Pubmed du 01/08/13

Pubmed du jour

2013-08-01 12:03:50

1. Amiet C, Gourfinkel-An I, Laurent C, Carayol J, Genin B, Leguern E, Tordjman S, Cohen D. {{Epilepsy in Simplex Autism Pedigrees is Much Lower Than the Rate in Multiplex Autism Pedigrees}}. {Biol Psychiatry};2013 (Aug 1);74(3):e3-4.

Lien vers le texte intégral (Open Access ou abonnement)

2. Anthony LG, Kenworthy L, Yerys BE, Jankowski KF, James JD, Harms MB, Martin A, Wallace GL. {{Interests in high-functioning autism are more intense, interfering, and idiosyncratic than those in neurotypical development}}. {Dev Psychopathol};2013 (Aug);25(3):643-652.

Although circumscribed interests are pathognomonic with autism, much about these interests remains unknown. Using the Interests Scale (IS), this study compares interests between 76 neurotypical (NT) individuals and 109 individuals with high-functioning autism spectrum disorder (HF-ASD) matched groupwise on age, IQ, and gender ratio. Participants and their parents/caregivers completed diagnostic measures (the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule; HF-ASD only), cognitive tests (Wechsler IQ Scales), and questionnaires (the Repetitive Behavior Scale-Revised, the Behavior Rating Inventory of Executive Function, and the Social Responsiveness Scale), in addition to the IS. Consistent with previous research, HF-ASD and NT individuals did not differ in number of interest areas, but the types of interests and intensity of those interests differed considerably. Using only the IS intensity score, 81% of individuals were correctly classified (NT or HF-ASD) in a logistic regression analysis. Among individuals with HF-ASD, Interests Scale scores were significantly related to Autism Diagnostic Observation Schedule, Behavior Rating Inventory of Executive Function, Repetitive Behavior Scale-Revised, and Social Responsiveness Scale scores, but they were not related to Autism Diagnostic Interview-Revised scores, IQ, gender, age, or psychotropic medication use. The type and intensity, but not the number, of interests distinguish high-functioning individuals with ASD from NT individuals.

Lien vers le texte intégral (Open Access ou abonnement)

3. Ben-Sasson A, Soto TW, Martinez-Pedraza F, Carter AS. {{Early sensory over-responsivity in toddlers with autism spectrum disorders as a predictor of family impairment and parenting stress}}. {J Child Psychol Psychiatry};2013 (Aug);54(8):846-853.

Background: Sensory over-responsivity (SOR) affects many individuals with autism spectrum disorders (ASD), often leading to stressful encounters during daily routines. Methods: This study describes the associations between early SOR symptoms and the longitudinal course of restrictions in family life activities and parenting stress across three time-points in families raising a child with ASD (n = 174). Covariates were child diagnostic severity, emotional problems, and maternal affective symptoms. At time 1 mean chronological age was 28.5 months. Children were administered the Autism Diagnostic Observation Schedule (ADOS) and Mullen Scales of Early Learning (MSEL). Parents completed the Infant Toddler Sensory Profile (ITSP), Infant-Toddler Social Emotional Assessment (ITSEA), Beck Anxiety Index (BAI), and the Center for Epidemiologic Studies Depression Inventory (CES-D) at time 1; and the Parenting Stress Index (PSI) and Family Life Impairment Scale (FLIS) at the three annual time-points. Results: Latent Growth Curve Models indicated that higher SOR scores on the ITSP at time 1 were associated with higher initial levels of family life impairment and parenting stress and with a smaller magnitude of change over time. These associations were independent of severity of ADOS social-communication symptoms, MSEL composite score, ITSEA externalizing and anxiety symptoms, and maternal affective symptoms as measured by the BAI and CES-D. On average FLIS and PSI did not change over time, however, there was significant individual variability. Concurrently, SOR at time 1 explained 39-45% of the variance in family stress and impairment variables. Conclusions: An evaluation of SOR should be integrated into the assessment of toddlers with ASD considering their role in family life impairment and stress.

Lien vers le texte intégral (Open Access ou abonnement)

4. Cannell JJ. {{Autism, will vitamin D treat core symptoms?}}. {Med Hypotheses};2013 (Aug);81(2):195-198.

No medication exists to treat the core symptoms of autism. However, some children spontaneously improve and have optimal outcomes. Parents of autistic children who have access to swimming pool have reported summertime improvement in symptoms to me. A Japanese case report found the same summer times improvements. If the cause of that summertime improvement could be identified, it may lead to effective treatment. Vitamin D is highly seasonal with a summertime surfeit and a wintertime deficit. The hypotheses that the increased prevalence in the diagnosis of autism is due to better detection imply that parents, teachers and physicians of the 1950s, 60s, and 70s missed this non subtle diagnosis, an unlikely scenario. Recent research indicates that autism often first present itself during the second and third year of life. This is a time when most toddlers have no known sources of vitamin D. Vitamin D has remarkable antioxidant, anti-inflammatory, and anti-autoimmune properties. In vitro, in vivo, and animal experiments provide compelling data for vitamin D’s role brain proliferation, differentiation, neurotrophism, neuroprotection, neurotransmission, and neuroplasticity. It also upregulates glutathione, upregulates a suit of genes involved in DNA repair and raises the seizure threshold. Adequate, perhaps pharmacological, doses of vitamin D may have a treatment effect in the core symptoms of autism.

Lien vers le texte intégral (Open Access ou abonnement)

5. Chawarska K, Macari S, Shic F. {{Decreased spontaneous attention to social scenes in 6-month-old infants later diagnosed with autism spectrum disorders}}. {Biol Psychiatry};2013 (Aug 1);74(3):195-203.

BACKGROUND: The ability to spontaneously attend to the social overtures and activities of others is essential for the development of social cognition and communication. This ability is critically impaired in toddlers with autism spectrum disorders (ASD); however, it is not clear if prodromal symptoms in this area are already present in the first year of life of those affected by the disorder. METHODS: To examine whether 6-month-old infants later diagnosed with ASD exhibit atypical spontaneous social monitoring skills, visual responses of 67 infants at high-risk and 50 at low-risk for ASD were studied using an eye-tracking task. Based on their clinical presentation in the third year, infants were divided into those with ASD, those exhibiting atypical development, and those developing typically. RESULTS: Compared with the control groups, 6-month-old infants later diagnosed with ASD attended less to the social scene, and when they did look at the scene, they spent less time monitoring the actress in general and her face in particular. Limited attention to the actress and her activities was not accompanied by enhanced attention to objects. CONCLUSIONS: Prodromal symptoms of ASD at 6 months include a diminished ability to attend spontaneously to people and their activities. A limited attentional bias toward people early in development is likely to have a detrimental impact on the specialization of social brain networks and the emergence of social interaction patterns. Further investigation into its underlying mechanisms and role in psychopathology of ASD in the first year is warranted.

Lien vers le texte intégral (Open Access ou abonnement)

6. Cheung G, Trembath D, Arciuli J, Togher L. {{The impact of workplace factors on evidence-based speech-language pathology practice for children with autism spectrum disorders}}. {Int J Speech Lang Pathol};2013 (Aug);15(4):396-406.

Abstract Although researchers have examined barriers to implementing evidence-based practice (EBP) at the level of the individual, little is known about the effects workplaces have on speech-language pathologists’ implementation of EBP. The aim of this study was to examine the impact of workplace factors on the use of EBP amongst speech-language pathologists who work with children with Autism Spectrum Disorder (ASD). This study sought to (a) explore views about EBP amongst speech-language pathologists who work with children with ASD, (b) identify workplace factors which, in the participants’ opinions, acted as barriers or enablers to their provision of evidence-based speech-language pathology services, and (c) examine whether or not speech-language pathologists’ responses to workplace factors differed based on the type of workplace or their years of experience. A total of 105 speech-language pathologists from across Australia completed an anonymous online questionnaire. The results indicate that, although the majority of speech-language pathologists agreed that EBP is necessary, they experienced barriers to their implementation of EBP including workplace culture and support, lack of time, cost of EBP, and the availability and accessibility of EBP resources. The barriers reported by speech-language pathologists were similar, regardless of their workplace (private practice vs organization) and years of experience.

Lien vers le texte intégral (Open Access ou abonnement)

7. Chiang HM, Cheung YK, Li H, Tsai LY. {{Factors associated with participation in employment for high school leavers with autism}}. {J Autism Dev Disord};2013 (Aug);43(8):1832-1842.

This study aimed to identify the factors associated with participation in employment for high school leavers with autism. A secondary data analysis of the National Longitudinal Transition Study 2 (NLTS2) data was performed. Potential factors were assessed using a weighted multivariate logistic regression. This study found that annual household income, parental education, gender, social skills, whether the child had intellectual disability, whether the child graduated from high school, whether the child received career counseling during high school, and whether the child’s school contacted postsecondary vocational training programs or potential employers were the significant factors associated with participation in employment. These findings may have implications for professionals who provide transition services and post-secondary programs for individuals with autism.

Lien vers le texte intégral (Open Access ou abonnement)

8. Conner CM, Maddox BB, White SW. {{Parents’ state and trait anxiety: relationships with anxiety severity and treatment response in adolescents with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Aug);43(8):1811-1818.

Comorbid anxiety is common among children with Autism Spectrum Disorder (ASD), and parents of children with ASD are more likely to have anxiety disorders. This study investigated the relationship between parents’ state and trait anxiety and parent-reported internalizing and externalizing symptoms among adolescents (n = 30) with ASD, as well as the relationship of parents’ anxiety symptoms and adolescent treatment response in the context of a randomized controlled trial. Parental state anxiety correlated with severity of adolescent anxiety, and trait anxiety in parents correlated with parent-reported adolescent internalizing and externalizing symptoms. Also, parents of adolescent treatment responders experienced a decrease in their own trait anxiety. Findings highlight the importance of considering parental anxiety when targeting anxiety among youth with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

9. Daluwatte C, Miles JH, Christ SE, Beversdorf DQ, Takahashi TN, Yao G. {{Atypical pupillary light reflex and heart rate variability in children with autism spectrum disorder}}. {J Autism Dev Disord};2013 (Aug);43(8):1910-1925.

We investigated pupillary light reflex (PLR) in 152 children with ASD, 116 typically developing (TD) children, and 36 children with non-ASD neurodevelopmental disorders (NDDs). Heart rate variability (HRV) was measured simultaneously to study potential impairments in the autonomic nervous system (ANS) associated with ASD. The results showed that the ASD group had significantly longer PLR latency, reduced relative constriction amplitude, and shorter constriction/redilation time than those of the TD group. Similar atypical PLR parameters were observed in the NDD group. A significant age effect on PLR latency was observed in children younger than 9 years in the TD group, but not in the ASD and NDD groups. Atypical HRV parameters were observed in the ASD and NDD groups. A significant negative correlation existed between the PLR constriction amplitude and average heart rate in children with an ASD, but not in children with typical development.

Lien vers le texte intégral (Open Access ou abonnement)

10. Destefano F, Price CS, Weintraub ES. {{Increasing exposure to antibody-stimulating proteins and polysaccharides in vaccines is not associated with risk of autism}}. {J Pediatr};2013 (Aug);163(2):561-567.

OBJECTIVE: To evaluate the association between autism and the level of immunologic stimulation received from vaccines administered during the first 2 years of life. STUDY DESIGN: We analyzed data from a case-control study conducted in 3 managed care organizations (MCOs) of 256 children with autism spectrum disorder (ASD) and 752 control children matched on birth year, sex, and MCO. In addition to the broader category of ASD, we also evaluated autistic disorder and ASD with regression. ASD diagnoses were validated through standardized in-person evaluations. Exposure to total antibody-stimulating proteins and polysaccharides from vaccines was determined by summing the antigen content of each vaccine received, as obtained from immunization registries and medical records. Potential confounding factors were ascertained from parent interviews and medical charts. Conditional logistic regression was used to assess associations between ASD outcomes and exposure to antigens in selected time periods. RESULTS: The aOR (95% CI) of ASD associated with each 25-unit increase in total antigen exposure was 0.999 (0.994-1.003) for cumulative exposure to age 3 months, 0.999 (0.997-1.001) for cumulative exposure to age 7 months, and 0.999 (0.998-1.001) for cumulative exposure to age 2 years. Similarly, no increased risk was found for autistic disorder or ASD with regression. CONCLUSION: In this study of MCO members, increasing exposure to antibody-stimulating proteins and polysaccharides in vaccines during the first 2 years of life was not related to the risk of developing an ASD.

Lien vers le texte intégral (Open Access ou abonnement)

11. Domes G, Heinrichs M, Kumbier E, Grossmann A, Hauenstein K, Herpertz SC. {{Effects of intranasal oxytocin on the neural basis of face processing in autism spectrum disorder}}. {Biol Psychiatry};2013 (Aug 1);74(3):164-171.

BACKGROUND: Autism spectrum disorder (ASD) is associated with altered face processing and decreased activity in brain regions involved in face processing. The neuropeptide oxytocin has been shown to promote face processing and modulate brain activity in healthy adults. The present study examined the effects of oxytocin on the neural basis of face processing in adults with Asperger syndrome (AS). METHODS: A group of 14 individuals with AS and a group of 14 neurotypical control participants performed a face-matching and a house-matching task during functional magnetic resonance imaging. The effects of a single dose of 24 IU intranasally administered oxytocin were tested in a randomized, placebo-controlled, within-subject, cross-over design. RESULTS: Under placebo, the AS group showed decreased activity in the right amygdala, fusiform gyrus, and inferior occipital gyrus compared with the control group during face processing. After oxytocin treatment, right amygdala activity to facial stimuli increased in the AS group. CONCLUSIONS: These findings indicate that oxytocin increases the saliency of social stimuli and in ASD and suggest that oxytocin might promote face processing and eye contact in individuals with ASD as prerequisites for neurotypical social interaction.

Lien vers le texte intégral (Open Access ou abonnement)

12. Dotson WH, Richman DM, Abby L, Thompson S, Plotner A. {{Teaching skills related to self-employment to adults with developmental disabilities: an analog analysis}}. {Res Dev Disabil};2013 (Aug);34(8):2336-2350.

Employment opportunities for people with developmental disabilities (DD) have improved in the last several decades. There is increasing focus on helping people with DD sample more diverse employment options, including running their own businesses. The present study (1) evaluated the effects of a well-established behavioral teaching procedure on the acquisition of a sample of three broad classes of skills related to self-employment (worker, supervisor, and clerical work) in young adults with DD within an analog recycling business, and (2) investigated the extension of that treatment to the natural environment while working in isolation or in peer pairs. Results suggest that the teaching procedure was effective in teaching three broad classes of skills related to many self-employment possibilities, the skills generalized to the natural environment, and peer pairs supported each other to complete tasks with a high degree of accuracy required to run a recycling business. This study represents an initial demonstration that adults with DD can learn skills required to run their own business.

Lien vers le texte intégral (Open Access ou abonnement)

13. Dziembowska M, Pretto DI, Janusz A, Kaczmarek L, Leigh MJ, Gabriel N, Durbin-Johnson B, Hagerman RJ, Tassone F. {{High MMP-9 activity levels in fragile X syndrome are lowered by minocycline}}. {Am J Med Genet A};2013 (Aug);161(8):1897-1903.

Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by lack of the FMR1 protein, FMRP, a translational repressor. Its absence leads to up-regulation of locally translated proteins involved in synaptic transmission and plasticity, including the matrix metalloproteinase-9 (MMP-9). In the Fmr1 knock-out (KO), a mouse model of FXS, an abnormal elevated expression of MMP-9 in the brain was pharmacologically down-regulated after treatment with the tetracycline derivative minocycline. Moreover, the rescue of immature dendritic spine morphology and a significant improvement of abnormal behavior were associated with down-regulation of MMP-9. Here, we report on high plasma activity of MMP-9 in individuals with FXS. In addition, we investigate MMP-9 changes in patients with FXS who have gone through a minocycline controlled clinical trial and correlate MMP-9 activity to clinical observations. The results of this study suggest that, in humans, activity levels of MMP-9 are lowered by minocycline and that, in some cases, changes in MMP-9 activity are positively associated with improvement based on clinical measures. (c) 2013 Wiley Periodicals, Inc.

Lien vers le texte intégral (Open Access ou abonnement)

14. Elison JT, Paterson SJ, Wolff JJ, Reznick JS, Sasson NJ, Gu H, Botteron KN, Dager SR, Estes AM, Evans AC, Gerig G, Hazlett HC, Schultz RT, Styner M, Zwaigenbaum L, Piven J. {{White Matter Microstructure and Atypical Visual Orienting in 7-Month-Olds at Risk for Autism}}. {Am J Psychiatry};2013 (Mar 20)

OBJECTIVE The authors sought to determine whether specific patterns of oculomotor functioning and visual orienting characterize 7-month-old infants who later meet criteria for an autism spectrum disorder (ASD) and to identify the neural correlates of these behaviors. METHOD Data were collected from 97 infants, of whom 16 were high-familial-risk infants later classified as having an ASD, 40 were high-familial-risk infants who did not later meet ASD criteria (high-risk negative), and 41 were low-risk infants. All infants underwent an eye-tracking task at a mean age of 7 months and a clinical assessment at a mean age of 25 months. Diffusion-weighted imaging data were acquired for 84 of the infants at 7 months. Primary outcome measures included average saccadic reaction time in a visually guided saccade procedure and radial diffusivity (an index of white matter organization) in fiber tracts that included corticospinal pathways and the splenium and genu of the corpus callosum. RESULTS Visual orienting latencies were longer in 7-month-old infants who expressed ASD symptoms at 25 months compared with both high-risk negative infants and low-risk infants. Visual orienting latencies were uniquely associated with the microstructural organization of the splenium of the corpus callosum in low-risk infants, but this association was not apparent in infants later classified as having an ASD. CONCLUSIONS Flexibly and efficiently orienting to salient information in the environment is critical for subsequent cognitive and social-cognitive development. Atypical visual orienting may represent an early prodromal feature of an ASD, and abnormal functional specialization of posterior cortical circuits directly informs a novel model of ASD pathogenesis.

Lien vers le texte intégral (Open Access ou abonnement)

15. Elsabbagh M, Fernandes J, Jane Webb S, Dawson G, Charman T, Johnson MH. {{Disengagement of Visual Attention in Infancy is Associated with Emerging Autism in Toddlerhood}}. {Biol Psychiatry};2013 (Aug 1);74(3):189-194.

BACKGROUND: Early emerging characteristics of visual orienting have been associated with a wide range of typical and atypical developmental outcomes. In the current study, we examined the development of visual disengagement in infants at risk for autism. METHODS: We measured the efficiency of disengaging from a central visual stimulus to orient to a peripheral one in a cohort of 104 infants with and without familial risk for autism by virtue of having an older sibling with autism. RESULTS: At 7 months of age, disengagement was not robustly associated with later diagnostic outcomes. However, by 14 months, longer latencies to disengage in the subset of the risk group later diagnosed with autism was observed relative to other infants at risk and the low-risk control group. Moreover, between 7 months and 14 months, infants who were later diagnosed with autism at 36 months showed no consistent increases in the speed and flexibility of visual orienting. However, the latter developmental effect also characterized those infants who exhibited some form of developmental concerns (but not meeting criteria for autism) at 36 months. CONCLUSIONS: Infants who develop autism or other developmental concerns show atypicality in the development of visual attention skills from the first year of life.

Lien vers le texte intégral (Open Access ou abonnement)

16. Falter CM, Braeutigam S, Nathan R, Carrington S, Bailey AJ. {{Enhanced access to early visual processing of perceptual simultaneity in autism spectrum disorders}}. {J Autism Dev Disord};2013 (Aug);43(8):1857-1866.

We compared judgements of the simultaneity or asynchrony of visual stimuli in individuals with autism spectrum disorders (ASD) and typically-developing controls using Magnetoencephalography (MEG). Two vertical bars were presented simultaneously or non-simultaneously with two different stimulus onset delays. Participants with ASD distinguished significantly better between real simultaneity (0 ms delay between two stimuli) and apparent simultaneity (17 ms delay between two stimuli) than controls. In line with the increased sensitivity, event-related MEG activity showed increased differential responses for simultaneity versus apparent simultaneity. The strongest evoked potentials, observed over occipital cortices at about 130 ms, were correlated with performance differences in the ASD group only. Superior access to early visual brain processes in ASD might underlie increased resolution of visual events in perception.

Lien vers le texte intégral (Open Access ou abonnement)

17. Fisher MH, Moskowitz AL, Hodapp RM. {{Differences in Social Vulnerability among Individuals with Autism Spectrum Disorder, Williams Syndrome, and Down Syndrome}}. {Res Autism Spectr Disord};2013 (Aug 1);7(8):931-937.

Although individuals with disabilities are at increased risk of victimization, few studies examine persons with different disability conditions to determine whether distinctive cognitive-behavioral profiles are associated with different levels of social vulnerability. To determine the differences in social vulnerability and experiences of victimization, caregiver responses to a Social Vulnerability Questionnaire were examined for 103 caregivers of individuals with autism spectrum disorder (ASD), Williams syndrome (WS), and Down syndrome (DS). Although all three groups experienced similar rates and types of victimization, the specific correlates of social vulnerability differed by disability. Individuals with ASD displayed less risk awareness and had less social protection; those with WS were rated higher on risk factors related to perceived vulnerability and parental independence; and those with DS had less risk awareness and were perceived to be more vulnerable. Safety interventions should be tailored to address each group’s specific correlates of social vulnerability.

Lien vers le texte intégral (Open Access ou abonnement)

18. Flight MH. {{Neurological disorders: Loss of MECP2 bridge in Rett}}. {Nat Rev Neurosci};2013 (Aug);14(8):520.

Lien vers le texte intégral (Open Access ou abonnement)

19. Floris DL, Chura LR, Holt RJ, Suckling J, Bullmore ET, Baron-Cohen S, Spencer MD. {{Psychological Correlates of Handedness and Corpus Callosum Asymmetry in Autism: The left Hemisphere Dysfunction Theory Revisited}}. {J Autism Dev Disord};2013 (Aug);43(8):1758-1772.

Rightward cerebral lateralization has been suggested to be involved in the neuropathology of autism spectrum conditions. We investigated functional and neuroanatomical asymmetry, in terms of handedness and corpus callosum measurements in male adolescents with autism, their unaffected siblings and controls, and their associations with executive dysfunction and symptom severity. Adolescents with autism did not differ from controls in functional asymmetry, but neuroanatomically showed the expected pattern of stronger rightward lateralization in the posterior and anterior midbody based on their hand-preference. Measures of symptom severity were related to rightward asymmetry in three subregions (splenium, posterior midbody and rostral body). We found the opposite pattern for the isthmus and rostrum with better cognitive and less severe clinical scores associated with rightward lateralization.

Lien vers le texte intégral (Open Access ou abonnement)

20. Franco JH, Davis BL, Davis JL. {{Increasing social interaction using prelinguistic milieu teaching with nonverbal school-age children with autism}}. {Am J Speech Lang Pathol};2013 (Aug);22(3):489-502.

PURPOSE: Children with autism display marked deficits in initiating and maintaining social interaction. Intervention using play routines can create a framework for developing and maintaining social interaction between these children and their communication partners. METHOD: Six nonverbal 5- to 8-year-olds with autism were taught to engage in social interaction within salient play routines. Prelinguistic milieu teaching (PMT) techniques were used to teach the children to communicate intentionally during these routines. Intervention focused on the children’s social interaction with an adult. The effects of intervention were evaluated using a multiple baseline design across participants. RESULTS: At study onset, the participants demonstrated few consistent interaction with others. With intervention, all of the children improved their ability to sustain social interactions, as evidenced by an increase in the number of communicative interactions during play routines. Participants also increased their overall rate of initiated intentional communication. CONCLUSION: Development of intentional prelinguistic communication within salient social routines creates opportunities for an adult to teach social and communication skills to young school-age children with autism who function at a nonverbal level.

Lien vers le texte intégral (Open Access ou abonnement)

21. Gardner J, Mulry CM, Chalik S. {{Considering college?: adolescents with autism and learning disorders participate in an on-campus service-learning program}}. {Occup Ther Health Care};2012 (Oct);26(4):257-269.

ABSTRACT This paper presents an example of successful collaboration between an entry-level occupational therapy program and school-based setting that resulted in innovative programming for high school students living with autism and learning disorders. The two-day programming provided opportunity for high school students (n = 30) to practice a variety of life skills on the university campus as a way to support transition to secondary education and learning in the natural environment. Occupational therapy master’s students developed and implemented the programming as a service-learning experience. Key factors for successful collaboration and outcomes, as well as considerations for future programming and research, are outlined.

Lien vers le texte intégral (Open Access ou abonnement)

22. Gibbs V, Toth-Cohen S. {{Family-centered occupational therapy and telerehabilitation for children with autism spectrum disorders}}. {Occup Ther Health Care};2011 (Oct);25(4):298-314.

ABSTRACT The purpose of this pilot project was to explore the use of telerehabilitation for collaborative occupational therapy sessions with parents of children with autism spectrum disorders (ASD). The aim was to improve carryover of therapeutic strategies by parents to address children’s sensory modulation in their natural environments. Four families participated in clinic-based sessions with the therapist followed by online sessions for six weeks. Data consisted of family schedules, sensory diets, archived webcam sessions, and Sensory Processing Measure Home Form scores before and after initiation of the telerehabilitation sessions. Results demonstrated the potential for using telerehabilitation as a tool to provide collaborative occupational therapy in order to improve carryover of home programs for children with ASD by providing opportunities for parents to ask questions, review sensory techniques, and understand the therapist’s clinical reasoning.

Lien vers le texte intégral (Open Access ou abonnement)

23. Guthrie W, Swineford LB, Wetherby AM, Lord C. {{Comparison of DSM-IV and DSM-5 Factor Structure Models for Toddlers With Autism Spectrum Disorder}}. {J Am Acad Child Adolesc Psychiatry};2013 (Aug);52(8):797-805 e792.

OBJECTIVE: The present study examined the factor structure of autism symptoms in toddlers, to aid understanding of the phenotype during the developmental period that represents the earliest manifestations of autism symptoms. This endeavor is particularly timely, given changes in symptom structure from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) to the recently released Fifth Edition (DSM-5). METHOD: Factor structure was examined in a sample of toddlers between 12 and 30 months of age (mean = 20.37 months, SD = 3.32 months) diagnosed with autism spectrum disorder (ASD) and recruited from community settings or referred for evaluation (N = 237). Confirmatory factor analyses were conducted comparing the relative fit of 4 distinct, previously proposed and validated models: DSM-5, DSM-IV, 1-factor, and an alternative 3-factor model proposed by van Lang et al. RESULTS: Findings revealed that the 1-factor model provided the poorest fit, followed by the DSM-IV model and the van Lang et al. model. The DSM-5 model provided the best fit to the data relative to other models and good absolute fit. Indicators for the confirmatory factor analyses, drawn from the Autism Diagnostic Observation Schedule-Toddler Module (ADOS-T), loaded strongly onto the DSM-5 Social Communication and Social Interaction factor and more variably onto the DSM-5 Restricted/Repetitive Language and Behavior factor. CONCLUSIONS: Results indicate that autism symptoms in toddlers, as measured by the ADOS-T, are separable and best deconstructed into the 2-factor DSM-5 structure, supporting the reorganization of symptoms in the DSM-5. Consistency of the present results in toddlers with previous studies in older children and adults suggests that the structure of autism symptoms may be similar throughout development.

Lien vers le texte intégral (Open Access ou abonnement)

24. Hagerman R, Hagerman P. {{Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome}}. {Lancet Neurol};2013 (Aug);12(8):786-798.

Fragile X syndrome, the most common heritable form of cognitive impairment, is caused by epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (>200 repeats) of a non-coding CGG-repeat element. Smaller, so-called premutation expansions (55-200 repeats) can cause a family of neurodevelopmental phenotypes (attention deficit hyperactivity disorder, autism spectrum disorder, seizure disorder) and neurodegenerative (fragile X-associated tremor/ataxia syndrome [FXTAS]) phenotypes through an entirely distinct molecular mechanism involving increased FMR1 mRNA production and toxicity. Results of basic cellular, animal, and human studies have helped to elucidate the underlying RNA toxicity mechanism, while clinical research is providing a more nuanced picture of the range of clinical manifestations. Advances of knowledge on both mechanistic and clinical fronts are driving new approaches to targeted treatment, but two important necessities are emerging: to define the extent to which the mechanisms contributing to FXTAS also contribute to other neurodegenerative and medical disorders, and to redefine FXTAS in view of its differing presentations and associated features.

Lien vers le texte intégral (Open Access ou abonnement)

25. Hahr JY. {{Iatrogenic autism}}. {Med Hypotheses};2013 (Aug);81(2):251-252.

Autism as we know it, is caused iatrogenically and occurs reportedly one in 88 live birth [3]. Now national survey pegs autism prevalence one in 50 school-age children and the incidence is rising much fast in recent years. The author is hypothesizing idiopathic autism is caused by feeding of infant formula. Majorities of formula in the world are milk based and the molecular weight of the cow’s milk is much higher than that of human breast milk. These increased solutes contributes to increased osmolality of the environment of the newborn infant, is directly affecting hemodynamics of normal homeostasis of the developing human brain cells. Formula makers fortified new substances in the process of formula making whenever they found previous unknown substances in the breast milk, for past several decades. When those solid substances were added in the process of formula making to make 20cal/oz of infant formula, this resulted displacing free water in the formula. When new substances were added, same amount of free water has to be displaced from the formula. That is why we are seeing more autism in recent years, compared to previous several decades.

Lien vers le texte intégral (Open Access ou abonnement)

26. Herbert MR, Buckley JA. {{Autism and dietary therapy: case report and review of the literature}}. {J Child Neurol};2013 (Aug);28(8):975-982.

We report the history of a child with autism and epilepsy who, after limited response to other interventions following her regression into autism, was placed on a gluten-free, casein-free diet, after which she showed marked improvement in autistic and medical symptoms. Subsequently, following pubertal onset of seizures and after failing to achieve full seizure control pharmacologically she was advanced to a ketogenic diet that was customized to continue the gluten-free, casein-free regimen. On this diet, while still continuing on anticonvulsants, she showed significant improvement in seizure activity. This gluten-free casein-free ketogenic diet used medium-chain triglycerides rather than butter and cream as its primary source of fat. Medium-chain triglycerides are known to be highly ketogenic, and this allowed the use of a lower ratio (1.5:1) leaving more calories available for consumption of vegetables with their associated health benefits. Secondary benefits included resolution of morbid obesity and improvement of cognitive and behavioral features. Over the course of several years following her initial diagnosis, the child’s Childhood Autism Rating Scale score decreased from 49 to 17, representing a change from severe autism to nonautistic, and her intelligence quotient increased 70 points. The initial electroencephalogram after seizure onset showed lengthy 3 Hz spike-wave activity; 14 months after the initiation of the diet the child was essentially seizure free and the electroencephalogram showed only occasional 1-1.5 second spike-wave activity without clinical accompaniments.

Lien vers le texte intégral (Open Access ou abonnement)

27. Heulens I, Suttie M, Postnov A, De Clerck N, Perrotta CS, Mattina T, Faravelli F, Forzano F, Frank Kooy R, Hammond P. {{Craniofacial characteristics of fragile X syndrome in mouse and man}}. {Eur J Hum Genet};2013 (Aug);21(8):816-823.

For a disorder as common as fragile X syndrome, the most common hereditary form of cognitive impairment, the facial features are relatively ill defined. An elongated face and prominent ears are the most commonly accepted dysmorphic hallmarks. We analysed 3D facial photographs of 51 males and 15 females with full FMR1 mutations and 9 females with a premutation using dense-surface modelling techniques and a new technique that forms a directed graph with normalized face shapes as nodes and edges linking those with closest dysmorphism. In addition to reconfirming known features, we confirmed the occurrence of some at an earlier age than previously recorded. We also identified as yet unrecorded facial characteristics such as reduced facial depth, hypoplasticity of the nasal bone-cartilage interface and narrow mid-facial width exaggerating ear prominence. As no consistent craniofacial abnormalities had been reported in animal models, we analysed micro-CT images of the fragile X mouse model. Results indicated altered dimensions in the mandible and both outer and inner skull, with the latter potentially reflecting differences in neuroanatomy. We extrapolated the mouse results to face shape differences of the human fragile X face.

Lien vers le texte intégral (Open Access ou abonnement)

28. 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).

Lien vers le texte intégral (Open Access ou abonnement)

29. 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.

Lien vers le texte intégral (Open Access ou abonnement)

30. Hutchins TL, Prelock PA. {{The social validity of Social Stories for supporting the behavioural and communicative functioning of children with autism spectrum disorder}}. {Int J Speech Lang Pathol};2013 (Aug);15(4):383-395.

Abstract This study examines the social validity of a family-centred collaborative approach to developing Social Stories to support the behavioural and communicative functioning of children with autism spectrum disorder (ASD). Twenty children with Pervasive Developmental Disorder (PDD)/Autism, PDD-Not Otherwise Specified, or Asperger’s Disorder (aged 4-12 years) participated in a multiple baseline design across behaviours with a 6-week follow-up. The effects of behaviour stories (to reduce problem behaviours) and communication stories (to facilitate communication) as assessed by parental subjective perceptions of child functioning were evaluated and compared. Using daily parental ratings, behaviour stories were deemed effective for 11 of 17 stories (64.7%), whereas communication stories were deemed effective for 10 of 19 stories (52.6%), with great variability in effect size for both. Results also indicated variability in performance across specific story targets, although parents’ perceived effects of Social Stories were not linked to any known child characteristics. This study argues that intervention using Social Stories to address behavioural and communicative functioning can yield socially valid outcomes across a range of child characteristics and intervention targets. Implications for clinical practice and how present methodological limitations can be addressed in future research are considered.

Lien vers le texte intégral (Open Access ou abonnement)

31. Hutman T. {{From attention to interaction: the emergence of autism during infancy}}. {Biol Psychiatry};2013 (Aug 1);74(3):162-163.

Lien vers le texte intégral (Open Access ou abonnement)

32. Jacobs DW, Richdale AL. {{Predicting literacy in children with a high-functioning autism spectrum disorder}}. {Res Dev Disabil};2013 (Aug);34(8):2379-2390.

The most commonly reported reading profile for children with a high-functioning autism spectrum disorder (HFASD) is one of intact decoding combined with reduced reading comprehension. Whether or not the variables that predict decoding and reading comprehension for children with a HFASD are exactly the same as those identified for a non-ASD population is unknown. Therefore, the ability of cognition, phonological processing, oral language, and vision to predict decoding and reading comprehension was investigated. Regression analysis revealed that cognition, phonological processing, and syntax predicted decoding and reading comprehension for the HFASD and non-ASD groups. One notable difference was that semantics predicted literacy for the non-ASD children but not their HFASD peers.

Lien vers le texte intégral (Open Access ou abonnement)

33. Joshi G, Biederman J, Wozniak J, Goldin RL, Crowley D, Furtak S, Lukas SE, Gonenc A. {{Magnetic resonance spectroscopy study of the glutamatergic system in adolescent males with high-functioning autistic disorder: a pilot study at 4T}}. {Eur Arch Psychiatry Clin Neurosci};2013 (Aug);263(5):379-384.

The pilot study aimed at examining the neural glutamatergic activity in autism. Seven adolescent males (mean age: 14 +/- 1.8; age range: 12-17 years) with intact intellectual capacity (mean IQ: 108 +/- 14.26; IQ range: 85-127) suffering from autistic disorder and an equal number of age- and sex-matched healthy controls underwent a two-dimensional magnetic resonance spectroscopy scan at 4T. Results indicated significantly high glutamate (Glu) levels in the anterior cingulate cortex of autistic disorder versus control subjects (paired t test p = 0.01) and a trend for lower Glu in the right medial temporal lobe, which was not statistically different between the groups (paired t test p = 0.06). These preliminary findings support the glutamatergic dysregulation hypothesis in autism and need to be replicated in a larger sample.

Lien vers le texte intégral (Open Access ou abonnement)

34. Kaat AJ, Gadow KD, Lecavalier L. {{Psychiatric symptom impairment in children with autism spectrum disorders}}. {J Abnorm Child Psychol};2013 (Aug);41(6):959-969.

The general aim of this study was to examine the relation of psychiatric symptom-induced impairment with other common parameters of mental health in children with autism spectrum disorder (ASD). Prevalence rates are used to illustrate the implications of different criteria for caseness. Parents/teachers completed DSM-IV-referenced rating scales for 6-12 year old children with ASD (N = 115), the majority of whom were boys (86 %). Most children were rated by parents (81 %) or teachers (86 %) as being socially or academically impaired by symptoms of at least one psychiatric disorder. The most common impairing conditions (parent/teacher) were attention-deficit/hyperactivity disorder (67 %/71 %), oppositional defiant disorder (35 %/33 %), and anxiety disorder (47 %/34 %), and the combined rates based on either informant were generally much higher. Agreement between symptom cutoff and impairment cutoff was acceptable for most disorders. A larger percentage of youth were impaired by psychiatric symptoms than met symptom cutoff criteria, and the discrepancy between impairment cutoff and clinical cutoff (impairment cutoff plus symptom cutoff) was even greater. Impairment was moderately to highly correlated with both number and severity of symptoms. Parents’ and teachers’ ratings indicated little agreement as to whether a child was impaired. Findings for youth with ASD were similar to non ASD child psychiatry outpatient referrals, but clearly different in several ways from comparable studies of community-based samples.

Lien vers le texte intégral (Open Access ou abonnement)

35. Kent JM, Kushner S, Ning X, Karcher K, Ness S, Aman M, Singh J, Hough D. {{Risperidone dosing in children and adolescents with autistic disorder: a double-blind, placebo-controlled study}}. {J Autism Dev Disord};2013 (Aug);43(8):1773-1783.

Efficacy and safety of 2 risperidone doses were evaluated in children and adolescents with autism. Patients (N = 96; 5-17 years), received risperidone (low-dose: 0.125 mg/day [20 to <45 kg], 0.175 mg/day [>45 kg] or high-dose: 1.25 mg/day [20 to <45 kg], 1.75 mg/day [>45 kg]) or placebo. Mean baseline (range 27-29) to endpoint change in Aberrant Behavior Checklist-Irritability (primary endpoint) was significantly greater in the high-dose-(-12.4 [6.5]; p < 0.001), but not low-dose (-7.4 [8.1]; p = 0.164) group, versus placebo (-3.5 [10.7]). Clinical Global Impressions-Severity and Children’s Yale-Brown Obsessive Compulsive Scale scores improved significantly only in the high-dose group, consistent with ABC-I results. Somnolence, sedation and increased appetite occurred more frequently in high-versus low-dose groups. Overall, increased appetite occurred most frequently.

Lien vers le texte intégral (Open Access ou abonnement)

36. Kern JK, Geier DA, Adams JB, Troutman MR, Davis GA, King PG, Geier MR. {{Handgrip strength in autism spectrum disorder compared with controls}}. {J Strength Cond Res};2013 (Aug);27(8):2277-2281.

Kern, JK, Geier, DA, Adams, JB, Troutman, MR, Davis, GA, King, PG, and Geier, MR. Handgrip strength in autism spectrum disorder compared with controls. J Strength Cond Res 27(8): 2277-2281, 2013-The study examined handgrip strength in participants diagnosed with an autism spectrum disorder (ASD) as compared with neurotypical children. Thirty-three children, aged 2-17 years, with an ASD and 33 gender-, race-, and age-matched neurotypical controls were tested using a handgrip dynamometer. The handgrip strength in participants with an ASD was significantly (p < 0.0001) lower than the neurotypical controls. The mean handgrip strength was 39.4 +/- 17.7 kPa in children with ASD and 65.1 +/- 26.7 kPa in controls. The results support the hypothesis that children with an ASD have significantly poorer handgrip strength as compared with neurotypical children. Because the handheld dynamometer has been shown to be a valid tool for measuring overall muscle strength, the results suggest that children with ASD have muscle weakness. Future studies are needed to determine the extent of muscle weakness in ASD, its ramifications, and the possible benefits of muscle strengthening. The present study provides support for the use of handgrip strength as a tool for the assessment of targeted treatment in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

37. 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}}. {Mol Med Rep};2013 (Aug);8(2):327-334.

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.

Lien vers le texte intégral (Open Access ou abonnement)

38. Langdon PE, Murphy GH, Wilson E, Shepstone L, Fowler D, Heavens D, Malovic A, Russell A. {{Asperger syndrome and anxiety disorders (PAsSA) treatment trial: a study protocol of a pilot, multicentre, single-blind, randomised crossover trial of group cognitive behavioural therapy}}. {BMJ Open};2013;3(7)

INTRODUCTION: A number of studies have established that children, adolescents and adults with Asperger syndrome (AS) and high functioning autism (HFA) have significant problems with anxiety. Cognitive behavioural therapy (CBT) is an effective treatment for anxiety in a variety of clinical populations. There is a growing interest in exploring the effectiveness of CBT for people with AS who have mental health problems, but currently there are no known clinical trials involving adults with AS or HFA. Studies with children who have AS have reported some success. The current study aims to examine whether modified group CBT for clinically significant anxiety in an AS population is likely to be efficacious. METHODS AND ANALYSIS: This study is a randomised, single-blind crossover trial. At least 36 individuals will be recruited and randomised into a treatment arm or a waiting-list control arm. During treatment, individuals will receive 3 sessions of individual CBT, followed by 21 sessions of group CBT. Primary outcome measures focus on anxiety. Secondary outcome measures focus on everyday social and psychiatric functioning, additional measures of anxiety and fear, depression, health-related quality of life and treatment cost. Assessments will be administered at pregroup and postgroup and at follow-up by researchers who are blinded to group allocation. The trial aims to find out whether or not psychological treatments for anxiety can be adapted and used to successfully treat the anxiety experienced by people with AS. Furthermore, we aim to determine whether this intervention represents good value for money. ETHICS AND DISSEMINATION: The trial received a favourable ethical opinion from a National Health Service (NHS) Research Ethics Committee. All participants provided written informed consent. Findings will be shared with all trial participants, and the general public, as well as the scientific community. TRIAL REGISTRATION: ISRCTN 30265294 (DOI: 10.1186/ISRCTN30265294), UKCRN 8370.

Lien vers le texte intégral (Open Access ou abonnement)

39. Lindsay CJ, Moore DW, Anderson A, Dillenburger K. {{The role of imitation in video-based interventions for children with autism}}. {Dev Neurorehabil};2013 (Aug);16(4):283-289.

Objective: The aim of this paper is to bridge the gap between the corpus of imitation research and video-based intervention (VBI) research, and consider the impact imitation skills may be having on VBI outcomes and highlight potential areas for improving efficacy. Method: A review of the imitation literature was conducted focusing on imitation skill deficits in children with autism followed by a critical review of the video modelling literature focusing on pre-intervention assessment of imitation skills and the impact imitation deficits may have on VBI outcomes. Results: Children with autism have specific imitation deficits, which may impact VBI outcomes. Imitation training or procedural modifications made to videos may accommodate for these deficits. Conclusions: There are only six studies where VBI researchers have taken pre-intervention imitation assessments using an assortment of imitation measures. More research is required to develop a standardised multi-dimensional imitation assessment battery that can better inform VBI.

Lien vers le texte intégral (Open Access ou abonnement)

40. Long SS. {{No association between the number of vaccine antigens and risk of autism spectrum disorders}}. {J Pediatr};2013 (Aug);163(2):309-311.

Lien vers le texte intégral (Open Access ou abonnement)

41. Lynch CJ, Uddin LQ, Supekar K, Khouzam A, Phillips J, Menon V. {{Default mode network in childhood autism: posteromedial cortex heterogeneity and relationship with social deficits}}. {Biol Psychiatry};2013 (Aug 1);74(3):212-219.

BACKGROUND: The default mode network (DMN), a brain system anchored in the posteromedial cortex, has been identified as underconnected in adults with autism spectrum disorder (ASD). However, to date there have been no attempts to characterize this network and its involvement in mediating social deficits in children with ASD. Furthermore, the functionally heterogeneous profile of the posteromedial cortex raises questions regarding how altered connectivity manifests in specific functional modules within this brain region in children with ASD. METHODS: Resting-state functional magnetic resonance imaging and an anatomically informed approach were used to investigate the functional connectivity of the DMN in 20 children with ASD and 19 age-, gender-, and IQ-matched typically developing (TD) children. Multivariate regression analyses were used to test whether altered patterns of connectivity are predictive of social impairment severity. RESULTS: Compared with TD children, children with ASD demonstrated hyperconnectivity of the posterior cingulate and retrosplenial cortices with predominately medial and anterolateral temporal cortex. In contrast, the precuneus in ASD children demonstrated hypoconnectivity with visual cortex, basal ganglia, and locally within the posteromedial cortex. Aberrant posterior cingulate cortex hyperconnectivity was linked with severity of social impairments in ASD, whereas precuneus hypoconnectivity was unrelated to social deficits. Consistent with previous work in healthy adults, a functionally heterogeneous profile of connectivity within the posteromedial cortex in both TD and ASD children was observed. CONCLUSIONS: This work links hyperconnectivity of DMN-related circuits to the core social deficits in young children with ASD and highlights fundamental aspects of posteromedial cortex heterogeneity.

Lien vers le texte intégral (Open Access ou abonnement)

42. Maras KL, Memon A, Lambrechts A, Bowler DM. {{Recall of a live and personally experienced eyewitness event by adults with autism spectrum disorder}}. {J Autism Dev Disord};2013 (Aug);43(8):1798-1810.

The aim of the present study was to (a) extend previous eyewitness research in autism spectrum disorder (ASD) using a live and personally experienced event; (b) examine whether witnesses with ASD demonstrate a facilitative effect in memory for self- over other-performed actions; (c) explore source monitoring abilities by witnesses with ASD in discriminating who performed which actions within the event. Eighteen high-functioning adults with ASD and 18 age- and IQ-matched typical counterparts participated in a live first aid scenario in which they and the experimenter each performed a number of actions. Participants were subsequently interviewed for their memory of the event using a standard interview procedure with free recall followed by questioning. The ASD group recalled just as many correct details as the comparison group from the event overall, however they made more errors. This was the case across both free recall and questioning phases. Both groups showed a self-enactment effect across both interview phases, recalling more actions that they had performed themselves than actions that the experimenter had performed. However, the ASD group were more likely than their typical comparisons to confuse the source of self-performed actions in free recall, but not in questioning, which may indicate executive functioning difficulties with unsupported test procedures. Findings are discussed in terms of their theoretical and practical implications.

Lien vers le texte intégral (Open Access ou abonnement)

43. McCabe KL, Melville JL, Rich D, Strutt PA, Cooper G, Loughland CM, Schall U, Campbell LE. {{Divergent Patterns of Social Cognition Performance in Autism and 22q11.2 Deletion Syndrome (22q11DS)}}. {J Autism Dev Disord};2013 (Aug);43(8):1926-1934.

Individuals with developmental disorders frequently report a range of social cognition deficits including difficulties identifying facial displays of emotion. This study examined the specificity of face emotion processing deficits in adolescents with either autism or 22q11DS compared to typically developing (TD) controls. Two tasks (face emotion recognition and weather scene recognition) were used to explore group differences in visual scanpath strategy and concurrent recognition accuracy. For faces, the autism and 22q11DS groups demonstrated lower emotion recognition accuracy and fewer fixations compared to the TD group. Individuals with autism demonstrated fewer fixations to some weather scene stimuli compared to 22q11DS and TD groups, yet achieved a level of recognition accuracy comparable to the TD group. These findings provide evidence for a divergent pattern of social cognition dysfunction in autism and 22q11DS.

Lien vers le texte intégral (Open Access ou abonnement)

44. McMahon CM, Vismara LA, Solomon M. {{Measuring changes in social behavior during a social skills intervention for higher-functioning children and adolescents with autism spectrum disorder}}. {J Autism Dev Disord};2013 (Aug);43(8):1843-1856.

The social behavior of children and adolescents with Autism Spectrum Disorder was evaluated weekly over 19 weeks of a social skills training program. Participants’ vocalizations were coded as initiating, responding, or other (e.g., self-talk). Participants’ interactions were coded as dyadic peer interactions, dyadic leader interactions, interactions with a group of peers, interactions with a group of peer(s) and leader(s), or time spent by self. Over the course of the intervention, participants made fewer initiating and other vocalizations, more responding vocalizations, spent more time interacting with a group of peers, and spent marginally less time interacting with a leader. Gender, age, and intervention attendance effects on social behavior are also noted.

Lien vers le texte intégral (Open Access ou abonnement)

45. McMorris CA, Brown SM, Bebko JM. {{An examination of iconic memory in children with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Aug);43(8):1956-1966.

Iconic memory is the ability to accurately recall a number of items after a very brief visual exposure. Previous research has examined these capabilities in typically developing (TD) children and individuals with intellectual disabilities (ID); however, there is limited research on these abilities in children with Autism Spectrum Disorders (ASD). Twenty-one TD and eighteen ASD children were presented with circular visual arrays of letters for 100 ms and were asked to recall as many letters as possible or a single letter that was cued for recall. Groups did not differ in the number of items recalled, the rate of information decay, or speed of information processing. These findings suggest that iconic memory is an intact skill for children with ASD, a result that has implications for subsequent information processing.

Lien vers le texte intégral (Open Access ou abonnement)

46. Milne E, Scope A, Griffiths H, Codina C, Buckley D. {{Brief report: preliminary evidence of reduced sensitivity in the peripheral visual field of adolescents with autistic spectrum disorder}}. {J Autism Dev Disord};2013 (Aug);43(8):1976-1982.

A number of studies have demonstrated atypical perception in individuals with ASD. However, the majority of these studies have presented stimuli to central vision. The aim of the study presented here was to test the sensitivity of peripheral vision in ASD. This was achieved by asking participants to detect brief flashes of light presented between 30 and 85 degrees away from fixation. We found that participants with ASD detected fewer ligh-flashes than the control participants. This deficit was more pronounced in the nasal hemifield than the temporal hemifield. We suggest that the imbalance between nasal and temporal hemifield sensitivity may contribute to the peripheral-field stimulation and lateral glances that are observed in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

47. Narzisi A, Muratori F, Calderoni S, Fabbro F, Urgesi C. {{Neuropsychological profile in high functioning autism spectrum disorders}}. {J Autism Dev Disord};2013 (Aug);43(8):1895-1909.

A comprehensive investigation of the neuropsychological strengths and weaknesses of children with autism may help to better describe their cognitive abilities and to design appropriate interventions. To this end we compared the NEPSY-II profiles of 22 children with high-functioning autism spectrum disorders (HFASD) with those of 44 healthy control (HC) children 2:1 matched by gender, age, race and education. Results showed that only Visuospatial Processing was relatively spared in HFASD, while deficits were observed in Attention and Executive Functions, Language, Learning and Memory, and Sensorimotor Processing. Theory of Mind difficulties were observed in verbal tasks but not in the understanding of emotional contexts, suggesting that appropriate contextual cues might help emotion understanding in HFASD children. These widespread neuropsychological impairments reflect alterations in multiple cognitive domains in HFASD.

Lien vers le texte intégral (Open Access ou abonnement)

48. Parma V, Bulgheroni M, Tirindelli R, Castiello U. {{Body odors promote automatic imitation in autism}}. {Biol Psychiatry};2013 (Aug 1);74(3):220-226.

BACKGROUND: Autism spectrum disorders comprise a range of neurodevelopmental pathologies characterized, among other symptoms, by impaired social interactions. Individuals with this diagnosis are reported to often identify people by repetitively sniffing pieces of clothing or the body odor of family members. Since body odors are known to initiate and mediate many different social behaviors, smelling the body odor of a family member might constitute a sensory-based action promoting social contact. In light of this, we hypothesized that the body odor of a family member would facilitate the appearance of automatic imitation, an essential social skill known to be impaired in autism. METHODS: We recruited 20 autistic and 20 typically developing children. Body odors were collected from the children’s mothers’ axillae. A child observed a model (their mother or a stranger mother) execute (or not) a reach-to-grasp action toward an object. Subsequently, she performed the same action. The object was imbued with the child’s mother’s odor, a stranger mother’s odor, or no odor. The actions were videotaped, and movement time was calculated post hoc via a digitalization technique. RESULTS: Automatic imitation effects-expressed in terms of total movement time reduction-appear in autistic children only when exposed to objects paired with their own mother’s odor. CONCLUSIONS: The maternal odor, which conveys a social message otherwise neglected, helps autistic children to covertly imitate the actions of others. Our results represent a starting point holding theoretical and practical relevance for the development of new strategies to enhance communication and social behavior among autistic individuals.

Lien vers le texte intégral (Open Access ou abonnement)

49. Perryman TY, Carter AS, Messinger DS, Stone WL, Ivanescu AE, Yoder PJ. {{Brief report: parental child-directed speech as a predictor of receptive language in children with autism symptomatology}}. {J Autism Dev Disord};2013 (Aug);43(8):1983-1987.

Facilitative linguistic input directly connected to children’s interest and focus of attention has become a recommended component of interventions for young children with autism spectrum disorder (ASD). This longitudinal correlational study used two assessment time points and examined the association between parental undemanding topic-continuing talk related to the child’s attentional focus (i.e., follow-in comments) and later receptive language for 37 parent-child dyads with their young (mean = 21 months, range 15-24 months) children with autism symptomology. The frequency of parental follow-in comments positively predicted later receptive language after considering children’s joint attention skills and previous receptive language abilities.

Lien vers le texte intégral (Open Access ou abonnement)

50. Pettygrove S, Pinborough-Zimmerman J, John Meaney F, Van Naarden Braun K, Nicholas J, Miller L, Miller J, Rice C. {{Predictors of Ascertainment of Autism Spectrum Disorders Across Nine US Communities}}. {J Autism Dev Disord};2013 (Aug);43(8):1867-1879.

Autism spectrum disorders (ASD) prevalence estimates derived from a single data source under-identify children and provide a biased profile of case characteristics. We analyzed characteristics of 1,919 children with ASD identified by the Autism and Developmental Disabilities Monitoring Network. Cases ascertained only at education sources were compared to those identified at health sources. 38 % were education-only. These were older at their earliest evaluation (54.5 vs. 42.0 months, p < 0.001) and earliest ASD diagnosis (62 vs. 53 months, p < 0.001). More lived in census blocks with lower adult education (p < 0.001). Lower educational attainment of adults in census blocks of residence of education-only cases suggests disparities in access to clinical services with the schools providing crucial services to many families.

Lien vers le texte intégral (Open Access ou abonnement)

51. Pini G, Bigoni S, Engerstrom IW, Calabrese O, Felloni B, Scusa MF, Di Marco P, Borelli P, Bonuccelli U, Julu PO, Nielsen JB, Morin B, Hansen S, Gobbi G, Visconti P, Pintaudi M, Edvige V, Romanelli A, Bianchi F, Casarano M, Battini R, Cioni G, Ariani F, Renieri A, Benincasa A, Delamont RS, Zappella M. {{Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases}}. {Neuropediatrics};2013 (Aug);44(4):237-238.

Lien vers le texte intégral (Open Access ou abonnement)

52. Rafal Z. {{Conductive hearing loss in children with autism}}. {Eur J Pediatr};2013 (Aug);172(8):1007-1010.

Infantile autism is a serious comprehensive developmental disorder. The diagnosis of hearing loss or its exclusion, which often suggests suspected autism, is very important for early ENT, psychotherapy, and psychiatric treatment. One hundred children diagnosed with autism aged from 3 to 18 years, with a median age of 5 years, were evaluated. The control group of healthy children consisted of 100 children, aged from 3 to 18 years, with a median age of 6 years. Anamnesis and physical examination, including pediatric assessment and otoscopic examination, were carried out on children in both groups. Each child underwent bilateral otoacoustic emission examination in the 0.7, 1, 2, and 4 kHz bands and impedance audiometry examination. The data obtained were subjected to a basic statistical assessment. Chi(2) Pearson’s test was used to compare results of tests in both groups. The absence of otoacoustic emission for the 1 and 2 kHz bands was significantly more frequent in the group of autistic children than in the control group. Furthermore, types B and C2 tympanometric curves were significantly more common in the group of autistic children than in the group of healthy children.

Lien vers le texte intégral (Open Access ou abonnement)

53. Ravizza SM, Solomon M, Ivry RB, Carter CS. {{Restricted and repetitive behaviors in autism spectrum disorders: The relationship of attention and motor deficits}}. {Dev Psychopathol};2013 (Aug);25(3):773-784.

Restricted and repetitive behaviors (RRBs) are hallmark symptoms of autism spectrum disorders (ASDs); however, it has proven difficult to understand the mechanisms underlying these behaviors. One hypothesis suggests that RRBs are the result of a core deficit in attention. Alternatively, abnormalities of the motor system may constitute the central mechanism underlying RRBs, given motor deficits observed in ASDs. In this experiment, we investigated the etiology of RRBs and the relationship between attention and motor deficits. Movement impairments (a) may be indirectly related to attention deficits, (b) may result from a shared compromised process, or (c) may be independent. Twenty-two adolescents with ASD and 20 typically developing participants performed a spatial attention task. Movement impairments were assessed with a rhythmic tapping task. Attentional orienting and motor control were found to be related and supported the hypothesis that these impairments in ASD arise from a shared process. In contrast, measures of attention switching and motor control were found to be independent. Stereotyped behaviors, as assessed by parental ratings, were related more to the degree of motor impairment than to deficits of attention. These results suggest that both attentional orienting deficits and stereotyped RRBs are related to a compromised motor system.

Lien vers le texte intégral (Open Access ou abonnement)

54. Redcay E, Rice K, Saxe R. {{Interaction versus observation: A finer look at this distinction and its importance to autism}}. {Behav Brain Sci};2013 (Aug);36(4):435.

Although a second-person neuroscience has high ecological validity, the extent to which a second- versus third-person neuroscience approach fundamentally alters neural patterns of activation requires more careful investigation. Nonetheless, we are hopeful that this new avenue will prove fruitful in significantly advancing our understanding of typical and atypical social cognition.

Lien vers le texte intégral (Open Access ou abonnement)

55. Robinson L, Plano A, Cobb S, Riedel G. {{Long-term home cage activity scans reveal lowered exploratory behaviour in symptomatic female Rett mice}}. {Behav Brain Res};2013 (Aug 1);250:148-156.

Numerous experimental models have been developed to reiterate endophenotypes of Rett syndrome, a neurodevelopmental disorder with a multitude of motor, cognitive and vegetative symptoms. Here, female Mecp2(Stop) mice [1] were characterised at mild symptomatic conditions in tests for anxiety (open field, elevated plus maze) and home cage observation systems for food intake, locomotor activity and circadian rhythms. Aged 8-9 months, Mecp2(Stop) mice presented with heightened body weight, lower overall activity in the open field, but no anxiety phenotype. Although home cage activity scans conducted in two different observation systems, PhenoMaster and PhenoTyper, confirmed normal circadian activity, they revealed severely compromised habituation to a novel environment in all parameters registered including those derived from a non-linear decay model such as initial exploration maximum, decay half-life of activity and span, as well as plateau. Furthermore, overall activity was significantly reduced in nocturnal periods due to reductions in both fast ambulatory movements, but also a slow lingering. In contrast, light-period activity profiles during which the amount of sleep was highest remained normal in Mecp2(Stop) mice. These data confirm the slow and progressive development of Rett-like symptoms in female Mecp2(Stop) mice resulting in a prominent reduction of overall locomotor activity, while circadian rhythms are maintained. Alterations in the time-course of habituation may indicate deficiencies in cognitive processing.

Lien vers le texte intégral (Open Access ou abonnement)

56. Rogers TD, Dickson PE, McKimm E, Heck DH, Goldowitz D, Blaha CD, Mittleman G. {{Reorganization of circuits underlying cerebellar modulation of prefrontal cortical dopamine in mouse models of autism spectrum disorder}}. {Cerebellum};2013 (Aug);12(4):547-556.

Imaging, clinical, and pre-clinical studies have provided ample evidence for a cerebellar involvement in cognitive brain function including cognitive brain disorders, such as autism and schizophrenia. We previously reported that cerebellar activity modulates dopamine release in the mouse medial prefrontal cortex (mPFC) via two distinct pathways: (1) cerebellum to mPFC via dopaminergic projections from the ventral tegmental area (VTA) and (2) cerebellum to mPFC via glutamatergic projections from the mediodorsal and ventrolateral thalamus (ThN md and vl). The present study compared functional adaptations of cerebello-cortical circuitry following developmental cerebellar pathology in a mouse model of developmental loss of Purkinje cells (Lurcher) and a mouse model of fragile X syndrome (Fmr1 KO mice). Fixed potential amperometry was used to measure mPFC dopamine release in response to cerebellar electrical stimulation. Mutant mice of both strains showed an attenuation in cerebellar-evoked mPFC dopamine release compared to respective wildtype mice. This was accompanied by a functional reorganization of the VTA and thalamic pathways mediating cerebellar modulation of mPFC dopamine release. Inactivation of the VTA pathway by intra-VTA lidocaine or kynurenate infusions decreased dopamine release by 50 % in wildtype and 20-30 % in mutant mice of both strains. Intra-ThN vl infusions of either drug decreased dopamine release by 15 % in wildtype and 40 % in mutant mice of both strains, while dopamine release remained relatively unchanged following intra-ThN md drug infusions. These results indicate a shift in strength towards the thalamic vl projection, away from the VTA. Thus, cerebellar neuropathologies associated with autism spectrum disorders may cause a reduction in cerebellar modulation of mPFC dopamine release that is related to a reorganization of the mediating neuronal pathways.

Lien vers le texte intégral (Open Access ou abonnement)

57. Rutter M. {{Changing concepts and findings on autism}}. {J Autism Dev Disord};2013 (Aug);43(8):1749-1757.

New research findings provide major challenges regarding our understanding of the concept of autism. These are critically discussed in relation to research relevant to classification, genetics, environmental risk factors, gene-environment interplay, animal models, biomarkers, clinical features, neuropathology, pharmacotherapy, behavioral treatments, and functioning in adult life. It is concluded that, although there have been major research advances; there is a need for a reconceptualization and an avoidance of claims that go beyond the evidence.

Lien vers le texte intégral (Open Access ou abonnement)

58. Sheen V, Valencia IM, Torres AR. {{Atypical Features in MECP2 P152R-Associated Rett Syndrome}}. {Pediatr Neurol};2013 (Aug);49(2):124-126.

BACKGROUND: Rett syndrome is a neurodevelopmental disorder that occurs in individuals with a mutation in the X-linked methyl-CpG-binding protein 2 (2MECP2) gene. 2MECP2 mutations produce a high degree of variability in the clinical phenotypes including the classic Rett features of head growth deceleration, psychomotor regression, deviant communicative ability, hand stereotypes, autonomic dysfunction, and seizures. Atypical forms of Rett such as those with preserved speech do not follow these characteristics. PATIENT: We report a 9-year-old girl with atypical Rett (macrocephaly, preserved speech, and psychiatric manifestations) with a 2MECP2 (P152R) mutation that generally is not associated with these clinical signs. CONCLUSION: This case broadens the genotype-phenotype correlation between the P152R mutation 2MECP2-associated Rett syndrome.

Lien vers le texte intégral (Open Access ou abonnement)

59. Shimada S, Okamoto N, Nomura S, Fukui M, Shimakawa S, Sangu N, Shimojima K, Osawa M, Yamamoto T. {{Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism}}. {Am J Med Genet A};2013 (Aug);161(8):2078-2083.

We observed a patient with a Saethre-Chotzen-like phenotype with severe neurological features. Saethre-Chotzen syndrome (acrocephalosyndactyly type III; SCS; OMIM #101400) is an autosomal dominant craniosynostosis syndrome characterized by craniofacial and mild limb abnormalities. The phenotypic features of chromosomal microdeletions involving the 7p21.1, where the twist homolog 1 gene (TWIST1) responsible for SCS is located, are recognized as a contiguous gene deletion syndrome with SCS and other phenotypic manifestations. In this study, we identified microdeletions in 4q13.2 and 7p21.1 in a patient with SCS and severe neurological features including developmental delay and autistic behavior. In comparison to other SCS patients with intragenic mutations or small deletions in 7p21.1, neurological features seen in this patient were extremely severe, likely modified by a concurrent deletion of 4q13.2. Both microdeletions were de novo and paternal in origin. Further information on such concurrent chromosomal deletions should be accumulated for better understanding of the mechanism. (c) 2013 Wiley Periodicals, Inc.

Lien vers le texte intégral (Open Access ou abonnement)

60. Singh AS, Chandra R, Guhathakurta S, Sinha S, Chatterjee A, Ahmed S, Ghosh S, Rajamma U. {{Genetic association and gene-gene interaction analyses suggest likely involvement of ITGB3 and TPH2 with autism spectrum disorder (ASD) in the Indian population}}. {Prog Neuropsychopharmacol Biol Psychiatry};2013 (Aug);45:131-143.

BACKGROUND: Serotoninergic dysfunction leads to neurodevelopmental abnormalities and behavioral impairments. Platelet hyperserotoninemia is reported as the best identified endophenotype for autism spectrum disorders. Therefore, in the present study we investigate the association of TPH2, the rate limiting enzyme in 5-HT biosynthesis and ITGB3, a serotonin quantitative trait locus with ASD in the Indian population. METHODS: Population and family-based genetic association and gene-gene interaction analyses were performed to evaluate the role of ITGB3 and TPH2 markers in ASD etiology. RESULTS: Association tests using ITGB3 markers revealed significant paternal overtransmission of T allele of rs5918 to male probands. Interestingly for TPH2, we observed significant overrepresentation of A-A (rs11179000-rs4290270), G-A (rs4570625-rs4290270), G-G-A (rs4570625-rs11179001-rs4290270) and A-G-A (rs11179000-rs11179001-rs4290270) haplotypes in the controls and maternal preferential transmission of A-A (rs11179001-rs7305115), T-A-A (rs4570625-rs11179001-rs7305115) and T-A-A (rs11179000-rs11179001-rs7305115) and nontransmission of G-G-A (rs4570625-rs11179001-rs7305115) haplotypes to the affected offspring. Moreover, interaction of ITGB3 marker, rs15908 with TPH2 markers was found to be significant and influenced by the sex of the probands. Predicted individual risk, which varied from very mild to moderate, supports combined effect of these markers in ASD. CONCLUSION: Overall results of the present study indicate likely involvement of ITGB3 and TPH2 in the pathophysiology of ASD in the Indian population.

Lien vers le texte intégral (Open Access ou abonnement)

61. Smithson PE, Kenworthy L, Wills MC, Jarrett M, Atmore K, Yerys BE. {{Real world executive control impairments in preschoolers with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Aug);43(8):1967-1975.

This study examined executive control (EC) in preschoolers with and without autism spectrum disorders (ASD) using the Behavior Rating Inventory of Executive Functions-Preschool Version (BRIEF-P). ASD participants were a clinically referred sample of preschoolers; the typically developing control group was selected from the BRIEF-P standardization sample. The ASD group was rated significantly worse on all BRIEF-P scores, and these impairments did not correlate with ASD symptoms. These findings document impairments in real world EC in preschoolers with ASD, and have implications for assessing preschoolers suspected of having an ASD. Furthermore, the findings also converge with BRIEF studies of school-aged children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

62. Stanton AS. {{Autism assessment tools: a (partial) misinterpretation}}. {Arch Dis Child Educ Pract Ed};2013 (Aug);98(4):159.

Lien vers le texte intégral (Open Access ou abonnement)

63. Sullivan S, Rai D, Golding J, Zammit S, Steer C. {{The Association Between Autism Spectrum Disorder and Psychotic Experiences in the Avon Longitudinal Study of Parents and Children (ALSPAC) Birth Cohort}}. {J Am Acad Child Adolesc Psychiatry};2013 (Aug);52(8):806-814 e802.

OBJECTIVE: Studies report overlap between autism spectrum disorders and psychosis. This may indicate a relationship between the 2 disorders or an artificial overlap due to similarity of symptoms. The aim of this study was to investigate whether autism spectrum disorder and autistic traits predict psychotic experiences in early adolescence. METHOD: This study analyzes prospective data from a cohort. A dataset was analyzed of 5,359 cohort members who had provided data on autistic traits and/or a diagnosis of an autism spectrum disorder and psychotic experiences at age 12 years. RESULTS: A diagnosis of an autism spectrum disorder (odds ratio = 2.81, 95% confidence interval = 1.07, 7.34 p = .035) and childhood autistic traits (odds ratio = 1.15, 95% confidence interval = 1.05, 1.26 p = .0018) were associated with psychotic experiences after adjustment for confounders. CONCLUSIONS: These findings suggest a shared neurodevelopmental origin for autism and psychosis.

Lien vers le texte intégral (Open Access ou abonnement)

64. Symons FJ, Byiers B, Tervo RC, Beisang A. {{Parent-reported Pain in Rett Syndrome}}. {Clin J Pain};2013 (Aug);29(8):744-746.

OBJECTIVES: Clinical reports suggest that patients with Rett syndrome (RTT) live with significant chronic health issues as well as severe motor and communication impairments. Consequently, patients with RTT may be at risk for living with pain but not having it recognized. The purpose of this preliminary study was to document parent reported estimates of pain frequency, pain communication, and pain source. METHODS: Caregivers of 44 patients with clinically diagnosed RTT (mean RTT age = 21.5, SD = 13.5) completed a health survey about their daughter that contained a number of items specific to pain from the Non-Communicating Children’s Pain Checklist – Revised SURVEY RESULTS: : Among survey responders, 24% reported that their child had experienced pain on 8 or more days (> 1 week) in the previous 30 days. The most frequent form of pain communication was facial expression (85%) and vocalization (82%, eg, moan, cry). The most commonly reported pain source was gastro-intestinal (66%). Pain frequency was significantly (P<0.05) correlated with age (0.41), number of pain sources (0.72), and number of health problems (0.45); and the number pain sources was significantly (P<0.05) correlated with number of health problems (0.67). DISCUSSION: These preliminary results suggest that pain is a problem for a significant subgroup of patients with RTT. Almost one quarter of respondents indicated their daughters experience over a week of pain per month. The frequent health and communication issues associated with RTT suggest an increased risk that pain may be overlooked or discounted in this vulnerable population.

Lien vers le texte intégral (Open Access ou abonnement)

65. Taylor MJ, Charman T, Robinson EB, Plomin R, Happe F, Asherson P, Ronald A. {{Developmental associations between traits of autism spectrum disorder and attention deficit hyperactivity disorder: a genetically informative, longitudinal twin study}}. {Psychol Med};2013 (Aug);43(8):1735-1746.

BACKGROUND: Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), and associated subclinical traits, regularly co-occur with one another. However, the aetiology of their co-occurrence remains poorly understood. This paper provides the first genetically informative, longitudinal analysis of the interaction between traits of ASD and ADHD, and explores their genetic and environmental overlap. Method Parents of approximately 5000 twin pairs completed questionnaires assessing traits of ASD and ADHD when twins were aged 8 and 12 years. Cross-lagged longitudinal modelling explored their developmental association, enabling a consideration of phenotypic-driven processes. Overlapping aetiological influences on traits at age 12 years were explored using bivariate twin modelling. RESULTS: Traits of ADHD at age 8 years were more strongly predictive of traits of ASD at 12 years than traits of ASD at 8 years were of traits of ADHD at 12 years. Analysis of traits by subscales assessing specific symptom domains suggested that communication difficulties were most strongly associated with traits of ADHD. Bivariate modelling suggested moderate genetic overlap on traits in males (genetic correlation = 0.41), and a modest degree of overlap in females (genetic correlation = 0.23) at age 12 years. CONCLUSIONS: Traits of ADHD at age 8 years significantly influence traits of ASD at age 12 years, after controlling for their initial relationship at age 8 years. In particular, early ADHD traits influenced later communication difficulties. These findings demonstrate the dynamic nature of co-occurring traits across development. In addition, these findings add to a growing body of literature suggesting that traits of ASD and ADHD may arise via similar aetiological processes.

Lien vers le texte intégral (Open Access ou abonnement)

66. Thabet EM, Zaghloul HS. {{Auditory profile and high resolution CT scan in autism spectrum disorders children with auditory hypersensitivity}}. {Eur Arch Otorhinolaryngol};2013 (Aug);270(8):2353-2358.

Autism is the third most common developmental disorder, following mental retardationand cerebral palsy. ASD children have been described more often as beingpreoccupied with or agitated by noise. The aim of this study was to evaluate theprevalence and clinical significance of semicircular canal dehiscence detected on CTimages in ASD children with intolerance to loud sounds in an attempt to find ananatomical correlate with hyperacusis.14 ASD children with auditory hypersensitivity and 15 ASD children without auditoryhypersensitivity as control group age and gender matched were submitted to historytaking, otological examination, tympanometry and acoustic reflex thresholdmeasurement. ABR was done to validate normal peripheral hearing and integrity ofauditory brain stem pathway. High resolution CT scan petrous and temporal boneimaging was performed to all participated children. All participants had normal hearingsensitivity in ABR testing. Absolute ABR peak waves of I and III showed no statisticallysignificant difference between the two groups, while absolute wave V peak andinterpeak latencies I-V and III-V were shorter in duration in study group whencompared to the control group. CT scans revealed SSCD in 4 out of 14 of the studygroup (29 %), the dehiscence was bilateral in one patient and unilateral in threepatients. None of control group showed SSCD. In conclusion, we have reportedevidence that apparent hypersensitivity to auditory stimuli (short conduction time in ABR) despite the normal physiological measures in ASD children with auditoryhypersensitivity can provide a clinical clue of a possible SSCD.

Lien vers le texte intégral (Open Access ou abonnement)

67. Thompson RM, Johnston S. {{Use of social stories to improve self-regulation in children with autism spectrum disorders}}. {Phys Occup Ther Pediatr};2013 (Aug);33(3):271-284.

ABSTRACT A multiple baseline across participants design was used to evaluate the effects of Social Stories to help preschool-aged children with characteristics of Autism Spectrum Disorders (ASD) increase their engagement in functional behaviors and use sensory integrative-based strategies to promote self-regulation. Three children, 3-5 years old, from a self-contained preschool classroom were selected to participate in the study. The intervention package included reading individualized Social Stories that discussed desired behaviors and self-regulation strategies. The researchers measured the percentage of intervals in which participants engaged in desired behaviors. The frequency of desired behaviors increased for all participants. The use of self-regulation strategies varied across participants. These findings suggest that the intervention was successful in increasing desired behaviors of the three children. Further research is recommended on the effectiveness of embedding sensory integrative strategies into Social Stories. Practitioners may consider the use of Social Stories as a tool to increase independence and encourage self-regulated behaviors in children with characteristics of ASD.

Lien vers le texte intégral (Open Access ou abonnement)

68. Turygin N, Matson JL, Konst M, Williams L. {{The relationship of early communication concerns to developmental delay and symptoms of autism spectrum disorders}}. {Dev Neurorehabil};2013 (Aug);16(4):230-236.

Objective: Parental concerns related to communication are an oft-cited reason that children present to early intervention clinics. We examine the relationship between early communication first concerns (FCs) and symptoms of ASD. Methods: The present study included 3173 toddlers at risk for developmental delay. The Battelle Developmental Inventory, 2nd edition and the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT) were used to examine developmental quotient scores and autism symptoms. Results: Significant results were observed with respect to FC group and gender. A significant effect of FC-Communication group was observed with respect to developmental quotient overall and subscale scores, as well as autism symptom scores. Conclusion: Those with communication disorders are a heterogeneous population and do not account for all children who will meet criteria for a diagnosis of an ASD.

Lien vers le texte intégral (Open Access ou abonnement)

69. Turygin NC, Matson JL, Adams H, Belva B. {{The effect of DSM-5 criteria on externalizing, internalizing, behavioral and adaptive symptoms in children diagnosed with autism}}. {Dev Neurorehabil};2013 (Aug);16(4):277-282.

Objective: Diagnostic criteria for autism spectrum disorders (ASDs) are changing with the fifth edition of the Diagnostic and Statistical Manual (DSM-5), which simplifies the diagnostic categories into social/emotional deficits and repetitive and restricted behavior. ASDs have been closely linked to a variety of other disorders, in particular externalizing disorders such as ADHD, and internalizing disorders including anxiety disorders and obsessive compulsive disorder. The present study examines the externalizing, internalizing, behavioral and adaptive symptoms of children with ASD. Method: Children diagnosed with the DSM-IV who do not meet diagnostic criteria for DSM-5 and were compared to a non-ASD sample and a sample of those who meet the new criteria. Differences were examined between the three experimental groups with respect to internalizing, externalizing, behavioral severity and adaptive behavior. Results: No significant differences were observed between the DSM-5 and DSM-IV groups with respect to composite and subscale scores on the externalizing, behavior severity index and adaptive behavior domains of the Behavior Assessment System for Children, Second Edition. Conclusions: Significantly more impairment was evident for both ASD groups compared to the no-ASD group.

Lien vers le texte intégral (Open Access ou abonnement)

70. Walker CK, Anderson KW, Milano KM, Ye S, Tancredi DJ, Pessah IN, Hertz-Picciotto I, Kliman HJ. {{Trophoblast inclusions are significantly increased in the placentas of children in families at risk for autism}}. {Biol Psychiatry};2013 (Aug 1);74(3):204-211.

BACKGROUND: Gestation is a critical window for neurodevelopmental vulnerability. This study examined whether the presence of trophoblast inclusions (TIs) in the placenta could serve as a predictor for children at elevated risk for autism spectrum disorder (ASD). METHODS: Placentas were obtained from 117 births in the MARBLES (Markers of Autism Risk in Babies-Learning Early Signs) cohort of families who have one or more previous biological children with ASD, placing their newborn at elevated risk for neurodevelopmental compromise. Control samples were obtained from 100 uncomplicated term pregnancies of multiparous women with one or more typically developing biological children. Frequency of TIs was compared across the two groups. RESULTS: Placentas from at-risk pregnancies had an eightfold increased odds of having two or more TIs compared with control samples (odds ratio: 8.0, 95% confidence interval: 3.6-18.0). The presence of>/=2 TIs yielded a sensitivity of 41% and a specificity of 92% for predicting ASD risk status, whereas>/=4 TIs yielded a sensitivity of 19%, a specificity of 99.9%, and a positive likelihood ratio of 242 and conservatively predicted an infant with a 74% probability of being at risk for ASD. CONCLUSIONS: Our findings suggest that the placentas from women whose fetuses are at elevated risk for autism are markedly different from control placentas. These differences are manifested histologically as TIs. Their identification has the possibility of identifying newborns at risk for ASD who might benefit from targeted early interventions aimed at preventing or ameliorating behavioral symptoms and optimizing developmental outcomes.

Lien vers le texte intégral (Open Access ou abonnement)

71. Whitehouse AJ. {{Autism spectrum disorders are associated with fetal growth extremely below or above average for gestational age}}. {Evid Based Ment Health};2013 (Aug);16(3):86.

Lien vers le texte intégral (Open Access ou abonnement)

72. Williams TA, Porter MA, Langdon R. {{Viewing social scenes: a visual scan-path study comparing fragile x syndrome and williams syndrome}}. {J Autism Dev Disord};2013 (Aug);43(8):1880-1894.

Fragile X syndrome (FXS) and Williams syndrome (WS) are both genetic disorders which present with similar cognitive-behavioral problems, but distinct social phenotypes. Despite these social differences both syndromes display poor social relations which may result from abnormal social processing. This study aimed to manipulate the location of socially salient information within scenes to investigate the visual attentional mechanisms of: capture, disengagement, and/or general engagement. Findings revealed that individuals with FXS avoid social information presented centrally, at least initially. The WS findings, on the other hand, provided some evidence that difficulties with attentional disengagement, rather than attentional capture, may play a role in the WS social phenotype. These findings are discussed in relation to the distinct social phenotypes of these two disorders.

Lien vers le texte intégral (Open Access ou abonnement)

73. Wilson KP. {{Teaching social-communication skills to preschoolers with autism: efficacy of video versus in vivo modeling in the classroom}}. {J Autism Dev Disord};2013 (Aug);43(8):1819-1831.

Video modeling is a time- and cost-efficient intervention that has been proven effective for children with autism spectrum disorder (ASD); however, the comparative efficacy of this intervention has not been examined in the classroom setting. The present study examines the relative efficacy of video modeling as compared to the more widely-used strategy of in vivo modeling using an alternating treatments design with baseline and replication across four preschool-aged students with ASD. Results offer insight into the heterogeneous treatment response of students with ASD. Additional data reflecting visual attention and social validity were captured to further describe participants’ learning preferences and processes, as well as educators’ perceptions of the acceptability of each intervention’s procedures in the classroom setting.

Lien vers le texte intégral (Open Access ou abonnement)

74. Woo CC, Leon M. {{Environmental enrichment as an effective treatment for autism: A randomized controlled trial}}. {Behav Neurosci};2013 (Aug);127(4):487-497.

Enriched sensorimotor environments enable rodents to compensate for a wide range of neurological challenges, including those induced in animal models of autism. Given the sensorimotor deficits in most children with autism, we attempted to translate that approach to their treatment. In a randomized controlled trial, 3-12 year-old children with autism were assigned to either a sensorimotor enrichment group, which received daily olfactory/tactile stimulation along with exercises that stimulated other paired sensory modalities, or to a control group. We administered tests of cognitive performance and autism severity to both groups at the initiation of the study and after 6 months. Severity of autism, as assessed with the Childhood Autism Rating Scale, improved significantly in the enriched group compared to controls. Indeed, 42% of the enriched group and only 7% of the control group had what we considered to be a clinically significant improvement of 5 points on that scale. Sensorimotor enrichment also produced a clear improvement in cognition, as determined by their Leiter-R Visualization and Reasoning scores. At 6 months, the change in average scores for the enriched group was 11.3 points higher than that for the control group. Finally, 69% of parents in the enriched group and 31% of parents in the control group reported improvement in their child over the 6-month study. Environmental enrichment therefore appears to be effective in ameliorating some of the symptoms of autism in children. (PsycINFO Database Record (c) 2013 APA, all rights reserved).

Lien vers le texte intégral (Open Access ou abonnement)

75. Zablotsky B, Anderson C, Law P. {{The association between child autism symptomatology, maternal quality of life, and risk for depression}}. {J Autism Dev Disord};2013 (Aug);43(8):1946-1955.

Parents raising children with autism spectrum disorders (ASDs) have been shown to experience high levels of stress and report a lower quality of life. The current study examined the association between child autism symptomatology, mother’s quality of life, and mother’s risk for depression in a sample of 1,110 mothers recruited from a web-based registry of families with children with an ASD. Higher autism symptomatology and a greater number of co-occurring psychiatric disorders in the child were associated with an increased risk for current treatment of maternal depression and a lower maternal quality of life. The results highlight the importance of screening for depression, particularly in mothers of children with ASD and mental health and behavioral challenges.

Lien vers le texte intégral (Open Access ou abonnement)

76. Zablotsky B, Bradshaw CP, Anderson CM, Law P. {{Risk factors for bullying among children with autism spectrum disorders}}. {Autism};2013 (Jul 30)

Although children with disabilities have been found to be at an increased risk of bullying, there are limited studies investigating predictors of bullying involvement in children with autism spectrum disorders. The current study presents findings from 1221 parents of children diagnosed with autism spectrum disorder who were selected from a national web-based registry. Parents completed a survey dedicated to the school and bullying experiences of their child, and multivariate logistic regression analyses were conducted to identify child and school risk factors for involvement as victim, bully, or bully-victim. Additional analyses examined the risk of bullying involvement based on the amount of time spent in general education classrooms. Children diagnosed with Asperger’s disorder, attending a public school or a school with a general education population, were at the greatest risk of being victimized in the past month. Children with comorbid conditions and a high level of autistic traits were the most likely to be victims, bullies, and bully-victims. Finally, children in full inclusion classrooms were more likely to be victimized than those who spend the majority of their time in special education settings. Future research studies should be invested in finding appropriate supports for children with autism spectrum disorder placed in inclusive settings.

Lien vers le texte intégral (Open Access ou abonnement)