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1.
J Child Neurol ; 34(13): 806-814, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31309848

RESUMO

Idiopathic intracranial hypertension, or pseudotumor cerebri, is an increase in cerebrospinal fluid pressure of unknown etiology. It is mostly seen in adults, less frequently in adolescents, rarely in younger children. Only 5 infants meeting idiopathic intracranial hypertension criteria have been mentioned in the literature. We report a case of a previously healthy 9-month-old boy who presented with irritability, decreased appetite, and a bulging fontanelle. Computed tomography (CT) head imaging and cerebrospinal fluid studies revealed normal results. The patient's symptoms transiently resolved after the initial lumbar puncture, but 11 days later, his fontanelle bulged again. A second lumbar puncture revealed an elevated opening pressure of 35 cmH2O and led to a diagnosis of idiopathic intracranial hypertension in accordance with the modified Dandy Criteria. Treatment with acetazolamide at a dose of 25 mg/kg/d was initiated and the patient remained symptom-free for 6 weeks, followed by another relapse. His acetazolamide dose was increased to 37 mg/kg/d, with no further relapses to date. A diagnosis of idiopathic intracranial hypertension is challenging in infants, because the patients cannot yet verbalize typical idiopathic intracranial hypertension-related symptoms such as positional headaches, diplopia, or pulsatile tinnitus. Furthermore, it is more difficult to assess papilledema in that age group. If undetected and untreated, idiopathic intracranial hypertension may result in permanent visual deficits. Little is known about idiopathic intracranial hypertension in infants, and age-specific treatment guidelines are lacking. We discuss this rare case of infantile idiopathic intracranial hypertension and provide a review of the literature, including an overview of disease characteristics and outcomes of idiopathic intracranial hypertension in this very young age group.

2.
Neurol Ther ; 2019 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-31325110

RESUMO

INTRODUCTION: Fingolimod has demonstrated clinical and MRI benefits versus placebo/interferon ß-1a in young adults with multiple sclerosis (MS). Here we report the long-term effects of fingolimod 0.5 mg on clinical and MRI outcomes in young adults with MS aged ≤ 30 years followed up for up to 8 years (96 months). METHODS: This post hoc analysis of pooled FREEDOMS/FREEDOMS II studies included patients who either received fingolimod 0.5 mg from randomization (immediate; N = 163) or switched from placebo to fingolimod at month (M) 24 (delayed; N = 147). The 6-month confirmed disability improvement [6m-CDI: based on Expanded Disability Status Scale (EDSS)], 6m-CDI-plus (6m-CDI+; EDSS, 9-Hole Peg Test, Timed 25-Foot Walk Test), 6-month confirmed disability progression (6m-CDP), time to EDSS score ≥ 4, annualized relapse rates (ARRs), new/newly enlarging T2 (neT2) lesions, and annual rate of brain volume loss (BVL) were analyzed from baseline to M24, M48, and M96. Cox regression and negative binomial regression models were used to analyze measured outcomes. RESULTS: At baseline, more than two-thirds of young adult patients were treatment naïve, had more than two relapses in the previous 2 years, and EDSS score < 2. From M0 to M96, a significantly higher proportion of young adult patients in the immediate group (vs. delayed group) achieved 6m-CDI (58.2% vs. 30.5%, p = 0.0206) and 6m-CDI+ (70.6% vs. 42.3%, p = 0.0149); significantly fewer patients reached 6m-CDP (20.1% vs. 34.7%, p = 0.0058) and EDSS ≥ 4 (24.1% vs. 34.1%, p = 0.0041). Up to M96, young adults in the immediate versus delayed group had lower ARRs (0.16 vs. 0.38, p < 0.0001) and a higher proportion of patients were free of neT2 lesions at M48 (31.0% vs. 5.0%, p = 0.0011). CONCLUSION: In young adult patients with MS, immediate versus delayed fingolimod treatment was associated with improved disease outcomes and greater long-term benefits in both disease activity and disability progression. FUNDING: Novartis Pharma AG.

3.
Epilepsy Behav ; 94: 158-166, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30939411

RESUMO

PURPOSE: This study examined whether increasing physical activity (PA) through 6 months of behavioral counseling positively influenced depressive symptoms and quality of life (QoL) over 12 months among children with epilepsy (CWE). METHODS: A longitudinal multisite randomized controlled trial (RCT) was conducted with 8-14-year-old children with active epilepsy. Participants wore a pedometer to track daily PA and completed 3 measures at 4 time points to examine depressive symptoms and QoL. Stratified by site and activity level, participants were randomized to an intervention or control group. The 6-month intervention included 11 behavioral counseling sessions targeting self-regulation of PA. To assess the associations among PA, depression scores, and QoL, primary analysis involved mixed-effects models. RESULTS: We recruited 122 CWE, of whom 115 were randomized (Mage = 11 ±â€¯2; 50% female) and included in the analysis. The intervention did not increase PA in the treatment compared with the control group. No differences were found between groups over time during the subsequent 6 months, where PA decreased among all participants. Results did not show differences between the groups and over time for measures of depressive symptoms and QoL. SIGNIFICANCE: The intervention did not improve or sustain PA levels over 12 months. Both groups demonstrated declines in PA over one year, but there were no changes in depression scores or QoL. As most participants were already nearly reaching the Canadian average of step counts of children their age, with a baseline daily step count of over 9000, there may be a challenge for further increasing PA over a longer period.

4.
Can J Neurol Sci ; 46(4): 394-402, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31030685

RESUMO

BACKGROUND: Continuous EEG monitoring, in the form of amplitude-integrated (aEEG) or conventional EEG (cEEG), is used in the neonatal intensive care unit (NICU) to detect subclinical central nervous system pathologies, inform management, and prognosticate neurodevelopmental outcomes. To learn more about provider attitudes and current practices in Canada, we evaluated neurologist and neonatologist opinions regarding NICU EEG monitoring. METHODS: A 15-item electronic questionnaire was distributed to 114 pediatric neurologists and 176 neonatologists working across 25 sites. RESULTS: The survey was completed by 87 of 290 physicians. Continuous EEG monitoring is utilized by 97% of pediatric neurologists and 92% of neonatologists. Neurologists and neonatologists differ in their EEG monitoring preferences. For seizure detection and diagnosis of encephalopathy, significantly more neonatologists favor aEEG alone or in combination with cEEG, whereas most neurologists prefer cEEG (p = 0.047, 0.001). There is a significant difference in the perceived gaps in monitoring patients with cEEG between neonatologists (13% would monitor more) and neurologists (41% would monitor more) (p = 0.007). Half of all respondents (53%) reported that they would be interested in attending an education session on neonatal EEG monitoring. CONCLUSIONS: Canadian neurologists and neonatologists do not agree on the best monitoring approach for critically ill neonates. Furthermore, neonatologists perceive a smaller cEEG monitoring gap as compared with neurologists. However, many participants from both specialties would like to increase long-term EEG monitoring in the NICU setting. Facilitating access to EEG monitoring and enhancing education may help to address these needs.

5.
J Child Neurol ; 34(6): 313-320, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30761936

RESUMO

BACKGROUND/OBJECTIVE: Seizure monitoring via amplitude-integrated EEG is standard of care in many neonatal intensive care units; however, conventional EEG is the gold standard for seizure detection. We compared the diagnostic yield of amplitude-integrated EEG interpreted at the bedside, amplitude-integrated EEG interpreted by an expert, and conventional EEG. METHODS: Neonates requiring seizure monitoring received amplitude-integrated EEG and conventional EEG in parallel. Clinical events and amplitude-integrated EEG were interpreted at bedside. Subsequently, amplitude-integrated EEG and conventional EEG were independently analyzed by experienced neonatology and neurology readers. Sensitivity and specificity of bedside amplitude-integrated EEG as compared to expert amplitude-integrated EEG interpretation and conventional EEG were evaluated. RESULTS: Thirteen neonates were monitored for an average duration of 33 hours (range 15-94, SD 25). Fourteen seizure-like events were detected by clinical observation, and 12 others by bedside amplitude-integrated EEG analysis. One of the clinical, and none of the bedside amplitude-integrated EEG events were confirmed as seizures on conventional EEG. Post hoc expert amplitude-integrated EEG interpretation revealed eight suspected seizures, all different from the ones detected by the bedside amplitude-integrated EEG team, of which one was confirmed via conventional EEG. Eight seizures were recorded on conventional EEG. Expert amplitude-integrated EEG interpretation had a sensitivity of 13% with 46% specificity for individual seizure detection, and a sensitivity of 50% with 46% specificity for detecting patients with seizures. CONCLUSION: Real-world bedside amplitude-integrated EEG monitoring failed to detect all seizures evidenced via conventional EEG, while misclassifying other events as seizures. Even post hoc expert amplitude-integrated EEG interpretation provided limited sensitivity and specificity. Considering the poor sensitivity and specificity of bedside amplitude-integrated EEG interpretation, combined monitoring may provide limited clinical benefit.

6.
Artigo em Inglês | MEDLINE | ID: mdl-30500268

RESUMO

Physical activity is promoted for optimal health but may carry risks for children who require medically necessary activity restrictions. The sensitivity, specificity and reliability of the Get Active Questionnaire (GAQ) for identifying children needing special considerations during physical activity was evaluated among parents of 207 children, 3 to 14 years of age (97 (47%) female, mean age of 8.4±3.7 years). GAQ responses were compared to reports obtained directly from the treating physician (n=192/207) and information in the medical chart (clinic notes/physician letter, n=111/207). Parent GAQ responses ( either "No to all questions" or "Yes to 1 or more questions") agreed with physician (Kappa = 0.16, p=0.003) and medical record (Kappa = 0.15, p=0.003) reports of the need for special consideration during physical activity (Yes/No). Sensitivity was 71% (20/28) and specificity was 59% (96/164), with few false negative responses. The GAQ was most effective for rheumatology and cardiology patients. False positives were 29% to 46%, except among chronic pain (80% (4/5)) and rehabilitation (75% (3/4)) patients. Test-retest reliability was moderate (Cronbach's alpha = 0.70) among 57 parents who repeated the GAQ one week later. The GAQ effectively identified children not requiring physical activity restrictions and those with medical conditions similar to those of concern among adults. Additional questions from a qualified exercise professional, as recommended for a "Yes" response on the GAQ, should reduce the false positive burden. Indicating the timeframe of reference for each question and including an option to describe other special considerations (e.g., medication, supervision) are recommended.

7.
J Can Acad Child Adolesc Psychiatry ; 27(4): 222-227, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30487937

RESUMO

Objective: To examine the relationship between physical activity, tic severity and quality of life (QoL) in children and adolescents with persistent tic disorder and Tourette Syndrome. Method: Baseline data was examined from a larger randomized controlled trial (Clinicaltrials.gov NCT02153463). Physical activity was assessed via pedometers with daily step count recorded. Tic severity (assessed via Yale Global Tic Severity Scale or YGTSS) and QoL (assessed via PEDs QL 4.0) were compared between those more physically active (≥12,000 steps/day) and less physically active (<12,000 steps/day). Results: Thirteen children participated; four had ≥12,000 steps/day and nine had <12,000 steps/day. The active group had a lower total tic severity (p = 0.02), and total YGTSS score (p=0.01). The vocal tic severity score was lower in the active group (p=0.02). Motor tic severity was not different amongst the two groups. For Peds QL scores, the active group performed better in physical functioning (p=0.01), social functioning (p=0.03), school functioning (p=0.02), psychosocial functioning (p=0.03) and total PEDs QL score (p=0.01). Conclusions: Higher physical activity levels are associated with lower vocal tic severity and improved aspects of quality of life. Further research is needed to determine the utility of physical activity as therapy for tics.

8.
Epilepsy Behav ; 2018 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-30342878

RESUMO

OBJECTIVE: The objective of this study was to determine the physical literacy (the motivation, confidence, physical competence, and knowledge contributing to the capacity for physical activity) of children with epilepsy, as compared with that of their healthy peers. METHODS: Patients age 8-12 years with epilepsy, without any disabilities interfering with their ability to answer questionnaires and perform vigorous physical activity, were recruited from the Neurology Clinic at the time of visits. They completed the Canadian Assessment of Physical Literacy (CAPL), a comprehensive battery of tests reflecting the primary domains of physical literacy (motivation/confidence, physical competence, knowledge/understanding, and daily behavior). Daily behavior was assessed by pedometer step counts, as well as self-reported moderate-to-vigorous physical activity and screen time. Physical competence included agility and movement skill measures as well as physical fitness. Children with epilepsy were matched with healthy peers from a large research database of over 6000 Canadian children. RESULTS: We tested 35 children with epilepsy, divided into those with presumed self-limiting forms of epilepsy (49%) and those with chronic disease (51%). Only a small proportion of participants (23%) were taking more than one antiepileptic medication, and only one patient was taking three anticonvulsants. Children with epilepsy including those with self-limiting forms had significantly lower total physical literacy scores, lower agility and movement skills, and lower muscular endurance, and reported more screen time than their healthy peers. Only 11% of the children with epilepsy achieved the recommended level of physical literacy. However, the children with epilepsy were knowledgeable about and highly motivated to participate in a physically active lifestyle. CONCLUSIONS: Children with epilepsy demonstrate poor physical literacy levels, with potential immediate and long-lasting negative impacts on general health and psychosocial well-being. Programs promoting physical literacy in children with epilepsy should be encouraged, specifically interventions decreasing screen time and enhancing muscular endurance and motor skills, thereby facilitating healthier lifestyles.

9.
Mult Scler J Exp Transl Clin ; 4(2): 2055217318778610, 2018 Apr-Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29854416

RESUMO

Background: Disease activity differs in young patients with multiple sclerosis (MS) compared with the overall adult MS population. Objective: The objective of this paper is to evaluate the effect of fingolimod 0.5 mg on disease activity in young adults with MS from three randomized, double-blind Phase 3 trials. Methods: Annualized relapse rate (ARR), number of new/newly enlarging T2 lesions (neT2), and no evidence of disease activity (NEDA-3) were estimated in the intent-to-treat population at age 20 (youngest) and 30 (young) and compared to the overall population. Models used included a negative binomial regression (ARR/neT2) and a logistic regression (NEDA), with age at baseline as a continuous covariate. Results: ARRs were higher in younger patients (all p < 0.05), and significantly reduced with fingolimod versus placebo or interferon beta-1a (IFN ß-1a), with the percentage reduction inversely proportional to age. Fingolimod was significantly associated with a lower number of neT2 lesions versus placebo/IFN in all age groups except versus IFN in the youngest patients. Regardless of age, fingolimod-treated patients were more likely to achieve NEDA-3 versus placebo/IFN ß-1a, with strongest benefits in the youngest patients (all p < 0.05). Conclusions: Young adults show higher levels of MS disease activity, and may particularly benefit from fingolimod treatment compared with the overall study population.

10.
Pediatr Neurol ; 84: 21-26, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29859719

RESUMO

BACKGROUND: We attempted to characterize the health-related quality of life in patients with genetically determined leukoencephalopathies as it relates to the severity of clinical features and the presence or absence of a precise molecular diagnosis. METHODS: Health-related quality of life was assessed using the Pediatric Quality of Life Inventory model (Pediatric Quality of Life Inventory 4.0 Self- and Proxy-reports) on 59 patients diagnosed with genetically determined leukoencephalopathies. In total, 38 male and 21 female patients ranging from one to 32 years of age (mean nine years), as well as their parents, completed the Pediatric Quality of Life Inventory health-related quality of life measures. In addition, participants completed detailed standardized clinical assessments or questionnaires. The correlation between health-related quality of life results and the severity of the clinical features, as well as the presence or absence of a molecular diagnosis, were analyzed. RESULTS: Patients with more severe clinical features showed statistically significant lower total Pediatric Quality of Life Inventory scores. More specifically, lower health-related quality of life was noted in children with sialorrhea, gastrostomy, and dystonia and in children who use a wheelchair. CONCLUSIONS: Patients with more severe clinical features experience a lower quality of life. Our study further highlights the importance of addressing both physical and psychosocial issues and discussing perception of quality of life with both parents and children. A larger multicenter prospective study will be needed to further define the burden of these diseases and to identify modifiable factors.

11.
J Neurol ; 265(4): 845-855, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29423614

RESUMO

Antibodies against the myelin oligodendrocyte glycoprotein (MOG-Ab) can be detected in various pediatric acquired demyelinating syndromes (ADS). Here, we analyze the spectrum of neuroradiologic findings in children with MOG-Ab and a first demyelinating event. The cerebral and spinal MRI of 69 children with different ADS was assessed in regard to the distribution and characteristics of lesions. Children with acute disseminated encephalomyelitis (n = 36) or neuromyelitis optica spectrum disorder (n = 5) presented an imaging pattern characterized predominantly by poorly demarcated lesions with a wide supra- and infratentorial distribution. Younger children also tended to have poorly defined and widespread lesions. The majority of patients with an isolated optic neuritis (n = 16) only presented small non-specific brain lesions or none at all. A longitudinally extensive transverse myelitis mainly affecting the cervical, and less often so the thoracic, lumbar, and conus regions, was detected in 31 children. The three children of our cohort who were then finally diagnosed with multiple sclerosis had at onset already demarcated white matter lesions as well as transverse myelitis. In conclusion, children with MOG seropositive ADS present disparate, yet characteristic imaging patterns. These patterns have been seen to correlate to the disease entity as well as to age of symptom onset.


Assuntos
Anticorpos/metabolismo , Encéfalo/diagnóstico por imagem , Doenças Desmielinizantes/diagnóstico por imagem , Glicoproteína Mielina-Oligodendrócito/imunologia , Medula Espinal/diagnóstico por imagem , Adolescente , Aquaporina 4/imunologia , Criança , Pré-Escolar , Doenças Desmielinizantes/imunologia , Feminino , Seguimentos , Humanos , Processamento de Imagem Assistida por Computador , Lactente , Imagem por Ressonância Magnética , Masculino , Estudos Retrospectivos
12.
Eur J Med Genet ; 61(2): 89-93, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29066376

RESUMO

Intellectual disability (ID) affects 1-2% of the general population and up to 50% of those with ID are estimated to have an underlying genetic cause. Next-generation sequencing provides an efficient means to identify the molecular causes of monogenic forms of ID. Here we present an 18 year old male with severe ID, absent speech, microcephaly, ataxia, dysmorphic facial features, and a refractory, early-onset seizure disorder. Exome sequencing revealed a rare de novo mutation in the X-linked gene RPL10 (c.232A > G, p.K78E). Previous reports of inherited mutations in RPL10 have suggested a role for the gene in neurodevelopment and the individual reported shows marked similarities to three members of a family with the same mutation reported in the literature. The p.K78E substitution appears to be associated with severe microcephaly, seizures, hearing loss, growth retardation, cardiac defects, and dysmorphic facial features. This is the first instance that a de novo mutation in RPL10 has been reported.


Assuntos
Epilepsia/genética , Deficiência Intelectual/genética , Microcefalia/genética , Mutação de Sentido Incorreto , Proteínas Ribossômicas/genética , Adolescente , Epilepsia/patologia , Exoma , Humanos , Deficiência Intelectual/patologia , Masculino , Microcefalia/patologia , Síndrome
13.
Epileptic Disord ; 19(3): 351-356, 2017 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-28832002

RESUMO

We report the case of an infant with KCNQ2-related neonatal epileptic encephalopathy presenting with intractable seizures beginning on the second day of life, which were resistant to multiple antiepileptic drugs. Continuous EEG recordings starting on the sixth day of life demonstrated a unique pattern of inter-and postictal focal rhythmic pointed theta waves of lambdoid morphology in the immediate postictal period, localizing to the side of the antecedent seizure. Interictal EEG exhibited discontinuous background, including patterns of burst suppression and multifocal discharges, predominantly in the centrotemporal regions, which were aggravated during sleep. MRI demonstrated T1 signal abnormalities in the basal ganglia, bilaterally. Genetic testing revealed a de novo missense mutation in KCNQ2 at position c.545 T>G, encoding a previously unreported substitution (p.Val182Gly). Seizure control was achieved immediately after starting a lidocaine infusion at age 4 weeks. The patient remained largely seizure-free following add-on oral carbamazepine for maintenance therapy and weaning off lidocaine. This is the first report of a patient with KCNQ2-related neonatal epileptic encephalopathy and therapy-refractory seizures aborted by lidocaine, demonstrating a unique EEG pattern of inter- and postictal focal rhythmic pointed theta waves. Whether this pattern could be an early EEG marker for this disorder remains to be confirmed. [Published with video sequences on www.epilepticdisorders.com].


Assuntos
Encéfalo/fisiopatologia , Canal de Potássio KCNQ2/genética , Espasmos Infantis/fisiopatologia , Anticonvulsivantes/uso terapêutico , Carbamazepina/uso terapêutico , Eletroencefalografia , Feminino , Humanos , Recém-Nascido , Lidocaína/uso terapêutico , Espasmos Infantis/tratamento farmacológico , Espasmos Infantis/genética , Resultado do Tratamento
14.
Neurology ; 89(9): 900-908, 2017 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-28768844

RESUMO

OBJECTIVE: To assess the prognostic value of MOG antibodies (abs) in the differential diagnosis of acquired demyelinating syndromes (ADS). METHODS: Clinical course, MRI, MOG-abs, AQP4-abs, and CSF cells and oligoclonal bands (OCB) in children with ADS and 24 months of follow-up were reviewed in this observational prospective multicenter hospital-based study. RESULTS: Two hundred ten children with ADS were included and diagnosed with acute disseminated encephalomyelitis (ADEM) (n = 60), neuromyelitis optica spectrum disorder (NMOSD) (n = 12), clinically isolated syndrome (CIS) (n = 101), and multiple sclerosis (MS) (n = 37) after the first episode. MOG-abs were predominantly found in ADEM (57%) and less frequently in NMOSD (25%), CIS (25%), or MS (8%). Increased MOG-ab titers were associated with younger age (p = 0.0001), diagnosis of ADEM (p = 0.005), increased CSF cell counts (p = 0.011), and negative OCB (p = 0.012). At 24-month follow-up, 96 children had no further relapses. Thirty-five children developed recurrent non-MS episodes (63% MOG-, 17% AQP4-abs at onset). Seventy-nine children developed MS (4% MOG-abs at onset). Recurrent non-MS episodes were associated with high MOG-ab titers (p = 0.0003) and older age at onset (p = 0.024). MS was predicted by MS-like MRI (p < 0.0001) and OCB (p = 0.007). An MOG-ab cutoff titer ≥1:1,280 predicted a non-MS course with a sensitivity of 47% and a specificity of 100% and a recurrent non-MS course with a sensitivity of 46% and a specificity of 86%. CONCLUSIONS: Our results show that the presence of MOG-abs strongly depends on the age at disease onset and that high MOG-ab titers were associated with a recurrent non-MS disease course.


Assuntos
Encefalomielite Aguda Disseminada/imunologia , Esclerose Múltipla/imunologia , Glicoproteína Mielina-Oligodendrócito/sangue , Glicoproteína Mielina-Oligodendrócito/imunologia , Neuromielite Óptica/imunologia , Adolescente , Autoanticorpos , Biomarcadores/metabolismo , Criança , Pré-Escolar , Diagnóstico Diferencial , Progressão da Doença , Encefalomielite Aguda Disseminada/sangue , Encefalomielite Aguda Disseminada/líquido cefalorraquidiano , Encefalomielite Aguda Disseminada/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Lactente , Imagem por Ressonância Magnética , Masculino , Esclerose Múltipla/sangue , Esclerose Múltipla/líquido cefalorraquidiano , Esclerose Múltipla/diagnóstico por imagem , Neuromielite Óptica/sangue , Neuromielite Óptica/líquido cefalorraquidiano , Neuromielite Óptica/diagnóstico por imagem , Bandas Oligoclonais , Prognóstico , Estudos Prospectivos
15.
J Child Neurol ; 32(3): 301-307, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28193112

RESUMO

We describe the presenting features and long-term outcome of an unusual cluster of pediatric acute flaccid paralysis cases that occurred in Canada during the 2014 enterovirus D68 outbreak. Children (n = 25; median age 7.8 years) presenting to Canadian centers between July 1 and October 31, 2014, and who met diagnostic criteria for acute flaccid paralysis were evaluated retrospectively. The predominant presenting features included prodromal respiratory illness (n = 22), cerebrospinal fluid lymphocytic pleocytosis (n = 18), pain in neck/back (n = 14) and extremities (n = 10), bowel/bladder dysfunction (n = 9), focal central gray matter lesions found in all regions of the spinal cord within the cohort (n = 16), brain stem lesions (n = 8), and bulbar symptoms (n = 5). Enterovirus D68 was detectable in nasopharyngeal specimens (n = 7) but not in cerebrospinal fluid. Acute therapies (corticosteroids, intravenous immunoglobulins, plasmapheresis) were well tolerated with few side effects. Fourteen of 16 patients who were followed beyond 12 months post onset had neurologic deficits but showed ongoing clinical improvement and motor recovery.


Assuntos
Encéfalo/diagnóstico por imagem , Enterovirus Humano D , Infecções por Enterovirus/complicações , Paraplegia/terapia , Potenciais de Ação/fisiologia , Adolescente , Corticosteroides/uso terapêutico , Canadá , Criança , Pré-Escolar , Eletromiografia , Infecções por Enterovirus/fisiopatologia , Feminino , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Lactente , Masculino , Músculo Esquelético/fisiopatologia , Condução Nervosa/fisiologia , Paraplegia/diagnóstico por imagem , Paraplegia/tratamento farmacológico , Paraplegia/virologia , Plasmaferese , Estudos Retrospectivos , Resultado do Tratamento
16.
Neurology ; 87(9 Suppl 2): S103-9, 2016 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-27572854

RESUMO

Over the last 20 years, there have been significant advances in multiple sclerosis (MS) therapeutics, with regulatory approval for 13 therapies in adults by the European Medicines Agency (EMA) and Food and Drug Administration. However, there is only limited approval for interferon-ß and glatiramer acetate use in children 12 years and older by the EMA. Availability of disease-modifying therapies to children and adolescents with MS is variable by region, and is extremely limited in some regions of the world. Up to 30% of children experience breakthrough disease requiring therapies beyond traditional first-line agents. Recent legislation in both the United States and Europe has mandated clinical studies for all new therapeutics applicable to children. Several clinical trials in children are underway that will provide important information regarding the efficacy and safety of newer drugs. This review summarizes the current knowledge of breakthrough disease, escalation, and induction treatment approaches in children with MS, especially pertaining to disease course and disability outcomes in this group of patients. In addition, ongoing clinical trials and approaches and challenges in conducting clinical trials in the pediatric population are discussed.


Assuntos
Fatores Imunológicos/uso terapêutico , Esclerose Múltipla/tratamento farmacológico , Pediatria , Criança , Ensaios Clínicos como Assunto , Humanos , Esclerose Múltipla/psicologia , Resultado do Tratamento , Estados Unidos , United States Food and Drug Administration
17.
Neurology ; 87(9 Suppl 2): S110-6, 2016 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-27572855

RESUMO

The International Pediatric Multiple Sclerosis Study Group held its inaugural educational program, "The World of Pediatric MS: A Global Update," in September 2014 to discuss advances and challenges in the diagnosis and management of pediatric multiple sclerosis (MS) and other neuroinflammatory CNS disorders. Highlights included a discussion on the revised diagnostic criteria, which enable the differentiation of MS, acute disseminated encephalomyelitis, neuromyelitis optica, and other neuroinflammatory disorders. While these criteria currently identify clinical and MRI features for a particular diagnosis, advances in biomarkers may prove to be useful in the future. An update was also provided on environmental factors associated with pediatric MS risk and possibly outcomes, notably vitamin D deficiency. However, optimal vitamin D intake and its role in altering MS course in children have yet to be established. Regarding MS outcomes, our understanding of the cognitive consequences of early-onset MS has grown. However, further work is needed to define the course of cognitive function and its long-term outcome in diverse patient samples and to develop strategies for effective cognitive rehabilitation specifically tailored to children and adolescents. Finally, treatment strategies were discussed, including a need to consider additional drug treatment options and paradigms (escalation vs induction), although treatment should be tailored to the individual child. Of critical importance, clinical trials of newer MS agents in children are required. Although our understanding of childhood MS has improved, further research is needed to have a positive impact for children and their families.


Assuntos
Cooperação Internacional , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/terapia , Pediatria , Criança , Transtornos Cognitivos , Humanos , Esclerose Múltipla/complicações , Deficiência de Vitamina D/complicações
18.
Neurology ; 87(9 Suppl 2): S38-45, 2016 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-27572859

RESUMO

Acute disseminated encephalomyelitis (ADEM) is an immune-mediated demyelinating CNS disorder with predilection to early childhood. ADEM is generally considered a monophasic disease. However, recurrent ADEM has been described and defined as multiphasic disseminated encephalomyelitis. ADEM often occurs postinfectiously, although a causal relationship has never been established. ADEM and multiple sclerosis are currently viewed as distinct entities, generally distinguishable even at disease onset. However, pathologic studies have demonstrated transitional cases of yet unclear significance. ADEM is clinically defined by acute polyfocal neurologic deficits including encephalopathy. MRI typically demonstrates reversible, ill-defined white matter lesions of the brain and often also the spinal cord, along with frequent involvement of thalami and basal ganglia. CSF analysis may reveal a mild pleocytosis and elevated protein, but is generally negative for intrathecal oligoclonal immunoglobulin G synthesis. In the absence of a specific diagnostic test, ADEM is considered a diagnosis of exclusion, and ADEM mimics, especially those requiring a different treatment approach, have to be carefully ruled out. The role of biomarkers, including autoantibodies like anti-myelin oligodendrocyte glycoprotein, in the pathogenesis and diagnosis of ADEM is currently under debate. Based on the presumed autoimmune etiology of ADEM, the current treatment approach consists of early immunotherapy. Outcome of ADEM in pediatric patients is generally favorable, but cognitive deficits have been reported even in the absence of other neurologic sequelae. This review summarizes the current knowledge on epidemiology, pathology, clinical presentation, neuroimaging features, CSF findings, differential diagnosis, therapy, and outcome, with a focus on recent advances and controversies.


Assuntos
Encefalomielite Aguda Disseminada/diagnóstico , Encéfalo/diagnóstico por imagem , Encefalomielite Aguda Disseminada/líquido cefalorraquidiano , Encefalomielite Aguda Disseminada/epidemiologia , Encefalomielite Aguda Disseminada/terapia , Humanos , Neuroimagem , Resultado do Tratamento
19.
Neurology ; 87(9 Suppl 2): S74-81, 2016 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-27572865

RESUMO

Multiple sclerosis (MS) in children manifests with a relapsing-remitting MS (RRMS) disease course. Acute relapses consist of new neurologic deficits persisting greater than 24 hours, in the absence of intercurrent illness, and occur with a higher frequency early in the disease as compared to adult-onset RRMS. Most pediatric patients with MS recover well from these early relapses, and cumulative physical disability is rare in the first 10 years of disease. Brainstem attacks, poor recovery from a single attack, and a higher frequency of attacks portend a greater likelihood of future disability. Although prospective pediatric-onset MS cohorts have been established in recent years, there remains very limited prospective data detailing the longer-term clinical outcome of pediatric-onset MS into adulthood. Whether the advent of MS therapies, and the largely off-label access to such therapies in pediatric MS, has improved prognosis is unknown. MS onset during the key formative academic years, concurrent with active cognitive maturation, is an important determinant of long-term outcome, and is discussed in detail in another article in this supplement. Finally, increasing recognition of pediatric MS worldwide, recent launch of phase III trials for new agents in the pediatric MS population, and the clear imperative to more fully appreciate health-related quality of life in pediatric MS through adulthood highlight the need for standardized, validated, and robust outcome measures.


Assuntos
Esclerose Múltipla/diagnóstico , Esclerose Múltipla/terapia , Pediatria , Resultado do Tratamento , Criança , Humanos , Esclerose Múltipla/epidemiologia
20.
Neurology ; 87(9 Suppl 2): S8-S11, 2016 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-27572866

RESUMO

In light of the published 2012 International Pediatric Multiple Sclerosis Group definitions for pediatric multiple sclerosis (MS) and related disorders and given that pediatric-onset MS is now formally included in the 2010 McDonald criteria for MS, we sought to review these criteria and summarize their application in children with acquired CNS demyelination. In addition, proposals are made for definitions of no evidence of disease activity and inadequate treatment response that are important because of new therapeutic options and trials.


Assuntos
Consenso , Doenças Desmielinizantes/diagnóstico , Esclerose Múltipla/diagnóstico , Pediatria/normas , Humanos
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