Classification and natural history of the neuronal ceroid lipofuscinoses.

abstract：:The electrophysiologic findings in an infant with congenital facial diplegia (Möbius syndrome) are presented. As to serial electrically elicited blink reflexes, the R1 amplitude was significantly reduced and the R2 latency was significantly prolonged. The M response of the orbicularis oculi muscle showed slightly redu...

journal_title：Journal of child neurology

authors： Hatanaka T,Yoshijima S,Hayashi N,Owa K,Suehiro Y,Shinomiya K

更新日期：1993-04-01 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：: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

authors： Khajeh L,Cherian PJ,Swarte RM,Smit LS,Lequin MH

更新日期：2014-07-01 00:00:00

abstract：AIM:We characterize the pediatric postural orthostatic tachycardia syndrome (POTS) population seen at a single tertiary care referral center. METHOD:Retrospective chart review of all pediatric POTS patients seen in our center between 2015 and 2017. Pediatric POTS was defined as chronic, at least 3 months, symptoms of ...

journal_title：Journal of child neurology

authors： Staples A,Thompson NR,Moodley M

更新日期：2020-07-01 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

authors： Merlini L,Granata C,Ballestrazzi A,Marini ML

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

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：: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：:Abnormal zinc metabolism in a 6-year-old male patient with Landau-Kleffner syndrome (acquired aphasia and convulsive disorder) is the subject of our report. We describe a significant decrease of erythrocyte and plasma zinc levels in the patient as compared with normal. Red blood cell zinc content is normally 38.5 +/- ...

journal_title：Journal of child neurology

authors： Lerman-Sagie T,Statter M,Lerman P

更新日期：1987-01-01 00:00:00

abstract：:We sent questionnaires concerning the current therapy for West syndrome to 208 institutions at which pediatric care members of the Japan Epilepsy Society were working. Of these, 129 (62%) institutions responded. Vitamin B6 was the preferred first-line drug, followed by the combination of vitamin B6 and valproate or mo...

journal_title：Journal of child neurology

authors： Ito M,Seki T,Takuma Y

更新日期：2000-06-01 00:00:00

abstract：:We retrospectively identified 15 children ages 12 years and under with anticonvulsant resistant epilepsy who underwent a temporal lobectomy at Children's Hospital, Boston, between 1978 and 1993. Our aim was to study the long-term seizure outcome. Data pertaining to preoperative evaluation, electroencephalography (EEG)...

journal_title：Journal of child neurology

authors： Sotero de Menezes MA,Connolly M,Bolanos A,Madsen J,Black PM,Riviello JJ Jr

更新日期：2001-08-01 00:00:00

abstract：:Facioscapulohumeral muscular dystrophy is one of the most prevalent muscular dystrophies in the world, resulting from the deletion of tandem repeats on chromosome 4q35. Extramuscular associations include sensorineural hearing loss, mental retardation, and epilepsy. These manifestations are commonly found in those with...

journal_title：Journal of child neurology

authors： Hobson-Webb LD,Caress JB

更新日期：2006-03-01 00:00:00

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

authors： Assouline S,Shevell MI,Zatorre RJ,Jones-Gotman M,Schloss MD,Oudjhane K

更新日期：1998-04-01 00:00:00

abstract：:Despite being a treatable and preventable zoonosis, brucellosis is still endemic in certain areas of the world. Nervous system involvement is a rare but an important complication of brucellosis in childhood. Neurobrucellosis should be taken into consideration in the differential diagnosis of any kind of neurological s...

journal_title：Journal of child neurology

authors： Yilmaz S,Serdaroglu G,Gokben S,Tekgul H

更新日期：2011-10-01 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

authors： Murakami K,Sugimoto T,Nishida N,Woo M,Araki A,Kobayashi Y

更新日期：1992-10-01 00:00:00

abstract：:This review summarizes what is known about the neurobiology of specific language impairment. Despite its name, specific language impairment is frequently not specific. It is common to find associated impairments in motor skills, cognitive function, attention, and reading in children who meet criteria for specific lang...

journal_title：Journal of child neurology

authors： Webster RI,Shevell MI

更新日期：2004-07-01 00:00:00

abstract：:Neuromotor function was assessed in 94 children of normal intelligence with Tourette syndrome, Tourette syndrome and attention-deficit hyperactivity disorder (ADHD), or ADHD only, using the Physical and Neurological Examination of Subtle Signs (PANESS). Time to complete six motor movements was analyzed separately by s...

journal_title：Journal of child neurology

authors： Schuerholz LJ,Cutting L,Mazzocco MM,Singer HS,Denckla MB

更新日期：1997-10-01 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：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

authors： Patel R,Gombolay GY,Peljovich AE,Conklin J,Blackwell LS,Howarth R,Wolf DS,Upadhyayula SR,Verma S

更新日期：2020-11-01 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

authors： Lerman-Sagie T,Leshinsky-Silver E,Watemberg N,Lev D

更新日期：2004-05-01 00:00:00

abstract：:Tuberous sclerosis complex is an autosomal dominant multisystem disorder. Spontaneous mutations occur in up to 60% of patients with gene loci located on chromosomes 9q34 (TSC1) and 16p13 (TSC2). Diagnosis is established with the identification of various neurocutaneous markers and multiple organ system hamartomas. The...

journal_title：Journal of child neurology

authors： DiMario FJ Jr

更新日期：2004-09-01 00:00:00

abstract：:As a community, physicians with expertise in child development and an appreciation of school-related challenges are uniquely positioned to enhance the well-being of children with specific learning disabilities. Efforts in such areas as differential diagnosis, enhancing communication between home and school and among p...

journal_title：Journal of child neurology

authors： Horowitz SH

更新日期：2004-10-01 00:00:00

abstract：:Four unrelated infants with neonatal thrombocytopenia associated with congenital blindness and porencephaly have been seen over an 18-year period. The association of congenital blindness with neonatal thrombocytopenia has not previously been reported. All children had clinical purpura in the neonatal period; in three ...

journal_title：Journal of child neurology

authors： Manson J,Speed I,Abbott K,Crompton J

更新日期：1988-04-01 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：:Acute focal neurologic deficits are a rare but known presentation of ornithine transcarbamylase deficiency, particularly in females. We describe here a 6-year-old girl with newly diagnosed ornithine transcarbamylase deficiency who presents with an episode of acute cortical blindness lasting for 72 hours in the absence...

journal_title：Journal of child neurology

authors： Prasun P,Altinok D,Misra VK

更新日期：2015-05-01 00:00:00

abstract：:Autism is characterized by social deficits, communication and language impairments, narrow restricted interests, repetitive behaviors, inattention, and hyperactivity. While selective serotonin reuptake inhibitors have demonstrated efficacy in treating core symptoms of autism, norepinephrine reuptake inhibitors have de...

journal_title：Journal of child neurology

authors： Hollander E,Kaplan A,Cartwright C,Reichman D

更新日期：2000-02-01 00:00:00

abstract：:Intracranial tumors are the most common solid tumors in children. The infratentorial compartment will be the primary site for 60% to 70% of these tumors, including astrocytomas, medulloblastomas, and ependymomas. Several technological advancements have increased our knowledge of the cell biology of pediatric brain tum...

journal_title：Journal of child neurology

authors： Nejat F,El Khashab M,Rutka JT

更新日期：2008-10-01 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

authors： Fox DJ,Kumar A,West NA,DiRienzo AG,James KA,Oleszek J,Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

更新日期：2015-01-01 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

authors： Sharma S,Gulati S,Kabra M,Kalra V,Vasisht S,Gupta YK

更新日期：2011-01-01 00:00:00

abstract：:Seven school-aged children treated for temporal lobe astrocytomas with surgical resection and irradiation were prospectively tested to evaluate their intellectual, academic, personality, and neurologic status after therapy. At their most recent follow-up examination, neuropsychologic functioning was adequate in only t...

journal_title：Journal of child neurology

authors： Mulhern RK,Kovnar EH,Kun LE,Crisco JJ,Williams JM

更新日期：1988-01-01 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

authors： Hsu J,Stec M,Ranaivo HR,Srdanovic N,Kurup SP

更新日期：2021-03-01 00:00:00