Alexander Disease.

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 present 12 cases of males with myalgia and cramps and a normal muscle strength examination. All the patients had muscle dystrophin values consistent with Becker muscular dystrophy. Five of the patients had a normal electromyogram, and five had normal light microscopic muscle biopsy results. Of particular note, four...

journal_title：Journal of child neurology

authors： Samaha FJ,Quinlan JG

更新日期：1996-01-01 00:00:00

abstract：:Idiopathic photosensitive occipital lobe epilepsy is a reflex, age- and localization-related syndrome. We describe the clinical and electroencephalographic features, therapy, and outcome of 16 children/adolescents with this syndrome. The cohort included 2 sets of siblings and 7 patients with other first- or second-deg...

journal_title：Journal of child neurology

authors： Politi-Elishkevich K,Kivity S,Shuper A,Levine H,Goldberg-Stern H

更新日期：2014-03-01 00:00:00

abstract：:There are limited data on the pattern and prevalence of pediatric chronic neurologic conditions in the region. Therefore, the objective of this study was to establish the prevalence of these disorders in the Kingdom of Saudi Arabia. A multistage probability sampling design was used to select a random sample of Saudi h...

journal_title：Journal of child neurology

authors： Al Salloum AA,El Mouzan MI,Al Omar AA,Al Herbish AS,Qurashi MM

更新日期：2011-01-01 00:00:00

abstract：:The purpose of this study was to determine the etiologic factors, clinical characteristics, seasonal distributions, family history, response to corticosteroid therapy, recurrence and residual paralysis rates, and factors affecting these in pediatric facial palsy. Patients aged <18 years diagnosed with acute peripheral...

journal_title：Journal of child neurology

authors： Hanci F,Türay S,Bayraktar Z,Kabakuş N

更新日期：2019-12-01 00:00:00

abstract：:In general, people with learning disabilities are a heterogeneous population that require a multidisciplinary evaluation and careful, well-planned intervention. Despite this heterogeneity, patterns of problems often co-occur. Therefore, diagnosticians and educators should look beyond single areas of achievement such a...

journal_title：Journal of child neurology

authors： Johnson DJ

更新日期：1995-01-01 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：:Gelastic seizure is a rare symptom often associated with hypothalamic hamartoma. We present here a 4-year-old girl with gelastic epilepsy caused by hypothalamic hamartoma and report the magnetic resonance spectrometry and electroencephalographic (EEG) findings. At the age of 2 1/2 years, she developed brief, repetitiv...

journal_title：Journal of child neurology

authors： Wakai S,Nikaido K,Nihira H,Kawamoto Y,Hayasaka H

更新日期：2002-01-01 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

authors： Koul R,Chacko A,Joshi S,Sankhla D

更新日期：2001-10-01 00:00:00

abstract：:A 15-month-old girl demonstrated progressive weakness in all limbs. Magnetic resonance imaging (MRI) on admission revealed (1) diffuse and symmetric cervical cord swelling, (2) diffuse decrease and increase in signal intensity within the affected cord on T1- and T2-weighted images, respectively, (3) preserved anatomic...

journal_title：Journal of child neurology

authors： Yamamoto K,Nakagawa H,Kato S,Abe J,Inoue S,Shibuya H

更新日期：1992-04-01 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：:To find out why children born extremely preterm are at heightened risk of executive dysfunctions, the authors assessed 716 children who were 10 years old born extremely preterm whose IQ was ≥ 70. A working memory dysfunction (n = 169), an inhibition dysfunction (n = 360), a switching dysfunction (355), and all 3 (exec...

journal_title：Journal of child neurology

authors： Leviton A,Joseph RM,Allred EN,O'Shea TM,Taylor HG,Kuban KKC

更新日期：2018-03-01 00:00:00

abstract：:The authors describe a pediatric patient with repaired hypoplastic left heart syndrome developing protein-losing enteropathy, hypocalcemia, vitamin D deficiency, and hemichorea. After correction of nutritional vitamin D deficiency with calcium and vitamin D supplementation, the chorea resolved. Hypoalbuminemia also im...

journal_title：Journal of child neurology

authors： Fernandez R,Ashraf A,Dure LS

更新日期：2007-01-01 00:00:00

abstract：:Pediatric headache patients often experience significant sleep disturbance, which may be a risk factor for poor physical, academic, and emotional functioning, including increased anxiety/fear. The current retrospective cohort study of a clinical sample of youth with persistent headache aimed to examine the impact of s...

journal_title：Journal of child neurology

authors： Clementi MA,Chang YH,Gambhir R,Lebel A,Logan DE

更新日期：2020-03-01 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：:Autosomal recessive spinal muscular atrophy is caused by mutations in the survival motoneuron (SMN) gene. There are two nearly identical copies of this gene present on chromosome 5q13; however, only the telomeric copy of this gene is affected in spinal muscular atrophy. In this study, we describe a new method to detec...

journal_title：Journal of child neurology

authors： Mazzei R,Conforti FL,Muglia M,Sprovieri T,Patitucci A,Magariello A,Gabriele AL,Quattrone A

更新日期：2003-04-01 00:00:00

abstract：:Multiple sclerosis onset in youth is increasingly recognized. A systematic review was conducted to assess incidence and prevalence of pediatric-onset multiple sclerosis, focusing on occurrence by age subgroups and disease course. A literature search for the period 1965-2018 was carried out, selecting population-based ...

journal_title：Journal of child neurology

authors： Jeong A,Oleske DM,Holman J

更新日期：2019-10-01 00:00:00

abstract：:Acute transverse myelitis is a clinical syndrome affecting the spinal cord, which is characterized by acute onset of motor, sensory, and autonomic dysfunction. Approximately 20% of cases of acute transverse myelitis occur in children. This review summarizes the current published literature on acute transverse myelitis...

journal_title：Journal of child neurology

authors： Wolf VL,Lupo PJ,Lotze TE

更新日期：2012-11-01 00:00:00

abstract：:Recent technological advances in gene sequencing have led to a rapid increase in gene discovery in epilepsy. However, the ability to assess pathogenicity of variants, provide functional analysis, and develop targeted therapies has not kept pace with rapid advances in sequencing technology. Thus, although clinical gene...

journal_title：Journal of child neurology

authors： Smith LA,Ullmann JF,Olson HE,Achkar CM,Truglio G,Kelly M,Rosen-Sheidley B,Poduri A

更新日期：2017-03-01 00:00:00

abstract：:On April 19, 1995, Oklahoma City (and the United States) lost its innocence. Almost all Oklahomans can relate exactly what they were doing either at 9:02 AM that day or when they first learned of the bombing. Of course, the whole world watched the events unfold through around-the-clock television coverage. One of the ...

journal_title：Journal of child neurology

authors： Spengler C

更新日期：1995-09-01 00:00:00

abstract：:Mutations in the STE20-related kinase adaptor α ( STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and craniofacial dysmorphisms. To date, there have been 17 reported individuals diagnosed with STRADA mutations, ...

journal_title：Journal of child neurology

authors： Nelson K,Jackman C,Bell J,Shih CS,Payne K,Dlouhy S,Walsh L

更新日期：2018-12-01 00:00:00

abstract：:Ischemic strokes in children and young adults are fortunately rare. Contrasted with adult ischemic strokes, pediatric stroke etiologies vary greatly and are often unknown. Childhood lacunar strokes and trauma-induced strokes represent particularly uncommon subsets and have been reported infrequently in the literature....

journal_title：Journal of child neurology

authors： Zwank MD,Dummer BW,Danielson LT,Haake BC

更新日期：2014-09-01 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：:A 2-year-old boy with an initial diagnosis of Hunter syndrome (mucopolysaccharidosis II) had a more severe phenotype than expected, which warranted further evaluation. The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, c...

journal_title：Journal of child neurology

authors： Burruss DM,Wood TC,Espinoza L,Dwivedi A,Holden KR

更新日期：2012-06-01 00:00:00

abstract：:To determine the yield of neuroimaging in children presenting to the emergency department with acute ataxia in the post-varicella vaccine era, we conducted a cross-sectional study between 1995 and 2013 at a single pediatric tertiary care center. We included children aged 1-18 years evaluated for acute ataxia of <7 day...

journal_title：Journal of child neurology

authors： Rudloe T,Prabhu SP,Gorman MP,Nigrovic LE,Harper MB,Landschaft A,Kimia AA

更新日期：2015-09-01 00:00:00

abstract：:Multiple etiologies should be considered in the differential diagnosis of immunocompromised patients with non-central nervous system cancer and viral infections who develop mutism. Acute cerebellitis, caused by infections or by neurotoxicity resulting from chemotherapy; paraneoplastic cerebellar degeneration; atypical...

journal_title：Journal of child neurology

authors： Helton K,Patterson AL,Khan RB,Sadighi ZS

更新日期：2017-08-01 00:00:00

abstract：:Corpus callosotomy is a palliative procedure performed to reduce the severity of drug-resistant epilepsy. The authors assessed its efficacy on different seizure types in 20 subjects (age range 5-19 years); 8 with active vagus nerve stimulator. Fifteen had complete callosotomy, 3 had anterior 2/3, and 2 had anterior 2/...

journal_title：Journal of child neurology

authors： Luat AF,Asano E,Kumar A,Chugani HT,Sood S

更新日期：2017-06-01 00:00:00

abstract：:The purpose of this study was to assess sleep, daytime sleepiness, and behavior problems in children suffering from headaches and in controls, with a special focus on the role of gender. A clinical group of 28 children with persistent headache complaints and a control group of 108 healthy children were included. Sleep...

journal_title：Journal of child neurology

authors： Bursztein C,Steinberg T,Sadeh A

更新日期：2006-12-01 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：AIM:The present study aimed to investigate whether the response variability of infants to modified constraint-induced movement therapy and bimanual therapy are associated with different types of brain lesions. METHOD:Infants with unilateral cerebral palsy (N = 22) ages 8-15 months (mean = 10.95, standard deviation = 2...

journal_title：Journal of child neurology

authors： Chamudot R,Parush S,Rigbi A,Gross-Tsur V

更新日期：2018-12-01 00:00:00