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https://www.readbyqxmd.com/read/29644487/therapeutic-use-of-carbohydrate-restricted-diets-in-an-autistic-child-a-case-report-of-clinical-and-18fdg-pet-findings
#1
Iwona Żarnowska, Beata Chrapko, Grażyna Gwizda, Anna Nocuń, Krystyna Mitosek-Szewczyk, Maciej Gasior
The ketogenic diet (KD) is a high-fat, adequate-protein, and low-carbohydrate diet that has been used successfully in the treatment of refractory epilepsies for almost 100 years. There has been accumulating evidence to show that the KD may provide a therapeutic benefit in autism spectrum disorders, albeit by a yet-unknown mechanism. We report a case of a 6-year-old patient with high-functioning autism and subclinical epileptic discharges who responded poorly to several behavioural and psychopharmacological treatments...
April 11, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29629500/altered-structural-brain-connectivity-involving-the-dorsal-and-ventral-language-pathways-in-16p11-2-deletion-syndrome
#2
Banu Ahtam, Naira Link, Erikson Hoff, P Ellen Grant, Kiho Im
Copy number variants at the chromosomal locus 16p11.2 contribute to neurodevelopmental disorders such as autism spectrum disorders, epilepsy, schizophrenia, and language and articulation disorders. Here, we provide detailed findings on the disrupted structural brain connectivity in 16p11.2 deletion syndrome (patients: N = 21, age range: 8-16 years; typically developing (TD) controls: 18, 9-16 years) using structural and diffusion MRI. We performed global short-, middle-, long-range, and interhemispheric connectivity analysis in the whole brain using gyral topology-based cortical parcellation...
April 9, 2018: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/29621484/rbfox1-regulates-synaptic-transmission-through-the-inhibitory-neuron-specific-vsnare-vamp1
#3
Celine K Vuong, Weizheng Wei, Ji-Ann Lee, Chia-Ho Lin, Andrey Damianov, Luis de la Torre-Ubieta, Reem Halabi, Klara Olofsdotter Otis, Kelsey C Martin, Thomas J O'Dell, Douglas L Black
Dysfunction of the neuronal RNA binding protein RBFOX1 has been linked to epilepsy and autism spectrum disorders. Rbfox1 loss in mice leads to neuronal hyper-excitability and seizures, but the physiological basis for this is unknown. We identify the vSNARE protein Vamp1 as a major Rbfox1 target. Vamp1 is strongly downregulated in Rbfox1 Nes-cKO mice due to loss of 3' UTR binding by RBFOX1. Cytoplasmic Rbfox1 stimulates Vamp1 expression in part by blocking microRNA-9. We find that Vamp1 is specifically expressed in inhibitory neurons, and that both Vamp1 knockdown and Rbfox1 loss lead to decreased inhibitory synaptic transmission and E/I imbalance...
April 4, 2018: Neuron
https://www.readbyqxmd.com/read/29607562/risk-factors-and-topographies-for-self-injurious-behaviour-in-a-sample-of-adults-with-intellectual-developmental-disorders
#4
A Folch, M J Cortés, L Salvador-Carulla, P Vicens, M Irazábal, S Muñoz, L Rovira, C Orejuela, J M Haro, E Vilella, R Martínez-Leal
BACKGROUND: Self-injurious behaviour (SIB) is a prevalent form of challenging behaviour in people with intellectual developmental disorders (IDD). Existing research has yielded conflicting findings concerning the major risk factors involved, and in addition, SIB shows multiple topographies and presentations. Although presence of autism spectrum disorders (ASD) and severity of intellectual disability (ID) are known risk factors for SIB, there are no studies comparing SIB topographies by severity degrees of ID and ASD...
April 1, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29603516/a-pigh-mutation-leading-to-gpi-deficiency-is-associated-with-developmental-delay-and-autism
#5
Thi Tuyet Mai Nguyen, Sonal Desai Mahida, Constance Smith-Hicks, Philippe M Campeau
We identified an individual with a homozygous missense variant (p.Ser103Pro) in a conserved residue of the GPI biosynthesis gene PIGH. This gene encodes an essential component of the phosphatidylinositol N-acetylglucosaminyltransferase complex, in the first step of the biosynthesis of glycosylphosphatidylinositol, a glycolipid anchor added to more than one hundred human proteins, several being critical for embryogenesis and neurological functions. The affected individual had hypotonia, moderate developmental delay, and autism...
March 30, 2018: Human Mutation
https://www.readbyqxmd.com/read/29599705/of-men-and-mice-modeling-the-fragile-x-syndrome
#6
Regina Dahlhaus
The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual disability in all human societies. Caused by the transcriptional silencing of a single gene, the fragile x mental retardation gene FMR1 , FXS is characterized by a variety of symptoms, which range from mental disabilities to autism and epilepsy. More than 20 years ago, a first animal model was described, the Fmr1 knock-out mouse. Several other models have been developed since then, including conditional knock-out mice, knock-out rats, a zebrafish and a drosophila model...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29588970/prevalence-risk-factors-and-neurobehavioral-comorbidities-of-epilepsy-in-kenyan-children
#7
Charles J Kind, Charles R J C Newton, Symon M Kariuki
Objective: To investigate the prevalence, risk factors, clinical features, and neurobehavioral comorbidities of epilepsy and acute symptomatic seizures in school-aged children in Kilifi, Kenya. Methods: Randomly selected children (N = 11,223) were screened for epilepsy and other neurodevelopmental disorders. Those who screened positive were invited for further clinical, electroencephalographic (EEG), and neuropsychological evaluations. Prevalence was measured by dividing cases by screened population, providing Agresti-Coull confidence intervals (CIs)...
December 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29584590/maternal-thyroid-function-in-early-pregnancy-and-child-neurodevelopmental-disorders-a-danish-nationwide-case-cohort-study
#8
Stine Linding Andersen, Stig Andersen, Peter Vestergaard, Jørn Olsen
BACKGROUND: Maternal thyroid dysfunction may adversely affect fetal brain development, but more evidence is needed to refine this hypothesis. The aim of this study was to evaluate potential fetal programming by abnormal maternal thyroid function on child neurodevelopmental disorders. METHODS: The design was a case-cohort study within the Danish National Birth Cohort (1997-2003). From the eligible cohort of 71,706 women, a random 12% sub-cohort (n = 7624) was selected, and all women (n = 2276) whose child was diagnosed with seizures, specific developmental disorder (SDD), autism spectrum disorder (ASD), and/or attention-deficit/hyperactivity disorder (ADHD) up to December 31, 2010, were identified...
March 27, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29581270/kv4-2-autism-and-epilepsy-mutation-enhances-inactivation-of-closed-channels-but-impairs-access-to-inactivated-state-after-opening
#9
Meng-Chin A Lin, Stephen C Cannon, Diane M Papazian
A de novo mutation in the KCND2 gene, which encodes the Kv4.2 K+ channel, was identified in twin boys with intractable, infant-onset epilepsy and autism. Kv4.2 channels undergo closed-state inactivation (CSI), a mechanism by which channels inactivate without opening during subthreshold depolarizations. CSI dynamically modulates neuronal excitability and action potential back propagation in response to excitatory synaptic input, controlling Ca2+ influx into dendrites and regulating spike timing-dependent plasticity...
March 26, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29580901/species-conserved-syngap1-phenotypes-associated-with-neurodevelopmental-disorders
#10
REVIEW
Murat Kilinc, Thomas Creson, Camilo Rojas, Massimiliano Aceti, Jacob Ellegood, Thomas Vaissiere, Jason P Lerch, Gavin Rumbaugh
SYNGAP1 loss-of-function variants are causally associated with intellectual disability, severe epilepsy, autism spectrum disorder and schizophrenia. While there are hundreds of genetic risk factors for neurodevelopmental disorders (NDDs), this gene is somewhat unique because of the frequency and penetrance of loss-of-function variants found in patients combined with the range of brain disorders associated with SYNGAP1 pathogenicity. These clinical findings indicate that SYNGAP1 regulates fundamental neurodevelopmental processes that are necessary for brain development...
March 23, 2018: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/29558884/few-individuals-with-lennox-gastaut-syndrome-have-autism-spectrum-disorder-a-comparison-with-dravet-syndrome
#11
Na He, Bing-Mei Li, Zhao-Xia Li, Jie Wang, Xiao-Rong Liu, Heng Meng, Bin Tang, Wen-Jun Bian, Yi-Wu Shi, Wei-Ping Liao
BACKGROUND: Autism spectrum disorder (ASD) in epilepsy has been a topic of increasing interest, which in general occurs in 15-35% of the patients with epilepsy, more frequently in those with intellectual disability (ID). Lennox-Gastaut syndrome (LGS) and Dravet syndrome (DS) are two typical forms of intractable epileptic encephalopathy associated with ID. We previously reported that ASD was diagnosed in 24.3% of patients with DS, higher in those with profound ID. Given the severe epilepsy and high frequency of ID in LGS, it is necessary to know whether ASD is a common psychomotor co-morbidity of LGS...
March 20, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29555100/myoclonus-in-angelman-syndrome
#12
Sarah F Pollack, Olivia R Grocott, Kimberly A Parkin, Anna M Larson, Ronald L Thibert
Angelman syndrome (AS) is a neurogenetic imprinting disorder caused by loss of the maternally inherited Ube3a gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Myoclonic seizures are often the first seizure type to appear, and myoclonic status, associated with developmental regression, may occur in the first few years of life. Additionally, there have been rare reports of prolonged episodes of myoclonus without electrographic correlate in adults with AS...
March 16, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29554876/clinical-utility-of-exome-sequencing-in-individuals-with-large-homozygous-regions-detected-by-chromosomal-microarray-analysis
#13
Aparna Prasad, Matthew A Sdano, Rena J Vanzo, Patricia A Mowery-Rushton, Moises A Serrano, Charles H Hensel, E Robert Wassman
BACKGROUND: Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide polymorphism probes can detect large homozygous regions within the genome, which represent potential risk for recessively inherited disorders. METHODS: To determine the frequency in which pathogenic or likely pathogenic variants can be detected in these regions of homozygosity, we performed whole exome sequencing (WES) in 53 individuals where homozygosity was detected by CMA...
March 20, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29549876/adult-autism-subthreshold-spectrum-adas-spectrum-in-parents-of-pediatric-patients-with-epilepsy-correlations-with-post-traumatic-stress-symptoms
#14
L Dell'Osso, M Corsi, C Gesi, C A Bertelloni, G Massimetti, D Peroni, A Bonuccelli, A Orsini, C Carmassi
Increasing literature has shown the usefulness of a dimensional approach to mental disorders, particularly when exploring subjects exposed to traumatic experiences such as a severe illness in one's child. Recent evidence suggests an increased vulnerability in subjects with autism spectrum symptoms to develop post-traumatic stress symptoms. The aim of the present study was to evaluate the presence of adult autism subthreshold spectrum in a sample of parents of children with epilepsy and its impact on post-traumatic stress spectrum symptoms in the same study sample...
February 12, 2018: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/29538366/prenatal-perinatal-and-neonatal-risk-factors-of-autism-spectrum-disorder
#15
Elizabeth Hisle-Gorman, Apryl Susi, Theophil Stokes, Gregory Gorman, Christine Erdie-Lalena, Cade M Nylund
OBJECTIVE: We explored the association of 29 previously reported neonatal, perinatal and prenatal conditions and exposures with later diagnosis of ASD in a large sample of children followed over multiple years. STUDY DESIGN: A retrospective case-cohort study was formed using the Military Health System database. Cases were identified by International Classification of Diseases, Ninth Revision (ICD-9) codes for ASD between 2000 and 2013 and were matched 3:1 with controls on sex, date of birth, and enrollment time-frame...
March 14, 2018: Pediatric Research
https://www.readbyqxmd.com/read/29533680/copy-number-variation-in-fetal-alcohol-spectrum-disorder
#16
Mehdi Zarrei, Geoffrey G Hicks, James N Reynolds, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Molly Pind, Sylvia Lamoureux, John Wei, Zhouzhi Wang, Christian R Marshall, Richard F Wintle, Albert E Chudley, Stephen W Scherer
Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence of prenatal alcohol exposure. Earlier reports showed that large chromosomal anomalies may link to FASD. Here, we examined the prevalence and types of copy number variations (CNVs) in FASD cases previously diagnosed by a multidisciplinary FASD team in sites across Canada. We genotyped 95 children with FASD and 87 age-matched, typically developing controls on the Illumina Human Omni2...
March 13, 2018: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29516448/-autistic-regression-clinical-and-aetiological-aspects
#17
V L Ruggieri, C L Arberas
INTRODUCTION: Autism spectrum disorders are neurodevelopmental dysfunctions that are characterised by deficits in social integration and communication, associated with restricted interests and stereotypic behaviour. A high percentage are related to language disorders, sensory dysfunctions, attention deficit disorder, bipolarity, intellectual disability or epilepsy, among other comorbidities. It is estimated that around 30% of children with autism, with typical early development, may present regression in the first years of life, which was already reported by Kanner in one of his original cases...
March 1, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29500070/screening-for-tsc1-and-tsc2-mutations-using-ngs-in-greek-children-with-tuberous-sclerosis-syndrome
#18
Anna Papadopoulou, Argyrios Dinopoulos, George Koutsodontis, Roser Pons, Pelagia Vorgia, Vasiliki Koute, Athanassios Vratimos, Dimitrios Zafeiriou
Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, including the brain, heart, skin and kidneys. Seizures, autism, developmental and behavioral delay, as well as non-neurological phenotypic findings, are suggestive of TSC. The identification of one pathogenic mutation in either the TSC1 or TSC2 genes is considered to be an independent diagnostic criterion...
February 9, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29490292/top3b-a-novel-candidate-gene-in-juvenile-myoclonic-epilepsy
#19
Marwa Daghsni, Saida Lahbib, Mohamed Fradj, Marwa Sayeb, Wided Kelmemi, Lilia Kraoua, Mariem Kchaou, Faouzi Maazoul, Slim Echebbi, Nadia Ben Ali, Sonia Abdelhak, Ridha M'rad
Juvenile myoclonic epilepsy (JME) is characterized by seizures, severe cognitive abnormalities, and behavior impairments. These features could evolve over time and get worse, especially when the encephalopathy is pharmacoresistant. Thus, genetic studies should provide a better understanding of infantile epilepsy syndromes. Herein, we investigate the genetics of JME in a consanguineous family analyzing the copy number variations detected using over 700 K SNP arrays. We identified a 254-kb deletion in the 22q11...
February 28, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29486137/characteristics-of-children-prescribed-antipsychotics-analysis-of-routinely-collected-data
#20
Sinead Brophy, Jonathan Kennedy, Fabiola Fernandez-Gutierrez, Ann John, Robert Potter, Christine Linehan, Michael Kerr
OBJECTIVE: Antipsychotics are licensed for psychosis and are also prescribed for behavior control. This study aims to examine characteristics and outcomes of children prescribed antipsychotics. METHODS: A cohort study using general practice and hospital records linked with education records for 1,488,936 children living in Wales between 1999 and 2015. The characteristics of the children who were prescribed antipsychotics are presented using descriptive statistics and outcomes such as respiratory illness, diabetes, and injury were analyzed using multilevel logistic regression and the prior event rate ratio (PERR)...
February 27, 2018: Journal of Child and Adolescent Psychopharmacology
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