1. Ackerman S, Reilly B, Bernier R. {{Tympanostomy Tube Placement in Children With Autism}}. {J Dev Behav Pediatr};2012 (Feb 16)
OBJECTIVE:: To understand rate of tympanostomy tube placement (TTP) in children with autism spectrum disorder (ASD) and, if different from rate of TTP in the general population, consider reasons underlying the difference. METHODS:: Questions pertaining to TTP were asked during caregiver interview. Totally, 2080 children with ASD were characterized through collection of demographic information; medical history; and cognitive, adaptive, and behavioral assessments. Frequencies of TTP in the ASD sample were compared with general population rates according to the most recent literature. Relationships between TTP and factors that may impact the rate of TTP were investigated. RESULTS:: Totally, 15.5% of children with ASD received TTP. The older the age, the higher the rate of TTP, with 17.0% of children aged 13 to 17 years having received TTP. Chi-square results comparing general population TTP rates to the sample indicated significantly higher rates among the ASD population. Logistic regression indicated 2 significant predictors for TTP: otitis media frequency and race. Furthermore, irritability rates in children approached predictive significance (beta = 0.015, p < .10). CONCLUSIONS:: The authors found that approximately 1 in 6 children with ASD underwent TTP, more than double the rate in the general population. The rate may simply be higher because physicians are swift to perform TTP in children at risk for speech delay. At this time, there exists a lack of data on the outcomes of TTP in children with ASD. More evidence is needed to understand the usefulness of TTP in children with ASD given the high rate of procedures being performed.
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2. Albizzati A, More L, Di Candia D, Saccani M, Lenti C. {{Normal concentrations of heavy metals in autistic spectrum disorders}}. {Minerva Pediatr};2012 (Feb);64(1):27-31.
AIM: Autism is a neurological-psychiatric disease. In the last 20 years we witnessed a strong increase of autism diagnoses. To explain this increase, some scientists put forward the hypothesis that heavy metal intoxication may be one of the causes of autism. The origin of such an intoxication was hypothesised to be vaccines containing thimerosal as antimicrobic preservative. This preservative is mainly made up of mercury. The aim of our research was to investigate the correlation between autism and high biological concentrations of heavy metals. METHODS: Seventeen autistic patients, between 6 and 16 years old (average: 11.52 DS: 3.20) (15 males and 2 females), were investigated, as well as 20 non autistic subjects from neuropsychiatric service between 6 and 16 years (average: 10.41 DS: 3.20) (15 males and 2 females). In both groups blood, urine and hair samples were analysed trough means of a semiquantitative analysis of heavy metal dosing. The metals analysed were Lead, mercury, cadmium and aluminium, since their build-up may give both neurological and psychiatric symptoms. RESULTS: The comparison of the mean values of the concentrations between the groups, performed with ANOVA test, has shown no statistically relevant differences. CONCLUSION: There wasn’t correlation between autism and heavy metal concentration.
3. Alcantara JI, Cope TE, Cope W, Weisblatt EJ. {{Auditory temporal-envelope processing in high-functioning children with Autism Spectrum Disorder}}. {Neuropsychologia};2012 (Feb 13)
Individuals with Autism Spectrum Disorder (ASD) perform worse than controls when listening to speech in a temporally modulated noise (Alcantara, Weisblatt, Moore, & Bolton, 2004; Groen et al., 2009). The current study examined whether this is due to poor auditory temporal-envelope processing. Temporal modulation transfer functions were measured in 6 high-functioning children with ASD and 6 control listeners, using sinusoidal amplitude modulation of a broadband noise. Modulation-depth thresholds at low modulation rates were significantly higher for the ASD group than for the Control group, and generally higher at all modulation rates tested. Low-pass filter model estimates of temporal-envelope resolution and temporal-processing efficiency showed significant differences between the groups for modulation-depth threshold values at low modulation rates. Intensity increment-detection thresholds, measured on a subset of individuals in the ASD and Control groups, were not significantly different. The results are consistent with ASD individuals having reduced processing efficiency of temporal modulations. Possible neural mechanisms that might underlie these findings are discussed.
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4. Altgassen M, Koban N, Kliegel M. {{Do Adults with Autism Spectrum Disorders Compensate in Naturalistic Prospective Memory Tasks?}}. {J Autism Dev Disord};2012 (Feb 17)
The present study is the first to directly compare event- and time-based prospective memory in Autism Spectrum Disorders (ASD) using a contextual task mirroring real life demands of prospective memory. Twenty-five individuals with ASD and 25 age- and ability-matched controls completed the Dresden Breakfast task which required participants to prepare breakfast following a set of rules and time restrictions. Overall, adults with ASD had less correct time- and event-based prospective memory responses in comparison to controls, which is consistent with previous research in children with ASD. Moreover, ASD participants completed fewer tasks, followed rules less closely, and monitored the elapsing time less closely than controls. Individuals with ASD seem not to be compensating in naturalistic prospective memory tasks.
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5. Bou Khalil R. {{Would some cannabinoids ameliorate symptoms of autism?}}. {Eur Child Adolesc Psychiatry};2012 (Feb 17)
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6. Buxbaum JD, Betancur C, Bozdagi O, Dorr NP, Elder GA, Hof PR. {{Optimizing the phenotyping of rodent ASD models: Enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features}}. {Mol Autism};2012 (Feb 20);3(1):1.
ABSTRACT: BACKGROUND: There is interest in defining mouse neurobiological phenotypes useful for studying autism spectrum disorders (ASD) in both forward and reverse genetic approaches. A recurrent focus has been on high-order behavioral analyses, including learning and memory paradigms and social paradigms. However, well-studied mouse models, including for example Fmr1 knockout mice, do not show dramatic deficits in such high-order phenotypes, raising a question as to what constitute useful phenotypes in ASD models. METHODS: To address this, we made use of a list of 112 disease genes etiologically involved in ASD to survey, on a large scale and with unbiased methods as well as expert review, phenotypes associated with a targeted disruption of these genes in mice, using the Mammalian Phenotype Ontology database. In addition, we compared the results with similar analyses for human phenotypes. FINDINGS: We observed four classes of neurobiological phenotypes associated with disruption of a large proportion of ASD genes, including: (1) Changes in brain and neuronal morphology; (2) electrophysiological changes; (3) neurological changes; and (4) higher-order behavioral changes. Alterations in brain and neuronal morphology represent quantitative measures that can be more widely adopted in models of ASD to understand cellular and network changes. Interestingly, the electrophysiological changes differed across different genes, indicating that excitation/inhibition imbalance hypotheses for ASD would either have to be so non-specific as to be not falsifiable, or, if specific, would not be supported by the data. Finally, it was significant that in analyses of both mouse and human databases, many of the behavioral alterations were neurological changes, encompassing sensory alterations, motor abnormalities, and seizures, as opposed to higher-order behavioral changes in learning and memory and social behavior paradigms. CONCLUSIONS: The results indicated that mutations in ASD genes result in defined groups of changes in mouse models and support a broad neurobiological approach to phenotyping rodent models for ASD, with a focus on biochemistry and molecular biology, brain and neuronal morphology, and electrophysiology, as well as both neurological and additional behavioral analyses. Analysis of human phenotypes associated with these genes reinforced these conclusions, supporting face validity for these approaches to phenotyping of ASD models. Such phenotyping is consistent with the successes in Fmr1 knockout mice, in which morphological changes recapitulated human findings and electrophysiological deficits resulted in molecular insights that have since led to clinical trials. We propose both broad domains and, based on expert review of more than 50 publications in each of the four neurobiological domains, specific tests to be applied to rodent models of ASD.
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7. De Rubeis S, Fernandez E, Buzzi A, Di Marino D, Bagni C. {{Molecular and Cellular Aspects of Mental Retardation in the Fragile X Syndrome: From Gene Mutation/s to Spine Dysmorphogenesis}}. {Adv Exp Med Biol};2012;970:517-551.
The Fragile X syndrome (FXS) is the most frequent form of inherited mental retardation and also considered a monogenic cause of Autism Spectrum Disorder. FXS symptoms include neurodevelopmental delay, anxiety, hyperactivity, and autistic-like behavior. The disease is due to mutations or loss of the Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein abundant in the brain and gonads, the two organs mainly affected in FXS patients. FMRP has multiple functions in RNA metabolism, including mRNA decay, dendritic targeting of mRNAs, and protein synthesis. In neurons lacking FMRP, a wide array of mRNAs encoding proteins involved in synaptic structure and function are altered. As a result of this complex dysregulation, in the absence of FMRP, spine morphology and functioning is impaired. Consistently, model organisms for the study of the syndrome recapitulate the phenotype observed in FXS patients, such as dendritic spine anomalies and defects in learning.Here, we review the fundamentals of genetic and clinical aspects of FXS, devoting a specific attention to ASD comorbidity and FXS-related diseases. We also review the current knowledge on FMRP functions through structural, molecular, and cellular findings. Finally, we discuss the neuroanatomical, electrophysiological, and behavioral defects caused by FMRP loss, as well as the current treatments able to partially revert some of the FXS abnormalities.
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8. Eyler LT, Pierce K, Courchesne E. {{A failure of left temporal cortex to specialize for language is an early emerging and fundamental property of autism}}. {Brain};2012 (Feb 20)
Failure to develop normal language comprehension is an early warning sign of autism, but the neural mechanisms underlying this signature deficit are unknown. This is because of an almost complete absence of functional studies of the autistic brain during early development. Using functional magnetic resonance imaging, we previously observed a trend for abnormally lateralized temporal responses to language (i.e. greater activation on the right, rather than the expected left) in a small sample (n = 12) of sleeping 2-3 year olds with autism in contrast to typically developing children, a finding also reported in autistic adults and adolescents. It was unclear, however, if findings of atypical laterality would be observed in a larger sample, and at even earlier ages in autism, such as around the first birthday. Answers to these questions would provide the foundation for understanding how neurofunctional defects of autism unfold, and provide a foundation for studies using patterns of brain activation as a functional early biomarker of autism. To begin to examine these issues, a prospective, cross-sectional design was used in which brain activity was measured in a large sample of toddlers (n = 80) during the presentation of a bedtime story during natural sleep. Forty toddlers with autism spectrum disorder and 40 typically developing toddlers ranging in age between 12-48 months participated. Any toddler with autism who participated in the imaging experiment prior to final diagnosis was tracked and diagnoses confirmed at a later age. Results indicated that at-risk toddlers later diagnosed as autistic display deficient left hemisphere response to speech sounds and have abnormally right-lateralized temporal cortex response to language; this defect worsens with age, becoming most severe in autistic 3- and 4-year-olds. Typically developing children show opposite developmental trends with a tendency towards greater temporal cortex response with increasing age and maintenance of left-lateralized activation with age. We have now demonstrated lateralized abnormalities of temporal cortex processing of language in autism across two separate samples, including a large sample of young infants who later are diagnosed with autism, suggesting that this pattern may reflect a fundamental early neural developmental pathology in autism.
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9. Falck-Ytter T, Fernell E, Hedvall AL, von Hofsten C, Gillberg C. {{Gaze Performance in Children with Autism Spectrum Disorder when Observing Communicative Actions}}. {J Autism Dev Disord};2012 (Feb 22)
The main purpose of this eye tracking study was to map the correlates of gaze performance in a brief test of spontaneous gaze and point-gesture following in young children with autistic disorder (AD), Pervasive developmental disorder-not otherwise specified (PDD-NOS), or typical development (TD). Gaze measures included the children’s spontaneous tendency to look at the correct (attended) toy, and the latency of their correct responses. In addition to group differences (AD vs. TD), we found that in AD, accuracy of performance was specifically related to adaptive communication skills. The study also indicated that the latency of correct gaze shifts is related to verbal intelligence. These results have direct implications for our understanding of (responsive) joint attention impairments in AD.
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10. Finkenauer C, Pollmann MM, Begeer S, Kerkhof P. {{Brief Report: Examining the Link Between Autistic Traits and Compulsive Internet Use in a Non-Clinical Sample}}. {J Autism Dev Disord};2012 (Feb 15)
Individuals with autism spectrum disorders or autistic traits may profit from Internet and computer-mediated interactions, but there is concern about their Internet use becoming compulsive. This study investigated the link between autistic traits and Internet use in a 2-wave longitudinal study with a non-clinical community sample (n = 390). As compared to people with less autistic traits, people with more autistic traits did not report a higher frequency of Internet use, but they were more prone to compulsive Internet use. For women, more autistic traits predicted an increase in compulsive Internet use over time. These results suggest that, despite its appeal for people with autistic traits, the Internet carries the risk of compulsive use.
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11. Frazier TW, Keshavan MS, Minshew NJ, Hardan AY. {{A Two-Year Longitudinal MRI Study of the Corpus Callosum in Autism}}. {J Autism Dev Disord};2012 (Feb 18)
A growing body of literature has identified size reductions of the corpus callosum (CC) in autism. However, to our knowledge, no published studies have reported on the growth of CC volumes in youth with autism. Volumes of the total CC and its sub-divisions were obtained from 23 male children with autism and 23 age- and gender-matched controls at baseline and 2-year follow-up. Persistent reductions in total CC volume were observed in participants with autism relative to controls. Only the rostral body subdivision showed a normalization of size over time. Persistent reductions are consistent with the diagnostic stability and life-long impairment observed in many individuals with autism. Multi-modal imaging studies are needed to identify specific fiber tracks contributing to CC reductions.
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12. Gong L, Yan Y, Xie J, Liu H, Sun X. {{Prediction of autism susceptibility genes based on association rules}}. {J Neurosci Res};2012 (Feb 16)
Autism is a complex neuropsychiatric disorder with high heritability and an unclear etiology. The identification of key genes related to autism may elucidate its etiology. The current study provides an approach to predicting autism susceptibility genes. Genes are first extracted from the biomedical literature, and some autism susceptibility genes are then recognized as seeds by the prior knowledge. As candidates, the remaining genes are predicted by creating association rules between the seeds and candidates. In an evaluated data set, 27 autism susceptibility genes (type « Y ») are extracted and 43 possible autism susceptibility genes (type « P ») are predicted. The sum of « Y » and « P » genes accounts for 93.3% of the data set that are not contained in the typical database of autism susceptibility genes. Our approach can effectively extract and predict autism susceptibility genes from the biomedical literature. These predicted results complement the typical database of autism susceptibility genes. The web portal for the predicted results, which is freely available at http://biolab.hyit.edu.cn/ar, can be a valuable resource in studies of diseases related to genes. (c) 2012 Wiley Peridicals, Inc.
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13. Hardan AY, Fung LK, Libove RA, Obukhanych TV, Nair S, Herzenberg LA, Frazier TW, Tirouvanziam R. {{A Randomized Controlled Pilot Trial of Oral N-Acetylcysteine in Children with Autism}}. {Biol Psychiatry};2012 (Feb 17)
BACKGROUND: An imbalance in the excitatory/inhibitory systems with abnormalities in the glutamatergic pathways has been implicated in the pathophysiology of autism. Furthermore, chronic redox imbalance was also recently linked to this disorder. The goal of this pilot study was to assess the feasibility of using oral N-acetylcysteine (NAC), a glutamatergic modulator and an antioxidant, in the treatment of behavioral disturbance in children with autism. METHODS: This was a 12-week, double-blind, randomized, placebo-controlled study of NAC in children with autistic disorder. Subjects randomized to NAC were initiated at 900 mg daily for 4 weeks, then 900 mg twice daily for 4 weeks and 900 mg three times daily for 4 weeks. The primary behavioral measure (Aberrant Behavior Checklist [ABC] irritability subscale) and safety measures were performed at baseline and 4, 8, and 12 weeks. Secondary measures included the ABC stereotypy subscale, Repetitive Behavior Scale-Revised, and Social Responsiveness Scale. RESULTS: Thirty-three subjects (31 male subjects, 2 female subjects; aged 3.2-10.7 years) were randomized in the study. Follow-up data was available on 14 subjects in the NAC group and 15 in the placebo group. Oral NAC was well tolerated with limited side effects. Compared with placebo, NAC resulted in significant improvements on ABC irritability subscale (F = 6.80; p < .001; d = .96). CONCLUSIONS: Data from this pilot investigation support the potential usefulness of NAC for treating irritability in children with autistic disorder. Large randomized controlled investigations are warranted.
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14. Ikeda J, Davitt BV, Ultmann M, Maxim R, Cruz OA. {{Brief Report: Incidence of Ophthalmologic Disorders in Children with Autism}}. {J Autism Dev Disord};2012 (Feb 21)
Purpose To determine the incidence of ophthalmologic disorders in children with autism and related disorders. Design Retrospective chart review. Four hundred and seven children diagnosed with autism or a related disorder between 1998 and 2006. one hundred and fifty-four of these children completed a comprehensive ophthalmology exam by a pediatric ophthalmologist. Results Ophthalmologic pathology was found in 40% of patients with autism or a related disorder with 29% having significant refractive errors, 21% demonstrating strabismus, and 10% having amblyopia. Conclusions Children with autism or a related disorder will frequently have an ophthalmologic abnormality. Since cooperation with vision screening is understandably limited in these children, a comprehensive eye examination by a pediatric ophthalmologist is recommended for all such children.
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15. Isaksen J, Diseth TH, Schjolberg S, Skjeldal OH. {{Observed prevalence of autism spectrum disorders in two Norwegian counties}}. {Eur J Paediatr Neurol};2012 (Feb 17)
BACKGROUND: The prevalence of autism spectrum disorders (ASD) has previously been reported to be increasing dramatically in European and non-European countries. No similar increase in prevalence rates has been documented in Norway to date. The current study reports on ASD prevalence rates in two Norwegian counties. METHODS: The population comprised 31 015 children, ages six to 12. Information about special needs services was provided by the school authorities and the public health service. Multiple search strategies were applied to identify children at risk of ASD or diagnosed with ASD. Hospital registers were searched and a mapping tool was used in all local schools. RESULTS: The total number of patients with ASD found in the population was 158. This gives a prevalence of 51 per 10 000 (95% CI, 0.43-0.59). CONCLUSION: Compared with the previously reported prevalence of ASD in Norway, there has been almost a fourfold increase in the occurrence of childhood autism and a tenfold increase in the occurrence of all ASD groups. These findings have significant implications for designing and dimensioning appropriate intervention programmes for children with ASD and their families.
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16. Kawasaki E, Mishima Y, Ito T, Ito A, Takaseya H, Kameyama N, Fukugasako H, Ushijima K. {{[Anesthetic management of a patient with Rett syndrome associated with trismus and apnea attacks]}}. {Masui};2012 (Jan);61(1):96-99.
Rett syndrome (RTT) is a congenital neurological disorder associated with mutations in the gene encoding MECP2 on the X chromosome. An 18-year-old woman (150 cm in height and 29 kg in weight) had been diagnosed with RTT and showed myotonic trismus, frequent attacks of apnea, mental retardation, spastic paraplegia, scoliosis, and microcephalus with micrognathia. She was scheduled to undergo laparoscopic fundoplication and gastrostomy under general anesthesia. Nasal bronchofiberscopic intubation (BFI) was planned because difficult airway due to trismus and micrognathia was expected. Referring to the bispectral index (BIS), anesthesia was induced with intermittent intravenous thiopental (total 125 mg), resulting in successful opening of the mouth by 1.5 of a finger width and establishment of manual ventilation. Following intravenous administration of rocuronium (20 mg), oral BFI was easily accomplished despite Cormack grade III. Anesthesia was satisfactorily maintained with inhalation of sevoflurane (1.0-1.5%) and continuous infusion of remifentanil (0.1-0.2 microg x kg(-1) x min(-1)) with the BIS value ranging from 30 to 50. She recovered smoothly from anesthesia using sugammadex (50 mg). However, she immediately demonstrated trismus and an attack of apnea with shivering, which were successfully resolved by warming the body and intravenous fentanyl (50 microg bolus and subsequent infusion at a rate of 10 microg x hr(-1)). The postoperative course was uneventful. Characteristically, RTT shows an extremely wide range of neurological symptoms. Therefore, it is of great importance to respond to each of those symptoms during the perioperative management of patients with RTT.
17. Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, Chaste P, Ey E, Rastam M, Anckarsater H, Nygren G, Gillberg IC, Melke J, Toro R, Regnault B, Fauchereau F, Mercati O, Lemiere N, Skuse D, Poot M, Holt R, Monaco AP, Jarvela I, Kantojarvi K, Vanhala R, Curran S, Collier DA, Bolton P, Chiocchetti A, Klauck SM, Poustka F, Freitag CM, Waltes R, Kopp M, Duketis E, Bacchelli E, Minopoli F, Ruta L, Battaglia A, Mazzone L, Maestrini E, Sequeira AF, Oliveira B, Vicente A, Oliveira G, Pinto D, Scherer SW, Zelenika D, Delepine M, Lathrop M, Bonneau D, Guinchat V, Devillard F, Assouline B, Mouren MC, Leboyer M, Gillberg C, Boeckers TM, Bourgeron T. {{Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders}}. {PLoS Genet};2012 (Feb);8(2):e1002521.
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n = 396 patients and n = 659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P = 0.004, OR = 2.37, 95% CI = 1.23-4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P = 0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11-q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the « multiple hit model » for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD.
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18. Malhi P, Singhi P. {{Regression in Children with Autism Spectrum Disorders}}. {Indian J Pediatr};2012 (Feb 15)
OBJECTIVES: To understand the characteristics of autistic regression and to compare the clinical and developmental profile of children with autism spectrum disorders (ASD) in whom parents report developmental regression with age matched ASD children in whom no regression is reported. METHODS: Participants were 35 (Mean age = 3.57 y, SD = 1.09) children with ASD in whom parents reported developmental regression before age 3 y and a group of age and IQ matched 35 ASD children in whom parents did not report regression. All children were recruited from the outpatient Child Psychology Clinic of the Department of Pediatrics of a tertiary care teaching hospital in North India. Multi-disciplinary evaluations including neurological, diagnostic, cognitive, and behavioral assessments were done. Parents were asked in detail about the age at onset of regression, type of regression, milestones lost, and event, if any, related to the regression. In addition, the Childhood Autism Rating Scale (CARS) was administered to assess symptom severity. RESULTS: The mean age at regression was 22.43 mo (SD = 6.57) and large majority (66.7%) of the parents reported regression between 12 and 24 mo. Most (75%) of the parents of the regression-autistic group reported regression in the language domain, particularly in the expressive language sector, usually between 18 and 24 mo of age. Regression of language was not an isolated phenomenon and regression in other domains was also reported including social skills (75%), cognition (31.25%). In majority of the cases (75%) the regression reported was slow and subtle. There were no significant differences in the motor, social, self help, and communication functioning between the two groups as measured by the DP II.There were also no significant differences between the two groups on the total CARS score and total number of DSM IV symptoms endorsed. However, the regressed children had significantly (t = 2.36, P = .021) more social deficits as per the DSM IV as compared to the non-regressed children with autism. CONCLUSIONS: Autism with regression is not characterized by a distinctive developmental or symptom profile. Developmental regression may, however, be an early and reliable marker in a significant number of children with autism.
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19. Maljaars J, Noens I, Scholte E, van Berckelaer-Onnes I. {{Language in Low-Functioning Children with Autistic Disorder: Differences Between Receptive and Expressive Skills and Concurrent Predictors of Language}}. {J Autism Dev Disord};2012 (Feb 21)
Language profiles of children with autistic disorder and intellectual disability (n = 36) were significantly different from the comparison groups of children with intellectual disability (n = 26) and typically developing children (n = 34). The group low-functioning children with autistic disorder obtained a higher mean score on expressive than on receptive language, whereas both comparison groups showed the reverse pattern. Nonverbal mental age, joint attention, and symbolic understanding of pictures were analyzed in relation to concurrent receptive and expressive language abilities. In the group with autistic disorder and intellectual disability, symbol understanding and joint attention were most strongly related to language abilities. Nonverbal mental age was the most important predictor of language abilities in the comparison groups.
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20. Markoulakis R, Scharoun SM, Bryden PJ, Fletcher PC. {{An Examination of Handedness and Footedness in Children with High Functioning Autism and Asperger Syndrome}}. {J Autism Dev Disord};2012 (Feb 21)
Motor control deficits have been documented in children with high functioning autism and Asperger syndrome (HFA/AS), but the extent to which these disorders affect the children’s footedness must be delineated. Twelve typically developing (TD) children and 12 children with HFA/AS, ages 6-9 years, were recruited. Motor control skills were assessed through a variety of footedness tasks to determine location and nature of impairment, regarding motor dominance. Overall, greater inconsistencies in dominance arose in children with HFA/AS, through disparities in measures of preference. Results will have broader implications for understanding motor impairments in children with HFA/AS as determined by comparing performance on footedness tasks, as well as for the design of interventions to account for these deficits.
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21. Marschik PB, Pini G, Bartl-Pokorny KD, Duckworth M, Gugatschka M, Vollmann R, Zappella M, Einspieler C. {{Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant}}. {Dev Med Child Neurol};2012 (Feb 21)
Aim Our aim was to contribute new findings related to the pre-regressional verbal development of females with a variant of Rett syndrome (RTT) as the loss of spoken language is one of the key clinical features of RTT, and it would be of particular interest to study the early speech-language development of females who are considered to have preserved some speech-language abilities. Method We analysed 461 minutes of audio-video recordings containing play situations and the daily routines of six females (aged 7 to 24 months; mean birthweight 3057g, SD 195g) with the preserved speech variant (PSV) of RTT. All videos were recorded by parents and analysed retrospectively after the diagnosis PSV was made. Results From the age of 7 months onwards, we observed two types of vocalizations, appearing intermittently: (1) apparently normal sequences; and (2) atypical (i.e. inhalatory, pressed, or high-pitched crying-like) vocalizations. Some participants failed to reach the milestone of canonical babbling. We observed a limited phonological and lexical complexity and a restricted compositional variability. Volubility was reduced during the whole period under observation. Hand stereotypies with simultaneous atypical vocalizations appeared only during the second year of life. Interpretation The intermittent character of normal versus abnormal verbal behaviours might contribute to an early identification of children with a possible genetic mutation, and provides evidence that speech-language functions are abnormal from the very beginning.
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22. Mechling LC, Ayres KM. {{A Comparative Study: Completion of Fine Motor Office Related Tasks by High School Students with Autism Using Video Models on Large and Small Screen Sizes}}. {J Autism Dev Disord};2012 (Feb 22)
The purpose of this investigation was to compare fine motor task completion when using video models presented on a smaller screen size (Personal Digital Assistant) compared to a larger laptop screen size. The investigation included four high school students with autism spectrum disorders and mild to moderate intellectual disabilities and used an adapted alternating treatments design with baseline, extended baseline, comparison, and final treatment conditions. Results showed that although independent completion of fine motor office related tasks increased under both procedures, use of video models on the larger screen resulted in a higher percentage of correct responses across all four students.
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23. Patra S, Arun P. {{Use of Indian scale for assessment of autism in child guidance clinic: an experience}}. {Indian J Psychol Med};2011 (Jul);33(2):217-219.
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24. Pedersen A, Pettygrove S, Meaney FJ, Mancilla K, Gotschall K, Kessler DB, Grebe TA, Cunniff C. {{Prevalence of Autism Spectrum Disorders in Hispanic and Non-Hispanic White Children}}. {Pediatrics};2012 (Feb 20)
OBJECTIVE:The number of individuals diagnosed with autism spectrum disorders (ASDs) continues to increase in the United States and other developed countries; however, ASD is diagnosed less commonly in Hispanic than in non-Hispanic white individuals. This report analyzes differences in ASD prevalence between Hispanic and non-Hispanic whites in a large, population-based sample of 8-year-old children, and explores how prevalence has changed over time.METHODS:Population-based surveillance of ASD was conducted on 142 717 8-year-old children. Evaluation of clinical and educational records resulted in 1212 children meeting the case definition criteria in 4 study years between 2000 and 2006.RESULTS:ASD prevalence in Hispanic children was lower than in non-Hispanic white children (P < .005) for all study years. More Hispanic than non-Hispanic white children met the case definition for intellectual disability (P < .05) in study years 2004 and 2006. Prevalence of ASD diagnosis increased in both groups; the Hispanic prevalence almost tripled, from 2.7 per 1000 in 2000 to 7.9 per 1000 in 2006. A comparison of prevalence ratios found that Hispanic and non-Hispanic white ASD prevalence became significantly more similar from 2000 to 2006 (chi(2) = 124.89, P < .001).CONCLUSIONS:The ASD prevalence for Hispanic individuals in this population-based sample is substantially higher than previously reported. Nonetheless, Hispanic children continue to have a significantly lower ASD prevalence in comparison with non-Hispanic whites. The prevalence of ASD is increasing in both populations, and results indicate that the gap in prevalence between groups is decreasing.
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25. Pelletier AL, Mittal VA. {{An autism dimension for schizophrenia in the next diagnostic and statistical manual?}}. {Schizophr Res};2012 (Feb 17)
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26. Ray-Subramanian CE, Ellis Weismer S. {{Receptive and Expressive Language as Predictors of Restricted and Repetitive Behaviors in Young Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2012 (Feb 16)
This study examined whether language skills and nonverbal cognitive skills were associated with clinician-observed restricted and repetitive behaviors (RRBs) in a sample of 115 children with autism spectrum disorders (ASD) at ages 2 and 3. By age 3, RRBs were significantly negatively correlated with receptive and expressive language, as well as nonverbal cognitive skills. Increases in receptive and expressive language from age 2 to 3 significantly predicted decreases in RRBs, controlling for age in months, time between visits, and gains in nonverbal cognitive skills. This study contributes to the limited research that has examined early patterns and predictors of RRBs in young children with ASD.
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27. Reichow B, Naples A, Steinhoff T, Halpern J, Volkmar FR. {{Brief Report: Consistency of Search Engine Rankings for Autism Websites}}. {J Autism Dev Disord};2012 (Feb 21)
The World Wide Web is one of the most common methods used by parents to find information on autism spectrum disorders and most consumers find information through search engines such as Google or Bing. However, little is known about how the search engines operate or the consistency of the results that are returned over time. This study presents the results of analyses of searches from 2009, 2010, and 2011 for information on autism. We found that over time, consumers are likely to have different search experiences yielding different results, and we urge consumers to use caution when using the World Wide Web to obtain information on autism.
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28. Saalasti S, Tiippana K, Katsyri J, Sams M. {{Erratum to: The effect of visual spatial attention on audiovisual speech perception in adults with Asperger syndrome}}. {Exp Brain Res};2012 (Feb 15)
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29. Schendel DE, Diguiseppi C, Croen LA, Fallin MD, Reed PL, Schieve LA, Wiggins LD, Daniels J, Grether J, Levy SE, Miller L, Newschaffer C, Pinto-Martin J, Robinson C, Windham GC, Alexander A, Aylsworth AS, Bernal P, Bonner JD, Blaskey L, Bradley C, Collins J, Ferretti CJ, Farzadegan H, Giarelli E, Harvey M, Hepburn S, Herr M, Kaparich K, Landa R, Lee LC, Levenseller B, Meyerer S, Rahbar MH, Ratchford A, Reynolds A, Rosenberg S, Rusyniak J, Shapira SK, Smith K, Souders M, Thompson PA, Young L, Yeargin-Allsopp M. {{The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network}}. {J Autism Dev Disord};2012 (Feb 17)
The Study to Explore Early Development (SEED), a multisite investigation addressing knowledge gaps in autism phenotype and etiology, aims to: (1) characterize the autism behavioral phenotype and associated developmental, medical, and behavioral conditions and (2) investigate genetic and environmental risks with emphasis on immunologic, hormonal, gastrointestinal, and sociodemographic characteristics. SEED uses a case-control design with population-based ascertainment of children aged 2-5 years with an autism spectrum disorder (ASD) and children in two control groups-one from the general population and one with non-ASD developmental problems. Data from parent-completed questionnaires, interviews, clinical evaluations, biospecimen sampling, and medical record abstraction focus on the prenatal and early postnatal periods. SEED is a valuable resource for testing hypotheses regarding ASD characteristics and causes.
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30. van Alphen SP, Oude Voshaar RC. {{Screening of autism spectrum disorders in the elderly: a contribution to a psychometric approach}}. {Int Psychogeriatr};2012 (Feb 20):1-2.
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31. Wong C, Kasari C. {{Play and Joint Attention of Children with Autism in the Preschool Special Education Classroom}}. {J Autism Dev Disord};2012 (Feb 17)
The purpose of this study was to examine play and joint attention in children with autism (n=27) as compared to children with other developmental delays (n=28) in public preschool special education classrooms. The participants were observed in their classroom environment for 2 h over 3 separate days. Results show that children with autism spent more of their time unengaged and less time engaged in symbolic play and joint attention behaviors as compared to children with other developmental delays. Additionally, teachers seldom focused directly on symbolic play and joint attention in their teaching. These findings suggest the importance of educating teachers to target play and joint attention skills in their preschool special education classes, specifically for children with autism.
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32. Woolfenden S, Sarkozy V, Ridley G, Coory M, Williams K. {{A systematic review of two outcomes in autism spectrum disorder – epilepsy and mortality}}. {Dev Med Child Neurol};2012 (Feb 21)
Aim It has been reported that rates of epilepsy and mortality are higher among the population with autism spectrum disorder (ASD) than in the general population. The aim of this systematic review is to provide comprehensive evidence for clinicians, carers, and people with ASD regarding these outcomes. Method Studies were eligible for inclusion if the main focus of the study involved observation over a period of 12 months or more of an initially defined population (with appropriate diagnostic label). Studies were also required to have at least 30 participants in order to differentiate case series from cohort studies. The Cochrane Database of Systematic Reviews, the Database of Reviews of Effectiveness, MEDLINE, PsycINFO, EMBASE, and CINAHL were searched. The date of the last search was September 2010. The risk of bias of included studies was assessed and a meta-analysis was undertaken. Results Twenty-one studies were identified, 16 measuring the percentage of participants with epilepsy and five measuring mortality using a standardized mortality ratio. The pooled estimate for the percentage of participants with epilepsy was 1.8% (95% CI 0.4-9.4%) in studies in which the majority did not have an intellectual disability and the mean age was <12 years at follow-up, and 23.7% (95% CI 17.5-30.5%) in studies in which the majority did have an intellectual disability and the mean age at follow-up was more than 12 years. The pooled estimate for the standardized mortality ratio was 2.8 (95% CI 1.8-4.2). Interpretation The prevalence of epilepsy is higher among the population with ASD than in the general population. People with ASD have a higher risk of mortality than the general population. This has important health promotion implications.
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33. Xie T, Goodman R, Browner N, Haberfeld E, Winfield L, Goldman J, Ford B. {{Treatment of fragile X-associated tremor/ataxia syndrome with unilateral deep brain stimulation}}. {Mov Disord};2012 (Feb 16)
