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Autism diagnosis

Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: To present molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) associated with the inv dup(15) syndrome. CASE REPORT: A 35-year-old woman underwent amniocentesis because of advanced maternal age at 27 weeks of gestation, which revealed an sSMC that was confirmed by fluorescence in situ hybridization (FISH) to be derived from chromosome 15...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
Ferhat Yaylaci, Suha Miral
Aim of this study was to compare children diagnosed with Pervasive Developmental Disorder (PDD) according to DSM-IV-TR and DSM-5 diagnostic systems. One hundred fifty children aged between 3 and 15 years diagnosed with PDD by DSM-IV-TR were included. PDD symptoms were reviewed through psychiatric assessment based on DSM-IV-TR and DSM-5 criteria. Clinical severity was determined using Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC). A statistically significant decrease (19.3 %) was detected in the diagnostic ratio with DSM-5...
October 17, 2016: Journal of Autism and Developmental Disorders
Melissa DeFilippis, Karen Dineen Wagner
Autism spectrum disorder is a diagnosis that includes significant social communication deficits/delays along with restricted patterns of interests and behaviors. The prevalence of this diagnosis has increased over the past few decades, and it is unclear whether this is solely attributable to the increased awareness of milder forms of the disorder among medical providers. The current treatment options for the core symptoms of autism are limited to psychosocial therapies, such as applied behavior analysis. Medications have been most effective in treating the associated behavioral symptoms of autism, though studies have examined potential benefits in some of the core symptoms of autism with certain medications, especially the repetitive behaviors often seen with this diagnosis...
August 15, 2016: Psychopharmacology Bulletin
Tao Xiong, Hongju Chen, Rong Luo, Dezhi Mu
BACKGROUND: The rising prevalence of autism spectrum disorder (ASD) has increased the need for evidence-based treatments to lessen the impact of symptoms. Presently, no therapies are available to effectively treat individuals with all of the symptoms of this disorder. It has been suggested that hyperbaric oxygen therapy may alleviate the biochemical dysfunction and clinical symptoms of ASD. OBJECTIVES: To determine whether treatment with hyperbaric oxygen:1. improves core symptoms of ASD, including social communication problems and stereotypical and repetitive behaviors;2...
October 13, 2016: Cochrane Database of Systematic Reviews
Michael B Lewis, Emily Dunn
People tend to mimic the facial expression of others. It has been suggested that this helps provide social glue between affiliated people but it could also aid recognition of emotions through embodied cognition. The degree of facial mimicry, however, varies between individuals and is limited in people with autism spectrum conditions (ASC). The present study sought to investigate the effect of promoting facial mimicry during a facial-emotion-recognition test. In two experiments, participants without an ASC diagnosis had their autism quotient (AQ) measured...
October 13, 2016: Quarterly Journal of Experimental Psychology: QJEP
Vesna Bryn, Hans Christian Dalsbotten Aass, Ola H Skjeldal, Jørn Isaksen, Ola Didrik Saugstad, Heidi Ormstad
The pathogenesis of autism spectrum disorders (ASD) is not completely understood, but there is evidence of associations with altered immune responses. The aim of this study was to determine the serum levels of various cytokines in children with ASD and in healthy controls, in order to determine their role in ASD and its diagnostic subgroups. Sixty-five ASD patients were enrolled from an epidemiological survey in Norway, of which 30 were diagnosed with childhood autism, 16 with Asperger syndrome, 12 with atypical autism, 1 with Rett syndrome, and 6 with another ASD diagnosis...
October 12, 2016: Journal of Molecular Neuroscience: MN
Maya Matheis, Johnny L Matson, Claire O Burns, Xinrui Jiang, W Jason Peters, Michael Moore, Kaitlin A de Back, Jasper Estabillo
PURPOSE: The age of first concern (AOC) of parents of children with autism spectrum disorders (ASD) has substantial implications for early diagnosis and intervention. The current study sought to determine the average AOC, what types of first concerns are most common, and what factors predict earlier AOC in toddlers with ASD. METHODS: This study analyzed the predictive influence of the type of concern, symptom severity, medical diagnoses, and other independent variables on AOC among toddlers with ASD using multiple regressions...
August 11, 2016: Developmental Neurorehabilitation
John P Hegarty, Bradley J Ferguson, Rachel M Zamzow, Landon J Rohowetz, Jeffrey D Johnson, Shawn E Christ, David Q Beversdorf
The beta-adrenergic antagonist propranolol benefits some social and communication domains affected in autism spectrum disorder (ASD), and these benefits appear to be associated with increased functional connectivity (FC) in the brain during task performance. FC is implicated in ASD, with the majority of studies suggesting long distance hypo-connectivity combined with regionally specific local hyper-connectivity. The objective in the current investigation was to examine the effect of propranolol on FC at rest and determine whether ASD-specific effects exist...
October 6, 2016: Brain Imaging and Behavior
Marcio Leyser, Bruno Leonardo Dias, Ana Luiza Coelho, Marcio Vasconcelos, Osvaldo J M Nascimento
BACKGROUND: Autism Spectrum Disorders (ASD) now encompass a broad heterogeneous group of people who present in the early developmental years with a wide range of social and communication deficits, which are typically also associated with complex repetitive behaviors and circumscribed interests. The target goal is to heighten readers' perception into the trend to personalize the distinct autistic and related developmental conditions encompassing the 12p region. CASE PRESENTATION: This is a case-report of a 4-year-old male who presented the core signs of ASD, which were thought to be related to a rare 12p13...
2016: Molecular Cytogenetics
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
Emanuela Balestrieri, Chiara Cipriani, Claudia Matteucci, Natale Capodicasa, Anita Pilika, Ina Korca, Roberta Sorrentino, Ayele Argaw-Denboba, Ilaria Bucci, Martino Tony Miele, Antonella Coniglio, Riccardo Alessandrelli, Paola Sinibaldi Vallebona
Recent studies suggest that autism spectrum disorders (ASD) result from interactions between genetic and environmental factors, whose possible links could be represented by epigenetic mechanisms. Here, we investigated the transcriptional activity of three human endogenous retrovirus (HERV) families, in peripheral blood mononuclear cells (PBMCs) from Albanian ASD children, by quantitative real-time PCR. We aimed to confirm the different expression profile already found in Italian ASD children, and to highlight any social and family health condition emerging from information gathered through a questionnaire, to be included among environmental risk factors...
July 2016: New Microbiologica
Adam Helles, Märta Wallinius, I Carina Gillberg, Christopher Gillberg, Eva Billstedt
BACKGROUND: Temperament and character have been shown to be important factors in understanding psychiatric and neurodevelopmental disorder. Adults with autism spectrum disorder (ASD) have repeatedly been shown to have a distinct temperament and character, but this has not been evaluated in relation to psychiatric comorbidity and ASD diagnostic stability. AIMS: To examine temperament and character in males that were diagnosed with ASD in childhood and followed prospectively over almost two decades...
May 2016: BJPsych Open
Naoko Kishimoto, Kazuhiko Yamamuro, Junzo Iida, Toyosaku Ota, Shohei Tanaka, Masanori Kyo, Sohei Kimoto, Toshifumi Kishimoto
OBJECTIVE: The differential diagnosis of schizophrenia (SZ) versus autism spectrum disorder (ASD) can be clinically challenging because accumulating evidence suggests both clinical and biological overlaps between them. The aim of this study was to compare Rorschach profiles between young adults with SZ and those with ASD. METHODS: We evaluated quantitative tendencies on the Rorschach test among 20 patients diagnosed with SZ and 20 diagnosed with ASD. Both groups were matched for age, sex, and intelligence quotient...
2016: Neuropsychiatric Disease and Treatment
Lucy Barnard-Brak, David M Richman, Rosario Moreno
Elopement exhibited by school-aged children with special health care needs is a relatively low frequency problem behavior with the potential for severe negative consequences for the child and family. Using data from the Centers for Disease Control and Prevention (CDC) Survey of Pathways to Diagnosis and Services, our results represent one of the first empirical studies of variables that may be associated with children with special health care needs engaging in elopement. Using data from a nationally representative sample of children with special health care needs, our results revealed two variables that were statistically significant predictors of parent-reported elopement in the past year: (1) the child's chronological age, and (2) the presence of an autism spectrum disorder (ASD) diagnosis...
October 3, 2016: Journal of Primary Prevention
Yun Tae Hwang, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Belinda Chong, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Matthew Hunter, Robert Heard, David Eugeny Godler
CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55-199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder. Here we present a 33-year-old male with FXS, with white matter changes and progressive deterioration in gait with cerebellar signs consistent with probable FXTAS; there was no evidence of any other cerebellar pathology...
October 1, 2016: American Journal of Medical Genetics. Part A
Johan Christiaan Bester
Importance: Measles is a highly communicable viral infection with serious complications. There have been continued outbreaks of measles in countries in which measles is considered to be eliminated, such as the United States and the Netherlands, and measles remains endemic in some countries. Health care professionals play an important role in diagnosing and managing acute cases of measles, preventing spread during outbreaks, and vaccination uptake. Objective: To provide an overview of measles and vaccination for health care professionals...
October 3, 2016: JAMA Pediatrics
Zhijun Yao, Bin Hu, Yuanwei Xie, Fang Zheng, Guangyao Liu, Xuejiao Chen, Weihao Zheng
Recently, studies based on time-varying functional connectivity have unveiled brain states diversity in some neuropsychiatric disorders, such as schizophrenia and major depressive disorder. However, time-varying functional connectivity analysis of resting-state functional Magnetic Resonance Imaging (fMRI) have been rarely performed on the Autism Spectrum Disorder (ASD). Hence, we performed time-varying connectivity analysis on resting-state fMRI data to investigate brain states mutation in ASD children. ASD showed an imbalance of connectivity state and aberrant ratio of connectivity with different strengths in the whole brain network, and decreased connectivity associated precuneus/posterior cingulate gyrus with medial prefrontal gyrus in default mode network...
2016: Frontiers in Human Neuroscience
Zuzana Musova, Miroslava Hancarova, Marketa Havlovicova, Radka Pourova, Michal Hrdlicka, Josef Kraus, Marie Trkova, David Stejskal, Zdenek Sedlacek
Myotonic dystrophy type 1 (DM1) belongs to the broad spectrum of genetic disorders associated with autism spectrum disorders (ASD). ASD were reported predominantly in congenital and early childhood forms of DM1. We describe dizygotic twin boys with ASD who were referred for routine laboratory genetic testing and in whom karyotyping, FMR1 gene testing, and single nucleotide polymorphism array analysis yielded negative results. The father of the boys was later diagnosed with suspected DM1, and testing revealed characteristic DMPK gene expansions in his genome as well as in the genomes of both twins and their elder brother, who also suffered from ASD...
2016: Neuropsychiatric Disease and Treatment
May Loong Tan, Jacqueline J Ho, Keng Hwang Teh
BACKGROUND: About 5% of school children have a specific learning disorder, defined as unexpected failure to acquire adequate abilities in reading, writing or mathematics that is not a result of reduced intellectual ability, inadequate teaching or social deprivation. Of these events, 80% are reading disorders. Polyunsaturated fatty acids (PUFAs), in particular, omega-3 and omega-6 fatty acids, which normally are abundant in the brain and in the retina, are important for learning. Some children with specific learning disorders have been found to be deficient in these PUFAs, and it is argued that supplementation of PUFAs may help these children improve their learning abilities...
September 28, 2016: Cochrane Database of Systematic Reviews
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