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https://www.readbyqxmd.com/read/28818479/a-structured-assessment-of-motor-function-behavior-and-communication-in-patients-with-wolf-hirschhorn-syndrome
#1
Heidi E Nag, David K Bergsaker, Bente S Hunn, Susanne Schmidt, Lise B Hoxmark
The present study aimed to increase the knowledge about Wolf-Hirschhorn syndrome (WHS), especially concerning motor function, autism spectrum disorders (ASD), and adapted behavior, but also regarding clinical symptoms in general. Motor function was evaluated via systematic observation. Standardized assessments such as the Vineland Adapted Behavior Scales II (VABS II), the Social Communication Questionnaire (SCQ), and the Child Behavior Checklist (CBCL) or Adult Behavior Checklist (ABCL) were used for the behavioral assessment...
August 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28816489/the-path-to-an-autism-spectrum-disorders-diagnosis-in-ethiopia-parent-perspective
#2
Waganesh A Zeleke, Tammy Hughes, Morgan Chitiyo
This study explores the common characteristics of children with autism spectrum disorders (ASDs) and the available diagnostic and intervention currently practiced for children with ASDs in Ethiopia based on parents' experience. Data gathered from 100 parents in Ethiopia detail the difficulties families face when they suspect their child has an autism spectrum disorder (ASD). The data indicate Ethiopian parents pursued a diagnosis of ASD after noting common ASD behaviors such as hand flapping and unusual attachments to objects...
August 17, 2017: American Journal of Orthopsychiatry
https://www.readbyqxmd.com/read/28814540/autism-spectrum-disorder-in-fragile-x-syndrome-cooccurring-conditions-and-current-treatment
#3
Walter E Kaufmann, Sharon A Kidd, Howard F Andrews, Dejan B Budimirovic, Amy Esler, Barbara Haas-Givler, Tracy Stackhouse, Catharine Riley, Georgina Peacock, Stephanie L Sherman, W Ted Brown, Elizabeth Berry-Kravis
BACKGROUND AND OBJECTIVE: Individuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes from family surveys and small studies. The objective of this study was to examine the impact of the ASD diagnosis in a large clinic-based FXS population to better inform the care of people with FXS. METHODS: The study employed a data set populated by data from individuals with FXS seen at specialty clinics across the country...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28813454/applying-machine-learning-to-identify-autistic-adults-using-imitation-an-exploratory-study
#4
Baihua Li, Arjun Sharma, James Meng, Senthil Purushwalkam, Emma Gowen
Autism spectrum condition (ASC) is primarily diagnosed by behavioural symptoms including social, sensory and motor aspects. Although stereotyped, repetitive motor movements are considered during diagnosis, quantitative measures that identify kinematic characteristics in the movement patterns of autistic individuals are poorly studied, preventing advances in understanding the aetiology of motor impairment, or whether a wider range of motor characteristics could be used for diagnosis. The aim of this study was to investigate whether data-driven machine learning based methods could be used to address some fundamental problems with regard to identifying discriminative test conditions and kinematic parameters to classify between ASC and neurotypical controls...
2017: PloS One
https://www.readbyqxmd.com/read/28807762/diagnostic-exome-sequencing-identifies-a-heterozygous-mbd5-frameshift-mutation-in-a-family-with-intellectual-disability-and-epilepsy
#5
Ji Yoon Han, In Goo Lee, Woori Jang, Myungshin Kim, Yonggoo Kim, Ja Hyun Jang, Joonhong Park
Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene include severe intellectual disability, seizure, significant speech impairment, sleep disturbance, and autistic-like behavioural problems. Here we report a 7-year-old girl with intellectual disability and epilepsy without previous clinical diagnosis...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28804976/demyelinating-neuropathy-in-a-6-year-old-girl-with-autism-spectrum-disorder
#6
Akiko Kamata, Kazuhiro Muramatsu, Noriko Sawaura, Nishiki Makioka, Tomomi Ogata, Makoto Kuwashima, Hirokazu Arakawa
Herein we report the case of a 6-year-old girl with autism spectrum disorder (ASD) and weakness in the distal portion of the right upper limb. Although difficult to perform, nerve conduction studies indicated demyelinating neuropathy. Magnetic resonance imaging (MRI) showed swelling a nd high-intensity signals in the right brachial plexus and cervical spinal roots. The symptoms recovered after a single course of i.v. immunoglobulin. Electrophysiological indices and MRI findings also improved after treatment...
August 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28795659/role-of-mycotoxins-in-the-pathobiology-of-autism-a-first-evidence
#7
Barbara De Santis, Carlo Brera, Alessandra Mezzelani, Sabina Soricelli, Francesca Ciceri, Giorgio Moretti, Francesca Debegnach, Maria Clara Bonaglia, Laura Villa, Massimo Molteni, Maria Elisabetta Raggi
OBJECTIVES: Gene-environment interaction is an emerging hypothesis to expound not only the autism pathogenesis but also the increased incidence of neurodevelopmental disorders (such as autistic spectrum disorder, attention-deficit, hyperactivity disorder). Among xenobiotics, mycotoxins are worldwide contaminants of food that provoke toxicological effects, crucially resembling several symptoms associated with autism such as oxidative stress, intestinal permeability, and inflammation. Here, we focused on a group of mycotoxins to test their role in the manifestation of autism, try to explain their mechanism of action, and discuss possible preventive and therapeutic interventions...
August 10, 2017: Nutritional Neuroscience
https://www.readbyqxmd.com/read/28789776/autism-spectrum-disorders-and-their-treatment-with-psychotropic-medications-in-a-nationally-representative-outpatient-sample-1994-2009
#8
Kelly Kamimura-Nishimura, Tanya Froehlich, Vilawan Chirdkiatgumchai, Ryan Adams, Bridget Fredstrom, Patty Manning
PURPOSE: No prior studies have assessed change in health care provider-coded rates of Autism spectrum disorder (ASD) diagnoses over time, and few have investigated sociodemographic factors associated with having an ASD diagnosis, having behavioral conditions comorbid with ASD, or using psychotropic medications for this group. METHODS: We used data from the 1994-2009 National (Hospital) Ambulatory Medical Care Surveys for children aged 2-18 years (n = 158,488)...
July 2017: Annals of Epidemiology
https://www.readbyqxmd.com/read/28781890/self-reported-pregnancy-exposures-and-placental-dna-methylation-in-the-marbles-prospective-autism-sibling-study
#9
Rebecca J Schmidt, Diane I Schroeder, Florence K Crary-Dooley, Jacqueline M Barkoski, Daniel J Tancredi, Cheryl K Walker, Sally Ozonoff, Irva Hertz-Picciotto, Janine M LaSalle
Human placenta is a fetal-derived tissue that offers a unique sample of epigenetic and environmental exposures present in utero. In the MARBLES prospective pregnancy study of high-risk younger siblings of children with autism spectrum disorder (ASD), pregnancy and environmental factors collected by maternal interviews were examined as predictors of placental DNA methylation, including partially methylated domains (PMDs), an embryonic feature of the placental methylome. DNA methylation data from MethylC-seq analysis of 47 placentas of children clinically diagnosed at 3 years with ASD or typical development using standardized assessments were examined in relation to: child's gestational age, birth-weight, and diagnosis; maternal pre-pregnancy body mass index, smoking, education, parity, height, prenatal vitamin and folate intake; home ownership; pesticides professionally applied to lawns or gardens or inside homes, pet flea/tick pouches, collars, or soaps/shampoos used in the 3 months prior to or during pregnancy...
December 2016: Environmental Epigenetics
https://www.readbyqxmd.com/read/28774669/neurodevelopmental-disorders-in-children-with-macrocephaly-a-prevalence-study-and-pten-gene-analysis
#10
Hirofumi Kurata, Kentaro Shirai, Yoshiaki Saito, Tetsuya Okazaki, Koyo Ohno, Masayoshi Oguri, Kaori Adachi, Eiji Nanba, Yoshihiro Maegaki
PURPOSE: To clarify the relationship between macrocephaly and neurodevelopmental disorders, as well as identify the prevalence of PTEN mutations in autism spectrum disorders with macrocephaly in Japan. SUBJECTS AND METHODS: Diagnostic and other medical information of children with macrocephaly younger than 4years (n=93) were collected for analysis. PTEN gene mutation analysis was conducted in another set of 16 macrocephalic individuals aged 3-22years. RESULTS: Sixteen macrocephalic children were associated with neurodevelopmental disorders, including autism spectrum disorders (ASDs) (n=6), autistic traits (n=5), intellectual disability (n=5), attention deficit hyperactivity disorder (n=1), developmental coordination disorders (n=1), and language disorder (n=1)...
July 31, 2017: Brain & Development
https://www.readbyqxmd.com/read/28772287/a-systematic-review-of-speech-assessments-for-children-with-autism-spectrum-disorder-recommendations-for-best-practice
#11
Kate Broome, Patricia McCabe, Kimberley Docking, Maree Doble
Purpose: The purpose of this systematic review was to provide a summary and evaluation of speech assessments used with children with autism spectrum disorders (ASD). A subsequent narrative review was completed to ascertain the core components of an evidence-based pediatric speech assessment, which, together with the results of the systematic review, provide clinical and research guidelines for best practice. Method: A systematic search of eight databases was used to find peer-reviewed research articles published between 1990 and 2014 assessing the speech of children with ASD...
August 15, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28770037/adhd-related-symptoms-and-attention-profiles-in-the-unaffected-siblings-of-probands-with-autism-spectrum-disorder-focus-on-the-subtypes-of-autism-and-asperger-s-disorder
#12
Yi-Ling Chien, Miao-Chun Chou, Yen-Nan Chiu, Wen-Jiun Chou, Yu-Yu Wu, Wen-Che Tsai, Susan Shur-Fen Gau
BACKGROUND: The presence of attention-deficit/hyperactive disorder (ADHD) symptoms and impaired attention performance are commonly noted in individuals with autism spectrum disorder (ASD). However, little is known about attention performance in their unaffected siblings. This study aimed to investigate the ADHD-related traits and attention performance in unaffected siblings of probands with autism and Asperger syndrome (AS), as well as the clinical correlates of ADHD-related traits. METHODS: We assessed the intention, hyperactivity-impulsivity, and oppositional symptoms, and attention profiles of 199 probands with a diagnosis of ASD (122 autism, 77 AS), their unaffected siblings, and 196 typically developing controls (TD) by their parents' reports on the ADHD-related symptoms and the Connors' Continuous Performance Test (CCPT), respectively...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28763010/chronic-respiratory-disorders-and-their-treatment-among-older-people-with-intellectual-disability-and-or-autism-spectrum-disorder-in-comparison-with-the-general-population
#13
Anna Axmon, Peter Höglund, Gerd Ahlström
Respiratory disorders are common among people with intellectual disabilities (ID). However, few studies have investigated these disorders among older people with ID. We identified 7936 people, aged 55+ years, with ID and a reference cohort from the general population. Data on diagnoses of chronic respiratory disorders, with a focus on asthma and chronic obstructive pulmonary disease (COPD), were collected, as was information on health care visits due to such disorders. We also added data on the prescription of drugs for obstructive airway diseases...
August 1, 2017: Healthcare (Basel, Switzerland)
https://www.readbyqxmd.com/read/28761206/comparative-dermatoglyphic-study-between-autistic-patients-and-normal-people-in-iran
#14
Mansoureh Kazemi, Mohammad Reza Fayyazi-Bordbar, Nasser Mahdavi-Shahri
Autism is a neurodevelopmental disorder originating from early childhood; nevertheless, its diagnosis is in older ages. In addition to heredity, environmental factors are also of great significance in the etiology of the disease. Dermatoglyphic patterns, albeit varied, remain stable for a lifetime and yield a large number of patterns upon examination. Studies have shown a significant association between dermatoglyphics and some diseases, especially genetic ones. We compared fingerprints between patients with autism and normal individuals in a Fars population living in Khorasan-Razavi Province, Iran, in 2015...
July 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28755033/the-actions-and-feelings-questionnaire-in-autism-and-typically-developed-adults
#15
Justin H G Williams, Isobel M Cameron
Impaired motor cognition may underpin empathy problems in autism. The actions and feelings questionnaire (AFQ), designed to examine individual differences in motor cognition, was completed fully by 1391 adults, of whom 326 reported a diagnosis of an autism spectrum condition (ASC). A confirmatory factor analysis supported a 3 factor model. The AFQ total and 'feelings' subscale scores correlated highly with the EQ and ROC curves were similar. Our findings suggest that individual differences in empathic traits are heavily accounted for by variance in mechanisms that serve sensorimotor learning (motor cognition) in relation to emotional states...
July 28, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28754226/febrile-seizures-and-epilepsy-association-with-autism-and-other-neurodevelopmental-disorders-in-the-child-and-adolescent-twin-study-in-sweden
#16
Christopher Gillberg, Sebastian Lundström, Elisabeth Fernell, Gill Nilsson, Brian Neville
BACKGROUND: There is a recently well-documented association between childhood epilepsy and earlysymptomaticsyndromeselicitingneurodevelopmentalclinicalexaminations (ESSENCE) including autism spectrum disorder, but the relationship between febrile seizures and ESSENCE is less clear. METHODS: The Child and Adolescent Twin Study in Sweden (CATSS) is an ongoing population-based study targeting twins born in Sweden since July 1, 1992. Parents of 27,092 twins were interviewed using a validated DSM-IV-based interview for ESSENCE, in connection with the twins' ninth or twelfth birthday...
June 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28753498/the-impact-of-epilepsy-on-academic-achievement-in-children-with-normal-intelligence-and-without-major-comorbidities-a-systematic-review
#17
REVIEW
S W Wo, L C Ong, W Y Low, P S M Lai
PURPOSE: To systematically examine published literature which assessed the prevalence of academic difficulties in children with epilepsy (CWE) of normal intelligence, and its associating factors. METHODS: A search was conducted on five databases for articles published in English from 1980 till March 2015. Included were studies who recruited children (aged 5-18 years), with a diagnosis or newly/recurrent epilepsy, an intelligent quotient (IQ) of ≥70 or attending regular school, with or without a control group, which measured academic achievement using a standardised objective measure, and published in English...
July 20, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28751869/alterations-of-growth-factors-in-autism-and-attention-deficit-hyperactivity-disorder
#18
Alma Y Galvez-Contreras, Tania Campos-Ordonez, Rocio E Gonzalez-Castaneda, Oscar Gonzalez-Perez
Growth factors (GFs) are cytokines that regulate the neural development. Recent evidence indicates that alterations in the expression level of GFs during embryogenesis are linked to the pathophysiology and clinical manifestations of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorders (ASD). In this concise review, we summarize the current evidence that supports the role of brain-derived neurotrophic factor, insulin-like growth factor 2, hepatocyte growth factor (HGF), glial-derived neurotrophic factor, nerve growth factor, neurotrophins 3 and 4, and epidermal growth factor in the pathogenesis of ADHD and ASD...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28749421/dsm-5-changes-in-attention-deficit-hyperactivity-disorder-and-autism-spectrum-disorder-implications-for-comorbid-sleep-issues
#19
REVIEW
Ujjwal P Ramtekkar
Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) are the most common neurodevelopmental disorders. Despite significant comorbidity, the previous diagnostic criteria prohibited the simultaneous diagnosis of both disorders. Sleep problems are highly prevalent in both disorders; however, these have been studied independently for ADHD and ASD. In the context of revised criteria in the Diagnostic Statistical Manual of Mental Disorders 5th edition (DSM-5) that allows combined diagnosis of ADHD and ASD, this short review presents an overview of relationship between sleep problems, ADHD and ASD, as well as conceptualizing the shared pathophysiology...
July 27, 2017: Children
https://www.readbyqxmd.com/read/28749236/are-males-and-females-with-autism-spectrum-disorder-more-similar-than-we-thought
#20
Joanna L Mussey, Nicole C Ginn, Laura G Klinger
Differences in behavioral and cognitive profiles have been suggested to potentially impact the presentation of social and communication symptoms in females with autism spectrum disorder. This study examined gender differences in age of diagnosis, cognitive profiles, social communication symptomatology, and autism spectrum disorder symptom severity in a community-based sample of 566 males and 113 females with autism spectrum disorder ranging in age from 1 year, 9 months to 56 years, 4 months. Results suggest either very small or no gender differences in age at diagnosis, intelligence quotient, cognitive profiles, or autism spectrum disorder symptom severity...
August 2017: Autism: the International Journal of Research and Practice
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