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https://www.readbyqxmd.com/read/28807762/diagnostic-exome-sequencing-identifies-a-heterozygous-mbd5-frameshift-mutation-in-a-family-with-intellectual-disability-and-epilepsy
#1
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
#2
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/28801936/normative-data-and-psychometric-properties-of-a-farsi-translation-of-the-strange-stories-test
#3
Zahra Shahrivar, Mehdi Tehrani-Doost, Anahita Khorrami Banaraki, Azar Mohammadzadeh, Francesca Happe
BACKGROUND AND OBJECTIVE: The Strange Stories test is one of the most commonly used tests to evaluate advanced "theory of mind," i.e. attribution of mental states. Normative data and psychometric properties of a new Farsi translation of this test were evaluated in a large community-based sample of Iranian school-aged children. METHODS: Through randomized cluster sampling, 398 children aged 9-11 years studying at 20 elementary schools were recruited from 4 central regions of Tehran, Iran...
August 11, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28796925/neurological-comorbidity-in-children-with-neurofibromatosis-type-1
#4
Keiko Hirabaru, Muneaki Matsuo
OBJECTIVE: To determine the frequency of central nervous system comorbidities in children with neurofibromatosis type 1 (NF1). METHODS: We performed a nationwide survey to investigate neurological comorbidities in 3-15-year-old children with NF1 in Japan by sending questionnaires to pediatricians and pediatric neurologists. A secondary questionnaire was sent to the parents of identified NF1 patients to assess neurological comorbidities including headache, attention deficit hyperactivity disorder (ADHD)-Rating Scale (RS), and the Social Responsiveness Scale -2...
August 10, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28774669/neurodevelopmental-disorders-in-children-with-macrocephaly-a-prevalence-study-and-pten-gene-analysis
#5
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/28749237/towards-understanding-the-under-recognition-of-girls-and-women-on-the-autism-spectrum
#6
Judith Gould
No abstract text is available yet for this article.
August 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28742278/agenesis-of-the-corpus-callosum-developmental-delay-autism-spectrum-disorder-facial-dysmorphism-and-posterior-polymorphous-corneal-dystrophy-associated-with-zeb1-gene-deletion
#7
Ayeshah Chaudhry, Brian H Chung, Dimitri J Stavropoulos, Marcela P Araya, Asim Ali, Elise Heon, David Chitayat
We report on a girl diagnosed prenatally with agenesis of the corpus callosum (ACC) on fetal ultrasound and MRI. On postnatal follow-up she was noted to have developmental delay, facial dysmorphism, autism spectrum disorder, and posterior polymorphous corneal dystrophy (PPD). Array-comparative genomic hybridization analysis (Array-CGH) showed a 2.05 Mb de novo interstitial deletion at 10p11.23p11.22. The deleted region overlaps 1 OMIM Morbid Map gene, ZEB1 (the zinc finger E-box binding homeobox transcription factor 1), previously associated with posterior polymorphous corneal dystrophy type 3 (PPCD3)...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28727509/music-and-on-task-behaviors-in-preschool-children-with-autism-spectrum-disorder
#8
Shannon Titus Dieringer, David L Porretta, Diane Sainato
The purpose of our study was to determine the effect of music (music with lyrics versus music with lyrics plus instruction) relative to on-task behaviors in preschool children with autism spectrum disorder (ASD) in a gross motor setting. Five preschool children (4 boys, 1 girl) diagnosed with ASD served as participants. A multiple baseline across participants in conjunction with an alternating-treatment design was used. For all participants, music with lyrics plus instruction increased on-task behaviors to a greater extent than did music with lyrics...
July 2017: Adapted Physical Activity Quarterly: APAQ
https://www.readbyqxmd.com/read/28703319/brain-carnitine-deficiency-causes-nonsyndromic-autism-with-an-extreme-male-bias-a-hypothesis
#9
REVIEW
Arthur L Beaudet
Could 10-20% of autism be prevented? We hypothesize that nonsyndromic or "essential" autism involves extreme male bias in infants who are genetically normal, but they develop deficiency of carnitine and perhaps other nutrients in the brain causing autism that may be amenable to early reversal and prevention. That brain carnitine deficiency might cause autism is suggested by reports of severe carnitine deficiency in autism and by evidence that TMLHE deficiency - a defect in carnitine biosynthesis - is a risk factor for autism...
August 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/28691542/cross-cultural-validation-of-the-york-measure-of-quality-of-intensive-behavioral-intervention
#10
Ulrika Långh, Elodie Cauvet, Martin Hammar, Sven Bölte
Early intensive behavioral intervention (EIBI) is widely applied in young children with autism spectrum disorder. Little research has addressed the significance of adherence to EIBI practices for treatment outcomes. The York Measure of Quality of Intensive Behavioral Intervention (YMQI) was designed to assess EIBI quality delivery in Ontario, Canada. The objective of this study was to examine the cross-cultural validity of the YMQI in a clinical Swedish community sample of 30 boys and four girls with autism aged 2...
July 1, 2017: Behavior Modification
https://www.readbyqxmd.com/read/28685398/developmental-changes-in-pretend-play-from-22-to-34-months-in-younger-siblings-of-children-with-autism-spectrum-disorder
#11
Susan B Campbell, Amanda S Mahoney, Jessie Northrup, Elizabeth L Moore, Nina B Leezenbaum, Celia A Brownell
Developmental trajectories of children's pretend play and social engagement, as well as parent sensitivity and stimulation, were examined in toddlers with an older sibling with autism spectrum disorder (ASD, high risk; HR) and toddlers with typically-developing older siblings (low risk; LR). Children (N = 168, 97 boys, 71 girls) were observed at 22, 28, and 34 months during free play with a parent and elicited pretend play with an examiner. At 28 and 34 months, children were asked to imagine the consequences of actions pantomimed by the examiner on a pretend transformation task...
July 7, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/28680319/increased-hyperacusis-with-risperidone-in-an-autistic-child
#12
Aslı Sürer Adanir, Özge Gizli Çoban, Esin Özatalay
Autistic spectrum disorder is a neurodevelopmental disorder characterized by qualitative impairment in social interactions and communication skills. In addition to these core features, sensory processing abnormalities such as auditory hypersensitivity have been frequently reported. Although the cause of auditory hypersensitivity remains unknown, it is thought to be associated with decreased inhibitory processing, possibly resulting from an abnormal sensory gating system or dysfunction of inhibitory interneurons...
June 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28671426/vaccine-adverse-events-separating-myth-from-reality
#13
REVIEW
Jeanne P Spencer, Ruth H Trondsen Pawlowski, Stephanie Thomas
Vaccines are one of the most successful medical advances in modern times. Most vaccine-preventable illnesses are unfamiliar to modern parents. Because of this, parents are increasingly questioning the necessity of immunizing their children, especially because no vaccine is completely free of adverse effects or the risk of complications. Family physicians should be aware of the risks and benefits of recommended immunizations. Thimerosal is currently used only in multidose vials of influenza vaccine, and exposure through vaccines is not associated with adverse neurologic outcomes...
June 15, 2017: American Family Physician
https://www.readbyqxmd.com/read/28664504/assessment-of-gender-and-age-effects-on-serum-and-hair-trace-element-levels-in-children-with-autism-spectrum-disorder
#14
Anatoly V Skalny, Natalia V Simashkova, Anastasia A Skalnaya, Tatiana P Klyushnik, Geir Bjørklund, Margarita G Skalnaya, Alexey A Tinkov
The primary objective of the present study was to investigate the levels of essential trace elements in hair and serum in children with autism spectrum disorder (ASD) and investigate the age and gender effects. Children with ASD were characterized by significantly higher levels of copper (Cu) (+8%), iron (Fe) (+5%), and selenium (Se) (+13%) levels in hair and only 8% higher serum Cu levels. After stratification for gender, ASD boys were characterized by significantly increased hair Cu (+ 25%), Fe (+ 25%), and Se (+ 9%) levels, whereas in girls only Se content was elevated (+ 15%)...
June 29, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28622159/weeding-out-the-justification-for-marijuana-treatment-in-patients-with-developmental-and-behavioral-conditions
#15
Theodora Nelson, Yi Hui Liu, Kara S Bagot, Martin T Stein
Alex is a 13-year-old adolescent with high-functioning autism spectrum disorder, attention-deficit/hyperactivity disorder (ADHD)-combined type, anxiety, and depression. He has been resistant to engaging in therapy and treatment with various medications has been unsuccessful. Alex's parents are concerned about his anxiety, isolation, oppositional behaviors, academic underachievement, truancy, and substance use. A recent altercation with his stepfather led to a police intervention and a brief removal of Alex from the home...
July 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28618130/benefits-of-an-individualized-perioperative-plan-for-children-with-autism-spectrum-disorder
#16
Jo S Swartz, Karen E Amos, Mirna Brindas, Linda G Girling, M Ruth Graham
BACKGROUND: Perioperative care for children with autism spectrum disorder may be challenging. Previous investigators recommend development of an individualized perioperative management plan with caregiver involvement. AIM: The primary goal was to determine the usefulness of an individualized plan based on the decision to provide preoperative sedation stratified by autism spectrum severity level. Secondary goals were to assess the effectiveness of the plan based on subjective assessment of patient behavior at induction of anesthesia and caregiver satisfaction...
August 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28545751/what-is-the-male-to-female-ratio-in-autism-spectrum-disorder-a-systematic-review-and-meta-analysis
#17
REVIEW
Rachel Loomes, Laura Hull, William Polmear Locke Mandy
OBJECTIVE: To derive the first systematically calculated estimate of the relative proportion of boys and girls with autism spectrum disorder (ASD) through a meta-analysis of prevalence studies conducted since the introduction of the DSM-IV and the International Classification of Diseases, Tenth Revision. METHOD: Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed. The Medline, Embase, and PsycINFO databases were searched, and study quality was rated using a risk-of-bias tool...
June 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28545673/burst-suppression-pattern-on-electroencephalogram-secondary-to-valproic-acid-induced-hyperammonemic-encephalopathy
#18
Koshi A Cherian, Alan D Legatt
BACKGROUND: Valproic acid may induce hyperammonemic encephalopathy. Various electroencephalogram (EEG) abnormalities have been documented in association with this condition, but not burst suppression, an abnormal EEG pattern that is associated with severe encephalopathy. METHODS: Serial EEGs, clinical observations, and laboratory findings were analyzed. PATIENT DESCRIPTION: This 13-year-old girl with autism and intractable epilepsy experienced increased seizures; her valproic acid dose was increased and other antiepileptic drugs were administered...
January 4, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28529667/motor-problems-in-children-with-neurofibromatosis-type-1
#19
André B Rietman, Rianne Oostenbrink, Sanne Bongers, Eddy Gaukema, Sandra van Abeelen, Jos G Hendriksen, Caspar W N Looman, Pieter F A de Nijs, Marie-Claire de Wit
BACKGROUND: Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in approximately one third to one half of the children with NF1. Studies using broad motor performance test batteries with relatively large groups of children with NF1 are limited. The aim of this cross-sectional observational study was to describe the severity of motor problems in children with NF1 and to explore the predictive value of demographics, intelligence, and behavioural problems...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28524230/the-etiology-of-autistic-traits-in-preschoolers-a-population-based-twin-study
#20
Eveline L de Zeeuw, Catharina E M van Beijsterveldt, Rosa A Hoekstra, Meike Bartels, Dorret I Boomsma
BACKGROUND: Autism Spectrum Disorders (ASD) are highly heritable, but the exact etiological mechanisms underlying the condition are still unclear. METHODS: Using a multiple rater twin design in a large sample of general population preschool twins, this study aimed to (a) estimate the contribution of genetic and environmental factors to autistic traits, controlling for the possible effects of rater bias, (b) to explore possible sex differences in etiology and (c) to investigate the discordance in autistic traits in monozygotic and same-sex dizygotic twin pairs...
May 19, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
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