1. {{The Anger Box – Sensory Turmoil and Pain in Autism Caldwell Phoebe The Anger Box – Sensory Turmoil and Pain in Autism 146pp pound12.95 Pavilion Publishing 978 1 9098 1044 0 1909810444 [Formula: see text]}}. {Nurs Stand};2014 (May 7);28(36):32.
At the GP surgery where I used to work, we saw many child and adult patients living with autism and learning disabilities.
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2. Baron-Cohen S, Murphy L, Chakrabarti B, Craig I, Mallya U, Lakatosova S, Rehnstrom K, Peltonen L, Wheelwright S, Allison C, Fisher SE, Warrier V. {{A genome wide association study of mathematical ability reveals an association at chromosome 3q29, a locus associated with autism and learning difficulties: a preliminary study}}. {PLoS One};2014;9(5):e96374.
Mathematical ability is heritable, but few studies have directly investigated its molecular genetic basis. Here we aimed to identify specific genetic contributions to variation in mathematical ability. We carried out a genome wide association scan using pooled DNA in two groups of U.K. samples, based on end of secondary/high school national academic exam achievement: high (n = 419) versus low (n = 183) mathematical ability while controlling for their verbal ability. Significant differences in allele frequencies between these groups were searched for in 906,600 SNPs using the Affymetrix GeneChip Human Mapping version 6.0 array. After meeting a threshold of p<1.5×10-5, 12 SNPs from the pooled association analysis were individually genotyped in 542 of the participants and analyzed to validate the initial associations (lowest p-value 1.14 x10-6). In this analysis, one of the SNPs (rs789859) showed significant association after Bonferroni correction, and four (rs10873824, rs4144887, rs12130910 rs2809115) were nominally significant (lowest p-value 3.278 x 10-4). Three of the SNPs of interest are located within, or near to, known genes (FAM43A, SFT2D1, C14orf64). The SNP that showed the strongest association, rs789859, is located in a region on chromosome 3q29 that has been previously linked to learning difficulties and autism. rs789859 lies 1.3 kbp downstream of LSG1, and 700 bp upstream of FAM43A, mapping within the potential promoter/regulatory region of the latter. To our knowledge, this is only the second study to investigate the association of genetic variants with mathematical ability, and it highlights a number of interesting markers for future study.
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3. Crowe BH, Salt AT. {{Autism: the management and support of children and young people on the autism spectrum (NICE Clinical Guideline 170)}}. {Arch Dis Child Educ Pract Ed};2014 (May 8)
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4. Denmark T, Atkinson J, Campbell R, Swettenham J. {{How do Typically Developing Deaf Children and Deaf Children with Autism Spectrum Disorder Use the Face When Comprehending Emotional Facial Expressions in British Sign Language?}}. {J Autism Dev Disord};2014 (May 7)
Facial expressions in sign language carry a variety of communicative features. While emotion can modulate a spoken utterance through changes in intonation, duration and intensity, in sign language specific facial expressions presented concurrently with a manual sign perform this function. When deaf adult signers cannot see facial features, their ability to judge emotion in a signed utterance is impaired (Reilly et al. in Sign Lang Stud 75:113-118, 1992). We examined the role of the face in the comprehension of emotion in sign language in a group of typically developing (TD) deaf children and in a group of deaf children with autism spectrum disorder (ASD). We replicated Reilly et al.’s (Sign Lang Stud 75:113-118, 1992) adult results in the TD deaf signing children, confirming the importance of the face in understanding emotion in sign language. The ASD group performed more poorly on the emotion recognition task than the TD children. The deaf children with ASD showed a deficit in emotion recognition during sign language processing analogous to the deficit in vocal emotion recognition that has been observed in hearing children with ASD.
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5. Gidaya NB, Lee BK, Burstyn I, Yudell M, Mortensen EL, Newschaffer CJ. {{In Utero Exposure to Selective Serotonin Reuptake Inhibitors and Risk for Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (May 7)
We investigated whether there is an association between increased risk for autism spectrum disorders (ASD) and selective serotonin reuptake inhibitors (SSRIs) used during pregnancy. This study used Denmark’s health and population registers to obtain information regarding prescription drugs, ASD diagnosis, and health and socioeconomic status. There were 1.5 % of cases and 0.7 % of controls exposed to SSRIs during the pregnancy period, and higher effect estimates observed with longer use. We found evidence that in utero exposure to SSRIs increases a child’s risk associated with ASD. These results, while adding to the limited knowledge on prenatal pharmacological exposures as potential ASD risk factors, need to be balanced against the benefits of indicated medication use by pregnant mothers.
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6. Gotham K, Bishop SL, Brunwasser S, Lord C. {{Rumination and Perceived Impairment Associated With Depressive Symptoms in a Verbal Adolescent-Adult ASD Sample}}. {Autism Res};2014 (May 6)
The aim of this study was to examine the association between depressive symptoms and several psychosocial constructs (insight into autism symptoms, rumination, desire for social interaction, and satisfaction with social support) that may play a role in the development or maintenance of depression in verbally fluent adolescents and adults with ASD. Participants included 50 individuals with ASD and verbal IQ >/= 70, aged 16-35 (sample size varied by measure). Elevated depressive symptoms on the Beck Depression Inventory, 2nd edition (BDI-II), were associated with greater self-perceived, autism-related impairments (n = 48), greater rumination (n = 21), and lower perceived social support (n = 37). Rumination tended to moderate the association between self-perceived autism symptoms and BDI-II scores (n = 21), and was significantly associated with ASD-related insistence on sameness behaviors (n = 18). An unexpected relationship between depressive features and social participation and motivation will need to be clarified by longitudinal research. These and similar findings contribute to our understanding of the phenomenology of depression in ASD, which is critical to the development of practical prevention and treatment. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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7. Jokiranta E, Sourander A, Suominen A, Timonen-Soivio L, Brown AS, Sillanpaa M. {{Epilepsy Among Children and Adolescents with Autism Spectrum Disorders: A Population-Based Study}}. {J Autism Dev Disord};2014 (May 7)
The present population-based study examines associations between epilepsy and autism spectrum disorders (ASD). The cohort includes register data of 4,705 children born between 1987 and 2005 and diagnosed as cases of childhood autism, Asperger’s syndrome or pervasive developmental disorders-not otherwise specified. Each case was matched to four controls by gender, date of birth, place of birth, and residence in Finland. Epilepsy was associated with ASD regardless of the subgroup after adjusting for covariates. The associations were stronger among cases with intellectual disability, especially among females. Epilepsy’s age at onset was similar between the cases and controls regardless of the ASD subgroup. These findings emphasize the importance to examine the neurodevelopmental pathways in ASD, epilepsy and intellectual disability.
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8. Lewis JD, Evans AC, Pruett JR, Botteron K, Zwaigenbaum L, Estes A, Gerig G, Collins L, Kostopoulos P, McKinstry R, Dager S, Paterson S, Schultz RT, Styner M, Hazlett H, Piven J. {{Network inefficiencies in autism spectrum disorder at 24 months}}. {Transl Psychiatry};2014;4:e388.
Autism spectrum disorder (ASD) is a developmental disorder defined by behavioral symptoms that emerge during the first years of life. Associated with these symptoms are differences in the structure of a wide array of brain regions, and in the connectivity between these regions. However, the use of cohorts with large age variability and participants past the generally recognized age of onset of the defining behaviors means that many of the reported abnormalities may be a result of cascade effects of developmentally earlier deviations. This study assessed differences in connectivity in ASD at the age at which the defining behaviors first become clear. There were 113 24-month-old participants at high risk for ASD, 31 of whom were classified as ASD, and 23 typically developing 24-month-old participants at low risk for ASD. Utilizing diffusion data to obtain measures of the length and strength of connections between anatomical regions, we performed an analysis of network efficiency. Our results showed significantly decreased local and global efficiency over temporal, parietal and occipital lobes in high-risk infants classified as ASD, relative to both low- and high-risk infants not classified as ASD. The frontal lobes showed only a reduction in global efficiency in Broca’s area. In addition, these same regions showed an inverse relation between efficiency and symptom severity across the high-risk infants. The results suggest delay or deficits in infants with ASD in the optimization of both local and global aspects of network structure in regions involved in processing auditory and visual stimuli, language and nonlinguistic social stimuli.
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9. Muskat B, Burnham Riosa P, Nicholas DB, Roberts W, Stoddart KP, Zwaigenbaum L. {{Autism comes to the hospital: The experiences of patients with autism spectrum disorder, their parents and health-care providers at two Canadian paediatric hospitals}}. {Autism};2014 (May 8)
Youth with autism spectrum disorder are a vulnerable, often poorly understood patient group, who may experience periodic and chronic health challenges, in addition to their primary developmental social and communication problems. Developmental and behavioural challenges can complicate management of acute health-care needs. To date, there is an absence of empirical research exploring the hospital experiences of children and youth with autism spectrum disorder, their families and their health-care providers. Therefore, the purpose of this study was to understand these experiences in order to inform hospital-based care. A total of 42 participants were interviewed (youth with autism spectrum disorder, their parents and health-care providers) at one of two Canadian paediatric hospitals, representing 20 distinct cases of patients with autism spectrum disorder. Results from the qualitative analyses indicated that patients with autism spectrum disorder faced several challenges in the context of health-care delivery in the hospital setting, as did their families and health-care provider team. Problems identified included communication and sensory challenges, and the degree of flexibility of health-care providers and the hospital organization. Supportive health-care providers were those who acknowledged parents as experts, inquired about the requirements of patients with autism spectrum disorder and implemented strategies that accommodated the unique clinical presentation of the individual patient. These recommendations have wide-reaching utility for hospital and health-care practices involving this patient group.
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10. Olofson EL, Casey D, Oluyedun OA, Van Herwegen J, Becerra A, Rundblad G. {{Youth with Autism Spectrum Disorder Comprehend Lexicalized and Novel Primary Conceptual Metaphors}}. {J Autism Dev Disord};2014 (May 7)
Individuals with autism spectrum disorder (ASD) have difficulty comprehending metaphors. However, no study to date has examined whether or not they understand conceptual metaphors (i.e. mappings between conceptual structures), which could be the building blocks of metaphoric thinking and understanding. We investigated whether 13 participants with ASD (age 7;03-22;03) and 13 age-matched typically developing (TD) controls could comprehend lexicalized conceptual metaphors (e.g., Susan is a warm person) and novel ones (e.g., Susan is a toasty person). Individuals with ASD performed at greater than chance levels on both metaphor types, although their performance was lower than TD participants. We discuss the theoretical relevance of these findings and educational implications.
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11. Pop-Jordanova N, Plasevska-Karanfilska D. {{Autism – genetics, electrophysiology and clinical syndromes}}. {Prilozi};2014;35(1):133-146.
(Full text is available at http://www.manu.edu.mk/prilozi). Autism is a severe and the most heritable developmental disorder, whose pathogenesis is still largely unknown. The rising incidence of autism in the last decade has increased the scientific interest and research. More than a thousand papers concerned with information about the etiology of this « static disorder of the immature brain » can be found on Pub Med. The aim of this paper is to give a review of published genetic chromosomal anomalies associated with autistic spectrum disorders, as well as to discuss common syndromes associated with autistic traits. In addition, some of our own findings in genetics, as well as in quantitative electroencephalography and neurofeedback training in autistic children, will be presented and discussed. Generally, the subsequent analyses indicate that the causes of autism include fewer common single-gene mutations and chromosomal abnormalities, as well as multiple interacting genes of weak effect. Genome-wide linkage analysis has identified several susceptibility loci and positional and functional candidate genes which appear to represent possible risks of the autistic spectrum. Electrophysiological findings showed high delta/theta activity in frontal-central regions, while in 25% high beta activity was detected as a result of anxiety. Neurofeedback is a promising therapy for symptom mitigation. Key words: autism, genetics, chromosomes, candidate gene, quantitative EEG, neurofeedback.
12. Pragnya B, Kameshwari JS, Veeresh B. {{Ameliorating Effect of Piperine on Behavioral Abnormalities and Oxidative Markers in Sodium Valproate Induced Autism In BALB/C Mice}}. {Behav Brain Res};2014 (May 3)
Post natal exposure to VPA (Valproic acid) in mice induces behavioral deficits, abnormal sensitivity to sensory stimuli and self-injurious behavior, observed in autism. Piperine has been reported to have protective effect on brain. The present study aimed at evaluating effect of piperine on VPA induced neurobehavioral and biochemical alterations in BALB/c mice. Young BALB/c mice of 13 day old were procured from five different litters and segregated into five groups (n=6; 3male, 3female) i.e., Group I served as control group, received physiological saline on PND (Post natal day) 14 & Tween 80 p.o. from PND13-40. Group II served as normal treated group and received piperine (20mg/kg p.o) from PND 13-40 and saline s.c. on PND 14. Group III served as valproate treated group received VPA (400mg/kg s.c.) on PND 14 and Tween 80 p.o. from PND 13-40. Group IV & V served as disease treated group received VPA (400mg/kg s.c.) on PND 14 & piperine (5 & 20mg/kg p.o.) from PND 13-40 respectively. BALB/c mice pups were subjected to behavioral testing to assess motor skill development, nociceptive response, locomotion, anxiety, cognition on various postnatal days up to PND 40. At the end of behavioral evaluation, mice were sacrificed; brain was isolated for biochemical estimations (serotonin, glutathione, MDA and nitric oxide) and histopathological examination. Our study revealed that treatment with piperine significantly improved behavioral alterations, lowered oxidative stress markers, and restored histoarchitecture of cerebellum. This ameliorating effect of piperine is attributed to its anti-oxidant activity, cognition enhancing and neuroprotective activity.
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13. Reynolds LC, Inder TE, Neil JJ, Pineda RG, Rogers CE. {{Maternal obesity and increased risk for autism and developmental delay among very preterm infants}}. {J Perinatol};2014 (May 8)
Objective:Thirty-five percent of women of child-bearing age are obese, and there is evidence that maternal obesity may increase the risk for adverse neurodevelopmental outcome. However, research regarding obesity and neurodevelopment among children born preterm is limited. This study aimed to determine associations between maternal obesity and neurodevelopment in very preterm children at age 2 years.Study Design:Maternal/infant dyads (n=62) born 30 weeks gestation were enrolled in a prospective cohort study at a level-III neonatal intensive care unit. Mothers were classified as obese or non-obese based on pre-pregnancy body mass index. Infants underwent magnetic resonance imaging at term equivalent and developmental testing at age 2. Maternal obesity was investigated for associations with neurodevelopment.Result:Maternal obesity was associated with positive screen for autism (odds ratio=9.88, P=0.002) and lower composite language scores (beta=-9.36, (confidence interval=-15.11, -3.61), P=0.002).Conclusion:Maternal obesity was associated with adverse neurodevelopmental outcome at age 2 in this cohort of very preterm children. This study requires replication, but may support targeted surveillance of infants born to women with maternal obesity.Journal of Perinatology advance online publication, 8 May 2014; doi:10.1038/jp.2014.80.
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14. Simon MW. {{Autism Spectrum Disorder: Genetic Versus Environmental}}. {Clin Pediatr (Phila)};2014 (May 6)
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15. Singh L, Harrow MS. {{Influences of Semantic and Prosodic Cues on Word Repetition and Categorization in Autism}}. {J Speech Lang Hear Res};2014 (May 6)
PURPOSE To investigate sensitivity to prosodic and semantic cues to emotion in individuals with High Functioning Autism. METHOD Emotional prosody and semantics were independently manipulated to assess the relative influence of prosody versus semantics on speech processing. A sample of 10 year-old typically-developing children (n = 10) and children with High Functioning Autism (HFA) (n = 10) were asked to repeat words that were either emotionally congruent or incongruent in form and content (Experiment 1a). In a second task (Experiment 1b), the same participants were asked to classify stimuli based on emotional prosody. A final experiment (Experiment 2) focused on sensitivity to congruence in a non-emotional source of variation: talker gender. RESULTS Results revealed a selective impairment in spontaneous integration of prosodic and semantic cues to emotion in High Functioning Autism. However, the same participants were able to categorize emotions based on prosody under reduced task demands. Individuals with HFA were highly sensitive to another surface characteristic in speech: talker gender. CONCLUSIONS The study reveals impairment in the spontaneous integration of prosodic and semantic cues to emotion in HFA. However, insensitivity to surface detail, such as prosody, in HFA appears to be highly task-dependent and selective to the domain of emotion.
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16. Smith MJ, Ginger EJ, Wright K, Wright MA, Taylor JL, Humm LB, Olsen DE, Bell MD, Fleming MF. {{Virtual Reality Job Interview Training in Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (May 7)
The feasibility and efficacy of virtual reality job interview training (VR-JIT) was assessed in a single-blinded randomized controlled trial. Adults with autism spectrum disorder were randomized to VR-JIT (n = 16) or treatment-as-usual (TAU) (n = 10) groups. VR-JIT consisted of simulated job interviews with a virtual character and didactic training. Participants attended 90 % of laboratory-based training sessions, found VR-JIT easy to use and enjoyable, and they felt prepared for future interviews. VR-JIT participants had greater improvement during live standardized job interview role-play performances than TAU participants (p = 0.046). A similar pattern was observed for self-reported self-confidence at a trend level (p = 0.060). VR-JIT simulation performance scores increased over time (R 2 = 0.83). Results indicate preliminary support for the feasibility and efficacy of VR-JIT, which can be administered using computer software or via the internet.
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17. Tell D, Davidson D, Camras LA. {{Recognition of emotion from facial expressions with direct or averted eye gaze and varying expression intensities in children with autism disorder and typically developing children}}. {Autism Res Treat};2014;2014:816137.
Eye gaze direction and expression intensity effects on emotion recognition in children with autism disorder and typically developing children were investigated. Children with autism disorder and typically developing children identified happy and angry expressions equally well. Children with autism disorder, however, were less accurate in identifying fear expressions across intensities and eye gaze directions. Children with autism disorder rated expressions with direct eyes, and 50% expressions, as more intense than typically developing children. A trend was also found for sad expressions, as children with autism disorder were less accurate in recognizing sadness at 100% intensity with direct eyes than typically developing children. Although the present research showed that children with autism disorder are sensitive to eye gaze direction, impairments in the recognition of fear, and possibly sadness, exist. Furthermore, children with autism disorder and typically developing children perceive the intensity of emotional expressions differently.
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18. Wade JL, Cox NB, Reeve RE, Hull M. {{Brief Report: Impact of Child Problem Behaviors and Parental Broad Autism Phenotype Traits on Substance Use Among Parents of Children with ASD}}. {J Autism Dev Disord};2014 (May 8)
Using data from the Simons Simplex Collection, the present study examined the impact of child externalizing behavior and parental broad autism phenotype traits on substance use among parents of children with autism spectrum disorder (n = 2,388). For both fathers and mothers, child externalizing behaviors predicted tobacco use (OR = 1.01 and OR = 1.02, respectively), whereas rigidity increased risk of tobacco use for fathers (OR = 1.29) but not mothers. Additionally, among mothers, child externalizing behaviors increased risk of illegal substance use (OR = 1.04), whereas maternal rigidity decreased risk of alcohol use (OR = .83). Collectively, results suggest that child externalizing behaviors and parental rigidity may have differing impacts on the types of substances used by parents.
