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infantile autism

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
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
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
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
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
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
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
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
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
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
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
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
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
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November 1991: American Journal of Psychiatry
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
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
Aglaia Vignoli, Francesca La Briola, Angela Peron, Katherine Turner, Chiara Vannicola, Monica Saccani, Elisabetta Magnaghi, Giulia Federica Scornavacca, Maria Paola Canevini
BACKGROUND: Neuropsychiatric disorders are present in up to 90% of patients with Tuberous Sclerosis Complex (TSC), and represent an important issue for families. Autism Spectrum Disorder (ASD) is the most common neurobehavioral disease, affecting up to 61% of patients. The aims of this study were: 1) to assess the prevalence of ASD in a TSC population; 2) to describe the severity of ASD; 3) to identify potential risk factors associated with the development of ASD in TSC patients. METHODS: We selected 42 individuals over age 4 years with a definite diagnosis of TSC and followed at a TSC clinic in Northern Italy...
2015: Orphanet Journal of Rare Diseases
Monica P Islam, E Steve Roach
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can affect the brain, skin, eyes, kidneys, heart, and lungs. TSC alters cellular proliferation and differentiation, resulting in hamartomas of various organs, tumor formation, and altered neuronal migration. The phenotype is highly variable. Most individuals have seizures, commonly including infantile spasms, and there is variable intellectual disability and autism. Neonates can present with cardiac failure due to intracardiac rhabdomyomas. The likelihood of renal angiomyolipomas increases with age, and renal disease is the most common cause of death in adults with TSC...
2015: Handbook of Clinical Neurology
Roberto Tuchman
The association of epilepsy, autism spectrum disorders (ASD), and intellectual disability (ID) is well recognized. There is a wide range of social-cognitive deficits that can be identified in epilepsy over the life-span, from ASD in infants with an epileptic encephalopathy, to social-cognitive impairments affecting social interaction and comprehension in those with normal nonsocial cognitive function. Identifying ASD and social-cognitive deficits is an important aspect of comprehensive epilepsy care. There are behavioral and educational interventions that exist to treat ASD and social-cognitive deficits...
July 2015: Epilepsy Currents
Magda Di Renzo, Federico Bianchi Di Castelbianco, Massimiliano Petrillo, Lidia Racinaro, Monica Rea
90 Italian children (72 boys, 18 girls) with a diagnosis of infantile autism (age range = 2.5-16.5 yr.) were assessed with a non-verbal intelligence test (Leiter-R). The test was repeated 3 times in four years. The measures used were IQ and Fluid Reasoning (FR), as evaluation of inductive and deductive reasoning, and the Autism Diagnostic Observation Schedule (ADOS), indicative of the severity of autistic symptoms at the beginning and at the end of therapy. The increase in the average IQ and FR scores at retests demonstrates the effectiveness of a treatment that emphasizes the centrality of the relationship-based approach...
August 2015: Psychological Reports
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