology

authors： Bingel U,Pinter JD,Sotero de Menezes M,Rho JM

更新日期：2003-06-01 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

authors： Repertinger S,Fitzgibbons WP,Omojola MF,Brumback RA

更新日期：2006-07-01 00:00:00

abstract：:MECP2 duplication syndrome is an X-linked genomic disorder that is characterized by infantile hypotonia, intellectual disability, and recurrent respiratory infections. Regression affects a subset of individuals, and the etiology of regression has yet to be examined. In this study, alterations in the hypothalamus-pitui...

journal_title：Journal of child neurology

authors： Peters SU,Byiers BJ,Symons FJ

更新日期：2016-02-01 00:00:00

abstract：:Postinfectious encephalomyelitis and multiple sclerosis have clinical, immunologic, and neuroradiographic similarities. We studied HLA determinants in six white children consecutively diagnosed with postinfectious encephalomyelitis. Each of the children had HLA determinants which have been associated with multiple scl...

journal_title：Journal of child neurology

authors： Woody RC,Steele RW,Charlton RK,Smith V

更新日期：1989-07-01 00:00:00