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https://www.readbyqxmd.com/read/28545751/what-is-the-male-to-female-ratio-in-autism-spectrum-disorder-a-systematic-review-and-meta-analysis
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/28514869/bullying-related-behaviour-in-adolescents-with-autism-links-with-autism-severity-and-emotional-and-behavioural-problems
#5
Elian Fink, Tjeert Olthof, Frits Goossens, Sandra van der Meijden, Sander Begeer
This study examined the association between peer-reported bullying-related behaviours (bully, victim, outsider and defender), age, gender, autism severity and teacher-rated emotional and behavioural problems in adolescents with autism spectrum disorder, using a multi-informant approach. The sample comprised 120 adolescents (11% girls, Mage = 15.6 years, standard deviation = 1.89 years) attending a special school for children with autism. Results show that bullying decreased with age and was associated with behavioural problems, while victimisation was only associated with peer problems - a pattern of results comparable to studies exploring these associations in typically developing children...
May 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28480548/expanding-the-phenotypic-spectrum-of-truncating-pogz-mutations-association-with-cns-malformations-skeletal-abnormalities-and-distinctive-facial-dysmorphism
#6
Maria Lisa Dentici, Marcello Niceta, Francesca Pantaleoni, Sabina Barresi, Paola Bencivenga, Bruno Dallapiccola, Maria Cristina Digilio, Marco Tartaglia
Exome sequencing has led to the comprehension of the molecular bases of several forms of neurodevelopmental disorders, a clinically heterogeneous group of diseases characterized by intellectual disability (ID) and autism spectrum disorder (ASD). De novo mutations in POGZ has been causally linked to isolated ASD and syndromic ID, only recently. Here we report on a 15 year-old girl in whom exome sequencing allowed to identify a de novo POGZ truncating mutation as the molecular cause underlying a complex phenotype apparently not fitting any recognized syndrome...
May 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28474493/identifying-the-clinical-needs-and-patterns-of-health-service-use-of-adolescent-girls-and-women-with-autism-spectrum-disorder
#7
Ami Tint, Jonathan A Weiss, Yona Lunsky
Girls and women in the general population present with a distinct profile of clinical needs and use more associated health services compared to boys and men; however, research focused on health service use patterns among girls and women with Autism Spectrum Disorder (ASD) is limited. In the current study, caregivers of 61 adolescent girls and women with ASD and 223 boys and men with ASD completed an online survey. Descriptive analyses were conducted to better understand the clinical needs and associated service use patterns of girls and women with ASD...
May 5, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28472111/spatiotemporal-characteristics-of-gaze-of-children-with-autism-spectrum-disorders-while-looking-at-classroom-scenes
#8
Takahiro Higuchi, Yuko Ishizaki, Atsushi Noritake, Yoshitoki Yanagimoto, Hodaka Kobayashi, Kae Nakamura, Kazunari Kaneko
Children with autism spectrum disorders (ASD) who have neurodevelopmental impairments in social communication often refuse to go to school because of difficulties in learning in class. The exact cause of maladaptation to school in such children is unknown. We hypothesized that these children have difficulty in paying attention to objects at which teachers are pointing. We performed gaze behavior analysis of children with ASD to understand their difficulties in the classroom. The subjects were 26 children with ASD (19 boys and 7 girls; mean age, 8...
2017: PloS One
https://www.readbyqxmd.com/read/28464352/maternal-experience-raising-girls-with-autism-spectrum-disorder-a-qualitative-study
#9
N Navot, A G Jorgenson, S J Webb
BACKGROUND: A growing line of research has sought to characterize the different presentations of autism spectrum disorder (ASD) among boys and girls. Much less is known about maternal experience and mother-child relationship in children with ASD based on child gender. The present qualitative study aimed to investigate the mother-daughter relationship from the perspective of mothers who are raising girls with ASD with normal intelligence and functional verbal communication. METHODS: Eleven in-depth interviews were conducted with mothers of girls with ASD, ages 10-19 years...
May 2, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28413209/duplication-17p11-2-potocki-lupski-syndrome-in-a-child-with-developmental-delay
#10
S Shuib, N N Saaid, Z Zakaria, J Ismail, Z Abdul Latiff
Potocki-Lupski syndrome (PTLS), also known as duplication 17p11.2 syndrome, trisomy 17p11.2 or dup(17)(p11.2p11.2) syndrome, is a developmental disorder and a rare contiguous gene syndrome affecting 1 in 20,000 live births. Among the key features of such patients are autism spectrum disorder, learning disabilities, developmental delay, attention-deficit disorder, infantile hypotonia and cardiovascular abnormalities. Previous studies using microarray identified variations in the size and extent of the duplicated region of chromosome 17p11...
April 2017: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/28407444/familial-18q12-2-deletion-supports-the-role-of-rna-binding-protein-celf4-in-autism-spectrum-disorders
#11
Rita Barone, Marco Fichera, Mariaclara De Grandi, Marta Battaglia, Valeria Lo Faro, Teresa Mattina, Renata Rizzo
Deletion of 18q12.2 is an increasingly recognized condition with a distinct neuropsychiatric phenotype. Twenty-two patients have been described with overlapping neurobehavioral disturbances including developmental delay, intellectual disability of variable degree, seizures, motor coordination disorder, behavioral/emotional disturbances, and autism spectrum disorders. The CUGBP Elav-like family member 4 (CELF4) gene at 18q12.2 encodes a RNA-binding protein that links to RNA subsets involved in pre- and postsynaptic neurotransmission including almost 30% of potential autism-related genes...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28400740/c-command-in-the-grammars-of-children-with-high-functioning-autism
#12
Neha Khetrapal, Rosalind Thornton
A recent study questioned the adherence of children with Autism Spectrum Disorders (ASD) to a linguistic constraint on the use of reflexive pronouns (Principle A) in sentences like Bart's dad is touching himself. This led researchers to question whether children with ASD are able to compute the hierarchical structural relationship of c-command, and raised the possibility that the children rely on a linear strategy for reference assignment. The current study investigates the status of c-command in children with ASD by testing their interpretation of sentences like (1) and (2) that tease apart use of c-command and a linear strategy for reference assignment...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28356742/some-children-with-autism-have-latent-social-skills-that-can-be-tested
#13
Michal Hrdlicka, Tomas Urbanek, Maria Vacova, Stepanka Beranova, Iva Dudova
BACKGROUND: The idea of latent social skills in autism emerged as a possible interpretation of the rapid (but temporary) improvement of autistic subjects in oxytocin studies. We tested a hypothesis that a normal response to Item No 59 "Secure Base" from the third version of the Autism Diagnostic Interview - Revised (ADIR-59) could indicate the presence of latent social skills in autism. METHODS: We examined 110 autistic children (88 boys and 22 girls) with a mean age of 6...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28343847/global-developmental-delay-and-intellectual-disability-associated-with-a-de-novo-top2b-mutation
#14
Ching-Wan Lam, Wai-Lan Yeung, Chun-Yiu Law
BACKGROUND: More than 100 genes had been identified for autism spectrum disorder (ASD). With the advancement of whole-exome/genome sequencing (WES/WGS), disease-causing gene in ASD can be identified in a holistic and unbiased approach. The identification of new ASD genes can further explore the molecular basis of ASD. METHODS: We report a 15yo girl with developmental delay, intellectual disability, hypotonia, microcephaly and autistic feature. She first presented at 6months old with primitive response to noise...
March 23, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28337952/prenatal-maternal-stress-shapes-children-s-theory-of-mind-the-qf2011-queensland-flood-study
#15
G Simcock, S Kildea, G Elgbeili, D P Laplante, V Cobham, S King
Research shows that stress in pregnancy has powerful and enduring effects on many facets of child development, including increases in behavior problems and neurodevelopmental disorders. Theory of mind is an important aspect of child development that is predictive of successful social functioning and is impaired in children with autism. A number of factors related to individual differences in theory of mind have been identified, but whether theory of mind development is shaped by prenatal events has not yet been examined...
March 24, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/28334947/protocadherin-19-pcdh19-interacts-with-paraspeckle-protein-nono-to-co-regulate-gene-expression-with-estrogen-receptor-alpha-er%C3%AE
#16
Duyen H Pham, Chuan C Tan, Claire C Homan, Kristy L Kolc, Mark A Corbett, Dale McAninch, Archa H Fox, Paul Q Thomas, Raman Kumar, Jozef Gecz
De novo and inherited mutations of X-chromosome cell adhesion molecule protocadherin 19 (PCDH19) cause frequent, highly variable epilepsy, autism, cognitive decline and behavioural problems syndrome. Intriguingly, hemizygous null males are not affected while heterozygous females are, contradicting established X-chromosome inheritance. The disease mechanism is not known. Cellular mosaicism is the likely driver. We have identified p54nrb/NONO, a multifunctional nuclear paraspeckle protein with known roles in nuclear hormone receptor gene regulation, as a PCDH19 protein interacting partner...
June 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28326792/-i-was-just-so-different-the-experiences-of-women-diagnosed-with-an-autism-spectrum-disorder-in-adulthood-in-relation-to-gender-and-social-relationships
#17
Lucie Kanfiszer, Fran Davies, Suzanne Collins
Existing literature exploring autism spectrum disorders within female populations predominantly utilises quantitative methodology. A limited number of small-scale, qualitative studies have explored the experiences of adolescent girls with autism spectrum disorder, but adult women have remained largely unheard. This study aims to broaden the stories told within autobiographical literature and empower those within the wider community of women with autism spectrum disorder. In doing so, it seeks to extend existing conceptualisations of experience to include socially and culturally located factors...
March 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28300954/selection-of-words-for-implementation-of-the-picture-exchange-communication-system-pecs-in-non-verbal-autistic-children
#18
Carine Ferreira, Monica Bevilacqua, Mariana Ishihara, Aline Fiori, Aline Armonia, Jacy Perissinoto, Ana Carina Tamanaha
Purpose: It is known that some autistic individuals are considered non-verbal, since they are unable to use verbal language and barely use gestures to compensate for the absence of speech. Therefore, these individuals' ability to communicate may benefit from the use of the Picture Exchange Communication System - PECS. The objective of this study was to verify the most frequently used words in the implementation of PECS in autistic children, and on a complementary basis, to analyze the correlation between the frequency of these words and the rate of maladaptive behaviors...
March 9, 2017: CoDAS
https://www.readbyqxmd.com/read/28289594/a-9-year-old-girl-with-phelan-mcdermid-syndrome-who-had-been-diagnosed-with-an-autism-spectrum-disorder
#19
I Görker, H Gürkan, S Demir Ulusal, E Atlı, E Ikbal Atlı
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28287270/parent-reported-differences-between-school-aged-girls-and-boys-on-the-autism-spectrum
#20
Rebecca Sutherland, Antoinette Hodge, Susan Bruck, Debra Costley, Helen Klieve
More boys than girls are diagnosed with autism spectrum disorder; however, there are conflicting findings about whether they differ in their presentation. This study involved a survey of parents of school-aged children on the autism spectrum (171 parents of girls and 163 parents of boys) that was distributed via social media. The surveys provided insights regarding the characteristics of boys and girls (as perceived by parents) as well as some demographic information. There were very few differences reported regarding communication and social strengths and difficulties of boys and girls with autism...
March 1, 2017: Autism: the International Journal of Research and Practice
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