1. Bi T, Fang F. {{Impaired Face Perception in Individuals with Autism Spectrum Disorder: Insights on Diagnosis and Treatment}}. {Neurosci Bull}. 2017.
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2. Cameron JL, Eagleson KL, Fox NA, Hensch TK, Levitt P. {{Social Origins of Developmental Risk for Mental and Physical Illness}}. {J Neurosci}. 2017; 37(45): 10783-91.
Adversity in early childhood exerts an enduring impact on mental and physical health, academic achievement, lifetime productivity, and the probability of interfacing with the criminal justice system. More science is needed to understand how the brain is affected by early life stress (ELS), which produces excessive activation of stress response systems broadly throughout the child’s body (toxic stress). Our research examines the importance of sex, timing and type of stress exposure, and critical periods for intervention in various brain systems across species. Neglect (the absence of sensitive and responsive caregiving) or disrupted interaction with offspring induces robust, lasting consequences in mice, monkeys, and humans. Complementary assessment of internalizing disorders and brain imaging in children suggests that early adversity can interfere with white matter development in key brain regions, which may increase risk for emotional difficulties in the long term. Neural circuits that are most plastic during ELS exposure in monkeys sustain the greatest change in gene expression, offering a mechanism whereby stress timing might lead to markedly different long-term behaviors. Rodent models reveal that disrupted maternal-infant interactions yield metabolic and behavioral outcomes often differing by sex. Moreover, ELS may further accelerate or delay critical periods of development, which reflect GABA circuit maturation, BDNF, and circadian Clock genes. Such factors are associated with several mental disorders and may contribute to a premature closure of plastic windows for intervention following ELS. Together, complementary cross-species studies are elucidating principles of adaptation to adversity in early childhood with molecular, cellular, and whole organism resolution.
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3. Chen YT, Tsou KS, Chen HL, Wong CC, Fan YT, Wu CT. {{Functional but Inefficient Kinesthetic Motor Imagery in Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Whether action representation in individuals with autism spectrum disorder (ASD) is deficient remains controversial, as previous studies of action observation or imitation report conflicting results. Here we investigated the characteristics of action representation in adolescents with ASD through motor imagery (MI) using a hand rotation and an object rotation task. Comparable with the typically-developing group, the individuals with ASD were able to spontaneously use kinesthetic MI to perform the hand rotation task, as manifested by the significant biomechanical effects. However, the ASD group performed significantly slower only in the hand rotation task, but not in the object rotation task. The findings suggest that the adolescents with ASD showed inefficient but functional kinesthetic MI, implicating that their action representation might be preserved.
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4. Creaby-Attwood A, Allely CS. {{A psycho-legal perspective on sexual offending in individuals with autism Spectrum disorder}}. {Int J Law Psychiatry}. 2017; 55: 72-80.
It is important to consider whether there are innate vulnerabilities that increase the risk of an individual with an autistic spectrum disorder (ASD), predominantly those defendants with a diagnosis of Asperger’s Syndrome, being charged and convicted of a sexual offence. The significance of such can be readily seen in recent English case law, with judgments on appeal finding convictions unsafe where there have been a number of failings in the Judge’s summing up. In this article, we will consider the gravity of Judges omitting to highlight a defendant’s diagnosis of autism spectrum disorder and the necessity of detailed explanations to jury members regarding the condition and its effect upon thoughts and behaviour. Consideration will be specifically given to the necessity to prove sexual motivation in such offences and the judicial direction required in relation to whether the appellant’s actions had been sexually motivated. Recognition of the social impairments inherent in ASDs are vital to this work and we shall consider whether the difficulty with the capacity to develop appropriate, consenting sexual relationships as a result of impaired social cognition may be one of the factors which increases the risk of sexual offending in individuals with ASD (Higgs & Carter, 2015).
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5. Goodrich AJ, Volk HE, Tancredi DJ, McConnell R, Lurmann FW, Hansen RL, Schmidt RJ. {{Joint effects of prenatal air pollutant exposure and maternal folic acid supplementation on risk of autism spectrum disorder}}. {Autism Res}. 2017.
Independent studies report that periconceptional folic acid (FA) may decrease the risk of autism spectrum disorder (ASD) while exposure to air pollution may increase ASD risk. We examined the joint effects of gestational FA and air pollution exposures in association with ASD. We studied 346 ASD cases and 260 typically developing controls from the CHARGE case-control study. Self-reported FA intake for each month of pregnancy was quantified. Estimates of exposure to near roadway air pollution (NRP) and criteria air pollutant measures were assigned based on maternal residential history. Among mothers with high FA intake (>800 mug) in the first pregnancy month, exposure to increasing levels of all air pollutants, except ozone, during the first trimester was associated with decreased ASD risk, while increased ASD risk was observed for the same pollutant among mothers with low FA intake (/= median) of any air pollutant during the first trimester of pregnancy and who reported low FA intake were at a higher ASD risk compared to mothers exposed to lower levels of that air pollutant and who reported high first month FA intake. Joint effects showed significant (alpha < 0.10) departures from expected interaction for NRP and NO2 . Our results suggest that periconceptional FA intake may reduce ASD risk in those with high prenatal air pollution exposure. Further study is needed to replicate these findings in larger sample sizes and to understand mechanisms of this potential relationship.. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We examined interactions between periconceptional folic acid (FA) and air pollution exposure on risk of ASD. Mothers exposed to higher levels of air pollution during the first trimester of pregnancy and who reported low supplemental FA intake during the first pregnancy month were at a higher ASD risk compared to mothers exposed to lower levels of air pollution and who reported high first month FA intake. Our results suggest that periconceptional FA intake may reduce ASD risk in those with high prenatal air pollution exposure. Lien vers le texte intégral (Open Access ou abonnement)
6. Heffernan KS, Columna L, Russo N, Myers BA, Ashby CE, Norris ML, Barreira TV. {{Brief Report: Physical Activity, Body Mass Index and Arterial Stiffness in Children with Autism Spectrum Disorder: Preliminary Findings}}. {J Autism Dev Disord}. 2017.
We examined the association between physical activity (PA), body mass index (BMI) and novel measures of subclinical cardiovascular disease (CVD) in 15 children with autism spectrum disorder (ASD) (mean age 7 +/- 2 years, 2 girls). PA was objectively assessed using accelerometry as time spent in moderate-vigorous physical activity (MVPA). Arterial stiffness was measured via aortic pulse wave velocity (PWV) and taken as a marker of subclinical CVD risk. MVPA was inversely associated with aortic PWV (r = – 0.46, p < 0.05). BMI percentile was positively associated with aortic PWV (r = 0.61, p < 0.05). Overall findings suggest that reduced PA and higher body mass in children with ASD are associated with increased arterial stiffness which may have a detrimental impact on overall cardiovascular health. Lien vers le texte intégral (Open Access ou abonnement)
7. Kaur M, S MS, A NB. {{Comparing motor performance, praxis, coordination, and interpersonal synchrony between children with and without Autism Spectrum Disorder (ASD)}}. {Res Dev Disabil}. 2017; 72: 79-95.
Children with Autism Spectrum Disorder (ASD) have basic motor impairments in balance, gait, and coordination as well as autism-specific impairments in praxis/motor planning and interpersonal synchrony. Majority of the current literature focuses on isolated motor behaviors or domains. Additionally, the relationship between cognition, symptom severity, and motor performance in ASD is unclear. We used a comprehensive set of measures to compare gross and fine motor, praxis/imitation, motor coordination, and interpersonal synchrony skills across three groups of children between 5 and 12 years of age: children with ASD with high IQ (HASD), children with ASD with low IQ (LASD), and typically developing (TD) children. We used the Bruininks-Oseretsky Test of Motor Proficiency and the Bilateral Motor Coordination subtest of the Sensory Integration and Praxis Tests to assess motor performance and praxis skills respectively. Children were also examined while performing simple and complex rhythmic upper and lower limb actions on their own (solo context) and with a social partner (social context). Both ASD groups had lower gross and fine motor scores, greater praxis errors in total and within various error types, lower movement rates, greater movement variability, and weaker interpersonal synchrony compared to the TD group. In addition, the LASD group had lower gross motor scores and greater mirroring errors compared to the HASD group. Overall, a variety of motor impairments are present across the entire spectrum of children with ASD, regardless of their IQ scores. Both, fine and gross motor performance significantly correlated with IQ but not with autism severity; however, praxis errors (mainly, total, overflow, and rhythmicity) strongly correlated with autism severity and not IQ. Our study findings highlight the need for clinicians and therapists to include motor evaluations and interventions in the standard-of-care of children with ASD and for the broader autism community to recognize dyspraxia as an integral part of the definition of ASD.
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8. Kawasaki M, Kitajo K, Fukao K, Murai T, Yamaguchi Y, Funabiki Y. {{Frontal theta activation during motor synchronization in autism}}. {Sci Rep}. 2017; 7(1): 15034.
Autism is characterized by two primary characteristics: deficits in social interaction and repetitive behavioral patterns. Because interpersonal communication is extremely complicated, its underlying brain mechanisms remain unclear. Here we showed that both characteristics can be explained by a unifying underlying mechanism related to difficulties with irregularities. To address the issues, we measured electroencephalographm during a cooperative tapping task, which required participants to tap a key alternately and synchronously with constant rhythmic a PC program, a variable rhythmic PC program, or a human partner. We found that people with autism had great difficulty synchronizing tapping behavior with others, and exhibited greater than normal theta-wave (6 Hz) activity in the frontal cortex during the task, especially when their partner behaved somewhat irregularly (i.e. a variable rhythmic PC program or a human partner). Importantly, the higher theta-wave activity was related to the severity of autism, not the performance on the task. This indicates that people with autism need to use intense cognition when trying to adapt to irregular behavior and can easily become overtaxed. Difficulty adapting to irregular behavior in others is likely related to their own tendencies for repetitive and regular behaviors. Thus, while the two characteristics of autism have been comprehended separately, our unifying theory makes understanding the condition and developing therapeutic strategies more tractable.
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9. Kern JK, Geier DA, Deth RC, Sykes LK, Hooker BS, Love JM, Bjorklund G, Chaigneau CG, Haley BE, Geier MR. {{Systematic Assessment of Research on Autism Spectrum Disorder (ASD) and Mercury Reveals Conflicts of Interest and the Need for Transparency in Autism Research}}. {Sci Eng Ethics}. 2017.
Historically, entities with a vested interest in a product that critics have suggested is harmful have consistently used research to back their claims that the product is safe. Prominent examples are: tobacco, lead, bisphenol A, and atrazine. Research literature indicates that about 80-90% of studies with industry affiliation found no harm from the product, while only about 10-20% of studies without industry affiliation found no harm. In parallel to other historical debates, recent studies examining a possible relationship between mercury (Hg) exposure and autism spectrum disorder (ASD) show a similar dichotomy. Studies sponsored and supported by industry or entities with an apparent conflict of interest have most often shown no evidence of harm or no « consistent » evidence of harm, while studies without such affiliations report positive evidence of a Hg/autism association. The potentially causal relationship between Hg exposure and ASD differs from other toxic products since there is a broad coalition of entities for whom a conflict of interest arises. These include influential governmental public health entities, the pharmaceutical industry, and even the coal burning industry. This review includes a systematic literature search of original studies on the potential relationship between Hg and ASD from 1999 to August 2015, finding that of the studies with public health and/or industry affiliation, 86% reported no relationship between Hg and ASD. However, among studies without public health and/or industry affiliation, only 21% find no relationship between Hg and ASD. The discrepancy in these results suggests a bias indicative of a conflict of interest.
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10. Li K, Li L, Cui B, Gai Z, Li Q, Wang S, Yan J, Lin B, Tian L, Liu H, Liu X, Xi Z. {{Early postnatal exposure to airborne fine particulate matter induces autism-like phenotypes in male rats}}. {Toxicol Sci}. 2017.
Epidemiological studies have revealed that ambient fine particulate matter (PM2.5) exposure is closely associated with autism spectrum disorder (ASD). However, there is a relative paucity of laboratory data to support this epidemic finding. In order to assess the relationship between PM2.5 exposure and ASD, neonatal male Sprague-Dawley (SD) rats were chosen and exposed to PM2.5 (2 or 20 mg/kg body weight, once a day) by intranasal instillation from postnatal day (PND) 8 to 22. It was found that when exposed to PM2.5 in the early neonatal period for two weeks, both groups of the exposure rats manifested typical behavioral features of autism, including communication deficits, poor social interaction and novelty avoidance. And, we further found, among five ASD candidate genes we chose, both the mRNA level and protein expression of SH3 and multiple ankyrin repeat domains 3 (Shank3) decreased significantly in the rat hippocampus after high dose of PM2.5 exposure. Moreover, results showed that PM2.5-exposure significantly increased the levels of pro-inflammatory cytokines, IL-1beta, IL-6, and TNF-alpha in the hippocampus and prefrontal cortex. The expression of Glial fibrillary acidic protein (GFAP) and ionized binding calcium adapter molecule (IBA1), markers of astrocytes and microglial cell activation, respectively, also increased in the exposed animals. Our work provides new data on the link between postnatal exposure to ambient PM2.5 and the onset of ASD-like symptoms in human beings, and the increased inflammatory response and abnormalities in Shank3 expression in the brain may contribute to the mechanisms of PM2.5 exposure induced ASD.
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11. MacNaul HL, Neely LC. {{Systematic Review of Differential Reinforcement of Alternative Behavior Without Extinction for Individuals With Autism}}. {Behav Modif}. 2017: 145445517740321.
The purpose of this article is to review the literature on differential reinforcement of alternative behavior procedures without extinction for individuals with autism. Using predetermined inclusion criteria, a total of 10 studies were included and summarized in terms of the following: (a) participant characteristics (e.g., sex, age, and diagnosis), (b) treatment setting, (c) problem behavior, (d) function, (e) alternative behavior, (f) intervention, (g) outcomes, and (h) conclusiveness of evidence. Of the 10 studies, nine demonstrated positive effects and one mixed effects. Five studies successfully reduced problem behavior by manipulating different reinforcement parameters (magnitude, immediacy, and quality) and four manipulated the schedule of reinforcement. One study had mixed results with two of the three participants requiring extinction. The findings of this review suggest that variations of differential reinforcement of alternative behavior interventions without an extinction component may be considered promising practices for the treatment of challenging behavior in individuals with autism.
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12. Pantelis PC, Kennedy DP. {{Deconstructing atypical eye gaze perception in autism spectrum disorder}}. {Sci Rep}. 2017; 7(1): 14990.
The ability to discern the target of another person’s gaze is critical for social and linguistic development, but functions atypically in autism spectrum disorder (ASD). A multi-pronged approach allowed us to deconstruct this complex ability, to uncover the fundamental bases of this impairment. We analyzed performance on a novel gaze perception task with classical psychophysical metrics (precision and accuracy), principal component analysis (in the analysis of spatial biases), and Bayesian computational modeling (in the analysis of individual subjects’ use of contextual salience cues). Compared to controls, adults with ASD were less precise and less accurate in their judgments of gaze direction. Further, although nearly all controls exhibited a prototypical pattern of spatial bias in their judgments, this spatial prior was severely disrupted among a large subset of ASD participants. By contrast, Bayesian computational modeling revealed that both groups exploited contextual salience cues in their gaze judgments, and that the average strength of this contextual prior was similar for both groups. This comprehensive study revealed that although most ASD participants performed atypically in at least one aspect of gaze perception, the particular aspects disrupted varied idiosyncratically across individuals. Impairment in gaze perception in ASD likely arises via heterogeneous underlying mechanisms.
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13. Piccin S, Crippa A, Nobile M, Hardan AY, Brambilla P. {{Video modeling for the development of personal hygiene skills in youth with autism spectrum disorder}}. {Epidemiol Psychiatr Sci}. 2017: 1-6.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder mainly characterised by deficits in social communication as well as by narrow patterns of behaviour and interests (American Psychiatric Association, 2013), often accompanied by language, intellectual and sensory impairments. The severity of these impairments may lead to deficits in the development of daily living activities such as simple meal preparation and feeding, community skills (e.g. buying groceries), personal care (e.g. dressing) and personal hygiene skills (bathing, toileting, hand washing, teeth brushing) needed for independence. Among others, the lack of independence in personal hygiene skills increases the burden of the caregiver and makes children with ASD more dependent (Flynn & Healy, 2012). Therefore, it is important to develop tools for helping individuals with ASD in increasing their ability to perform these basic life activities which will lead to savings that can be invested in other critical areas of needs.
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14. Rausch A, Zhang W, Beckmann CF, Buitelaar JK, Groen WB, Haak KV. {{Connectivity-Based Parcellation of the Amygdala Predicts Social Skills in Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Amygdala dysfunction plays a role in the social impairments in autism spectrum disorders (ASD), but it is unclear which of its subregions are abnormal in ASD. This study compared the volume and functional connectivity (FC) strength of three FC-defined amygdala subregions between ASD and controls, and assessed their relation to social skills in ASD. A subregion associated with the social perception network was enlarged in ASD (F1 = 7.842, p = .008) and its volume correlated significantly with symptom severity (social skills: r = .548, p = .009). Posthoc analysis revealed that the enlargement was driven by the vmPFC amygdala network. These findings refine our understanding of abnormal amygdala connectivity in ASD and may inform future strategies for therapeutic interventions targeting the amygdalofrontal pathway.
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15. Richards C, Powis L, Moss J, Stinton C, Nelson L, Oliver C. {{Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder}}. {J Neurodev Disord}. 2017; 9(1): 37.
BACKGROUND: The limited behavioural phenotype literature on Phelan-McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD in PMS are also reported, with some studies demonstrating similarities to idiopathic ASD and others indicating an uneven profile of social and communication impairments and repetitive behaviours. An evaluation of the behavioural phenotype of PMS and the prevalence and phenomenology of ASD is warranted, particularly given the causal involvement of the SHANK3 gene in the aetiology of PMS. METHODS: Carers of individuals with PMS (N = 30; mean age = 10.55, SD = 7.08) completed questionnaires relating to impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and ASD phenomenology. These data were compared to data from matched samples of individuals with fragile X and Down syndromes and idiopathic ASD. In order to evaluate the profile of ASD phenomenology in PMS, two comparisons were made: first, including the total sample with PMS, and second, including only those who met the threshold indicative of autism on an ASD screening measure. RESULTS: The results revealed lower mood in individuals with PMS, but no differences in impulsivity and overactivity. Compulsive and routine-driven repetitive behaviours were less common in the total sample with PMS; however, motor-based stereotyped behaviours were more common. ASD phenomenology was highly prevalent, with 87% of the sample meeting the cutoff score for ASD and 57% meeting the cutoff for autism. The profile of ASD phenomenology in the total sample with PMS differed from those with idiopathic ASD across impairments in communication and social interaction and repetitive behaviour. However, the profile of those who met the threshold for autism was commensurate to those with idiopathic ASD. CONCLUSIONS: ASD phenomenology is common within PMS. Whilst the total sample may display an atypical profile of ASD behaviour, the profile in those who met the threshold for autism was very similar to those with idiopathic ASD. These results are discussed in relation to the wider behavioural phenotype and the emerging evidence of an autism endophenotype in PMS.
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16. Robinson S, Hastings RP, Weiss JA, Pagavathsing J, Lunsky Y. {{Self-compassion and psychological distress in parents of young people and adults with intellectual and developmental disabilities}}. {J Appl Res Intellect Disabil}. 2017.
BACKGROUND: Parenting an individual with intellectual and developmental disabilities (IDD) can be challenging, particularly during adulthood. It is important to better understand ways of supporting families as individuals with IDD age. Self-compassion is a potential internal coping resource for parents, and is strongly linked to positive mental health outcomes, though research has yet to examine it in parents of adults with IDD. METHOD: The current study examines the association between self-compassion and measures of well-being for 56 parents of adults with IDD. RESULTS: Greater self-compassion was related to lower levels of stress and depression, even after accounting for other known stressors, such as economic disadvantage, having a child with an Autism Spectrum Disorder diagnosis, and high parent burden. CONCLUSIONS: Self-compassion may offer resiliency against these parenting challenges.
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17. Russo-Ponsaran N, McKown C, Johnson J, Russo J, Crossman J, Reife I. {{Virtual Environment for Social Information Processing: Assessment of Children with and without Autism Spectrum Disorders}}. {Autism Res}. 2017.
Social information processing (SIP) skills are critical for developing and maintaining peer relationships. Building on existing assessment techniques, Virtual Environment for SIP (VESIP(TM) ), a simulation-based assessment that immerses children in social decision-making scenarios, was developed. This study presents preliminary evidence of VESIP’s usefulness for measuring SIP skills in children with and without autism spectrum disorders (ASD). Twenty-one children with ASD and 29 control children participated. It was hypothesized that (a) children (8-12 years old), with and without ASD, would understand and interact effectively with VESIP; (b) VESIP scores would be reliable in both populations; and (c) children with ASD would score lower on SIP domains than typically developing peers. Results supported these hypotheses. Finally, response bias was also evaluated, showing that children with ASD have different problem-solving strategies than their peers. VESIP has great potential as a scalable assessment of SIP strengths and challenges in children with and without ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Children with autism spectrum disorders (ASDs) often struggle interpreting and responding to social situations. The present study suggests that an animated, simulation-based assessment approach is an effective way to measure how children with or without ASDs problem-solve challenging social situations. VESIP is an easy-to-use assessment tool that can help practitioners understand a child’s particular strengths and weaknesses.
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18. Spaniol MM, Shalev L, Kossyvaki L, Mevorach C. {{Attention Training in Autism as a Potential Approach to Improving Academic Performance: A School-Based Pilot Study}}. {J Autism Dev Disord}. 2017.
This study assessed the effectiveness of an attention intervention program (Computerized Progressive Attentional Training; CPAT) in improving academic performance of children with ASD. Fifteen 6-10 year olds with ASD attending a mainstream and a special school were assigned to an experimental (CPAT; n = 8) and active control (computer games; n = 7) group. Children were assessed pre- and post-intervention on measures of behavioural symptoms, cognitive skills and academic performance. The intervention was conducted in school twice a week for 8 weeks. Children in the CPAT group showed cognitive and academic improvements over and above the active control group, while children in both groups showed improvements in behaviour. Results suggest that attention training is a feasible approach to improving academic performance in this population.
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19. Strasser L, Downes M, Kung J, Cross JH, De Haan M. {{Prevalence and risk factors for autism spectrum disorder in epilepsy: a systematic review and meta-analysis}}. {Dev Med Child Neurol}. 2017.
AIM: To assess the prevalence and risk factors for autism spectrum disorder (ASD) in epilepsy, and to better understand the relationship and comorbidity between these disorders. METHOD: PsychINFO and PubMed were searched for articles published in the past 15 years that examined the prevalence of ASD in individuals with epilepsy. RESULTS: A total of 19 studies were found with a pooled ASD prevalence of 6.3% in epilepsy. When divided by type, the risks of ASD for general epilepsy, infantile spasms, focal seizures, and Dravet syndrome were 4.7%, 19.9%, 41.9%, and 47.4% respectively. Studies with populations under 18 years showed a 13.2 times greater risk of ASD than study populations over 18 years, and samples with most (>50%) individuals with intellectual disability showed a greater risk 4.9 times higher than study populations with a minority of individuals with intellectual disability. The main risk factors for ASD reported in the 19 studies included presence of intellectual disability, sex, age, and symptomatic aetiology of epilepsy. INTERPRETATION: Current research supports a high prevalence of ASD in epilepsy. This study helps to define the clinical profile of patients with epilepsy who are at risk for ASD, which may help clinicians in early screening and diagnosis of ASD in this population. WHAT THIS PAPER ADDS: Critical evaluation of previous studies examining the prevalence of autism spectrum disorder (ASD) in individuals with epilepsy. A meta-analysis of 19 studies showed a pooled ASD prevalence of 6.3% in individuals with epilepsy. Studies that included a majority of individuals with intellectual disability or younger population age had a higher prevalence of autism. Risk factors reported in studies included presence of intellectual disability, sex, age, and symptomatic epilepsy origin.
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20. Tora D, Gomez AM, Michaud JF, Yam PT, Charron F, Scheiffele P. {{Cellular Functions of the Autism Risk Factor PTCHD1 in Mice}}. {J Neurosci}. 2017.
The gene PTCHD1 is mutated in patients with autism spectrum disorders (ASD) and intellectual disabilities (ID) and has been hypothesized to contribute to Sonic hedgehog (Shh) signaling and synapse formation. We identify a panel of Ptchd1 interacting proteins that include postsynaptic density proteins and the retromer complex, revealing a link to critical regulators of dendritic and postsynaptic trafficking. Ptchd1 knock-out male mice exhibit cognitive alterations, including defects in a novel object recognition task. To test whether Ptchd1 is required for Shh-dependent signaling, we examined two Shh-dependent cell populations that express high levels of Ptchd1 mRNA: cerebellar granule cell precursors and dentate granule cells in the hippocampus. We find that proliferation of these neuronal precursors is not significantly altered in Ptchd1 knock-out male mice. We used whole-cell electrophysiology and anatomical methods to assess synaptic function in Ptchd1-deficient dentate granule cells. In the absence of Ptchd1, we observed profound disruption in excitatory/inhibitory balance despite normal dendritic spine density on dentate granule cells. These findings support a critical role of Ptchd1 protein in the dentate gyrus but indicate that it is not required for structural synapse formation in dentate granule cells or for Shh-dependent neuronal precursor proliferation.SIGNIFICANCE STATEMENTThe mechanisms underlying neuronal and cellular alterations resulting from Ptchd1 mutations are unknown. The results from this study support an association with dendritic trafficking complexes of Ptchd1. Loss-of-function experiments do not support a role in sonic-hedgehog-dependent signaling but reveal a disruption of synaptic transmission in the mouse dentate gyrus. The findings will help guide ongoing efforts on understanding the etiology of neurodevelopmental disorders arising from Ptchd1-deficiency.
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21. Wiens D, DeSoto MC. {{Is High Folic Acid Intake a Risk Factor for Autism?-A Review}}. {Brain Sci}. 2017; 7(11).
Folate is required for metabolic processes and neural development. Insuring its adequate levels for pregnant women through supplementation of grain-based foods with synthetic folic acid (FA) in order to prevent neural tube defects has been an ongoing public health initiative. However, because women are advised to take multivitamins containing FA before and throughout pregnancy, the supplementation together with natural dietary folates has led to a demographic with high and rising serum levels of unmetabolized FA. This raises concerns about the detrimental effects of high serum synthetic FA, including a rise in risk for autism spectrum disorder (ASD). Some recent studies have reported a protective effect of FA fortification against ASD, but others have concluded there is an increased risk for ASD and other negative neurocognitive development outcomes. These issues are accompanied by further health questions concerning high, unmetabolized FA levels in serum. In this review, we outline the reasons excess FA supplementation is a concern and review the history and effects of supplementation. We then examine the effects of FA on neuronal development from tissue culture experiments, review recent advances in understanding of metabolic functional blocks in causing ASD and treatment for these with alternative forms such as folinic acid, and finally summarize the conflicting epidemiological findings regarding ASD. Based on the evidence evaluated, we conclude that caution regarding over supplementing is warranted.
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22. Wong MK, So WC. {{Absence of delay in spontaneous use of gestures in spoken narratives among children with Autism Spectrum Disorders}}. {Res Dev Disabil}. 2017; 72: 128-39.
BACKGROUND: Gestures are spontaneous hand movements produced when speaking. Despite gestures being of communicative significance, little is known about the gestural production in spoken narratives in six- to 12-year-old children with Autism Spectrum Disorders (ASD). AIMS: The present study examined whether six- to 12-year-old children with ASD have a delay in gestural production in a spoken narrative task, in comparison to their typically-developing (TD) peers. METHODS AND PROCEDURES: Six- to-12-year-old children with ASD (N=14) and their age- and IQ-matched TD peers (N=12) narrated a story, which could elicit spontaneous speech and gestures. Their speech and gestures were then transcribed and coded. OUTCOMES AND RESULTS: Both groups of children had comparable expressive language skills. Children with ASD produced a similar number of pointing and marker gestures to TD children and significantly more iconic gestures in their spoken narratives. While children with ASD produced more reinforcing gestures than their TD counterparts, both groups of children produced comparable numbers of disambiguating and supplementary gestures. CONCLUSIONS: Our findings indicate that children with ASD may be as capable as TD children in gestural production when they engage in spoken narratives, which gives them spontaneity in producing gestures.
