Neurobiology of specific language impairment.

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：:Hereditary sensory and autonomic neuropathies have different phenotypes. We report 2 cousins with differing clinical courses of a hereditary sensory and autonomic neuropathy. The progressive disease in case 1 is dominated by loss of sensation, autonomic crises, and pain. Case 2 shows loss of sensation, mental retardat...

journal_title：Journal of child neurology

authors： Koy A,Freynhagen R,Mayatepek E,Tibussek D

更新日期：2012-02-01 00:00:00

abstract：:The purpose of this survey and record review was to characterize emergency department management of unprovoked seizures and status epilepticus in children in Illinois. The survey was sent to 119 participating emergency departments in the Emergency Medical Services for Children program; responses were received from 103...

journal_title：Journal of child neurology

authors： Taylor C,Piantino J,Hageman J,Lyons E,Janies K,Leonard D,Kelley K,Fuchs S

更新日期：2015-10-01 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：:The first case of Chikungunya virus in Honduras was identified in 2014. The virus has spread widely across Honduras via the Aedes aegypti mosquito, leading to an outbreak of Chikungunya virus (CHIKV) in 2015 that significantly impacted children. A retrospective chart review of 235 children diagnosed with CHIKV and adm...

journal_title：Journal of child neurology

authors： Samra JA,Hagood NL,Summer A,Medina MT,Holden KR

更新日期：2017-07-01 00:00:00

abstract：:Vigabatrin is an antiepileptic drug that results in higher gamma-aminobutyrate levels in the brain and retina. Vigabatrin-induced visual field defects are usually asymptomatic and only detectable by perimetry. Further, perimetry requires good cooperation, and children aged under 10 years cannot do it. Electroretinogra...

journal_title：Journal of child neurology

authors： Bakhshandeh Bali MK,Otaghsara SM,Soltansanjari M,Sadighi N,Nasehi MM,Ashrafi MR,Karimzadeh P,Taghdiri MM,Ghofrani M

更新日期：2014-06-01 00:00:00

abstract：:Comprehensive Behavioral Intervention for Tics (CBIT) is an efficacious treatment with limited regional availability. As neurology and pediatric clinics are often the first point of therapeutic contact for individuals with tics, the present study assessed preliminary treatment response, acceptability, and feasibility ...

journal_title：Journal of child neurology

authors： Ricketts EJ,Gilbert DL,Zinner SH,Mink JW,Lipps TD,Wiegand GA,Vierhile AE,Ely LJ,Piacentini J,Walkup JT,Woods DW

更新日期：2016-03-01 00:00:00

abstract：:Acute necrotizing encephalopathy is characterized by fever, seizures, acute encephalopathy, and rapid progression to coma. It is usually associated with viral illness and shows characteristic brain magnetic resonance imaging features, including symmetrical involvement of bilateral thalami, brain stem, white matter, an...

journal_title：Journal of child neurology

authors： Lee JH,Lee M,Lee J

更新日期：2012-10-01 00:00:00

abstract：:Mercury poisoning is a rare but fatal toxicologic emergency. Neurologic manifestations involving the central nervous system are seen usually with chronic mercury intoxication. The most commonly seen complaints are headache, tremor, impaired cognitive skills, weakness, muscle atrophy, and paresthesia. Here, we present ...

journal_title：Journal of child neurology

authors： Gençpınar P,Büyüktahtakın B,İbişoğlu Z,Genç Ş,Yılmaz A,Mıhçı E

更新日期：2015-05-01 00:00:00

abstract：:Neuron-specific enolase, a marker for neuronal injury, is elevated following seizures in adults, but relatively few data exist on postictal neuron-specific enolase levels in children. This study measured cerebrospinal fluid (CSF) neuron-specific enolase levels after seizures in 49 consecutive pediatric patients and in...

journal_title：Journal of child neurology

authors： Wong M,Ess K,Landt M

更新日期：2002-04-01 00:00:00

abstract：:Respiratory syncytial virus is a common cause of acute respiratory infection in children. Previous reports have associated respiratory syncytial virus infection and acute neurologic symptoms, including apnea and seizures. This study examined the prevalence of acute neurologic symptoms associated with respiratory syncy...

journal_title：Journal of child neurology

authors： Kho N,Kerrigan JF,Tong T,Browne R,Knilans J

更新日期：2004-11-01 00:00:00

abstract：:Germinal matrix hemorrhage refers to bleeding that arises from the subependymal (or periventricular) germinal region of the immature brain. Clinical studies have shown that infants who experience germinal matrix hemorrhage can develop hydrocephalus or suffer from long-term neurologic dysfunction, including cerebral pa...

journal_title：Journal of child neurology

authors： Balasubramaniam J,Del Bigio MR

更新日期：2006-05-01 00:00:00

abstract：:In this report, we have summarized our 9-year experience of over 100 proven cases of lysosomal storage disease using electron microscopic evaluation of skin biopsies as a screening tool. The skin biopsy was very specific in establishing the diagnosis in only two disorders, namely neuronal ceroid lipofuscinosis and muc...

journal_title：Journal of child neurology

authors： Prasad A,Kaye EM,Alroy J

更新日期：1996-07-01 00:00:00

abstract：:The cerebellum undergoes a protracted development, making it particularly vulnerable to a broad spectrum of developmental events. Acquired destructive and hemorrhagic insults may also occur. The main steps of cerebellar development are reviewed. The normal imaging patterns of the cerebellum in prenatal ultrasound and ...

journal_title：Journal of child neurology

authors： Garel C,Fallet-Bianco C,Guibaud L

更新日期：2011-12-01 00:00:00

abstract：:A pseudotumoral presentation of acute hemicerebellitis is rare in pediatric age. The authors report a new single case study of a 7-year-old child with pseudotumoral unilateral cerebellitis mimicking an intracranial tumor, which clinically presented itself with signs of intracranial hypertension and mild contralateral ...

journal_title：Journal of child neurology

authors： Alberini E,Vellante V,Zennaro F,Calligaris L,Barbi E,Carrozzi M,Devescovi R

更新日期：2015-03-01 00:00:00

abstract：:This investigation correlated incidence and degree of autonomic dysfunction with the degree of motor impairment in children hospitalized with Guillain-Barré syndrome. Motor weakness varies, as does the effect on autonomic function including heart rate, vasomotor stability, sweating, continence, and blood pressure. Aft...

journal_title：Journal of child neurology

authors： Dimario FJ Jr,Edwards C

更新日期：2012-05-01 00:00:00

abstract：:This study assessed metabolic functioning of regional brain areas to address whether there is a neurometabolic profile reflecting the underlying neuropathology in individuals with autism spectrum disorders, and if varied profiles correlate with the clinical subtypes. Thirteen children (7-16 years) with autism spectrum...

journal_title：Journal of child neurology

authors： Gabis L,Wei Huang,Azizian A,DeVincent C,Tudorica A,Kesner-Baruch Y,Roche P,Pomeroy J

更新日期：2008-07-01 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：:We describe a case of pediatric Sjögren's syndrome with progressive neurologic involvement. At age 4 years, she had been diagnosed with Melkersson-Rosenthal syndrome. After being stable with facial diplegia and swelling for 5 years, she acutely presented with diplopia, vertigo, and ataxia. Cranial magnetic resonance i...

journal_title：Journal of child neurology

authors： Gottfried JA,Finkel TH,Hunter JV,Carpentieri DF,Finkel RS

更新日期：2001-09-01 00:00:00

abstract：:Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic growth of benign tumors and often accompanied by epilepsy, autism spectrum disorders, and intellectual disability. Nonetheless, the neurodevelopmental phenotype of these patients is not often detailed. The authors describe...

journal_title：Journal of child neurology

authors： Gipson TT,Poretti A,Thomas EA,Jenkins KT,Desai S,Johnston MV

更新日期：2015-12-01 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：:The purpose of this study was to assess the cognitive development of 27 children with nonhemorrhagic neonatal stroke (occurring within the first 28 days of life). The cognitive evaluation consisted of the Bayley Scales of Infant Development, administered at 12 and/or 24 months poststroke. Compared with the normative s...

journal_title：Journal of child neurology

authors： McLinden A,Baird AD,Westmacott R,Anderson PE,deVeber G

更新日期：2007-09-01 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：: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：:Generalized edema can occur during the course of juvenile dermatomyositis. In this article, a 4-year-old boy with generalized nonpitting edema and proximal weakness is reported. Characteristic cutaneous lesions, laboratory tests, results of electromyography, and magnetic resonance imaging findings resulted in a diagno...

journal_title：Journal of child neurology

authors： Saygi S,Alehan F,Baskin E,Bayrakci US,Ulu EM,Ozbek N

更新日期：2008-11-01 00:00:00

abstract：:A nondescribed behavioral disorder was observed during wake-sleep transitions in 2 young children. Two boys had episodes of abnormal behavior in hypnagogic-and occasionally hypnopompic-periods for 1 year from the time they were 1 year and several months old. The episodes consisted of irregular body movements, which co...

journal_title：Journal of child neurology

authors： Pareja JA,Cuadrado ML,García-Morales I,Gil-Nagel A,Franch O

更新日期：2008-08-01 00:00:00

abstract：:Clinical manifestations were retrospectively assessed in 5 families with tuberous sclerosis complex, including 1 pair of monozygotic twins. Interfamilial variation in tuber count was significantly larger than intrafamilial variation. Severity of epilepsy and cognitive profiles varied both between and within families, ...

journal_title：Journal of child neurology

authors： Lyczkowski DA,Conant KD,Pulsifer MB,Jarrett DY,Grant PE,Kwiatkowski DJ,Thiele EA

更新日期：2007-12-01 00:00:00

abstract：BACKGROUND:The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor decline. Atypical phenotypes exhibit variable time of onset, symptomatology, ...

journal_title：Journal of child neurology

authors： Wibbeler E,Wang R,Reyes EL,Specchio N,Gissen P,Guelbert N,Nickel M,Schwering C,Lehwald L,Trivisano M,Lee L,Amato G,Cohen-Pfeffer J,Shediac R,Leal-Pardinas F,Schulz A

更新日期：2020-12-23 00:00:00

abstract：:Growth failure is nearly universal in spinal muscular atrophy type 1 and common in type 2, although acuity is often underappreciated at initial diagnosis. We reviewed 44 consecutive spinal muscular atrophy patients (28 type 1, 16 type 2) under 3 years at initial presentation. Growth failure was conventionally defined:...

journal_title：Journal of child neurology

authors： Sproule DM,Hasnain R,Koenigsberger D,Montgomery M,De Vivo DC,Kaufmann P

更新日期：2012-07-01 00:00:00

abstract：:Acute vascular events are rare in the pediatric population, but there is an association with the presence of antiphospholipid antibodies. When there is no other underlying medical disorder, this is referred to as primary antiphospholipid syndrome. We present a case of a 15-year-old boy who developed an acute superior ...

journal_title：Journal of child neurology

authors： Saxonhouse MA,Bhatti MT,Driebe WT Jr,Freeman BE,Maria BL,Carney PR

更新日期：2002-05-01 00:00:00