Pubmed du 23/06/09

Pubmed du jour

2009-06-23 12:03:50

1. Al-Salehi SM, Al-Hifthy EH, Ghaziuddin M. {{Autism in saudi arabia: presentation, clinical correlates and comorbidity}}. {Transcult Psychiatry};2009 (Jun);46(2):340-347.

Although autism is a global disorder, relatively little is known about its presentation and occurrence in many developing countries, such as Saudi Arabia. This article describes the reasons for referral and clinical characteristics of a sample of 49 children (37 males and 12 females) diagnosed with an autistic spectrum disorder at a tertiary referral center in Saudi Arabia. The diagnosis of autism was based on DSM-IV criteria supplemented by information obtained from parent and child interviews, rating scales, and examination of school and hospital records. Females were older than males at the time of referral. Eleven patients had a history of seizure disorder and one patient had a chromosome abnormality. Twenty-five patients were taking psychotropic medications and 14 patients were the product of consanguineous marriages. Clinical and research implications of these findings are discussed.

2. Anderson GM. {{Conceptualizing autism: the role for emergence}}. {J Am Acad Child Adolesc Psychiatry};2009 (Jul);48(7):688-691.

3. Berg R. {{Autism–an environmental health issue after all?}} {J Environ Health};2009 (Jun);71(10):14-18.

4. Betancur C, Sakurai T, Buxbaum JD. {{The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders}}. {Trends Neurosci};2009 (Jun 19)

Recent advances in genetics and genomics have unveiled numerous cases of autism spectrum disorders (ASDs) associated with rare, causal genetic variations. These findings support a novel view of ASDs in which many independent, individually rare genetic variants, each associated with a very high relative risk, together explain a large proportion of ASDs. Although these rare variants impact diverse pathways, there is accumulating evidence that synaptic pathways, including those involving synaptic cell adhesion, are disrupted in some subjects with ASD. These findings provide insights into the pathogenesis of ASDs and enable the development of model systems with construct validity for specific causes of ASDs. In several neurodevelopmental disorders frequently associated with ASD, including fragile X syndrome, Rett syndrome and tuberous sclerosis, animal models have led to the development of new therapeutic approaches, giving rise to optimism with other causes of ASDs.

5. Cashin A, Newman C. {{Autism in the criminal justice detention system: A review of the literature}}. {J Forensic Nurs};2009;5(2):70-75.

Abstract Little is known about the experience of people with autism in custody. A review of the literature that explored the relationship between autism and criminality and the criminal justice detention system was conducted. Literature suggests that people with autism are potentially overrepresented within the criminal justice system. There is little research that has examined the experiences of people with autism spectrum disorders in custody. There is very little to guide service design to develop autism support services for people in prison.

6. Emck C, Bosscher R, Beek P, Doreleijers T. {{Gross motor performance and self-perceived motor competence in children with emotional, behavioural, and pervasive developmental disorders: a review}}. {Dev Med Child Neurol};2009 (Jul);51(7):501-517.

AIMS: Motor performance and self-perceived motor competence have a great impact on the psychosocial development of children in general. In this review, empirical studies of gross motor performance and self-perception of motor competence in children with emotional (depression and anxiety), behavioural, and pervasive developmental disorders are scrutinized, with the objective of identifying specific motor characteristics that may be relevant to clinical practice. METHOD: A systematic search of studies published between 1997 and 2007 was performed using nine search engines. RESULTS: Children in all three categories (emotional, behavioural, and pervasive developmental disorders) exhibit poor gross motor performance and problematic self-perception of motor competence, with certain indications of disorder-specific characteristics. In particular, children with emotional disorders have balance problems and self-perceived motor incompetence; children with behavioural disorders show poor ball skills and tend to overestimate their motor performance; children with pervasive developmental disorders demonstrate poor gross motor performance and self-perceived motor incompetence. As a result, children with developmental and emotional disorders are restricted in participating in games and play, which may lead to inactive lifestyles and further disruption of their psychosocial and physical development. INTERPRETATION: Motor problems need more, to some extent disorder-specific, attention in clinical practice than has been provided to date.

7. Geurts HM, Begeer S, Stockmann L. {{Brief Report: Inhibitory Control of Socially Relevant Stimuli in Children with High Functioning Autism}}. {J Autism Dev Disord};2009 (Jun 19)

The current study explored whether inhibitory control deficits in high functioning autism (HFA) emerged when socially relevant stimuli were used and whether arousal level affected the performance. A Go/NoGo paradigm, with socially relevant stimuli and varying presentation rates, was applied in 18 children with HFA (including children with autism or Asperger syndrome) and 22 typically developing children (aged 8-13 years). Children with HFA did not show inhibitory control deficits compared to the control group, but their performance deteriorated in the slow presentation rate condition. Findings were unrelated to children’s abilities to recognize emotions. Hence, rather than a core deficit in inhibitory control, low arousal level in response to social stimuli might influence the responses given by children with HFA.

8. Loucas T, Riches NG, Charman T, Pickles A, Simonoff E, Chandler S, Baird G. {{Speech perception and phonological short-term memory capacity in language impairment: preliminary evidence from adolescents with specific language impairment (SLI) and autism spectrum disorders (ASD)}}. {Int J Lang Commun Disord};2009 (Jun 18):1.

Background: The cognitive bases of language impairment in specific language impairment (SLI) and autism spectrum disorders (ASD) were investigated in a novel non-word comparison task which manipulated phonological short-term memory (PSTM) and speech perception, both implicated in poor non-word repetition. Aims: This study aimed to investigate the contributions of PSTM and speech perception in non-word processing and whether individuals with SLI and ASD plus language impairment (ALI) show similar or different patterns of deficit in these cognitive processes. Method & Procedures: Three groups of adolescents (aged 14-17 years), 14 with SLI, 16 with ALI, and 17 age and non-verbal IQ matched typically developing (TD) controls, made speeded discriminations between non-word pairs. Stimuli varied in PSTM load (two- or four-syllables) and speech perception load (mismatches on a word-initial or word-medial segment). Outcomes & Results: Reaction times showed effects of both non-word length and mismatch position and these factors interacted: four-syllable and word-initial mismatch stimuli resulted in the slowest decisions. Individuals with language impairment showed the same pattern of performance as those with typical development in the reaction time data. A marginal interaction between group and item length was driven by the SLI and ALI groups being less accurate with long items than short ones, a difference not found in the TD group. Conclusions & Implications: Non-word discrimination suggests that there are similarities and differences between adolescents with SLI and ALI and their TD peers. Reaction times appear to be affected by increasing PSTM and speech perception loads in a similar way. However, there was some, albeit weaker, evidence that adolescents with SLI and ALI are less accurate than TD individuals, with both showing an effect of PSTM load. This may indicate, at some level, the processing substrate supporting both PSTM and speech perception is intact in adolescents with SLI and ALI, but also in both there may be impaired access to PSTM resources.

9. Matson JL, Rivet TT, Fodstad JC, Dempsey T, Boisjoli JA. {{Examination of adaptive behavior differences in adults with autism spectrum disorders and intellectual disability}}. {Res Dev Disabil};2009 (Jun 18)

Autism spectrum disorders (ASD) and intellectual disabilities (ID) are high prevalence developmental disabilities that co-occur at high rates. Furthermore, Axis I psychopathology is known to occur more frequently in individuals with ID than the general population. The problems are lifelong and can be major impediments to independent living. Despite this, little research with adults is available to determine the effects of these disabilities on specific adaptive skills. In this study, 337 adults were evaluated using the Vineland Adaptive Behavior Scale to assess the effects of these disabilities on looking at an ID, ID plus ASD, and ID and ASD plus Axis I psychopathology group. Adaptive skills were greatest for the ID group followed by the ID plus ASD, and ID and ASD plus psychopathology. Thus, the more handicapping conditions, the greater the skills deficits observed, particularly where psychopathology was concerned. As such, accurately identifying the causes of adaptive skill deficits will likely result in more precise and effective treatment.

10. Neville B. {{A regional database for autism spectrum disorders}}. {Arch Dis Child};2009 (Jul);94(7):562.

11. Nicholas JS, Carpenter LA, King LB, Jenner W, Charles JM. {{Autism Spectrum Disorders in Preschool-Aged Children: Prevalence and Comparison to a School-Aged Population}}. {Ann Epidemiol};2009 (Jun 19)

PURPOSE: The purpose of this study was to determine the prevalence and case characteristics of children with autism spectrum disorders (ASDs) among 4-year-olds and to compare findings to previous prevalence estimates for 8-year-olds in the same geographic area. METHODS: South Carolina (SC) has been a participant in the Centers for Disease Control and Prevention’s active, population-based, multiple-site ASD surveillance network for 8-year-olds since 2000. The 8-year-old methodology, designed to identify children both with and without prior diagnosis, was applied in SC with modification to include information sources for younger children. RESULTS: The ASD prevalence among 4-year-olds in 2006 was 8.0 per 1000 (95% confidence interval [CI], 6.1-9.9), or 1 in 125. In comparison, ASD prevalence among 8-year-olds in the same geographic area was 7.6 (95% CI, 5.7-9.5) in 2000 and 7.0 (95% CI 5.1-8.9) in 2002. Developmental concerns were documented at earlier ages across time, and while most cases received services, only 20% to 29% received services specific to ASD. CONCLUSIONS: Findings should provide useful information for the planning of health/education policies and early intervention strategies for ASD.

12. Pardini M, Garaci FG, Bonzano L, Roccatagliata L, Palmieri MG, Pompili E, Coniglione F, Krueger F, Ludovici A, Floris R, Benassi F, Emberti Gialloreti L. {{White matter reduced streamline coherence in young men with autism and mental retardation}}. {Eur J Neurol};2009 (Jun 15)

Background and purpose: It has been proposed that white matter alterations might play a role in autistic disorders; however, published data are mainly limited to high-functioning autism. The goal of this study was to apply diffusion tensor imaging (DTI) and fiber tractography (FT) to study white matter in low-functioning autism and the relationship between white matter and cognitive impairment. Methods: Ten low-functioning males with autism (mean age: 19.7 +/- 2.83 years) and 10 age-matched healthy males (mean age: 19.9 +/- 2.64 years) underwent DTI-MRI scanning. fractional anisotropy (FA) maps were analyzed with whole brain voxel-wise and tract-of-interest statistics. Using FT algorithms, white matter tracts connecting the orbitofrontal cortex (OFC) with other brain regions were identified and compared between the two groups. FA mean values of the autistic group were correlated with intelligence quotient (IQ) scores. Results: Low-functioning autistic subjects showed a reduced tract volume and lower mean FA values in the left OFC network compared with controls. In the autistic group, lower FA values were associated with lower IQ scores. Conclusions: We showed evidence of OFC white matter network abnormalities in low-functioning autistic individuals. Our results point to a relationship between the severity of the intellectual impairment and the extent of white matter alterations.

13. Sanders JL. {{Qualitative or Quantitative Differences Between Asperger’s Disorder and Autism? Historical Considerations}}. {J Autism Dev Disord};2009 (Jun 23)

The histories of autism and Asperger’s Disorder (AD), based on original contributions by Kanner and Asperger, are reviewed in relation to DSM-IV diagnostic criteria. Their original articles appear to have influenced the distinction between AD and autism made in the DSM-IV. Based on up-to-date empirical research, however, it appears that AD and autism are not qualitatively distinct disorders, but are different quantitative manifestations of the same disorder. The differences between AD and autism may be a function of individual variability in these areas, not the manifestation of qualitatively distinct disorders. The DSM-IV criteria for AD and autism need to be considered with their historical developments, and based on empirical evidence, the DSM-IV diagnostic criteria may be subject to critical review.

14. Senju A, Johnson MH. {{Atypical eye contact in autism: models, mechanisms and development}}. {Neurosci Biobehav Rev};2009 (Jun 15)

An atypical pattern of eye contact behaviour is one of the most significant symptoms of Autism Spectrum Disorder (ASD). Recent empirical advances have revealed the developmental, cognitive and neural basis of atypical eye contact behaviour in ASD. We review different models and advance a new ‘fast-track modulator model’. Specifically, we propose that atypical eye contact processing in ASD originates in the lack of influence from a subcortical face and eye contact detection route, which is hypothesized to modulate eye contact processing and guide its emergent specialization during development.

15. Sugie Y, Sugie H, Fukuda T, Osawa J. {{Study of HOXD genes in autism particularly regarding the ratio of second to fourth digit length}}. {Brain Dev};2009 (Jun 17)

Multiple genes are involved in the pathogenesis of autism. To study the causative gene, the relationship between autism endophenotypes and their closely related genes has been analyzed. There is a subgroup of autism spectrum disorder (ASD) in which the ratio of second digit length to fourth digit length (2D/4D) is low (short digit group, SDG). We studied the relationship between ASD and HOXD genes, which are located in the candidate locus for ASD and are associated with digit morphogenesis, with a particular focus on SDG. We analyzed 25 SNPs of HOXD11, HOXD12, and HOXD13 in the subject of 98 ASD, 89 healthy controls, and 16 non-autistic patients (non-ASD). There was no significant difference in the genotype frequencies between the ASD and the healthy controls. However, the G-112T heterozygote in the promoter region of HOXD11 was observed in only four patients with ASD and in none of the healthy controls or non-ASD subjects. Moreover, this HOXD11 G-112T was observed in three of 11 SDG with ASD but in none of the 15 non-SDG patients with ASD. There were eight SDG patients among the non-ASD ones, but this polymorphism was observed in none of them. Considering the above results, it is expected that candidate genes will be further identified, using HOXD11 G-112T polymorphism as a marker, by analyzing genes located near 2q in a larger number of ASD subjects with clinical signs of SDG.

16. Uddin LQ, Menon V. {{The anterior insula in autism: Under-connected and under-examined}}. {Neurosci Biobehav Rev};2009 (Jun 15)

Autism is a complex neurodevelopmental disorder of unknown etiology. While the past decade has witnessed a proliferation of neuroimaging studies of autism, theoretical approaches for understanding systems-level brain abnormalities remain poorly developed. We propose a novel anterior insula-based systems-level model for investigating the neural basis of autism, synthesizing recent advances in brain network functional connectivity with converging evidence from neuroimaging studies in autism. The anterior insula is involved in interoceptive, affective and empathic processes, and emerging evidence suggests it is part of a « salience network » integrating external sensory stimuli with internal states. Network analysis indicates that the anterior insula is uniquely positioned as a hub mediating interactions between large-scale networks involved in externally- and internally-oriented cognitive processing. A recent meta-analysis identifies the anterior insula as a consistent locus of hypoactivity in autism. We suggest that dysfunctional anterior insula connectivity plays an important role in autism. Critical examination of these abnormalities from a systems neuroscience perspective should be a priority for further research on the neurobiology of autism.