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https://www.readbyqxmd.com/read/28814540/autism-spectrum-disorder-in-fragile-x-syndrome-cooccurring-conditions-and-current-treatment
#1
Walter E Kaufmann, Sharon A Kidd, Howard F Andrews, Dejan B Budimirovic, Amy Esler, Barbara Haas-Givler, Tracy Stackhouse, Catharine Riley, Georgina Peacock, Stephanie L Sherman, W Ted Brown, Elizabeth Berry-Kravis
BACKGROUND AND OBJECTIVE: Individuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes from family surveys and small studies. The objective of this study was to examine the impact of the ASD diagnosis in a large clinic-based FXS population to better inform the care of people with FXS. METHODS: The study employed a data set populated by data from individuals with FXS seen at specialty clinics across the country...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28804898/epilepsy-surgery-of-low-grade-epilepsy-associated-neuroepithelial-tumors-a-retrospective-nationwide-italian-study
#2
Marco Giulioni, Gianluca Marucci, Veronica Pelliccia, Francesca Gozzo, Carmen Barba, Giuseppe Didato, Flavio Villani, Giancarlo Di Gennaro, Pier Paolo Quarato, Vincenzo Esposito, Alessandro Consales, Matteo Martinoni, Gianfranco Vornetti, Corrado Zenesini, Carlo Efisio Marras, Nicola Specchio, Luca De Palma, Raffaele Rocchi, Flavio Giordano, Giovanni Tringali, Paolo Nozza, Gabriella Colicchio, Guido Rubboli, Giorgio Lo Russo, Renzo Guerrini, Paolo Tinuper, Francesco Cardinale, Massimo Cossu
OBJECTIVE: To analyze the attitude and results of Italian epilepsy surgery centers in the surgical management of "low grade epilepsy associated neuroepithelial tumors" (LEATs). METHODS: We conducted a retrospective study enrolling 339 consecutive patients with LEATs who underwent surgery between January 2009 and June 2015 at eight Italian epilepsy surgery centers. We compared demographic, clinical, pathologic, and surgical features of patients with favorable (Engel class I) and unfavorable (Engel class II, III, and IV) seizure outcome...
August 14, 2017: Epilepsia
https://www.readbyqxmd.com/read/28783808/recrudescence-of-deficits-after-stroke-clinical-and-imaging-phenotype-triggers-and-risk-factors
#3
Mehmet A Topcuoglu, Esen Saka, Scott B Silverman, Lee H Schwamm, Aneesh B Singhal
Importance: Reemergence of previous stroke-related deficits (or poststroke recrudescence [PSR]) is an underrecognized and inadequately characterized phenomenon. Objective: To investigate the clinical features, triggers, and risk factors for PSR. Design, Setting, and Participants: This retrospective study incorporated a crossover cohort study to identify triggers and a case-control study to identify risk factors. The study used the Massachusetts General Hospital Research Patient Data Repository to identify patients for the period January 1, 2000, to November 30, 2015, who had a primary or secondary diagnosis of cerebrovascular disease, who underwent magnetic resonance imaging of the brain at least once, and whose inpatient or outpatient clinician note or discharge summary stated the term recrudescence...
August 7, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28768851/underestimation-of-sudden-deaths-among-patients-with-seizures-and-epilepsy
#4
Orrin Devinsky, Daniel Friedman, Jocelyn Y Cheng, Ellen Moffatt, Anthony Kim, Zian H Tseng
OBJECTIVE: To determine the definite and potential frequency of seizures and epilepsy as a cause of death (COD) and how often this goes unrecognized. METHODS: Prospective determination of seizures or epilepsy and final COD for individuals aged 18-90 years with out-of-hospital sudden cardiac deaths (SCDs) from the population-based San Francisco POST SCD Study. We compared prospective seizure or epilepsy diagnosis and final COD as adjudicated by a multidisciplinary committee (pathologists, electrophysiologists, and a vascular neurologist) vs retrospective adjudication by 2 epileptologists with expertise in seizure-related mortality...
August 2, 2017: Neurology
https://www.readbyqxmd.com/read/28762041/neuroinfluenza-evaluation-of-seasonal-influenza-associated-severe-neurological-complications-in-children-a-multicenter-study
#5
Muhammet Sukru Paksu, Kerim Aslan, Tanil Kendirli, Basak Nur Akyildiz, Nazik Yener, Riza Dincer Yildizdas, Mehmet Davutoglu, Ayhan Yaman, Sedat Isikay, Gulnar Sensoy, Haydar Ali Tasdemir
PURPOSE: Although influenza primarily affects the respiratory system, in some cases, it can cause severe neurological complications. Younger children are especially at risk. Pediatric literature is limited on the diagnosis, treatment, and prognosis of influenza-related neurological complications. The aim of the study was to evaluate children who suffered severe neurological manifestation as a result of seasonal influenza infection. METHODS: The medical records of 14 patients from six hospitals in different regions of the country were evaluated...
July 31, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28745672/-gender-aspects-of-medico-social-adaptation-in-adults-with-early-onset-of-epilepsy
#6
O V Grebenyuk, T V Kazennykh, V M Alifirova, M V Svetlik, N A Bokhan
AIM: To study the relationship between indicators of clinical picture and social adaptation in idiopathic and symptomatic epilepsies with onset before adulthood depending on patient's gender. MATERIAL AND METHODS: The cross-sectional study was carried out. The study group included 212 women and 171 men, aged 24-60 years, with confirmed diagnosis of epilepsy with onset before 18 years. Seventy-three patients were diagnosed with symptomatic epilepsy, 310 with idiopathic epilepsy...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28712537/efficacy-and-safety-of-voretigene-neparvovec-aav2-hrpe65v2-in-patients-with-rpe65-mediated-inherited-retinal-dystrophy-a-randomised-controlled-open-label-phase-3-trial
#7
Stephen Russell, Jean Bennett, Jennifer A Wellman, Daniel C Chung, Zi-Fan Yu, Amy Tillman, Janet Wittes, Julie Pappas, Okan Elci, Sarah McCague, Dominique Cross, Kathleen A Marshall, Jean Walshire, Taylor L Kehoe, Hannah Reichert, Maria Davis, Leslie Raffini, Lindsey A George, F Parker Hudson, Laura Dingfield, Xiaosong Zhu, Julia A Haller, Elliott H Sohn, Vinit B Mahajan, Wanda Pfeifer, Michelle Weckmann, Chris Johnson, Dina Gewaily, Arlene Drack, Edwin Stone, Katie Wachtel, Francesca Simonelli, Bart P Leroy, J Fraser Wright, Katherine A High, Albert M Maguire
BACKGROUND: Phase 1 studies have shown potential benefit of gene replacement in RPE65-mediated inherited retinal dystrophy. This phase 3 study assessed the efficacy and safety of voretigene neparvovec in participants whose inherited retinal dystrophy would otherwise progress to complete blindness. METHODS: In this open-label, randomised, controlled phase 3 trial done at two sites in the USA, individuals aged 3 years or older with, in each eye, best corrected visual acuity of 20/60 or worse, or visual field less than 20 degrees in any meridian, or both, with confirmed genetic diagnosis of biallelic RPE65 mutations, sufficient viable retina, and ability to perform standardised multi-luminance mobility testing (MLMT) within the luminance range evaluated, were eligible...
July 13, 2017: Lancet
https://www.readbyqxmd.com/read/28704875/sonographic-and-doppler-sonographic-diagnosis-of%C3%A2-neonatal-ischemic-stroke
#8
Karl-Heinz Deeg
Children are particularly at risk for stroke in the neonatal period. 1/3 of all strokes in children occur during the perinatal period. The incidence of perinatal stroke is 1:4000. A differentiation is made between ischemic stroke and hemorrhagic stroke. Ischemic strokes are caused by arterial occlusion due to thrombosis or embolism. As a result of the nonspecific clinical symptoms in this age group, diagnosis is usually made too late. The only relatively specific symptom is focal cerebral seizure during the first week of life...
August 2017: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/28653176/amino-acid-synthesis-deficiencies
#9
REVIEW
T J de Koning
In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the associated clinical phenotypes have also expanded spectacularly, primarily due to the advances of next generation sequencing diagnostics. In contrast to the "classical" inborn errors of metabolism in catabolic pathways, in which elevated levels of metabolites are easily detected in body fluids, synthesis defects present with low values of metabolites or, confusingly, even completely normal levels of amino acids...
July 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28628467/juvenile-and-adult-onset-systemic-lupus-erythematosus-a-comparative-study-in-a-large-cohort-from-the-spanish-society-of-rheumatology-lupus-registry-relesser
#10
Vicenç Torrente-Segarra, Tarek Carlos Salman Monte, Iñigo Rúa-Figueroa, Fernando Sánchez-Alonso, Francisco Javier López-Longo, María Galindo-Izquierdo, Jaime Calvo-Alén, Alejandro Olivé-Marqués, Jesús Ibañez-Ruán, Loreto Horcada, Ana Sánchez-Atrio, Carlos Montilla, Rafael Benito Melero González, Elvira Díez-Álvarez, Victor Martinez-Taboada, José Luis Andreu, Olaia Fernández-Berrizbeitia, José Ángel Hernández-Beriain, Marian Gantes, Blanca Hernández-Cruz, Ángela Pecondón-Español, Carlos Marras, Gema Bonilla, José M Pego-Reigosa
OBJECTIVES: We aimed to describe juvenile-onset systemic lupus erythematosus (jSLE) features and to establish its differences compared to adult-onset SLE (aSLE) from a large national database. METHODS: Data from patients (≥4 ACR criteria) included in Spanish Society of Rheumatology Lupus Registry (RELESSER) were analysed. Sociodemographic, clinical, serological, activity, treatment, cumulative damage, comorbidities and severity data were collected. Patients with disease onset <18 years were described and compared to those with disease onset ≥18 years...
June 12, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28624716/seizure-related-hospital-admissions-readmissions-and-costs-comparisons-with-asthma-and-diabetes-in-south-australia
#11
Michelle L Bellon, Christopher Barton, Nikki McCaffrey, Denise Parker, Claire Hutchinson
PURPOSE: Seizures are listed as an Ambulatory Care Sensitive Condition (ACSC), where, in some cases, hospitalisation may be avoided with appropriate preventative and early management in primary care. We examined the frequencies, trends and financial costs of first and subsequent seizure-related hospital admissions in the adult and paediatric populations, with comparisons to bronchitis/asthma and diabetes admissions in South Australia between 2012 and 2014. METHODS: De-identified hospital separation data from five major public hospitals in metropolitan South Australia were analysed to determine the number of children and adults admitted for the following Australian Refined Diagnosis Related Groups: seizure related conditions; bronchitis/asthma; and diabetes...
June 10, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28623751/epilepsy-and-stigmatization-in-turkey
#12
Ozge Doganavsargil-Baysal, Buket Cinemre, Yesim Senol, Ebru Barcin, Zehra Gokmen
Patients with epilepsy experience stigmatization quite often. Studies investigating stigmatization perceived by patients with epilepsy in Turkey are limited in number. In this study, we aimed to understand the relationship between stigmatization and psychopathology and also to identify the effects of stigmatization on the quality of life in epilepsy. Patients completed a socio-demographical data form and epilepsy information form. They were evaluated in terms of psychiatric diagnosis using SCID I and they were asked to complete SCL-90 R, Epilepsy Stigmatization Scale and SF 36...
June 14, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28619360/further-delineation-of-cog8-cdg-a-case-with-novel-compound-heterozygous-mutations-diagnosed-by-targeted-exome-sequencing
#13
Aram Yang, Sung Yoon Cho, Ja-Hyun Jang, Jinsup Kim, Sook Za Kim, Beom Hee Lee, Han-Wook Yoo, Dong-Kyu Jin
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inherited metabolic disorders with highly variable clinical presentations caused by deficient glycosylation of proteins and/or lipids. CDG-IIh is a very rare subgroup of CDG caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8, and so far, only two cases have been reported in the medical literature. Here, we describe an 8-year-old Korean boy with psychomotor retardation, hypotonia, failure to thrive, elevated serum liver enzymes, microcephaly, and talipes equinovarus...
June 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28605627/impaired-responsibility-dimension-of-self-esteem-of-brazilian-adolescents-with-epilepsy
#14
Nathália F Siqueira, Fernando L B B Oliveira, Elisabete Abib Pedroso de Souza
This study aimed to compare the self-esteem of Brazilian adolescents with epilepsy and Brazilian adolescents without this condition and the correlations between self-esteem of these adolescents with depression and anxiety symptoms. Study participants were 101 adolescents of both sexes, aged 10-19years old, from elementary and high school education. Fifty patients diagnosed with uncomplicated epilepsy attending the pediatric epilepsy clinic of University Hospital composed the case group. The other fifty-one adolescents without this diagnosis were attending public schools in Campinas-SP region...
June 9, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28604555/immune-related-neurological-symptoms-in-an-adolescent-patient-receiving-the-checkpoint-inhibitor-nivolumab
#15
Dmitry Tchapyjnikov, Alexandra J Borst
Immune checkpoint inhibitors are a novel group of immunotherapeutic agents for the treatment of cancer. Immune-related adverse events, including neurological symptoms, have been associated with these agents. We present the case of an adolescent with refractory Hodgkin lymphoma treated with nivolumab, a PD1 inhibitor, who developed Hashimoto thyroiditis, posterior reversible encephalopathy syndrome causing seizures, as well as urinary retention, truncal/appendicular spasticity, dysphagia, and a progressive encephalopathy that was clinically consistent with a diagnosis of progressive encephalopathy with rigidity and myoclonus, a stiff-person-syndrome spectrum disorder...
June 9, 2017: Journal of Immunotherapy
https://www.readbyqxmd.com/read/28575766/increased-odds-and-predictive-rates-of-mmpi-2-rf-scale-elevations-in-patients-with-psychogenic-non-epileptic-seizures-and-observed-sex-differences
#16
Victor A Del Bene, Miguel Arce Rentería, Moshe Maiman, Mitch Slugh, Deana M Gazzola, Siddhartha S Nadkarni, William B Barr
OBJECTIVE: The Minnesota Multiphasic Personality Inventory-2-Restructured Form (MMPI-2-RF) is a self-report instrument, previously shown to differentiate patients with epileptic seizures (ES) and psychogenic non-epileptic seizures (PNES). At present, the odds of MMPI-2-RF scale elevations in PNES patients, as well as the diagnostic predictive value of such scale elevations, remain largely unexplored. This can be of clinical utility, particularly when a diagnosis is uncertain. METHOD: After looking at mean group differences, we applied contingency table derived odds ratios to a sample of ES (n=92) and PNES (n=77) patients from a video EEG (vEEG) monitoring unit...
May 30, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28557061/classification-of-involuntary-movements-in-dogs-myoclonus-and-myotonia
#17
REVIEW
M Lowrie, L Garosi
Myoclonus is a sudden brief, involuntary muscle jerk. Of all the movement disorders, myoclonus is the most difficult to encapsulate into any simple framework. On the one hand, a classification system is required that is clinically useful to aid in guiding diagnosis and treatment. On the other hand, there is need for a system that organizes current knowledge regarding biological mechanisms to guide scientific research. These 2 needs are distinct, making it challenging to develop a robust classification system suitable for all purposes...
July 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28464288/electroclinical-findings-of-minor-motor-events-during-sleep-in-temporal-lobe-epilepsy
#18
Loretta Giuliano, Denise Uccello, Daniela Fatuzzo, Greta Mainieri, Mario Zappia, Vito Sofia
OBJECTIVE: It is well known that sleep-related motor seizures can originate from the temporal lobe. However, little is known about the clinical features of minor motor manifestations during sleep in patients with temporal lobe epilepsy. The main objective of our study was to verify the existence of minor motor events during sleep in patients with mesial temporal lobe epilepsy (MTLE) and to define their clinical features and electroencephalography (EEG) correlations. METHODS: We enrolled in the study patients with diagnosis of symptomatic MTLE and a group of healthy controls...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28412316/differentiating-stroke-and-seizure-in-acute-setting-perfusion-computed-tomography
#19
Katarzyna Kubiak-Balcerewicz, Urszula Fiszer, Ewa Nagańska, Cezary Siemianowski, Aleksander Sobieszek, Agnieszka Witak-Grzybowska, Aldona Kosińska-Szot
BACKGROUND: Perfusion computed tomography (PCT) is part of acute stroke protocol in many hospitals; however, its clinical utility is still being disputed. Beyond its use in core and penumbra estimation, there is also a question about PCT role in stroke mimics diagnosis. Case series or small, retrospective studies showed equivocal results. This is the first published prospective, comparative study on PCT in differentiating stroke and seizure in acute setting. METHODS: Patients with acute focal neurologic deficits and without acute ischemic lesions on routine CT underwent PCT and electroencephalography (EEG) within 12 hours after symptom onset...
April 13, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28332073/aicardi-gouti%C3%A3-res-syndrome-unusual-neuro-radiological-manifestations
#20
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Shaimaa A Mohammad, Sherif F Abdel-Ghafar, Doaa R Soliman, Hala T El-Bassyouni, Laila Effat, Maha S Zaki
Aicardi-Goutières syndrome (AGS) is one of the expanding group of inherited congenital infection like syndromes. Here, we describe the detailed clinical and imaging findings of two sibs with AGS. Each shows scattered periventricular intracranial calcifications, severe global delay, seizures, microcephaly and spasticity. Interestingly, chilblains were observed in the two sisters as well as their parents and a paternal uncle. The brain MRI of the older sister showed marked ventricular dilatation as a result of unusual associated porencephalic cysts...
June 2017: Metabolic Brain Disease
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