bluuebunny/crossref_metadata_2025 huggingface dataset:
From the Field: Cognitive Profiles of First Nations and Caucasian Children Referred for Psychoeducational Assessment
Authors: Dolan Brien
Published: June 2007

The WISC-III results of 45 Caucasian and 45 First Nations children who had been referred for a psychoeducational assessment were examined. The sample was matched for both gender and school of origin in an attempt to detect possible discrepancies based on race or gender of the students or the attitudes of those making the referral. Noticeable differences were found in the results between Caucasian males and females and between Caucasians and First Nation pupils. Explanations for the findings are discussed along with suggestions for further research.
Diagnostic Difficulty in Infants and Children
Authors: Nordli Douglas R.
Published: June 2007

Making an accurate diagnosis is the first and most critical step in the treatment of pediatric epilepsy, but it can be a daunting challenge for clinicians. Seizure types and syndromes in infants and very young children do not present with the same clarity and consistency as in adults. Work is currently being done to revise traditional International League Against Epilepsy classifications to make it easier for physicians to accurately diagnose and effectively treat epilepsy in infants and young children. A simplified approach can be formed by combining some of the International League Against Epilepsy recommendations with new findings on the clinical manifestations of pediatric seizures. Refinements in the new system will occur as knowledge of the pathophysiology of epilepsy and genetic susceptibilities expands, but even in its early stages the new classification system has much to offer, resulting in improved patient care and more effective management of the disease. (J Child Neurol 2002;17:S28—S35).
Pediatric Partial and Generalized Seizures
Authors: Bebin Martina
Published: June 2007

Eight new anticonvulsant medications have been approved in the United States since 1993, offering physicians a greater range of options for treating children with partial and generalized seizures. However, pediatric neurologists have been faced with limited pediatric pharmacokinetic and pharmacodynamic information. This article reviews the newer antiepilepsy drugs—gabapentin, felbamate, lamotrigine, topiramate, oxcarbazepine, levetiracetam, and zonisamide—and summarizes what is currently known about the safety and efficacy of these drugs in treating partial and generalized seizures in the pediatric population. Further studies are needed, however, to thoroughly evaluate their efficacy and safety in children. (J Child Neurol 2002;17:S65—S69).
Progressive Myoclonic Epilepsies
Authors: Conry Joan A.
Published: June 2007

The progressive myoclonic epilepsies are a rare but extremely debilitating group of disorders that are difficult to diagnose and even harder to treat. They represent a heterogeneous subgroup of those with secondary generalized epilepsy. Efficacy of treatment is often measured in terms of slowing a patient's inevitable decline. Reviewed here are the classification of progressive myoclonic epilepsies, features of myoclonic seizures, the five most prevalent progressive myoclonic epilepsy syndromes—Unverricht-Lundborg disease, myoclonus epilepsy with ragged red fibers (MERRF) mitochondrial disease, Lafora's disease, neuronal ceroid lipofuscinoses, and sialidoses—and current treatment options. (J Child Neurol 2002;17: S80—S84).
Adolescent Issues in Epilepsy
Authors: Sheth Raj D.
Published: June 2007

Approximately one third of new cases of epilepsy have their onset before age 20 years. Many children will enter adolescence with epilepsy or have an onset of seizures during adolescence. Adolescence is a time of dramatic change in growth, hormonal, psychologic, and social situations. Seizure frequency, teenage pregnancy, driving, and alcohol and drug use often become major issues during the adolescent years. Furthermore, adolescents often have difficulty accepting the chronicity of epilepsy and complying with medications, which can result in physical injury and perceived or real obstacles to employment, thereby contributing to low morale. Both pediatricians and neurologists should be aware of adolescent issues in epilepsy. (J Child Neurol 2002;17:2S23—2S27).
Differential Cognitive Effects of Antiepileptic Drugs
Authors: Bourgeois Blaise F.D.
Published: June 2007

As a group, children and adolescents with epilepsy have a higher prevalence of cognitive and behavioral disorders, although many fall within the normal distribution. For those affected, several causes have been identified, some of which may be interrelated. It has proven to be methodologically sound to isolate the role of specific antiepileptic drugs as a cause of cognitive impairment. The large body of literature that has accumulated on this topic is characterized by a relatively high proportion of inconclusive or contradictory observations. This may be due in part to the many methodological pitfalls in this area of research. The emerging picture is that cognitive effects caused by antiepileptic drugs are neither the rule nor the exception. Although certain drugs appear more likely to be involved, no single drug causes problems in every patient, and no drug can be assumed never to cause any cognitive impairment. The subgroup of patients that are at higher risk cannot be easily defined. Early detection of cognitive effects is based on actively eliciting reports of symptoms. This can be complemented by a screening battery in case of suspicion. (J Child Neurol 2002;17:2S28—2S33).
Encephalofacial Angiomatosis Sparing the Occipital Lobe and Without Facial Nevus: On the Spectrum of Sturge-Weber Syndrome Variants?
Authors: Comi Anne M. , Fischer Richard , Kossoff Eric H.
Published: June 2007

We report two cases of leptomeningeal angiomatosis in atypical frontoparietotemporal locations without an associated facial port-wine stain. Evidence of a leptomeningeal angioma was found in each when they were evaluated for headaches and seizures. The diagnosis of a leptomeningeal angioma was suggested by calcifications noted on computed tomographic scan of the head and confirmed with contrast-enhanced magnetic resonance images of the brain. We hypothesize that given the lack of occipital involvement with the angioma, and therefore the noncontiguous nature of this lesion with the developing upper facial ectoderm, the failure to develop a facial angioma would be expected. We found that the use of an anticonvulsant along with a migraine prophylactic medication appeared to have the greatest efficacy in these two cases, whereas anticonvulsants alone were less helpful. This dianosis should be considered in any child presenting with seizures or complicated migraines and intracranial calcifications. ( J Child Neurol 2003; 18: 35—38).
Functional Assessment Following Intrathecal Baclofen Therapy in Children With Spastic Cerebral Palsy
Authors: Awaad Yasser , Tayem Hassan , Munoz Sharon , Ham Steven , Michon Anne Marie , Awaad Rania
Published: June 2007

The purpose of this article is to describe outcomes of intrathecal baclofen therapy for 29 patients with cerebral palsy, focusing on impairments, functional limitations, and disability. Patients received individualized rehabilitation and were followed up to 24 months. The primary outcome measures were the Ashworth Scale and the functional skills and caregiver assistance scales of the Pediatric Evaluation of Disability Inventory (PEDI). Ashworth Scale scores were significantly reduced ( P .0005). All areas of functional skills and caregiver assistance improved. Comparing groups of adults and patients less than 18 years, there were no significant differences, but there was a relationship between age and dose. Comparing groups of patients in high and low levels of independent functional mobility, no significant differences were found. These results provide suggestive evidence that the combination of intrathecal baclofen therapy and rehabilitation has positive effects across the dimensions of disablement. This study serves as a basis for high-level scientific studies of these effects. ( J Child Neurol 2003; 18: 26—34).
Favorable Outcome of Epileptic Blindness in Children
Authors: Shahar Eli , Barak Shai
Published: June 2007

Acute blindness is a rare presentation of epileptic seizures, referring to loss of sight without loss of consciousness associated with electroencephalographic (EEG) epileptic discharges, mainly representing an ictal phase but also either pre-or postictal. We report a series of 14 children with documented epileptic blindness, describing the accompanying fits and thereafter the response to therapy to resolve the blindness and control associated seizures. All patients experienced episodes of acute complete visual obscuration lasting for 1 to 10 minutes. Seven patients had accompanying generalized seizures, with a photosensitive response recorded in three of them. All of these seven children were treated with valproic acid, regaining full vision, and six of them became seizure free. Three patients with acute blindness who had accompanying focal motor seizures and unilateral temporooccipital posterior epileptic discharges were treated with carbamazepine regained full vision and complete seizure control. Four additional children had the constellation of migrainous headaches, focal motor phenomena, and complete blindness, along with occipital discharges compatible with Gastaut syndrome, benign childhood epilepsy with occipital paroxysms. All four patients were started on carbamazepine and became asymptomatic. Our overall experience suggests that epileptic blindness in children is associated with a favorable outcome when promptly diagnosed and treated appropriately, resulting in complete resolution of blindness in all children and satisfactory control of seizures in most of them. We therefore recommend performing a prompt EEG in any child presenting with acute visual obscuration, even in the absence of other epileptic phenomena. ( J Child Neurol 2003; 18: 12—16).
Schilder's Disease: Case Study With Serial Neuroimaging
Authors: Kurul Semra , Çakmakçi Handan , Dirik Eray , Kovanlikaya Arzu
Published: June 2007

Schilder's myelinoclastic diffuse sclerosis is a rare sporadic demyelinating disease that usually affects children between 5 and 14 years old. The disease often mimics intracranial neoplasm or abscess. We report a 9-year-old girl with Schilder's disease who presented with left hemiparesis. Cranial computed tomography and magnetic resonance imaging (MRI) showed large lesions in the subcortical white matter of the occipital and parietal lobes of both hemispheres that were indistinguishable from an abscess. A cerebrospinal fluid oligoclonal band test was found positive. A diagnosis of acute disseminated encephalomyelitis was then suspected. Serial MRI examinations revealed regression of parenchymal lesions, but there were new developing corpus callosum lesions. After 2 months, the patient presented with right-sided visual loss. MRI examination revealed a right optic nerve lesion. The patient had a dramatic clinical response to corticosteroid therapy. Subsequent control MRI examination revealed regression of both lesions. At 24 months of observation, the patient continued to do well without any complaints or neurologic sequelae. ( J Child Neurol 2003; 18: 58—61).
Ketogenic Diet in Rett Syndrome
Authors: Liebhaber Gisela Maria , Riemann Edith , Matthias Baumeister Friedrich Albert
Published: June 2007

Treatment of Rett syndrome with the ketogenic diet has been reported only once and showed positive effects on seizure frequency and behavior. We report a patient with Rett syndrome who was treated with the ketogenic diet for 4 years. The diet was initiated at the age of 8 years owing to the patient's refractory epilepsy and led to a 70% reduction in seizures. Treatment with the ketogenic diet was also associated with improvements in contact and behavior. Diagnosis of Rett syndrome was confirmed by molecular detection of the Ser134Cys mutation in the MECP2 gene, which has previously been described only in classic Rett syndrome. This observation demonstrates that the ketogenic diet has a positive effect on Rett syndrome. ( J Child Neurol 2003;18:74—75).
Application of a Ketogenic Diet in Children With Autistic Behavior: Pilot Study
Authors: Evangeliou Athanasios , Vlachonikolis Ioannis , Mihailidou Helen , Spilioti Martha , Skarpalezou Astrinia , Makaronas Nikolaos , Prokopiou Ahilleas , Christodoulou Panagiotis , Liapi-Adamidou Georgia , Helidonis Emmanouel , Sbyrakis Stylianos , Smeitink Jan
Published: June 2007

A pilot prospective follow-up study of the role of the ketogenic diet was carried out on 30 children, aged between 4 and 10 years, with autistic behavior. The diet was applied for 6 months, with continuous administration for 4 weeks, interrupted by 2-week diet-free intervals. Seven patients could not tolerate the diet, whereas five other patients adhered to the diet for 1 to 2 months and then discontinued it. Of the remaining group who adhered to the diet, 18 of 30 children (60%), improvement was recorded in several parameters and in accordance with the Childhood Autism Rating Scale. Significant improvement (> 12 units of the Childhood Autism Rating Scale) was recorded in two patients (pre-Scale: 35.00 ± 1.41 [mean ± SD]), average improvement (> 8—12 units) in eight patients (pre-Scale: 41.88 ± 3.14[mean ± SD]), and minor improvement (2—8 units) in eight patients (pre-Scale: 45.25 ± 2.76 [mean ± SD]). Although these data are very preliminary, there is some evidence that the ketogenic diet may be used in autistic behavior as an additional or alternative therapy. ( J Child Neurol 2003; 18: 113—118).
Use of Methylphenidate for Attention-Deficit Hyperactivity Disorder in Patients With Epilepsy or Electroencephalographic Abnormalities
Authors: Gucuyener Kivilcim , Erdemoglu A. Kemal , Senol Selahattin , Serdaroglu Ayşe , Soysal Sebnem , Kockar Ilden
Published: June 2007

Methylphenidate is commonly believed to lower seizure threshold. The safe use of methylphenidate has not been clarified in patients with attention-deficit hyperactivity disorder (ADHD) and concomitant active seizure or electroencephalographic (EEG) abnormalities. Patients with ADHD and active seizures ( n = 57) and patients with ADHD and EEG abnormalities ( n = 62), 6 to 16 years of age, were included in the study. The safety and efficacy of treatment with antiepilepsy drugs combined with methylphenidate were determined by assessing seizure frequency, changes in ADHD symptoms, the Conners' Rating Scales, EEG differences, and side effects. The Conners' Rating Scales, performed by parents and teachers, and mean total ADHD symptom scores at the beginning of the study and at the end were significantly different ( P = .05 for the Conners' Rating Scales and P = .001 for ADHD symptom scores). Methylphenidate had a beneficial effect on EEG. Seizure frequency did not change from baseline. The side effects of methylphenidate were mild and transient. Methylphenidate is safe and effective in children with ADHD and concomitant active seizures or EEG abnormalities. ( J Child Neurol 2003;18:109—112).
Vitamin K Deficiency in Severely Disabled Children
Authors: Yoshikawa Hideto , Yamazaki Sawako , Watanabe Toru , Abe Tokinari
Published: June 2007

Vitamin K status was examined in 21 severely disabled children in our hospital from September 2001 to August 2002, and 9 children were found to have a vitamin K deficiency. The 21 patients were divided into two groups: group A, 9 patients with vitamin K deficiency, and group B, 12 patients without vitamin K deficiency. The laboratory data and background factors in the two groups were compared statistically. In group A, all patients received enteral nutrition and anticonvulsants. The protein induced by vitamin K absence-II values were elevated in eight patients. Seven exhibited a bleeding tendency. Six developed vitamin K deficiency in association with infection and four were treated with antibiotics. All showed a good response to the administration of vitamin K. The patients in group A had factors such as use of antibiotics, infection, and elemental nutrition at significantly higher rates than those in group B. Data indicating nutrition factors such as body weight, caloric intake, total protein level, and hemoglobin level were not significantly different between the two groups. Severely disabled children suffer from deficiencies of various nutritional elements. However, vitamin K deficiency in severely disabled children has not been fully investigated. Infection, use of antibiotics, and elemental nutrition are risk factors for vitamin K deficiency in severely disabled children. In severely disabled children, there might be marginal vitamin K intake via enteral nutrition, so more vitamin K supplementation is necessary, especially with infection and use of antibiotics. ( J Child Neurol 2003; 18: 93—97).
Epilepsy in Children With Cerebral Palsy
Authors: Singhi Pratibha , Jagirdar Sujeet , Khandelwal Narendra , Malhi Prahbhjot
Published: June 2007

To study the spectrum of epilepsy in children with cerebral palsy, 105 consecutive children with cerebral palsy and active epilepsy, between 1 and 14 years of age, were studied prospectively. A detailed history and examination, electroencephalography (EEG), and computed tomography (CT) were done in all cases. The social quotient was assessed using the Vineland Social Maturity Scale. A retrospective cohort of 452 cases of cerebral palsy was studied to find the prevalence of epilepsy in cerebral palsy. A control group of 60 age-matched children with cerebral palsy but no epilepsy was also studied for comparison of the social quotient. Of the 105 children, 65 were male, 40 of 105 (38%) had a history of birth asphyxia. The mean age of onset of seizures was 18.9 months; 64 (60.95%) had seizure onset before 1 year of age. Children with myoclonic seizures ( P < .05) and infantile spasms ( P < .01) had seizure onset significantly early in life. Generalized seizures were the most common, followed by partial seizures, infantile spasms, and other myoclonic seizures. Seizures were controlled in 45 (58.1%) children, and polytherapy was required in 40 children. EEG and CT abnormalities were seen in 70.5% and 61% of the children. Seizure control was achieved in 74% of the patients with a normal to borderline social quotient compared with 48.7% with a social quotient less than 70. Social quotient values had a positive correlation with age of onset of seizures ( P < .01) and with better control of seizures ( P < .01). Of the cohort of 452 children, 160 (35.4%) had epilepsy. The maximum incidence (66%) was seen in children with spastic hemiplegia, followed by quadriplegia (42.6%) and diplegia (15.8%). Epilepsy in cerebral palsy is seen in about one third of cases; it is often severe and difficult to control, particularly in children with mental retardation. ( J Child Neurol 2003; 18: 174—179).
Pediatric Neurology Services in Canada
Authors: Ronen Gabriel M. , Meaney Brandon F.
Published: June 2007

As the practice of pediatric neurology has continued to evolve and expand, concerns have emerged regarding a perceived trend toward increasing clinical demand and decreasing manpower. Quantitative data are lacking, however. To address this, a questionnaire was sent to hospital-based pediatric neurology units in Canada, with all 18 centers responding. A total of 63 full-time-equivalent pediatric neurologists were disproportionately spread across the country, giving an overall ratio of 2.1 per million population (or 1.1 per 100,000 children). Waiting times for nonurgent consultations showed a median of 12.5 weeks. The number of weekly clinics per population was not proportional to either the number of specialists per center or to the waiting times. The regional variations in the level of service do not correlate with the regional manpower figures, reflecting different individual profiles of clinical and academic activities. ( J Child Neurol 2003; 18: 180—184).
Rod Distribution and Muscle Fiber Type Modification in the Progression of Nemaline Myopathy
Authors: Reed Umbertina C. , Marie Sueli K. , Zanoteli Edmar , Fireman Moacir A. T. , Oliveira Acary S. B. , Werneck Lineu C. , Beggs Alan H. , Zatz Mayana , Vainzof Mariz
Published: June 2007

Nemaline myopathy is a structural congenital myopathy associated with the presence of rodlike structures inside the muscle fibers and type I predominance. It may be caused by mutations in at least five genes: slow α-tropomyosin 3 (chromosome 1q22-23), nebulin (chromosome 2q21.1-q22), actin (chromosome 1q42), tropomyosin 2 (chromosome 9p13), and troponin T1 (chromosome 19ql3.4).The effect of these mutations in the expression of the protein and the mechanism of rod formation is still under investigation. We analyzed the possibility of progressive alterations with time and/or disease evolution, such as transformation of type I to type II fiber and rod pattern and distribution in muscle fibers from patients with nemaline myopathy, through a morphometric and immunohistochemical analysis of different muscle protein isoforms. A tendency of diffuse rods to be organized in the subsarcolemmal region was observed in two patients who were submitted to subsequent biopsies after 10 and 13 years. Additionally, we observed the expression of type II protein isoforms in type I fibers and a higher proportion of type II fibers in the younger patient of a pair of affected sibs, giving further support to the hypothesis of progressive conversion of type II to type I fibers in nemaline myopathy. ( J Child Neurol 2003;18:235—240).
Mitochondrial Myopathy and Respiratory Failure Associated With a New Mutation in the Mitochondrial Transfer Ribonucleic Acid Glutamic Acid Gene
Authors: Bruno Claudio , Sacco Oliviero , Santorelli Filippo M. , Assereto Stefania , Tonoli Emmanuel , Bado Massimo , Rossi Giovanni A. , Minetti Carlo
Published: June 2007

We report a novel T14687C mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene in a 16-year-old boy with myopathy and lactic acidosis, retinopathy, and progressive respiratory failure leading to death. A muscle biopsy showed cytochrome c oxidase—negative ragged-red fibers, and biochemical analysis of the respiratory chain enzymes in muscle homogenate revealed complex I and complex IV deficiencies. The mutation, which affects the trinucleotide (TΨC) loop, was nearly homoplasmic in the muscle DNA of the proband, but it was absent in his blood and in the blood from the asymptomatic mother, suggesting that it may have been a spontaneous somatic mutation in muscle. ( J Child Neurol 2003;18:300—303).
Intracranial Calcification With Congenital Rubella Syndrome in a Mother With Serologic Immunity
Authors: Numazaki Kei , Fujikawa Tomoko
Published: June 2007

We report a case of an infant with congenital rubella. The mother had received rubella vaccine at the age of 13 years. Rubella serology was performed on day 34 of pregnancy and the result was interpreted as being a positive titer. The patient was a girl born by cesarean section owing to intrauterine growth retardation and fetal distress after 37 weeks' gestation. A computed tomographic scan at 4 days of age showed several cortical low-density areas and calcifications of the periventricular area and basal ganglia. Magnetic resonance imaging (MRI) performed at 4 weeks of age showed almost similar findings. The infant had serum IgG and IgM antibodies against rubella. Rubella virus ribonucleic acid (RNA) was detected from the serum, urine, and cerebrospinal fluid of the infant. At 2 months of age, the patient showed severe bilateral hearing loss. At 12 months of age, she had mild mental retardation and developmental delay. ( J Child Neurol 2003;18:296—297).
Clinical Experience With Open-Label Topiramate Use in Infants Younger Than 2 Years of Age
Authors: Watemberg Nathan , Goldberg-Stern Hadassah , Ben-Zeev Bruria , Berger Itai , Straussberg Rachel , Kivity Sara , Kramer Uri , Brand Nathan , Lerman-Sagie Tally
Published: June 2007

To assess the efficacy, safety, and tolerability of topiramate in infants younger than 24 months of age, we conducted an open-label, multicenter chart review study of infants who received topiramate. Twenty-eight patients were evaluated. All had refractory epilepsy. The mean age of seizure onset was 3.8 months (range 0—10 months). Refractory infantile spasms were the most common epilepsy syndrome. Among infants without infantile spasms, complex partial seizures were the prominent seizure type in eight, followed by simple partial seizures in six. Topiramate was prescribed as add-on therapy in 25 cases and as monotherapy in 3 cases. Seven of the eight infantile spasms cases improved on topiramate therapy, attaining topiramate monotherapy in three infants. Half of the infants with other seizure types responded to topiramate. The average treatment duration among topiramate responders was 11 months. Topiramate was prescribed after a mean of 3.3 antiepilepsy drugs had been used in these infants. In no case was topiramate the first prescribed antiepilepsy drug. Adverse effects occurred only in five patients, leading to topiramate discontinuation in two patients. Topiramate was efficacious and well tolerated in infants younger than 24 months of age with refractory epilepsy. Prospective data are needed to corroborate this observation. ( J Child Neurol 2003;18:258—262).
Magnetic Resonance Imaging Findings in Infantile Spasms: Etiologic and Pathophysiologic Aspects
Authors: Saltik Sema , Kocer Naci , Dervent Aysin
Published: June 2007

An etiologic evaluation of 86 patients with infantile spasms is presented and the place of cranial magnetic resonance imaging (MRI) findings within this spectrum is discussed. A total of 103 cranial MRIs, performed between 4 and 72 months of age, were analyzed and classified according to the etiologic and pathophysiologic aspects. Ninety-one percent of cases were diagnosed as symptomatic infantile spasms, and hypoxic-ischemic encephalopathy was the primary cause (30%). The most common involvement was thinning of the corpus callosum in 43 patients (50%), followed by dilation of cerebral ventricles in 32 (36%), delayed myelination in 23 (26.7%), lesions of diencephalic deep gray matter in 17 (19.7%), and enlargement of the subarachnoid space in 12 (14%). Thin corpus callosum and diffuse atrophy were changes mainly associated with hypoxic-ischemic encephalopathy, whereas delayed myelination seemed to be independent from a specific etiology. The results showed that cranial MRI may provide considerable information regarding not only the etiology but also the pathophysiology of infantile spasms. ( J Child Neurol 2003;18:241—246).
A Simple Method for Diagnosis of Autosomal Recessive Spinal Muscular Atrophy by Denaturing High-Performance Liquid Chromatography
Authors: Mazzei Rosalucia , Conforti Francesca Luisa , Muglia Maria , Sprovieri Teresa , Patitucci Alessandra , Magariello Angela , Lia Gabriele Anna , Quattrone Aldo
Published: June 2007

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 detect SMN gene deletion by denaturing high-performance liquid chromatography, which is also simple to perform but is faster and more specific. ( J Child Neurol 2003;18:269—271).
Opsoclonus: An Early Sign of Neonatal Herpes Encephalitis
Authors: Krolczyk Stanley , Pacheco Esperanza , Valencia Pablo , Papazian Oscar , Yelin Karina , Alfonso Israel
Published: June 2007

Preferential involvement of certain central nervous systems areas by specific viruses provides a valuable guide to the selection of antiviral agents. We report a neonate that developed opsoclonus 7 days prior to the diagnosis of herpes simplex type 2 cerebellitis. The course of the opsoclonus paralleled the clinical course and radiologic evolution of the infection. The purpose of this report is to describe opsoclonus as a possible early sign of herpes simplex type 2 central nervous system infection. ( J Child Neurol 2003;18:356—358).
Natural History of Oppenheim's Dystonia (DYT1) in Israel
Authors: Anca Marieta H. , Tcipora Falik Zaccai  , Badarna Samih , Lozano Andres M. , Lang Anthony E. , Giladi Nir
Published: June 2007

The question of whether a fetus carrying the GAG deletion on the DYT1 gene responsible for Oppenheim's dystonia should be aborted is frequently raised. The objective of this study was to characterize the clinical spectrum and natural course of Oppenheim's dystonia in Israel. Thirty-three patients (19 male) with genetically confirmed Oppenheim's dystonia were evaluated. The Dystonia Rating Scale (maximum score 120) and the Disability Scale (maximum score 30) were used to score severity at the last visit. After a mean of 15.5 ± 13.8 years of symptoms, the mean Dystonia Rating Scale and Disability Scale scores were 22.7 ± 14.7 and 7.7 ± 4.3, respectively. Twenty-one patients (63.6%) have progressed into generalized dystonia. Five patients (15%) are wheelchair bound and three (9%) are using walking aids. All patients have normal cognitive function. Baclofen, trihexyphenidyl, and botulinum toxin were the drugs used. Nine patients (one patient had both) underwent neurosurgical intervention: thalamotomy for six (two bilateral) and pallidotomy for four (three bilateral). The bilateral pallidotomy provided only short-term benefit. The modern treatments combining drugs, botulinum toxin, and functional neurosurgery allow most patients with Oppenheim's dystonia to have independence and a relatively good quality of life. ( J Child Neurol 2003;18:325—330).
Motor Performance and Anatomic Magnetic Resonance Imaging (MRI) of the Basal Ganglia in Autism
Authors: Hardan Antonio Y. , Kilpatrick Megan , Keshavan Matcheri S. , Minshew Nancy J.
Published: June 2007

This study was conducted to examine the volume of the basal ganglia in individuals with autism and to evaluate whether performance on specific motor tasks correlated with the volume of these structures. Volumetric measurements of the caudate nucleus and putamen were obtained from magnetic resonance images (MRI) of 40 non—mentally retarded individuals with autism and 41 healthy controls. Motor performance was assessed in these subjects by using the Finger Tapping Test, the Grooved Pegboard Test, and the measurement of Grip Strength. No volumetric differences of the basal ganglia were found between the two groups after adjusting for brain volume. The autistic subjects' performance was slower on the Grooved Pegboard Test and weaker on Grip Strength. Our findings suggest that the motor deficits observed in autism may not be related to structural abnormalities of the basal ganglia, and other brain regions, such as the cerebellum and the frontal lobe, may be involved in the pathophysiology of motor disturbances in autism. ( J Child Neurol 2003;18:317—324).
Hydranencephaly Owing to Twin—Twin Transfusion: Serial Fetal Ultrasonography and Magnetic Resonance Imaging Findings
Authors: Hahn Jin S. , Lewis Ann J. , Barnes Patrick
Published: June 2007

We report a newborn girl with hydranencephaly. In the setting of a monochorionic twin pregnancy, one twin's demise was detected by ultrasonography at 18 weeks of gestation, apparently the result of a twin—twin transfusion. In the surviving twin, the evolution of ventriculomegaly, first noted at 18 weeks, to hydranencephaly at 27 weeks is documented by serial sonograms. These findings were confirmed with fetal and postnatal magnetic resonance imaging. ( J Child Neurol 2003;18:367—370).
Use of Biperiden Hydrochloride in a Child With Severe Dyskinesia Induced by Phenytoin
Authors: Çaksen Hüseyin , Odabaş Dursun , Anlar Ömer
Published: June 2007

A 5-year-old girl was admitted with a 3-day history of speech disorder and gait abnormality. She had been diagnosed with idiopathic epilepsy and was given phenytoin 2 months before admission to our hospital. On physical examination, she had severe lingualfacial-buccal extrapyramidal movements, slurred speech, and ataxic gait. During examination, she was repetitively scratching her scalp with her right hand every 30 to 60 seconds. Serum phenytoin level was 10 μg/mL (normal 8—20 μg/mL). Electroencephalography showed diffuse slow waves. Magnetic resonance imaging of the brain was normal. During hospitalization, her abnormal findings were thought to be attributable to phenytoin; it was immediately discontinued, and biperiden was initiated. After biperiden was administered, her abnormal movements markedly decreased; later, they almost completely disappeared. In conclusion, we would like to emphasize that severe dyskinesia can be observed during phenytoin therapy and that biperiden can be successfully used in the treatment of this unpleasant condition. ( J Child Neurol 2003;18:494—496).
Hand Preference, Extent of Laterality, and Functional Hand Use in Rett Syndrome
Authors: Umansky Richard , Watson John S. , Colvin Lyn , Fyfe Susan , Leonard Seonaid , de Klerk Nicholas , Leonard Helen
Published: June 2007

Residual hand use in functional tasks, extent of laterality, and right or left preference were studied in 145 2- to 24-year-old, postregression Australian subjects with Rett syndrome via parent questionnaire. Hand use was markedly restricted, more for complex than simple and for external (touching food and objects) than internal tasks (scratching, rubbing eyes), suggesting a deficit in cerebral control of external, goal-oriented hand use, which is perhaps genetically determined because there is significantly greater restriction of external tasks in subjects with demonstrated MECP2 mutations. Overall, 33.6% of patients were reported with a left-hand preference, 40.7% with a right-hand preference, and 25.7% with an equal hand preference. Extent of laterality was greater for external than internal and for complex than simple external tasks. Older subjects showed less functional hand use and possibly more overall laterality. However, their hand preference was similar to younger subjects. The anomalous pattern of hand preference in Rett syndrome may be linked to the primary apraxic deficit in this disorder rather than to late manifestation of laterality. ( J Child Neurol 2003;18:481-487).
Basilar Artery Occlusion in Children: Misleading Presentations, “Locked-In” State, and Diagnostic Importance of Accompanying Vertebral Artery Occlusion
Authors: Rosman N. Paul , Adhami Seema , Mannheim Glenn B. , Katz Nathaniel P. , Klucznik Richard P. , Muriello Mary Anne
Published: June 2007

Basilar artery occlusion in children is rare. The clinical diagnosis of basilar artery occlusion is often difficult because the initial neurologic findings, most frequently hemiparesis, involuntary movements, or headache, are often transient and can suggest complicated migraine, seizures, or both. We have reviewed 37 previously reported pediatric cases of basilar artery occlusion and present 3 additional ones. In the 40 cases, basilar artery occlusion alone occurred in 22; in the other 18, there was accompanying vertebral artery occlusion. In the cases of pure basilar artery occlusion, the most common causes were trauma and arteritis, but in most such cases, the etiology could not be determined. The cause was found much more often in cases of basilar artery occlusion with accompanying vertebral artery occlusion, with trauma being the most frequent etiology, especially in boys between 6 and 14 years. Of the 37 previously reported pediatric cases of basilar artery occlusion, 7 were “locked in” early in the course (mute, quadriparetic, aware, and communicative with eye movements), as were our 3 cases. In most cases of basilar artery occlusion that are locked in, the basilar artery occlusion involves its midportion, sparing the anterior inferior cerebellar and superior cerebellar arteries. ( J Child Neurol 2003;18:450—462).
Congenital Glaucoma and Neurofibromatosis in a Monozygotic Twin: Case Report and Review of the Literature
Authors: Payne Mary S. , Nadell Joseph M. , Lacassie Yves , Tilton Ann H.
Published: June 2007

We describe a dramatic case of an identical twin presenting at birth with unilateral congenital glaucoma. Because of the suspicion of neurofibromatosis 1 a magnetic resonance image of the neural axis was obtained, which revealed a plexiform neurofibroma with spinal cord impingement. Diagnosis of neurofibromatosis 1 was confirmed by 3 months of age with the emergence of café-au-lait spots. This case was compared with all 19 reports published in the English literature of neurofibromatosis 1 associated with congenital glaucoma. Initial presentation, family history, characteristics of the clinical syndrome, and outcome of glaucoma in infants with neurofibromatosis 1 and congenital glaucoma were reviewed. A plexiform neurofibroma of the ipsilateral eyelid was present in eight patients and ipsilateral facial hypertrophy occurred in three patients. Café-au-lait spots appeared between the ages of 5 weeks and 8 years; none of the patients were reported to have café-au-lait spots at birth. Newborns with unilateral congenital glaucoma should raise high suspicion for neurofibromatosis 1 and its associated findings, which might need immediate intervention. ( J Child Neurol 2003;18:504—508).
INTERNATIONAL SCHOOL OF NEUROLOGICAL SCIENCES, 13th Annual Symposium of the Child Neurology Section, Venice, Italy, September 13, 2003
Authors: Curatolo Paolo
Published: June 2007

The International School of Neurological Sciences, located on the island of San Servolo, Venice, Italy, was first founded in 1990 at the beginning of the Decade of the Brain. The school is divided into sections that meet periodically. Invited speakers are known worldwide for their work in the field of the neurologic sciences. Dr Paolo Curatolo (Rome) is the chairman of the Child Neurology Section, and he has always devoted great effort to the organization of international courses and workshops on challenging topics. The 13th Annual Symposium is entitled “Brain Damage in Preterm Infants: Causes and Consequences.”
Children and Adolescents With Attention Deficit-Hyperactivity Disorder: 1. Prevalence and Cost of Care
Authors: Burd Larry , Klug Marilyn G. , Coumbe Matthew J. , Kerbeshian Jacob
Published: June 2007

The objective of this study was to use population-based data to estimate the prevalence and cost of treatment for attention-deficit hyperactivity disorder (ADHD). The North Dakota Department of Health Claims Database was used to estimate the administrative prevalence, annual cost of care per case, and total annual cost of care for subjects with ADHD compared with controls. The case population was 7745, and the mean prevalence rate was 3.9%, with a peak prevalence at 10 years of age. For children with ADHD, the annual cost of care was $649 compared with that of controls at $495. Cost of care attributable to ADHD was $649 - $495 = $154 (31%). Utilization by children with ADHD with publicly funded payers was increased 25 to 175% over that of children with privately funded coverage. In North Dakota, the annual cost of care for children with ADHD was $5.1 million, 5.6% of all health care costs for children. The annual attributable cost of care was $1.79 million. Thus, 1.9% of total health expenditures for children was attributable to ADHD. In the United States, the cost of care attributable to children with ADHD would be $2.15 billion annually. ( J Child Neurol 2003;18:555—561).
Megalencephalic Leukoencephalopathy With Subcortical Cysts
Authors: Singhal Bhim S. , Gorospe J. Rafael , Naidu Sakkubai
Published: June 2007

Megalencephalic leukoencephalopathy with subcortical cysts is one of the newly described white-matter disorders for which recognition has been brought about by advances in imaging technology. The essential diagnostic features include megalencephaly noted in infancy, motor disability in the form of spasticity, ataxia, occasional seizures, mild cognitive decline, and slow progression. Magnetic resonance imaging (MRI) shows bilateral extensive white-matter changes with cysts in the temporal regions. Based on the clinical and MRI features, megalencephalic leukoencephalopathy with subcortical cysts can be distinguished from other conditions (ie, Alexander's disease, Canavan's disease, glutaricaciduria type I) that present in infancy with megalencephaly. Megalencephalic leukoencephalopathy with subcortical cysts is an autosomal recessive disorder, and mutations in the MLC1 gene have now been shown to cause this condition. Several genotypic and phenotypic variations have been described. In India, megalencephalic leukoencephalopathy with subcortical cysts occurs predominantly in the Agarwal community. A common mutation in the MLC1 gene has been seen in 31 Agarwal patients, which suggests a founder effect. ( J Child Neurol 2003;18:646—652).
Possible Mechanisms of Osteopenia in Rett Syndrome: Bone Histomorphometric Studies
Authors: Budden Sarojini S. , Gunness Michele E.
Published: June 2007

The etiology of frequently occurring osteoporosis in Rett syndrome is unknown. Five girls, ages 9.75, 11, 12, 13.5, and 14 years, with typical Rett syndrome requiring scoliosis surgery presented an opportunity to study bone remodeling by quantitative bone histomorphometry. Anterior iliac crest bone biopsies taken 1 to 2 days after double labeling of the bone surfaces with tetracycline were submitted for histomorphometry. Bone volume was reduced, and the surface parameters of formation (osteoid surface) were normal, whereas the parameters of resorption (osteoclast surface and number) were decreased. In four girls, the rate of bone formation was reduced but could not be measured in one girl owing to poor labeling. It is possible that the slow rate of bone formation impedes the development and accumulation of peak bone mass and contributes to the decreased bone volume in Rett syndrome. Perhaps MECP2 mutations in Rett syndrome not only influence brain development but also affect bone formation. ( J Child Neurol 2003;18:698—702).
Clinical Variability in Rett Syndrome
Authors: Naidu SakkuBai , Bibat Genila , Kratz Lisa , Kelley Richard I. , Pevsner Jonathan , Hoffman Eric , Cuffari Carmen , Rohde Charles , Blue Mary E. , Johnston Michael V.
Published: June 2007

The clinical variability of Rett syndrome, associated with mutations in the MECP2 gene, varies from classically symptomatic female patients to asymptomatic female patients, and male patients who have none of the diagnostic features considered pathognomonic of this disease. Multiple factors contribute to this variability. In our studies, mutations closer to the amino-terminus, prior to amino acid 255, led to severe clinical manifestations, such as inability to walk, severe dysphagia, and urinary organic acid abnormalities, compared with mutations toward the carboxyl-terminus. However, we found no correlation between severity and mutation type (missense versus nonsense). Despite the importance of mutation location to clinical severity, the widely varying severity within the same mutation suggests that in females, X-chromosome inactivation or other epigenetic phenomena also have roles in determining severity. We propose that stages 1 and 2 of the disease are a consequence of failed, time-linked, postnatal expression of MeCP2 in cerebellar neurons. This, in association with glutamate N-methyl-D-aspartate receptor—mediated neuroexcitotoxic injury to the differentiating neurons, results in the transient age-specific autistic-like behavior, motor, and cognitive dysfunction associated with these stages. ( J Child Neurol 2003; 18:662-668).
MeCP2 Expression in Human Cerebral Cortex and Lymphoid Cells: Immunochemical Characterization of a Novel Higher-Molecular-Weight Form
Authors: Jarrar Mohammed H. , Danko Charles G. , Reddy Sriram , Lee Ye-Jin M. , Bibat Genila , Kaufmann Walter E.
Published: June 2007

Most cases of Rett syndrome are associated with mutations in the coding region of MECP2. Here we characterized a novel MeCP2 immunoreactivity, initially detected in normal cerebral cortex, by using a panel of MeCP2 antibodies and a combination of immunochemical techniques. We found that a novel higher-molecular-weight form (~ 100 kDa) of MeCP2 is detected in human frontal cortex nuclear and synaptic fractions and in lymphoid cells. Although in the cortex the higher-molecular-weight form is relatively more abundant than the standard ~ 75 kDa immunoreactivity, in extranuclear locations, lymphocyte lysates show a predominance of the standard 75 kDa band. Lymphoblasts revealed a more complex pattern of MeCP2 expression, with prominent higher-molecular-weight form and both higher-molecular-weight form and 75 kDa MeCP2 immunoreactivities encompassing several closely migrating bands. We also successfully immunoprecipitated both the 75 kDa immunoreactivity and the higher-molecular-weight form MeCP2 from cerebral cortex with a C-terminal antibody and confirmed their identities by immunoblotting with C- and N-terminal antibodies. Our data provide compelling evidence for the existence of a novel MeCP2 molecular form, most likely the result of post-translational modification. Detection in both brain and lymphoid cells suggests an important role for higher-molecular-weight form in MeCP2-dependent processes. The presence of higher-molecular-weight form MeCP2 in postsynaptic fractions indicates a possible involvement in linking synaptic activity and transcriptional repression that, in turn, could play a role in the pathogenesis of Rett syndrome and other neurologic disorders. ( J Child Neurol 2003;18:675—682).
Results of Surgery for Scoliosis in Rett Syndrome
Authors: Kerr Alison M. , Webb Peter , Prescott Robin J. , Milne Yvonne
Published: June 2007

The British Isles Survey for Rett Syndrome stores longitudinal health data from clinical examinations and postal questionnaires to monitor health and severity in Rett syndrome, including the presence and severity of scoliosis and the effects of corrective surgery. Scoliosis is rarely present at birth (3% before regression) but usually appears by 25 years (87%). The degree tends to increase with growth and by 16 to 20 years, 43% (75 of 173) of cases with classic Rett syndrome reported severe or operated scoliosis. Surgical correction was reported in 91 classic cases. Following initial postoperative recovery, families considered that the operation had improved general well-being for 84% of individuals (42 of 50 classic cases with postoperative health reports). Thirteen of 50 patients walked independently before surgery, and 12 patients did so following surgery; 2 stopped walking, and 1 who had not walked began to do so. Scoliosis surgery usually benefited sitting posture (82% better, 10% worse), chest episodes (52% better, 6% worse), and digestion of food (42% better, 6% worse). However, toilet function was improved in only 10% and deteriorated in 20%. Families reported short-term problems at operation in 48% (24 of 50) and minor recurrence of scoliosis in 22% (11 of 50). Surgery in a specialized unit is satisfactory management for severe scoliosis in Rett syndrome. Recommendations include planning for surgery when the curve passes 40°, ensuring optimal nutrition before and after surgery, robust fixture of the whole spine in two stages, familiarization of the surgical team with the individual and the disorder before the operation, and inclusion of the main carer in the hospital care team. Parents form an important part of the management team. Families also require support during and after this stressful major procedure. ( J Child Neurol 2003;18:703—708).