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https://www.readbyqxmd.com/read/29327328/genetic-analysis-of-very-obese-children-with-autism-spectrum-disorder
#1
Herman D Cortes, Rachel Wevrick
Autism spectrum disorder (ASD) is defined by the triad of deficits in social interactions, deficits in communication, and repetitive behaviors. Common co-morbidities in syndromic forms of ASD include intellectual disability, seizures, and obesity. We asked whether very obese children with ASD had different behavioral, physical and genetic characteristics compared to children with ASD who were not obese. We found that very obese children with ASD had significantly poorer scores on standardized behavioral tests...
January 11, 2018: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29318608/functional-analysis-and-treatment-of-problem-behavior-related-to-mands-for-rearrangement
#2
REVIEW
Mariana Torres-Viso, Craig W Strohmeier, Jennifer R Zarcone
This study is a systematic replication of a functional analysis (FA) of the relation between mands and problem behavior. We extended treatment approaches for this problem behavior function, and describe the treatment of problem behavior related to mands for rearrangement demonstrated by a 12-year-old girl with autism spectrum disorder and Smith-Magenis syndrome. The mands consisted of requests for others to change their body positioning or proximity, or rearrange items back to their original position. An FA confirmed the relation between problem behavior and mand compliance, and functional communication training with extinction decreased problem behavior and increased functional communication responses...
January 10, 2018: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/29303456/bobble-head-doll-syndrome-report-of-2-cases-and-a-review-of-the-literature-with-video-documentation-of-the-clinical-phenomenon
#3
Bryan Renne, Stefan Rueckriegel, Sudheesh Ramachandran, Julia Radic, Paul Steinbok, Ash Singhal
Bobble-head doll syndrome (BHDS) is a rare pediatric movement disorder presenting with involuntary 2- to 3-Hz head movements. Common signs and symptoms also found on presentation include macrocephaly, ataxia, developmental delay, optic disc pallor or atrophy, hyperreflexia, tremor, obesity, endocrinopathy, visual disturbance or impairment, headache, and vomiting, among others. The syndrome is associated with suprasellar cysts, third ventricular cysts, or aqueductal obstruction, along with a few other less common conditions...
January 5, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29299606/association-of-maternal-use-of-folic-acid-and-multivitamin-supplements-in-the-periods-before-and-during-pregnancy-with-the-risk-of-autism-spectrum-disorder-in-offspring
#4
Stephen Z Levine, Arad Kodesh, Alexander Viktorin, Lauren Smith, Rudolf Uher, Abraham Reichenberg, Sven Sandin
Importance: The association of maternal use of folic acid and multivitamin supplements before and during pregnancy with the risk of autism spectrum disorder (ASD) in offspring is unclear. Objective: To examine the associations between the use of maternal folic acid and multivitamin supplements before and during pregnancy and the risk of ASD in offspring. Design, Setting, and Participants: A case-control cohort study of 45 300 Israeli children born between January 1, 2003, and December 31, 2007, were followed up from birth to January 26, 2015, for the risk of ASD...
January 3, 2018: JAMA Psychiatry
https://www.readbyqxmd.com/read/29244797/association-between-maternal-hypothyroidism-and-autism-spectrum-disorders-in-the-children
#5
Darios Getahun, Steven J Jacobsen, Michael J Fassett, Deborah A Wing, Anny H Xiang, Vicki Chiu, Morgan R Peltier
OBJECTIVE: To determine if hypothyroidism is associated with ASD and how this association is influenced by race-ethnicity, sex, and timing of exposure. METHODS: A retrospective cohort study was conducted using records from 397201 children who were delivered from 1991-2011 and remained health plan members from 1993-2014. RESULTS: Children of hypothyroid women had higher ASD rates than children of women without the diagnosis (2.14 vs. 1.62/1000 person-years; and adjusted hazard ratios [adj...
December 15, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29235982/estimated-prevalence-of-children-with-diagnosed-developmental-disabilities-in-the-united-states-2014-2016
#6
Benjamin Zablotsky, Lindsey I Black, Stephen J Blumberg
Key findings Data from the National Health Interview Survey ● During 2014-2016, the prevalence of children aged 3-17 years who had ever been diagnosed with a developmental disability increased from 5.76% to 6.99%. ● During this same time, the prevalence of diagnosed autism spectrum disorder and intellectual disability did not change significantly. ● The prevalence of autism spectrum disorder, intellectual disability, other developmental delay, and any developmental disability was higher among boys compared with girls...
November 2017: NCHS Data Brief
https://www.readbyqxmd.com/read/29218603/characteristics-of-unintentional-drowning-deaths-in-children-with-autism%C3%A2-spectrum-disorder
#7
Joseph Guan, Guohua Li
BACKGROUND: The reported prevalence of autism spectrum disorder (ASD) has increased markedly in the past two decades. Recent research indicates that children with ASD are at a substantially increased risk of injury mortality, particularly from unintentional drowning. The purpose of this study was to explore the circumstances of fatal unintentional drowning incidents involving children with ASD under 15 years of age. FINDINGS: During January 2000 through May 2017, US newspapers reported a total of 23 fatal drowning incidents involving 18 boys and 5 girls with ASD...
December 8, 2017: Injury Epidemiology
https://www.readbyqxmd.com/read/29214139/the-effects-of-advance-notice-on-problem-behavior-occasioned-by-interruptions-of-an-ongoing-activity-in-a-young-girl-with-autism
#8
Stephanie Vasquez, Adam Brewer, Yanerys Leon, Janet Vasquez
The current study describes a trial-based functional analysis of problem behavior conducted in a home setting for a 7-year-old girl with autism. Problem behavior was occasioned by interruptions to an ongoing activity. Advance notice, in the form of a 2-min warning, and the sound of a timer were used to signal termination of a current activity and were effective at reducing problem behavior along with increasing compliance to the interruptive demands. A trial-based functional analysis, which are not common in the applied literature, was conducted in a home setting for young girl with autism, using antecedent and consequence modifications described by Hagopian, Bruzek, Bowman, and Jennett (2007), identified the variables that occasioned and maintained problem behavior were interruptions to an ongoing activity followed by regaining uninterrupted access to the previous activity...
December 2017: Behavior Analysis in Practice
https://www.readbyqxmd.com/read/29204929/what-about-the-girls-sex-based-differences-in-autistic-traits-and-adaptive-skills
#9
Allison B Ratto, Lauren Kenworthy, Benjamin E Yerys, Julia Bascom, Andrea Trubanova Wieckowski, Susan W White, Gregory L Wallace, Cara Pugliese, Robert T Schultz, Thomas H Ollendick, Angela Scarpa, Sydney Seese, Kelly Register-Brown, Alex Martin, Laura Gutermuth Anthony
There is growing evidence of a camouflaging effect among females with autism spectrum disorder (ASD), particularly among those without intellectual disability, which may affect performance on gold-standard diagnostic measures. This study utilized an age- and IQ-matched sample of school-aged youth (n = 228) diagnosed with ASD to assess sex differences on the ADOS and ADI-R, parent-reported autistic traits, and adaptive skills. Although females and males were rated similarly on gold-standard diagnostic measures overall, females with higher IQs were less likely to meet criteria on the ADI-R...
December 4, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29196732/human-crmp4-mutation-and-disrupted-crmp4-expression-in-mice-are-associated-with-asd-characteristics-and-sexual-dimorphism
#10
Atsuhiro Tsutiya, Yui Nakano, Emily Hansen-Kiss, Benjamin Kelly, Masugi Nishihara, Yoshio Goshima, Don Corsmeier, Peter White, Gail E Herman, Ritsuko Ohtani-Kaneko
Autism spectrum disorders (ASD) are more common among boys than girls. The mechanisms responsible for ASD symptoms and their sex differences remain mostly unclear. We previously identified collapsin response mediator protein 4 (CRMP4) as a protein exhibiting sex-different expression during sexual differentiation of the hypothalamic sexually dimorphic nucleus. This study investigated the relationship between the sex-different development of autistic features and CRMP4 deficiency. Whole-exome sequencing detected a de novo variant (S541Y) of CRMP4 in a male ASD patient...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29189916/improving-efficiency-and-quality-of-the-children-s-asd-diagnostic-pathway-lessons-learned-from-practice
#11
Marion Rutherford, Morag Burns, Duncan Gray, Lynne Bremner, Sarah Clegg, Lucy Russell, Charlie Smith, Anne O'Hare
The 'autism diagnosis crisis' and long waiting times for assessment are as yet unresolved, leading to undue stress and limiting access to effective support. There is therefore a significant need for evidence to support practitioners in the development of efficient services, delivering acceptable waiting times and effectively meeting guideline standards. This study reports statistically significant reductions in waiting times for autism diagnostic assessment following a children's health service improvement programme...
November 30, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29168313/children-with-blindness-major-causes-developmental-outcomes-and-implications-for-habilitation-and-educational-support-a-two-decade-swedish-population-based-study
#12
Kim de Verdier, Ek Ulla, Stefan Löfgren, Elisabeth Fernell
PURPOSE: The aim was to describe the population of children with congenital or early infancy blindness in Sweden, with regard to causes of blindness and prevalence of neurodevelopmental impairments. METHODS: Medical, psychological and pedagogical records of Swedish children with congenital or early infancy blindness (total blindness or light perception at the most) born in 1988-2008 were analysed regarding year of birth, gender, cause of blindness, gestational age, associated neurological disorders/syndromes, associated neurodevelopmental impairments, cognitive level and type of school placement...
November 23, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29146211/using-parent-and-self-reports-to-evaluate-eating-disturbances-in-young-girls-with-autism-spectrum-disorder
#13
Vicki Bitsika, Christopher F Sharpley
BACKGROUND: Eating Disturbances (ED) often occur in Autism Spectrum Disorder (ASD) but most previous studies have relied on parent-reported data about males with ASD. Few studies have collected data from younger girls with ASD using self-reports and parents' reports. AIMS: To compare self-reports and parents' reports of ED in a sample of 52 young girls with ASD, a standardised scale for ED was revised for use with younger girls with ASD. METHODS: Mothers of 52 girls with ASD aged from 6 to 17 years completed the Swedish Eating Assessment for Autism spectrum disorders (SWEAA) on their daughters; the girls also completed the SWEAA as a self-report...
November 13, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29141250/a-small-supernumerary-marker-derived-from-the-pericentromeric-region-of-chromosome-5-case-report-and-delineation-of-partial-trisomy-5p-phenotype
#14
Letizia Camerota, Mariabernarda Pitzianti, Diana Postorivo, Anna M Nardone, Claudio Ligas, Costanzo Moretti, Augusto Pasini, Francesco Brancati
A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional cytogenetic analyses from peripheral blood revealed a mosaic small supernumerary marker chromosome (sSMC) with a mos 47,XX,+mar[7]/46,XX[43] karyotype. By cenM-FISH technique, the sSMC was identified as a ring derivative of chromosome 5...
November 16, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29119519/brief-report-physical-activity-body-mass-index-and-arterial-stiffness-in-children-with-autism-spectrum-disorder-preliminary-findings
#15
Kevin S Heffernan, Luis Columna, Natalie Russo, Beth A Myers, Christine E Ashby, Michael L Norris, Tiago V Barreira
We examined the association between physical activity (PA), body mass index (BMI) and novel measures of subclinical cardiovascular disease (CVD) in 15 children with autism spectrum disorder (ASD) (mean age 7 ± 2 years, 2 girls). PA was objectively assessed using accelerometry as time spent in moderate-vigorous physical activity (MVPA). Arterial stiffness was measured via aortic pulse wave velocity (PWV) and taken as a marker of subclinical CVD risk. MVPA was inversely associated with aortic PWV (r = - 0...
November 8, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29115163/further-evaluation-of-presentation-format-of-competing-stimuli-for-treatment-of-automatically-maintained-challenging-behavior
#16
Casey J Clay, Annie M Clohisy, Alexandra M Ball, Aqdas F Haider, Brittany A Schmitz, SungWoo Kahng
Behavioral interventions have been effective in reducing automatically maintained skin picking for individuals with disabilities including autism spectrum disorder (ASD). A competing stimulus assessment (CSA) is typically utilized in behavioral intervention and assessment to identify potential stimuli which compete with the reinforcer for various forms of challenging behavior (CB). Treatment evaluations have validated the results of these assessments by demonstrating competing stimuli may reduce levels of CB...
November 1, 2017: Behavior Modification
https://www.readbyqxmd.com/read/29090595/increasing-object-substitution-symbolic-play-in-young-children-with-autism-spectrum-disorders
#17
Gabrielle T Lee, Hua Feng, Sheng Xu, Shao-Ju Jin
Children with autism spectrum disorders (ASD) may not develop symbolic play skills, so such skills need to be taught specifically. We report an experiment regarding a procedure targeting "object-substitution" symbolic play skills. The "object-substitution" symbolic play behavior occurred when the child labeled a common object with the name of a substitute and used the object to perform a play action (e.g., As she put a bowl on her head, she called it a hat). A multiple probe across behaviors design was employed with five children (four boys and one girl, aged 3 to 6 years) with ASD...
October 1, 2017: Behavior Modification
https://www.readbyqxmd.com/read/29075622/autistic-siblings-with-novel-mutations-in-two-different-genes-insight-for-genetic-workups-of-autistic-siblings-and-connection-to-mitochondrial-dysfunction
#18
Barrett J Burger, Shannon Rose, Sirish C Bennuri, Pritmohinder S Gill, Marie L Tippett, Leanna Delhey, Stepan Melnyk, Richard E Frye
The prevalence of autism spectrum disorder (ASD) is high, yet the etiology of this disorder is still uncertain. Advancements in genetic analysis have provided the ability to identify potential genetic changes that may contribute to ASD. Interestingly, several genetic syndromes have been linked to metabolic dysfunction, suggesting an avenue for treatment. In this case study, we report siblings with ASD who had similar initial phenotypic presentations. Whole exome sequencing (WES) revealed a novel c.795delT mutation in the WDR45 gene affecting the girl, which was consistent with her eventual progression to a Rett-like syndrome phenotype including seizures along with a stereotypical cyclic breathing pattern...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29074463/disruption-of-at-hook-1-domain-in-mecp2-protein-caused-behavioral-abnormality-in-mice
#19
Miaojing Xu, Pingping Song, Wei Huang, Rongni He, Yong He, Xiao Zhou, Yong Gu, Suyue Pan, Yafang Hu
MECP2 is the causative gene for autism spectrum disorders, including Rett syndrome, a regressive neurodevelopmental rare disease mainly occurring in girls. Except for the distinct methyl-CpG binding domain and the transcriptional repression domain in MeCP2, three AT-hook-like domains have recently been identified. Several mutations in AT-hook 1 domain have been reported in autism cases or Rett database. However, the role of AT-hook 1 domain is still unclear. In this study, we generated a mouse line carrying deletion of eight conserved amino acids in AT-hook 1 domain by clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 technology...
October 24, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29045959/-prevalence-of-autism-spectrum-disorders-in-children-aged-0-6-years-in-china-a-meta-analysis
#20
H F Shi, J X Zhang, R Zhang, X L Wang
OBJECTIVE: To estimate the prevalence and trend of autism spectrum disorders (ASD) in children aged 0-6 years in China. METHODS: Systematic literature searches were conducted in PubMed, Web of Science, Scopus, China National Knowledge Infrastructure (CNKI), Chinese Biomedical Literature Database (CBM), Wanfang and Weipu Database (VIP ), and the literatures published before February 25, 2017 were selected according to the same criteria. Prevalence Data of three periods were abstracted, then pooled using random effect model...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
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