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https://www.readbyqxmd.com/read/29217098/prolonged-time-lag-to-final-diagnosis-of-fragile-x-syndrome
#1
Lidia V Gabis, Oded Hochberg, Odelia Leon Attia, Yonit Banet-Levi, Dana Topf, Shahar Shefer
OBJECTIVE: To evaluate the diagnostic process in children ultimately diagnosed with fragile X syndrome (FXS), with an emphasis on the time lag between initial presentation and on diagnosis in female vs male children. STUDY DESIGN: Interviews were conducted with 89 families of children with a final diagnosis of FXS and assessment of time intervals between initial presentation and confirmed molecular diagnosis. RESULTS: Screening of 117 patients (25 female patients) from the 89 families revealed that less than 20% of patients obtained a diagnosis within the first year of seeking medical attention...
December 5, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29214007/cytokine-levels-and-associations-with-symptom-severity-in-male-and-female-children-with-autism-spectrum-disorder
#2
Anne Masi, Edmond J Breen, Gail A Alvares, Nicholas Glozier, Ian B Hickie, Anna Hunt, Jennie Hui, John Beilby, David Ravine, John Wray, Andrew J O Whitehouse, Adam J Guastella
Background: Autism spectrum disorders (ASDs) are complex, pervasive, and heterogeneous neurodevelopmental conditions with varying trajectories, significant male bias and largely unknown etiology. However, an understanding of the biological mechanisms driving pathophysiology is evolving. Immune system aberrations, as identified through cytokine profiles, are believed to have a role in ASD. Altered cytokine levels may facilitate identification of ASD subtypes as well as provide biological markers of response to effective treatments...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29204929/what-about-the-girls-sex-based-differences-in-autistic-traits-and-adaptive-skills
#3
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
#4
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/29193847/genetic-loss-of-diazepam-binding-inhibitor-in-mice-impairs-social-interest
#5
A L Ujjainwala, C D Courtney, S G Rhoads, J S Rhodes, C A Christian
Neuropsychiatric disorders in which reduced social interest is a common symptom, such as autism, depression, and anxiety, are frequently associated with genetic mutations affecting GABAergic transmission. Benzodiazepine treatment, acting via GABAA receptors, improves social interaction in male mouse models with autism-like features. The protein diazepam binding inhibitor (DBI) can act as an endogenous benzodiazepine, but a role for DBI in social behavior has not been described. Here we investigated the role of DBI in the social interest and recognition behavior of mice...
November 28, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29183825/chronic-intranasal-oxytocin-has-dose-dependent-effects-on-central-oxytocin-and-vasopressin-systems-in-prairie-voles-microtus-ochrogaster
#6
C D Guoynes, T C Simmons, G M Downing, S Jacob, M Solomon, K L Bales
Oxytocin (Oxt) is a neuropeptide with many functions, including modulation of social behavior(s) and anxiety. Due to its notable pro-social effects, it has been proposed as a treatment in the management of neuropsychiatric disorders, such as autism spectrum disorder (ASD), schizophrenia, and social anxiety; however, effects of long-term daily treatment are still being explored. Previously, we have shown that in male prairie voles (Microtus ochrogaster) exposure to Oxt during the peri-adolescent period impaired adult pair bonding in a dose-dependent fashion...
November 25, 2017: Neuroscience
https://www.readbyqxmd.com/read/29182941/magnetoencephalography-reveals-an-increased-non-target-p3a-but-not-target-p3b-that-is-associated-with-high-non-clinical-psychosocial-deficits
#7
Talitha C Ford, Will Woods, David P Crewther
Auditory processing deficits are frequently identified in autism and schizophrenia, and the two disorders have been shown to share psychosocial difficulties. This study used magnetoencephalography to investigate auditory processing differences for those with a high degree of a non-clinical autistic and schizotypal trait phenotype, Social Disorganisation (SD). Participants were 18 low (9 female) and 19 high (9 female) SD scorers (18-40 years) who completed a three-stimulus auditory oddball paradigm of speech sounds (standard: 100ms 'o', deviant: 150ms 'o', novel: 150ms 'e')...
November 21, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/29175955/the-autism-protein-ube3a-e6ap-remodels-neuronal-dendritic-arborization-via-caspase-dependent-microtubule-destabilization
#8
Natasha Khatri, James P Gilbert, Yuda Huo, Roozhin Sharaflari, Michael Nee, Hui Qiao, Heng-Ye Man
UBE3A gene copy number variation and the resulting overexpression of the protein E6AP is directly linked to autism spectrum disorders (ASDs), however the underlying cellular and molecular neurobiology remains less clear. Here we report the role of ASD-related increased dosage of Ube3A/E6AP in dendritic arborization during brain development. We show that increased E6AP expression in primary cultured neurons leads to a reduction in dendritic branch number and length. The E6AP-dependent remodeling of dendritic arborization results from retraction of dendrites by thinning and fragmentation at the tips of dendrite branches, leading to shortening or removal of dendrites...
November 23, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29172231/children-with-optic-nerve-hypoplasia-face-a-high-risk-of-neurodevelopmental-disorders
#9
Sara Dahl, Ronny Wickström, Ulla Ek, Kristina Teär Fahnehjelm
AIM: Optic nerve hypoplasia (ONH) is a congenital ocular malformation that has been associated with neurodevelopmental disorders, but the prevalence in unilateral disease and less severe visual impairment is unknown. We studied intellectual disability and autism spectrum disorders in patients with ONH. METHODS: This was a population-based cross-sectional cohort study of 65 patients (33 female) with ONH below 20 years of age, living in Stockholm in December 2009, with data analysed in January 2016...
November 24, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29171565/effectiveness-of-autism-training-programme-an-example-from-van-turkey
#10
Safak Eray, Duygu Murat
OBJECTIVE: To determine the knowledge and attitudes of family practitioners before and after their participation in a training programme. METHODS: The study was conducted at Van Training and Research Hospital, Van, Turkey, from December 1to 15, 2016, and comprised family practitioners. Before the training, the practitioners were asked to fill out a questionnaire that was prepared by the researchers. Subsequently, the training course was presented by the child and adolescent psychiatrists...
November 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/29170682/adaptive-skill-trajectories-in-infants-with-fragile-x-syndrome-contrasted-to-typical-controls-and-infants-at-high-risk-for-autism
#11
Kelly E Caravella, Jane E Roberts
Background: Adaptive behaviors are essential for optimal outcomes and independence in individuals with developmental disabilities. This study examined longitudinal trajectories of adaptive behavior in infants with fragile X syndrome (FXS), compared to typical development (TD) and infant siblings of children diagnosed with autism (ASIBs). Method: Participants included 76 male infants (FXS =25, ASIBs=27, TD = 24) assessed up to 4 times between 6 and 24 months of age for a total of 215 assessments of adaptive behavior...
August 2017: Research in Autism Spectrum Disorders
https://www.readbyqxmd.com/read/29166775/individualized-levels-system-and-systematic-stimulus-pairing-to-reduce-multiply-controlled-aggression-of-a-child-with-autism-spectrum-disorder
#12
Kayla R Randall, Joseph M Lambert, Mary P Matthews, Nealetta J Houchins-Juarez
Research has shown that physical aggression is common in individuals with autism spectrum disorder (ASD). Interventions for multiply controlled aggression may be complex and difficult to implement with fidelity. As a result, the probability of treatment efficacy for this class of behavior may suffer. We designed an individualized levels system to reduce the physical aggression of an 11-year-old female with ASD. We then employed a systematic stimulus pairing procedure to facilitate generalization. Results suggest individualized levels systems can suppress multiply controlled aggression and that systematic stimulus pairing is an effective way to transfer treatment effects from trained therapists to caregivers...
November 1, 2017: Behavior Modification
https://www.readbyqxmd.com/read/29158765/usefulness-of-the-korean-developmental-screening-test-for-infants-and-children-for-the-evaluation-of-developmental-delay-in-korean-infants-and-children-a-single-center-study
#13
Chung-Hyuk Yim, Gun-Ha Kim, Baik-Lin Eun
Purpose: To evaluate the usefulness of the Korean Developmental Screening Test (K-DST) for infants and children for developmental delay assessment. Methods: This study was based on retrospective studies of the results of the K-DST, Preschool Receptive-Expressive Language Scale (PRES), Sequenced Language Scale for Infants (SELSI), Childhood Autism Rating Scale (CARS), Modified Checklist for Autism in Toddlers (M-CHAT), electroencephalography, magnetic resonance imaging, and extensive tests conducted in 209 of 1,403 patients, of whom 758 underwent the K-DST at the Korea University Guro Hospital between January 2015 and December 2016 and 645 were referred from local clinics between January 2015 and June 2016...
October 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29152164/mutations-in-rab39b-in-individuals-with-intellectual-disability-autism-spectrum-disorder-and-macrocephaly
#14
Marc Woodbury-Smith, Eric Deneault, Ryan K C Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L Howe, Ny Hoang, Mohammed Uddin, Christian R Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W Scherer
Background: Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe a family with ASD in which a predicted pathogenic nonsense mutation in the X-chromosome gene RAB39B segregates with ASD phenotype. Methods: Clinical phenotyping, microarray, and whole genome sequencing (WGS) were performed on the five members of this family...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29145823/dbmdega-a-database-for-meta-analysis-of-differentially-expressed-genes-in-autism-spectrum-disorder
#15
Shuyun Zhang, Libin Deng, Qiyue Jia, Shaoting Huang, Junwang Gu, Fankun Zhou, Meng Gao, Xinyi Sun, Chang Feng, Guangqin Fan
BACKGROUND: Autism spectrum disorders (ASD) are hereditary, heterogeneous and biologically complex neurodevelopmental disorders. Individual studies on gene expression in ASD cannot provide clear consensus conclusions. Therefore, a systematic review to synthesize the current findings from brain tissues and a search tool to share the meta-analysis results are urgently needed. METHODS: Here, we conducted a meta-analysis of brain gene expression profiles in the current reported human ASD expression datasets (with 84 frozen male cortex samples, 17 female cortex samples, 32 cerebellum samples and 4 formalin fixed samples) and knock-out mouse ASD model expression datasets (with 80 collective brain samples)...
November 16, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#16
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29141188/autistic-traits-modulate-the-activity-of-the-ventromedial-prefrontal-cortex-in-response-to-female-faces
#17
Yui Murakami, Shinya Sakai, Kenta Takeda, Daisuke Sawamura, Kazuki Yoshida, Takamichi Hirose, Chisa Ikeda, Hiroki Mani, Toru Yamamoto, Ayahito Ito
Previous findings have revealed abnormal visual attention or processing of faces among individuals with autism spectrum condition (ASC). However, little attention has been paid to the relationship between autistic traits and neural mechanisms associated with representing facial values. Using fMRI, we investigated the patterns of brain activity in the vmPFC and VS in response to faces of elderly males, elderly females, young males, and young females. During fMRI, subjects with a relatively high autism quotient (high group) and those with a relatively low autism quotient (low group) were presented with a face and asked to rate its pleasantness...
November 12, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/29139169/sex-differences-in-the-phagocytic-and-migratory-activity-of-microglia-and-their-impairment-by-palmitic-acid
#18
Natalia Yanguas-Casás, Andrea Crespo-Castrillo, Maria L de Ceballos, Julie A Chowen, Iñigo Azcoitia, Maria Angeles Arevalo, Luis M Garcia-Segura
Sex differences in the incidence, clinical manifestation, disease course, and prognosis of neurological diseases, such as autism spectrum disorders or Alzheimer's disease, have been reported. Obesity has been postulated as a risk factor for cognitive decline and Alzheimer's disease and, during pregnancy, increases the risk of autism spectrum disorders in the offspring. Obesity is associated with increased serum and brain levels of free fatty acids, such as palmitic acid, which activate microglial cells triggering a potent inflammatory cascade...
November 15, 2017: Glia
https://www.readbyqxmd.com/read/29104007/perinatal-exposure-to-concentrated-ambient-particulates-results-in-autism-like-behavioral-deficits-in-adult-mice
#19
Jamie S Church, Pamella B Tijerina, Felicity J Emerson, Morgan A Coburn, Jason L Blum, Judith T Zelikoff, Jared J Schwartzer
Exposure to fine ambient particulates (PM2.5) during gestation or neonatally has potent neurotoxic effects. While biological and behavioral data indicate a vulnerability to environmental pollutants across distinct neurodevelopmental windows, the behavioral consequences following exposure across the entire developmental period remain unknown. Moreover, several epidemiological studies support a link between developmental exposure to air pollution and an increased risk of later receiving a diagnosis of autism spectrum disorders (ASD), a neurodevelopmental disorder that persists throughout life...
November 2, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/29095880/circumscribed-interests-in-adolescents-with-autism-spectrum-disorder-a-look-beyond-trains-planes-and-clocks
#20
Ivy Y K Cho, Kristina Jelinkova, Manuela Schuetze, Sarah A Vinette, Sarah Rahman, Adam McCrimmon, Deborah Dewey, Signe Bray
Adolescence is a unique developmental period, characterized by physical and emotional growth and significant maturation of cognitive and social skills. For individuals with Autism Spectrum Disorder (ASD), it is also a vulnerable period as cognitive and social skills can deteriorate. Circumscribed interests (CIs), idiosyncratic areas of intense interest and focus, are a core symptom of ASD that may be associated with social development. Yet, relatively little is known about the expression of CIs in adolescents with ASD...
2017: PloS One
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