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Epilepsy, autism, ADHD

Gerasimos Kolaitis, Christian G Bouwkamp, Alexia Papakonstantinou, Ioanna Otheiti, Maria Belivanaki, Styliani Haritaki, Terpsihori Korpa, Zinovia Albani, Elena Terzioglou, Polyxeni Apostola, Aggeliki Skamnaki, Athena Xaidara, Konstantina Kosma, Sophia Kitsiou-Tzeli, Maria Tzetis
BACKGROUND: This is a case with multiple chromosomal aberrations which are likely etiological for the observed psychiatric phenotype consisting of attention deficit hyperactivity and conduct disorders. CASE PRESENTATION: We report on an 11 year-old boy, admitted to the pediatric hospital for behavioral difficulties and a delayed neurodevelopmental trajectory. A cytogenetic analysis and high-resolution microarray comparative genomic hybridization (CGH) analysis was performed...
2016: Child and Adolescent Psychiatry and Mental Health
George Mihai Bădescu, Mădălina Fîlfan, Raluca Elena Sandu, Roxana Surugiu, Ovidiu Ciobanu, Aurel Popa-Wagner
Neurodevelopmental disorders such as attention deficit hyperactivity disorder and autism represent a significant economic burden, which justify vigorous research to uncover its genetics and developmental clinics for a diagnostic workup. The urgency of addressing attention deficit hyperactivity disorder comorbidities is seen in the chilling fact that attention deficit hyperactivity disorder (ADHD), mood disorders, substance use disorders and obesity each increase the risk for mortality. However, data about comorbidity is mainly descriptive, with mechanistic studies limited to genetic epidemiological studies that document shared genetic risk factors among these conditions...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
E Heyde, M Dhar, H Hellemans, E Schoentjes, D Van West
BACKGROUND: Very little information is available concerning the prevalence of the use of medication for treatment of individuals with autism spectrum disorder (ASD), particularly in European countries. Earlier studies have shown that a large number of patients with ASD use at least one psychoactive drug and that the numbers are increasing. Even in the nineties, studies suggested that the frequent use of psychoactive medication was widespread, although at the time there were only limited grounds for this assumption...
2016: Tijdschrift Voor Psychiatrie
Frank Besag, Giuseppe Gobbi, Albert Aldenkamp, Rochelle Caplan, David W Dunn, Matti Sillanpää
The categorisation of the childhood epilepsies into a number of different syndromes has allowed greater insight into the prognosis, not only with regard to seizure control but also in relation to cognitive and behavioural outcome. The role of genetics in determining both the syndrome and the behavioural outcome remains promising, although the promise is still largely unfulfilled. The behavioural/psychiatric outcome of a selection of the large number of childhood epilepsy syndromes is presented. The rate of autism in West syndrome, particularly in children who have tuberous sclerosis with temporal tubers, is high...
May 16, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Hanshu Zhao, Karen E Carney, Lindsay Falgoust, Jullie W Pan, Dandan Sun, Zhongling Zhang
Epilepsy is a common central nervous system (CNS) disease characterized by recurrent transient neurological events occurring due to abnormally excessive or synchronous neuronal activity in the brain. The CNS is affected by systemic acid-base disorders, and epileptic seizures are sensitive indicators of underlying imbalances in cellular pH regulation. Na(+)/H(+) exchangers (NHEs) are a family of membrane transporter proteins actively involved in regulating intracellular and organellar pH by extruding H(+) in exchange for Na(+) influx...
March 2016: Progress in Neurobiology
Kenshi Takechi, Katsuya Suemaru, Takeshi Kiyoi, Akihiro Tanaka, Hiroaki Araki
Epilepsy is associated with several psychiatric disorders, including cognitive impairment, autism and attention deficit/hyperactivity disorder (ADHD). However, the psychopathology of epilepsy is frequently unrecognized and untreated in patients. In the present study, we investigated the effects of ABT-418, a neuronal nicotinic acetylcholine receptor agonist, on pentylenetetrazol (PTZ)-kindled mice with behavioral and motor abnormalities. PTZ-kindled mice displayed impaired motor coordination (in the rotarod test), anxiety (in the elevated plus maze test) and social approach impairment (in the three-chamber social test) compared with control mice...
March 15, 2016: European Journal of Pharmacology
J-A Micoulaud-Franchi, A McGonigal, R Lopez, C Daudet, I Kotwas, F Bartolomei
The technique of electroencephalographic neurofeedback (EEG NF) emerged in the 1970s and is a technique that measures a subject's EEG signal, processes it in real time, extracts a parameter of interest and presents this information in visual or auditory form. The goal is to effectuate a behavioural modification by modulating brain activity. The EEG NF opens new therapeutic possibilities in the fields of psychiatry and neurology. However, the development of EEG NF in clinical practice requires (i) a good level of evidence of therapeutic efficacy of this technique, (ii) a good practice guide for this technique...
December 2015: Neurophysiologie Clinique, Clinical Neurophysiology
Roberto Canitano
Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders including autistic disorder, Asperger syndrome, and pervasive developmental disorder not otherwise specified as to Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. All these categories are grouped together in Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, classification under the category of Autism Spectrum Disorders.Behavioral disorders including irritability, attention-deficit/hyperactivity disorder (ADHD) symptoms, and aggression are additional symptoms found in up to 20% of children and adolescents with ASD and require careful evaluation for appropriate treatment...
September 2015: Clinical Neuropharmacology
Mitsuhiro Matsuo, Akiko Fuji, Tetsuo Matsuzaka, Hiroshi Baba, Keisuke Toda, Tomonori Ono, Shigeki Tanaka, Tatsuharu Sato, Hiroyuki Moriuchi
OBJECTIVE: To evaluate the long-term effects and tolerability of levetiracetam (LEV) in refractory epilepsy. METHODS: LEV was administered to 76 patients whose seizures were inadequately controlled by their current medications. The patients were followed for a minimum of 18 months but less than 2 years. The efficacy of LEV treatment was assessed retrospectively as the proportion of patients who experienced at least a 50% reduction in the frequency of seizures (50% RR), and adverse events were analyzed...
July 2015: No to Hattatsu. Brain and Development
Frank M C Besag
The controversies that have arisen in endeavoring to establish the nature of the relationships between autism and epilepsy might be summarized in a few simple questions, most of which do not yet have clear, complete answers. Does epilepsy cause autism? Does autism cause epilepsy? Are there underlying brain mechanisms that predispose to both conditions? What is the role of genetics in this regard? What is the importance of prenatal, perinatal, and postnatal environmental factors? Do any of the proposed relationships between autism and epilepsy provide insight into useful management or treatment? Is the prognosis of either autism or epilepsy different when the other condition is also present? What is the role of additional comorbidities, such as intellectual impairment or attention deficit hyperactivity disorder, in the relationship between the two conditions and in influencing treatment choices? From the evidence currently available, it would appear that epilepsy can rarely be the cause of autistic features but is not the cause of autism in most cases...
June 2015: Epilepsy & Behavior: E&B
Yuk Jing Loke, Anthony John Hannan, Jeffrey Mark Craig
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders characterized by problems with social communication, social interaction, and repetitive or restricted behaviors. ASD are comorbid with other disorders including attention deficit hyperactivity disorder, epilepsy, Rett syndrome, and Fragile X syndrome. Neither the genetic nor the environmental components have been characterized well enough to aid diagnosis or treatment of non-syndromic ASD. However, genome-wide association studies have amassed evidence suggesting involvement of hundreds of genes and a variety of associated genetic pathways...
2015: Frontiers in Neurology
J J L Berkvens, I Veugen, M J B M Veendrick-Meekes, F M Snoeijen-Schouwenaars, H J Schelhaas, M H Willemsen, I Y Tan, A P Aldenkamp
INTRODUCTION: Autism and behavioral characteristics in adults with Dravet syndrome (DS) have rarely been systematically studied. METHOD: Three scales were used to assess the outcomes of DS in adulthood in terms of autism and behavior. All the adult patients with DS, nine male and four female, aged between 18 and 60 years, living at the Epilepsy Center Kempenhaeghe in The Netherlands were included in the study. In addition, the past medical history of each patient was systematically screened for diagnoses like autism, Pervasive Development Disorder-Not Otherwise Specified (PDD-NOS), autism spectrum disorder (ASD), hyperactivity, Attention Deficit Hyperactivity Disorder (ADHD), and self-mutilation...
June 2015: Epilepsy & Behavior: E&B
Deepmala, John Slattery, Nihit Kumar, Leanna Delhey, Michael Berk, Olivia Dean, Charles Spielholz, Richard Frye
N-acetylcysteine (NAC) is recognized for its role in acetaminophen overdose and as a mucolytic. Over the past decade, there has been growing evidence for the use of NAC in treating psychiatric and neurological disorders, considering its role in attenuating pathophysiological processes associated with these disorders, including oxidative stress, apoptosis, mitochondrial dysfunction, neuroinflammation and glutamate and dopamine dysregulation. In this systematic review we find favorable evidence for the use of NAC in several psychiatric and neurological disorders, particularly autism, Alzheimer's disease, cocaine and cannabis addiction, bipolar disorder, depression, trichotillomania, nail biting, skin picking, obsessive-compulsive disorder, schizophrenia, drug-induced neuropathy and progressive myoclonic epilepsy...
August 2015: Neuroscience and Biobehavioral Reviews
Chunsong Yang, Zilong Hao, Ling-Li Zhang, Qin Guo
In recent years, acupuncture has increasingly being integrated into pediatric health care. It was used on ~150,000 children (0.2%). We aim to update the evidence for the efficacy and safety of acupuncture for children and evaluate the methodological qualities of these studies to improve future research in this area. We included 24 systematic reviews, comprising 142 randomized controlled trials (RCTs) with 12,787 participants. Only 25% (6/24) reviews were considered to be high quality (10.00 ± 0.63). High-quality systematic reviews and Cochrane systematic reviews tend to yield neutral or negative results (P = 0...
August 2015: Pediatric Research
Colin Reilly, Patricia Atkinson, Krishna B Das, Richard F Chin, Sarah E Aylett, Victoria Burch, Christopher Gillberg, Rod C Scott, Brian G R Neville
AIMS: To provide data on parent-reported features of developmental coordination disorder (DCD) and describe neurobehavioural comorbidity in children with epilepsy and DCD. METHOD: Eighty-five (74% of those eligible) children (44 males, 41 females; age range 5-15y) with active childhood epilepsy (an epileptic seizure in the last year and/or currently taking antiepileptic drugs) in a population-based cohort underwent comprehensive multidisciplinary assessment. The DCD Questionnaire (DCD-Q) was completed by parents (n=69) of children with an IQ>34, of whom 56 did not have cerebral palsy (CP), and were considered for a diagnosis of DCD...
September 2015: Developmental Medicine and Child Neurology
Michael Yoong
BACKGROUND: Neurobehavioral impairments such as learning difficulty, autism, attention deficit hyperactivity disorder (ADHD) and mood or behavioural problems are known to be increased in children with epilepsy; however, they remain under-recognised and often cause considerable morbidity. Quantitative neuroimaging techniques offer a potential avenue to improving our understanding of the underlying pathological basis for these disorders, aiding with diagnosis and risk stratification. METHODS: A systematic review was undertaken for original research articles involving magnetic resonance imaging in children with epilepsy and one or more neurobehavioural impairments...
April 2015: Quantitative Imaging in Medicine and Surgery
Martin Poot
Based on genomic rearrangements and copy number variations, the contactin-associated protein-like 2 gene (CNTNAP2) has been implicated in neurodevelopmental disorders such as Gilles de la Tourette syndrome, intellectual disability, obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, and attention deficit hyperactivity disorder. To explain the phenotypic pleiotropy of CNTNAP2 alterations, several hypotheses have been put forward. Those include gene disruption, loss of a gene copy by a heterozygous deletion, altered regulation of gene expression due to loss of transcription factor binding and DNA methylation sites, and mutations in the amino acid sequence of the encoded protein which may provoke altered interactions of the CNTNAP2-encoded protein, Caspr2, with other proteins...
February 2015: Molecular Syndromology
Devin M Cox, Merlin G Butler
Patients with the 15q11.2 BP1-BP2 microdeletion can present with developmental and language delay, neurobehavioral disturbances and psychiatric problems. Autism, seizures, schizophrenia and mild dysmorphic features are less commonly seen. The 15q11.2 BP1-BP2 microdeletion involving four genes (i.e., TUBGCP5, CYFIP1, NIPA1, NIPA2) is emerging as a recognized syndrome with a prevalence ranging from 0.57%-1.27% of patients presenting for microarray analysis which is a two to four fold increase compared with controls...
2015: International Journal of Molecular Sciences
Osamu Kanazawa
INTRODUCTION: Attention-deficit hyperactivity disorder is suggested to be closely related to epilepsy. A recent large-scale study revealed that ADHD in children is often accompanied by epilepsy. In Japan, methylphenidate (MPH) as a sustained-action tablet and atomoxetine (ATX) became commercially available as medications for children recently. Since then, the number of prescriptions of both medicines has increased rapidly. Methylphenidate, as a psychostimulant, has been a source of concern because of the perceived lowered threshold for convulsions in children...
December 2014: Epilepsy & Behavior: E&B
Ismael San Mauro Martín, Elena Garicano Vilar, Luis Collado Yurrutia, María José Ciudad Cabañas
INTRODUCTION: Gluten is a glycoprotein present in some cereals. The incidence of disorders related to gluten, including the EC, is increasing, even pathologies far from an etiology or treatment with GF D. AIMS: Review the scientific literature related to the ingestion of gluten and pathogenesis of different diseases. METHODS: A literature search in major scientific database. RESULTS: We obtained from the following diseases, gluten ataxia, multiple sclerosis, autism spectrum disorder, schizophrenia, attention deficit hyperactivity disorder, depressive disorders, headaches, irritable bowel syndrome, fibromyalgia, dermatitis herpetiformis and epilepsy, studies in which either a determination of gliadin was refered or a treatment, with/without gluten, was applied and evaluated...
2014: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
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