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https://www.readbyqxmd.com/read/29146211/using-parent-and-self-reports-to-evaluate-eating-disturbances-in-young-girls-with-autism-spectrum-disorder
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/29022174/challenges-of-females-with-autism-a-parental-perspective
#9
Marilena Mademtzi, Pavita Singh, Fred Shic, Kathy Koenig
Most studies investigating the experiences and needs of individuals with ASD have largely focused on males. Hence, this study investigates parents' perspectives on the challenges that their daughters with ASD face. In total, 40 parents of 40 females with autism (age range = 4-29 years; mean = 15.9) participated in the study. Five separate, 2-h long focus groups were conducted, with 7-10 participants in each group. Field notes were analyzed using thematic analysis. Some of the issues parents discussed were similar to those experienced by males with ASD, such as challenges in social interactions...
October 11, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29021889/linguistic-camouflage-in-girls-with-autism-spectrum-disorder
#10
Julia Parish-Morris, Mark Y Liberman, Christopher Cieri, John D Herrington, Benjamin E Yerys, Leila Bateman, Joseph Donaher, Emily Ferguson, Juhi Pandey, Robert T Schultz
BACKGROUND: Autism spectrum disorder (ASD) is diagnosed more frequently in boys than girls, even when girls are equally symptomatic. Cutting-edge behavioral imaging has detected "camouflaging" in girls with ASD, wherein social behaviors appear superficially typical, complicating diagnosis. The present study explores a new kind of camouflage based on language differences. Pauses during conversation can be filled with words like UM or UH, but research suggests that these two words are pragmatically distinct (e...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28977067/barriers-to-early-identification-of-autism-in-brazil
#11
Sabrina H Ribeiro, Cristiane S de Paula, Daniela Bordini, Jair J Mari, Sheila C Caetano
OBJECTIVE: Parents of children with autism spectrum disorders (ASD) seem to perceive that their child's development is not following the normal pattern as early as the first year of life. However, ASD children may not receive a diagnosis until they are of preschool age, especially in low- and middle-income countries. The objective of this study was to evaluate the pathway between initial parental concerns about atypical child development and ASD diagnosis in Brazil. METHODS: Nineteen mothers whose children had been diagnosed with ASD participated and were interviewed...
October 2, 2017: Revista Brasileira de Psiquiatria
https://www.readbyqxmd.com/read/28967461/clinical-manifestations-associated-with-the-n-terminal-acetyltransferase-naa10-gene-mutation-in-a-girl-ogden-syndrome
#12
Mandeep Sidhu, Lauren Brady, Mark Tarnopolsky, Gabriel M Ronen
BACKGROUND: Ogden syndrome is a rare X-linked disorder caused by pathogenic variants in the NAA10 gene. This syndrome, reported in just over 20 children, has been associated with dysmorphic features, failure to thrive, developmental impairments, hypotonia, and cardiac arrhythmias. PATIENT DESCRIPTION: We describe a 14-year-old girl who presented in infancy with hypotonia, global developmental delay, and dysmorphic features. She later developed autism spectrum disorder, epileptic encephalopathy, extrapyramidal signs, early morning lethargy with hypersomnolence, and hypertension with left ventricular hypertrophy...
July 19, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28936814/-the-role-of-molecular-karyotyping-in-the-genetic-etiology-of-autism
#13
Burcu Özbaran, Bilçağ Akgün, Duygu Kaçamak, Sezen Köse, Ayşenur Kavasoğlu, Hüseyin Onay
OBJECTIVE: The aim of this study was to investigate the deletions and duplications with a molecular karyotyping technique and to elucidate the etiology of autism. METHOD: A total of 31 patients (20 boys and 11 girls) between 4 to 18 years old with normal chromosomal analysis and no Fragile X mutation were diagnosed in the Ege University Child and Adolescent Psychiatry Clinic with autism (according to DSM-IV-TR criteria) and were enrolled in the study. Symptom severity of the patients was evaluated with a Childhood Autism Rating Scale...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28910929/-cross-sectional-survey-of-autism-spectrum-disorders-in-children-aged-0-6-years-in-hainan-province
#14
L Li, X L Li, W X Wu, X F Cai, X L Fan, X H Wei, T T Sun
Objective: To understand the prevalence of autism spectrum disorders (ASD) in children aged 0-6 years old and influencing factors in Hainan province. Methods: A total of 37 862 children aged 0-6 years were selected from 18 counties in Hainan province for a screening by using questionnaire of"warning signs in child development", then field diagnosis was made, and general descriptive statistic analysis was conducted. The prevalence of ASD and related factors were analyzed with χ(2) test and unconditional logistic regression model...
September 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28895873/prenatal-serum-concentrations-of-brominated-flame-retardants-and-autism-spectrum-disorder-and-intellectual-disability-in-the-early-markers-of-autism-study-a-population-based-case-control-study-in-california
#15
Kristen Lyall, Lisa A Croen, Lauren A Weiss, Martin Kharrazi, Michela Traglia, Gerald N Delorenze, Gayle C Windham
BACKGROUND: Prior studies suggest neurodevelopmental impacts of polybrominated diphenyl ethers (PBDEs), but few have examined diagnosed developmental disorders. OBJECTIVES: Our aim was to determine whether prenatal exposure to brominated flame retardants (BFRs) is associated with autism spectrum disorder (ASD) or intellectual disability without autism (ID). METHODS: We conducted a population-based case-control study including children with ASD (n=545) and ID (n=181) identified from the California Department of Developmental Services and general population (GP) controls (n=418) from state birth certificates...
August 30, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28895015/does-quality-of-life-differ-for-children-with-autism-spectrum-disorder-and-intellectual-disability-compared-to-peers-without-autism
#16
Víctor B Arias, Laura E Gómez, Mª Lucía Morán, Mª Ángeles Alcedo, Asunción Monsalve, Yolanda Fontanil
The main goal was to test if children with intellectual disability (ID) and autism spectrum disorder (ASD) show lower quality of life (QOL) in comparison to those with only ID. The KidsLife Scale was applied to 1060 children with ID, 25% of whom also had ASD, aged 4-21 years old. Those with ASD showed lower scores in several QOL domains but, when the effect of other variables was controlled, lower scores were only kept for interpersonal relationships, social inclusion, and physical wellbeing. Slightly higher scores were found for material wellbeing...
September 11, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28886424/emotional-and-behavioural-needs-in-children-with-specific-language-impairment-and-in-children-with-autism-spectrum-disorder-the-importance-of-pragmatic-language-impairment
#17
Wenche Andersen Helland, Turid Helland
BACKGROUND: Language problems may negatively affect children's behaviour and have detrimental effects on the development of peer-relations. AIMS: We investigated and compared emotional and behavioural profiles in children with SLI and in children with ASD aged 6-15 years and explored to what extent pragmatic language problems contributed to the emotional and behavioural needs (EBN) in these clinical groups. METHODS AND PROCEDURES: The ASD group consisted of 23 children (19 boys; 4 girls) and the SLI group consisted of 20 children (18 boys; 2 girls)...
September 4, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28856494/typical-pubertal-timing-in-an-australian-population-of-girls-and-boys-with-autism-spectrum-disorder
#18
Tamara May, Ken C Pang, Michele A O'Connell, Katrina Williams
Secondary data analyses from the Longitudinal Study of Australian Children Kindergarten cohort were performed to understand any alterations in pubertal timing in Autism Spectrum Disorder (ASD) in a population sample. Timing of parent-reported pubertal events (ages 8-9, 10-11, 12-13 years), and self-report (14-15 years; N = 3454 no ASD, N = 94 with ASD) included breast development, menses, skin changes, growth spurt, body hair, deepening voice and facial hair. Survival analyses and Cox regression controlling for covariates showed no evidence of altered pubertal onset amongst males with ASD...
December 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28839245/hypermasculinised-facial-morphology-in-boys-and-girls-with-autism-spectrum-disorder-and-its-association-with-symptomatology
#19
Diana Weiting Tan, Syed Zulqarnain Gilani, Murray T Maybery, Ajmal Mian, Anna Hunt, Mark Walters, Andrew J O Whitehouse
Elevated prenatal testosterone exposure has been associated with Autism Spectrum Disorder (ASD) and facial masculinity. By employing three-dimensional (3D) photogrammetry, the current study investigated whether prepubescent boys and girls with ASD present increased facial masculinity compared to typically-developing controls. There were two phases to this research. 3D facial images were obtained from a normative sample of 48 boys and 53 girls (3.01-12.44 years old) to determine typical facial masculinity/femininity...
August 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28836480/anxiety-and-depression-in-adolescents-with-adhd-and-autism-spectrum-disorders-correlation-between-parent-and-self-reports-and-with-attention-and-adaptive-functioning
#20
Maria Davidsson, Nicklas Hult, Carina Gillberg, Charlotte Särneö, Christopher Gillberg, Eva Billstedt
BACKGROUND: Adolescents with attention-deficit/hyperactive disorder (ADHD) or autism spectrum disorder (ASD) are at high risk of anxiety and depression. This is important to identify in the clinical assessment to understand its impact. AIMS: The aim of this study is to investigate the correlation between parent- and self-reports of anxiety and depression in adolescents with ADHD or ASD, as well as the correlation with adaptive functioning and performance on an attention test...
August 24, 2017: Nordic Journal of Psychiatry
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