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Autism spectrum disorder females

Dorothea L Floris, Meng-Chuan Lai, Tanmay Nath, Michael P Milham, Adriana Di Martino
Background: The male predominance in the prevalence of autism spectrum disorder (ASD) has motivated research on sex differentiation in ASD. Multiple sources of evidence have suggested a neurophenotypic convergence of ASD-related characteristics and typical sex differences. Two existing, albeit competing, models provide predictions on such neurophenotypic convergence. These two models are testable with neuroimaging. Specifically, the Extreme Male Brain (EMB) model predicts that ASD is associated with enhanced brain maleness in both males and females with ASD (i...
2018: Molecular Autism
Marlene Pereira Galdino, Luiz Fernando Longuim Pegoraro, Laura Olalla Saad, David Grodberg, Eloisa Helena Rubello Valler Celeri
This study investigated the psychometric properties of the Autism Mental Status Examination (AMSE) in a Brazilian sample of children and adolescents with autism spectrum disorder (ASD). A sample of 260 children and adolescents, comprising 56 (21.5%) females and 204 (78.5%) males, was assessed. The participants were submitted to both the childhood autism rating scale (CARS-BR) and the AMSE. The CARS-BR was used to estimate ASD severity and the cutoff point on the AMSE. Spearman's correlation test was employed to determine the correlation between the AMSE and CARS-BR scales...
March 12, 2018: Journal of Autism and Developmental Disorders
Chun-Chun Hu, Xiu Xu, Guo-Liang Xiong, Qiong Xu, Bing-Rui Zhou, Chun-Yang Li, Qi Qin, Chun-Xue Liu, Hui-Ping Li, Yun-Jun Sun, Xiang Yu
Genetic alterations, together with environmental risk factors during infancy and childhood, contribute significantly to the etiology of autism spectrum disorder (ASD), a heterogeneous neurodevelopmental condition characterized by impairments in social interaction and restricted, repetitive behaviors. Mounting evidence points to a critical contribution of immunological risk factors to the development of ASD. By affecting multiple neurodevelopmental processes, immune system dysfunction could act as a point of convergence between genetics and environmental factors in ASD...
March 9, 2018: Autism Research: Official Journal of the International Society for Autism Research
Sarah L Ferri, Ted Abel, Edward S Brodkin
PURPOSE OF REVIEW: Neurodevelopmental disorders disproportionately affect males. The mechanisms underlying male vulnerability or female protection are not known and remain understudied. Determining the processes involved is crucial to understanding the etiology and advancing treatment of neurodevelopmental disorders. Here, we review current findings and theories that contribute to male preponderance of neurodevelopmental disorders, with a focus on autism. RECENT FINDINGS: Recent work on the biological basis of the male preponderance of autism and other neurodevelopmental disorders includes discussion of a higher genetic burden in females and sex-specific gene mutations or epigenetic changes that differentially confer risk to males or protection to females...
March 5, 2018: Current Psychiatry Reports
Melissa Kirkovski, Chao Suo, Peter Gregory Enticott, Murat Yücel, Paul Bernard Fitzgerald
Magnetic resonance spectroscopy (MRS) was utilized to investigate sex differences in gamma-aminobutyric acid (GABA) between adults with autism spectrum disorder (ASD) and neurotypical (NT) controls. GABA at the right superior temporal sulcus (STS) is reported for 12 ASD and 14 NT participants. The results show no group differences in GABA. There was, however, a significant positive association between GABA at the STS and autism-related social impairments in females with ASD. These findings provide preliminary support for sex differences in GABAergic distribution and processes that contribute to social functioning in ASD...
February 21, 2018: Psychiatry Research
Lauren P Lawson, Rucha Joshi, Josephine Barbaro, Cheryl Dissanayake
Relatively few studies have examined gender differences in infants and toddlers, and most focus on clinically referred samples or high-risk infant cohorts. The current study aimed to examine gender differences in early autism manifestations and cognitive development in a community-ascertained sample. In total, 46 males and 21 females with ASD were seen at approximately 24 and 48 months of age. No significant gender differences were observed on overall cognitive ability, verbal skills, non-verbal skills, overall autism severity, or restricted repetitive behaviours...
March 1, 2018: Journal of Autism and Developmental Disorders
John M McCarthy, Bonnie M McCann-Crosby, Megan E Rech, Jiani Yin, Chun-An Chen, May A Ali, HaiThuy N Nguyen, Jennifer L Miller, Christian P Schaaf
BACKGROUND: Nonsense and frameshift mutations in the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13, have been reported to cause Schaaf-Yang syndrome (SYS), a genetic disorder that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties and autism spectrum disorder. Prader-Willi syndrome (PWS) is a genetic disorder characterised by severe infantile hypotonia, hypogonadotrophic hypogonadism, early childhood onset obesity/hyperphagia, developmental delay/intellectual disability and short stature...
March 1, 2018: Journal of Medical Genetics
Jie Yang, Jonathan Lee
Previous studies have found that individuals with autism spectrum disorders show impairments in mentalizing processes and aberrant brain activity compared with typically developing participants. However, the findings are mainly from male participants and the aberrant effects in autism spectrum disorder females and sex differences are still unclear. To address these issues, this study analyzed intrinsic functional connectivity of mentalizing regions using resting-state functional magnetic resonance imaging data of 48 autism spectrum disorder males and females and 48 typically developing participants in autism brain imaging data exchange...
February 2018: Autism: the International Journal of Research and Practice
Berit Hjelde Hansen, Beate Oerbeck, Benedicte Skirbekk, Beáta Éva Petrovski, Hanne Kristensen
BACKGROUND: Accurate prevalence rates of the neurodevelopmental disorders (ND) and comorbid conditions in child and adolescent mental health services (CAMHS) are essential for treatment planning and organization of health care. However, valid and reliable prevalence estimates from Nordic CAMHS populations are scarce, and the published findings vary. AIMS: To report prevalence rates of ND (attention-deficit hyperactivity disorder: ADHD, tic disorder: TD or autism spectrum disorder: ASD) and comorbid disorders by a validated diagnostic instrument in children referred to CAMHS outpatient clinics...
February 28, 2018: Nordic Journal of Psychiatry
Delin Sun, Robin Shao, Zhaoxin Wang, Tatia M C Lee
Gaze direction is a common social cue implying potential interpersonal interaction. However, little is known about the neural processing of social decision making influenced by perceived gaze direction. Here, we employed functional magnetic resonance imaging (fMRI) method to investigate 27 females when they were engaging in an economic exchange game task during which photos of direct or averted eye gaze were shown. We found that, when averted but not direct gaze was presented, prosocial vs. selfish choices were associated with stronger activations in the right superior temporal gyrus (STG) as well as larger functional couplings between right STG and the posterior cingulate cortex (PCC)...
2018: Frontiers in Human Neuroscience
Ilaria Cataldo, Atiqah Azhari, Gianluca Esposito
Oxytocin ( OXT ) and arginine-vasopressin ( AVP ) play a key regulatory part in social and affiliative behaviors; two aspects highly compromised in Autism Spectrum Disorder (ASD). Furthermore, variants in the adjacent oxytocin-vasopressin gene regions have been found to be associated with ASD diagnosis and endophenotypes. This review focuses mainly on common OXTr single nucleotide polymorphisms (SNPs), AVPR1a microsatellites and AVPR1b polymorphisms in relation to the development of autism. Although these genes did not surface in genome-wide association studies, evidence supports the hypothesis that these receptors and their polymorphisms are widely involved in the regulation of social behavior, and in modulating neural and physiological pathways contributing to the etiology of ASD...
2018: Frontiers in Molecular Neuroscience
Isabella R Fernandes, Ana C P Cruz, Adriano Ferrasa, Dylan Phan, Roberto H Herai, Alysson R Muotri
The prevalence of autism spectrum disorders (ASD) and the number of identified ASD-related genes have increased in recent years. The SETD5 gene encodes a SET-containing-domain 5 protein, a likely reader enzyme. Genetic evidences suggest that SETD5 malfunction contributes to ASD phenotype, such as on intellectual disability (ID) and facial dysmorphism. In this review, we mapped the clinical phenotypes of individuals carrying mutations on the SETD5 gene that are associated with ASD and other chromatinopathies (mutation in epigenetic modifiers that leads to the development of neurodevelopmental disorders such as ASD)...
February 26, 2018: Developmental Neurobiology
Attia Anwar, Provvidenza Maria Abruzzo, Sabah Pasha, Kashif Rajpoot, Alessandra Bolotta, Alessandro Ghezzo, Marina Marini, Annio Posar, Paola Visconti, Paul J Thornalley, Naila Rabbani
Background: Clinical chemistry tests for autism spectrum disorder (ASD) are currently unavailable. The aim of this study was to explore the diagnostic utility of proteotoxic biomarkers in plasma and urine, plasma protein glycation, oxidation, and nitration adducts, and related glycated, oxidized, and nitrated amino acids (free adducts), for the clinical diagnosis of ASD. Methods: Thirty-eight children with ASD (29 male, 9 female; age 7.6 ± 2.0 years) and 31 age-matched healthy controls (23 males, 8 females; 8...
2018: Molecular Autism
Susanne Thümmler, Emmanuelle Dor, Renaud David, Graziella Leali, Michele Battista, Alexia David, Florence Askenazy, Céline Verstuyft
Background: Severe mental health disorders in children and adolescents represent a major public health problem. Despite adequate drug treatment, some patients develop pharmacoresistant disease. As a consequence, physicians are confronted with prescribing challenges, prolonged hospitalization and increased risk of adverse events, thus aggravating short-, medium-, and long-term prognosis. The majority of psychotropic treatments, particularly antipsychotics and antidepressants, are metabolized at hepatic level by cytochrome P450 (CYP), particularly by CYP3A4 and CYP2D6...
2018: Frontiers in Psychiatry
J Tillmann, K Ashwood, M Absoud, S Bölte, F Bonnet-Brilhault, J K Buitelaar, S Calderoni, R Calvo, R Canal-Bedia, R Canitano, A De Bildt, M Gomot, P J Hoekstra, A Kaale, H McConachie, D G Murphy, A Narzisi, I Oosterling, M Pejovic-Milovancevic, A M Persico, O Puig, H Roeyers, N Rommelse, R Sacco, V Scandurra, A C Stanfield, E Zander, T Charman
Research on sex-related differences in Autism Spectrum Disorder (ASD) has been impeded by small samples. We pooled 28 datasets from 18 sites across nine European countries to examine sex differences in the ASD phenotype on the ADI-R (376 females, 1763 males) and ADOS (233 females, 1187 males). On the ADI-R, early childhood restricted and repetitive behaviours were lower in females than males, alongside comparable levels of social interaction and communication difficulties in females and males. Current ADI-R and ADOS scores showed no sex differences for ASD severity...
February 21, 2018: Journal of Autism and Developmental Disorders
Laura A Schieve, Lin Tian, Nicole Dowling, Lisa Croen, Julie Hoover-Fong, Aimee Alexander, Stuart K Shapira
The ratio of the index (2nd) finger to ring (4th) finger lengths (2D:4D) is a proxy for fetal testosterone and estradiol. Studies suggesting 2D:4D is inversely associated with autism spectrum disorder (ASD) in males were limited by lack of confounder and subgroup assessments. Studies of females are sparse. We examined associations between ASD and 2D:4D among children in the Study to Explore Early Development; we considered case subgroups and numerous potential demographic and maternal-perinatal health confounders...
February 15, 2018: Journal of Autism and Developmental Disorders
Huey-Ling Chiang, Wei-Chih Kao, Mei-Chun Chou, Wen-June Chou, Yen-Nan Chiu, Yu-Yu Wu, Susan Shur-Fen Gau
School dysfunction is observed in youths with autism spectrum disorder (ASD), but the factors moderating their school dysfunction have not been well explored. This study investigated school functions in youths with ASD in Taiwan, stratified by personal characteristics including demographics, ASD subtypes, intelligence profiles, and the presence of attention-deficit hyperactivity disorder (ADHD). We recruited 160 youths (aged 6-18 years, 87.5% boys) with a clinical diagnosis of ASD and 160 age and gender-matched typically developing (TD) youths...
February 10, 2018: Autism Research: Official Journal of the International Society for Autism Research
Gunter Heylens, Lore Aspeslagh, Jesper Dierickx, Kariann Baetens, Birgit Van Hoorde, Griet De Cuypere, Els Elaut
Quantitative studies indicate an overrepresentation of ASD in individuals with GD. This study aims to determine the prevalence of autistic traits or ASD in adults with GD using two different data collection methods: (1) cross-sectional data using the social responsiveness scale-adults (SRS-A) and the autism quotient (AQ) (n = 63). (2) Clinical chart data (n = 532). Mean SRS-A scores were significantly higher compared to a norm population. Almost 5% of the patients with GD scored above the cut-off as measured by the AQ...
February 9, 2018: Journal of Autism and Developmental Disorders
Maria Bove, Kevin Ike, Adriaan Eldering, Bauke Buwalda, Sietse F de Boer, Maria Grazia Morgese, Stefania Schiavone, Vincenzo Cuomo, Luigia Trabace, Martien J H Kas
Disrupted sociability and consequent social withdrawal are (early) symptoms of a wide variety of neuropsychiatric diseases, such as schizophrenia, autism spectrum disorders, depressive disorders and Alzheimer's disease. The paucity of objective measures to translationally assess social withdrawal characteristics has been an important limitation to study this behavioral phenotype, both in human and rodents. The aim of the present study was to investigate sociability and social withdrawal in rodents using an ethologically valid behavioral paradigm, the Visible Burrow System (VBS)...
February 6, 2018: Behavioural Brain Research
Anneke de Boer, Karlijn Vermeulen, Jos I M Egger, Joost G E Janzing, Nicole de Leeuw, Hermine E Veenstra-Knol, Nicolette S den Hollander, Hans van Bokhoven, Wouter Staal, Tjitske Kleefstra
Background: Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic defect that was initially detected in their children. A germline genetic defect affecting the euchromatin histone methyltransferase 1 (EHMT1) gene causes Kleefstra syndrome, which is associated with the typical triad of distinct facial appearance, (childhood) hypotonia, and intellectual disability...
2018: Molecular Autism
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