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Non-epileptic seizure and autistic

Jessie M Cameron, Valeriy Levandovskiy, Wendy Roberts, Evdokia Anagnostou, Stephen Scherer, Alvin Loh, Andreas Schulze
Creatine deficiency syndrome (CDS) comprises three separate enzyme deficiencies with overlapping clinical presentations: arginine:glycine amidinotransferase (GATM gene, glycine amidinotransferase), guanidinoacetate methyltransferase (GAMT gene), and creatine transporter deficiency (SLC6A8 gene, solute carrier family 6 member 8). CDS presents with developmental delays/regression, intellectual disability, speech and language impairment, autistic behaviour, epileptic seizures, treatment-refractory epilepsy, and extrapyramidal movement disorders; symptoms that are also evident in children with autism...
July 31, 2017: International Journal of Molecular Sciences
M B Mironov, M Yu Bobylova, I V Nekrasova, T M Krasilschikova, M M Gunchenko, M N Sarzhina, A S Petrukhin, S G Burd, T T Batisheva
AIM: To study neurologic status, results of video-EEG monitoring and magnetic resonance imaging in children under 3 years old with paroxysms of tonic muscle tension. MATERIAL AND METHODS: One hundred and forty-six infants and young children with motor disturbances and different variants of clinically similar epileptic seizures, hyperkinesis and stereotypes were examined. RESULTS AND CONCLUSION: Cerebral palsy (91%), genetic and chromosomal abnormalities (6%), brain malformations (2%) were identified...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Barbara Greco, Francesca Managò, Valter Tucci, Hung-Teh Kao, Flavia Valtorta, Fabio Benfenati
Several synaptic genes predisposing to autism-spectrum disorder (ASD) have been identified. Nonsense and missense mutations in the SYN1 gene encoding for Synapsin I have been identified in families segregating for idiopathic epilepsy and ASD and genetic mapping analyses have identified variations in the SYN2 gene as significantly contributing to epilepsy predisposition. Synapsins (Syn I/II/III) are a multigene family of synaptic vesicle-associated phosphoproteins playing multiple roles in synaptic development, transmission and plasticity...
August 15, 2013: Behavioural Brain Research
Annamaria Chilosi, Manuela Casarano, Alessandro Comparini, Francesca Maria Battaglia, Margherita Maria Mancardi, Cristina Schiaffino, Michela Tosetti, Vincenzo Leuzzi, Roberta Battini, Giovanni Cioni
BACKGROUND: SLC6A8, an X-linked gene, encodes the creatine transporter (CRTR) and its mutations lead to cerebral creatine (Cr) deficiency which results in mental retardation, speech and language delay, autistic-like behaviour and epilepsy (CRTR-D, OMIM 300352). CRTR-D represents the most frequent Cr metabolism disorder but, differently from Cr synthesis defects, that are partially reversible by oral Cr supplementation, does not respond to Cr treatment even if precociously administrated...
2012: Orphanet Journal of Rare Diseases
Ana Camacho, Rogelio Simón, Raúl Sanz, Antonio Viñuela, Antonio Martínez-Salio, Fernando Mateos
Mutation in the protocadherin 19 (PCDH19) gene is an increasingly recognized cause of epilepsy in females. This disorder is frequently associated with mental retardation and psychiatric features. We describe two unrelated females with novel PCDH19 missense mutations. One was de novo, and the other was inherited from her unaffected father. Both had mild mental impairment but had remarkable behavioral problems. We reviewed the cognitive and behavioral profiles of previously reported PCDH19-positive cases. Intellectual disability appeared in 75% of patients, ranging from borderline to severe...
May 2012: Epilepsy & Behavior: E&B
Mariëtte J Bos, Al W de Weerd, Eveline E O Hagebeuk
Behavioural episodes of staring in children are difficult to distinguish from epileptic seizures, especially in children with developmental disorders such as ADHD, autism spectrum disorders and intellectual disabilities. We discuss two patients with staring episodes who were using anti-epileptic drugs. In both patients, EEG with video monitoring showed that the staring was non-epileptic. The first is an 8-year-old boy, who developed severe motor problems and ataxia during treatment with valproate. His staring episodes were behavioural, caused by his intellectual disability, and the motor problems resolved after discontinuation of valproate...
2011: Nederlands Tijdschrift Voor Geneeskunde
Juan J García-Peñas
INTRODUCTION: Learning disorders are very frequent among children with epilepsy. The etiology is multifactorial, being affected by the type of epileptic syndrome, the cause of epilepsy, a high frequency of epileptic seizures, a previous history of status epilepticus, the age of onset of epilepsy, the antiepileptic treatment being selected, and the role of interictal epileptiform discharges. Several studies have sought to analyze to what extent cognitive impairment can be attributed to interictal epileptiform discharges among the other epilepsy factors...
March 1, 2011: Revista de Neurologia
Ozlem Unal, Ozlem Ozcan, Ozgür Oner, Melda Akcakin, Ayla Aysev, Gülhis Deda
BACKGROUND: The diagnostic category pervasive developmental disorders (PDDs) refer to a group of five disorders: autism, Rett syndrome, childhood disintegrative disorder, Asperger syndrome, and pervasive developmental disorder not otherwise specified (PDD-NOS). EEG abnormalities and seizures are considered much frequent in autistic subjects with comorbid intellectual disability (ID). In this study, we aimed to evaluate the EEG and MRI findings and their relation with ID in pervasive developmental disorder...
August 2009: World Journal of Pediatrics: WJP
H Hjiej, C Doyen, C Couprie, K Kaye, Y Contejean
INTRODUCTION: Autism is a developmental disorder that requires specialized therapeutic approaches. Influenced by various theoretical hypotheses, therapeutic programs are typically structured on a psychodynamic, biological or educative basis. Presently, educational strategies are recommended in the treatment of autism, without excluding other approaches when they are necessary. Some authors recommend dietetic or complementary approaches to the treatment of autism, which often stimulates great interest in the parents but also provokes controversy for professionals...
October 2008: L'Encéphale
M Ozlem Hergüner, Faruk Incecik, Sakir Altunbaşak, Nurcihan Kiriş
Continuous spikes and waves during slow sleep syndrome is characterized by the presence of spike-and-wave discharges in at least 85% of non-rapid eye movement sleep. Associated clinical features vary. Here, features of 10 patients with this syndrome are compared to those in the literature. Patients ranged in age from 4 to 11 years. All patients had predominantly nocturnal partial motor or generalized tonic-clonic seizures; four patients also had daily atonic seizures. All 10 patients had different degrees of neuropsychologic disturbances: 9 patients had low intelligence quotient scores (the 10th, diagnosed attention deficit and hyperactivity disorder, had normal intelligence quotient score); 4 patients had autistic-like features...
June 2008: Pediatric Neurology
Hana Oslejskova, Ladislav Dusek, Zuzana Makovska, Ivan Rektor
The aim of this study was to categorize speech problems in autistic children in a manner allowing recognition of associated risk factors. We were specifically interested in the role of epilepsy and epileptiform activity in EEG in autistic patients since these dynamic processes can influence each other. We combined subtypes of autism with degrees of their functionality and we selected three speech endpoints: i) delayed development of speech, ii) complete mutism and iii) regression of speech. We retrospectively examined 205 autistic children (boys 145/70...
December 2007: Epileptic Disorders: International Epilepsy Journal with Videotape
Hitoshi Hara
So-called "idiopathic" autism, which exhibited no major complications before diagnosis is well-known as one of the risk factors for epilepsy. This retrospective follow-up study aimed to clarify the characteristics of epilepsy in the autism; onset of seizure, seizure types, EEG findings and epilepsy outcome and the differences as a group between the autism with epilepsy and those without epilepsy. One hundred thirty individuals with autistic disorder or atypical autism diagnosed in childhood were followed up over 10 years and were evaluated almost every year up to 18-35 years of age...
September 2007: Brain & Development
John Stephenson, Galen Breningstall, Chris Steer, Martin Kirkpatrick, Iain Horrocks, Alla Nechay, Sameer Zuberi
Occasionally, but more often than has been reported, true epileptic seizures are triggered by non-epileptic syncopes. This combination of syncope and epileptic seizure has been called an anoxic-epileptic seizure. A few examples of such anoxic-epileptic seizures, including the induction of status epilepticus, have been reported in books and medical journals, but no video-recordings have been published. We show here home video recordings of the first three known examples of the transition from the triggering syncope and anoxic seizure, to the subsequent epileptic seizure...
March 2004: Epileptic Disorders: International Epilepsy Journal with Videotape
I Alfonso, J S Hahn, O Papazian, Y L Martinez, M A Reyes, J Aicardi
We report an electroclinical pattern considered characteristic of benign familial neonatal convulsions (BFNC) in two neonates without BFNC. Both neonates were products of uncomplicated pregnancies, labor, and deliveries. The cause of the seizures was not established. There was no family history of seizures or epilepsy. Seizures started on the second and third days after birth. Ten seizures were captured by continuous video-EEG telemetry. The electroclinical events began with generalized tonic posturing coinciding with the appearance of diffuse attenuation of the EEG activity...
April 1997: Pediatric Neurology
R Fahsold, H D Rott, U Claussen, B Schmalenberger
We report on an 8-year-old boy with severe mental retardation, epileptic seizures, autistic behaviour, and X-ray CT findings of the skull characteristics for tuberous sclerosis. At the age of 9 years, first signs of adenoma sebaceum developed. Chromosomal analysis revealed a translocation t(3;12)(p26.3;q23.3). The parents were both healthy and had normal karyotypes. As non-random association of a chromosomal abnormality and tuberous sclerosis is hypothesized, a third locus for this disorder on 3p26 or 12q23 has to be taken in account...
October 1991: Clinical Genetics
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