Journals TOC

Objective This study aims to compare mechanography, measuring force in jumping, and rising, with the 6-minute walk test (6MWT) and time function tests in pediatric patients with hereditary motor and sensory neuropathies. Methods A cohort of 23 patients performed the 6MWT and time function tests (time to run 10 m, to rise from a supine position, and to climb four stairs), as well as the chair rising test (CRT) and the single two-legged jump (S2LJ) on a mechanography ground reaction force platform. Results were correlated calculating linear regression. Results Correlation revealed high or moderate correlation between mechanography and the 6MWT and the time function tests: S2LJ/6MWT = 0.64; CRT/6MWT = 0.52; S2LJ/rising from floor = 0.63; CRT/rising from floor = 0.67; S2LJ/10 m run = 0.74; CRT/10 m run = 0.66; S2LJ/climb four stairs = 0.56; CRT/climb four stairs = 0.47. Conclusion Jumping mechanography is a good additional tool for the assessment of pediatric patients with Charcot-Marie-Tooth disease and might be used for primary outcome measures. It was not feasible in more advanced stages of the disease. In less disabled children, the S2LJ, which quantifies force generated by proximal and distal muscles, might be superior to other tests.

Clinical neurophysiology still has a role in the diagnostic process of pediatric neuromuscular disorders. It should be integrated into a stepwise diagnostic process which includes a first step clinical examination to build a clinical hypothesis, followed by muscle ultrasound, and finally clinical neurophysiology where it is necessary. There is still a need for further research if new techniques such as impedance myography, motor unit counting, and others give additional information and if they can be used to evaluate the efficacy of new drugs.

Publication date: Available online 19 April 2017
Source:Seminars in Pediatric Neurology

Author(s): John B. Bodensteiner

Publication date: Available online 5 January 2017
Source:Seminars in Pediatric Neurology

Author(s): Puja Mehta, Ana Melikishvili, Karen S. Carvalho

The respiratory and central nervous systems are intimately connected. Ventilatory control is strictly regulated by central mechanisms in a complex process that involves central and peripheral chemoreceptors, baroreceptors, the cardiovascular system, and specific areas of the brain responsible for autonomic control. Disorders of the lung and respiratory system can interfere with these mechanisms and temporarily or permanently disrupt this complex network resulting in mild to severe neurological sequelae. This article explores the wide variety of neurological problems resulting from respiratory dysfunction, with emphasis on its pathophysiology, clinical features, prognosis, and long-term outcome.

Publication date: Available online 19 April 2017
Source:Seminars in Pediatric Neurology

Author(s): John B. Bodensteiner

Publication date: May 2017
Source:Brain and Development, Volume 39, Issue 5

Author(s): Sayaka Ishii, Yoshimi Kaga, Tomoko Tando, Kakuro Aoyagi, Fumikazu Sano, Hideaki Kanemura, Kanji Sugita, Masao Aihara

Objective Attention-deficit/hyperactivity disorder (AD/HD) is a common developmental disorder. Many reports have suggested that symptoms of AD/HD are related to frontal lobe dysfunctions, particularly disinhibition. However, measuring neurological findings with biomarkers during frontal functional tasks has sometimes been difficult in children with AD/HD. This study aimed to investigate frontal inhibitory function objectively in children with AD/HD during “rock, paper, scissors” (RPS) tasks, as a familiar game for Japanese children, using near-infrared spectroscopy (NIRS). Subjects and methods Eighteen children with AD/HD were compared with 27 typically developing children (TDC). Children from each group were divided into two age groups: younger, 6–10years; and older, 11–16years. Changes in oxygenated hemoglobin [oxy-Hb] were measured in the prefrontal region using NIRS during a ‘to lose’ RPS task, in which subjects were asked to present the RPS signal that would lose in response to one of the three signals displayed randomly on a computer screen every 2.0s. Results The rate of correct performance with both TDC and AD/HD increased with age. Only in the older group, the rate of correct performance was significantly higher with TDC than with AD/HD. However, children with AD/HD in both age groups showed significantly lower [oxy-Hb] activity in the prefrontal region during the ‘to lose’ RPS task, particularly in the dorsolateral area. Conclusions Our results suggest that prefrontal region activation during the ‘to lose’ RPS task could offer a biomarker for diagnosing AD/HD, and may help in the early treatment of AD/HD.

Publication date: Available online 24 May 2017
Source:Brain and Development

Author(s): Manami Morikawa, Kyoko Takano, Mitsuo Motobayashi, Naoko Shiba, Tomoki Kosho, Yozo Nakazawa, Yuji Inaba

We present a 3-year-old girl with beta-propeller protein-associated neurodegeneration (BPAN) who had a de novo heterozygous splice-site mutation of c.831-1G>C in WDR45 and developed infantile spasms; her onset age of infantile spasms was relatively late. Her infantile spasms and hypsarrhythmia disappeared promptly by adrenocorticotropic hormone therapy (CORTROSYN®Z, 0.0125mg/kg/day daily for 2weeks intramuscularly), though the administration of pyridoxal phosphate and valproic acid had poor efficacy. BPAN is known to be associated with various types of seizures, but there are few reports on infantile spasms, especially in females. To date, only 5 patients with BPAN have been reported to develop infantile spasms, and our patient is the second case in females. In this report, we showed that female patients with BPAN had milder phenotypic features than males: males developed intractable infantile spasms in early infancy, while females had treatable infantile spasms in late infancy.

Publication date: Available online 24 May 2017
Source:Brain and Development

Author(s): Yukimune Okubo, Taro Kitamura, Mai Anzai, Wakaba Endo, Takehiko Inui, Yusuke Takezawa, Sato Suzuki-Muromoto, Takuya Miyabayashi, Noriko Togashi, Hiroshi Oba, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Haginoya

We report a patient with Muenke syndrome who had repetitive apneic spell followed by focal status epilepticus in the early infancy. Ictal EEG showed focal spikes bursts originated from the left hemisphere and sifted to the right hemisphere, during which he had migrating tonic seizures from right side of the body to the left side of the body. Brain MRI showed abnormal development of bilateral hippocampus, which was characterized as abnormal folding of hippocampal gyri. However, the long-term seizure prognosis was favorable. Results from this and previous studies failed to support the notion that FGFR3 (P250) mutation results in epileptic encephalopathy.

This commentary is on the original article by Harrowell et al.

This commentary is on the original article by Kramer and Schwartz.

Aim To compare the oral health status of children and adolescents affected by intellectual disabilities with their unaffected counterparts. Method Citations published in English were searched from electronic databases (PubMed, Embase, Web of Science, and Scopus) from their start dates to March 2017. The whole process was conducted following PRISMA (Preferred Reporting Items for Systematic reviews and Meta-Analyses) guidelines. The PICO (population, intervention/interest, comparator, outcome) principle was used to formulate the topic. Studies were synthesized through qualitative summary or, whenever possible, meta-analysis. Results The initial search yielded 2393 records. Thirty-nine studies from 22 countries were identified for qualitative analysis; 26 studies were eligible for meta-analysis. Participants with intellectual disabilities had higher levels of dental plaque, worse gingival status, fewer decayed and filled permanent teeth, and similar caries experience between males and females. These findings were supported by both qualitative and quantitative analysis. Various patterns of caries experiences were indicated by qualitative analysis, but it was not substantiated by meta-analysis. Interpretation There is increasing worldwide interest in oral health status of children with intellectual disabilities. Differences in dental plaque deposition, gingival inflammation, and the number of decayed and filled permanent teeth were investigated between children and adolescents with and without intellectual disabilities. Evidence remains elusive about the pattern of caries experience among those children. Estado de la salud oral de niños y adolescentes con discapacidad intelectual: una revisión sistemática y meta-análisis Objetivo Comparar el estado de la salud oral de niños y adolescentes que presentan una discapacidad intelectual con un grupo de niños y adolescentes sin discapacidad intelectual Método Se buscaron artículos publicadas en inglés en bancos de datos electrónicos (PubMed, Embase, Web of Science, y Scopus) desde sus inicios hasta marzo de 2017. Todo el proceso fue dirigido siguiendo las guías de PRISMA (Preferred Reporting Items for Systematic reviews and Meta-Analyses). Se utilizó el principio PICO (población, intervención/interés, comparador, resultados) para formular el tema. Los estudios fueron sintetizados a través de un resumen cualitativo o, cuando fue posible, un metaanálisis. Resultados La búsqueda inicial arrojó 2393 artículos. Se incluyeron 39 estudios - de 22 países - para análisis cualitativo; y a su vez, 26 estudios cumplieron los criterios para umetaanálisis. Los participantes con discapacidad intelectual tenían niveles más altos de placa dental, peor estado gingival, menos dientes con arreglos permanentes, no se encontraron diferencias en la historia de caries entre hombres y mujeres. Estos hallazgos fueron apoyados tanto por análisis cuantitativos como cualitativos. Se señalaron varios patrones de experiencia de caries en los análisis cualitativos, pero esto no fue demostrado por los metaanálisis. Interpretacion Hay un aumento del interés mundial en la salud oral de los niños con discapacidad intelectual. Se investigaron las diferencias en el depósito de placa dental, la inflamación gingival y el número de dientes permanentes cariados y con arreglos dentales permanentes entre niños y adolescentes con y sin discapacidad intelectual. La evidencia acerca del patrón de caries entre esos niños continúa siendo difícil de alcanzar. Estado da saúde oral em crianças e adolescentes com deficiência intelectual: uma revisão sistemática e metanálise Objetivo Comparar o estado da saúde oral de crianças e adolescentes afetados por deficiência intelectual com o de seus pares não afetados. Método Citações publicadas em inglês foram procuradas em bases de dados eletrônicas (PubMed, Embase, Web of Science, e Scopus) do início até março de 2017. O processo seguiu as diretrizes PRISMA (Itens preferencialmente reportados para revisões sistemáticas e metanálises). O princípio PICO (população, intervenção/interesse, comparador, resultado) foi usado para formular o tópico. Os estudos foram sintetizados por meio de resumo qualitativo ou, sempre que possível, metanálise. Resultados A busca inicial resultou em 2393 registros. Trinta e nove estudos de 22 países foram identificados para análise qualitativa; 26 estudos foram elegíveis para metanálise. Participantes com deficiência intelectual tiveram níveis mais altos de placa dental, pior estado gengival, menos dentes permanentes estragados e restaurados, e experiência de cárie similar entre sexo masculino e feminino. Os achados foram sustentados tanto pela análise qualitativa quanto metanálise. Vários padrões de experiência de cárie foram indicados na análise qualitativa, mas não foram substanciados pela metanálise. Interpretação Há interesse global crescente no estado da saúde oral de crianças com deficiência intelectual. Diferenças na deposição de placa dental, inflamação gengival, e o número de dentes permanentes estragados e restaurados foram investigados entre crianças e adolescentes com e sem deficiência intelectual. A evidência permanece elusiva sobre o padrão de experiência de cárie entre estas crianças.

Objective Inhibition of the mammalian target of rapamycin (mTOR) pathway reduces epileptogenesis in various epilepsy models, possibly by inhibition of inflammatory processes, which may include the proteasome system. To study the role of mTOR inhibition in the regulation of the proteasome system, we investigated (immuno)proteasome expression during epileptogenesis, as well as the effects of the mTOR inhibitor rapamycin. Methods The expression of constitutive (β1, β5) and immunoproteasome (β1i, β5i) subunits was investigated during epileptogenesis using immunohistochemistry in the electrical post-status epilepticus (SE) rat model for temporal lobe epilepsy (TLE). The effect of rapamycin was studied on (immuno)proteasome subunit expression in post-SE rats that were treated for 6 weeks. (Immuno)proteasome expression was validated in the brain tissue of patients who had SE or drug-resistant TLE and the effect of rapamycin was studied in primary human astrocyte cultures. Results In post-SE rats, increased (immuno)proteasome expression was detected throughout epileptogenesis in neurons and astrocytes within the hippocampus and piriform cortex and was most evident in rats that developed a progressive form of epilepsy. Rapamycin-treated post-SE rats had reduced (immuno)proteasome protein expression and a lower number of spontaneous seizures compared to vehicle-treated rats. (Immuno)proteasome expression was also increased in neurons and astrocytes within the human hippocampus after SE and in patients with drug-resistant TLE. In vitro studies using cultured human astrocytes showed that interleukin (IL)-1β-induced (immuno)proteasome gene expression could be attenuated by rapamycin. Significance Because dysregulation of the (immuno)proteasome system is observed before the occurrence of spontaneous seizures in rats, is associated with progression of epilepsy, and can be modulated via the mTOR pathway, it may represent an interesting novel target for drug treatment in epilepsy.

Objective To report the presurgical workup, surgical procedures, and outcomes in a series of pediatric patients with drug-resistant epilepsy involving the perisylvian/insular regions. Methods We retrospectively assessed 16 pediatric patients affected by drug-resistant focal epilepsy involving perisylvian/insular regions, who consecutively underwent tailored resective surgery. All patients underwent a detailed presurgical workup, which included the analysis of the anatomoelectroclinical correlations with scalp electroencephalography (EEG) and/or with stereo-electroencephalography (SEEG), brain magnetic resonance imaging (MRI), and comprehensive cognitive and neuropsychological evaluations. After surgery, all patients underwent serial clinical and laboratory evaluations. Results Focal motor seizures restricted to perioral area, associated with symptoms related to the surrounding areas (as auditory hallucinations, unpleasant paresthesia, fear, and epigastric sensation), characterized the ictal semiology in 75% of patients. In 50%, autonomic manifestations were present and in 56% subjective manifestations were reported. The 50% of the patients underwent SEEG with insular sampling to better define the epileptogenic zone. In all patients, the insular cortex was always part of the epileptogenic zone, and tailored resections also involved, with variable degree, the frontal, parietal, and temporal opercula. Preoperatively, the neuropsychological assessment revealed impairments in specific cognitive functions and mild or moderate cognitive compromise in 88% of the patients. Postoperatively, one patient had permanent slight hemiparesis. At the most recent follow-up (median 39 months), seizure outcome was satisfactory in 69% of patients: seven patients were completely seizure-free (Engel class Ia), two were free of disabling seizure (class Ic), and two had rare disabling seizures (class II). The cognitive functioning remained unchanged in 62%, and improved in 38%. Significance The assessment of perisylvian/insular epilepsy in children is particularly challenging. However, tailored resections based on a careful presurgical evaluation, including SEEG recording, may lead to a good seizure control and to a better overall outcome.

Objective To determine changes in glucose metabolism and the enzymes involved in the hippocampus ictally and postictally in the acute mouse flurothyl seizure model. Methods [U-13C]-Glucose was injected (i.p.) prior to, or following a 5 min flurothyl-induced seizure. Fifteen minutes later, mice were killed and the total metabolite levels and % 13C enrichment were analyzed in the hippocampal formation using gas chromatography–mass spectrometry. Activities of key metabolic and antioxidant enzymes and the phosphorylation status of pyruvate dehydrogenase were measured, along with lipid peroxidation. Results During seizures, total lactate levels increased 1.7-fold; however, [M + 3] enrichment of both lactate and alanine were reduced by 30% and 43%, respectively, along with a 28% decrease in phosphofructokinase activity. Postictally the % 13C enrichments of all measured tricarboxylic acid (TCA) cycle intermediates and the amino acids were reduced by 46–93%. At this time, pyruvate dehydrogenase (PDH) activity was 56% of that measured in controls, and there was a 1.9-fold increase in the phosphorylation of PDH at ser232. Phosphorylation of PDH is known to decrease its activity. Significance Here, we show that the increase of lactate levels during flurothyl seizures is from a source other than [U-13C]-glucose, such as glycogen. Surprisingly, although we saw a reduction in phosphofructokinase activity during the seizure, metabolism of [U-13C]-glucose into the TCA cycle seemed unaffected. Similar to our recent findings in the chronic phase of the pilocarpine model, postictally the metabolism of glucose by glycolysis and the TCA cycle was impaired along with reduced PDH activity. Although this decrease in activity may be a protective mechanism to reduce oxidative stress, which is observed in the flurothyl model, ATP is critical to the recovery of ion and neurotransmitter balance and return to normal brain function. Thus we identified promising novel strategies to enhance energy metabolism and recovery from seizures.

Metabolic Autocrine Regulation of Neurons Involves Cooperation Among Pannexin Hemichannels, Adenosine Receptors, and KATP Channels.  Kawamura M, Jr., Ruskin DN, Masino SA. J Neurosci 2010;30(11):3886–3895.  Metabolic perturbations that decrease or limit blood glucose—such as fasting or adhering to a ketogenic diet—reduce epileptic seizures significantly. To date, the critical links between altered metabolism and decreased neuronal activity remain unknown. More generally, metabolic changes accompany numerous CNS disorders, and the purines ATP and its core molecule adenosine are poised to translate cell energy into altered neuronal activity. Here we show that nonpathological changes in metabolism induce a purinergic autoregulation of hippocampal CA3 pyramidal neuron excitability. During conditions of sufficient intracellular ATP, reducing extracellular glucose induces pannexin-1 hemichannel-mediated ATP release directly from CA3 neurons. This extracellular ATP is dephosphorylated to adenosine, activates neuronal adenosine A1 receptors, and, unexpectedly, hyperpolarizes neuronal membrane potential via ATP-sensitive K+ channels. Together, these data delineate an autocrine regulation of neuronal excitability via ATP and adenosine in a seizure-prone subregion of the hippocampus and offer new mechanistic insight into the relationship between decreased glucose and increased seizure threshold. By establishing neuronal ATP release via pannexin hemichannels, and hippocampal adenosine A1 receptors coupled to ATP-sensitive K+ channels, we reveal detailed information regarding the relationship between metabolism and neuronal activity and new strategies for adenosine-based therapies in the CNS.

Predictors of Efficacy After Stereotactic Radiosurgery for Medial Temporal Lobe Epilepsy.  Chang EF, Quigg M, Oh MC, Dillon WP, Ward MM, Laxer KD, Broshek DK, Barbaro NM; Epilepsy Radiosurgery Study Group. Neurology 2010;74(2):165–172.  BACKGROUND: Stereotactic radiosurgery (RS) is a promising treatment for intractable medial temporal lobe epilepsy (MTLE). However, the basis of its efficacy is not well understood. METHODS: Thirty patients with MTLE were prospectively randomized to receive 20 or 24 Gy 50% isodose RS centered at the amygdala, 2 cm of the anterior hippocampus, and the parahippocampal gyrus. Posttreatment MRI was evaluated quantitatively for abnormal T2 hyperintensity and contrast enhancement, mass effect, and qualitatively for spectroscopic and diffusion changes. MRI findings were analyzed for potential association with radiation dose and seizure remission (Engel Ib or better outcome). RESULTS: Despite highly standardized dose targeting, RS produced variable MRI alterations. In patients with multiple serial imaging, the appearance of vasogenic edema occurred approximately 9–12 months after RS and correlated with onset of seizure remission. Diffusion and spectroscopy-detected alterations were consistent with a mechanism of temporal lobe radiation injury mediated by local vascular insult and neuronal loss. The degree of these early alterations at the peak of radiographic response was dose-dependent and predicted long-term seizure remission in the third year of follow-up. Radiographic changes were not associated with neurocognitive impairments. CONCLUSIONS: Temporal lobe stereotactic radiosurgery resulted in significant seizure reduction in a delayed fashion which appeared to be well-correlated with structural and biochemical alterations observed on neuroimaging. Early detected changes may offer prognostic information for guiding management.

Seizure Remission and Relapse in Adults with Intractable Epilepsy: A Cohort Study.  Choi H, Heiman G, Pandis D, Cantero J, Resor SR, Gilliam FG, Hauser WA. Epilepsia 2008;49(8):1440–1445.  PURPOSE: To investigate the cumulative probabilities of ≥12 month seizure remission and seizure relapse following remission, and to test the associations of clinical characteristics with these two study end points in a prevalence cohort of intractable adult epilepsy patients during medical management. METHODS: A retrospective cohort study of intractable epilepsy patients seen in 2001 at a single center was conducted. Kaplan–Meier analysis was used to estimate the cumulative probabilities of seizure remission and subsequent seizure relapse. Cox proportional hazards models were used to estimate the association (1) between clinical factors and ≥12 month seizure remission and (2) between clinical factors and seizure relapse following remission. RESULTS: One hundred eighty-seven subjects met the eligibility criteria for intractable epilepsy. The estimate of probability of remission was about 4% per year. Seizure remission was temporary for some individuals, as 5 out of 20 subjects with remission ultimately relapsed. No clinical factors predicted the likelihood of achieving ≥12 month seizure remission or subsequent seizure relapse. DISCUSSION: Some people with intractable epilepsy achieve ≥12 month seizure remission during medical treatment. Remission, however, is only temporary for some individuals. We were unable to identify clear predictors for remission.Quantifying the Response to Antiepileptic Drugs: Effect of Past Treatment History.  Schiller Y, Najjar Y. Neurology 2008;70(1):54–65.  OBJECTIVE: To quantify the response to treatment with antiepileptic drugs (AEDs) as a function of the past treatment history and identify additional prognostic factors for predicting the response to newly administered AED treatments. METHODS: A cohort of 478 consecutive patients who received newly administered AED treatments between January 1999 and December 2004 and were followed prospectively for 1.5 to 7.5 years in a single epilepsy clinic. RESULTS: The response to newly administered AED treatments was highly dependent on the past treatment history. The seizure-free rates decreased from 61.8% for the first AED to 41.7%, 16.6%, and 0% after one, two to five, and six to seven past AEDs proved inefficient. This response curve corresponded to a mono-exponential function with a maximal response of 61.8% and half-decay constant of 1.5 AEDs. Likewise the response curve describing a greater than 50% reduction in seizure frequency corresponded to a mono-exponential function with a maximal response of 85.3% and half-decay constant of two AEDs. Three additional independent prognostic factors for predicting the response to AEDs were identified: type of epilepsy, duration of epilepsy, and number of seizures in the 3 months prior to AED initiation. CONCLUSION: Drug resistance is a graded process that follows a mono-exponential course with a half-decay constant of 1.5 to two antiepileptic drugs (AEDs). Although relative drug-resistant epilepsy can be diagnosed after failure of two past AEDs, absolute drug resistance requires failure of six AEDs, as a significant minority of patients (16.6%) is rendered seizure-free by addition of newly administered AEDs even after failure of two to five past antiepileptic drugs.

Despite recent advances in the understanding and identification of perinatal arterial ischemic stroke (PAIS), preventive and therapeutic strategies are cruelly lacking. Neonates affected by this unexpected event are therefore left with a significant risk of neurodevelopmental disability.1 But are all cases of PAIS really unpredictable and inescapable, notably those that occur around birth and are symptomatic during the neonatal period, so-called neonatal arterial ischemic stroke (NAIS)? In this setting, the work of Arnaez & Garcia-Alix deserves special interest.

Despite major advances in neonatal intensive care, the extra-uterine environment is clearly disadvantageous for very preterm infants' general growth and development. Although severe neurological sequelae of very preterm birth are becoming less common, minor sequelae are still occurring, and the prediction of those events is difficult when using imaging.

This Viewpoint discusses the need for longitudinal study of early exposures on child and family development and future health and well-being.

Journal of Child Neurology, Ahead of Print. <br/>

Journal of Child Neurology, Ahead of Print. <br/>

Journal of Child Neurology, Volume 32, Issue 8, Page 789-789, July 2017. <br/>

Progressive supranuclear palsy (PSP), previously believed to be a common cause of atypical parkinsonism, is now recognised as a range of motor and behavioural syndromes that are associated with a characteristic 4-repeat tau neuropathology. New research criteria that recognise early presentations of PSP and operationalise diagnosis of the full spectrum of clinical phenotypes have been reported. The Movement Disorders Society PSP diagnostic criteria include syndromes with few or mild symptoms that are suggestive of underlying PSP pathology and could provide an opportunity for earlier therapeutic interventions in the future.

In their Article, Rolf Wachter and colleagues1 report important evidence for secondary prevention after stroke and show that, after non-large-artery stroke, three 10-day Holter-electrocardiograms (ECGs) increased the detection rate of atrial fibrillation by 9% compared with standard care involving only one 24 h Holter-ECG. The authors point out that long-term Holter-ECGs were easier to integrate into the routine work-up than specialised external loop recorders or implanted devices because they were widely available, familiar to most physicians, and inexpensive.

We agree with Stefan Knecht and colleagues that the rehabilitation setting is ideal for doing prolonged Holter-electrocardiogram monitoring for the detection of atrial fibrillation. We think that this approach should be studied in a randomised trial.

During the past ten years, an increasing number of controlled studies have assessed the potential rehabilitative effects of music-based interventions, such as music listening, singing, or playing an instrument, in several neurological diseases. Although the number of studies and extent of available evidence is greatest in stroke and dementia, there is also evidence for the effects of music-based interventions on supporting cognition, motor function, or emotional wellbeing in people with Parkinson's disease, epilepsy, or multiple sclerosis.

Bertini E, Dessaud E, Mercuri E, et al, for the Olesoxime SMA Phase 2 Study Investigators. Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy:a randomised, double-blind, placebo-controlled phase 2 trial. Lancet Neurol 2017; 17: 513–22—In the methods section of the summary, the penultimate sentence should read “Safety was assessed in all patients who received one or more doses of the study drug.” The fifth sentence of the first paragraph of the Results section should say “Protocol violations occurred in 32 patients (21 [20%] receiving olesoxime…” and the sixth sentence should say “(olesoxime n=9 and placebo n=6)…” The penultimate column heading in table 2 has been corrected to “95% CI” and the following footnote has been added to the table “*=96% CI”.

“We have one chance to die, and one chance to live because of it.” Are these immortal words about our mortality? They certainly have a ring of truth, but they are not attributed to an ancient philosophical text. They are words spoken by Death Cafe Portland organiser Kate Brassington about her motivations for being part of a death positivity movement—one that is centred on the social franchise Death Cafe.

Publication date: July 2017
Source:Pediatric Neurology, Volume 72

Author(s): Jay Desai

Publication date: July 2017
Source:Pediatric Neurology, Volume 72

Author(s): Jorge Vidaurre, Julia Campbell

Publication date: July 2017
Source:Pediatric Neurology, Volume 72

Author(s): Thommy Hansen, Tine Brink Henriksen, Cathrine Carlsen Bach, Niels Bjerregård Matthiesen

Background We summarize the evidence for an association between congenital heart defects and prenatal brain growth through a systematic literature review. Congenital heart defects are among the most common malformations, affecting approximately six per 1000 live births. The association between congenital heart defects and long-term neurodevelopmental disorders is well established. Increasing evidence suggests an association between impaired prenatal brain growth and neurodevelopmental disorders in children with congenital heart defects. Methods Systematic literature searches were performed in PubMed and EMBASE. We included original studies comparing fetuses or newborns with congenital heart defects to reference fetuses or newborns with respect to brain biometrics, including biparietal diameter, brain volume, and head circumference at birth. The study characteristics and the results were extracted and presented in tables. No meta-analysis was undertaken. Results Twenty-eight studies were included. All except two studies found an association between congenital heart defects and measures of reduced prenatal brain growth. The strongest evidence concerned hypoplastic left heart syndrome, tetralogy of Fallot, and transposition of the great arteries. Conclusions The literature suggests an association between congenital heart defects and measures of impaired prenatal brain growth. However, most studies were small and failed to include important potential confounding factors and to address other sources of potential bias as well. Future large-scale studies that address potential confounders are warranted.