1. {{Genetic defects behind fragile X-related disorders more common: Researchers find the incidence of one type of FMR1 allele double its previous estimate in males}}. {Am J Med Genet A};2013 (Apr);161(4):x-xi.
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2. {{On alert for autism spectrum disorders}}. {Nursing};2013 (Apr);43(4):34-35.
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3. Abel KM, Dalman C, Svensson AC, Susser E, Dal H, Idring S, Webb RT, Rai D, Magnusson C. {{Deviance in fetal growth and risk of autism spectrum disorder}}. {Am J Psychiatry};2013 (Apr 1);170(4):391-398.
OBJECTIVE Understanding the relationship between fetal growth and autism spectrum disorder (ASD) is likely to advance the search for genetic and nongenetic causes of ASD. The authors explored the associations between fetal growth, gestational age, and ASD with and without comorbid intellectual disability in a Scandinavian study population. METHOD The authors conducted a matched nested case-control study within the Stockholm Youth Cohort that included all children ages 0-17 who resided in Stockholm County from 2001 to 2007 (N=589,114). The authors identified 4,283 children with ASD: 1,755 with intellectual disability and 2,528 without, and they selected 36,588 age- and sex-matched comparison subjects. ASD case subjects were ascertained from unique identifiers assigned to all Swedish residents and linkage with official registers covering all pathways of assessment or care of ASD in Stockholm County. The authors calculated z scores of deviance in fetal growth from a reference curve using records from the national Swedish Medical Birth Registry, which included ultrasound dating of gestational age as well as birth weight. Crude and adjusted odds ratios for ASD, ASD with intellectual disability, and ASD without intellectual disability were the main outcome measures. RESULTS ASD risk increased with fetal growth 1.50 standard deviations below and >2.00 standard deviations above the mean for gestational age; the greatest risk was for fetal growth that was less than 2.00 standard deviations below the mean (adjusted odds ratio=1.70; 95% CI=1.44-2.01) or greater than 2.00 standard deviations above the mean (adjusted odds ratio=1.50; 95% CI=1.27-1.77). The same overall pattern was observed for ASD with and without intellectual disabilities. However, poor fetal growth (i.e., growth below the mean) was more strongly associated with ASD with intellectual disabilities than without. Regardless of fetal growth, preterm birth increased ASD risk. CONCLUSIONS Deviance in fetal growth at either distributional extreme may be a significant antecedent to the development of ASD through genetic and/or nongenetic mechanisms.
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4. An J, Hodge SR. {{Exploring the meaning of parental involvement in physical education for students with developmental disabilities}}. {Adapt Phys Activ Q};2013 (Apr);30(2):147-163.
The purpose of this phenomenological inquiry was to explore the experiences and meaning of parental involvement in physical education from the perspectives of the parents of students with developmental disabilities. The stories of four mothers of elementary aged children (3 boys, 1 girl), two mothers and one couple (mother and father) of secondary-aged youth (1 girl, 2 boys) with developmental disabilities, were gathered by using interviews, photographs, school documents, and the researcher’s journal. Bronfenbrenner’s (2005) ecological system theory provided a conceptual framework to interpret the findings of this inquiry. Three themes emerged from thematic analysis: being an advocate for my child, understanding the big picture, and collaborative partnerships undeveloped in GPE. The findings lend additional support to the need for establishing collaborative partnerships in physical education between home and school environments (An & Goodwin, 2007; Tekin, 2011).
5. Atbasoglu EC, Sakarya D, Gumus Akay G, Sakarya A, Tukun A. {{[Fragile x premutation in adult psychiatry: four cases and overview of clinical presentation]}}. {Turk Psikiyatri Derg};2013 (Spring);24(1):63-67.
Fragile X carrier status, also named as Fragile X premutation (FraX-PM), is defined by trinucleotide repeat expansions of shorter length compared to those that cause the full syndrome. Its clinical significance has been limited to the risk of further expansion to a full mutation in the offspring of carriers, until it was recently recognized as a clinical syndrome on its own, manifested by unique symptom constellations, as well as a combination of neuropsychiatric signs and symptoms that may be indistinguishable from several commonly seen disorders. The complex heterogeneity of its neuropsychiatric manifestations may render the diagnosis challenging, unless the clinician is familiar with the clinical picture and transmission pattern. We present four cases of FraX-PM, diagnosed in an adult psychiatry setting and confirmed by genetic testing. The aim of this report is to increase familiarity among psychiatric practitioners, since this common condition is seldom included in the current diagnostic practice, which is based on atheoretical definitions.
6. Badia M, Orgaz MB, Verdugo MA, Ullan AM. {{Patterns and determinants of leisure participation of youth and adults with developmental disabilities}}. {J Intellect Disabil Res};2013 (Apr);57(4):319-332.
Background People with developmental disabilities are at high risk for a limited participation in leisure activities. The aim of this study was to investigate the participation in, preference for and interest in leisure activities of young and adults with developmental disabilities, and to examine the factors associated with leisure activity. Methods A cross-sectional design was used with a convenience sample of 237 people aged 17 to 65, living in the community. Leisure participation was assessed with the Spanish version of Leisure Assessment Inventory. Percentages were calculated by types of activity, and repeated measures anovas were used to analyse the differences between types of activities, and mixed anovas to analyse the factors that explain differences in leisure activity participation, preference and interest. Results Leisure social activities and recreation activities at home were mostly solitary and passive in nature and were identified as those being most commonly engaged in. Respondents expressed preference for more social and physical activity, and they were interested in trying out a large number of physical activities. Age and type of schooling determine participation in leisure activity. The results underscore the differences in leisure activity participation, preference and interest depending on the severity of the disability. Conclusions The findings reveal interesting patterns of participation in leisure activities from the viewpoint of youngsters and adults with developmental disabilities. Leisure participation among people with developmental disabilities is likely to be more affected by environmental factors than by personal factors.
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7. Barger BD, Campbell JM, McDonough JD. {{Prevalence and Onset of Regression within Autism Spectrum Disorders: A Meta-analytic Review}}. {J Autism Dev Disord};2013 (Apr);43(4):817-828.
Rates and onset of regression were meta-analyzed from 85 articles representing 29,035 participants with autism spectrum disorders (ASD). Overall prevalence rate for regression was 32.1, 95 % CI [29.5, 34.8] occurring at mean of 1.78 years, 95 % CI [1.67, 1.89]. Regression prevalence rates differed according to four types of regression: language regression, 24.9 %; language/social regression, 38.1 %; mixed regression, 32.5 %; and unspecified regression, 39.1 %. Regression prevalence also differed according to sampling method: population-based prevalence was 21.8 %, clinic-based prevalence was 33.6 %, and parent survey-based prevalence was 40.8 %. Risk of regression was equal for males and females, but higher for individuals diagnosed with autism versus another ASD. Later age of regression onset was predicted by older age of child.
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8. Bearss K, Johnson C, Handen B, Smith T, Scahill L. {{A pilot study of parent training in young children with autism spectrum disorders and disruptive behavior}}. {J Autism Dev Disord};2013 (Apr);43(4):829-840.
Guidance on effective interventions for disruptive behavior in young children with autism spectrum disorders (ASDs) is limited. We present feasibility and initial efficacy data on a structured parent training program for 16 children (ages 3-6) with ASD and disruptive behavior. The 6-month intervention included 11 Core and up to 2 Optional sessions. The program was acceptable to parents as evidenced by an attendance rate of 84 % for Core sessions. Fourteen of 16 families completed the treatment. An independent clinician rated 14 of 16 subjects as much improved or very much improved at Week 24. Using last observation carried forward, the parent-rated Aberrant Behavior Checklist-Irritability subscale decreased 54 % from 16.00 (SD = 9.21) to 7.38 (SD = 6.15).
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9. Bekele E, Zheng Z, Swanson A, Crittendon J, Warren Z, Sarkar N. {{Understanding how adolescents with autism respond to facial expressions in virtual reality environments}}. {IEEE Trans Vis Comput Graph};2013 (Apr);19(4):711-720.
Autism Spectrum Disorders (ASD) are characterized by atypical patterns of behaviors and impairments in social communication. Among the fundamental social impairments in the ASD population are challenges in appropriately recognizing and responding to facial expressions. Traditional intervention approaches often require intensive support and well-trained therapists to address core deficits, with many with ASD having tremendous difficulty accessing such care due to lack of available trained therapists as well as intervention costs. As a result, emerging technology such as virtual reality (VR) has the potential to offer useful technology-enabled intervention systems. In this paper, an innovative VR-based facial emotional expression presentation system was developed that allows monitoring of eye gaze and physiological signals related to emotion identification to explore new efficient therapeutic paradigms. A usability study of this new system involving ten adolescents with ASD and ten typically developing adolescents as a control group was performed. The eye tracking and physiological data were analyzed to determine intragroup and intergroup variations of gaze and physiological patterns. Performance data, eye tracking indices and physiological features indicated that there were differences in the way adolescents with ASD process and recognize emotional faces compared to their typically developing peers. These results will be used in the future for an online adaptive VR-based multimodal social interaction system to improve emotion recognition abilities of individuals with ASD.
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10. Bekhet AK, Zauszniewski JA. {{Psychometric assessment of the depressive cognition scale among caregivers of persons with autism spectrum disorder}}. {Arch Psychiatr Nurs};2013 (Apr);27(2):96-100.
Caregivers of persons with autism spectrum disorders (ASD) are prone to depression, and early identification of cognitive depressive symptoms is important to prevent the development of clinical depression. The Depressive Cognition Scale (DCS) can be used for early detection, but the scale’s psychometrics has not been tested in caregivers of persons with ASD. In this study, 95 caregivers of persons with ASD completed the eight-item DCS and measures of caregiver burden and resourcefulness. A Cronbach’s alpha of .90 indicated internal consistency. Construct validity was supported by significant correlations with caregiver burden (.59) and resourcefulness (-.57). Principal component factor analysis produced a single factor with 58% of the variance explained. The findings suggest the DCS is useful for early detection of depression in caregivers of persons with ASD.
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11. Bons D, van den Broek E, Scheepers F, Herpers P, Rommelse N, Buitelaaar JK. {{Motor, emotional, and cognitive empathy in children and adolescents with autism spectrum disorder and conduct disorder}}. {J Abnorm Child Psychol};2013 (Apr);41(3):425-443.
It is unclear which aspects of empathy are shared and which are uniquely affected in autism spectrum disorder (ASD) and conduct disorder (CD) as are the neurobiological correlates of these empathy impairments. The aim of this systematic review is to describe the overlap and specificity of motor, emotional, and cognitive aspects of empathy in children and adolescents with ASD or CD. Motor and cognitive empathy impairments are found in both ASD and CD, yet the specificity seems to differ. In ASD facial mimicry and emotion recognition may be impaired for all basic emotions, whereas in CD this is only the case for negative emotions. Emotional empathy and the role of attention to the eyes therein need further investigation. We hypothesize that impaired motor and cognitive empathy in both disorders are a consequence of lack of attention to the eyes. However, we hypothesize major differences in emotional empathy deficits between ASD and CD, probably due to emotional autonomic and amygdala hyper-responsivity in ASD versus hypo-responsivity in CD, both resulting in lack of attention to the eyes.
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12. Bons D, van den Broek E, Scheepers F, Herpers P, Rommelse N, Buitelaar JK. {{Erratum to: Motor, Emotional, and Cognitive Empathy in Children and Adolescents with Autism Spectrum Disorder and Conduct Disorder}}. {J Abnorm Child Psychol};2013 (Apr);41(3):509.
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13. Brown HM, Oram-Cardy J, Johnson A. {{A meta-analysis of the reading comprehension skills of individuals on the autism spectrum}}. {J Autism Dev Disord};2013 (Apr);43(4):932-955.
This meta-analysis examined 36 studies comparing autism spectrum disorder (ASD) and control groups in reading comprehension. Three moderators (semantic knowledge, decoding skill, PIQ) and two text types (high vs. low social knowledge) were examined as predictors of reading comprehension in ASD. The overall standardized mean difference for reading comprehension was g = -0.7 SD. The strongest individual predictors of reading comprehension were semantic knowledge (explaining 57 % of variance) and decoding skill (explaining 55 % of variance). Individuals with ASD were significantly worse at comprehending highly social than less social texts. Having ASD alone does not predict reading comprehension deficits. Instead, individual skills, especially language ability, must be considered before one can accurately predict whether a given individual with ASD will experience difficulties in reading comprehension.
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14. Byiers B, Symons F. {{The need for unbiased cognitive assessment in Rett syndrome: is eye tracking the answer?}}. {Dev Med Child Neurol};2013 (Apr);55(4):301-302.
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15. Carbone PS, Murphy NA, Norlin C, Azor V, Sheng X, Young PC. {{Parent and pediatrician perspectives regarding the primary care of children with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Apr);43(4):964-972.
Parents of children with autism spectrum disorders (ASD) (n = 144) and primary care providers (PCPs) (n = 144) completed similar surveys assessing the ability of the PCP to address ASD-specific needs. Parents also rated their PCP’s ability to deliver family-centered care. A majority of parents rated their PCP’s ability as « not good » in addressing 14 of 17 ASD-specific needs, while a majority of PCPs rated themselves as « good » in addressing 10 of 17 areas. On 7 of 17 items, parents rated their PCPs lower than PCPs rated themselves. Parents who reported receiving family-centered care were more likely to rate the PCP’s ability to meet ASD specific needs as « good ». Both parents and PCPs identified areas for improvement in caring for children with ASD.
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16. Carter SE, Hanson A, Bravey C, Kabir NA. {{How to use… an autism assessment tool}}. {Arch Dis Child Educ Pract Ed};2013 (Apr);98(2):58-63.
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17. Castro J, Mellios N, Sur M. {{Mechanisms and therapeutic challenges in autism spectrum disorders: insights from Rett syndrome}}. {Curr Opin Neurol};2013 (Apr);26(2):154-159.
PURPOSE OF REVIEW: A major challenge for understanding neurodevelopmental disorders, including autism spectrum disorders (ASDs), is to advance the findings from gene discovery to an exposition of neurobiological mechanisms that underlie these disorders and subsequently translate this knowledge into mechanism-based therapeutics. A promising way to proceed is revealed by the recent studies of rare subsets of ASDs. In this review, we summarize the latest advances in the mechanisms and emerging therapeutics for a rare single-gene ASD, Rett syndrome. RECENT FINDINGS: Rett syndrome is caused by mutations in the gene coding for methyl CpG-binding protein 2 (MeCP2). Although MeCP2 has diverse functions, examination of MeCP2 mutant mice suggests the hypothesis that MeCP2 deficiency leads to aberrant maturation and maintenance of synapses and circuits in multiple brain systems. Some of the deficits arise from alterations in specific intracellular pathways such as the PI3K/Akt signaling pathway. These abnormalities can be at least partially rescued in MeCP2 mutant mice by treatment with therapeutic agents. SUMMARY: Mechanism-based therapeutics are emerging for single-gene neurodevelopmental disorders such as Rett syndrome. Given the complexity of MeCP2 function, future directions include combination therapeutics that target multiple molecules and pathways. Such approaches will likely be applicable to other ASDs as well.
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18. Chebuhar A, McCarthy AM, Bosch J, Baker S. {{Using picture schedules in medical settings for patients with an autism spectrum disorder}}. {J Pediatr Nurs};2013 (Apr);28(2):125-134.
Autism is a neurobiological disorder that compromises ability to communicate and can be accompanied by anxiety, particularly for those in unfamiliar settings with unknown people. To improve communication, children with autism often relate well to pictures; however the literature describes no studies of picture schedules for patients with autism in medical settings. Our pilot project demonstrates how picture schedules for medical settings can relieve anxiety in children with autism and suggests that this approach should be employed as an innovative way to interact with patients with autism.
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19. Chlebowski C, Robins DL, Barton ML, Fein D. {{Large-scale use of the modified checklist for autism in low-risk toddlers}}. {Pediatrics};2013 (Apr);131(4):e1121-1127.
OBJECTIVE: The purpose of the study was to examine use of the Modified Checklist for Autism in Toddlers (M-CHAT) as an autism-specific screening instrument in a large, geographically diverse pediatrics-based sample. METHODS: The M-CHAT and the M-CHAT Follow-Up (M-CHAT/F) were used to screen 18 989 toddlers at pediatric well-child visits in 2 US geographic regions. Pediatricians directly referred children to ascertain potential missed screening cases. Screen-positive children received the M-CHAT/F; children who continued to screen positive after the M-CHAT/F received a diagnostic evaluation. RESULTS: Results indicated that 54% of children who screened positive on the M-CHAT and M-CHAT/F presented with an autism spectrum disorder (ASD), and 98% presented with clinically significant developmental concerns warranting intervention. An M-CHAT total score cutoff of >/=3 identifies nearly all screen-positive cases, and for ease of scoring the use of only the M-CHAT total score cutoff is recommended. An M-CHAT total score of 7 serves as an appropriate clinical cutoff, and providers can bypass the M-CHAT/F and refer immediately to evaluation and intervention if a child obtains a score of >/=7. CONCLUSIONS: This study provides empirical support for the utility of population screening for ASD with the use of the M-CHAT in a primary care setting. Results suggest that the M-CHAT continues to be an effective screening instrument for ASD when the 2-step screening process is used. The M-CHAT is widely used at pediatric offices, and this study provides updated results to facilitate use and scoring of the M-CHAT by clinical providers.
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20. Cidav Z, Lawer L, Marcus SC, Mandell DS. {{Age-related variation in health service use and associated expenditures among children with autism}}. {J Autism Dev Disord};2013 (Apr);43(4):924-931.
This study examined differences by age in service use and associated expenditures during 2005 for Medicaid-enrolled children with autism spectrum disorders. Aging was associated with significantly higher use and costs for restrictive, institution-based care and lower use and costs for community-based therapeutic services. Total expenditures increased by 5 % with each year of age; by 23 % between 3-5 and 6-11 year olds, 23 % between 6-11 and 12-16, and 14 % between 12-16 and 17-20 year olds. Use of and expenditures for long-term care, psychiatric medications, case management, medication management, day treatment/partial hospitalization, and respite services increased with age; use of and expenditures for occupational/physical therapy, speech therapy, mental health services, diagnostic/assessment services, and family therapy declined.
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21. Cochran D. {{The Autisms, 4th edition}}. {Psychiatr Serv};2013 (Apr 1);64(4):e05.
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22. Crippa A, Forti S, Perego P, Molteni M. {{Eye-Hand Coordination in Children with High Functioning Autism and Asperger’s Disorder Using a Gap-Overlap Paradigm}}. {J Autism Dev Disord};2013 (Apr);43(4):841-850.
We investigated eye-hand coordination in children with autism spectrum disorders (ASD) in comparison with age-matched normally developing peers. The eye-hand correlation was measured by putting fixation latencies in relation with pointing and key pressing responses in visual detection tasks where a gap-overlap paradigm was used and compared to fixation latencies in absence of manual response. ASD patients showed less efficient eye-hand coordination, which was particularly evident when pointing towards a target was being fixated. The data of normally developing participants confirmed that manual gap effects are more likely for more complex hand movements. An important discrepancy was discovered in participants with ASD: beside normal eye gap effects, they showed no concurrent hand gap effects when pointing to targets. This result has been interpreted as a further sign of inefficient eye-hand coordination in this patient population.
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23. Davidovitch M, Hemo B, Manning-Courtney P, Fombonne E. {{Prevalence and incidence of autism spectrum disorder in an israeli population}}. {J Autism Dev Disord};2013 (Apr);43(4):785-793.
The prevalence of autism spectrum disorders has been steadily rising. In most parts of the world, rates as high as 1 % are reported, including in the United States. In Israel, previously reported prevalence rates have been in the 0.2 % range, and were based on parental reporting of diagnosis. In this study, records from one of the largest Israeli Health Maintenance organizations were used to calculate both incidence and prevalence of autism spectrum disorder (ASD) in Israel. Israeli prevalence of ASD was calculated at 0.48 % for 1-12 years olds and 0.65 % for 8 year old children in 2010, higher than previous Israeli reports, but still lower than prevalence estimates for the US. Incidence calculations ranged from 0.65 to 0.84 per 1,000 children for children 1-12 year olds. Reasons for these differences are suggested and discussed.
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24. Dixon G, Clarke C. {{The effect of falsely balanced reporting of the autism-vaccine controversy on vaccine safety perceptions and behavioral intentions}}. {Health Educ Res};2013 (Apr);28(2):352-359.
Controversy surrounding an autism-vaccine link has elicited considerable news media attention. Despite being widely discredited, research suggests that journalists report this controversy by presenting claims both for and against a link in a relatively ‘balanced’ fashion. To investigate how this reporting style influences judgments of vaccine risk, we randomly assigned 320 undergraduate participants to read a news article presenting either claims both for/against an autism-vaccine link, link claims only, no-link claims only or non-health-related information. Participants who read the balanced article were less certain that vaccines are safe, more likely to believe experts were less certain that vaccines are safe and less likely to have their future children vaccinated. Results suggest that balancing conflicting views of the autism-vaccine controversy may lead readers to erroneously infer the state of expert knowledge regarding vaccine safety and negatively impact vaccine intentions.
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25. Duku E, Vaillancourt T, Szatmari P, Georgiades S, Zwaigenbaum L, Smith IM, Bryson S, Fombonne E, Mirenda P, Roberts W, Volden J, Waddell C, Thompson A, Bennett T. {{Investigating the measurement properties of the social responsiveness scale in preschool children with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Apr);43(4):860-868.
The purpose of this study was to examine the measurement properties of the Social Responsiveness Scale in an accelerated longitudinal sample of 4-year-old preschool children with the complementary approaches of categorical confirmatory factor analysis and Rasch analysis. Measurement models based on the literature and other hypothesized measurement models which were tested using categorical confirmatory factor analysis did not fit well and were not unidimensional. Rasch analyses showed that a 30-item subset met criteria of unidimensionality and invariance across item, person, and over time; and this subset exhibited convergent validity with other child outcomes. This subset was shown to have enhanced psychometric properties and could be used in measuring social responsiveness among preschool age children with Autism Spectrum Disorders.
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26. Ecker C, Spooren W, Murphy DG. {{Translational approaches to the biology of Autism: false dawn or a new era?}}. {Mol Psychiatry};2013 (Apr);18(4):435-442.
Discovering novel treatments for Autism Spectrum Disorders (ASD) is a challenge. Its etiology and pathology remain largely unknown, the condition shows wide clinical diversity, and case identification is still solely based on symptomatology. Hence clinical trials typically include samples of biologically and clinically heterogeneous individuals. ‘Core deficits’, that is, deficits common to all individuals with ASD, are thus inherently difficult to find. Nevertheless, recent reports suggest that new opportunities are emerging, which may help develop new treatments and biomarkers for the condition. Most important, several risk gene variants have now been identified that significantly contribute to ASD susceptibility, many linked to synaptic functioning, excitation-inhibition balance, and brain connectivity. Second, neuroimaging studies have advanced our understanding of the ‘wider’ neural systems underlying ASD; and significantly contributed to our knowledge of the complex neurobiology associated with the condition. Last, the recent development of powerful multivariate analytical techniques now enable us to use multi-modal information in order to develop complex ‘biomarker systems’, which may in the future be used to assist the behavioral diagnosis, aid patient stratification and predict response to treatment/intervention. The aim of this review is, therefore, to summarize some of these important new findings and highlight their potential significant translational value to the future of ASD research.
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27. Egelhoff K, Lane AE. {{Brief Report: Preliminary Reliability, Construct Validity and Standardization of the Auditory Behavior Questionnaire (ABQ) for Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Apr);43(4):978-984.
The Auditory Behavior Questionnaire (ABQ) evaluates abnormal behavioral responses to auditory stimulation in children with Autism Spectrum Disorder (ASD). This study reports preliminary reliability, construct validity and standardization of the ABQ. Parents of children with ASD aged 7-21 years (n = 165) completed the ABQ on-line. Cronbach’s alpha was 0.94 indicating strong internal consistency. Factor analysis revealed a four-factor structure supporting previous theoretical discussion of global sensory processing difficulties and the construct validity of the ABQ. The 4-factors, (1) Difficulty in Background Noise, (2) Aversive Reactions, (3) Unresponsiveness, and (4) Stereotypic/Repetitive Behaviors, are very similar to Dunning’s (Development of a questionnaire to assess auditory behaviors in children diagnosed with autism spectrum disorders, The Ohio State University, Columbus, 2003) hypothesized factor domains. Standard factor scores for children with ASD are reported.
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28. Erdodi L, Lajiness-O’Neill R, Schmitt TA. {{Learning curve analyses in neurodevelopmental disorders: are children with autism spectrum disorder truly visual learners?}}. {J Autism Dev Disord};2013 (Apr);43(4):880-890.
Visual and auditory verbal learning using a selective reminding format was studied in a mixed clinical sample of children with autism spectrum disorder (ASD) (n = 42), attention-deficit hyperactivity disorder (n = 83), velocardiofacial syndrome (n = 17) and neurotypicals (n = 38) using the Test of Memory and Learning to (1) more thoroughly characterize and examine the integrity of learning and memory processes, (2) to better understand the mechanisms of learning impairment, and (3) to inform instructional practices in ASD. Contrary to expectations, children with ASD demonstrated a relative weakness in the rate of acquisition of visual in contrast to verbal learning compared to neurotypicals. They also showed a complex pattern of consolidation. Overall, between-group differences were more likely to emerge during the visual learning task, suggesting that it may be more sensitive for detecting neurodevelopmental differences. The heuristic value of assessing memory and learning across multiple trials and comparing performance during immediate and delayed recall is discussed.
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29. Gadow KD. {{Association of schizophrenia spectrum and autism spectrum disorder (ASD) symptoms in children with ASD and clinic controls}}. {Res Dev Disabil};2013 (Apr);34(4):1289-1299.
OBJECTIVE: This study examines relations between the severity of specific symptoms of schizophrenia spectrum disorder (SSD) and severity of the three defining symptom domains of autism spectrum disorder (ASD) in children with ASD (N=147) and child psychiatry outpatient referrals (Controls; N=339). METHOD: Participants were subdivided into four groups depending on ASD status (+/-) and whether they met symptom criteria for attention-deficit/hyperactivity disorder (+/-ADHD). Their mothers and teachers evaluated them with a DSM-IV-referenced rating scale. RESULTS: Correlations between schizoid personality symptoms and ASD social skills deficits were moderate to large, and this was true for children with ASD and Controls, regardless of ADHD status, and for mother’s and teachers’ ratings. Conversely, severity of hallucinations, delusions, and disorganized thinking were minimally correlated with ASD severity with the exception of Controls with ADHD. The disorganized behavior and negative symptoms of schizophrenia evidenced the strongest pattern of associations with ASD symptoms, and this was particularly true for children with co-morbid ADHD (+/-ASD, all three ASD symptom dimensions), and for teachers’ ratings of all four groups. Nevertheless, there was considerable variability in relations for specific symptoms across informants and groups. Correlations between SSD symptom severity and IQ were generally low, particularly among the ASD Only group and for all teacher-rated symptoms. CONCLUSION: Associations between ASD and SSD symptoms were often dimension-specific, and this was particularly evident in children without ADHD (+/-ASD; mothers’ ratings). Findings were interpreted as supporting the deconstruction of complex clinical phenotypes as a means of better understanding interrelations among psychiatric syndromes.
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30. Gan SM, Tung LC, Yeh CY, Wang CH. {{ICF-CY based assessment tool for children with autism}}. {Disabil Rehabil};2013 (Apr);35(8):678-685.
Purpose: The objectives of this study was to develop an International Classification of Functioning, Disability and Health-Children and Youth (ICF-CY) based questionnaire for children with autism, investigate the inter-rater reliability of the questionnaire and assess functional performance in children with autism. Method: The ICF-CY based questionnaire for children with autism comprised 118 items was designed with reference the ICF-CY structure. The study protocol was divided into two parts. In the first part, the inter-rater reliability of the questionnaire was investigated using information from 26 children (aged 3-6 years) with autism and using the intra-class correlation coefficients to estimate reliability. The second part of the study aimed to assess functional performance of another independent sample (136 children, aged 3-6 years) utilizing the questionnaire. Mean scores were compared by nonparametric statistic. Results: The inter-rater reliability for each domains of the questionnaire was found to be moderate to high (intra-class correlation coefficients ranged from 0.72 to 0.97). Children with autism had major problems in voice and speech functions. They had high dependency when executing individual activities of learning and applied knowledge. They also required maximal assistance while engaging in social activities related to conversation and major life categories. Conclusions: This preliminary study shows that ICF-CY based questionnaire has good reliability and can reflect the functional profile of preschool children with autism. However, further study is needed to confirm other psychometric characteristics. [Box: see text].
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31. Guglielmo R, Ioime L, Grandinetti P, Janiri L. {{Managing disruptive and compulsive behaviors in adult with autistic disorder with gabapentin}}. {J Clin Psychopharmacol};2013 (Apr);33(2):273-274.
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32. Gunji A, Goto T, Kita Y, Sakuma R, Kokubo N, Koike T, Sakihara K, Kaga M, Inagaki M. {{Facial identity recognition in children with autism spectrum disorders revealed by P300 analysis: A preliminary study}}. {Brain Dev};2013 (Apr);35(4):293-298.
Background: To reveal the neural substrate of communication difficulties in children with autism spectrum disorders (ASDs), we investigated the P300 component of event-related potentials (ERPs) as represented by the average of electroencephalography findings time-locked to events and behavior. Because the P300 amplitude influences attentional resource allocation during discrimination, the component elicited during perception of known and unknown faces should indicate familiarity processing. Methods and results: Nine typically developing children (TD) and nine children with ASDs participated in this study (Experiment 1). The P300 amplitude in TD children was significantly larger during familiar face perception than during unfamiliar face perception (p<0.01). However, there was no evidence of familiarity effect in children with ASDs. In three children with ASDs, we also assessed the P300 amplitude during perception of a therapist's face one month before (baseline), a few days before and after social skills training (SST) sessions (Experiment 2). To evaluate the effect of familiarity on facial identity processing, we analyzed the therapist/unknown ratio of P300 amplitudes related to the face discrimination task as an index. The ratio was larger after SST sessions than before, but there was no difference in the ratio between baseline and before SST assessments. Conclusion: The P300 might be influenced by attentional resource allocation depending on the stage of learning face identification in children with ASDs. We speculate that this approach to evaluating brain responses during facial identity recognition could be used as a tool to clarify children's communication difficulties. Lien vers le texte intégral (Open Access ou abonnement)
33. Hawkins M, Boyle J, Wright KE, Elles R, Ramsden SC, O’Grady A, Sweeney M, Barton DE, Burgess T, Moore M, Burns C, Stacey G, Gray E, Metcalfe P, Hawkins JR. {{Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome}}. {Eur J Hum Genet};2013 (Apr);21(4):478.
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34. Hinckson EA, Dickinson A, Water T, Sands M, Penman L. {{Physical activity, dietary habits and overall health in overweight and obese children and youth with intellectual disability or autism}}. {Res Dev Disabil};2013 (Apr);34(4):1170-1178.
In children and youth with disability, the risk of obesity is higher and is associated with lower levels of physical activity, inappropriate eating behaviors, and chronic health conditions. We determined the effectiveness of a program in managing weight, through changes in physical activity and nutrition behaviors in overweight and obese New Zealand children and youth with intellectual disability or autism. Twenty-two children and youth 14+/-4 y (mean+/-SD) and their families participated in a 10-week school-based program. The program consisted of 18 sessions focusing on physical activity and nutrition. Changes were measured immediately after completion of the program (post 1) and at 24 weeks (follow up). Fitness was assessed with the six-minute walk-test (6MWT) and body fatness via waist circumference and BMI. Physical activity and nutrition changes were measured by means of proxy reporting and interviews with parents. Individual interviews were conducted with school teachers and program leaders at 24 weeks to gain feedback regarding the program. Most quantitative outcomes were either unclear or trivial. The only possible change was observed in the six-minute walk-test where 24 weeks post program where participants walked 51m further. There was however, a substantial reduction in the consumption of confectionery and chocolate at the two measurement points. Parents commented that during the program there were less hospital visits and absences from school related to illness. The program assisted in the development of a supportive community network and participants’ abilities to partake in family and community activities. This the first study to report on the results of a physical activity and nutrition program targeted in children and youth with intellectual disability and autism. The results of this study may support and inform future developments of an integrated weight management and prevention program to enhance the health and well being in children and youth with disabilities.
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35. Hodge D, Hoffman CD, Sweeney DP, Riggs ML. {{Relationship Between Children’s Sleep and Mental Health in Mothers of Children with and Without Autism}}. {J Autism Dev Disord};2013 (Apr);43(4):956-963.
The study employed 90 children with autism spectrum disorders (ASDs) who were matched to 90 typically developing children on age, gender, and ethnicity. Using structural equation modeling, maternal sleep and maternal stress mediated the relationship between children’s sleep and mothers’ mental health for mothers of children with and without ASDs. Mothers of children with ASDs reported more problems related to children’s sleep, their own sleep, greater stress, and poorer mental health; however, children’s sleep and maternal sleep were more closely related to maternal stress for mothers of typically developing children. Implications of these findings and future directions for research are discussed.
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36. Hoogsteen L, Woodgate RL. {{Centering autism within the family: a qualitative approach to autism and the family}}. {J Pediatr Nurs};2013 (Apr);28(2):135-140.
The lived experience of parents of children with autism living in a rural area was explored through a phenomenological approach. Twenty-eight parents from multiple rural communities participated in semi-structured interviews. Van Manen’s (1990) selective highlighting approach was used to isolate thematic statements of the experience. Findings revealed that autism became centered within the family thereby affecting how parents parented. Parenting now included: (a) multiple roles; (b) an intense focus on their child’s needs; and (c) finding a balance. Although parents acquired multiple roles and faced many unmet needs, parents were determined to strive for balance within the family.
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37. Jain R, Juneja M, Sairam S. {{Children with developmental disabilities in India: age of initial concern and referral for rehabilitation services, and reasons for delay in referral}}. {J Child Neurol};2013 (Apr);28(4):455-460.
This study aimed to identify the age at first concern and age at referral for rehabilitation services in children with developmental disabilities in India. Two hundred fifty-nine children were included and data were collected from the parents. In children with developmental disabilities (excluding autism spectrum disorders), median age at initial concern was 7 months and age at referral for rehabilitation services was 13 months. In children with autism spectrum disorders, median age at initial concern was 24 months and age at referral was 42 months. Physician’s recognition of the condition, single child, institutional delivery and neonatal admission >/=4 days were associated with early referral. The common reasons cited by the parents for delay in services were reassurance by physicians or family members and nonreferral by the physicians. Thus, routine screening for developmental problems (including autism) and improving the awareness of these conditions among physicians and society would lead to early referral.
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38. Kilsby AJ, Cruwys M, Kukendrajah C, Russell-Eggitt I, Raglan E, Rajput K, Loshe P, Brady AF. {{Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder}}. {Clin Dysmorphol};2013 (Apr);22(2):64-67.
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39. Legisa J, Messinger DS, Kermol E, Marlier L. {{Emotional responses to odors in children with high-functioning autism: autonomic arousal, facial behavior and self-report}}. {J Autism Dev Disord};2013 (Apr);43(4):869-879.
Although emotional functioning is impaired in children with autism, it is unclear if this impairment is due to difficulties with facial expression, autonomic responsiveness, or the verbal description of emotional states. To shed light on this issue, we examined responses to pleasant and unpleasant odors in eight children (8-14 years) with high-functioning autism and 8 age-matched typically developing controls. Despite subtle differences in the facial actions of the children with autism, children in both groups had similar facial and autonomic emotional responses to the odors. However, children with autism were less likely than controls to report an emotional reaction to the odors that matched their facial expression, suggesting difficulties in the self report of emotional states.
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40. Limoges E, Bolduc C, Berthiaume C, Mottron L, Godbout R. {{Relationship between poor sleep and daytime cognitive performance in young adults with autism}}. {Res Dev Disabil};2013 (Apr);34(4):1322-1335.
Poor sleep is a common feature in autism even though patients themselves do not necessarily complain. The impact of poor sleep on daytime cognitive functioning in autism is not well-known and we therefore investigated whether sleep in autism correlates with daytime cognitive performance. A battery of non-verbal tasks was administered, in the morning after a second night of sleep in the laboratory, to 17 young adults with autism and normal intelligence, and 14 typically developed individuals matched for age and IQ; none of the participants complained about sleep problems. Two dimensions of attention (sustained and selective) and 4 types of memory (working, declarative, sensory-motor and cognitive procedural) were tested. Individuals with autism showed clear signs of poor sleep. Their performance differed from the controls in response speed but not in accuracy. Signs of poor sleep in the autism group were significantly correlated with either normal performance (selective attention and declarative memory) or performance inferior to that of the controls (sensory-motor and cognitive procedural memories). Both groups presented a significant negative correlation between slow-wave sleep (SWS) and learning a sensory-motor procedural memory task. Only control participants showed a positive association between SWS duration and number of figures recalled on the declarative memory task. Correlation patterns differed between groups when sleep spindles were considered: they were negatively associated with number of trials needed to learn the sensory-motor procedural memory task in autism and with reaction time and number of errors on selective attention in the controls. Correlation between rapid eye movements (REMs) in REM sleep and cognitive procedural memory was not significant. We conclude that some signs reflecting the presence of poor sleep in adults with high-functioning autism correlate with various aspects of motor output on non-verbal performance tasks. The question is raised whether poor sleep in non-complaining persons with autism should be treated.
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41. Lord C. {{Fetal and sociocultural environments and autism}}. {Am J Psychiatry};2013 (Apr 1);170(4):355-358.
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42. Marschik PB, Kaufmann WE, Sigafoos J, Wolin T, Zhang D, Bartl-Pokorny KD, Pini G, Zappella M, Tager-Flusberg H, Einspieler C, Johnston MV. {{Changing the perspective on early development of Rett syndrome}}. {Res Dev Disabil};2013 (Apr);34(4):1236-1239.
We delineated the achievement of early speech-language milestones in 15 young children with Rett syndrome (MECP2 positive) in the first two years of life using retrospective video analysis. By contrast to the commonly accepted concept that these children are normal in the pre-regression period, we found markedly atypical development of speech-language capacities, suggesting a paradigm shift in the pathogenesis of Rett syndrome and a possible approach to its early detection.
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43. Maskey M, Warnell F, Parr JR, Le Couteur A, McConachie H. {{Emotional and behavioural problems in children with autism spectrum disorder}}. {J Autism Dev Disord};2013 (Apr);43(4):851-859.
The type, frequency and inter-relationships of emotional and behavioural problems in 863 children with autism spectrum disorder (ASD) were investigated using the population-based Database of children with ASD living in the North East of England (Dasl(n)e). A high rate of problems was reported, with 53 % of children having 4 or more types of problems frequently. Sleep, toileting and eating problems, hyperactivity, self injury and sensory difficulties were greater in children with lower language level and in special schooling. However, anxiety, tantrums and aggression towards others were frequent regardless of age, ability or schooling. The frequency of co-existing conditions, including such emotional and behavioural problems, in children with ASD has implications for designing appropriate support services for children and families.
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44. May RJ, Hawkins E, Dymond S. {{Brief report: effects of tact training on emergent intraverbal vocal responses in adolescents with autism}}. {J Autism Dev Disord};2013 (Apr);43(4):996-1004.
The present study evaluated the emergence of intraverbal responses following tact training with three adolescents diagnosed with autism spectrum disorders. Participants were taught to tact the name of a cartoon character (e.g., « What is the name of this monster? » [« Simon »]) and that character’s preferred food (e.g., « What food does this monster eat? » [« Chips »]). Following tact training, test probes revealed the emergence of untrained vocal intraverbals. Specifically, in the absence of pictures, participants stated the name of the character when given the food preference (e.g., « Which monster eats chips? »), and stated the food when given the character name (e.g., « What food does Simon eat? »). The findings are discussed with reference to the growing literature on verbal behavior and derived relational responding.
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45. Megremi AS. {{Is fever a predictive factor in the autism spectrum disorders?}}. {Med Hypotheses};2013 (Apr);80(4):391-398.
Autism spectrum disorders (ASD) display such a marked increase in recent decades that researchers speak of « epidemic outbreak » of the disease. Although the diagnostic framework has been expanded and thus more disorders now fall within the autistic spectrum, no one disputes the increased incidence of autism in modern societies, making it a major public health problem. On the other hand, heterogeneity is a major feature of the disorder, both in terms of the etiopathogenesis as well as to the phenotypic expression, natural history and evolution. Consequently, there is considerable research interest in determining factors which are etiopathogenetically, prognostically, preventively or/and therapeutically associated with the disorder. Literature data indicate that probably there are differences in susceptibility to various infections between normal and autistic children. In addition, some autistic children show improvement in the characteristics of their autistic behavior during febrile incident and repression of fever (through antipyretics) might be associated with the onset of autistic disorder. Since fever has been associated with mental illness since the time of Hippocrates already and the presence of fever is associated with a favorable outcome in various pathologic conditions, it is assumed that there are probably two subgroups of autistic children: those who have the possibility to develop acute febrile incidents and those who develop acute incidents without fever. If this is the case, it is important to know whether there are differences between the two subgroups in various biological markers (cytokines/chemokines, autoantibodies), neuroimaging findings, personal and family history of these children (use of drugs, vaccinations, history of autoimmunity, etc.) and, if the first subgroup consists of autistic people of higher functionality and better outcome, or not. If such a classification is real, is there a possibility for the fever to be used as a predictor of the autistic disorder outcome and of whether that person will achieve an acceptable level of functionality in the future? If there are positive answers to these questions, are autistic children, who develop fever, at a very critical stage in evolutionary terms, where it is very important not to lose the defense mechanism of fever development and thus mast use the fever repression methods (antipyretic drugs for example) with caution and chariness? If it is confirmed that autistic children with high fevers are of higher functionality, it is possible for preventive intervention programs to be developed where children are exposed to the least possible chemical drugs intervention (antipyretics, antibiotics, etc.) or even selective vaccination. Further experimental, epidemiological and clinical studies are necessary to investigate the above.
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46. Memari AH, Ghaheri B, Ziaee V, Kordi R, Hafizi S, Moshayedi P. {{Physical activity in children and adolescents with autism assessed by triaxial accelerometry}}. {Pediatr Obes};2013 (Apr);8(2):150-158.
What is already known about this subject Individuals with disabilities are more likely to be sedentary compared to the general population. Individuals with ASD show several impairments in motor and physical functioning. Lack of opportunity is the primary factor that brings minimal physical activity to children with ASD. What this study adds There was a substantial reduction in level of PA across the adolescent years in ASD. A decline in PA level and opportunities at school can contribute to a reduction in individual’s total PA in ASD. Household structure, sedentary activities, comorbidities and obesity are associated with PA level in children and adolescents with ASD. OBJECTIVE: This study aimed to examine physical activity (PA) patterns in children with autism spectrum disorder (ASD) as well as to address PA determinant factors by employing triaxial accelerometry. METHODS: In a school-based cross-sectional study of 80 children and adolescents with ASD (mean = 9.6, standard deviation = 1.8), we investigated demographics, children’s behavioural and clinical profile, and their PA data as objectively measured using an Actigraph GT3X on the right hip for seven consecutive days. All activity measures were expressed as counts per minute (c.p.m.). RESULTS: There was a substantial reduction in activity across the adolescent years in ASD. Girls were significantly less active than boys with ASD. Participants were remarkably less active in school compared to after-school, and there was a PA decline during weekdays compared to weekends, which was not significant. Household structure, sedentary pursuits, comorbidities and obesity were identified as other determinants of PA in children with ASD. CONCLUSIONS: Given the limited objective assessment of PA in children with ASD, our findings stressed the need for improving PA programmes, particularly for girls and older children with ASD. This study also provided important information for counselling clinicians, families and school policy-makers about health issues in ASD.
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47. Minhas HM, Pescosolido MF, Schwede M, Piasecka J, Gaitanis J, Tantravahi U, Morrow EM. {{An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma}}. {Am J Med Genet A};2013 (Apr);161(4):787-791.
We report on a pedigree with a pair of brothers each with minor anomalies, developmental delay, and autistic-symptoms who share an unbalanced translocation (not detectable by karyotype). The unbalanced translocation involves a 7.1 Mb loss of the terminal portion of 10q, and a 4.2 Mb gain of 11q. One of the brothers also developed a cerebellar juvenile pilocytic astrocytoma. The father was found to be a balanced carrier and the couple had a previous miscarriage. We demonstrate that the breakpoint for the triplicated region from chromosome 11 is adjacent to two IgLON genes, namely Neurotrimin (NTM) and Opioid Binding Protein/Cell Adhesion Molecule-like (OPCML). These genes are highly similar neural cell adhesion molecules that have been implicated in synaptogenesis and oncogenesis, respectively. The children also have a 10q deletion and are compared to other children with the 10q deletion syndrome which generally does not involve autism spectrum disorders (ASDs) or cancer. Together these data support a role for NTM and OPCML in developmental delay and potentially in cancer susceptibility. (c) 2013 Wiley Periodicals, Inc.
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48. Minniti G, Lorini R, Veneselli E, Vergani L, Voci A, Calevo MG, Battaglia FM. {{Are psychobiological markers strongly correlated with allostatic load in population with autism spectrum disorders (ASD)?}}. {Med Hypotheses};2013 (Apr);80(4):506.
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49. Mizejewski GJ, Lindau-Shepard B, Pass KA. {{Newborn screening for autism: in search of candidate biomarkers}}. {Biomark Med};2013 (Apr);7(2):247-260.
Background: Autism spectrum disorder (ASD) represents a wide range of neurodevelopmental disorders characterized by impairments in social interaction, language, communication and range of interests. Autism is usually diagnosed in children 3-5 years of age using behavioral characteristics; thus, diagnosis shortly after birth would be beneficial for early initiation of treatment. Aim: This retrospective study sought to identify newborns at risk for ASD utilizing bloodspot specimens in an immunoassay. Materials & methods: The present study utilized stored frozen specimens from ASD children already diagnosed at 15-36 months of age. The newborn specimens and controls were analyzed by immunoassay in a multiplex system that included 90 serum biomarkers and subjected to statisical analysis. Results: Three sets of five biomarkers associated with ASD were found that differed from control groups. The 15 candidate biomarkers were then discussed regarding their association with ASD. Conclusion: This study determined that a statistically selected panel of 15 biomarkers successfully discriminated presumptive newborns at risk for ASD from those of nonaffected controls.
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50. Narzisi A, Calderoni S, Maestro S, Calugi S, Mottes E, Muratori F. {{Child Behavior Check List 1(1/2)-5 as a tool to identify toddlers with Autism Spectrum Disorders: A case-control study}}. {Res Dev Disabil};2013 (Apr);34(4):1179-1189.
Tools to identify toddlers with autism in clinical settings have been recently developed. This study evaluated the sensitivity and specificity of the Child Behavior Check List 1(1/2)-5 (CBCL 1(1/2)-5) in the detection of toddlers subsequently diagnosed with an Autism Spectrum Disorder (ASD), ages 18-36 months. The CBCL of 47 children with ASD were compared to the CBCL of 47 toddlers with Other Psychiatric Disorders (OPD) as well as the CBCL of 47 toddlers with Typical Development (TD) in a case control study. One-way analysis of variance (ANOVA) and logistic regression with odds ratio (OR) analyses were performed. In order to establish the optimal threshold able to discriminate children with ASD from children with OPD and TD, Receiver Operating Characteristic (ROC) analyses were performed. One-way ANOVA revealed significant differences between the three groups. Logistic regression analysis showed that the Withdrawn and the Pervasive Developmental Problems (PDP) subscales can recognize toddlers subsequently identified as ASD from both children with TD (p<0.001) and OPD (p<0.001). ROC analyses showed very high sensitivity and specificity for the PDP (0.98 and 0.91) and Withdrawn (0.92 and 0.97) subscales when ASD was compared to TD. Sensitivity and specificity of Withdrawn (0.90 and 0.83) and PDP (0.85 and 0.83) remained high when comparing ASD versus OPD. In conclusion, the CBCL 1(1/2)-5 seemed to be able to identify toddlers subsequently diagnosed with ASD from children with TD and OPD. Its high sensitivity and specificity, coupled with its efficiency in terms of time and cost, suggest this broadband tool should be tested in a pilot screening survey of toddlers in the general population. Lien vers le texte intégral (Open Access ou abonnement)
51. Nolin SL, Sah S, Glicksman A, Sherman SL, Allen E, Berry-Kravis E, Tassone F, Yrigollen C, Cronister A, Jodah M, Ersalesi N, Dobkin C, Brown WT, Shroff R, Latham GJ, Hadd AG. {{Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles}}. {Am J Med Genet A};2013 (Apr);161(4):771-778.
We investigated the effect of AGG interruptions on fragile X repeat instability upon transmission of fragile X intermediate and small premutation alleles with 45-69 CGG repeats. The FMR1 repeat structure was determined for 375 mothers, 48 fathers, and 538 offspring (457 maternal and 81 paternal transmissions) using a novel PCR assay to determine repeat length and AGG interruptions. The number of AGG interruptions and the length of uninterrupted CGG repeats at the 3′ end were correlated with repeat instability on transmission. Maternal alleles with no AGGs conferred the greatest risk for unstable transmissions. All nine full mutation expansions were inherited from maternal alleles with no AGGs. Furthermore, the magnitude of repeat expansion was larger for alleles lacking AGG interruptions. Transmissions from paternal alleles with no AGGs also exhibited greater instability than those with one or more AGGs. Our results demonstrate that characterization of the AGG structure within the FMR1 repeat allows more accurate risk estimates of repeat instability and expansion to full mutations for intermediate and small premutation alleles. (c) 2013 Wiley Periodicals, Inc.
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52. O’Hearn K, Franconeri S, Wright C, Minshew N, Luna B. {{The development of individuation in autism}}. {J Exp Psychol Hum Percept Perform};2013 (Apr);39(2):494-509.
Evidence suggests that people with autism rely less on holistic visual information than typical adults. The current studies examine this by investigating core visual processes that contribute to holistic processing-namely, individuation and element grouping-and how they develop in participants with autism and typically developing (TD) participants matched for age, IQ, and gender. Individuation refers to the ability to « see » approximately four elements simultaneously; grouping elements can modify how many elements can be individuated. We examined these processes using two well-established paradigms, rapid enumeration and multiple object tracking (MOT). In both tasks, a performance limit of four elements in typical adults is thought to reflect individuation capacity. Participants with autism displayed a smaller individuation capacity than TD controls, regardless of whether they were enumerating static elements or tracking moving ones. To manipulate the holistic information available via element grouping, elements were arranged into a design in rapid enumeration, or moved together in MOT. Performance in participants with autism was affected to a similar degree as TD participants by element grouping, whether the manipulation helped or hurt performance, consistent with evidence that some types of gestalt/grouping information are processed typically in autism. There was substantial development from childhood to adolescence in the speed of individuation in those with autism, but not from adolescence to adulthood, a pattern distinct from TD participants. These results reveal how core visual processes function in autism, and provide insight into the architecture of vision (i.e., individuation appears distinct from visual strengths in autism, such as visual search). (PsycINFO Database Record (c) 2013 APA, all rights reserved).
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53. Omori M, Yamamoto J. {{Stimulus pairing training for Kanji reading skills in students with developmental disabilities}}. {Res Dev Disabil};2013 (Apr);34(4):1109-1118.
Japanese students with developmental disabilities often exhibit difficulties in reading, particularly in Kanji (ideogram) reading, and in acquiring the equivalence relations between pictures, written words, and sounds. Previous research suggested that one student with autism could acquire Kanji reading along with equivalence relations through stimulus pairing training. However, maintenance rates tended to be very low, possibly due to the lack of picture stimuli. In this study, we examined the acquisition and maintenance of Kanji reading skills through stimulus pairing training using corresponding pictures for six students with developmental disabilities. We prepared stimulus pairs consisting of picture stimuli that the students could name along with a corresponding Kanji character that they could not read. All students successfully acquired and maintained the Kanji reading skills through this procedure. These findings suggest that the nameability of picture stimuli in stimulus pairing training may facilitate the acquisition and maintenance of equivalence relations for reading.
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54. Oyabu A, Tashiro Y, Oyama T, Ujihara K, Ohkawara T, Ida-Eto M, Narita M. {{Morphology of the facial motor nuclei in a rat model of autism during early development}}. {Int J Dev Neurosci};2013 (Apr);31(2):138-144.
The development of facial nuclei in animal models of disease is poorly understood, but autism is sometimes associated with facial palsy. In the present study, to investigate migration of facial neurons and initial facial nucleus formation in an animal model of autism, rat embryos were treated with valproic acid (VPA) in utero at embryonic day (E) 9.5 and their facial nuclei were analyzed by in situ hybridization at E13.5, E14.5 and E15.5. Signals for Tbx20, which is expressed in early motor neurons, appeared near the floor plate at the level of the vestibular ganglion and extended caudolaterally, where they became ovoid in shape. This pattern of development was similar between control and VPA-exposed embryos. However, measurements of the migratory pathway and the size of the facial nuclei revealed that exposure to VPA hindered the caudal migration of neurons to the facial nuclei. Signals for cadherin 8, which is expressed in mature facial nuclei, revealed that exposure to VPA caused a significant reduction in the size of the facial nuclei. Our findings provide the first quantitative description of tangential migration and nucleus formation in the developing hindbrain in a rat model of autism.
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55. Paulus FM, Kamp-Becker I, Krach S. {{Demands in reflecting about another’s motives and intentions modulate vicarious embarrassment in autism spectrum disorders}}. {Res Dev Disabil};2013 (Apr);34(4):1312-1321.
The affective responses to another person’s condition depend on the ability to reflect about another’s thoughts and intentions. This is relevant also for high-functioning individuals with ASD who have considerable difficulties in reading the intentions of others. With the present study we introduce a novel paradigm to induce vicarious embarrassment as a form of social pain. We predicted that the vicarious embarrassment experiences of high-functioning individuals with ASD should specifically decline in social contexts that require reflecting on another’s intentions. Thirty-two young adults with high-functioning ASD were matched with regards to age, gender, and verbal IQ to a control group. Vicarious embarrassment was examined with previously validated stimuli describing 30 situations that elicit vicarious embarrassment in the observer. The situations manipulated whether the displayed protagonist either accidentally or intentionally transgressed a social norm in public and participants rated their vicarious embarrassment from the observer’s perspective. The ASD group showed comparable vicarious embarrassment experience in response to observing another’s accidental norm transgressions but significantly reduced vicarious embarrassment when observing another who intentionally violated socials norms. Vicarious embarrassment was significantly correlated with trait empathy in the ASD group. In complex social scenarios individuals with ASD are impaired in reporting experience of vicarious embarrassment, primarily when it is required to reflect on another’s intentions. The present study thus contributes to a better understanding of how persons with ASD are affected in the diversity of empathic processes in the social, everyday life environment they are embedded in.
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56. Peterson K, Barbel P. {{On alert for autism spectrum disorders}}. {Nursing};2013 (Apr);43(4):28-34.
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57. Pushker N, Tinwala S, Khurana S, Sen S. {{Bilateral microphthalmos with unilateral superior cyst in a child with autism and CHARGE syndrome}}. {Int Ophthalmol};2013 (Apr);33(2):195-198.
A case of autism with CHARGE syndrome with microphthalmos and a superior colobomatous cyst arising from the optic disc is reported. A 7-year-old boy presented with a gradually increasing mass, involving the superior orbit and upper eyelid of right eye of 3 years’ duration. Clinical examination revealed bilateral microphthalmos with typical iris coloboma, posterior synechiae, and cataractous lens. Imaging revealed bilateral optic disc colobomas with a superior cyst in the right orbit. Intraoperatively, a single cystic lesion was seen in the superior orbit arising from the optic disc region. Histopathology was suggestive of a colobomatous cyst, positive for glial tissue [glial fibrillary acidic protein (GFAP) positive] and neuroretinal elements (synaptophysin positive) on immunohistochemistry. Genetic analysis revealed a normal karyotype (46, XY).
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58. Qin M, Schmidt KC, Zametkin AJ, Bishu S, Horowitz LM, Burlin TV, Xia Z, Huang T, Quezado ZM, Smith CB. {{Altered cerebral protein synthesis in fragile X syndrome: studies in human subjects and knockout mice}}. {J Cereb Blood Flow Metab};2013 (Apr);33(4):499-507.
Dysregulated protein synthesis is thought to be a core phenotype of fragile X syndrome (FXS). In a mouse model (Fmr1 knockout (KO)) of FXS, rates of cerebral protein synthesis (rCPS) are increased in selective brain regions. We hypothesized that rCPS are also increased in FXS subjects. We measured rCPS with the L-[1-(11)C]leucine positron emission tomography (PET) method in whole brain and 10 regions in 15 FXS subjects who, because of their impairments, were studied under deep sedation with propofol. We compared results with those of 12 age-matched controls studied both awake and sedated. In controls, we found no differences in rCPS between awake and propofol sedation. Contrary to our hypothesis, FXS subjects under propofol sedation had reduced rCPS in whole brain, cerebellum, and cortex compared with sedated controls. To investigate whether propofol could have a disparate effect in FXS subjects masking usually elevated rCPS, we measured rCPS in C57Bl/6 wild-type (WT) and KO mice awake or under propofol sedation. Propofol decreased rCPS substantially in most regions examined in KO mice, but in WT mice caused few discrete changes. Propofol acts by decreasing neuronal activity either directly or by increasing inhibitory synaptic activity. Our results suggest that changes in synaptic signaling can correct increased rCPS in FXS.
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59. Ricketts J, Jones CR, Happe F, Charman T. {{Reading comprehension in autism spectrum disorders: the role of oral language and social functioning}}. {J Autism Dev Disord};2013 (Apr);43(4):807-816.
Reading comprehension is an area of difficulty for many individuals with autism spectrum disorders (ASD). According to the Simple View of Reading, word recognition and oral language are both important determinants of reading comprehension ability. We provide a novel test of this model in 100 adolescents with ASD of varying intellectual ability. Further, we explore whether reading comprehension is additionally influenced by individual differences in social behaviour and social cognition in ASD. Adolescents with ASD aged 14-16 years completed assessments indexing word recognition, oral language, reading comprehension, social behaviour and social cognition. Regression analyses show that both word recognition and oral language explain unique variance in reading comprehension. Further, measures of social behaviour and social cognition predict reading comprehension after controlling for the variance explained by word recognition and oral language. This indicates that word recognition, oral language and social impairments may constrain reading comprehension in ASD.
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60. Ritvo ER, Ritvo RA. {{Commentary on the Application of DSM-5 Criteria for Autism Spectrum Disorder}}. {Am J Psychiatry};2013 (Apr 1);170(4):444a-445.
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61. Roberts JE, Long AC, McCary LM, Quady AN, Rose BS, Widrick D, Baranek G. {{Cardiovascular and behavioral response to auditory stimuli in boys with fragile x syndrome}}. {J Pediatr Psychol};2013 (Apr);38(3):276-284.
OBJECTIVE: The aim of this study was to determine whether young boys with fragile X syndrome (FXS) exhibit abnormal physiological or behavioral responses to a moderately intense auditory stimulus, as heightened sensory reactivity is believed to contribute to problem behaviors in this population. METHODS: We examined the physiological basis, via heart activity, of auditory startle in young boys with FXS (n = 22) compared with typically developing controls (n = 27). Associations with mental age, behavioral reactivity, and chronological age were examined. RESULTS: Results suggest that older boys with FXS display increased cardiac reactivity to auditory input than younger boys with FXS that distinguishes them from typically developing controls. Higher mental age was associated with decreased latency to react. CONCLUSIONS: Results contribute to increased understanding of the pathology in sensory processing in boys with FXS, which can inform refinement of the phenotype in young children with FXS and aid in the development of efficacious psychopharmacological and/or behavioral interventions.
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62. Robertson AE, Simmons DR. {{The Relationship between Sensory Sensitivity and Autistic Traits in the General Population}}. {J Autism Dev Disord};2013 (Apr);43(4):775-784.
Individuals with Autism Spectrum Disorders (ASDs) tend to have sensory processing difficulties (Baranek et al. in J Child Psychol Psychiatry 47:591-601, 2006). These difficulties include over- and under-responsiveness to sensory stimuli, and problems modulating sensory input (Ben-Sasson et al. in J Autism Dev Disorders 39:1-11, 2009). As those with ASD exist at the extreme end of a continuum of autistic traits that is also evident in the general population, we investigated the link between ASD and sensory sensitivity in the general population by administering two questionnaires online to 212 adult participants. Results showed a highly significant positive correlation (r = .775, p < .001) between number of autistic traits and the frequency of sensory processing problems. These data suggest a strong link between sensory processing and autistic traits in the general population, which in turn potentially implicates sensory processing problems in social interaction difficulties. Lien vers le texte intégral (Open Access ou abonnement)
63. Rose SA, Djukic A, Jankowski JJ, Feldman JF, Fishman I, Valicenti-McDermott M. {{Rett syndrome: an eye-tracking study of attention and recognition memory}}. {Dev Med Child Neurol};2013 (Apr);55(4):364-371.
AIM: The aim of this study was to examine attention and recognition memory for faces and patterns in Rett syndrome, a severely disabling neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene. METHOD: Because Rett syndrome impairs speech and hand use, precluding most neuropsychological testing, the visual paired-comparison paradigm (VPC) was used, together with eye tracking. In the VPC, two identical stimuli are presented for familiarization. On test, the familiar stimulus and a new one are paired, and recognition inferred from preferential looking to the novel target. Attention is measured by looking time, gaze dispersion, and number/length of fixations. Twenty-seven female patients with Rett syndrome (mean age 10y 6mo; SD 6y 8mo, age range 2-22y) from the Rett clinic at a children’s hospital were assessed in this study, along with 30 age- and sex-matched typically developing participants (outpatients from the same hospital). RESULTS: Although patients with Rett syndrome showed recognition of both faces and patterns, with novelty scores greater than chance (50%), their performance was significantly poorer than that of the typically developing comparison group. Their attention to both was less mature and marked by a more narrowly focused gaze, with fewer and longer fixations. When inspecting faces, attention to the eyes was similar in both groups; however, patients with Rett syndrome tended to ignore the nose and mouth. INTERPRETATION: This is one of the first studies to characterize attention and memory in individuals with Rett syndrome. Visually based techniques, such as the VPC, open a new avenue for quantifying the cognitive phenotype associated with this syndrome.
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64. Sagar A, Bishop JR, Tessman DC, Guter S, Martin CL, Cook EH. {{Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion}}. {Am J Med Genet A};2013 (Apr);161(4):845-849.
Some copy number variants (CNVs) are strongly implicated in both schizophrenia and autism spectrum disorders (ASDs). Childhood-onset schizophrenia (COS) occurs rarely with 0.1-1% of all schizophrenia diagnoses manifesting before age 10. 3q29 deletions are associated with both autism and schizophrenia, and are rare-the frequency of the deletion estimated to be 1 in 1,750 in developmental disorders. Only one patient with a 3q29 deletion was identified out of the first 1,174 families with ASDs included in the Simons Simplex Collection (SSC). We report on detailed clinical findings for this patient with a de novo 3q29 deletion who, as a young child, developed a very rare overlap of symptoms of both autism and early onset psychosis. His ASD was first diagnosed at the age of 4 years and his psychotic symptoms began at 5 years old. This is only the second case reported thus far of this rare event of co-occurring autism and very early onset psychosis in a child with a 3q29 deletion. It is also the earliest case of a child with autism developing comorbid psychosis-manifesting by the age of 5 years. (c) 2013 Wiley Periodicals, Inc.
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65. Salowitz NM, Eccarius P, Karst J, Carson A, Schohl K, Stevens S, Van Hecke AV, Scheidt RA. {{Brief Report: Visuo-spatial Guidance of Movement during Gesture Imitation and Mirror Drawing in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Apr);43(4):985-995.
Thirteen autistic and 14 typically developing children (controls) imitated hand/arm gestures and performed mirror drawing; both tasks assessed ability to reorganize the relationship between spatial goals and the motor commands needed to acquire them. During imitation, children with autism were less accurate than controls in replicating hand shape, hand orientation, and number of constituent limb movements. During shape tracing, children with autism performed accurately with direct visual feedback, but when viewing their hand in a mirror, some children with autism generated fewer errors than controls whereas others performed much worse. Large mirror drawing errors correlated with hand orientation and hand shape errors in imitation, suggesting that visuospatial information processing deficits may contribute importantly to functional motor coordination deficits in autism.
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66. Sato JR, Hoexter MQ, Oliveira PP, Jr., Brammer MJ, Murphy D, Ecker C. {{Inter-regional cortical thickness correlations are associated with autistic symptoms: A machine-learning approach}}. {J Psychiatr Res};2013 (Apr);47(4):453-459.
The investigation of neural substrates of autism spectrum disorder using neuroimaging has been the focus of recent literature. In addition, machine-learning approaches have also been used to extract relevant information from neuroimaging data. There are only few studies directly exploring the inter-regional structural relationships to identify and characterize neuropsychiatric disorders. In this study, we concentrate on addressing two issues: (i) a novel approach to extract individual subject features from inter-regional thickness correlations based on structural magnetic resonance imaging (MRI); (ii) using these features in a machine-learning framework to obtain individual subject prediction of a severity scores based on neurobiological criteria rather than behavioral information. In a sample of 82 autistic patients, we have shown that structural covariances among several brain regions are associated with the presence of the autistic symptoms. In addition, we also demonstrated that structural relationships from the left hemisphere are more relevant than the ones from the right. Finally, we identified several brain areas containing relevant information, such as frontal and temporal regions. This study provides evidence for the usefulness of this new tool to characterize neuropsychiatric disorders.
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67. Sato K. {{Placenta-derived hypo-serotonin situations in the developing forebrain cause autism}}. {Med Hypotheses};2013 (Apr);80(4):368-372.
Autism is a pervasive developmental disorder that is characterized by the behavioral traits of impaired social cognition and communication, and repetitive and/or obsessive behavior and interests. Although there are many theories and speculations about the pathogenetic causes of autism, the disruption of the serotonergic system is one of the most consistent and well-replicated findings. Recently, it has been reported that placenta-derived serotonin is the main source in embryonic day (E) 10-15 mouse forebrain, after that period, the serotonergic fibers start to supply serotonin into the forebrain. E 10-15 is the very important developing period, when cortical neurogenesis, migration and initial axon targeting are processed. Since all these events have been considered to be involved in the pathogenesis of autism and they are highly controlled by serotonin signals, the paucity of placenta-derived serotonin should have potential importance when the pathogenesis of autism is considered. I, thus, postulate a hypothesis that placenta-derived hypo-serotonin situations in the developing forebrain cause autism. The hypothesis is as follows. Various factors, such as inflammation, dysfunction of the placenta, together with genetic predispositions cause a decrease of placenta-derived serotonin levels. The decrease of placenta-derived serotonin levels leads to hypo-serotonergic situations in the forebrain of the fetus. The paucity of serotonin in the forebrain leads to mis-wiring in important regions which are responsible for the theory of mind. The paucity of serotonin in the forebrain also causes over-growth of serotonergic fibers. These disturbances result in network deficiency and aberration of the serotonergic system, leading to the autistic phenotypes.
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68. Smith RS, Sharp J. {{Fascination and isolation: a grounded theory exploration of unusual sensory experiences in adults with asperger syndrome}}. {J Autism Dev Disord};2013 (Apr);43(4):891-910.
Unusual sensory experiences are commonly seen in people with Asperger syndrome (AS). They correlate with functional impairments and cause distress. The current study investigates how these experiences have affected nine adults with AS’s lives, as well as the coping strategies utilised. Semi-structured interviews were conducted using Instant Messaging software. Data were analysed using Grounded Theory. A number of inter-related categories and focused codes were identified. The categories included heightened senses, sensory stress, the stress avalanche, moderating factors, coping strategies, other people, self-acceptance, fascination, and isolation. A model was constructed as to how these categories and codes interact. How these findings link with previous research into autism spectrum disorders is discussed. Implications for services and future research are also made.
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69. Sorte HS, Gjevik E, Sponheim E, Eiklid KL, Rodningen OK. {{Copy number variation findings among 50 children and adolescents with autism spectrum disorder}}. {Psychiatr Genet};2013 (Apr);23(2):61-69.
OBJECTIVES: Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopment disorders with a complex genetic aetiology. The aim of this study was to identify copy number variations (CNVs) with a clinical significance for ASD. MATERIALS AND METHODS: Array-based comparative genomic hybridization was applied to detect CNVs in a clinically well-characterized population of 50 children and adolescents with ASD. RESULTS: Nine CNVs with predicted clinical significance were identified among eight individuals (detection rate 16%). Three of the CNVs are recurrently associated with ASDs (15q11.2q13.1) or have been identified in ASD populations [3p14.2 and t(8;12)(p23.1;p13.31)]. The remaining regions (15q11.2, 10q21.1, Xp22.2, 16p13.3 and 22q13.1) have not been reported previously as candidate genes for ASD. CONCLUSION: This study identified five novel CNVs among the individuals. The causal relationship between identified CNVs and the ASD phenotype is not fully established. However, the genes involved are associated with ASD and/or other neuropsychiatric disorders, or implicated in synaptic and neuronal activity, thus suggesting clinical significance. Further identification of ASD-associated CNVs is required, together with a broad clinical characterization of affected individuals to identify genotype-phenotype correlations.
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70. Steinman G, Mankuta D. {{Insulin-like growth factor and the etiology of autism}}. {Med Hypotheses};2013 (Apr);80(4):475-480.
The basic hypothesis for this study is that reduced peripartum level of insulin-like growth factor-1 (IGF) due to genetic, epigenetic, or environmental factors is a sentinel biomarker of increased probability of later development of autism. The central objective of the resultant proposed study described here is examining if a correlation exists between the serum level of IGF in the fetus/newborn and the probability of autism developing later in the child. Mechanisms possibly causing such a decrease are considered. This would define a prospective biomarker for and possible etiology of this disorder. Insulin-like growth factor-1 directly affects the rate at which oligodendrocytes promote myelination in the central nervous system, especially in the brain. Factors which reduce the production or availability of IGF could retard normal nerve programming in the fetus or neonate. Thus, it would be desirable to arrest the pathologic processes of autism in the early neonatal stage before irreversible nerve damage occurs.
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71. Stewart BA, Klar AJ. {{Can bronchoscopic airway anatomy be an indicator of autism?}}. {J Autism Dev Disord};2013 (Apr);43(4):911-916.
Bronchoscopic evaluations revealed that some children have double branching of bronchi (designated « doublets ») in the lower lungs airways, rather than normal, single branching. Retrospective analyses revealed only one commonality in them: all subjects with doublets also had autism or autism spectrum disorder (ASD). That is, 49 subjects exhibited the presence of initial normal anatomy in upper airway followed by doublets in the lower airway. In contrast, the normal branching pattern was noted in all the remaining 410 subjects who did not have a diagnosis of autism/ASD. We propose that the presence of doublets might be an objective, reliable, and valid biologic marker of autism/ASD.
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72. Toma C, Hervas A, Torrico B, Balmana N, Salgado M, Maristany M, Vilella E, Martinez-Leal R, Planelles MI, Cusco I, del Campo M, Perez-Jurado LA, Caballero-Andaluz R, de Diego-Otero Y, Perez-Costillas L, Ramos-Quiroga JA, Ribases M, Bayes M, Cormand B. {{Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2}}. {Psychiatr Genet};2013 (Apr);23(2):82-85.
Impairment of language abilities is a common feature in autistic individuals. Heterozygous mutations in the Forkhead Box P2 (FOXP2) gene lead to a severe spoken language disorder. Recently, several studies have pinpointed the involvement of common variants of the Contactin-Associated Protein-Like 2 (CNTNAP2) gene, whose transcription is regulated by the product of FOXP2, in several disorders characterized by language impairments such as autism, specific language impairment (SLI), and selective mutism (SM). In the present study, common variants of the FOXP2 and the CNTNAP2 genes were analyzed through a case-control association study in 322 Spanish autistic patients and 524 controls. The results of this study suggest that common variants of FOXP2 are unlikely to contribute to autism susceptibility, in agreement with previous findings. Furthermore, we failed to replicate in our sample a previous association finding of two single nucleotide polymorphisms (rs2710102 and rs7794745) in the CNTNAP2 gene with autism. No evidence for the association of these genes with language traits was observed in our analysis.
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73. Tuchman R. {{Autism and social cognition in epilepsy: implications for comprehensive epilepsy care}}. {Curr Opin Neurol};2013 (Apr);26(2):214-218.
PURPOSE OF REVIEW: The association of epilepsy, autism spectrum disorders (ASD) and social cognition is now well recognized. The overlap of these disorders is generating increasing scientific and clinical interest as the comprehensive management of epilepsy has expanded to include the cognitive and social consequences commonly being recognized as an integral part of epilepsy disorders. RECENT FINDINGS: Recent studies have shown that in individuals with ASD and intellectual disability the rate of epilepsy is as high as 20%. In those with ASD and no intellectual disability the rates of epilepsy are approximately 8%. In epilepsy those most likely to have ASD are those with intellectual disability. There is limited information regarding how often ASD impacts epilepsy and less data on the effect of epilepsy on social cognition. There is a convergence of evidence that when epilepsy coexists with ASD and intellectual disability they share etiopathogenic mechanisms. SUMMARY: There is a significant and important overlap between epilepsy and ASD and this has important implications for comprehensive care of all individuals with epilepsy. Early recognition of social deficits is essential. Treating the seizures in individuals with epilepsy and ASD is not enough. Clinicians need to be aware of and implement interventions that address the social-cognitive deficits.
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74. van Steensel FJ, Bogels SM, de Bruin EI. {{Psychiatric Comorbidity in Children with Autism Spectrum Disorders: A Comparison with Children with ADHD}}. {J Child Fam Stud};2013 (Apr);22(3):368-376.
The present study was conducted with the aim to identify comorbid psychiatric disorders in children with autism spectrum disorders (ASD) (n = 40) and to compare those comorbidity rates to those in children with attention deficit hyperactivity disorder (ADHD) (n = 40). Participants were clinically referred children aged 7-18 years. DSM-IV classifications were used for the primary diagnosis (ASD/ADHD), while comorbid psychiatric disorders were assessed using a structured diagnostic interview, the structured clinical interview for DSM-IV, childhood diagnoses (KID-SCID). Twenty-three children with ASD (57.5 %) had at least one comorbid disorder, whereas 16 children with ADHD (40.0 %) were classified as having at least one comorbid disorder. No group differences were found with respect to this comorbidity rate or for the rate of comorbid externalizing disorders (ODD and/or CD). However, children with ASD had more comorbid internalizing disorders compared to children with ADHD. More specifically, children with ASD had higher rates of anxiety disorders, but not mood disorders. No associations between comorbidity and age or between comorbidity and the intelligence quotient was found. It is important for clinicians to always be aware of, and screen for, comorbidity, and to consider treatment for these comorbid disorders. In addition, research should focus on establishing valid and reliable screening tools as well as effective treatment options for these comorbid disorders.
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75. Wang J, Hu Y, Wang Y, Qin X, Xia W, Sun C, Wu L. {{Parenting stress in Chinese mothers of children with autism spectrum disorders}}. {Soc Psychiatry Psychiatr Epidemiol};2013 (Apr);48(4):575-582.
OBJECTIVE: Elevated parenting stress has been observed among mothers of children with autism spectrum disorders (ASDs) in western countries, but little is known about mothers of Han Chinese children. The aim of the current study was to further the knowledge about stress experienced by Chinese mothers of children with ASD by examining maternal parenting stress in Heilongjiang province of China. METHODS: In this cross-sectional study, data about participants’ demographic characteristics, parenting stress, anxiety, depression, child’s behavioral problems, coping strategies, and social support were collected though a questionnaire survey. The participants included 150 families with ASD children, who were consecutively admitted to the clinics of the Children Development and Behavior Research Center in Harbin Medical University, Heilongjiang Disabled Persons Federation, and Mudanjiang Child Welfare Home. RESULTS: The participants reported elevated parenting stress. Mothers’ parenting stress was associated with levels of depression and anxiety, and child’s behavioral symptoms. Child’s behavioral symptoms, maternal anxiety, maternal depressive symptoms, and lack of governmental financial support were associated with overall parenting stress. CONCLUSIONS: Government support may play an important role in reducing parenting stress in this population.
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76. Werling DM, Geschwind DH. {{Sex differences in autism spectrum disorders}}. {Curr Opin Neurol};2013 (Apr);26(2):146-153.
PURPOSE OF REVIEW: A strong male bias in autism spectrum disorder (ASD) prevalence has been observed with striking consistency, but no mechanism has yet to definitively account for this sex difference. This review explores the current status of epidemiological, genetic, and neuroendocrinological work addressing ASD prevalence and liability in males and females, so as to frame the major issues necessary to pursue a more complete understanding of the biological basis for sex-differential risk. RECENT FINDINGS: Recent studies continue to report a male bias in ASD prevalence, but also suggest that sex differences in phenotypic presentation, including fewer restricted and repetitive behaviors and externalizing behavioral problems in females, may contribute to this bias. Genetic studies demonstrate that females are protected from the effects of heritable and de-novo ASD risk variants, and compelling work suggests that sex chromosomal genes and/or sex hormones, especially testosterone, may modulate the effects of genetic variation on the presentation of an autistic phenotype. SUMMARY: ASDs affect females less frequently than males, and several sex-differential genetic and hormonal factors may contribute. Future work to determine the mechanisms by which these factors confer risk and protection to males and females is essential.
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77. Whitehouse AJ, Stanley FJ. {{Is autism one or multiple disorders?}}. {Med J Aust};2013 (Apr 1);198(6):302-303.
78. Williams DL, Goldstein G, Minshew NJ. {{The modality shift experiment in adults and children with high functioning autism}}. {J Autism Dev Disord};2013 (Apr);43(4):794-806.
This study used the modality shift experiment, a relatively simple reaction time measure to visual and auditory stimuli, to examine attentional shifting within and across modalities in 33 children and 42 adults with high-functioning autism as compared to matched numbers of age- and ability-matched typical controls. An exaggerated « modality shift effect » relative to the TD children occurred for the children with autism in conditions involving the reaction time when shifting from sound to light but not from light to sound. No exaggerated MSE was found for the adults with autism; rather, their responses were characterized by a generalized slowness relative to the adults with TD. These results suggest a lag in maturational development in autism in basic information processing mechanisms.
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79. Wodka EL, Mathy P, Kalb L. {{Predictors of phrase and fluent speech in children with autism and severe language delay}}. {Pediatrics};2013 (Apr);131(4):e1128-1134.
OBJECTIVE: To examine the prevalence and predictors of language attainment in children with autism spectrum disorder (ASD) and severe language delay. We hypothesized greater autism symptomatology and lower intelligence among children who do not attain phrase/fluent speech, with nonverbal intelligence and social engagement emerging as the strongest predictors of outcome. METHODS: Data used for the current study were from 535 children with ASD who were at least 8 years of age (mean = 11.6 years, SD = 2.73 years) and who did not acquire phrase speech before age 4. Logistic and Cox proportionate hazards regression analyses examined predictors of phrase and fluent speech attainment and age at acquisition, respectively. RESULTS: A total of 372 children (70%) attained phrase speech and 253 children (47%) attained fluent speech at or after age 4. No demographic or child psychiatric characteristics were associated with phrase speech attainment after age 4, whereas slightly older age and increased internalizing symptoms were associated with fluent speech. In the multivariate analyses, higher nonverbal IQ and less social impairment were both independently associated with the acquisition of phrase and fluent speech, as well as earlier age at acquisition. Stereotyped behavior/repetitive interests and sensory interests were not associated with delayed speech acquisition. CONCLUSIONS: This study highlights that many severely language-delayed children in the present sample attained phrase or fluent speech at or after age 4 years. These data also implicate the importance of evaluating and considering nonverbal skills, both cognitive and social, when developing interventions and setting goals for language development.
