bluuebunny/crossref_metadata_2025 huggingface dataset:
Prediction of Outcome at School Age in Neonatal Intensive Care Unit Graduates Using Neonatal Neurologic Tools
Authors: Majnemer Annette , Rosenblatt Bernard
Published: January 2008

Prediction of outcome for neonatal intensive care unit graduates is clinically useful to counsel families effectively and target those who may benefit from early interventions. Evoked potentials have proven prognostic value of neurologic outcomes in early childhood; however, their long-term predictive validity remains to be determined. The objective of this prospective study was to determine the long-term predictive value of three neonatal neurologic assessments: brainstem auditory evoked potentials, somatosensory evoked potentials, and the Einstein Neonatal Neurobehavioral Assessment Scale. Seventy-eight high-risk newborns and 28 healthy controls were recruited and were assessed in the newborn period using these tests. At 8 to 9 years of age, 42 subjects and 13 controls were re-evaluated for developmental progress using a range of psychologic, sensorimotor, and neurologic measures. Findings indicated that the somatosensory evoked potential was most accurate at predicting outcome at school age, with high specificity (83-100%) across all domains tested and good sensitivity (80-100%) for intellectual performance and sensorimotor abilities. The brainstem auditory evoked potential was limited by false-negatives, whereas the neonatal neurobehavioral assessment yielded many false-positives. This study provides new evidence that associations between neonatal somatosensory evoked potentials and developmental sequelae continue to be significant at school age. (J Child Neurol 2000;15:645-651).
Psychological Functioning in Children and Adolescents With Sturge-Weber Syndrome
Authors: Chapieski Lynn , Friedman Ann , Lachar David
Published: January 2008

Previous studies of individuals with Sturge-Weber syndrome have focused on the medical aspects of this syndrome, but little has been known about the affective and behavioral correlates. We collected psychological and medical data from parents and teachers for 79 children and adolescents with Sturge-Weber syndrome and a group of their siblings. We also obtained the results of intellectual assessment for a subset of the Sturge-Weber syndrome group. The young people with Sturge-Weber syndrome exhibited more problems than the group of siblings across a number of behavioral domains: intellectual/academic, social skills, mood, and compliance. Those children most at risk for psychological problems were those with lower levels of intellectual functioning, those with seizure disorders, and those with more frequent seizures. Larger port-wine stains were also associated with an increase in mood and social problems but only for older children. Increased age was not associated with lower levels of intellectual or academic functioning, but mood and social problems were more common in older children. (J Child Neurol 2000;15:660-665).
Molecular Genetic Classification of Central Nervous System Malformations
Authors: Sarnat Harvey B.
Published: January 2008

Traditional schemes of classifying nervous system malformations are based on descriptive morphogenesis of anatomic processes of ontogenesis, such as neurulation, neuroblast migration, and axonal pathfinding. This proposal is a first attempt to incorporate the recent molecular genetic data that explain programming of development etiologically. A scheme based purely on genetic mutations would not be practical, in part because only in a few dysgeneses are the specific defects known, but also because several genes might be involved sequentially and many genes inhibit or augment the expression of others. The same genes serve different functions at different stages and are involved in multiple organ systems. Some complex malformations, such as holoprosencephaly, result from several unrelated defective genes. Finally, a pure genetic classification would be too inflexible to incorporate some anatomic criteria. The basis for the proposed scheme is, therefore, disturbances in patterns of genetic expression; polarity gradients of the axes of the neural tube (eg, upregulation or downregulation of genetic influences); segmentation (eg, deletions of specific neuromeres, ectopic expression); mutations that cause change in cell lineage (eg, dysplastic gangliocytoma of cerebellum, myofiber differentiation within brain); and specific genes or molecules that mediate neuroblast migration in its early (eg, filamin-1 ) , middle (eg, LIS1, doublecortin), or late course (eg, reelin, L1-CAM) . The proposed scheme undoubtedly will undergo many future revisions, but it provides a starting point using currently available data. (J Child Neurol 2000;15:675-687).
Siblings With Cystic Leukoencephalopathy and Megalencephaly
Authors: Yalçinkaya Cengiz , Çomu Sinan , Koçer Naci , Yüksel Adnan , Gündüz Erem , Demirbilek Veysi , Ocal Ayla
Published: January 2008

Cystic leukoencephalopathy with megalencephaly is a newly described entity with mild clinical involvement. Patients suffer from developmental problems and seizures in childhood. Progression is gradual into adulthood. Typical magnetic resonance imaging findings include subcortical cysts and diffuse leukoencephalopathy. The etiology is unknown with possibly autosomal-recessive inheritance. We present two pairs of siblings with this disease and emphasize the characteristic and variable patterns even within the same family. (J Child Neurol 2000;15:690-693).
Asperger's Syndrome, X-Linked Mental Retardation (MRX23), and Chronic Vocal Tic Disorder
Authors: Searcy Eileen , Burd Larry , Kerbeshian Jacob , Stenehjem Amy , Franceschini Lisa A.
Published: January 2008

Pervasive developmental disorders are severe disorders of development with no consistent neurobiologic etiology and most often an idiopathic etiology. We report a 12-year-old male who met criteria for a pervasive developmental disorder (Asperger's syndrome) and a chronic tic disorder. The child also has an X-linked cognitive impairment (MRX23). The presence of tic symptomatology, pervasive developmental disorder, and fragile X syndrome has previously been reported. Since no singular etiology for Asperger's syndrome has been found, the possibility of other cases of Asperger's syndrome occurring with concurrent abnormalities on the X chromosome should be considered by clinicians, especially if tic symptomatology is present. (J Child Neurol 2000; 15:699-702).
Liposteroid Therapy for Refractory Seizures in Children
Authors: Yoshikawa Hideto , Yamazaki Sawako , Abe Tokinari , Oda Yoshihiko
Published: January 2008

Liposteroid is dexamethasone palmitate incorporated into liposomes and was developed as an anti-inflammatory drug for targeting therapy mainly for rheumatoid arthritis. Recently, it was reported that liposteroid might be effective for the treatment of West syndrome, with fewer side effects than those of corticotropin therapy. We describe three patients, a 2-month-old boy with early infantile epileptic encephalopathy, a 4-month-old girl with symptomatic West syndrome, and a 2-year-old girl with symptomatic localization-related epilepsy, whose refractory seizures were treated with liposteroid according to the original method reported by Yamamoto and colleagues in 1998. Uncontrollable seizures ceased completely in two patients and the seizure frequency decreased markedly in the other patient. Electroencephalograms revealed marked improvement in all patients. They showed no relapse of the seizures, and all showed no adverse effects except for mild brain shrinkage in one patient. Our experience with these three patients suggests that liposteroid therapy might be a new option for the treatment of refractory seizures in children, as well as for West syndrome. (J Child Neurol 2000;15:702-704).
Topical Review: Outcome Measures in Pediatric Neurology: Why Do We Need Them?
Authors: Ronen Gabriel M. , Rosenbaum Peter , Streiner David L.
Published: January 2008

Outcome measures should include the patient's values and preferences (from the patient's perspective) in addition to performance ratings and physiologic states. Outcome measures can assess relationships between services and interventions and their end results, can clarify which therapies are worth providing and which therapies need more evidence about their effectiveness, and can measure the burdens of different disorders and interventions. Researchers recently have shown the feasibility of creating and using outcome measures for children with neurodevelopmental disorders. Clinicians may wish to familiarize themselves with the concepts of outcome measures and health-related quality of life in order to understand the rationale, utility, properties, and various types of outcome measures in order to select the most appropriate instruments that will best serve their patient populations. Ongoing research efforts are currently using such measures in children with central nervous system tumors, with neural tube defects, and of extremely low birthweight; in childhood and adolescent epilepsy; and in adolescents with headaches. (J Child Neurol 2000;15:775-780).
Six-Year Follow-Up of Children With Intrauterine Growth Retardation: Long-Term, Prospective Study
Authors: Leitner Yael , Fattal-Valevski Aviva , Geva Ronny , Bassan Haim , Posner Edith , Kutai Miriam , Many Ariel , Jaffa Ariel J. , Harel Shaul
Published: January 2008

This prospective study was designed to characterize the neurodevelopmental and cognitive difficulties specific to children with intrauterine growth retardation and to detect early clinical predictors of these difficulties. Eighty-one children with intrauterine growth retardation were monitored up to 6 to 7 years of age using biometric parameters, perinatal risk questionnaires, and detailed neurodevelopmental and cognitive assessments. Forty-one children served as age-matched, appropriate for gestational age controls. A significant difference in growth parameters (P < .001), neurodevelopmental score (P < .05), and IQ (P < .05) was found between the children with intrauterine growth retardation and controls. A specific profile of difficulties in coordination, lateralization, spatial and graphomotor skills, and abundance of associated movements is typical of the children with intrauterine growth retardation and hints at possible later learning disabilities. The clinical parameters best predicting neurodevelopmental outcome were the neonatal risk score (P < .05) and the weight and height at 6 years of age (P < .05). The children with intrauterine growth retardation with neonatal complications had lower neurodevelopmental scores than the controls but no difference in IQ. Intrauterine growth retardation children diagnosed prenatally had the same neurodevelopmental and IQ scores as those diagnosed at birth, probably due to the careful perinatal and obstetric care provided. Children with intrauterine growth retardation demonstrate a specific profile of neurodevelopmental disabilities at preschool age. Early diagnosis and intervention could probably reduce these difficulties to a minimum. (J Child Neurol 2000;15:781-786).
Persistent Preceding Focal Neurologic Deficits in Children With Chronic Epstein-Barr Virus Encephalitis
Authors: Caruso June M. , Tung Glenn A. , Gascon Generoso G. , Rogg Jeffrey , Davis Lawrence , Brown William D.
Published: January 2008

Epstein-Barr virus encephalitis is a self-limiting disease with few sequelae. Persistence of neurologic deficits prior to and after the acute illness has yet to be described in children. We describe five children with persistent cognitive and focal neurologic deficits due to chronic Epstein-Barr virus encephalitis with various T 2-weighted magnetic resonance imaging abnormalities. Clinical features were a 9-year-old boy with aphasia and apraxia, an 11-year-old girl with impulsivity and inappropriate behavior, a 17-year-old boy with deterioration of cognitive skills and judgment, a 5-year-old boy with complex-partial seizures, and a 6-year-old girl with obsessive-compulsive behavior. All patients had elevated serum Epstein-Barr virus titers for acute infection, with cerebrospinal fluid polymerase chain reaction positive for Epstein-Barr virus in four patients. Three children were treated with methylprednisolone with minimal improvement without changes on magnetic resonance imaging. Epstein-Barr virus encephalitis can present with chronic and insidious neurologic symptoms and should be considered in the differential diagnosis of children with acute or chronic neurologic illness of unknown etiology. (J Child Neurol 2000;15:791-796).
Insulin-Like Growth Factor-I in Cerebrospinal Fluid and Serum in Rett Syndrome
Authors: Vanhala Raija , Turpeinen Ursula , Riikonen Raili
Published: January 2008

Rett syndrome is a neurodevelopmental disease characterized by failure of somatic and brain growth. The insulin-like growth factor system mediates most actions of growth hormone. Evidence that it plays an important role in early development of the brain is increasing. The aim of the study reported was to assess the role of the insulin-like growth factor system in the pathogenesis of Rett syndrome. We measured insulin-like growth factor-I levels in serum (8 patients, mean age 9.1 years) and cerebrospinal fluid (13 patients, mean age 7 years) using a sensitive radioimmunoassay method and compared them with those in age-matched controls (13 and 26 patients, respectively). Neither serum nor cerebrospinal fluid insulin-like growth factor-I levels differed from those in controls. We also measured insulin-like growth factor binding protein-3 levels in serum (in 9 patients and 8 controls) and in cerebrospinal fluid (in 12 patients and 11 controls) and serum growth hormone levels (in 8 patients and 11 controls); the levels in patients did not differ from those in controls. We found no significant correlation between serum and cerebrospinal fluid insulin-like growth factor-I in Rett syndrome. This may indicate an independent role of insulin-like growth factor system in the central nervous system, making serum insulin-like growth factor-I measurement unreliable as an indicator of disturbed function in the central nervous system. Our results did not support the notion that a defective insulin-like growth factor-I system explains the lack of somatic and brain growth in Rett syndrome. (J Child Neurol 2000;15:797-802).
Neurologic Symptoms in Children With Systemic Lupus Erythematosus
Authors: Quintero-Del-Rio Ana I. , Miller Van
Published: January 2008

Neurologic complications of systemic lupus cerebritis are not as well known in children as in adults. Twenty-five children with neurologic complications were identified after reviewing the hospital medical records of 86 children with systemic lupus erythematosus. Seven children (28%) had neurologic symptoms at the time of initial diagnosis of systemic lupus erythematosus ; median time between diagnosis of systemic lupus erythematosus and onset of neurologic complications was 1 month (range 0-5 years). Seizures were the most common neurologic symptoms overall, but headaches were the most frequent neurologic manifestation in children without a previous diagnosis of systemic lupus erythematosus. Sixteen children had seizures, and 12 children had seizures as the initial central nervous system involvement. Almost all children who developed seizures had an established diagnosis of systemic lupus erythematosus; only one child had seizures that led to the diagnosis of systemic lupus erythematosus. No patient had status epilepticus, and, in general, seizures were not difficult to control. In six children, headache was the initial symptom of central nervous system involvement. Five children had lupus cerebritis, three children had stroke, and two had isolated cranial neuropathies. Chorea was seen in only two cases, and three children had pseudotumor cerebri. Treatment with high-dose intravenous methylprednisolone led to a good response in 18 children; cyclophosphamide was required in 6 patients and plasmapheresis in 1 child. Outcome was generally good, although one child developed fulminant cerebritis with intracranial hypertension and died. (J Child Neurol 2000;15:803-807).
Asymmetric Crying Facies and Associated Congenital Anomalies: Prospective Study and Review of the Literature
Authors: Lahat Eli , Heyman Eli , Barkay Adaya , Goldberg Michael
Published: January 2008

Congenital asymmetric crying facies, a minor congenital anomaly due to absence or hypoplasia of the depressor anguli oris muscle on one side of the mouth, is associated at times with major congenital anomalies, most commonly in the cardiovascular system. In a prospective study of 5532 infants born at the Assaf Harofeh Medical Center, Israel, during 12 months (January to December 1998), 17 infants (an incidence of 0.31%) had asymmetric crying facies. One of the affected infants had ventricular septal defect and another infant had VATER (vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia) syndrome. No noxious obstetric perinatal factors could be identified. Family history was unremarkable in all cases. Diagnostic work-up performed in all of the affected infants failed to reveal an additional congenital malformation. Asymmetric crying facies is a minor isolated finding in most of the cases; however, a thorough search for other congenital malformations, especially of the cardiovascular system, should be performed. (J Child Neurol 2000;15:808-810).
Febrile Convulsions After 5 Years of Age: Long-Term Follow-Up
Authors: Verrotti Alberto , Giuva Tiziana , Cutarella Rocco , Morgese Guido , Chiarelli Francesco
Published: January 2008

In order to examine the natural history of febrile convulsions occurring after 5 years of age, we studied 44 children in whom febrile convulsions persisted after 5 years of age (group 1) and compared their development of unprovoked seizures with a group of 195 children in whom febrile convulsions occurred before 5 years of age (group 2). All subjects of group 1 were re-evaluated at the mean age of 13.4 ± 1.7 years. The children in group 2 were followed up until they reached the same mean age as children in group 1 (13.1 ± 2.3 years). In group 1, we found a higher percentage of unprovoked seizures than in children with febrile convulsions with onset before 5 years of age (18.1% vs 7.4%, P < .05). Our data suggest that children with febrile convulsions after 5 years of age probably must be considered as a group of patients at risk of developing unprovoked seizures. (J Child Neurol 2000;15:811-813).
Hypotension Following the Initiation of Tizanidine in a Patient Treated With an Angiotensin Converting Enzyme Inhibitor for Chronic Hypertension
Authors: Johnson Tiffanie R. , Tobias Joseph D.
Published: January 2008

Centrally acting alpha-2 adrenergic agonists are one of several pharmacologic agents used in the treatment of spasticity related to disorders of the central nervous system. In addition to their effects on spasticity, certain adverse cardiorespiratory effects have been reported. Adults chronically treated with angiotensin converting enzyme inhibitors may have a limited ability to respond to hypotension when the sympathetic response is simultaneously blocked. The authors present a 10-year-old boy chronically treated with lisinopril, an angiotensin converting enzyme inhibitor, to control hypertension who developed hypotension following the addition of tizanidine, an alpha-2 agonist, for the treatment of spasticity. The possible interaction of tizanidine and other antihypertensive agents should be kept in mind when prescribing therapy to treat either hypertension or spasticity in such patients. (J Child Neurol 2000;15:818-819).
Intravenous Valproate Dosing in Neonates
Authors: Alfonso Israel , Alvarez Luis A. , Gilman Jamie , Dunoyer Catalina , Yelin Karina , Papazian Oscar
Published: January 2008

The loading dosage of intravenous valproate required to achieve a desired serum concentration in neonates is not known. Two neonates with seizures received loading doses of intravenous valproate over 30 minutes. Serum valproate concentrations were measured 45 minutes and 3 hours after initiation of the infusion. Both neonates had received phenobarbital and phenytoin before the loading infusions. In the first patient, a loading dose of intravenous valproate of 10 mg/kg increased the 45-minute postinfusion serum valproate concentration to 41 μg/mL with a 3-hour postinfusion serum valproate concentration of 33 μg/mL. In the second patient, a loading dose of 25 mg/kg increased the 45-minute postinfusion serum valproic acid concentration to 100 μg/mL with a 3-hour postinfusion serum valproic acid concentration of 78 μg/mL. We found that each 1 mg/kg of intravenous valproate increased the 45-minute and 3-hour postinfusion serum valproic acid concentrations by approximately 4 μg/mL and 3 μg/mL, respectively. We suggest that these figures be used to calculate the desirable loading dose of intravenous valproate in neonates until larger studies are conducted. The volume of distribution and the serum clearance of valproate were approximately 0.245 L/kg and 25 mL/h/kg, respectively. (J Child Neurol 2000;15:827-829).
Fatal Infantile X-Linked Neuropathy
Authors: Sekul Elizabeth , Carroll James E. , Yaghmai Farivar , Armstrong Dawna L. , Seltzer William K.
Published: January 2008

We report a pedigree with severe X-linked neuropathy that occurs in male infants and results in death, typically by 2 years of age. The proband of our report was weak with preserved mentation. He underwent extensive evaluation, which revealed abnormal nerve conduction studies, neurogenic changes on muscle biopsy, a decreased number of large myelinated fibers and rare onion bulb formations on nerve biopsy, negative gene testing for spinal muscular atrophy, CMT1a, and CMTX1 and a normal brain magnetic resonance image. The proband's mother, an obligate carrier, had normal nerve conduction studies. Male infants with a spinal muscular atrophy phenotype but normal genetic studies should be evaluated for this fatal X-linked neuropathy. (J Child Neurol 2000; 15:829-830).
Mitochondrial DNA Point Mutation T9176C in Leigh Syndrome
Authors: Wilson Callum J. , Wood Nicholas W. , Leonard James V. , Surtees Robert
Published: January 2008

Leigh syndrome is a progressive neurodegenerative disease frequently associated with mitochondrial abnormalities. The mitochondrial DNA T9176C mutation in the adenosine triphosphatase 6 gene has recently been described as a cause of Leigh syndrome. Leukocyte DNA from 59 children with Leigh syndrome was screened for the T9176C mutation by conventional polymerase chain reaction methods. Two unrelated patients were found to be homoplasmic for this mutation in blood. Both patients had similar clinical and biochemical features. They had first presented acutely at 3 and 5 years, respectively, with ataxia and slurred speech. Magnetic resonance imaging changes were consistent with Leigh syndrome, and the cerebrospinal fluid lactate was elevated. They have both had relatively stable disease since the time of diagnosis. The mother of one of the children had presented at age 29 years with sudden onset of ataxia, headache, and blurred vision. She was heteroplasmic for the T9176C mutation. The T1976C is an important cause of Leigh syndrome especially in the subgroup of patients with more stable disease and normal respiratory chain enzyme analysis. (J Child Neurol 2000; 15:830-833).
Nasal Midazolam Effects on Childhood Acute Seizures
Authors: Fişgin Tune , Gürer Yavuz , Şenbil Nesrin , Teziç Tahsin , Zorlu Pelin , Okuyaz Çetin , Akgün Deniz
Published: January 2008

Sixteen children, aged from 2 months to 14 years, with a diagnosis of acute seizures and seen at Dr. Sami Ulus Child Health and Disease Center, were included in this study. Midazolam (5 mg/mL) 0.2 mg/kg was administered intranasally in 30 seconds by an injector. The heart rate, respiratory rate, blood pressure, and oxygen saturation were recorded at 0, 5, and 10 minutes after administration. The seizures of three (18.7%) patients terminated within 1 minute, of seven (43.7%) patients in 1 to 2 minutes, and of three (18.7%) patients in 2 to 5 minutes. However, three (18.7%) patients did not respond to treatment. As a result, it was concluded that intranasal midazolam administration is easy and effective. The half-life of midazolam is shorter than diazepam, and midazolam has fewer complications when compared with diazepam. It is easier to use in nasal drop and spray forms. (J Child Neurol 2000;15:833-835).
Vigilance Scoring in Children With Acquired Brain Injury: Vienna Vigilance Score in Comparison With Usual Coma Scales
Authors: Berger Ernst , Vavrik Klaus , Hochgatterer Paulus
Published: January 2008

An instrument in neurologic rehabilitation for the assessment of a person's clarity of consciousness must fulfill the need to provide the rehabilitation team with some information regarding the structuring of the rehabilitation process. The Vienna Vigilance Score is oriented toward cooperation within the rehabilitation team with the specific advantage of focus on the subject status of the patient on the basis of the dialogue. It does not use painful stimuli and is oriented toward the next developmental step of the rehabilitation process. The first extensive application of the Vienna Vigilance Score was carried out in a 3-year study of 38 children and adolescents. We report the comparison with other coma scales (Glasgow Coma Scale, Children's Coma Score, and Modified Glasgow Coma Scale) on 24 children and adolescents (1.4-16.8 years of age). The results showed satisfying statistical parameters: measuring range comparable with other scales; a Kendall tau correlation of .59 on both the Modified Glasgow Coma Scale and the Children's Coma Scale and of .66 on the Glasgow Coma Scale; a Spearman's rank order correlation of .70 to both the Modified Glasgow Coma Scale and the Children's Coma Scale and of .78 on the Glasgow Coma Scale. By accepting the Glasgow Coma Scale as a gold standard for classification of the level of coma, we can confirm satisfactory measuring qualities for the Vienna Vigilance Score. (J Child Neurol 2001;16:236-240).
Brain Plasticity for Sensory and Linguistic Functions: A Functional Imaging Study Using Magnetoencephalography With Children and Young Adults
Authors: Papanicolaou Andrew C. , Simos Panagiotis G. , Breier Joshua I. , Wheless James W. , Mancias Pedro , Baumgartner James E. , Maggio William W. , Gormley William , Constantinou Jules E.C. , Butler Ian I.
Published: January 2008

In this report, the newest of the functional imaging methods, magnetoencephalography, is described, and its use in addressing the issue of brain reorganization for basic sensory and linguistic functions is documented in a series of 10 children and young adults. These patients presented with a wide variety of conditions, ranging from tumors and focal epilepsy to reading disability. In all cases, clear evidence of reorganization of the brain mechanisms of either somatosensory or linguistic functions or both was obtained, demonstrating the utility of magnetoencephalography in studying, completely noninvasively, the issue of plasticity in the developing brain. ( J Child Neurol 2001;16:241-252).
Functional Magnetic Resonance Imaging in Children With Asperger's Syndrome
Authors: Oktem Ferhunde , Diren Bariş , Karaagaoglu Ergun , Anlar Banu
Published: January 2008

Asperger's syndrome is a pervasive developmental disorder of unknown etiology. We evaluated children with this syndrome (n = 9) and control (n = 8) children by functional magnetic resonance imaging (MRI) during a task involving social judgment. All control and 5 of 9 subjects with Asperger's syndrome showed signal intensity changes in frontal regions. Four patients with Asperger's syndrome, including one case with right frontal dysplasia, had no signal intensity change during the task. In this first functional MRI study of childhood Asperger's syndrome, frontal activation patterns demonstrated some differences between patients and normal subjects. Further studies using other functions frequently impaired in Asperger's syndrome are warranted. ( J Child Neurol 2001;16:253-256).
Comparative Utility of Technetium-99m Hexamethylpropylenamine Oxime Single Photon Emission Computed Tomography (SPECT) With Anatomic Neuroimaging and Electroencephalography (EEG) in Childhood Intractable Epilepsy
Authors: Kalra Veena , Gulati Sheffali , Singh Rana Kamer , Sekhar Bal Chandra , Bhatia Manvir
Published: January 2008

Intractable epilepsies pose a therapeutic challenge. Precise localization of the epileptic focus is imperative before planning surgical intervention. Functional imaging is an important component of presurgical work-up. Positron emission tomography is unavailable in developing countries; hence, the need to evaluate the available imaging modality, single photon emission computed tomography (SPECT), was felt. We investigated 61 children with intractable epilepsy, identified by predefined criteria, by performing electroencephalography (EEG), magnetic resonance imaging (MRI), computed tomography (CT), and ictal and interictal SPECT. The localizing value of ictal and interictal SPECT imaging for epileptic foci was correlated with clinical, electrophysiologic, and anatomic neuroimaging data. An ictal SPECT was obtained in 9, and interictal SPECT was performed in all (61). Ictal SPECT was localizing in 8 of 9 (88.8%). Interictal SPECT was localizing in a significantly higher proportion of patients (47.54%) than either the scalp EEG (16.39%) ( P = .0003) or CT scan (21.56%) ( P = .0046). Our data demonstrated that interictal and ictal SPECT identified more focal changes in children with intractable epilepsy than interictal EEG, CT, and probably MRI. The definitive proof of the SPECT-based findings being epileptogenic foci awaits correlation with intraoperative monitoring and postoperative follow-up. ( J Child Neurol 2001;16:257-263).
Molecular Genetic Study of a Childhood Form of Spinal Muscular Atrophy
Authors: Wong Virginia , Chan Vivian
Published: January 2008

Molecular genetic studies were performed in 28 cases of childhood-onset spinal muscular atrophy (24 unrelated families). This consisted of type 1 (severe) (n = 5), type 2 (intermediate form) (n = 8), and type 3 (mild) (n = 15). Deletion of exons 7 and 8 of the SMNt gene was found in 100%, 100%, and 93%, respectively, in type 1, 2, and 3 spinal muscular atrophy. Deletion of exons 5 and 6 of the NAIP gene was found in 3 of 5 (60%) of type 1 and none of the type 2 and 3 cases. None of the 32 asymptomatic relatives had homozygous deletions in the SMNt and NAIP genes. Thus, the role of the NAIP gene needs to be specifically defined in spinal muscular atrophy. In a suspected case of spinal muscular atrophy, deletion of the SMNt gene is a useful laboratory marker for confirmation of the diagnosis. ( J Child Neurol 2001;16:291-294).
Plasminogen Activator Inhibitor-1 4G/5G Polymorphism in Turkish Children With Cerebral Infarct and Effect on Factor V 1691 A Mutation
Authors: Akar Nejat , Akar Ece , Yilmaz Erkan , Deda Giilhis
Published: January 2008

The thrombotic risk of carrying plasminogen activator inhibitor-1-675 4G allele was found to be controversial in previous studies. The aim of this study was to evaluate the possible effect of plasminogen activator inhibitor-1 4G/5G polymorphism in the pathogenesis of childhood stroke. The case-control study included 43 patients with cerebral infarct who were below the age of 18 years (range, 10 months to 18 years) and 113 healthy unrelated individuals without family histories of thrombosis. Plasminogen activator inhibitor-1 4G/5G polymorphism was analyzed according to a previously described method. There was no statistically significant difference in patient and control groups for the distribution of plasminogen activator inhibitor-1 4G/5G polymorphism ( P = .75) (allele frequency 4G controls: 0.50; patients: 0.53). However, there was a significant difference for the factor V (FV) 1691 A mutation for both groups ( P = .0007). ( J Child Neurol 2001;16:294-295).
Randomized Treatment Study of Inosiplex Versus Combined Inosiplex and Intraventricular Interferon-α in Subacute Sclerosing Panencephalitis (SSPE): International Multicenter Study
Authors: Gascon Generoso G.
Published: January 2008

The efficacy of oral inosiplex alone (group A) versus combined treatment of inosiplex (Isoprinosine) and intraventricular interferon-α2b (Intron A) (group B) in patients with subacute sclerosing panencephalitis (SSPE) was compared. One hundred and twenty-one patients who met the diagnostic criteria for subacute sclerosing panencephalitis and presented at stage 2 or less were randomized into group A or B. Data were analyzable on 67 patients who met the inclusion criteria and adhered to the protocol. The inosiplex dosage was 100 mg/kg/day to a maximum of 3 g/day, taken orally in three divided doses for 6 months. Interferon-α2b started with 100,000 U/m2 and escalated to 1,000,000 U/m2 over 5 inpatient days and then 1,000,000 U/m2 twice a week for 6 months. Neurologic status was rated by the Neurological Disability Index, Brief Assessment Examination, and stages. Kaplan-Meier survival rates were not statistically significant between group A and group B (log-rank test X2 = .1374, P = .7109). In longitudinal morbidity analyses, regression results were fitted to three outcome measures: the Neurological Disability Index, the Brief Assessment Examination, and stage. Group medians of the estimated regression slopes were then compared using the Wilcoxon rank-sum test. There was no statistically significant difference between the two groups on any of these three measures. Morbidity comparisons of clinical classification of outcomes (improvement, stabilization, worsening after treatment stopped, deterioration) also showed no statistically signficant difference between groups. There were no statistically significant differences between the two treatment groups on any efficacy measure. However, the observed rates of satisfactory outcome (stabilization, improvement) of 34% in group A and 35% in group B were higher than the spontaneous remission rates of 5 to 10% reported in the literature, suggesting that treatment was superior to no treatment. ( J Child Neurol 2003;18:819-827).
Class III β-Tubulin Isotype: A Key Cytoskeletal Protein at the Crossroads of Developmental Neurobiology and Tumor Neuropathology
Authors: Katsetos Christos D. , Legido Agustin , Perentes Elias , Mörk Sverre J.
Published: January 2008

The expression of the cytoskeletal protein class III β-tubulin isotype is reviewed in the context of human central nervous system development and neoplasia. Compared to systemic organs and tissues, class III β-tubulin is abundant in the brain, where it is prominently expressed during fetal and postnatal development. As exemplified in cerebellar neurogenesis, the distribution of class III β-tubulin is neuron associated, exhibiting different temporospatial gradients in the neuronal progeny of the external granule layer versus the neuroepithelial germinal matrix of the velum medullare. However, transient expression of this protein is also present in the telencephalic subventricular zones comprising putative neuronal and/or glial precursor cells. This temporospatially restricted, potentially non-neuronal expression of class III β-tubulin may have implications in the accurate identification of presumptive neurons derived from transplanted embryonic stem cells. In the adult central nervous system, the distribution of class III β-tubulin is almost exclusively neuron specific. Altered patterns of expression are noted in brain tumors. In "embryonal"-type neuronal/neuroblastic tumors of the central nervous system, such as the medulloblastomas, class III β-tubulin expression is associated with neuronal differentiation and decreased cell proliferation. In contrast, the expression of class III β-tubulin in gliomas is associated with an ascending grade of histologic malignancy and with correspondingly high proliferative indices. Thus, class III β-tubulin expression in neuronal or neuroblastic tumors is differentiation dependent, whereas in glial tumors, it is aberrant and/or represents "dedifferentiation" associated with the acquisition of glial progenitor-like phenotype(s). From a diagnostic perspective, the detection of class III β-tubulin immunostaining in neoplastic cells should not be construed as categorical evidence of divergent neuronal differentiation in tumors, which are otherwise phenotypically glial. Because class III β-tubulin is present in neoplastic but not in normal differentiated glial cells, the elucidation of molecular mechanisms responsible for the altered expression of this isotype may provide critical insights into the dynamics of the microtubule cytoskeleton in the growth and progression of gliomas. ( J Child Neurol 2003;18:851-866).
Muscle Glycogen Depletion and Increased Oxidative Phosphorylation Following Status Epilepticus
Authors: Michelson-Kerman Marina , Watemberg Nathan , Nissenkorn Andreea , Gilad Eli , Sadeh Menachem , Lerman-Sagie Tally
Published: January 2008

We describe complete glycogen depletion and increased respiratory chain enzyme activity in a muscle biopsy obtained prior to the demise of a patient in multiorgan failure following status epilepticus. These findings validate the theoretical basis of muscle energy turnover during status epilepticus: the increased demand for energy leads to complete depletion of glycogen reserves. The attempt to preserve adenosine triphosphate requirements results in increased activity of respiratory chain enzymes. ( J Child Neurol 2003;18: 876-877).
Surgical Management of Pediatric Tumor-Associated Epilepsy
Authors: Khajavi Kaveh , Comair Youssef G. , Wyllie Elaine , Palmer Joann , Morris Harold H. , Hahn Joseph F.
Published: January 2008

Brain tumors are a common cause of seizures in children. Early surgical treatment can improve seizure outcome, but controversy exists regarding the most appropriate type of surgical intervention. Some studies suggest tumor resection alone is sufficient, while others recommend mapping and resection of the surrounding epileptogenic foci to optimize seizure outcome. To address this issue, we reviewed the charts of 34 pediatric patients aged 18 months to 20 years with medically intractable epilepsy and primary brain tumors. The average age at operation was 12.6 years, and patients had seizures for an average of 6.4 years. The majority of tumors were located in the temporal lobe. Seventeen patients, because of tumor location near an eloquent area, underwent extraoperative mapping using subdural electrode grids prior to definitive tumor resection. Fourteen of these patients had a gross total tumor resection, yet only two had a distinct zone of ictal onset identified and resected. The remaining 17 patients had tumors either in the nondominant hemisphere or far removed from speech-sensitive areas, and therefore did not undergo extraoperative subdural electroencephalograph mapping. Fourteen of these patients also had a gross total tumor resection, while none had intraoperative electrocorticography to guide the resection of additional nontumoral tissue. Overall, of the 28 patients treated with a gross total tumor resection, 24 (86%) are seizure free, while the other four are significantly improved. Of the six patients who had a subtotal tumor removal, five have persistent seizures. The mean follow-up was 3.6 years. We conclude that in children and adolescents, completeness of tumor resection is the most important factor in determining seizure outcome. The routine mapping and resection of epileptogenic foci might not be necessary in the majority of patients. As a corollary, the use of subdural electrode grids in pediatric patients with tumor-associated epilepsy should be limited to cases requiring extraoperative cortical stimulation for localization of nearby eloquent cortex. ( J Child Neurol 1999;14:15-25).
Ion Channels and the Genetic Contribution to Epilepsy
Authors: Ryan Stephen G.
Published: January 2008

Recent application of genetic analysis to rare, hereditary epilepsies has resulted in the identification of mutations in genes encoding ion channels or functionally related proteins in several human and animal syndromes. Reviewed here are selected human and murine epilepsies that result from ion channel mutations. In humans, three autosomal-dominant disorders— benign familial neonatal convulsions, nocturnal frontal lobe epilepsy, and "generalized epilepsy with febrile seizures plus"—result from mutations affecting voltage-sensitive potassium channels, a central nicotinic acetylcholine receptor, and a voltage-sensitive sodium channel, respectively. In mice, four genetically distinct, autosomal-recessive models of absence epilepsy are caused by mutations in genes encoding three types of calcium channel subunits and a sodium-hydrogen ion exchanger. These findings suggest that variation in genes encoding ion channels could determine susceptibility to common human epilepsies. ( J Child Neurol 1999;14:58-66).
Pediatric Eighth Cranial Nerve Schwannoma Without Evidence of Neurofibromatosis
Authors: Mendel Richard C. , Brumback Roger A. , Leech Richard W. , Van Campen Luann E. , Wilson Don A. , Hill Britton B. , Carter L. Philip
Published: January 2008

Schwannomas of the eighth cranial nerve are rare in children. We report a 410/12-year-old girl with no evidence of neurofibromatosis who presented with facial droop. Radiographic studies revealed a large cerebellopontine angle tumor. At surgery, the tumor was attached to the eighth cranial nerve and histologically was a schwannoma. This is the youngest reported case of unilateral eighth cranial nerve schwannoma in a patient without the stigmata of neurofibromatosis. ( J Child Neurol 1999;14:67-69).
Asymmetries in Brain Maturation and Behavioral Disturbances: Multivariate Electroencephalogram and P300 Studies
Authors: Gerez Montserrat , Tello Armando , Serrano Carlos , Ibarra Rocio , Mallet Alejandro
Published: January 2008

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 in adult psychopathology. The purpose of this study was to investigate whether age-sensitive neurophysiologic measures could identify behaviorally relevant maturational asymmetries in otherwise healthy children. Ninety-five children were studied; reasons for testing were behavioral (19), academic (12), medical nonneurologic (16), and mixed (28), along with 20 control subjects. Academic, behavioral (Child Behavioral Checklist), and psychometric (Wechsler Intelligence Scale for Children-Revised; WISC-R) measures were analyzed in relation to four neurophysiologic parameters: P300 Latency, P300 Latency Asymmetry, Maturational Z-score, and Maturational Z-score Asymmetry, within a canonical design. The highest correlation was behavior with Maturational Z-score Asymmetry. Academic scores were predicted by the three-variable interaction of P300 Latency,Maturational Z-score, and Maturational Z-score Asymmetry. We concluded that behavior was strongly influenced by maturational asymmetry, while academic performance depended on both global maturation and maturational asymmetry. Our results suggest that behavioral disturbances can have a neural substrate despite apparently normal electroencephalograms (EEGs) and event-related potentials (ERPs). They open the possibility for specific therapeutic interventions to improve behavior and performance, and, perhaps, prevent major psychopathology in later life. (J Child Neurol 1999;14:88-97).
Gender Differences in the Human Cerebral Cortex: More Neurons in Males; More Processes in Females
Authors: Rabinowicz Theodore , Dean Dorothy E. , McDonald-Comber Petetot Jean , de Courten-Myers Gabrielle M.
Published: January 2008

This study's objective was to investigate morphometric gender differences of the cerebral cortex in six males and five females, 12 to 24 years old. Though human brains lack sexual dimorphism on routine neuropathologic examinations, gender-specific brain weight, functional, and morphologic differences exist, suggesting that cortical differences may be found. Yet the cerebral cortex may be exempt from gender differences, as demonstrated by the fact that normal males and females perform comparably on intelligence tests. Stereologic morphometry on standardized histologic sections from 30 bilateral cortical loci determined cortical thickness, neuronal density, and derived neuronal number estimates. The mean ± SD cortical thickness of the 60 loci examined was similar in males and females with right and left hemispheric gender ratios being balanced. In contrast, the average neuronal density of the same 60 loci was significantly higher in the male group than in the female group, and the corresponding mean male-to-female ratios were 1.18 in the right and 1.13 in the left hemisphere, which differ significantly from each other and from the balanced cortical thickness ratios. Estimates of neuronal numbers — the product of neuronal thickness times density — were 13% higher in males than in females, with mean male-to-female ratios of 1.13 in both hemispheres. The data provide morphologic evidence of considerable cerebral cortical dimorphism with the demonstration of significantly higher neuronal densities and neuronal number estimates in males, though with similar mean cortical thickness, implying a reciprocal increase in neuropil/neuronal processes in the female cortex. (J Child Neurol 1999; 14:98-107).
Partial Seizures With Focal Epileptogenic Electroencephalographic Patterns in Three Related Female Patients With Fragile-X Syndrome
Authors: Singh Rita , Sutherland Grant R. , Manson James
Published: January 2008

Epilepsy and abnormal electroencephalographic (EEG) patterns have been reported in mentally retarded males with fragile-X syndrome, but the high incidence of epilepsy in such persons has been recognized only recently. These individuals have focal spikes in the EEG similar to the benign rolandic pattern. Female carriers have very rarely been reported to have epilepsy or nonspecific abnormal EEG patterns. We report partial seizures with a focal epileptogenic EEG pattern in two sisters and their grandmother, who are all carriers of fragile-X syndrome. The sisters have mild developmental delay, but the grandmother is of normal intelligence. The mother of the two sisters is known to be a carrier of the fragile-X chromosome and is of normal intelligence, with no history of seizures. It is important for physicians to be aware of the possibility that females presenting with partial seizures of unknown cause may be fragile-X carriers, and enquiry for a family history of intellectual disability should be pursued. (J Child Neurol 1999;14:108-112).