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Autism female

Stephanie M Morris, Maria T Acosta, Shruti Garg, Jonathan Green, Susan Huson, Eric Legius, Kathryn N North, Jonathan M Payne, Ellen Plasschaert, Thomas W Frazier, Lauren A Weiss, Yi Zhang, David H Gutmann, John N Constantino
Importance: Recent reports have demonstrated a higher incidence of autism spectrum disorder (ASD) and substantially elevated autistic trait burden in individuals with neurofibromatosis type 1 (NF1). However, important discrepancies regarding the distribution of autistic traits, sex predominance, and association between ASD symptoms and attentional problems have emerged, and critical features of the ASD phenotype within NF1 have never been adequately explored. Establishing NF1 as a monogenic cause for ASD has important implications for affected patients and for future research focused on establishing convergent pathogenic mechanisms relevant to the potential treatment targets for ASD...
October 19, 2016: JAMA Psychiatry
T Rene Jamison, Jessica Oeth Schuttler
A majority of social skills research in autism spectrum disorder (ASD) and interventions target school age males and no published studies target adolescent females with ASD or related disabilities. Females with ASD are at risk for internalizing symptoms, and experience greater challenges in socialization and communication as social demands become increasingly complex in adolescence. This paper provides a thorough description of a social skills and self-care program designed to address the specific needs of adolescent females with ASD...
October 18, 2016: Journal of Autism and Developmental Disorders
Roald A Øien, Logan Hart, Synnve Schjølberg, Carla A Wall, Elizabeth S Kim, Anders Nordahl-Hansen, Martin R Eisemann, Katarzyna Chawarska, Fred R Volkmar, Frederick Shic
Sex differences in typical development can provide context for understanding ASD. Baron-Cohen (Trends Cogn Sci 6(6):248-254, 2002) suggested ASD could be considered an extreme expression of normal male, compared to female, phenotypic profiles. In this paper, sex-specific M-CHAT scores from N = 53,728 18-month-old toddlers, including n = 185 (32 females) with ASD, were examined. Results suggest a nuanced view of the "extreme male brain theory of autism". At an item level, almost every male versus female disadvantage in the broader population was consistent with M-CHAT vulnerabilities in ASD...
October 18, 2016: Journal of Autism and Developmental Disorders
Shiny Thomas, Mary E Hovinga, Dheeraj Rai, Brian K Lee
Epilepsy is reported to co-occur in individuals with autism spectrum disorder (ASD). Previous studies across the world have found prevalence estimates ranging from 4 to 38 %. We examined parent-reported prevalence of co-occurring epilepsy and ASD in the most recent U.S. National Survey of Children's Health, 2011-2012. All analyses accounted for survey weights to account for the complex sampling design. In the overall analytic sample of 85,248 children ages 2-17, there were 1604 children with ASD (prevalence of 1...
October 17, 2016: Journal of Autism and Developmental Disorders
Jiani Yin, Christian P Schaaf
Autism spectrum disorder (ASD) a highly heritable, clinically diverse group of neurodevelopmental disorders. Its genetic heterogeneity is remarkable, with more than 800 ASD predisposition genes identified to date. They are involved in various biological processes, including chromatin remodeling and gene transcription regulation, cell growth and proliferation, ubiquitination, and neuronal-specific processes, such as synaptic organization and activity, dendritic morphology and axonogenesis. This review aims to discuss basic autism genetics, ways to investigate ASD in model systems, highlight some key genes and their molecular pathways, and introduce novel theories of ASD pathogenesis, such as imbalance of excitatory and inhibitory brain activity, oligogenic heterozygosity, and the female protective model...
October 15, 2016: Prenatal Diagnosis
Christopher C Angelakos, Adam J Watson, W Timothy O'Brien, Kyle S Krainock, Thomas Nickl-Jockschat, Ted Abel
Sleep disturbances and hyperactivity are prevalent in several neurodevelopmental disorders, including autism spectrum disorders (ASDs) and attention deficit-hyperactivity disorder (ADHD). Evidence from genome-wide association studies indicates that chromosomal copy number variations (CNVs) are associated with increased prevalence of these neurodevelopmental disorders. In particular, CNVs in chromosomal region 16p11.2 profoundly increase the risk for ASD and ADHD, disorders that are more common in males than females...
October 14, 2016: Autism Research: Official Journal of the International Society for Autism Research
Eyal Aronoff, Robert Hillyer, Michael Leon
We have previously shown in two randomized clinical trials that environmental enrichment is capable of ameliorating symptoms of autism spectrum disorder (ASD), and in the present study, we determined whether this therapy could be effective under real-world circumstances. 1,002 children were given daily Sensory Enrichment Therapy, by their parents, using personalized therapy instructions given over the Internet. Parents were asked to assess the symptoms of their child every 2 weeks for up to 7 months. An intention-to-treat analysis showed significant overall gains for a wide range of symptoms in these children, including learning, memory, anxiety, attention span, motor skills, eating, sleeping, sensory processing, self-awareness, communication, social skills, and mood/autism behaviors...
2016: Neural Plasticity
Ditza A Zachor, Esther Ben-Itzchak
Autism spectrum disorder (ASD) is a heterogeneous group of disorders which occurs with numerous medical conditions. In previous research, subtyping in ASD has been based mostly on cognitive ability and ASD symptom severity. The aim of the current study was to investigate whether specific medical conditions in ASD are associated with unique behavioral profiles. The medical conditions included in the study were macrocephaly, microcephaly, developmental regression, food selectivity, and sleep problems. The behavioral profile was composed of cognitive ability, adaptive skills, and autism severity, and was examined in each of the aforementioned medical conditions...
2016: Frontiers in Neuroscience
L Brimberg, S Mader, V Jeganathan, R Berlin, T R Coleman, P K Gregersen, P T Huerta, B T Volpe, B Diamond
Autism spectrum disorder (ASD) occurs in 1 in 68 births, preferentially affecting males. It encompasses a group of neurodevelopmental abnormalities characterized by impaired social interaction and communication, stereotypic behaviors and motor dysfunction. Although recent advances implicate maternal brain-reactive antibodies in a causative role in ASD, a definitive assessment of their pathogenic potential requires cloning of such antibodies. Here, we describe the isolation and characterization of monoclonal brain-reactive antibodies from blood of women with brain-reactive serology and a child with ASD...
October 4, 2016: Molecular Psychiatry
Gerard J Garvan, Cynthia W Garvan, Linda S Behar-Horenstein
The importance of educating dental students in cultural competence has been widely emphasized, but there is a need to assess cultural competence in a consistent and reliable way. The aims of this study were to determine latent constructs for the initial measure of cultural competence for oral health providers, the Knowledge, Efficacy, and Practices Instrument (KEPI), and to determine how well these factors related to previously identified latent constructs. Data were collected in surveys of dental students and from dental hygiene, dental assisting, and dental faculty members in 44 academic dental institutions from 2012 to 2015...
October 2016: Journal of Dental Education
Harun Toy, Arzu Hergüner, Sevcan Şimşek, Sabri Hergüner
OBJECTIVES: Recent studies have shown that women with autism spectrum disorder have higher rates of menstrual problems, including irregular menstrual cycles, unusually painful periods (dysmenorrhea), and excessive menstrual bleeding. In this study, we investigated the autistic traits in female university students with primary dysmenorrhea (PD). METHODS: Seventy females with PD and 70 females without PD were enrolled in the study. The Autism Spectrum Quotient (AQ) was used to measure autistic traits and the Brief Symptom Inventory was used for evaluating anxiety and depression levels...
2016: Neuropsychiatric Disease and Treatment
Attia Anwar, Marina Marini, Provvidenza Maria Abruzzo, Alessandra Bolotta, Alessandro Ghezzo, Paola Visconti, Paul J Thornalley, Naila Rabbani
AIMS/HYPOTHESIS: To assess thiamine and related metabolite status by analysis of plasma and urine in autistic children and healthy controls, correlations to clinical characteristics and link to plasma protein markers of oxidative damage. METHODS: 27 children with autism (21 males and 6 females) and 21 (15 males and 6 females) age-matched healthy control children were recruited. The concentration of thiamine and related phosphorylated metabolites in plasma and urine and plasma protein content of dityrosine, N-formylkynurenine and 3-nitrotyrosine was determined...
September 25, 2016: Free Radical Research
Abby M Moskowitz, Newell Belnap, Ashley L Siniard, Szabolcs Szelinger, Ana M Claasen, Ryan F Richholt, Matt De Both, Jason J Corneveaux, Chris Balak, Ignazio S Piras, Megan Russell, Amanda L Courtright, Sampath Rangasamy, Keri Ramsey, David W Craig, Vinodh Narayanan, Matt J Huentelman, Isabelle Schrauwen
Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome...
September 2016: Cold Spring Harbor Molecular Case Studies
Jared J Schwartzer, Milo Careaga, Morgan A Coburn, Destanie R Rose, Heather K Hughes, Paul Ashwood
Recent population-based studies of expecting mothers identified a unique profile of immune markers that are associated with an increased risk of having a child diagnosed with autism spectrum disorder (ASD). This immune profile, including increased levels of maternal and placental interleukin (IL)-4 and IL-5, is consistent with an immune response found in an allergic-asthma phenotype. Allergies and asthma reflect an imbalance in immune responses including polarization towards T-helper type 2 (TH2) responses, with both genetic susceptibility and environmental factors affecting this T-cell polarization...
September 10, 2016: Brain, Behavior, and Immunity
Leo M J de Sonneville, Elske Hidding, Herman van Engeland, Jacob A S Vorstman, Monique E J Sijmens-Morcus, Hanna Swaab
Children with 22q11.2 deletion syndrome (22q11DS; velo-cardio-facial-syndrome) are at risk for the developmental disorders, attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). In this study, the relation between executive functioning (EF) and the severity of ADHD and ASD symptoms is examined, since EF is known to be important in relation to emotional and behavioral problems. The participants consist of 58 children (38 females) with a mean age of 13.5 years (SD 2.6). Standardized assessment was used to evaluate the severity of ASD and ADHD symptomatology...
September 9, 2016: Child Neuropsychology: a Journal on Normal and Abnormal Development in Childhood and Adolescence
Sarah E Veazey, Amber L Valentino, Adeline I Low, Alyssa R McElroy, Linda A LeBlanc
Little applied research focuses on teaching feminine hygiene skills to females with disabilities, yet this is a common clinical concern. The current study demonstrates the use of chaining to teach two young females with autism spectrum disorder feminine hygiene skills. A nonconcurrent multiple baseline across participants was utilized, and the results indicate that both participants acquired the skill. Generalization probes with one participant indicated the skill generalized to novel stimuli.
June 2016: Behavior Analysis in Practice
Audrey A Pauwels, William H Ahearn, Stacy J Cohen
Foss (Journal of Experimental Psychology, 76, 450-459, 1968a; Journal of Experimental Psychology, 77, 341-344, 1968b) compared overlap and non-overlap instruction to promote recombinative response generalization using a matrix training procedure. In the present study, we used a similar set of procedures to teach tacting of kitchen items and prepositions (i.e., relational autoclitics) to three females ages 13-20, diagnosed with autism spectrum disorder. We taught some kitchen items/prepositions as tacts (e.g...
October 2015: Analysis of Verbal Behavior
Sunday M Francis, Matthew G Kirkpatrick, Harriet de Wit, Suma Jacob
BACKGROUND: The neuropeptide oxytocin (OT) has received increased experimental attention for its putative role in both normal social functioning and several psychiatric disorders that are partially characterized by social dysfunction (e.g., autism spectrum disorders: ASD). Many human experimental studies measure circulating plasma levels of OT in order to examine the relationship between the hormone and behavior. Urinary OT (uOT) assays offer a simple, easy, and non-invasive method to measure peripheral hormone levels, but the correspondence between uOT and plasma OT (pOT) levels is unclear...
August 16, 2016: Psychoneuroendocrinology
Daniel M Kerr, Aoife Gilmartin, Michelle Roche
Autism spectrum disorders are a group of neurodevelopmental disorders characterised by impaired social interaction, deficits in communication and repetitive stereotyped behaviours. The endocannabinoid system plays an important role in modulating emotionality and social responding, however there have been a paucity of studies investigating this system in autistic animal models. This study investigated the effect of inhibiting fatty acid amide hydrolyase (FAAH), the anandamide catabolic enzyme, on behavioural responding in the valproic acid (VPA) rat model of autism...
August 31, 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
Jenna L N Sprowles, Jillian R Hufgard, Arnold Gutierrez, Rebecca A Bailey, Sarah A Jablonski, Michael T Williams, Charles V Vorhees
Selective serotonin reuptake inhibitors (SSRIs) block the serotonin (5-HT) reuptake transporter (SERT) and increase synaptic 5-HT. 5-HT is also important in brain development; hence when SSRIs are taken during pregnancy there exists the potential for these drugs to affect CNS ontogeny. Prenatal SSRI exposure has been associated with an increased prevalence of autism spectrum disorder (ASD), and peripheral 5-HT is elevated in some ASD patients. Perinatal SSRI exposure in rodents has been associated with increased depression and anxiety-like behavior, decreased sociability, and impaired learning in the offspring, behaviors often seen in ASD...
November 2016: International Journal of Developmental Neuroscience
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