1. Argyropoulos A, Gilby KL, Hill-Yardin EL. {{Studying autism in rodent models: reconciling endophenotypes with comorbidities}}. {Front Hum Neurosci};2013;7:417.
Autism spectrum disorder (ASD) patients commonly exhibit a variety of comorbid traits including seizures, anxiety, aggressive behavior, gastrointestinal problems, motor deficits, abnormal sensory processing, and sleep disturbances for which the cause is unknown. These features impact negatively on daily life and can exaggerate the effects of the core diagnostic traits (social communication deficits and repetitive behaviors). Studying endophenotypes relevant to both core and comorbid features of ASD in rodent models can provide insight into biological mechanisms underlying these disorders. Here we review the characterization of endophenotypes in a selection of environmental, genetic, and behavioral rodent models of ASD. In addition to exhibiting core ASD-like behaviors, each of these animal models display one or more endophenotypes relevant to comorbid features including altered sensory processing, seizure susceptibility, anxiety-like behavior, and disturbed motor functions, suggesting that these traits are indicators of altered biological pathways in ASD. However, the study of behaviors paralleling comorbid traits in animal models of ASD is an emerging field and further research is needed to assess altered gastrointestinal function, aggression, and disorders of sleep onset across models. Future studies should include investigation of these endophenotypes in order to advance our understanding of the etiology of this complex disorder.
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2. Arkush L, Smith-Collins AP, Fiorentini C, Skuse DH. {{Recognition of Face and Non-Face Stimuli in Autistic Spectrum Disorder}}. {Autism Res};2013 (Jul 25)
The ability to remember faces is critical for the development of social competence. From childhood to adulthood, we acquire a high level of expertise in the recognition of facial images, and neural processes become dedicated to sustaining competence. Many people with autism spectrum disorder (ASD) have poor face recognition memory; changes in hairstyle or other non-facial features in an otherwise familiar person affect their recollection skills. The observation implies that they may not use the configuration of the inner face to achieve memory competence, but bolster performance in other ways. We aimed to test this hypothesis by comparing the performance of a group of high-functioning unmedicated adolescents with ASD and a matched control group on a « surprise » face recognition memory task. We compared their memory for unfamiliar faces with their memory for images of houses. To evaluate the role that is played by peripheral cues in assisting recognition memory, we cropped both sets of pictures, retaining only the most salient central features. ASD adolescents had poorer recognition memory for faces than typical controls, but their recognition memory for houses was unimpaired. Cropping images of faces did not disproportionately influence their recall accuracy, relative to controls. House recognition skills (cropped and uncropped) were similar in both groups. In the ASD group only, performance on both sets of task was closely correlated, implying that memory for faces and other complex pictorial stimuli is achieved by domain-general (non-dedicated) cognitive mechanisms. Adolescents with ASD apparently do not use domain-specialized processing of inner facial cues to support face recognition memory. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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3. Bartl-Pokorny KD, Marschik PB, Sigafoos J, Tager-Flusberg H, Kaufmann WE, Grossmann T, Einspieler C. {{Early socio-communicative forms and functions in typical Rett syndrome}}. {Res Dev Disabil};2013 (Jul 23);34(10):3133-3138.
Rett syndrome (RTT) is a severe neurological disorder characterized by a developmental regression in motor and speech-language domains. There is, however, limited research on socio-communicative development of affected children before the onset of regression. We analyzed audio-video recordings made by parents of six 9- to 12-month old girls later diagnosed with typical RTT, applying the Inventory of Potential Communicative Acts (IPCA) to identify early communicative forms and functions. Each girl used at least one communicative form (e.g., body movement, eye gaze, or vocalizations) to gain attention and answer, but none were observed to make choices or request information. Varying numbers of children were observed to perform other communicative functions according to the IPCA including social convention, rejecting or requesting an object. Non-verbal forms (e.g., reaching, moving closer, eye contact, smiling) were more common than non-linguistic verbal forms (e.g., unspecified vocalizations, pleasure vocalizations, crying). (Pre-)linguistic verbal forms (e.g., canonical or variegated babbling, proto-words) were not used for communicative purposes. These data suggest that atypical developmental patterns in the socio-communicative domain are evident prior to regression in young individuals later diagnosed with RTT.
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4. Beail N, Mitchell K, Vlissides N, Jackson T. {{Concordance of the Mini-Psychiatric Assessment Schedule for Adults who have Developmental Disabilities (PASADD) and the Brief Symptom Inventory}}. {J Intellect Disabil Res};2013 (Jul 24)
BACKGROUND: When assessing the mental health needs of people who have intellectual disabilities (ID) it is important to use measures that have good validity and reliability to ensure accurate case recognition and reliable and valid outcome data. Measures developed for this purpose tend to be self-report or by informant report. Multi-trait screening tools developed to identify psychological and psychiatric disorders in people who have ID tend to be informant based. Research examining the concordance of different tools has found this to be high but not for specific diagnoses. Multi-trait self-report measures are fewer and have not been compared with informant approaches. This study aims to examine the concordance between two multi-trait measures of mental health used with people who have ID. One administered to informants [the Mini-Psychiatric Assessment Schedule for Adults who have Developmental Disabilities (PASADD)] and one self-report [Brief Symptom Inventory (BSI)] METHOD: The measures were completed with 109 adults who have ID and with someone who knows them well. RESULTS: Level of agreement across the four scales in common was good for three. The poorest convergence was for the obsessive compulsive disorder sub-scales. However, a high level of concordance was found between most sub-scales. CONCLUSION: The BSI and the PASSAD seem to be good indicators of psychiatric problems and psychological distress; however, similar to other multi-trait measures they did not demonstrate appropriate specificity for particular disorders.
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5. Brincker M, Torres EB. {{Noise from the periphery in autism}}. {Front Integr Neurosci};2013;7:34.
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6. Buchovecky CM, Turley SD, Brown HM, Kyle SM, McDonald JG, Liu B, Pieper AA, Huang W, Katz DM, Russell DW, Shendure J, Justice MJ. {{A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome}}. {Nat Genet};2013 (Jul 28)
Mutations in MECP2, encoding methyl CpG-binding protein 2, cause Rett syndrome, the most severe autism spectrum disorder. Re-expressing Mecp2 in symptomatic Mecp2-null mice markedly improves function and longevity, providing hope that therapeutic intervention is possible in humans. To identify pathways in disease pathology for therapeutic intervention, we carried out a dominant N-ethyl-N-nitrosourea (ENU) mutagenesis suppressor screen in Mecp2-null mice and isolated five suppressors that ameliorate the symptoms of Mecp2 loss. We show that a stop codon mutation in Sqle, encoding squalene epoxidase, a rate-limiting enzyme in cholesterol biosynthesis, underlies suppression in one line. Subsequently, we also show that lipid metabolism is perturbed in the brains and livers of Mecp2-null male mice. Consistently, statin drugs improve systemic perturbations of lipid metabolism, alleviate motor symptoms and confer increased longevity in Mecp2 mutant mice. Our genetic screen therefore points to cholesterol homeostasis as a potential target for the treatment of patients with Rett syndrome.
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7. Cauda F, Costa T, Palermo S, D’Agata F, Diano M, Bianco F, Duca S, Keller R. {{Concordance of white matter and gray matter abnormalities in autism spectrum disorders: A voxel-based meta-analysis study}}. {Hum Brain Mapp};2013 (Jul 26)
There are at least two fundamental unanswered questions in the literature on autism spectrum disorders (ASD): Are abnormalities in white (WM) and gray matter (GM) consistent with one another? Are WM morphometric alterations consistent with alterations in the GM of regions connected by these abnormal WM bundles and vice versa? The aim of this work is to bridge this gap. After selecting voxel-based morphometry and diffusion tensor imaging studies comparing autistic and normally developing groups of subjects, we conducted an activation likelihood estimation (ALE) meta-analysis to estimate consistent brain alterations in ASD. Multidimensional scaling was used to test the similarity of the results. The ALE results were then analyzed to identify the regions of concordance between GM and WM areas. We found statistically significant topological relationships between GM and WM abnormalities in ASD. The most numerous were negative concordances, found bilaterally but with a higher prevalence in the right hemisphere. Positive concordances were found in the left hemisphere. Discordances reflected the spatial distribution of negative concordances. Thus, a different hemispheric contribution emerged, possibly related to pathogenetic factors affecting the right hemisphere during early developmental stages. Besides, WM fiber tracts linking the brain structures involved in social cognition showed abnormalities, and most of them had a negative concordance with the connected GM regions. We interpreted the results in terms of altered brain networks and their role in the pervasive symptoms dramatically impairing communication and social skills in ASD patients. Hum Brain Mapp, 2013. (c) 2013 Wiley Periodicals, Inc.
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8. Conson M, Mazzarella E, Frolli A, Esposito D, Marino N, Trojano L, Massagli A, Gison G, Aprea N, Grossi D. {{Motor imagery in asperger syndrome: testing action simulation by the hand laterality task}}. {PLoS One};2013;8(7):e70734.
Asperger syndrome (AS) is a neurodevelopmental condition within the Autism Spectrum Disorders (ASD) characterized by specific difficulties in social interaction, communication and behavioural control. In recent years, it has been suggested that ASD is related to a dysfunction of action simulation processes, but studies employing imitation or action observation tasks provided mixed results. Here, we addressed action simulation processes in adolescents with AS by means of a motor imagery task, the classical hand laterality task (to decide whether a rotated hand image is left or right); mental rotation of letters was also evaluated. As a specific marker of action simulation in hand rotation, we assessed the so-called biomechanical effect, that is the advantage for judging hand pictures showing physically comfortable versus physically awkward positions. We found the biomechanical effect in typically-developing participants but not in participants with AS. Overall performance on both hand laterality and letter rotation tasks, instead, did not differ in the two groups. These findings demonstrated a specific alteration of motor imagery skills in AS. We suggest that impaired mental simulation and imitation of goal-less movements in ASD could be related to shared cognitive mechanisms.
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9. Duarte ST, Armstrong J, Roche A, Ortez C, Perez A, O’Callaghan Mdel M, Pereira A, Sanmarti F, Ormazabal A, Artuch R, Pineda M, Garcia-Cazorla A. {{Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with rett syndrome}}. {PLoS One};2013 (Jul 22);8(7):e68851.
OBJECTIVE: Rett Syndrome is a progressive neurodevelopmental disorder caused mainly by mutations in the gene encoding methyl-CpG-binding protein 2. The relevance of MeCP2 for GABAergic function was previously documented in animal models. In these models, animals show deficits in brain-derived neurotrophic factor, which is thought to contribute to the pathogenesis of this disease. Neuronal Cation Chloride Cotransporters (CCCs) play a key role in GABAergic neuronal maturation, and brain-derived neurotrophic factor is implicated in the regulation of CCCs expression during development. Our aim was to analyse the expression of two relevant CCCs, NKCC1 and KCC2, in the cerebrospinal fluid of Rett syndrome patients and compare it with a normal control group. METHODS: The presence of bumetanide sensitive NKCC1 and KCC2 was analysed in cerebrospinal fluid samples from a control pediatric population (1 day to 14 years of life) and from Rett syndrome patients (2 to 19 years of life), by immunoblot analysis. RESULTS: Both proteins were detected in the cerebrospinal fluid and their levels are higher in the early postnatal period. However, Rett syndrome patients showed significantly reduced levels of KCC2 and KCC2/NKCC1 ratio when compared to the control group. CONCLUSIONS: Reduced KCC2/NKCC1 ratio in the cerebrospinal fluid of Rett Syndrome patients suggests a disturbed process of GABAergic neuronal maturation and open up a new therapeutic perspective.
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10. Faja S, Murias M, Beauchaine TP, Dawson G. {{Reward-Based Decision Making and Electrodermal Responding by Young Children with Autism Spectrum Disorders during a Gambling Task}}. {Autism Res};2013 (Jul 24)
In this study, we explore reward-based decision making and electrodermal responding (EDR) among children with autism spectrum disorder (ASD) during a children’s gambling task. In addition, we examine whether individual behavioral and EDR responses predict social communication, repetitive symptoms, parent reports of executive function, and behavioral challenges. The ability to form advantageous strategies for long-term gain is of interest for children with ASD, who exhibit both difficulty with executive function and atypical responses to reward. Twenty-one children ages 6-7 years with ASD and no intellectual disability, and 21 age- and IQ-matched typically developing children participated. Both groups exhibited a similar pattern of gambling selections, but children with ASD showed less knowledge of the reward contingencies of the decks after playing. In addition, although EDR was similar between groups in anticipation of selections, children with ASD exhibited greater EDR during feedback about rewards as the task progressed. Children with ASD who exhibited the greatest increases in EDR were more likely to exhibit repetitive symptoms, particularly rituals and the need for sameness, as well as internalizing behaviors and reduced executive function in other settings. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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11. Favre MR, Barkat TR, Lamendola D, Khazen G, Markram H, Markram K. {{General developmental health in the VPA-rat model of autism}}. {Front Behav Neurosci};2013;7:88.
Autism is a neurodevelopmental condition diagnosed by impaired social interaction, abnormal communication and, stereotyped behaviors. While post-mortem and imaging studies have provided good insights into the neurobiological symptomology of autism, animal models can be used to study the neuroanatomical, neurophysiological and molecular mediators in more detail and in a more controlled environment. The valproic acid (VPA) rat model is an environmentally triggered model with strong construct and clinical validity. It is based on VPA teratogenicity in humans, where mothers who are medicated with VPA during early pregnancy show an increased risk for giving birth to an autistic child. In rats, early embryonic exposure, around the time of neural tube closure, leads to autism-like anatomical and behavioral abnormalities in the offspring. Considering the increasing use of the VPA rat model, we present our observations of the general health of Wistar dams treated with a single intraperitoneal injection of 500 or, 600 mg/kg VPA on embryonic day E12.5, as well as their male and female offspring, in comparison to saline-exposed controls. We report increased rates of complete fetal reabsorption after both VPA doses. VPA 500 mg/kg showed no effect on dam body weight during pregnancy or, on litter size. Offspring exposed to VPA 500 mg/kg showed smaller brain mass on postnatal days 1 (P1) and 14 (P14), in addition to abnormal nest seeking behavior at P10 in the olfactory discrimination test, relative to controls. We also report increased rates of physical malformations in the offspring, rare occurrences of chromodacryorrhea and, developmentally similar body mass gain. Further documentation of developmental health may guide sub-grouping of individuals in a way to better predict core symptom severity.
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12. Funahashi A, Gruebler A, Aoki T, Kadone H, Suzuki K. {{Brief Report: The Smiles of a Child with Autism Spectrum Disorder During an Animal-assisted Activity May Facilitate Social Positive Behaviors-Quantitative Analysis with Smile-detecting Interface}}. {J Autism Dev Disord};2013 (Jul 27)
We quantitatively measured the smiles of a child with autism spectrum disorder (ASD-C) using a wearable interface device during animal-assisted activities (AAA) for 7 months, and compared the results with a control of the same age. The participant was a 10-year-old boy with ASD, and a normal healthy boy of the same age was the control. They voluntarily participated in this study. Neither child had difficulty putting on the wearable device. They kept putting on the device comfortably through the entire experiment (duration of a session was about 30-40 min). This study was approved by the Ethical Committee based on the rules established by the Institute for Developmental Research, Aichi Human Service Center. The behavior of the participants during AAA was video-recorded and coded by the medical examiner (ME). In both groups, the smiles recognized by the ME corresponded with the computer-detected smiles. In both groups, positive social behaviors increased when the smiles increased. Also, negative social behaviors decreased when the smiles increased in the (ASD-C). It is suggested that by leading the (ASD-C) into a social environment that may cause smiling, the child’s social positive behaviors may be facilitated and his social negative behaviors may be decreased.
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13. Gu F, Chauhan V, Chauhan A. {{Impaired synthesis and antioxidant defense of glutathione in the cerebellum of autistic subjects: Alterations in the activities and protein expression of glutathione-related enzymes}}. {Free Radic Biol Med};2013 (Jul 25)
Autism is a neurodevelopmental disorder associated with social deficits and behavioral abnormalities. Recent evidence in autism suggests deficit in glutathione (GSH), a major endogenous antioxidant. It is not known whether the synthesis, consumption and/or regeneration of GSH are affected in autism. In the cerebellum tissues from autism (n=10) and age-matched control subjects (n=10), the activities of GSH-related enzymes: glutathione peroxidase (GPx), glutathione-S-transferase (GST), glutathione reductase (GR) and glutamate cysteine ligase (GCL) involved in antioxidant defense, detoxification, GSH regeneration and synthesis, respectively, were analyzed. GCL is a rate-limiting enzyme for GSH synthesis, and the relationship between its activity and protein expression of its catalytic subunit GCLC and its modulatory subunit GCLM was also compared between the autistic and control groups. Results showed that the activities of GPx and GST were significantly decreased in autism compared to that of the control group (p<0.05). Although there was no significant difference in GR activity between autism and control groups, 40% of autistic subjects showed lower GR activity than 95% confidence interval (CI) of the control group. GCL activity was also significantly reduced by 38.7% in autistic group compared to the control group (p=0.023), and 8 of 10 autistic subjects had values below 95% CI of the control group. The ratio of protein levels of GCLC to GCLM in autism group was significantly higher than that of the control group (p=0.022), and GCLM protein levels were reduced by 37.3% in autistic group compared to the control group. A positive strong correlation was observed between GCL activity and protein levels of GCLM (r=0.887) and GCLC (r=0.799) subunits in control subjects but not in autistic subjects, suggesting that regulation of GCL activity is affected in autism. These results suggest that enzymes involved in GSH homeostasis have impaired activities in the cerebellum in autism, and lower GCL activity in autism may be related to decreased protein expression of GCLM.
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14. Hanson LK, Atance CM. {{Brief Report: Episodic Foresight in Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Jul 27)
Episodic foresight (EpF) or, the ability to imagine the future and use such imagination to guide our actions, is an important aspect of cognition that has not yet been explored in children with autism spectrum disorder (ASD). This is despite its proposed links with theory of mind (ToM) and executive function (EF), two areas found to be impaired in ASD. Twenty-five children with ASD (M = 5 years, 10 months; 22 male) and 25 mental-age-matched typically developing children (M = 4 years, 10 months; 22 male) completed a series of EpF, ToM, and EF tasks. Significant group differences were detected on several EpF tasks suggesting that children with ASD show impairments in thinking about their future selves.
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15. Hill-Yardin EL, Hannan AJ. {{Translating preclinical environmental enrichment studies for the treatment of autism and other brain disorders: Comment on Woo and Leon (2013)}}. {Behav Neurosci};2013 (Aug);127(4):606-609.
Environmental enrichment (EE) has been shown to induce beneficial effects in mouse models of autism spectrum disorder (ASD), as well as animal models of a variety of other neurological and psychiatric disorders. Investigation of the mechanisms responsible for these changes in animal models will facilitate translation of EE and associated therapies to patient cohorts. In the accompanying article, Woo and Leon demonstrate clinical benefits of sensorimotor enrichment in patients with ASD. We discuss the implications of these findings for future development of therapeutic approaches for ASD and other brain disorders. (PsycINFO Database Record (c) 2013 APA, all rights reserved).
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16. Huke V, Turk J, Saeidi S, Kent A, Morgan JF. {{Autism Spectrum Disorders in Eating Disorder Populations: A Systematic Review}}. {Eur Eat Disord Rev};2013 (Jul 31)
OBJECTIVE: Empirical research addressing cognitive processing deficits in eating disorders has noted an overlap with autism spectrum disorders. We conducted a systematic review investigating the prevalence of autism spectrum disorder in its entirety in eating disordered populations. METHODS: A comprehensive search for relevant studies was performed on five electronic databases. Studies were not included if solely focused on specific traits of autism spectrum disorders, for instance, theory of mind, set shifting or central coherence. Titles, abstracts and full texts were screened by two members of the research team independently. Quantitative studies published in English were included. RESULTS: A total of eight studies were found to fit the inclusion criteria. Results showed significantly raised prevalence rates of autism spectrum disorder in eating disorder populations compared with those in healthy control participants. DISCUSSION: This discovery has clinical implications and may assist in deciphering poor responses to conventional treatment, facilitating new psychological interventions for eating disorders. Copyright (c) 2013 John Wiley & Sons, Ltd and Eating Disorders Association.
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17. Iwanaga R, Honda S, Nakane H, Tanaka K, Toeda H, Tanaka G. {{Pilot Study: Efficacy of Sensory Integration Therapy for Japanese Children with High-Functioning Autism Spectrum Disorder}}. {Occup Ther Int};2013 (Jul 25)
This study’s objective was to investigate the efficacy of sensory integration therapy (SIT) for children with high-functioning autism spectrum disorder (HFASD). The subjects were 20 HFASD children with IQs above 70 selected from previously collected data. Eight participated in individual SIT sessions, and 12 participated in group therapy (GT) including social skill training, communication training, kinetic activities, and child-parent play for 8-10 months. Changes in Total score and five Index scores on the Japanese version of the Miller Assessment for Preschoolers before and after therapy between children in the SIT and GT groups were compared. The results showed that Total score and all Index scores except for Verbal Index increased significantly in the SIT group, while only Total score increased in the GT group. Furthermore, the SIT group showed more improvement compared with the GT group in Total score and on Coordination, Non-verbal, and Complex Index scores. SIT might have a more positive effect on motor coordination abilities, non-verbal cognitive abilities, and combined abilities of sensory motor and cognition in children with HFASD when compared with GT. This study has limitations such as being an analysis of previously collected data. Further study should be conducted with a randomized control trial. Copyright (c) 2013 John Wiley & Sons, Ltd.
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18. Lovell B, Moss M, Wetherell MA. {{The psychophysiological and health corollaries of child problem behaviours in caregivers of children with autism and ADHD}}. {J Intellect Disabil Res};2013 (Jul 24)
BACKGROUND: The positive relationship between problem behaviours of children with additional complex needs and psychological distress in their caregivers has been widely evidenced. Fewer studies, however, have assessed the relationship between care recipients’ problem behaviours and key physiological processes, relevant for the physical health status of their care providers. This study examined the psychological, endocrine and health corollaries of child problem behaviours in caregivers of children with autism and attention deficit hyperactivity disorder. METHODS: Caregivers (n = 18) completed self-report measures of psychological distress, child problem behaviours and incidences of commonly occurring ailments. To capture important parameters of the basal diurnal cortisol pattern, caregivers collected saliva samples at waking, 30 min post waking, 1200 h and 2200 h on two consecutive weekdays. RESULTS: Data revealed a positive relationship between caregivers’ perceived levels of stress and problems with child conduct behaviours. In addition, caregivers who reported more problems with child emotional and hyperactivity behaviours displayed atypical cortisol patterns characterised by flatter diurnal cortisol slopes and reduced cortisol awakening response magnitude. Subjective reports of commonly occurring ailments were also greater in caregivers experiencing more problems with child emotional behaviours. CONCLUSIONS: These findings have implications for interventions that aim to improve the psychophysiological well-being of the caregiver by targeting problem behaviours of the care recipient.
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19. Mameza MG, Dvoretskova E, Bamann M, Hoenck HH, Guler T, Boeckers TM, Schoen M, Verpelli C, Sala C, Barsukov I, Dityatev A, Kreienkamp HJ. {{SHANK3 mutations associated with autism facilitate ligand binding to the Shank3 Ankyrin repeat region}}. {J Biol Chem};2013 (Jul 29)
Shank/ProSAP proteins are major scaffold proteins of the postsynaptic density; mutations in the human SHANK3 gene are associated with intellectual disability or autism spectrum disorders. We have analyzed the functional relevance of several SHANK3 missense mutations affecting the N-terminal portion of the protein by expression of wild type and mutant Shank3 in cultured neurons and by binding assays in heterologous cells. Postsynaptic targeting of recombinant Shank3 was unaltered. In electrophysiological experiments, both wild type and L68P mutant forms of Shank3 were equally effective in restoring synaptic function after knockdown of endogenous Shank3. We observed that several mutations affected binding to known interaction partners of the Shank3 ankyrin repeat region, Sharpin and alpha-fodrin. One of these mutations, L68P, improved binding to both ligands. L68 is located N-terminal to the ankyrin repeats, in a highly conserved region that we identify here as a novel domain termed the Shank/ProSAP N-terminal (SPN) domain. We show that the SPN domain interacts with the ankyrin repeats in an intramolecular manner, thereby restricting access of either Sharpin or alpha-fodrin. The L68P mutation disrupts this blockade, thus exposing the Shank3 ankyrin repeat region to its ligands. Our data identify a new type of regulation of Shank proteins and suggest that mutations in the SHANK3 gene do not necessarily induce a loss of function, but may represent a gain of function with respect to specific interaction partners.
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20. Martin GE, Losh M, Estigarribia B, Sideris J, Roberts J. {{Longitudinal profiles of expressive vocabulary, syntax and pragmatic language in boys with fragile X syndrome or Down syndrome}}. {Int J Lang Commun Disord};2013 (Jul);48(4):432-443.
BACKGROUND: Fragile X syndrome (FXS) and Down syndrome (DS) are the two leading genetic causes of intellectual disability, and FXS is the most common known genetic condition associated with autism. Both FXS and DS are associated with significant language impairment, but little is known about expressive language across domains over time or the role of autism in language development in FXS. AIMS: To compare three domains of language production (vocabulary, syntax, pragmatics) over time within and across groups of boys with FXS with and without autism spectrum disorder (FXS-ASD, FXS-O), boys with DS, and typically developing (TD) boys. METHODS & PROCEDURES: Twenty-nine boys with FXS-O, 40 boys with FXS-ASD, 34 boys with DS, and 48 younger TD boys of similar non-verbal mental age living in the United States participated in the study. The Antonyms, Syntax Construction and Pragmatic Judgment subtests of the Comprehensive Assessment of Spoken Language were administered annually over 3 years. OUTCOMES & RESULTS: TD boys scored higher than all other groups on all three subtests; boys with FXS-O and FXS-ASD scored higher than boys with DS in Syntax Construction; and boys with FXS-O scored higher than boys with FXS-ASD in Pragmatic Judgment. Within-group patterns varied between groups. Overall, the TD group showed significantly more change over time than all other groups. CONCLUSIONS & IMPLICATIONS: Findings suggest that expressive language skills and growth across various domains are more impaired in boys with FXS and DS than would be expected based on non-verbal mental age, that for boys with DS syntax is more impaired than would be expected based on intellectual disability, and that autism status affects pragmatic language in boys with FXS. Findings suggest that language production across domains should be addressed during assessment and intervention for boys with FXS and boys with DS, with differing group profiles also suggesting potentially different areas of focus.
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21. Mazurek MO, Engelhardt CR. {{Video Game Use in Boys With Autism Spectrum Disorder, ADHD, or Typical Development}}. {Pediatrics};2013 (Jul 29)
OBJECTIVES:The study objectives were to examine video game use in boys with autism spectrum disorder (ASD) compared with those with ADHD or typical development (TD) and to examine how specific symptoms and game features relate to problematic video game use across groups.METHODS:Participants included parents of boys (aged 8-18) with ASD (n = 56), ADHD (n = 44), or TD (n = 41). Questionnaires assessed daily hours of video game use, in-room video game access, video game genres, problematic video game use, ASD symptoms, and ADHD symptoms.RESULTS:Boys with ASD spent more time than did boys with TD playing video games (2.1 vs 1.2 h/d). Both the ASD and ADHD groups had greater in-room video game access and greater problematic video game use than the TD group. Multivariate models showed that inattentive symptoms predicted problematic game use for both the ASD and ADHD groups; and preferences for role-playing games predicted problematic game use in the ASD group only.CONCLUSIONS:Boys with ASD spend much more time playing video games than do boys with TD, and boys with ASD and ADHD are at greater risk for problematic video game use than are boys with TD. Inattentive symptoms, in particular, were strongly associated with problematic video game use for both groups, and role-playing game preferences may be an additional risk factor for problematic video game use among children with ASD. These findings suggest a need for longitudinal research to better understand predictors and outcomes of video game use in children with ASD and ADHD.
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22. Mila M, Ramos F, Tejada Minguez I. {{[Clinical guideline of gene FMR1-associated diseases: fragile X syndrome, primary ovarian insufficiency and tremor-ataxia syndrome.]}}. {Med Clin (Barc)};2013 (Jul 25)
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23. Oblak A, Gibbs TT, Blatt GJ. {{Reduced Serotonin Receptor Subtypes in a Limbic and a Neocortical Region in Autism}}. {Autism Res};2013 (Jul 24)
Autism is a behaviorally defined, neurological disorder with symptom onset before the age of 3. Abnormalities in social-emotional behaviors are a core deficit in autism, and are characterized by impaired reciprocal-social interaction, lack of facial expressions, and the inability to recognize familiar faces. The posterior cingulate cortex (PCC) and fusiform gyrus (FG) are two regions within an extensive limbic-cortical network that contribute to social-emotional behaviors. Evidence indicates that changes in brains of individuals with autism begin prenatally. Serotonin (5-HT) is one of the earliest expressed neurotransmitters, and plays an important role in synaptogenesis, neurite outgrowth, and neuronal migration. Abnormalities in 5-HT systems have been implicated in several psychiatric disorders, including autism, as evidenced by immunology, imaging, genetics, pharmacotherapy, and neuropathology. Although information is known regarding peripheral 5-HT in autism, there is emerging evidence that 5-HT systems in the central nervous system, including various 5-HT receptor subtypes and transporters, are affected in autism. The present study demonstrated significant reductions in 5-HT1A receptor-binding density in superficial and deep layers of the PCC and FG, and in the density of 5-HT2A receptors in superficial layers of the PCC and FG. A significant reduction in the density of serotonin transporters (5-HTT) was also found in the deep layers of the FG, but normal levels were demonstrated in both layers of the PCC and superficial layers of the FG. This study provides potential substrates for decreased 5-HT modulation/innervation in the autism brain, and implicate two 5-HT receptor subtypes as potential neuromarkers for novel or existing pharmacotherapies. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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24. Reichow B, Shefcyk A, Bruder MB. {{Quality comparison of websites related to developmental disabilities}}. {Res Dev Disabil};2013 (Jul 22);34(10):3077-3083.
The Internet is commonly used to seek health-related information, but little is known about the quality of websites on developmental disabilities. Therefore, we sought to evaluate the characteristics and quality of websites located by searching ten common terms related to developmental disabilities and explore relations between website characteristics and website quality in order to make recommendations on ways to ensure locating good online information. We located 208 unique websites in our November 2012 US searches of Google and Bing. Two independent coders evaluated 10 characteristics of the websites and two different coders assessed the quality of the websites. From the 208 websites, 104 (50%) provided relevant information about the disability being searched. Of these 104 websites, those found to be of highest quality were least likely to be a sponsored result, contain advertisements, be from a for-profit company, and did contain references to peer-reviewed publications or had a top-level domain of .gov or .org. Individuals with developmental disabilities and their family members who choose to obtain disability-related information online should remain vigilant to ensure that they locate high-quality and accurate information and should not replace information obtained from health-care professionals and educational specialists with information found online.
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25. Reiner P, Taifas I, Massiou H, Jouvent E. {{Pure psychiatric presentation of Fragile X-associated tremor/ataxia syndrome}}. {Eur J Neurol};2013 (Sep);20(9):e113-114.
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26. Rossi J, Newschaffer C, Yudell M. {{Autism spectrum disorders, risk communication, and the problem of inadvertent harm}}. {Kennedy Inst Ethics J};2013 (Jun);23(2):105-138.
Autism spectrum disorders (ASDs) are an issue of significant and growing importance to the field of public health. The prevalence of ASDs is rising, and these disorders significantly impact the quality of life of affected persons and their families. Though the etiology of ASDs has long been poorly understood, in recent years, studies are revealing genetic and environmental risk information about ASDs, with much more risk information expected to follow from scientific studies currently underway. The availability of this risk information raises questions about whether and how it should be communicated to individuals, families, and the public at large. One ethical issue of particular concern with ASD risk communication is the possibility that it may cause inadvertent harm to risk message recipients. Here we review the emerging picture of ASD risk, discuss some ways in which it may lead to inadvertent harm, and suggest some future directions for risk communication research and practice that might help to address this issue.
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27. Salehi Sadaghiani M, Aghamohammadi A, Ashrafi MR, Hosseini F, Abolhassani H, Rezaei N. {{Autism in a child with common variable immunodeficiency}}. {Iran J Allergy Asthma Immunol};2013 (Sep);12(3):287-289.
Autism is a neurodevelopmental disorder, characterized by poor social interaction and communication impairment and repetitive behavior. Autism is considered as a genetic and multifactorial disorder, with diverse risk factors involved.Herein, we report a 13-year-old male with common variable immunodeficiency (CVID), who was diagnosed with autism at the age of 3 years old. As there are some evidences about the role of the immune system defects in the pathogenesis of autism, specific primary antibody deficiency diseases such as CVID might predispose some affected cases to such neurodevelopmental disorders.
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28. Schohl KA, Van Hecke AV, Carson AM, Dolan B, Karst J, Stevens S. {{A Replication and Extension of the PEERS Intervention: Examining Effects on Social Skills and Social Anxiety in Adolescents with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Jul 27)
This study aimed to evaluate the Program for the Education and Enrichment of Relational Skills (PEERS: Laugeson et al. in J Autism Dev Disord 39(4):596-606, 2009). PEERS focuses on improving friendship quality and social skills among adolescents with higher-functioning ASD. 58 participants aged 11-16 years-old were randomly assigned to either an immediate treatment or waitlist comparison group. Results revealed, in comparison to the waitlist group, that the experimental treatment group significantly improved their knowledge of PEERS concepts and friendship skills, increased in their amount of get-togethers, and decreased in their levels of social anxiety, core autistic symptoms, and problem behaviors from pre-to post-PEERS. This study provides the first independent replication and extension of the empirically-supported PEERS social skills intervention for adolescents with ASD.
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29. Solomon O, Lawlor MC. {{« And I look down and he is gone »: Narrating autism, elopement and wandering in Los Angeles}}. {Soc Sci Med};2013 (Jul 5)
‘Wandering’ and ‘elopement’ have been identified as common in autism, affecting half of all diagnosed children ages four to ten, yet families rarely receive advice from practitioners even after the fact. Family perspectives have been missing from the literature as well as from public health and policy debates on how and when to respond to this problem. The problem of ‘wandering’ and ‘elopement’ reveals a complex intersection of larger issues encountered by families of children with autism. To consider these issues, this article examines ‘wandering’ and ‘elopement’ from the perspectives of African American mothers of children with autism, an underrepresented group in autism research. We consider how the mothers experience these behaviors and the response to these behaviors by professionals, such as service coordinators and law enforcement personnel working within various jurisdictions that become involved with the problem. We analyze the mothers’ narratives about ‘wandering’ and ‘elopement’ drawn from ethnographic interviews that were collected between October 1, 2009 and August 31, 2012. These interviews were part of a larger project on disparities in autism diagnosis and services that followed a cohort of 25 four to ten-year old children. Drawing on narrative, phenomenological and interpretive traditions, we trace the mothers’ developing understandings of ‘wandering’ and ‘elopement’ over time, and show how these understandings become elaborated and transformed. This article provides a nuanced, moment-to-moment and longitudinal picture of the mothers’ experiences of ‘wandering’ and ‘elopement’ that enriches the cross-sectional view of large-scale surveys about the problem and contributes unique insights at the family and community levels. Implications for professional awareness, clinical practice and service provision are also suggested.
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30. Sun X, Allison C, Auyeung B, Matthews FE, Baron-Cohen S, Brayne C. {{The Mandarin Chinese version of the childhood autism spectrum test (CAST): Test-retest reliability}}. {Res Dev Disabil};2013 (Jul 25);34(10):3267-3275.
This study aimed to investigate the test-retest reliability of a Mandarin Chinese version of the Childhood Autism Spectrum Test (CAST), in a Chinese population. Parents in a school based study on the prevalence of ASC in mainland China were asked to complete a second version of the CAST approximately 2-4 months after first completion. Test retest data were available from 70 children (questionnaires completed by the same parent). Using a cut-off score of 15, the test-retest reliability was good (kappa=0.64). The test-retest reliability in three categories (</=11, 12-14, >/=15) was moderate (weighted kappa=0.53). The correlation between the scores at CAST-1 and CAST-2 was good (Spearman rho=0.73). The Mandarin CAST demonstrated moderate to good test-retest reliability as a screening instrument for ASC in an assessment sample in mainland China.
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31. Tamas D, Markovic S, Milankov V. {{Systemic multimodal approach to speech therapy treatment in autistic children}}. {Med Pregl};2013 (May-Jun);66(5-6):233-239.
INTRODUCTION: Conditions in which speech therapy treatment is applied in autistic children are often not in accordance with characteristics of opinions and learning of people with autism. A systemic multimodal approach means motivating autistic people to develop their language speech skill through the procedure which allows reliving of their personal experience according to the contents that are presented in the their natural social environment. This research was aimed at evaluating the efficiency of speech treatment based on the systemic multimodal approach to the work with autistic children. MATERIAL AND METHODS: The study sample consisted of 34 children, aged from 8 to 16 years, diagnosed to have different autistic disorders, whose results showed a moderate and severe clinical picture of autism on the Childhood Autism Rating Scale. The applied instruments for the evaluation of ability were the Childhood Autism Rating Scale and Ganzberg II test. The study subjects were divided into two groups according to the type of treatment: children who were covered by the continuing treatment and systemic multimodal approach in the treatment, and children who were covered by classical speech treatment. RESULTS: It is shown that the systemic multimodal approach in teaching autistic children affects the stimulation of communication, socialization, self-service and work as well as that the progress achieved in these areas of functioning was retainable after long time, too. CONCLUSION: By applying the systemic multimodal approach when dealing with autistic children and by comparing their achievements on tests applied before, during and after the application of this mode, it has been concluded that certain improvement has been achieved in the functionality within the diagnosed category. The results point to a possible direction in the creation of new methods, plans and programs in dealing with autistic children based on empirical and interactive learning.
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32. Torres EB, Brincker M, Isenhower RW, Yanovich P, Stigler KA, Nurnberger JI, Metaxas DN, Jose JV. {{Autism: the micro-movement perspective}}. {Front Integr Neurosci};2013;7:32.
The current assessment of behaviors in the inventories to diagnose autism spectrum disorders (ASD) focus on observation and discrete categorizations. Behaviors require movements, yet measurements of physical movements are seldom included. Their inclusion however, could provide an objective characterization of behavior to help unveil interactions between the peripheral and the central nervous systems (CNSs). Such interactions are critical for the development and maintenance of spontaneous autonomy, self-regulation, and voluntary control. At present, current approaches cannot deal with the heterogeneous, dynamic and stochastic nature of development. Accordingly, they leave no avenues for real time or longitudinal assessments of change in a coping system continuously adapting and developing compensatory mechanisms. We offer a new unifying statistical framework to reveal re-afferent kinesthetic features of the individual with ASD. The new methodology is based on the non-stationary stochastic patterns of minute fluctuations (micro-movements) inherent to our natural actions. Such patterns of behavioral variability provide re-entrant sensory feedback contributing to the autonomous regulation and coordination of the motor output. From an early age, this feedback supports centrally driven volitional control and fluid, flexible transitions between intentional and spontaneous behaviors. We show that in ASD there is a disruption in the maturation of this form of proprioception. Despite this disturbance, each individual has unique adaptive compensatory capabilities that we can unveil and exploit to evoke faster and more accurate decisions. Measuring the kinesthetic re-afference in tandem with stimuli variations we can detect changes in their micro-movements indicative of a more predictive and reliable kinesthetic percept. Our methods address the heterogeneity of ASD with a personalized approach grounded in the inherent sensory-motor abilities that the individual has already developed.
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33. Wehman PH, Schall CM, McDonough J, Kregel J, Brooke V, Molinelli A, Ham W, Graham CW, Erin Riehle J, Collins HT, Thiss W. {{Competitive Employment for Youth with Autism Spectrum Disorders: Early Results from a Randomized Clinical Trial}}. {J Autism Dev Disord};2013 (Jul 27)
For most youth with autism spectrum disorders (ASD), employment upon graduation from high school or college is elusive. Employment rates are reported in many studies to be very low despite many years of intensive special education services. This paper presented the preliminary results of a randomized clinical trial of Project SEARCH plus ASD Supports on the employment outcomes for youth with ASD between the ages of 18-21 years of age. This model provides very promising results in that the employment outcomes for youth in the treatment group were much higher in non-traditional jobs with higher than minimum wage incomes than for youth in the control condition. Specifically, 21 out of 24 (87.5 %) treatment group participants acquired employment while 1 of 16 (6.25 %) of control group participants acquired employment.
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34. Williams D, Jarrold C. {{Assessing Planning and Set-Shifting Abilities in Autism: Are Experimenter-Administered and Computerised Versions of Tasks Equivalent?}}. {Autism Res};2013 (Jul 26)
Across studies, analysis of performance on classic measures of executive functioning (EF) among individuals with autism spectrum disorder (ASD) suggests that people with this disorder may be impaired only when tasks are experimenter-administered, but not when the same tasks are computer-administered. This would imply that the underlying cause of apparent executive dysfunction in ASD is a diminished ability to engage with another person/comprehend what another person expects, rather than a diminution of the control processes that typically underpin EF task performance. However, this suggestion is limited because, to our knowledge, no study has directly compared the equivalence of computer-administered and standard experimenter-administered versions of EF tasks that have been presented in counterbalanced order among a common sample of individuals with ASD. In the current study, 21 children with ASD and 22 age- and intelligence quotient (IQ)-matched comparison participants completed, in counterbalanced order, computerised and manual versions of both a planning task and a cognitive flexibility/set-shifting task. Contrary to expectation, results indicated that participants with ASD were equally impaired in terms of the key dependent variable on standard and computerised versions of both tasks. Practically, these results suggest that computer-administered and experimenter-administered versions of planning and set-shifting tasks are equivalent among individuals with ASD and can be used interchangeably in studies of EF among this population. Theoretically, these results challenge the notion that poor performance on EF tasks among school-aged children with ASD is only the result of a limited ability to engage with a human experimenter/comprehend socially presented rules. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
