History of Joubert syndrome and a 30-year follow-up of the original proband.

abstract：:Three normal children with headache occurring only with exertion were advised to try "head cooling" (eg, immersion of the head in cold water, cold water poured over the head, application of a cold, wet towel or ice pack) at the onset of headache. The patients were followed up quarterly as outpatients, and the effectiv...

journal_title：Journal of child neurology

authors： Singh RK,Martinez A,Baxter P

更新日期：2006-12-01 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：: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：:Many neurodegenerative diseases can be misdiagnosed as cerebral palsy. The correct diagnosis is reached when the condition recurs in families or when there are specific clinical signs. The clinical and imaging features of 3 children, from 2 unrelated families, presenting with global developmental delay and dystonia ar...

journal_title：Journal of child neurology

authors： Devadathan K,Sreedharan M,Sarasam S,Colah RB,Kunju PA

更新日期：2014-11-01 00:00:00

abstract：:We report 10 years' follow-up of the previously described family with a novel mutation of the KCNA1 gene. The family consisted of 3 affected boys (first seen at ages 3, 11, and 12) and their affected mother and asymptomatic father and sister. They clinically presented with diffuse myokymia, muscle cramps, and lower li...

journal_title：Journal of child neurology

authors： Moghimi N,Rosen JB,Jabbari B

更新日期：2013-11-01 00:00:00

abstract：:Extensive optic nerve demyelinating lesions on magnetic resonance imaging (MRI) in adults could indicate a diagnosis other than multiple sclerosis with worse prognosis such as neuromyelitis optica. We report the frequency of longitudinally extensive lesions in children with first events of optic neuritis. Subjects had...

journal_title：Journal of child neurology

authors： Graves J,Kraus V,Soares BP,Hess CP,Waubant E

更新日期：2015-01-01 00:00:00

abstract：:Tuberous sclerosis complex is a disease that affects many organs, including the central nervous system. Nervous system involvement in the form of hamartomas often results in seizures. In this study we wanted to determine the outcome of epilepsy in tuberous sclerosis complex and determine whether interictal electroence...

journal_title：Journal of child neurology

authors： Husain AM,Foley CM,Legido A,Chandler DA,Miles DK,Grover WD

更新日期：2000-02-01 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：:The influence of severity of closed head injury and age on attentional functioning was prospectively investigated in 36 children (age range, 7 to 16 years) 6 months after injury. Children were placed into mild, moderate, and severe injury groups using established neurologic criteria. Each child received the Wechsler I...

journal_title：Journal of child neurology

authors： Kaufmann PM,Fletcher JM,Levin HS,Miner ME,Ewing-Cobbs L

更新日期：1993-10-01 00:00:00

abstract：:This study was performed to determine the utility of 99mTc-hexamethylpropylenamine oxime (HMPAO) brain single photon emission computed tomography (SPECT) in evaluating patients with childhood absence epilepsy. Twenty-three patients (13 female, 10 male), aged 7 to 15 years (mean age 10.3 +/- 2.2), were studied. All pat...

journal_title：Journal of child neurology

authors： Kapucu LO,Serdaroğlu A,Okuyaz C,Köse G,Gücüyener K

更新日期：2003-08-01 00:00:00

abstract：:More than half of neonatal stroke survivors have long-term sequelae, including seizures and neurological deficits. Although the immature brain has tremendous potential for recovery, mechanisms governing repair are essentially unexplored. We investigated whether magnetic resonance imaging (MRI) early or late after tran...

journal_title：Journal of child neurology

authors： Dzietko M,Wendland M,Derugin N,Ferriero DM,Vexler ZS

更新日期：2011-09-01 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：: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：:Idiopathic dystonia with onset in the first year of life has been described as a transient movement disorder, in contrast to other forms of idiopathic dystonia We report on a girl who showed, from her 5th month, episodes of dystonic postures of her neck and arm, which lasted for seconds and occurred several times a da...

journal_title：Journal of child neurology

authors： John B,Klemm E,Haverkamp F

更新日期：2000-12-01 00:00:00

abstract：:Maternal intrauterine inflammation has been implicated in the development of periventricular leukomalacia and white matter injury in the neonate. We hypothesized that intrauterine endotoxin administration would lead to microstructural changes in the neonatal rabbit white matter in vivo that could be detected at birth ...

journal_title：Journal of child neurology

authors： Saadani-Makki F,Kannan S,Makki M,Muzik O,Janisse J,Romero R,Chugani D

更新日期：2009-09-01 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：:Gelastic seizures are characterized by inappropriate, stereotyped laughter and are often first recognized when other epileptic manifestations occur. They are frequently associated with hypothalamic hamartomas. Central nervous system developmental abnormalities are rarely reported with gelastic seizures. There is only ...

journal_title：Journal of child neurology

authors： Akman CI,Schubert R,Duran M,Loh J

更新日期：2002-02-01 00:00:00

abstract：:In this study we investigated centrally mediated parasympathetic regulation of modulated cardiac vagal tone among children with severe cyanotic and pallid breath-holding spells by examining respiratory sinus arrhythmia. Respiratory sinus arrhythmia was evaluated in 41 children; 17 subjects with cyanotic breath-holding...

journal_title：Journal of child neurology

authors： DiMario FJ Jr,Bauer L,Baxter D

更新日期：1998-09-01 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：: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：:The clinical label attention deficit hyperactivity disorder (ADHD) suggests that this syndrome is a disorder of attention. However, the presumed attentional deficits have not been linked either to specific cognitive operations or to specific neural systems. To provide this link, theories of the cognitive anatomy of at...

journal_title：Journal of child neurology

authors： Swanson JM,Posner M,Potkin S,Bonforte S,Youpa D,Fiore C,Cantwell D,Crinella F

更新日期：1991-01-01 00:00:00

abstract：:Glucose metabolism of children with drug-resistant epilepsy, controlled by antiepileptic drugs epilepsy, and first-time nonfebrile seizures was studied through the performance of an oral glucose tolerance test and through insulin, C-peptide, and glycosylated hemoglobin measurements. In the refractory epilepsy group, t...

journal_title：Journal of child neurology

authors： Varlamis S,Vavatsi N,Pavlou E,Kotsis V,Spilioti M,Kavga M,Varlamis G,Sotiriadou F,Agakidou E,Voutoufianakis S,Evangeliou AE

更新日期：2013-11-01 00:00:00

abstract：:If behavior results from brain function, some evidence of dysfunction could be expected in children with major behavioral problems. Yet, neurophysiologic studies in these children are frequently normal. We hypothesized a relationship between maturational asymmetry and behavior, given the role of hemispheric imbalance ...

journal_title：Journal of child neurology

authors： Gerez M,Tello A,Serrano C,Ibarra R,Mallet A

更新日期：1999-02-01 00:00:00

abstract：:Neonatal alloimmune thrombocytopenia results from platelet-antigen incompatibility between mother and fetus, leading to antibody-mediated destruction of fetal platelets. With a prevalence of 1 in 1000 births, approximately 4000 infants born in the United States each year develop neonatal alloimmune thrombocytopenia. T...

journal_title：Journal of child neurology

authors： Sharif U,Kuban K

更新日期：2001-11-01 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：:Cytomegalovirus lumbosacral polyradiculopathy is a well-documented complication of human immunodeficiency virus in adults who have a CD4 count of less than 40/microL. Patients present with an acute ascending flaccid paralysis of the lower limbs with areflexia, paresthesia, and urinary and bowel symptoms. However, it a...

journal_title：Journal of child neurology

authors： Sohal A,Riordan A,Mallewa M,Solomon T,Kneen R

更新日期：2009-02-01 00:00:00

abstract：AIMS:To conduct a review of the literature on the use of botulinum toxin for the treatment of pediatric chronic migraine. METHODS:A review of the literature was performed using EMBASE, PubMed, and Cochrane/Ovid. Using our inclusion and exclusion criteria, we targeted any study, published before April 2020, evaluating ...

journal_title：Journal of child neurology

authors： Marcelo R,Freund B

更新日期：2020-10-01 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：:Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also docume...

journal_title：Journal of child neurology

authors： Sarnat HB,Flores-Sarnat L,Wei XC

更新日期：2017-05-01 00:00:00

abstract：:This study was conducted to determine the occurrence, severity, and risk factors of gingival enlargement in children treated with valproate and other nonvalproate antiepileptic drugs. A cross-sectional study was carried out in which data obtained from 68 epileptic children under treatment were compared with those from...

journal_title：Journal of child neurology

authors： Tan H,Gürbüz T,Dağsuyu IM

更新日期：2004-12-01 00:00:00