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infantile autism

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https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#1
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
#2
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
#3
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
#4
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...
October 25, 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
#5
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
#6
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
#7
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)...
September 27, 2016: International Psychogeriatrics
https://www.readbyqxmd.com/read/27563002/-the-maternal-effect-in-infantile-autism-elevated-dna-damage-degree-in-patients-and-their-mothers
#8
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
#9
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
#10
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
#11
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...
2016: Behavioral and Brain Functions: BBF
https://www.readbyqxmd.com/read/27330989/combined-targeted-treatment-in-early-onset-epilepsy-associated-with-tuberous-sclerosis
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/27068282/the-basis-for-folinic-acid-treatment-in-neuro-psychiatric-disorders
#15
REVIEW
V T Ramaekers, J M Sequeira, E V Quadros
Multiple factors such as genetic and extraneous causes (drugs, toxins, adverse psychological events) contribute to neuro-psychiatric conditions. In a subgroup of these disorders, systemic folate deficiency has been associated with macrocytic anemia and neuropsychiatric phenotypes. In some of these, despite normal systemic levels, folate transport to the brain is impaired in the so-called cerebral folate deficiency (CFD) syndromes presenting as developmental and psychiatric disorders. These include infantile-onset CFD syndrome, infantile autism with or without neurologic deficits, a spastic-ataxic syndrome and intractable epilepsy in young children expanding to refractory schizophrenia in adolescents, and finally treatment-resistant major depression in adults...
July 2016: Biochimie
https://www.readbyqxmd.com/read/27017024/medical-comorbidities-in-pediatric-headache
#16
REVIEW
Howard Jacobs, Samata Singhi, Jack Gladstein
Comorbid conditions frequently occur in pediatric headaches and may significantly affect their management. Comorbidities that have been associated with pediatric headaches include attention-deficit or hyperactivity disorder, autism, developmental disabilities, depression, anxiety, epilepsy, obesity, infantile colic, atopic disorders, inflammatory bowel disease, and irritable bowel syndrome. The goal of this article is to review these comorbidities associated with pediatric headache, thereby empowering child neurologists to identify common triggers and tailor management strategies that address headache and its comorbidities...
February 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/26789910/a-de-novo-frameshift-mutation-in-chromodomain-helicase-dna-binding-domain-8-chd8-a-case-report-and-literature-review
#17
Nancy Merner, Baudouin Forgeot d'Arc, Scott C Bell, Gilles Maussion, Huashan Peng, Julie Gauthier, Liam Crapper, Fadi F Hamdan, Jacques L Michaud, Laurent Mottron, Guy A Rouleau, Carl Ernst
Mutations in chromodomain helicase DNA-binding domain 8 (CHD8) have been identified in independent genotyping studies of autism spectrum disorder. To better understand the phenotype associated with CHD8 mutations, we genotyped all CHD8 exons in carefully assessed cohorts of autism (n = 142), schizophrenia (SCZ; n = 143), and intellectual disability (ID; n = 94). We identified one frameshift mutation, seven non-synonymous variants, and six synonymous variants. The frameshift mutation, p.Asn2092Lysfs*2, which creates a premature stop codon leading to the loss of 212 amino acids of the protein, was from an autism case on whom we present multiple clinical assessments and pharmacological treatments spanning more than 10 years...
May 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26746295/co-occurrence-of-deafness-and-infantile-autism
#18
(no author information available yet)
No abstract text is available yet for this article.
November 1991: American Journal of Psychiatry
https://www.readbyqxmd.com/read/26688372/maternal-use-of-acetaminophen-during-pregnancy-and-risk-of-autism-spectrum-disorders-in-childhood-a-danish-national-birth-cohort-study
#19
Zeyan Liew, Beate Ritz, Jasveer Virk, Jørn Olsen
Acetaminophen (paracetamol) is the most commonly used pain and fever medication during pregnancy. Previously, a positive ecological correlation between acetaminophen use and autism spectrum disorders (ASD) has been reported but evidence from larger studies based on prospective data is lacking. We followed 64,322 children and mothers enrolled in the Danish National Birth Cohort (DNBC; 1996-2002) for average 12.7 years to investigate whether acetaminophen use in pregnancy is associated with increased risk of ASD in the offspring...
September 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/26685108/infantile-spasms-and-15q11-2q13-1-chromosome-duplication-in-two-successive-generations
#20
Raili Sylvia Riikonen, Tiina Wallden, Hannaleena Kokkonen
Familial cases of West syndrome have been reported only in Japan. In that study no chromosomal analyses were made. It has been suggested that microarray analysis should be included in the diagnostic evaluation of patients with infantile spasms and developmental delay, when an evaluation for structural brain lesions and metabolic disorders reveal no abnormal findings. We report here the first case of infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations. The daughter and mother with infantile spasms, and the autistic son had the duplication...
January 2016: European Journal of Paediatric Neurology: EJPN
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