1. Aksu F, Baykara B, Ergin C, Arman C. {{[Phenotypic Features in Autistic Individuals: The Finger Length Ratio (2D:4D), Hair Whorl, and Hand Dominance]}}. {Turk psikiyatri dergisi = Turkish journal of psychiatry}. 2013 Summer;24(2):94-100.
OBJECTIVE: The aim of this study was to compare the finger length ratio (2D:4D), hair whorl direction, and hand, foot, and eye dominance in autistic and healthy individuals, and to investigate the phenotypic characteristics of autism. MATERIALS AND METHODS: The study included 37 males diagnosed with autistic disorder and 121 healthy males, all aged 4-18 years. The length of the index and ring fingers of both hands (3/4) from the proximal bend of the metacarpophalangeal joint to the fingertips (3/4) was measured with digital calipers and the index-ring finger (2D:4D) ratio was determined. The distance between hair whorls, their perpendicular distance from the mid-sagittal line, and their direction of rotation were calculated in the autism and control groups. Hand, foot, and eye dominance were determined in both groups. The findings were evaluated using SPSS v.15.0. RESULTS: The autism group had a greater number of hair whorls than the control group. The distance between hair whorls and the mid-sagittal line was longer in those with left hand and left eye dominance. A significant difference in the 2D:4D ratio of the right and left hands between the 2 groups was not observed. CONCLUSION: The autism group had more hair whorls than the control group and the hair whorls in the autistic individuals with left hand and left eye dominance were located further from the mid-saggital line. We think that these novel findings might contribute to the determination of the phenotypic features specific to autism.
2. Bachmann CJ, Manthey T, Kamp-Becker I, Glaeske G, Hoffmann F. {{Psychopharmacological treatment in children and adolescents with autism spectrum disorders in Germany}}. {Research in developmental disabilities}. 2013 Jun 6;34(9):2551-63.
Data on psychopharmacological treatment of individuals with autism spectrum disorder (ASD) are scarce, especially for European countries. This study evaluated psychopharmacotherapy utilisation in children and adolescents with a diagnosis of ASD in Germany. Data of a large statutory health insurance company were analysed and outpatients aged 0-24 years with a diagnosis of ASD during a 1-year-period (2009) were identified. For this cohort, the prescription of psychopharmacotherapy was evaluated. Aditionally, we analysed time trends in prescriptions from 2004 to 2009. One thousand one hundred twenty-four patients (75.4% male; mean age: 11.1 years) matched the inclusion criteria. The prevalence of ASD was 0.37% in males and 0.12% in females, respectively. Of all ASD patients, 33.0% were prescribed psychotropic drugs in 2009. 12.5% of ASD patients were treated with stimulants or atomoxetine, 11.7% with antipsychotics, 9.1% with antiepileptics, 6.8% with benzodiazepines, and 3.8% with antidepressants/SSRI. Regarding substances, methylphenidate (24.4% of all psychotropic prescriptions), risperidone (13.3%) and valproate (9.1%) were most frequently prescribed. Psychopharmacologic treatment prevalence was age-related and increased from 16.3% in individuals aged 0-4 years to 55.1% in 20-24 year olds. From 2004 to 2009, the proportion of ASD patients treated with psychotropic drugs rose from 25.9% to 33.0%. This naturalistic study furnishes evidence that the proportion of ASD patients treated with psychotropic drugs has grown considerably in Germany over the least years, with methylphenidate and risperidone being the most frequently prescribed substances. Compared with data from the USA, the proportion of ASD patients with psychopharmacological treatment is noticeably lower in Germany.
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3. Berthoz S, Lalanne C, Crane L, Hill EL. {{Investigating emotional impairments in adults with autism spectrum disorders and the broader autism phenotype}}. {Psychiatry Res}. 2013 Jun 6.
There is an increasing interest in the socio-affective atypicalities observed in adults with autism spectrum disorder (ASD). The aim of this study was to further explore emotional responsiveness in adults with ASD using well-validated self-reports of alexithymia and to determine whether anhedonic features are part of a broader autism phenotype (BAP). Participants comprised 38 adults with ASD, 87 parents of ASD individuals and 47 typical controls. All participants completed the Autism Spectrum Quotient (AQ), the 20-item Toronto Alexithymia Scale, and the Bermond-Vorst Alexithymia Questionnaire, as well as the Chapman Physical and Social Anhedonia Scales. The ASD group differed from controls and parents on most measures, with the exception of physical and social anhedonia, relative to parents. Parents differed from controls on social anhedonia, and a higher proportion of parents were classed as alexithymic, relative to controls. Cluster analysis revealed that some parents share more similarities with ASD participants than with controls. The results suggest that socio-affective impairments characteristic of ASD are part of the BAP.
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4. Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Lese Martin C, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Devlin B, Cook EH, Jr., Kim SJ. {{Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous Trait}}. {Biol Psychiatry}. 2013 Jun 6.
BACKGROUND: Brain development follows a different trajectory in children with autism spectrum disorders (ASD) than in typically developing children. A proxy for neurodevelopment could be head circumference (HC), but studies assessing HC and its clinical correlates in ASD have been inconsistent. This study investigates HC and clinical correlates in the Simons Simplex Collection cohort. METHODS: We used a mixed linear model to estimate effects of covariates and the deviation from the expected HC given parental HC (genetic deviation). After excluding individuals with incomplete data, 7225 individuals in 1891 families remained for analysis. We examined the relationship between HC/genetic deviation of HC and clinical parameters. RESULTS: Gender, age, height, weight, genetic ancestry, and ASD status were significant predictors of HC (estimate of the ASD effect = .2 cm). HC was approximately normally distributed in probands and unaffected relatives, with only a few outliers. Genetic deviation of HC was also normally distributed, consistent with a random sampling of parental genes. Whereas larger HC than expected was associated with ASD symptom severity and regression, IQ decreased with the absolute value of the genetic deviation of HC. CONCLUSIONS: Measured against expected values derived from covariates of ASD subjects, statistical outliers for HC were uncommon. HC is a strongly heritable trait, and population norms for HC would be far more accurate if covariates including genetic ancestry, height, and age were taken into account. The association of diminishing IQ with absolute deviation from predicted HC values suggests HC could reflect subtle underlying brain development and warrants further investigation.
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5. Crane FL, Low H, Sun IL. {{Evidence for a relation between plasma membrane coenzyme Q and autism}}. {Frontiers in bioscience (Elite edition)}. 2013;E5:1011-6.
Voltage Dependent Anion Channel (VDAC) in the cell membrane transports important molecules and ions across the cell membrane. It was recently shown that VDAC also acts as a trans membrane NADH dehydrogenase. A recent study showed that autistic children have increased antibodies to VDAC proteins and such a binding inhibits both the transport and dehydrogenase activities of VDAC. The derived function of VDAC, therefore, might underlie the development of autism. It has also recently been shown that the dehydrogenase in erythrocyte membranes requires coenzyme Q. Since the plasma membrane oxidase is not in erythrocyte membranes, the coenzyme Q requirement must be for VDAC. This is consistent with sensitivity of the dehydrogenase to SH inhibitors. This is a novel site for coenzyme Q function but it has an analogy with the Q requirement for the mitochondrial uncoupler protein and the permeability transition pore.
6. Dealberto MJ. {{Are different subtypes of autism spectrum disorders associated with different factors?}}. {Acta psychiatrica Scandinavica}. 2013 Jul;128(1):1-2.
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7. Dickson PE, Corkill B, McKimm E, Miller MM, Calton MA, Goldowitz D, Blaha CD, Mittleman G. {{Effects of stimulus salience on touchscreen serial reversal learning in a mouse model of fragile X syndrome}}. {Behavioural brain research}. 2013 Jun 4.
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability in males and the most common genetic cause of autism. Although executive dysfunction is consistently found in humans with FXS, evidence of executive dysfunction in Fmr1 KO mice, a mouse model of FXS, has been inconsistent. One possible explanation for this is that executive dysfunction in Fmr1 KO mice, similar to humans with FXS, is only evident when cognitive demands are high. Using touchscreen operant conditioning chambers, male Fmr1 KO mice and their male wildtype littermates were tested on the acquisition of a pairwise visual discrimination followed by four serial reversals of the response rule. We assessed reversal learning performance under two different conditions. In the first, the correct stimulus was salient and the incorrect stimulus was non-salient. In the second and more challenging condition, the incorrect stimulus was salient and the correct stimulus was non-salient; this increased cognitive load by introducing conflict between sensory-driven (i.e., bottom-up) and task-dependent (i.e., top-down) signals. Fmr1 KOs displayed two distinct impairments relative to wildtype littermates. First, Fmr1 KOs committed significantly more learning-type errors during the second reversal stage, but only under high cognitive load. Second, during the first reversal stage, Fmr1 KOs committed significantly more attempts to collect a reward during the timeout following an incorrect response. These findings indicate that Fmr1 KO mice display executive dysfunction that, in some cases, is only evident under high cognitive load.
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8. Doyle-Thomas KA, Goldberg J, Szatmari P, Hall GB. {{Neurofunctional underpinnings of audiovisual emotion processing in teens with autism spectrum disorders}}. {Frontiers in psychiatry / Frontiers Research Foundation}. 2013;4:48.
Despite successful performance on some audiovisual emotion tasks, hypoactivity has been observed in frontal and temporal integration cortices in individuals with autism spectrum disorders (ASD). Little is understood about the neurofunctional network underlying this ability in individuals with ASD. Research suggests that there may be processing biases in individuals with ASD, based on their ability to obtain meaningful information from the face and/or the voice. This functional magnetic resonance imaging study examined brain activity in teens with ASD (n = 18) and typically developing controls (n = 16) during audiovisual and unimodal emotion processing. Teens with ASD had a significantly lower accuracy when matching an emotional face to an emotion label. However, no differences in accuracy were observed between groups when matching an emotional voice or face-voice pair to an emotion label. In both groups brain activity during audiovisual emotion matching differed significantly from activity during unimodal emotion matching. Between-group analyses of audiovisual processing revealed significantly greater activation in teens with ASD in a parietofrontal network believed to be implicated in attention, goal-directed behaviors, and semantic processing. In contrast, controls showed greater activity in frontal and temporal association cortices during this task. These results suggest that in the absence of engaging integrative emotional networks during audiovisual emotion matching, teens with ASD may have recruited the parietofrontal network as an alternate compensatory system.
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9. Fortea Sevilla MS, Escandell Bermudez MO, Castro Sanchez JJ. {{[Estimated prevalence of autism spectrum disorders in the Canary Islands.]}}. {Anales de pediatria (Barcelona, Spain : 2003)}. 2013 Jun 6.
AIMS: To make an initial estimate of the prevalence of autism spectrum disorders (ASDs) among children in the province of Las Palmas (Spain). MATERIAL AND METHODS: Descriptive study was conducted on 1,796 children between the ages of 18 and 30 months of age, all part of the Child Health Surveillance of the Canary Islands, more specifically the province of Las Palmas, with a population of 1,090,605. The parents of children involved completed the Spanish version of the Modified Checklist for Autism in Toddlers (M-CHAT/ES) in the paediatric clinic. The positive cases were then diagnosed by experts by means of the Autism Diagnostic Interview-Revised (ADIR) and the Autism Diagnostic Observation Schedule (ADOS). RESULTS: A 0.61% prevalence of ASDs was determined, similar to that reported in previous studies using the same tools. The ratio was six girls for every five boys. This was contrary to the results of previous studies which suggested more boys than girls were affected. This may have been due to the sample size, which will have to be increased in future studies to confirm this outcome. CONCLUSIONS: An increased sample size and also spread to other age ranges should be used in order to obtain a more reliable estimate of prevalence. As regards the gender ratio, this could be a result of the small size of the sample researched, and should therefore be confirmed by further studies.
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10. Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G. {{Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits}}. {European journal of human genetics : EJHG}. 2013 Jun 12.
Williams Beuren syndrome (WBS) is a multisystemic disorder caused by a hemizygous deletion of 1.5 Mb on chromosome 7q11.23 spanning 28 genes. A few patients with larger and smaller WBS deletion have been reported. They show clinical features that vary between isolated SVAS to the full spectrum of WBS phenotype, associated with epilepsy or autism spectrum behavior. Here we describe four patients with atypical WBS 7q11.23 deletions. Two carry approximately 3.5 Mb larger deletion towards the telomere that includes Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxigenase activation protein gamma (YWHAG) genes. Other two carry a shorter deletion of approximately 1.2 Mb at centromeric side that excludes the distal WBS genes BAZ1B and FZD9. Along with previously reported cases, genotype-phenotype correlation in the patients described here further suggests that haploinsufficiency of HIP1 and YWHAG might cause the severe neurological and neuropsychological deficits including epilepsy and autistic traits, and that the preservation of BAZ1B and FZD9 genes may be related to mild facial features and moderate neuropsychological deficits. This report highlights the importance to characterize additional patients with 7q11.23 atypical deletions comparing neuropsychological and clinical features between these individuals to shed light on the pathogenic role of genes within and flanking the WBS region.European Journal of Human Genetics advance online publication, 12 June 2013; doi:10.1038/ejhg.2013.101.
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11. Gannon WT, Martinez JE, Anderson SJ, Swingle HM. {{Cancer and copy number variants in an autism diagnostic clinic}}. {J Dev Behav Pediatr}. 2013 Jun;34(5):379-81.
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12. Greimel E, Bartling J, Dunkel J, Bruckl M, Deimel W, Remschmidt H, Kamp-Becker I, Schulte-Korne G. {{The temporal dynamics of coherent motion processing in autism spectrum disorder: Evidence for a deficit in the dorsal pathway}}. {Behavioural brain research}. 2013 Jun 6.
Individuals with autism spectrum disorder (ASD) show impairments in processing coherent motion which have been proposed to be linked to a general deficit in the dorsal visual pathway. However, few studies have investigated the neural mechanisms underlying coherent motion processing in ASD. Thus, the aim of this study was to further test the hypothesis of a dorsal pathway deficit in ASD using visual evoked potentials (VEPs). 16 children and adolescents with ASD and 12 typically developing controls were examined with VEPs elicited by a random dot kinematogram. After an initial experimental sequence, where subjects were presented randomly moving dots, a fraction of the dots moved coherently (dependent on the level of coherence, 20%, 40%, or 60% of the dots) to the left or right side. Subjects were asked to detect the direction of coherent motion via button press. On the behavioural level, no significant group differences emerged. On the neural level, coherently moving dots elicited a N200 followed by a late positive potential (P400). ASD subjects exhibited a reduced N200 amplitude compared to controls. Moreover, in the ASD group, a trend for a negative relationship between N200 amplitude and a measure of autistic pathology was revealed. The present study provides strong support of a dorsal stream deficiency in the disorder and renders alternative explanations for impaired coherent motion processing in ASD less likely. Together with findings from related research fields, our data indicates that deviances in the N200 during coherent motion perception might be fundamental to ASD.
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13. Hodgetts S, Savage A, McConnell D. {{Experience and outcomes of stepping stones triple P for families of children with autism}}. {Research in developmental disabilities}. 2013 Jun 6;34(9):2572-85.
This study investigated the experience and perceived outcomes of a behavioural family intervention, standard stepping stones triple P (SSTP), for parents of children with autism. An indepth, prospective, mixed-methods, multiple case-study design was employed. Parent participants and SSTP practitioners took part. Participation in SSTP was consistently associated with improved parental self-efficacy, and was also associated with improved parental psychological well-being and decreased perceived need for behavioural services for some families. Three key themes emerged from the qualitative interview data, reflecting changes attributed to participation in SSTP: (1) changes in the « attribution of cause » of misbehaviour, (2) « Who’s the boss? » reflecting a change to parents feeling more in charge of their child’s behaviour, daily routines and choices, and (3) « Rewarding is rewarding! » reflecting appreciation of a positive approach to behaviour management. Practitioners discussed their impressions of appropriate participants, timing, structure, and session preferences for SSTP, and implications related to the professional qualifications of practitioners delivering SSTP. Clinical implications for the use of SSTP with families of children with autism are discussed.
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14. Holt S, Yuill N. {{Facilitating Other-Awareness in Low-Functioning Children with Autism and Typically-Developing Preschoolers Using Dual-Control Technology}}. {J Autism Dev Disord}. 2013 Jun 12.
Children with autism are said to lack other-awareness, which restricts their opportunities for peer collaboration. We assessed other-awareness in non-verbal children with autism and typically-developing preschoolers collaborating on a shared computerised picture-sorting task. The studies compared a novel interface, designed to support other-awareness, with a standard interface, with adult and peer partners. The autism group showed no active other-awareness using the standard interface, but revealed clear active other-awareness using the supportive interface. Both groups displayed more other-awareness with the technology than without and also when collaborating with a peer than with an adult partner. We argue that children with autism possess latent abilities to coordinate social interaction that only become evident with appropriate support.
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15. Hsieh E, Oh SS, Chellappa P, Szeftel R, Jones HD. {{Management of Autism in the Adult Intensive Care Unit}}. {Journal of intensive care medicine}. 2012 Dec 20.
Autism comprises a growing segment of the population and can be a management challenge in the intensive care unit (ICU). We present the case of a 22-year-old male with severe autism and intellectual disorder who developed respiratory failure and required a prolonged ICU course. This patient exhibited severe distress, aggression, and self-injurious behavior. Management challenges included sedation, weaning from sedation, and liberation from mechanical ventilation. Success was achieved with a multispecialty team and by tailoring the environment and interactions to the patient’s known preferences. The use of dexmedetomidine to wean high-dose benzodiazepines and opiates also permitted successful liberation from mechanical ventilation.
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16. Hudry K, Chandler S, Bedford R, Pasco G, Gliga T, Elsabbagh M, Johnson MH, Charman T. {{Early Language Profiles in Infants at High-Risk for Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2013 Jun 8.
Many preschoolers with autism spectrum disorders (ASD) present relative lack of receptive advantage over concurrent expressive language. Such profile emergence was investigated longitudinally in 54 infants at high-risk (HR) for ASD and 50 low-risk controls, with three language measures taken across four visits (around 7, 14, 24, 38 months). HR infants presented three outcome subgroups: ASD, other atypicality, and typical development. Reduced receptive vocabulary advantage was observed in HR infants by 14 months, but was maintained to 24 months only in ASD/other atypicality outcome subgroups while typically-developing HR infants regained a more normative profile. Few group differences appeared on a direct assessment of language and parent-reported functional communication. Processes of early development toward ASD outcome and in intermediate phenotypes are discussed.
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17. Hwang YS, Weng SF, Cho CY, Tsai WH. {{Higher prevalence of autism in Taiwanese children born prematurely: A nationwide population-based study}}. {Research in developmental disabilities}. 2013 Jun 6;34(9):2462-8.
The reported prevalence of autism in preterm and full-term children varies partially because of small sample sizes. Moreover, little is known about the specific factors that contribute to the risk of autism in preterm children. We aimed to compare the prevalence of autism in preterm and full-term children and to identify neonatal risk factors for autism in preterm children using a large national health system database. We analyzed data from 1078 early preterm (<28 weeks of gestation or birth weight<1000g), 28,947 later preterm (28-36 weeks), and 1,104,071 full-term (>/=37 weeks) children who were 8-11 years old in 2009. The descending order of prevalence was early preterm (2.2%), later preterm (1.3%), and full-term (0.6%). The prevalence of autism was approximately 2-4 times higher in preterm children than in children born at full-term. The male-female ratio (4:1) in preterm and full-term children was not significantly different. Most of the children were first diagnosed with autism between 3 and 6 years old. Preterm children with autism were not diagnosed earlier than were full-term children. Regression analysis showed that male gender, a very low birth weight, and neonatal cerebral dysfunction were risk factors for autism in the preterm group. We conclude that autism is more prevalent in preterm children. Preventing extremely preterm birth and significant early brain insults may be helpful in reducing the risk of autism in preterm children.
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18. Kanne SM, Mazurek MO, Sikora D, Bellando J, Branum-Martin L, Handen B, Katz T, Freedman B, Powell MP, Warren Z. {{The Autism Impact Measure (AIM): Initial Development of a New Tool for Treatment Outcome Measurement}}. {J Autism Dev Disord}. 2013 Jun 8.
The current study describes the development and psychometric properties of a new measure targeting sensitivity to change of core autism spectrum disorder (ASD) symptoms, the Autism Impact Measure (AIM). The AIM uses a 2-week recall period with items rated on two corresponding 5-point scales (frequency and impact). Psychometric properties were examined using a large sample (n = 440) of children with ASD enrolled in the Autism Treatment Network. The exploratory factor analysis indicated four factors and resulted in a 25-item questionnaire with excellent overall model fit. Test-retest reliability, cross-informant reliability, and convergent validity with other measures of ASD symptoms and overall functioning were strong. The AIM is a reliable and valid measure of frequency and impact of core ASD symptoms.
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19. Kim JE, Shin MS, Seo TB, Ji ES, Baek SS, Lee SJ, Park JK, Kim CJ. {{Treadmill exercise ameliorates motor disturbance through inhibition of apoptosis in the cerebellum of valproic acid-induced autistic rat pups}}. {Molecular medicine reports}. 2013 Jun 12.
Autism is a neurological disorder that occurs during childhood and is characterized by impairments in social interaction and communication, as well as restricted and repetitive behaviors. Abnormalities of the cerebellum in autism include Purkinje cell loss and motor disturbance. In the present study, we evaluated the effect of treadmill exercise on motor coordination and balance in correlation with reelin expression and the rate of apoptosis in the cerebellum of autistic rat pups. For the induction of the autism-like animal models, 400 mg/kg valproic acid was subcutaneously injected into rat pups on postnatal day 14. Rat pups in the exercise groups were forced to run on a treadmill for 30 min, once a day, five times a week for 4 weeks, starting on postnatal day 28. Motor coordination and balance, as measured using the rotarod test and vertical pole test, were affected by the induction of autism. By contrast, treadmill exercise ameliorated motor dysfunction in the autistic rat pups. The expression levels of reelin, GAD67 and cyclin D1 in the cerebellum of the autistic rat pups were decreased, while the expression levels of these molecules were increased in autistic rat pups who engaged in treadmill exercise. In the cerebellum of the autistic rat pups, Bcl-2 expression was decreased and Bax expression was increased. By contrast, treadmill exercise enhanced Bcl-2 expression and suppressed Bax expression. The therapeutic effect of treadmill exercise on motor deficits may be due to the reelin-mediated anti-apoptotic effect on cerebellar Purkinje neurons.
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20. Malow BA, Adkins KW, Reynolds A, Weiss SK, Loh A, Fawkes D, Katz T, Goldman SE, Madduri N, Hundley R, Clemons T. {{Parent-Based Sleep Education for Children with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2013 Jun 11.
This study provided sleep education to parents of children with autism spectrum disorder (ASD) to determine whether an individual or group format was more effective in improving sleep and aspects of daytime behavior and family functioning. Eighty children, ages 2-10 years, with ASD and sleep onset delay completed the study. Actigraphy and parent questionnaires were collected at baseline and 1 month after treatment. Mode of education did not affect outcomes. Sleep latency, insomnia subscales on the Children’s Sleep Habits Questionnaire, and other outcomes related to child and family functioning improved with treatment. Parent-based sleep education, delivered in relatively few sessions, was associated with improved sleep onset delay in children with ASD. Group versus individualized education did not affect outcome.
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21. Martin J, Hamshere ML, O’Donovan MC, Rutter M, Thapar A. {{Factor Structure of Autistic Traits in Children with ADHD}}. {J Autism Dev Disord}. 2013 Jun 9.
Attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) often co-occur. Factor analyses of ASD traits in children with and without ASD indicate the presence of social and restrictive-repetitive behaviour (RRB) factors. This study used exploratory factor analyses to determine the structure of ASD traits (assessed using the Social Communication Questionnaire) in children with ADHD. Distinct factors were observed for ‘social’ and ‘rigidity’ traits, corresponding to previous factor analyses in clinical ASD and population samples. This indicates that the split between social-communicative and RRB dimensions is unaffected by ADHD in children. Moreover, the study also finds that there is some overlap across hyperactive-impulsive symptoms and RRB traits in children with ADHD, which merits further investigation.
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22. Massand E, Bowler DM. {{Atypical Neurophysiology Underlying Episodic and Semantic Memory in Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2013 Jun 11.
Individuals with autism spectrum disorder (ASD) show atypicalities in episodic memory (Boucher et al. in Psychological Bulletin, 138 (3), 458-496, 2012). We asked participants to recall the colours of a set of studied line drawings (episodic judgement), or to recognize line drawings alone (semantic judgement). Cycowicz et al. (Journal of Experimental Child Psychology, 65, 171-237, 2001) found early (300 ms onset) posterior old-new event-related potential effects for semantic judgements in typically developing (TD) individuals, and occipitally focused negativity (800 ms onset) for episodic judgements. Our results replicated findings in TD individuals and demonstrate attenuated early old-new effects in ASD. Late posterior negativity was present in the ASD group, but was not specific to this time window. This non-specificity may contribute to the atypical episodic memory judgements characteristic of individuals with ASD.
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23. Matson JL, Hattier MA, Belva B, Matson ML. {{Pica in persons with developmental disabilities: Approaches to treatment}}. {Research in developmental disabilities}. 2013 Jun 6;34(9):2564-71.
Pica is a very serious problem in which an individual ingests substances without nutrition value, such as paper and paint. As this behavior is often life-threatening resulting in surgery, pica has received attention from researchers for several decades. During that time, a number of interventions have been devised, such as behavioral methods (e.g., aversive stimuli, overcorrection, time-out, reinforcement) and biological interventions (e.g., pharmacotherapy, nutritional supplements). This paper is a broad review of the research on treatment studies for this problem, with a focus on persons with autism and/or intellectual disability (ID), which constitutes almost all of the published treatment papers. In addition, strengths and weaknesses of different pica treatments are discussed. Upon review, applied behavior analysis (ABA) was found to have the most robust empirical support to treat this behavior. Most clinicians are drifting away from aversive techniques and relying on more positive procedures to guide their treatment plans. The implications of current status and future directions for research are also addressed.
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24. Matson JL, Rieske RD, Williams LW. {{The relationship between autism spectrum disorders and attention-deficit/hyperactivity disorder: An overview}}. {Research in developmental disabilities}. 2013 Jun 6;34(9):2475-84.
The autism spectrum has become a highly studied topic, perhaps the most researched of all developmental disorders. A host of related topics are being studied, with one of the most common being comorbidity of autism with other conditions such as epilepsy, sleep, and anxiety disorders. One of the most prevalent of these comorbid conditions is attention-deficit/hyperactivity disorder (AD/HD). A considerable amount of research has appeared on this topic with respect to symptom expression, prevalence of overlap, type of symptom overlap, and the effect of these two conditions co-occurrence on other symptoms and disorders. Given the substantial data base that has accrued, review and synthesis of these data are in order. This is the purpose of the present manuscript.
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25. Moseley RL, Pulvermuller F, Mohr B, Lombardo MV, Baron-Cohen S, Shtyrov Y. {{Brain Routes for Reading in Adults with and without Autism: EMEG Evidence}}. {J Autism Dev Disord}. 2013 Jun 9.
Reading utilises at least two neural pathways. The temporal lexical route visually maps whole words to their lexical entries, whilst the nonlexical route decodes words phonologically via parietal cortex. Readers typically employ the lexical route for familiar words, but poor comprehension plus precocity at mechanically ‘sounding out’ words suggests that differences might exist in autism. Combined MEG/EEG recordings of adults with autistic spectrum conditions (ASC) and controls while reading revealed preferential recruitment of temporal areas in controls and additional parietal recruitment in ASC. Furthermore, a lack of differences between semantic word categories was consistent with previous suggestion that people with ASC may lack a ‘default’ lexical-semantic processing mode. These results are discussed with reference to dual-route models of reading.
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26. Noh HJ, Ponting CP, Boulding HC, Meader S, Betancur C, Buxbaum JD, Pinto D, Marshall CR, Lionel AC, Scherer SW, Webber C. {{Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism}}. {PLoS genetics}. 2013 Jun;9(6):e1003523.
Autism Spectrum Disorders (ASD) are highly heritable and characterised by impairments in social interaction and communication, and restricted and repetitive behaviours. Considering four sets of de novo copy number variants (CNVs) identified in 181 individuals with autism and exploiting mouse functional genomics and known protein-protein interactions, we identified a large and significantly interconnected interaction network. This network contains 187 genes affected by CNVs drawn from 45% of the patients we considered and 22 genes previously implicated in ASD, of which 192 form a single interconnected cluster. On average, those patients with copy number changed genes from this network possess changes in 3 network genes, suggesting that epistasis mediated through the network is extensive. Correspondingly, genes that are highly connected within the network, and thus whose copy number change is predicted by the network to be more phenotypically consequential, are significantly enriched among patients that possess only a single ASD-associated network copy number changed gene (p = 0.002). Strikingly, deleted or disrupted genes from the network are significantly enriched in GO-annotated positive regulators (2.3-fold enrichment, corrected p = 2×10(-5)), whereas duplicated genes are significantly enriched in GO-annotated negative regulators (2.2-fold enrichment, corrected p = 0.005). The direction of copy change is highly informative in the context of the network, providing the means through which perturbations arising from distinct deletions or duplications can yield a common outcome. These findings reveal an extensive ASD-associated molecular network, whose topology indicates ASD-relevant mutational deleteriousness and that mechanistically details how convergent aetiologies can result extensively from CNVs affecting pathways causally implicated in ASD.
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27. Orlievsky D, Cukier S. {{Language, writing, and activity disorder in the autistic spectrum}}. {Frontiers in integrative neuroscience}. 2013;7:42.
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28. Pino-Lopez M, Romero-Ayuso DM. {{[Parental occupational exposures and autism spectrum disorder in children]}}. {Revista espanola de salud publica}. 2013 Feb;87(1):73-85.
Background: Studies of siblings and twins suggest a genetic component of autism that does not fully explain its current increase. The aim is to investigate whether environmental factors such as exposure to occupational hazards (night work, handling of solvents and/or electromagnetic fields) increases the likelihood of autism spectrum disorders (ASD) in children. Methods: Observational case control study by analyzing the records of 206 children (age between 16 and 36 months) evaluated in the Early Intervention Service of Ciudad Real (70 with ASD and 136 unaffected children). To assess the risk of ASD associated with night work, handling of solvents and/or electromagnetic fields, odds ratio (OR) were calculated with 95% confidence intervals (CI). Results: The risk of ASD is multiplied by 2.22 when one parent works in the studied occupations (OR=2.22, 95% CI=1.42-3.48), highlighting work with solvents (OR=2.81, 95% CI=1.28-6.17) and night work (OR=2.18, 95% CI=1.21-3.93). It is multiplied by 3 if the mother’s job is one of these occupations (OR=3, 95% CI=1.44-6.26), standing out night work (OR=3.47, 95% CI=1.39-8.63), and handling of solvents (OR=2.88, 95% CI=1.28-6.17); whereas it is multiplied by 1.94 if the father works in these occupations (OR=1.94, 95% CI=1.07-3.53), standing out handling of solvents (OR=2.81, 95% CI=1.01-7.86). A positive association between the educational level of parents and ASD is found. Conclusions: The results show a significant relationship between the exposure of the parents to occupational hazards and ASD in the children, suggesting the involvement of genetic alterations caused by environmental factors in the origin of the disorder.
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29. Ruskin DN, Svedova J, Cote JL, Sandau U, Rho JM, Kawamura M, Jr., Boison D, Masino SA. {{Ketogenic Diet Improves Core Symptoms of Autism in BTBR Mice}}. {PLoS One}. 2013;8(6):e65021.
AUTISM SPECTRUM DISORDERS SHARE THREE CORE SYMPTOMS: impaired sociability, repetitive behaviors and communication deficits. Incidence is rising, and current treatments are inadequate. Seizures are a common comorbidity, and since the 1920’s a high-fat, low-carbohydrate ketogenic diet has been used to treat epilepsy. Evidence suggests the ketogenic diet and analogous metabolic approaches may benefit diverse neurological disorders. Here we show that a ketogenic diet improves autistic behaviors in the BTBR mouse. Juvenile BTBR mice were fed standard or ketogenic diet for three weeks and tested for sociability, self-directed repetitive behavior, and communication. In separate experiments, spontaneous intrahippocampal EEGs and tests of seizure susceptibility (6 Hz corneal stimulation, flurothyl, SKF83822, pentylenetetrazole) were compared between BTBR and control (C57Bl/6) mice. Ketogenic diet-fed BTBR mice showed increased sociability in a three-chamber test, decreased self-directed repetitive behavior, and improved social communication of a food preference. Although seizures are a common comorbidity with autism, BTBR mice fed a standard diet exhibit neither spontaneous seizures nor abnormal EEG, and have increased seizure susceptibility in just one of four tests. Thus, behavioral improvements are dissociable from any antiseizure effect. Our results suggest that a ketogenic diet improves multiple autistic behaviors in the BTBR mouse model. Therefore, ketogenic diets or analogous metabolic strategies may offer novel opportunities to improve core behavioral symptoms of autism spectrum disorders.
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30. Turan F, Okcun Akcamus MC. {{[An Investigation of the Imitation Skills in Children with Autism Spectrum Disorder and their Association with Receptive-Expressive Language Development]}}. {Turk psikiyatri dergisi = Turkish journal of psychiatry}. 2013 Summer;24(2):111-6.
AIMS: This study aimed to compare imitation skills in children with autism spectrum disorder, and age-matched typically developing children and children with developmental delay, as well as to examine the association between imitation skills, and receptive and expressive language development in children with autism spectrum disorder. MATERIALS AND METHODS: Imitation skills in children with autism spectrum disorder (n=18), and age-matched children with developmental delay (n=15) and typically developing children (n= 16) were assessed using the Motor Imitation Scale and Imitation Battery, and the differences in mean imitation scores between the groups were examined. Receptive language and expressive language development in the children with autism spectrum disorder were assessed using the Turkish Communicative Development Inventory (TCDI), and their association with imitation scores was explored. RESULTS: The children with autism spectrum disorder had significantly lower imitation scores than the children with developmental delay and typically developing children; however, there wasn’t a significant difference in imitation scores between the children with developmental delay and typically developing children. A significant association between imitation scores, and receptive and expressive language development was observed in the children with autism spectrum disorder. CONCLUSION: The present findings indicate that deficient imitation skills are a distinctive feature of children with autism spectrum disorder and that imitation skills play a crucial role in children’s language development.
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31. Valla JM, Maendel JW, Ganzel BL, Barsky AR, Belmonte MK. {{Autistic trait interactions underlie sex-dependent facial recognition abilities in the normal population}}. {Frontiers in psychology}. 2013;4:286.
Autistic face processing difficulties are either uniquely social or due to a piecemeal cognitive « style. » Co-morbidity of social deficits and piecemeal cognition in autism makes teasing apart these accounts difficult. These traits vary normally, and are more separable in the general population, suggesting another way to compare accounts. Participants completed the Autism Quotient survey of autistic traits, and one of three face recognition tests: full-face, eyes-only, or mouth-only. Social traits predicted performance in the full-face condition in both sexes. Eyes-only males’ performance was predicted by a social x cognitive trait interaction: attention to detail boosted face recognition in males with few social traits, but hindered performance in those reporting many social traits. This suggests social/non-social Autism Spectrum Conditions (ASC) trait interactions at the behavioral level. In the presence of few ASC-like difficulties in social reciprocity, an ASC-like attention to detail may confer advantages on typical males’ face recognition skills. On the other hand, when attention to detail co-occurs with difficulties in social reciprocity, a detailed focus may exacerbate such already present social difficulties, as is thought to occur in autism.
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32. Van de Cruys S, de-Wit L, Evers K, Boets B, Wagemans J. {{Weak priors versus overfitting of predictions in autism: Reply to Pellicano and Burr (TICS, 2012)}}. {i-Perception}. 2013;4(2):95-7.
Pellicano and Burr (2012) argue that a Bayesian framework can help us understand the perceptual peculiarities in autism. We agree, but we think that their assumption of uniformly flat or equivocal priors in autism is not empirically supported. Moreover, we argue that any full account has to take into consideration not only the nature of priors in autism, but also how these priors are constructed or learned. We argue that predictive coding provides a more constrained framework that very naturally explains how priors are constructed in autism leading to strong, but overfitted, and non-generalizable predictions.
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33. Wang JY, Hessl D, Schneider A, Tassone F, Hagerman RJ, Rivera SM. {{Fragile X-Associated Tremor/Ataxia Syndrome: Influence of the FMR1 Gene on Motor Fiber Tracts in Males With Normal and Premutation Alleles}}. {JAMA neurology}. 2013 Jun 10:1-8.
IMPORTANCE Individuals with the fragile X premutation express expanded CGG repeats (repeats 55-200) in the FMR1 gene and elevated FMR1 messenger RNA (mRNA) levels, both of which may underlie the occurrence of the late-onset neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). Because the core feature of FXTAS is motor impairment, determining the influence of FMR1 mRNA levels on structural connectivity of motor fiber tracts is critical for a better understanding of the pathologic features of FXTAS. OBJECTIVE To examine the associations of CGG repeat and FMR1 mRNA with motor-related fiber tracts in males with premutation alleles. DESIGN AND SETTING A case-control study conducted at the University of California, Davis, from April 1, 2008, through August 31, 2009. All data were collected masked to the carrier status of the FMR1 gene. PARTICIPANTS Thirty-six male premutation carriers with FXTAS and 26 male premutation carriers without FXTAS were recruited through their family relationships with children affected by fragile X syndrome. The controls were 34 unaffected family members and healthy volunteers from the local community. MAIN OUTCOMES AND MEASURES The CGG repeat lengths and FMR1 mRNA expression levels in peripheral blood lymphocytes, motor functioning, and white matter structural integrity that were estimated using diffusion tensor imaging. After data collection, we selected 4 motor tracts to reconstruct using diffusion tensor tractography, namely, the middle and superior cerebellar peduncles, descending motor tracts (containing the corticospinal, corticobulbar, and corticopontine tracts), and the anterior body of the corpus callosum. RESULTS All fiber tracts exhibited weaker structural connectivity in the FXTAS group (decreased 5%-53% from controls, P </= .02). Genetic imaging correlation analysis revealed negative associations of CGG repeat length and FMR1 mRNA with connectivity strength of the superior cerebellar peduncles in both premutation groups (partial r2 = 0.23-0.33, P </= .004). In addition, the measurements from the corpus callosum and superior cerebellar peduncles revealed a high correlation with motor functioning in all 3 groups (r between partial least square predicted and actual test scores = 0.41-0.56, P </= .04). CONCLUSIONS AND RELEVANCE Distinct pathophysiologic processes may underlie the structural impairment of the motor tracts in FXTAS. Although both the corpus callosum and superior cerebellar peduncles were of great importance to motor functioning, only the superior cerebellar peduncles exhibited an association with the elevated RNA levels in the blood of fragile X premutation carriers.
