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https://www.readbyqxmd.com/read/28516424/differing-developmental-trajectories-in-heart-rate-responses-to-speech-stimuli-in-infants-at-high-and-low-risk-for-autism-spectrum-disorder
#1
Katherine L Perdue, Laura A Edwards, Helen Tager-Flusberg, Charles A Nelson
We investigated heart rate (HR) in infants at 3, 6, 9, and 12 months of age, at high (HRA) and low (LRC) familial risk for ASD, to identify potential endophenotypes of ASD risk related to attentional responses. HR was extracted from functional near-infrared spectroscopy recordings while infants listened to speech stimuli. Longitudinal analysis revealed that HRA infants and males generally had lower baseline HR than LRC infants and females. HRA infants showed decreased HR responses to early trials over development, while LRC infants showed increased responses...
May 17, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28498556/adaptive-and-maladaptive-functioning-in-kleefstra-syndrome-compared-to-other-rare-genetic-disorders-with-intellectual-disabilities
#2
Karlijn Vermeulen, Anneke de Boer, Joost G E Janzing, David A Koolen, Charlotte W Ockeloen, Marjolein H Willemsen, Floor M Verhoef, Patricia A M van Deurzen, Linde van Dongen, Hans van Bokhoven, Jos I M Egger, Wouter G Staal, Tjitske Kleefstra
Detailed neurobehavioural profiles are of major value for specific clinical management, but have remained underexposed in the population with intellectual disabilities (ID). This was traditionally classified based on IQ level only. Rapid advances in genetics enable etiology based stratification in the majority of patients, which reduces clinical heterogeneity. This paper illustrates that specific profiles can be obtained for rare syndromes with ID. Our main aim was to study (mal)adaptive functioning in Kleefstra Syndrome (KS) by comparing and contrasting our findings to three other subgroups: Koolen-de Vries Syndrome, GATAD2B-related syndrome, and a mixed control group of individuals with ID...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28485850/child-and-parent-reported-quality-of-life-trajectories-in-children-with-epilepsy-a-prospective-cohort-study
#3
Mark A Ferro, Lisa Avery, Nora Fayed, David L Streiner, Charles E Cunningham, Michael H Boyle, Lucyna Lach, Gina Glidden, Peter L Rosenbaum, Gabriel M Ronen
OBJECTIVE: To describe the developmental trajectories of quality of life (QoL) in a large cohort of children with epilepsy, and to assess the relative contribution of clinical, psychosocial, and sociodemographic variables on QoL trajectories. METHODS: Five assessments during a 28-month prospective cohort study were used to model trajectories of QoL. Participants were recruited with their parents from six Canadian tertiary centers. A convenience sample of 506 children aged 8-14 years with epilepsy and without intellectual disability or autism spectrum disorder were enrolled...
May 9, 2017: Epilepsia
https://www.readbyqxmd.com/read/28471964/prenatal-perinatal-and-postnatal-factors-associated-with-autism-a-meta-analysis
#4
Chengzhong Wang, Hua Geng, Weidong Liu, Guiqin Zhang
BACKGROUND: The aim of this meta-analysis was to investigate the prenatal, perinatal, and postnatal risk factors for children autism. METHODS: PubMed, Embase, Web of Science were used to search for studies that examined the prenatal, perinatal, and postnatal risk factors for children autism. A fixed-effects model or random-effects model was used to pool the overall effect estimates. RESULTS: Data from 37,634 autistic children and 12,081,416 nonautistic children enrolled in 17 studies were collated...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28465421/hyperactive-locomotion-in-a-drosophila-model-is-a-functional-readout-for-the-synaptic-abnormalities-underlying-fragile-x-syndrome
#5
Risa Kashima, Patrick L Redmond, Prajakta Ghatpande, Sougata Roy, Thomas B Kornberg, Thomas Hanke, Stefan Knapp, Giorgio Lagna, Akiko Hata
Fragile X syndrome (FXS) is the most common cause of heritable intellectual disability and autism and affects ~1 in 4000 males and 1 in 8000 females. The discovery of effective treatments for FXS has been hampered by the lack of effective animal models and phenotypic readouts for drug screening. FXS ensues from the epigenetic silencing or loss-of-function mutation of the fragile X mental retardation 1 (FMR1) gene, which encodes an RNA binding protein that associates with and represses the translation of target mRNAs...
May 2, 2017: Science Signaling
https://www.readbyqxmd.com/read/28464876/prenatal-chlorpyrifos-leads-to-autism-like-deficits-in-c57bl6-j-mice
#6
Anat Lan, Michal Kalimian, Benjamin Amram, Ora Kofman
BACKGROUND: Children are at daily risk for exposure to organophosphate insecticides, of which the most common is chlorpyrifos (CPF). Exposure of pregnant women to CPF was linked to decreased birth weight, abnormal reflexes, reduction in IQ, as well as increased maternal reports of signs of pervasive developmental disorder. The aim of current study was to examine the long term effects of prenatal exposure to CPF in C57BL/6 J (B6) mice with specific focus on social and repetitive behavior...
May 2, 2017: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/28463240/incorrect-dosage-of-iqsec2-a-known-intellectual-disability-and-epilepsy-gene-disrupts-dendritic-spine-morphogenesis
#7
S J Hinze, M R Jackson, S Lie, L Jolly, M Field, S C Barry, R J Harvey, C Shoubridge
There is considerable genetic and phenotypic heterogeneity associated with intellectual disability (ID), specific learning disabilities, attention-deficit hyperactivity disorder, autism and epilepsy. The intelligence quotient (IQ) motif and SEC7 domain containing protein 2 gene (IQSEC2) is located on the X-chromosome and harbors mutations that contribute to non-syndromic ID with and without early-onset seizure phenotypes in both sexes. Although IQ and Sec7 domain mutations lead to partial loss of IQSEC2 enzymatic activity, the in vivo pathogenesis resulting from these mutations is not known...
May 2, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28439605/effectiveness-of-a-preparatory-aid-in-facilitating-oral-assessment-in-a-group-of-saudi-children-with-autism-spectrum-disorders-in-central-saudi-arabia
#8
Ebtissam Z Murshid
To evaluate the effectiveness of a specially-designed dental book (preparatory aid) on the behavior of a group of Autism Spectrum Disorder (ASD) Saudi children during their first dental visit to the College of Dentistry, King Saud University, Riyadh, Saudi Arabia. Methods: A cross-sectional double-blinded pre-and post clinical study consisting of 2 parts; a survey targeting the parents, and a clinical oral examination of their ASD children was conducted between January and June of 2016.  Results: A total of 40 children (75% males and 25% females) with an average age of 6...
May 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28429618/the-clinician-perspective-on-sex-differences-in-autism-spectrum-disorders
#9
Rene Jamison, Somer L Bishop, Marisela Huerta, Alycia K Halladay
Research studies using existing samples of individuals with autism spectrum disorders have identified differences in symptoms between males and females. Differences are typically reported in school age and adolescence, with similarities in symptom presentation at earlier ages. However, existing studies on sex differences are significantly limited, making it challenging to discern if, how, and at what point in development females with autism spectrum disorder actually exhibit a different behavioral presentation than males...
April 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28418479/associations-of-maternal-antidepressant-use-during-the-first-trimester-of-pregnancy-with-preterm-birth-small-for-gestational-age-autism-spectrum-disorder-and-attention-deficit-hyperactivity-disorder-in-offspring
#10
Ayesha C Sujan, Martin E Rickert, A Sara Öberg, Patrick D Quinn, Sonia Hernández-Díaz, Catarina Almqvist, Paul Lichtenstein, Henrik Larsson, Brian M D'Onofrio
Importance: Prenatal antidepressant exposure has been associated with adverse outcomes. Previous studies, however, may not have adequately accounted for confounding. Objective: To evaluate alternative hypotheses for associations between first-trimester antidepressant exposure and birth and neurodevelopmental problems. Design, Setting, and Participants: This retrospective cohort study included Swedish offspring born between 1996 and 2012 and followed up through 2013 or censored by death or emigration...
April 18, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28417276/assessing-asd-in-adolescent-females-with-anorexia-nervosa-using-clinical-and-developmental-measures-a-preliminary-investigation
#11
Heather Westwood, William Mandy, Mima Simic, Kate Tchanturia
The aim of this study was to use standardised, clinical assessment tools to explore the presence of Autism Spectrum Disorder (ASD) symptoms in a sample of adolescent females with Anorexia Nervosa (AN), receiving either day-patient or inpatient treatment for their eating disorder and to determine whether any such symptoms were present during the early developmental period, a requirement for a diagnosis of ASD. Using a cross-sectional design, 40 females aged between 12 and 18 were recruited from inpatient and day-patient eating disorder services...
April 17, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/28411125/hypersociability-in-the-angelman-syndrome-mouse-model
#12
David C Stoppel, Matthew P Anderson
Deletions and reciprocal triplications of the human chromosomal 15q11-13 region cause two distinct neurodevelopmental disorders. Maternally-derived deletions or inactivating mutations of UBE3A, a 15q11-13 gene expressed exclusively from the maternal allele in neurons, cause Angelman syndrome, characterized by intellectual disability, motor deficits, seizures, and a characteristic increased social smiling, laughing, and eye contact. Conversely, maternally-derived triplications of 15q11-13 cause a behavioral disorder on the autism spectrum with clinical features that include decreased sociability that we recently reconstituted in mice with Ube3a alone...
April 11, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28402749/mental-health-concerns-and-insurance-denials-among-transgender-adolescents
#13
Leena Nahata, Gwendolyn P Quinn, Nicole M Caltabellotta, Amy C Tishelman
PURPOSE: Transgender youth are at high risk for mental health morbidities. Based on treatment guidelines, puberty blockers and gender-affirming hormone therapy should be considered to alleviate distress due to discordance between an individual's assigned sex and gender identity. The goals of this study were to examine the: (1) prevalence of mental health diagnoses, self-injurious behaviors, and school victimization and (2) rates of insurance coverage for hormone therapy, among a cohort of transgender adolescents at a large pediatric gender program, to understand access to recommended therapy...
April 12, 2017: LGBT Health
https://www.readbyqxmd.com/read/28401654/is-there-sexual-dimorphism-of-hyperserotonemia-in-autism-spectrum-disorder
#14
Lauren C Shuffrey, Stephen J Guter, Shannon Delaney, Suma Jacob, George M Anderson, James S Sutcliffe, Edwin H Cook, Jeremy Veenstra-VanderWeele
Approximately 30% of individuals with autism spectrum disorder (ASD) have elevated whole blood serotonin (5-HT) levels. Genetic linkage and association studies of ASD and of whole blood 5-HT levels as a quantitative trait have revealed sexual dimorphism. Few studies have examined the presence of a sex difference on hyperserotonemia within ASD. To assess whether the rate of hyperserotonemia is different in males than in females with ASD, we measured whole blood 5-HT levels in 292 children and adolescents with ASD, the largest sample in which this biomarker has been assessed...
April 12, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28398337/sex-differences-in-frontal-lobe-connectivity-in-adults-with-autism-spectrum-conditions
#15
E A Zeestraten, M C Gudbrandsen, E Daly, M T de Schotten, M Catani, F Dell'Acqua, M-C Lai, A N V Ruigrok, M V Lombardo, B Chakrabarti, S Baron-Cohen, C Ecker, D G M Murphy, M C Craig
Autism spectrum conditions (ASC) are more prevalent in males than females. The biological basis of this difference remains unclear. It has been postulated that one of the primary causes of ASC is a partial disconnection of the frontal lobe from higher-order association areas during development (that is, a frontal 'disconnection syndrome'). Therefore, in the current study we investigated whether frontal connectivity differs between males and females with ASC. We recruited 98 adults with a confirmed high-functioning ASC diagnosis (61 males: aged 18-41 years; 37 females: aged 18-37 years) and 115 neurotypical controls (61 males: aged 18-45 years; 54 females: aged 18-52 years)...
April 11, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28397802/the-connectomes-of-males-and-females-with-autism-spectrum-disorder-have-significantly-different-white-matter-connectivity-densities
#16
Andrei Irimia, Carinna M Torgerson, Zachary J Jacokes, John D Van Horn
Autism spectrum disorder (ASD) encompasses a set of neurodevelopmental conditions whose striking sex-related disparity (with an estimated male-to-female ratio of 4:1) remains unknown. Here we use magnetic resonance imaging (MRI) and diffusion weighted imaging (DWI) to identify the brain structure correlates of the sex-by-ASD diagnosis interaction in a carefully selected cohort of 110 ASD patients (55 females) and 83 typically-developing (TD) subjects (40 females). The interaction was found to be predicated primarily upon white matter connectivity density innervating, bilaterally, the lateral aspect of the temporal lobe, the temporo-parieto-occipital junction and the medial parietal lobe...
April 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28389756/reducing-listening-related-stress-in-school-aged-children-with-autism-spectrum-disorder
#17
Gary Rance, Donella Chisari, Kerryn Saunders, Jean-Loup Rault
High levels of stress and anxiety are common in children with Autism Spectrum Disorder (ASD). Within this study of school-aged children (20 male, 6 female) we hypothesised that functional hearing deficits (also pervasive in ASD) could be ameliorated by auditory interventions and that, as a consequence, stress levels would be reduced. The use of Ear-Level Remote Microphone devices and Classroom Amplification systems resulted in significantly improved listening, communication and social interaction and a reduction in physiologic stress levels (salivary cortisol) in both one-on-one and group listening situations...
April 7, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28385052/perinatal-ssri-exposure-permanently-alters-cerebral-serotonin-receptor-mrna-in-mice-but-does-not-impact-adult-behaviors
#18
Lauritz R Meyer, Benjamin Dexter, Cecilia Lo, Elizabeth Kenkel, Takahito Hirai, Robert D Roghair, Sarah E Haskell
PURPOSE: Associations have been made between maternal selective serotonin reuptake inhibitor (SSRI) use during pregnancy and altered behavior in offspring, including an increased risk of autism. Given the important role serotonin plays in behavior, we hypothesized SSRI exposure in the perinatal period would alter central serotonin receptor expression and program adult behaviors in mice. METHODS: Female mice were injected with sertraline or saline throughout pregnancy...
April 24, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28376324/social-attention-and-autism-symptoms-in-high-functioning-women-with-autism-spectrum-disorders
#19
Mieke P Ketelaars, Anne In't Velt, Audrey Mol, Hanna Swaab, Fenne Bodrij, Sophie van Rijn
BACKGROUND: Research has suggested a different, less visible, clinical manifestation of Autism Spectrum Disorders (ASD) in females. There is, however, limited research into possible underlying mechanisms explaining the female phenotype. AIMS: This study investigates social attention in females with ASD. METHODS AND PROCEDURES: 26 women diagnosed with ASD and 26 typical female controls were shown three video clips containing intense emotions...
April 1, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28374929/age-related-differences-in-prevalence-of-autism-spectrum-disorder-symptoms-in-children-and-adolescents-with-costello-syndrome
#20
David D Schwartz, Jennifer M Katzenstein, Eric J Highley, Deborah L Stabley, Katia Sol-Church, Karen W Gripp, Marni E Axelrad
Dysregulation of the mitogen activated protein kinase (MAPK) pathway in Costello syndrome (CS) may contribute to increased risk for autism-spectrum disorder (ASD). We examined prevalence of ASD symptoms in 14 individuals (six females) age 1-18 years with molecularly confirmed CS. Caregivers completed the Modified Checklist for Autism in Toddlers (M-CHAT) for ages 0-4 years (n = 7), and the Social Communication Questionnaire (SCQ) for ages 4 and older (n = 7). Age was associated with meeting ASD criteria: 5/7 (71...
May 2017: American Journal of Medical Genetics. Part A
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