1. Bandstra NF, Johnson SA, Filliter JH, Chambers CT. {{Self-reported and Parent-reported Pain for Common Painful Events in High-functioning Children and Adolescents With Autism Spectrum Disorder}}. {Clin J Pain};2012 (Jun 13)
OBJECTIVES:: Previous research suggests that children with autism spectrum disorders (ASD) are at a higher risk for painful experiences, but there is limited research examining pain in children with ASD. METHODS:: The current study examined self-reported and parent-reported pain in 20 high-functioning youth with ASD (17 boys; 3 girls) and 20 typically developing controls (16 boys; 4 girls) ranging in age from 9 to 18 years and matched on age and IQ. Participants with and without ASD rated their hypothetical pain in a series of pictures depicting common childhood situations. They also rated the amount of pain they would expect to feel (using the Faces Pain Scale-Revised and a Numeric Rating Scale) in a series of validated hypothetical pain situations depicted in cartooned images (eg, scraping knee on sidewalk). Parents rated the amount of pain they would expect their child to show in each of the same cartoon stimuli. RESULTS:: There were no significant differences between pain vignette ratings of youth with ASD and their non-ASD peers or in the ratings provided by their parents. High-functioning youth with ASD were able to successfully use both of the self-report scales to rate pain. DISCUSSION:: This is the first study to successfully obtain self-report of pain from youth with ASD. Implications for the understanding of pain and pain assessment in high-functioning youth with ASD are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
2. Beacher FD, Radulescu E, Minati L, Baron-Cohen S, Lombardo MV, Lai MC, Walker A, Howard D, Gray MA, Harrison NA, Critchley HD. {{Sex Differences and Autism: Brain Function during Verbal Fluency and Mental Rotation}}. {PLoS One};2012;7(6):e38355.
Autism spectrum conditions (ASC) affect more males than females. This suggests that the neurobiology of autism: 1) may overlap with mechanisms underlying typical sex-differentiation or 2) alternately reflect sex-specificity in how autism is expressed in males and females. Here we used functional magnetic resonance imaging (fMRI) to test these alternate hypotheses. Fifteen men and fourteen women with Asperger syndrome (AS), and sixteen typically developing men and sixteen typically developing women underwent fMRI during performance of mental rotation and verbal fluency tasks. All groups performed the tasks equally well. On the verbal fluency task, despite equivalent task-performance, both males and females with AS showed enhanced activation of left occipitoparietal and inferior prefrontal activity compared to controls. During mental rotation, there was a significant diagnosis-by-sex interaction across occipital, temporal, parietal, middle frontal regions, with greater activation in AS males and typical females compared to AS females and typical males. These findings suggest a complex relationship between autism and sex that is differentially expressed in verbal and visuospatial domains.
Lien vers le texte intégral (Open Access ou abonnement)
3. Bourke-Taylor H, Pallant JF, Law M, Howie L. {{Predicting mental health among mothers of school-aged children with developmental disabilities: The relative contribution of child, maternal and environmental factors}}. {Res Dev Disabil};2012 (Jun 12);33(6):1732-1740.
AIM: Many mothers of children with developmental disabilities are known to experience high levels of stress, and compromised mental health. Research is crucial to better understand and assist mothers with compromised mental health, and ultimately better service families raising and supporting a child with a disability. METHOD: Data were collected using cross sectional mail-out survey with follow up phone call. Instruments included the Short Form 36 version 2 (SF-36v2) and instruments that measured maternal, child and environmental factors. Descriptive statistics examined characteristics of participants. Correlation, t-tests, and multiple regression analyses were used to identify factors associated with mothers’ mental health. RESULTS: Mothers (N=152) cared for a school-aged child (aged 5-18 years) with high care needs and developmental disabilities including autism spectrum disorder (n=94); cerebral palsy (n=29); attention deficit hyperactivity disorder (n=19). Factors associated with maternal mental health included the child’s psychosocial health (r=.36) and challenging behaviour (r=-.33); maternal empowerment (r=.40); maternal participation in health promoting activities (r=.43); and the child’s unmet service needs (r=-.29). The strongest predictors of maternal mental health in this cross sectional study were maternal participation in healthy activity and empowerment, the child’s emotional functioning and unmet service needs. CONCLUSION: This study identified maternal factors as the most important influence on self reported mental health among this sample of mothers. Findings suggest that service changes that provide mothers with information about their own health and need for health enhancing activities, as well as education that empowers mothers to manage and master their child’s disability and needs, may contribute to maternal mental health and well being.
Lien vers le texte intégral (Open Access ou abonnement)
4. Coman D, Alessandri M, Gutierrez A, Novotny S, Boyd B, Hume K, Sperry L, Odom S. {{Commitment to Classroom Model Philosophy and Burnout Symptoms Among High Fidelity Teachers Implementing Preschool Programs for Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2012 (Jun 16)
Teacher commitment to classroom model philosophy and burnout were explored in a sample of 53 teachers implementing three preschool models at high levels of fidelity for students with autism: Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH); Learning Experiences and Alternative Program for Preschoolers and Their Parents (LEAP); and high quality special education programs (HQSEP’s). Relative to the other groups, LEAP teachers reported significantly higher levels of commitment to LEAP philosophy while TEACCH teachers did not report significantly higher commitment levels to TEACCH philosophy. Teachers in HQSEP’s reported similar levels of commitment to TEACCH and LEAP. Burnout was also low to moderate in this sample relative to normative data. Implications for school districts and teachers are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
5. Cruz I, Vicaria I, Wang NY, Niparko J, Quittner AL. {{Language and Behavioral Outcomes in Children With Developmental Disabilities Using Cochlear Implants}}. {Otol Neurotol};2012 (Jul);33(5):751-760.
OBJECTIVE: Over the past decade, the number of deaf children with developmental disabilities receiving cochlear implants has increased dramatically. However, little is known about the developmental outcomes of these children post-implantation. The current study evaluated oral language and behavioral outcomes over 3 years after implantation in a sample of typically developing deaf children and children with developmental disabilities. STUDY DESIGN: A three year longitudinal study of the effects of cochlear implantation on language and behavioral outcomes in children with and without additional disabilities. SETTING: Six cochlear implant centers in the United States. PATIENTS: The study cohort consisted of 188 deaf children. Eighty-five percent of the sample (n = 157) had a single diagnosis of severe to profound hearing loss and 15% (n = 31) had an additional disability. MAIN OUTCOME MEASURES: Oral language was assessed using the Reynell Developmental Language Scales, and behavioral outcomes were assessed using the Child Behavior Checklist. RESULTS: Results using multilevel modeling indicated that deaf children with and without additional disabilities improved significantly in oral language skills post-implantation. However, children with additional disabilities made slower progress. In terms of specific diagnoses, children with developmental disorders, such as autism, made the slowest progress over time. In addition, behavior problems increased significantly in this group, whereas behavior problems decreased over 3 years in the typically developing deaf sample. CONCLUSION: Overall, given the improvements in expressive and receptive language skills documented over 3 years, these findings support the use of cochlear implants for deaf children with developmental disabilities.
Lien vers le texte intégral (Open Access ou abonnement)
6. Maes JH, Vissers CT, Egger JI, Eling PA. {{On the relationship between autistic traits and executive functioning in a non-clinical Dutch student population}}. {Autism};2012 (Jun 14)
We examined the association between autistic traits and different aspects of executive functioning (EF), using non-clinical Social Science and Science students as participants. Autistic traits, and associated personality traits, were measured using the Autism Quotient (AQ) and the Temperament and Character Inventory (TCI), respectively. EF was examined by means of a random number generation test and a phonemic fluency test. Using appropriate dependent measures, the following EF components were examined: 1) inhibition of prepotent responding, 2) simple output inhibition, 3) working memory monitoring and updating, and 4) switching. No significant relationship was found between the AQ and each of the four components of EF. However, two TCI subscales were reliably correlated with either the working memory or the shifting component. These results were discussed in view of the concept of an autism spectrum with respect to executive abilities.
Lien vers le texte intégral (Open Access ou abonnement)
7. Mak-Fan KM, Morris D, Vidal J, Anagnostou E, Roberts W, Taylor MJ. {{White matter and development in children with an autism spectrum disorder}}. {Autism};2012 (Jun 14)
Recent research suggests that brain development follows an abnormal trajectory in children with autism spectrum disorders (ASD). The current study examined changes in diffusivity with age within defined white matter tracts in a group of typically developing children and a group of children with an ASD, aged 6 to 14 years. Age by group interactions were observed for frontal, long distant, interhemispheric and posterior tracts, for longitudinal, radial and mean diffusivity, but not for fractional anisotropy. In all cases, these measures of diffusivity decreased with age in the typically developing group, but showed little or no change in the ASD group. This supports the hypothesis of an abnormal developmental trajectory of white matter in this population, which could have profound effects on the development of neural connectivity and contribute to atypical cognitive development in children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
8. Marschik PB, Kaufmann WE, Einspieler C, Bartl-Pokorny KD, Wolin T, Pini G, Budimirovic DB, Zappella M, Sigafoos J. {{Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome}}. {Res Dev Disabil};2012 (Jun 12);33(6):1749-1756.
Rett syndrome (RTT) is a developmental disorder characterized by regression of purposeful hand skills and spoken language, although some affected children retain some ability to speech. We assessed the communicative abilities of five young girls, who were later diagnosed with the preserved speech variant of RTT, during the pre-regression period (aged 12-24 months). Videotapes, obtained by parents during routine family situations and celebrations, were analyzed to identify communicative forms and functions used by these toddlers. Non-verbal communicative forms dominated over verbal-communicative forms for six of the eight identified communication functions. Although the girls used various non-verbal forms to make requests, for example, none of the individuals were observed to make choices or request information. Early peculiarities in the speech-language domain during the first year of life became more prominent and evident during the second year of life as general differences between typical development and atypical development become more obvious in RTT. These findings highlight the importance of assessing socio-communicative forms and functions at early age in children with RTT. The results suggest that speech-language functions did not appear to play a major role in the children’s communicative attempts. We conclude that, even among children with the preserved speech variant, socio-communicative deficits are present before regression and persist after this period.
Lien vers le texte intégral (Open Access ou abonnement)
9. Marschik PB, Sigafoos J, Kaufmann WE, Wolin T, Talisa VB, Bartl-Pokorny KD, Budimirovic DB, Vollmann R, Einspieler C. {{Peculiarities in the gestural repertoire: An early marker for Rett syndrome?}}. {Res Dev Disabil};2012 (Jun 12);33(6):1715-1721.
We studied the gestures used by children with classic Rett syndrome (RTT) to provide evidence as to how this essential aspect of communicative functions develops. Seven participants with RTT were longitudinally observed between 9 and 18 months of life. The gestures used by these participants were transcribed and coded from a retrospective analysis of a video footage. Gestures were classified as deictic gestures, play schemes, and representational gestures. Results of the analysis showed that the majority of gestures observed were of deictic character. There were no gestures that could be classified as play schemes and only two (e.g., head nodding and waving bye bye) that were coded as representational or symbolic gestures. The overall repertoire of gestures, even though not necessarily delayed in it’s onset, was characterized by little variability and a restricted pragmatic functionality. We conclude that the gestural abilities in girls with RTT appear to remain limited and do not constitute a compensatory mechanism for the verbal language modality.
Lien vers le texte intégral (Open Access ou abonnement)
10. Ploog BO, Scharf A, Nelson D, Brooks PJ. {{Use of Computer-Assisted Technologies (CAT) to Enhance Social, Communicative, and Language Development in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2012 (Jun 16)
Major advances in multimedia computer technology over the past decades have made sophisticated computer games readily available to the public. This, combined with the observation that most children, including those with autism spectrum disorders (ASD), show an affinity to computers, has led researchers to recognize the potential of computer technology as an effective and efficient tool in research and treatment. This paper reviews the use of computer-assisted technology (CAT), excluding strictly internet-based approaches, to enhance social, communicative, and language development in individuals with ASD by dividing the vast literature into four main areas: language, emotion recognition, theory of mind, and social skills. Although many studies illustrate the tremendous promise of CAT to enhance skills of individuals with ASD, most lack rigorous, scientific assessment of efficacy relative to non-CAT approaches.
Lien vers le texte intégral (Open Access ou abonnement)
11. Schmeisser MJ, Ey E, Wegener S, Bockmann J, Stempel AV, Kuebler A, Janssen AL, Udvardi PT, Shiban E, Spilker C, Balschun D, Skryabin BV, Dieck S, Smalla KH, Montag D, Leblond CS, Faure P, Torquet N, Le Sourd AM, Toro R, Grabrucker AM, Shoichet SA, Schmitz D, Kreutz MR, Bourgeron T, Gundelfinger ED, Boeckers TM. {{Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2}}. {Nature};2012 (Jun 14);486(7402):256-260.
Autism spectrum disorders comprise a range of neurodevelopmental disorders characterized by deficits in social interaction and communication, and by repetitive behaviour. Mutations in synaptic proteins such as neuroligins, neurexins, GKAPs/SAPAPs and ProSAPs/Shanks were identified in patients with autism spectrum disorder, but the causative mechanisms remain largely unknown. ProSAPs/Shanks build large homo- and heteromeric protein complexes at excitatory synapses and organize the complex protein machinery of the postsynaptic density in a laminar fashion. Here we demonstrate that genetic deletion of ProSAP1/Shank2 results in an early, brain-region-specific upregulation of ionotropic glutamate receptors at the synapse and increased levels of ProSAP2/Shank3. Moreover, ProSAP1/Shank2(-/-) mutants exhibit fewer dendritic spines and show reduced basal synaptic transmission, a reduced frequency of miniature excitatory postsynaptic currents and enhanced N-methyl-d-aspartate receptor-mediated excitatory currents at the physiological level. Mutants are extremely hyperactive and display profound autistic-like behavioural alterations including repetitive grooming as well as abnormalities in vocal and social behaviours. By comparing the data on ProSAP1/Shank2(-/-) mutants with ProSAP2/Shank3alphabeta(-/-) mice, we show that different abnormalities in synaptic glutamate receptor expression can cause alterations in social interactions and communication. Accordingly, we propose that appropriate therapies for autism spectrum disorders are to be carefully matched to the underlying synaptopathic phenotype.
Lien vers le texte intégral (Open Access ou abonnement)
12. Shen MD, Shih P, Ottl B, Keehn B, Leyden KM, Gaffrey MS, Muller RA. {{Atypical lexicosemantic function of extrastriate cortex in autism spectrum disorder: Evidence from functional and effective connectivity}}. {Neuroimage};2012 (Jun 12)
Previous studies have suggested atypically enhanced activity of visual cortex during language processing in autism spectrum disorder (ASD). However, it remains unclear whether visual cortical participation reflects isolated processing within posterior regions or functional cooperation with distal brain regions, such as left inferior frontal gyrus (LIFG). We addressed this question using functional connectivity MRI (fcMRI) and structural equation modeling in 14 adolescents and adults with ASD and 14 matched typically developing (TD) participants. Data were analyzed to isolate low-frequency intrinsic fluctuations, by regressing out effects of a semantic decision task. For a right extrastriate seed derived from the strongest cluster of atypical activation in the ASD group, widespread effects of increased connectivity in prefrontal and medial frontal lobes bilaterally were observed for the ASD group, compared to the TD group. A second analysis for a seed in LIFG, derived from pooled activation effects in both groups, also yielded widespread effects of overconnectivity in the ASD group, especially in temporal lobes. Structural equation modeling showed that whereas right extrastriate cortex did not impact function of language regions (left and right IFG, left middle temporal gyrus) in the TD model, it was an integral part of a language circuit in the ASD group. These results suggest that atypical extrastriate activation during language processing in ASD reflects integrative (not isolated) processing. Furthermore, our findings are inconsistent with previous reports of functional underconnectivity in ASD, probably related to removal of task effects required to isolate intrinsic low-frequency fluctuations.
Lien vers le texte intégral (Open Access ou abonnement)
13. Theoharides TC, Asadi S, Panagiotidou S. {{A case series of a Luteolin formulation (neuroprotek) in children with autism spectrum disorders}}. {Int J Immunopathol Pharmacol};2012 (Apr-Jun);25(2):317-323.
There has been an impressive, little understood increase in cases of Autism Spectrum Disorders (ASD). The lack of any distinctive pathogenetic mechanism has hampered the development of any effective treatments. Increasing evidence indicates oxidative stress, brain inflammation, gastrointestinal (GI) dysfunction and allergic symptoms may be present in ASD patients. The flavone luteolin has anti-oxidant, anti-flammatory, anti-allergy and neuroprotective properties. Given these findings, a dietary supplement was developed with a unique mixture of luteolin with the related flavonoids quercetin and rutin in a liposomal formulation of olive kernel oil (OKO), which increases their absorption. Results are presented for children with ASD (n=37, 4-14 years old) who had not obtained any benefit from multiple other regimens and who used this formulation for at least 4 months. GI and allergy symptoms improved in about 75 percent of children, eye contact and attention in 50 percent, social interaction in 25 percent and resumption of speech in about 10 percent. There were no adverse effects. Even though these results represent an uncontrolled open case series, they are encouraging because they suggest good tolerability and potential effectiveness.
14. Thomas MA, Klaper RD. {{Psychoactive pharmaceuticals induce fish gene expression profiles associated with human idiopathic autism}}. {PLoS One};2012;7(6):e32917.
Idiopathic autism, caused by genetic susceptibility interacting with unknown environmental triggers, has increased dramatically in the past 25 years. Identifying environmental triggers has been difficult due to poorly understood pathophysiology and subjective definitions of autism. The use of antidepressants by pregnant women has been associated with autism. These and other unmetabolized psychoactive pharmaceuticals (UPPs) have also been found in drinking water from surface sources, providing another possible exposure route and raising questions about human health consequences. Here, we examined gene expression patterns of fathead minnows treated with a mixture of three psychoactive pharmaceuticals (fluoxetine, venlafaxine & carbamazepine) in dosages intended to be similar to the highest observed conservative estimates of environmental concentrations. We conducted microarray experiments examining brain tissue of fish exposed to individual pharmaceuticals and a mixture of all three. We used gene-class analysis to test for enrichment of gene sets involved with ten human neurological disorders. Only sets associated with idiopathic autism were unambiguously enriched. We found that UPPs induce autism-like gene expression patterns in fish. Our findings suggest a new potential trigger for idiopathic autism in genetically susceptible individuals involving an overlooked source of environmental contamination.
Lien vers le texte intégral (Open Access ou abonnement)
15. Won H, Lee HR, Gee HY, Mah W, Kim JI, Lee J, Ha S, Chung C, Jung ES, Cho YS, Park SG, Lee JS, Lee K, Kim D, Bae YC, Kaang BK, Lee MG, Kim E. {{Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function}}. {Nature};2012 (Jun 14);486(7402):261-265.
Autism spectrum disorder (ASD) is a group of conditions characterized by impaired social interaction and communication, and restricted and repetitive behaviours. ASD is a highly heritable disorder involving various genetic determinants. Shank2 (also known as ProSAP1) is a multi-domain scaffolding protein and signalling adaptor enriched at excitatory neuronal synapses, and mutations in the human SHANK2 gene have recently been associated with ASD and intellectual disability. Although ASD-associated genes are being increasingly identified and studied using various approaches, including mouse genetics, further efforts are required to delineate important causal mechanisms with the potential for therapeutic application. Here we show that Shank2-mutant (Shank2(-/-)) mice carrying a mutation identical to the ASD-associated microdeletion in the human SHANK2 gene exhibit ASD-like behaviours including reduced social interaction, reduced social communication by ultrasonic vocalizations, and repetitive jumping. These mice show a marked decrease in NMDA (N-methyl-D-aspartate) glutamate receptor (NMDAR) function. Direct stimulation of NMDARs with D-cycloserine, a partial agonist of NMDARs, normalizes NMDAR function and improves social interaction in Shank2(-/-) mice. Furthermore, treatment of Shank2(-/-) mice with a positive allosteric modulator of metabotropic glutamate receptor 5 (mGluR5), which enhances NMDAR function via mGluR5 activation, also normalizes NMDAR function and markedly enhances social interaction. These results suggest that reduced NMDAR function may contribute to the development of ASD-like phenotypes in Shank2(-/-) mice, and mGluR modulation of NMDARs offers a potential strategy to treat ASD.
Lien vers le texte intégral (Open Access ou abonnement)
16. Yang SY, Yoo HJ, Cho IH, Park M, Kim SA. {{Association with tryptophan hydroxylase 2 gene polymorphisms and autism spectrum disorders in Korean families}}. {Neurosci Res};2012 (Jun 12)
It was performed a family-based association study of 6 single nucleotide polymorphisms (SNPs) from the TPH2 with autism spectrum disorder (ASD) in 151 Korean trios. We found a significant association at the rs2129575 with ASD susceptibility (corrected p=0.006). Furthermore, after conducting with the quantitative scores in the Autism Diagnostic Interview-Revised, there were associations between restricted, repetitive, and stereotyped patterns of behavior (preoccupation with parts of objects or nonfunctional elements of materials) in ASD and SNPs in TPH2. These results suggest that TPH2 polymorphisms influence the phenotypic impairments of ASD and enhance ASD susceptibility.
