1. Elbe D, Lalani Z. {{Review of the pharmacotherapy of irritability of autism}}. {J Can Acad Child Adolesc Psychiatry}. 2012; 21(2): 130-46.
OBJECTIVE: To review the randomized controlled trial data regarding pharmacotherapy of irritability of autism. METHOD: A LITERATURE REVIEW WAS CONDUCTED USING THE MEDLINE SEARCH TERMS: ‘autism’ OR ‘autism spectrum disorder’ with the following limits: Randomized Controlled Trials (RCTs), human trials, English language. Additional articles were identified from reference information. Trials involving nutritional supplements, hormones or drugs not approved by either Health Canada or the US Food and Drug Administration (FDA) were excluded from analysis. RESULTS: Twenty-three RCTs that met criteria were identified. The greatest number of RCTs involved risperidone, with six of seven placebo-controlled risperidone trials reporting statistically significant improvements on the primary outcome measure. Two aripiprazole RCTs and one olanzapine RCT reported statistically significant improvement in primary outcome measures. Haloperidol was superior to both clomipramine and placebo in a head-to-head crossover trial, while risperidone was superior to haloperidol for treatment of behavioural symptoms in a separate head-to-head trial. Clonidine, methylphenidate, valproate and levocarnitine monotherapy were superior to placebo in single RCTs, while adjunctive treatments cyproheptadine, pentoxifylline and topiramate were superior to placebo in small studies when given in combination with an antipsychotic. Adverse events from RCTs were summarized, including weight gain and metabolic effects, if available. CONCLUSION: The bulk of positive RCT evidence for the pharmacotherapy of irritability of autism pertains to FDA approved antipsychotics risperidone and aripiprazole. RCTs supporting efficacy of several alternative and adjunctive agents may afford additional treatment options when optimal antipsychotic doses fail to control symptoms or cause intolerable adverse effects. Behavioural therapy should be employed where possible either before, or in addition to pharmacotherapy.
2. Fisher K. {{Is There Anything to Smile about? A Review of Oral Care for Individuals with Intellectual and Developmental Disabilities}}. {Nurs Res Pract}. 2012; 2012: 860692.
Individuals with intellectual and developmental disabilities (I/DD) are at risk for dental disease and face substantial challenges in accessing both routine and preventive dental services. In terms of unmet needs it ranks third, following residential services and employment opportunities for this particular group of people. Poorer oral health status negatively impacts overall health and one’s quality of life. Factors contributing to this problem include significantly higher rates of dental caries, periodontal disease, poor oral hygiene, low expectations, fear of treatment, and lack of awareness among individuals and carers. Additional factors include problems accessing dental care or denial of services because of inadequate education and clinical training, inappropriate bias, or inadequate levels of compensation to providers. Strategies to improve service delivery include individualized and coordinated care services, education of individuals, carers, and providers, including both classroom and clinical experiences with special needs patients in dental programs.
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3. Fombonne E. {{Autism in adult life}}. {Can J Psychiatry}. 2012; 57(5): 273-4.
4. Hall HR. {{Families of children with autism: behaviors of children, community support and coping}}. {Issues Compr Pediatr Nurs}. 2012; 35(2): 111-32.
Background: The diagnosis of autism for children (from birth to age 21) continues to increase, with the current rate being 1 in 110 children in the US. Besides financial strain, families often experience reduced quality of life due to disruptive behaviors related to autism. Research indicates that social support for families of children with autism improves family coping and adaptation. Method: A descriptive, correlational, cross-sectional study was conducted with 38 parents of children with autism. Using the McCubbin and Patterson (1983) model of family behavior, associations among behaviors of children with autism, community support for family, and family coping were analyzed. Results: Findings of this study indicate an association between increased community supports and increased family coping strategies (r=.451; p=.005). Results also suggest the levels of disruptive behaviors associated with autism vary, community support can be but is not always helpful, and that the family’s ability to cope with the challenges of autism is important to the family.
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5. Holt R, Sykes NH, Conceicao IC, Cazier JB, Anney RJ, Oliveira G, Gallagher L, Vicente A, Monaco AP, Pagnamenta AT. {{CNVs leading to fusion transcripts in individuals with autism spectrum disorder}}. {Eur J Hum Genet}. 2012.
There is strong evidence that rare copy number variants (CNVs) have a role in susceptibility to autism spectrum disorders (ASDs). Much research has focused on how CNVs mediate a phenotypic effect by altering gene expression levels. We investigated an alternative mechanism whereby CNVs combine the 5′ and 3′ ends of two genes, creating a ‘fusion gene’. Any resulting mRNA with an open reading frame could potentially alter the phenotype via a gain-of-function mechanism. We examined 2382 and 3096 rare CNVs from 996 individuals with ASD and 1287 controls, respectively, for potential to generate fusion transcripts. There was no increased burden in individuals with ASD; 122/996 cases harbored at least one rare CNV of this type, compared with 179/1287 controls (P=0.89). There was also no difference in the overall frequency distribution between cases and controls. We examined specific examples of such CNVs nominated by case-control analysis and a candidate approach. Accordingly, a duplication involving REEP1-POLR1A (found in 3/996 cases and 0/1287 controls) and a single occurrence CNV involving KIAA0319-TDP2 were tested. However, no fusion transcripts were detected by RT-PCR. Analysis of additional samples based on cell line availability resulted in validation of a MAPKAPK5-ACAD10 fusion transcript in two probands. However, this variant was present in controls at a similar rate and is unlikely to influence ASD susceptibility. In summary, although we find no evidence that fusion-gene generating CNVs lead to ASD susceptibility, discovery of a MAPKAPK5-ACAD10 transcript with an estimated frequency of approximately 1/200 suggests that gain-of-function mechanisms should be considered in future CNVs studies.European Journal of Human Genetics advance online publication, 2 May 2012; doi:10.1038/ejhg.2012.73.
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6. Howlin P, Moss P. {{Adults with autism spectrum disorders}}. {Can J Psychiatry}. 2012; 57(5): 275-83.
In the decades since autism was first formally described in the 1940s, there have been major advances in research relating to diagnosis, causation, and treatment approaches for children with this condition. However, research into prognosis, outcomes, or effective interventions for adults with autism spectrum disorders (ASDs) is much more limited. In this paper, we review studies of outcome in adulthood. The findings indicate that, as adults, many people with ASD, including those of normal IQ, are significantly disadvantaged regarding employment, social relationships, physical and mental health, and quality of life. Support to facilitate integration within the wider society is frequently lacking, and there has been almost no research into ways of developing more effective intervention programs for adults. Moreover, most of the research on outcome has involved relatively young people in their 20s and 30s-much less is known about outcomes for people with ASD as they reach mid-late adulthood. Systematic follow-up studies from childhood through adulthood are needed if we are to gain a better understanding of trajectories of development over the lifespan, to identify the factors that influence prognosis, and to determine how these factors exert their effects and how they may be modified to ensure a better future.
7. Kapp SK, Gillespie-Lynch K, Sherman LE, Hutman T. {{Deficit, Difference, or Both? Autism and Neurodiversity}}. {Dev Psychol}. 2012.
The neurodiversity movement challenges the medical model’s interest in causation and cure, celebrating autism as an inseparable aspect of identity. Using an online survey, we examined the perceived opposition between the medical model and the neurodiversity movement by assessing conceptions of autism and neurodiversity among people with different relations to autism. Participants (N = 657) included autistic people, relatives and friends of autistic people, and people with no specified relation to autism. Self-identification as autistic and neurodiversity awareness were associated with viewing autism as a positive identity that needs no cure, suggesting core differences between the medical model and the neurodiversity movement. Nevertheless, results suggested substantial overlap between these approaches to autism. Recognition of the negative aspects of autism and endorsement of parenting practices that celebrate and ameliorate but do not eliminate autism did not differ based on relation to autism or awareness of neurodiversity. These findings suggest a deficit-as-difference conception of autism wherein neurological conditions may represent equally valid pathways within human diversity. Potential areas of common ground in research and practice regarding autism are discussed. (PsycINFO Database Record (c) 2012 APA, all rights reserved).
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8. Mendez MA, Horder J, Myers J, Coghlan S, Stokes P, Erritzoe D, Howes O, Lingford-Hughes A, Murphy D, Nutt D. {{The brain GABA-benzodiazepine receptor alpha-5 subtype in autism spectrum disorder: A pilot [(11)C]Ro15-4513 positron emission tomography study}}. {Neuropharmacology}. 2012.
GABA (gamma-amino-butyric-acid) is the primary inhibitory neurotransmitter in the human brain. It has been proposed that the symptoms of autism spectrum disorders (ASDs) are the result of deficient GABA neurotransmission, possibly including reduced expression of GABA(A) receptors. However, this hypothesis has not been directly tested in living adults with ASD. In this preliminary investigation, we used Positron Emission Tomography (PET) with the benzodiazepine receptor PET ligand [(11)C]Ro15-4513 to measure alpha1 and alpha5 subtypes of the GABA(A) receptor levels in the brain of three adult males with well-characterized high-functioning ASD compared with three healthy matched volunteers. We found significantly lower [(11)C]Ro15-4513 binding throughout the brain of participants with ASD (p < 0.0001) compared with controls. Planned region of interest analyses also revealed significant reductions in two limbic brain regions, namely the amygdala and nucleus accumbens bilaterally. Further analysis suggested that these results were driven by lower levels of the GABA(A) alpha5 subtype. These results provide initial evidence of a GABA(A) alpha5 deficit in ASD and support further investigations of the GABA system in this disorder. This article is part of a Special Issue entitled ‘Neurodevelopment Disorder’.
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9. Ryan S, Salisbury H. {{‘You know what boys are like’: pre-diagnosis experiences of parents of children with autism spectrum conditions}}. {Br J Gen Pract}. 2012; 62(598): 378-83.
Background The importance of early identification and intervention for children with autism spectrum conditions (ASC) has been established. However, there are often considerable delays from initial concern (by parent or professional) to diagnosis. Little is known about parents’ experiences of primary care in the pre-diagnosis period. Aim To identify feasible improvements to the management of primary care consultations with parents of children who might have ASC. Design and setting UK-based qualitative interview study. Method Semi-structured interviews with a diverse qualitative sample of 24 parents of children, aged between 3 and 11 years, who were diagnosed with ASC. Results Three types of parental concern emerged: first, parents who had no concerns about their children’s development before their diagnosis; secondly, parents who reported that they had some concerns but had not raised them with health professionals (passive concern); and thirdly, parents who had raised concerns about their children with health professionals (active concern). The passively concerned parents could not pin down exactly what it was about their children’s development that concerned them. Many of the actively concerned parents had been prematurely reassured by health professionals that there was nothing wrong. This left them feeling isolated and alone. Actively concerned parents who already had a child diagnosed with ASC did not experience a delay in diagnosis. Conclusion Health professionals should acknowledge parents’ concerns carefully; contrary to intentions, early reassurance may result in parents feeling that their concerns have not been heard. Parents may be the best resource in identifying ASC.
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10. Schieve LA, Rice C, Yeargin-Allsopp M, Boyle CA, Kogan MD, Drews C, Devine O. {{Parent-Reported Prevalence of Autism Spectrum Disorders in US-Born Children: An Assessment of Changes within Birth Cohorts from the 2003 to the 2007 National Survey of Children’s Health}}. {Matern Child Health J}. 2012; 16 Suppl 1: 151-7.
The prevalence of autism spectrum disorders (ASD) from the 2007 National Survey of Children’s Health (NSCH) was twice the 2003 NSCH estimate for autism. From each NSCH, we selected children born in the US from 1990 to 2000. We estimated autism prevalence within each 1-year birth cohort to hold genetic and non-genetic prenatal factors constant. Prevalence differences across surveys thus reflect survey measurement changes and/or external identification effects. In 2003, parents were asked whether their child was ever diagnosed with autism. In 2007, parents were asked whether their child was ever diagnosed with an ASD and whether s/he currently had an ASD. For the 1997-2000 birth cohorts (children aged 3-6 years in 2003 and 7-10 years in 2007), relative increases between 2003 autism estimates and 2007 ASD estimates were 200-600 %. For the 1990-1996 birth cohorts (children aged 7-13 years in 2003) increases were lower; nonetheless, differences between 2003 estimates and 2007 « ever ASD » estimates were >100 % for 6 cohorts and differences between 2003 estimates and 2007 « current ASD » estimates were >80 % for 3 cohorts. The magnitude of most birth cohort-specific differences suggests continuing diagnosis of children in the community played a sizable role in the 2003-2007 ASD prevalence increase. While some increase was expected for 1997-2000 cohorts, because some children have later diagnoses coinciding with school entry, increases were also observed for children ages >/=7 years in 2003. Given past ASD subtype studies, the 2003 « autism » question might have missed a modest amount (</=33 %) of ASDs other than autistic disorder.
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11. Shattuck PT, Roux AM, Hudson LE, Taylor JL, Maenner MJ, Trani JF. {{Services for adults with an autism spectrum disorder}}. {Can J Psychiatry}. 2012; 57(5): 284-91.
The need for useful evidence about services is increasing as larger numbers of children identified with an autism spectrum disorder (ASD) age toward adulthood. The objective of this review was to characterize the topical and methodological aspects of research on services for supporting success in work, education, and social participation among adults with an ASD and to propose recommendations for moving this area of research forward. We reviewed the literature published in English from 2000 to 2010 and found that the evidence base about services for adults with an ASD is underdeveloped and can be considered a field of inquiry that is relatively unformed. Extant research does not reflect the demographic or impairment heterogeneity of the population, the range of services that adults with autism require to function with purposeful lives in the community, and the need for coordination across service systems and sectors. Future studies must examine issues related to cost and efficiency, given the broader sociopolitical and economic context of service provision. Further, future research needs to consider how demographic and impairment heterogeneity have implications for building an evidence base that will have greater external validity.
12. Stahl D, Pickles A, Elsabbagh M, Johnson MH, The Basis T. {{Novel Machine Learning Methods for ERP Analysis: A Validation From Research on Infants at Risk for Autism}}. {Dev Neuropsychol}. 2012; 37(3): 274-98.
Machine learning and other computer intensive pattern recognition methods are successfully applied to a variety of fields that deal with high-dimensional data and often small sample sizes such as genetic microarray, functional magnetic resonance imaging (fMRI) and, more recently, electroencephalogram (EEG) data. The aim of this article is to discuss the use of machine learning and discrimination methods and their possible application to the analysis of infant event-related potential (ERP) data. The usefulness of two methods, regularized discriminant function analyses and support vector machines, will be demonstrated by reanalyzing an ERP dataset from infants ( Elsabbagh et al., 2009 ). Using cross-validation, both methods successfully discriminated above chance between groups of infants at high and low risk of a later diagnosis of autism. The suitability of machine learning methods for the use of single trial or averaged ERP data is discussed.
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13. Ying KC, Browne G, Hutchinson M, Cashin A, Binh BV. {{Autism in Vietnam: The Case for the Development and Evaluation of an Information Book to be Distributed at the Time of Diagnosis}}. {Issues Ment Health Nurs}. 2012; 33(5): 288-92.
Autism is not generally well understood by the community in the West or in Asia. A diagnosis of autism is distressing for all families. When families receive the diagnosis they are often not able to fully appreciate what it means or process the information given to them. Booklets exist in English that contain relevant autism related information but few have been evaluated. In Vietnam, parents do not have ready access to autism related information. This paper makes the case for offering a Vietnamese language information resource/booklet for parents to be distributed at the beginning of the diagnostic process and evaluating its usefulness. In developed countries autism has been recognised since the 1940s (Kanner, 1943 ). More recently it is being increasingly recognised in children with average and above intelligence. In Vietnam, a Western view of autism is just developing. Consequently community resources are undeveloped. The community, in general, and health services for children, in particular, have a rudimentary understanding of autism. This paper discusses a Western understanding of autism, autism in Vietnam, and suggests one possible strategy for addressing the educational needs around autism in Vietnam.
