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infantile autism

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https://www.readbyqxmd.com/read/28415925/the-role-of-oxidative-stress-inflammation-and-acetaminophen-exposure-from-birth-to-early-childhood-in-the-induction-of-autism
#1
William Parker, Chi Dang Hornik, Staci Bilbo, Zoie E Holzknecht, Lauren Gentry, Rasika Rao, Shu S Lin, Martha R Herbert, Cynthia D Nevison
The wide range of factors associated with the induction of autism is invariably linked with either inflammation or oxidative stress, and sometimes both. The use of acetaminophen in babies and young children may be much more strongly associated with autism than its use during pregnancy, perhaps because of well-known deficiencies in the metabolic breakdown of pharmaceuticals during early development. Thus, one explanation for the increased prevalence of autism is that increased exposure to acetaminophen, exacerbated by inflammation and oxidative stress, is neurotoxic in babies and small children...
April 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28413209/duplication-17p11-2-potocki-lupski-syndrome-in-a-child-with-developmental-delay
#2
S Shuib, N N Saaid, Z Zakaria, J Ismail, Z Abdul Latiff
Potocki-Lupski syndrome (PTLS), also known as duplication 17p11.2 syndrome, trisomy 17p11.2 or dup(17)(p11.2p11.2) syndrome, is a developmental disorder and a rare contiguous gene syndrome affecting 1 in 20,000 live births. Among the key features of such patients are autism spectrum disorder, learning disabilities, developmental delay, attention-deficit disorder, infantile hypotonia and cardiovascular abnormalities. Previous studies using microarray identified variations in the size and extent of the duplicated region of chromosome 17p11...
April 2017: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/28379373/genetic-and-phenotypic-heterogeneity-suggest-therapeutic-implications-in-scn2a-related-disorders
#3
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot-Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, Maria J Miranda, Maja Hempel, Eva Brilstra, Nine Knoers, Nienke Verbeek, Marjan van Kempen, Kees P Braun, Grazia Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily Wong-Kisiel, Friedrich M Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G Thoene, Daniel H Arndt, Nicolas Deconinck, Thomas Schmitt-Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, Claudio Finetti, Reinhard Brückner, Joachim Pietz, Günther Golla, Dinesh Jillella, Karen M Linnet, Perrine Charles, Ute Moog, Eve Õiglane-Shlik, John F Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, G Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L Helbig, Katia Hardies, Hannah Stamberger, Peter de Jonghe, Sarah Weckhuysen, Johannes R Lemke, Ingeborg Krägeloh-Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S Møller
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p...
March 4, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28296516/eye-disorders-among-adult-people-diagnosed-with-infantile-autism-in-childhood-a-longitudinal-case-control-study
#4
Svend Erik Mouridsen, Bente Rich, Torben Isager
PURPOSE: The objective of this study was to compare the prevalence and types of eye disorders in a clinical sample of 118 adult people diagnosed with infantile autism (IA) during childhood with 336 sex- and age-matched controls from the general population. METHODS: All participants were screened through the nationwide Danish National Hospital Register. The average observation time of both groups was 37.2 years, and mean age was 49.6 years, by the end of the observation period...
March 15, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/28256214/opposing-effects-on-nav1-2-function-underlie-differences-between-scn2a-variants-observed-in-individuals-with-autism-spectrum-disorder-or-infantile-seizures
#5
Roy Ben-Shalom, Caroline M Keeshen, Kiara N Berrios, Joon Y An, Stephan J Sanders, Kevin J Bender
BACKGROUND: Variants in the SCN2A gene that disrupt the encoded neuronal sodium channel NaV1.2 are important risk factors for autism spectrum disorder (ASD), developmental delay, and infantile seizures. Variants observed in infantile seizures are predominantly missense, leading to a gain of function and increased neuronal excitability. How variants associated with ASD affect NaV1.2 function and neuronal excitability are unclear. METHODS: We examined the properties of 11 ASD-associated SCN2A variants in heterologous expression systems using whole-cell voltage-clamp electrophysiology and immunohistochemistry...
January 27, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28213805/an-overview-of-autism-spectrum-disorder-heterogeneity-and-treatment-options
#6
REVIEW
Anne Masi, Marilena M DeMayo, Nicholas Glozier, Adam J Guastella
Since the documented observations of Kanner in 1943, there has been great debate about the diagnoses, the sub-types, and the diagnostic threshold that relates to what is now known as autism spectrum disorder (ASD). Reflecting this complicated history, there has been continual refinement from DSM-III with 'Infantile Autism' to the current DSM-V diagnosis. The disorder is now widely accepted as a complex, pervasive, heterogeneous condition with multiple etiologies, sub-types, and developmental trajectories. Diagnosis remains based on observation of atypical behaviors, with criteria of persistent deficits in social communication and restricted and repetitive patterns of behavior...
April 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#7
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28050484/sleep-disorder-gastrointestinal-problems-and-behaviour-problems-seen-in-autism-spectrum-disorder-children-and-yoga-as-therapy-a-descriptive-review
#8
REVIEW
Kumar Narasingharao, Balaram Pradhan, Janardhana Navaneetham
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with deficiencies in many developmental milestones during the infantile childhood. Recent researches have shown that apart from behaviour problems, the ASD children also suffer from physiological conditions such as disturbed sleep and gastrointestinal problems that could be the contributing factors to their daytime behaviour problems. Lots of parents have expressed that, lack of sleep among the children have resulted in high levels of stress among the family members particularly among the immediate caretakers which are in most cases the mother of the child...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28004629/manifestations-of-tuberous-sclerosis-complex-the-experience-of-a-provincial-clinic
#9
Colin Wilbur, Chinnuwat Sanguansermsri, Hedi Chable, Mihaela Anghelina, Sharon Peinhof, Kelly Anderson, Paul Steinbok, Ash Singhal, Anita Datta, Mary B Connolly
BACKGROUND: Tuberous sclerosis complex (TSC) is a neurocutaneous disorder with a wide spectrum of manifestations. Recent consensus recommendations stress the importance of multidisciplinary management of children with TSC. The objective of this study was to examine the manifestations of TSC at a large referral centre to determine the care needs of this population. METHODS: A retrospective, systematic chart review was performed of children with TSC managed at British Columbia Children's Hospital...
January 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/27798109/embryonic-forebrain-transcriptome-of-mice-with-polyalanine-expansion-mutations-in-the-arx-homeobox-gene
#10
Tessa Mattiske, Kristie Lee, Jozef Gecz, Gaelle Friocourt, Cheryl Shoubridge
The Aristaless-related homeobox (ARX) gene encodes a paired-type homeodomain transcription factor with critical roles in embryonic development. Mutations in ARX give rise to intellectual disability (ID), epilepsy and brain malformation syndromes. To capture the genetics and molecular disruptions that underpin the ARX-associated clinical phenotypes, we undertook a transcriptome wide RNASeq approach to analyse developing (12.5 dpc) telencephalon of mice modelling two recurrent polyalanine expansion mutations with different phenotypic severities in the ARX gene...
December 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27774001/the-significance-of-the-enteric-microbiome-on-the-development-of-childhood-disease-a-review-of-prebiotic-and-probiotic-therapies-in-disorders-of-childhood
#11
REVIEW
John Slattery, Derrick F MacFabe, Richard E Frye
Recent studies have highlighted the fact that the enteric microbiome, the trillions of microbes that inhabit the human digestive tract, has a significant effect on health and disease. Methods for manipulating the enteric microbiome, particularly through probiotics and microbial ecosystem transplantation, have undergone some study in clinical trials. We review some of the evidence for microbiome alteration in relation to childhood disease and discuss the clinical trials that have examined the manipulation of the microbiome in an effort to prevent or treat childhood disease with a primary focus on probiotics, prebiotics, and/or synbiotics (ie, probiotics + prebiotics)...
2016: Clinical Medicine Insights. Pediatrics
https://www.readbyqxmd.com/read/27706446/infantile-autism-impact-of-diagnosis-and-repercussions-in-family-relationships
#12
Rayssa Naftaly Muniz Pinto, Isolda Maria Barros Torquato, Neusa Collet, Altamira Pereira da Silva Reichert, Vinicius Lino de Souza, Alynne Mendonça Saraiva
Objective: To analyse the context in which the diagnosis of autism is revealed and the impact of this revelation on family relationships. Methods: This is a qualitative study with 10 families of autistic children assisted at the Psychosocial Care Centre for Children and Youths in a municipality of Paraíba. Data were collected between July and August 2013 through semi-structured interviews and interpreted using thematic content analysis. Results: The identified Main Unit of Analysis and the respective categories were: the impact of disclosing the diagnosis of autism to the family; characteristics of diagnosis disclosure: the place, time, and the dialogic relationship between the professional and the family; changes in family relationships and the mother's burden when caring for the autistic child...
October 3, 2016: Revista Gaúcha de Enfermagem
https://www.readbyqxmd.com/read/27669633/aging-with-autism-spectrum-disorder-an-emerging-public-health-problem
#13
Ana Hategan, James A Bourgeois, Jeremy Goldberg
From 1943, when Leo Kanner originally described autism, and to the first objective criteria for "infantile autism" in DSM-III and the inclusion of Asperger's disorder in DSM-IV, the subsequent classification scheme for autistic disorders has led to a substantial change with the 2013 issuance of the DSM-5 by including subcategories into one umbrella diagnosis of autism spectrum disorder (ASD) (Baker, 2013). ASD is a lifelong neurodevelopmental disorder, characterized by social and communication impairments and restricted, stereotypical patterns of behavior (Baker, 2013)...
April 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/27563002/-the-maternal-effect-in-infantile-autism-elevated-dna-damage-degree-in-patients-and-their-mothers
#14
L N Porokhovnik, S V Kostyuk, E S Ershova, S M Stukalov, N N Veiko, N Yu Korovina, N L Gorbachevskaya, A B Sorokin, N A Lyapunova
Infantile autism is a common disorder of mental development, which is characterized by impairments in the communicative, cognitive and speech spheres and obsessional stereotyped behaviour. Although in most cases, pathogenic factors remain unclear, infantile autism has a significant hereditary component, however, its etiology is also under the influence of environmental factors, including the condition of the mother's body during pregnancy ("maternal effect"). Oxidative stress is assumed to play a key role in the pathogenesis of infantile autism...
May 2016: Biomedit︠s︡inskai︠a︡ Khimii︠a︡
https://www.readbyqxmd.com/read/27448332/diseases-of-the-circulatory-system-among-adult-people-diagnosed-with-infantile-autism-as-children-a-longitudinal-case-control-study
#15
Svend Erik Mouridsen, Bente Rich, Torben Isager
BACKGROUND: Research dealing with adult people with autism spectrum disorders (ASD) noticeably lags behind studies of children and young individuals with ASD. AIMS: The objective of this study was to compare the prevalence and types of diseases of the circulatory system in a clinical sample of 118 adult people diagnosed with infantile autism (IA) as children with 336 sex and age matched controls from the general population. METHODS AND PROCEDURES: All participants were screened through the nationwide Danish National Hospital Register...
October 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27351598/atopic-diseases-and-inflammation-of-the-brain-in-the-pathogenesis-of-autism-spectrum-disorders
#16
REVIEW
T C Theoharides, I Tsilioni, A B Patel, R Doyle
Autism spectrum disorders (ASDs) affect as many as 1 in 45 children and are characterized by deficits in sociability and communication, as well as stereotypic movements. Many children also show severe anxiety. The lack of distinct pathogenesis and reliable biomarkers hampers the development of effective treatments. As a result, most children with ASD are prescribed psychopharmacologic agents that do not address the core symptoms of ASD. Autoantibodies against brain epitopes in mothers of children with ASD and many such children strongly correlate with allergic symptoms and indicate an aberrant immune response, as well as disruption of the blood-brain barrier (BBB)...
2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27350381/the-effect-of-epilepsy-on-autistic-symptom-severity-assessed-by-the-social-responsiveness-scale-in-children-with-autism-spectrum-disorder
#17
Chanyoung Ko, Namwook Kim, Eunjoo Kim, Dong Ho Song, Keun-Ah Cheon
BACKGROUND: As the prevalence of autism spectrum disorders in people with epilepsy ranges from 15 to 47 % (Clarke et al. in Epilepsia 46:1970-1977, 2005), it is speculated that there is a special relationship between the two disorders, yet there has been a lack of systematic studies comparing the behavioral phenotype between autistic individuals and autistic individuals with epilepsy. This study aims to investigate how the co-occurrence of epilepsy and Autism Spectrum Disorder (ASD) affects autistic characteristics assessed by the Social Responsiveness Scale (SRS), which has been used as a measure of autism symptoms in previous studies...
June 27, 2016: Behavioral and Brain Functions: BBF
https://www.readbyqxmd.com/read/27330989/combined-targeted-treatment-in-early-onset-epilepsy-associated-with-tuberous-sclerosis
#18
Romina Moavero, Sara Marciano, Federica Graziola, Paolo Curatolo
Tuberous sclerosis is associated with epilepsy in up to 85% of cases, and in 2/3, the onset is within the first year of life. An early antiepileptic treatment is crucial to minimize the consequences of epilepsy on cognition and behavior. We present a case report of a child with tuberous sclerosis who presented with infantile spasms at the age of 6 months, immediately treated with vigabatrin. Because of the presence of a subependymal giant cell astrocytoma, he also received everolimus since 18 months of age...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/27293335/infantile-spasms-a-prognostic-evaluation
#19
Mary Iype, Geetha Saradakutty, Puthuvathra Abdul Mohammed Kunju, Devi Mohan, Muttathu Krishnapanicker Chandrasekharan Nair, Babu George, Shahanaz M Ahamed
BACKGROUND: Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome. OBJECTIVE: We aimed to follow up children with infantile spasms to study: a) the etiology, demographics, semiology, electroencephalogram (EEG), and radiological pattern; b) seizure control, psychomotor development, and EEG resolution with treatment; c) the effects of various factors on the control of spasms, resolution of EEG changes, and psychomotor development at 3-year follow-up...
April 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/27238888/xq11-1-11-2-deletion-involving-arhgef9-in-a-girl-with-autism-spectrum-disorder
#20
Gifty Bhat, Danielle LaGrave, Alison Millson, John Herriges, Allen N Lamb, Reuben Matalon
We report an 8-year-old female with autism spectrum disorder (ASD), intellectual disability and speech delay who was found to carry a de novo 82 kb deletion of chromosome Xq11.1-11.2 involving the ARHGEF9 gene on chromosomal microarray. So far, 11 patients with point mutations, disruptions due to chromosomal rearrangements and deletions involving ARHGEF9 have been reported in the literature. ARHGEF9-related disorders comprise a wide phenotypic spectrum, including behavior disorders, autism spectrum disorder, intellectual disability, hyperekplexia and infantile epileptic encephalopathy...
September 2016: European Journal of Medical Genetics
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