1. Berry RJ. {{Maternal prenatal folic acid supplementation is associated with a reduction in development of autistic disorder}}. {J Pediatr};2013 (Jul);163(1):303-304.
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2. Cocks E, Thoresen S, Williamson M, Boaden R. {{The individual supported living (ISL) manual: a planning and review instrument for individual supported living arrangements for adults with intellectual and developmental disabilities}}. {J Intellect Disabil Res};2013 (Jun 24)
BACKGROUND: Following the closure of large residential facilities over the past several decades, emphasis on community living for adults with developmental disabilities has strengthened. However, the concept of community living is ambiguous. The term is often associated with congregation of people with disabilities in ordinary houses ‘in’ the community. Group homes, the most common contemporary formal expression of ‘community living’, may use ordinary houses and accommodate a small number of residents comparable to a large family. Individual supported living (ISL) arrangements around a single person with a disability using person-centred principles are occurring with increasing frequency. The ISL manual was developed over 4 years in two sequential research projects to produce a quality framework articulating ISL and operationalising the framework into a review and planning instrument for ISL arrangements. METHOD: The ISL manual was developed in three stages and overseen by a reference group of key stakeholders purposively recruited as well-versed in ISL. The first stage operationalised the quality framework over two half-day workshops with a group of key informants. Participants identified indicators and sources of evidence for each attribute of the quality framework. The quality framework, indicators, and sources of evidence were compiled into an initial evaluation instrument of nine themes consisting of 27 attributes. This was piloted in two rounds to enhance the utility of the instrument and develop the final manual which contained eight themes and 21 attributes. A comprehensive literature search was carried out to identify relevant empirical ISL studies. RESULTS: The literature search identified four empirical studies that incorporated ISL over the preceding 3 years. A previous literature search from the first research project that produced the quality framework spanned 27 years and identified five empirical studies. We concluded that the empirical base for developing evidence for the nature and outcomes of ISL arrangements was sparse. The ISL manual and scoring booklet developed in the current research project includes six illustrative case studies of ISL, instructions for potential users to review living arrangements or set up a new arrangement, and the review framework consisting of descriptions of themes and attributes, indicators, and sources of evidence. CONCLUSIONS: The dearth of empirical studies of ISL arrangements for people with developmental disabilities, despite increased policy emphasis on individualised options, underscores the importance of planning and review tools to promote quality outcomes. The ISL manual can assist adults with developmental disabilities, families, carers, and service providers to plan and review ISL arrangements. Further research will enhance the properties of this instrument and establish the relationship between quality of ISL arrangements and outcomes such as quality of life, and participation and inclusion.
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3. Fatemi SH, Folsom TD, Kneeland RE, Yousefi MK, Liesch SB, Thuras PD. {{Impairment of fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling and its downstream cognates ras-related C3 botulinum toxin substrate 1, amyloid beta A4 precursor protein, striatal-enriched protein tyrosine phosphatase, and homer 1, in autism: a postmortem study in cerebellar vermis and superior frontal cortex}}. {Mol Autism};2013 (Jun 26);4(1):21.
BACKGROUND: Candidate genes associated with idiopathic forms of autism overlap with other disorders including fragile X syndrome. Our laboratory has previously shown reduction in fragile X mental retardation protein (FMRP) and increase in metabotropic glutamate receptor 5 (mGluR5) in cerebellar vermis and superior frontal cortex (BA9) of individuals with autism. METHODS: In the current study we have investigated expression of four targets of FMRP and mGluR5 signaling – homer 1, amyloid beta A4 precursor protein (APP), ras-related C3 botulinum toxin substrate 1 (RAC1), and striatal-enriched protein tyrosine phosphatase (STEP) – in the cerebellar vermis and superior frontal cortex (BA9) via SDS-PAGE and western blotting. Data were analyzed based on stratification with respect to age (children and adolescents vs. adults), anatomic region of the brain (BA9 vs. cerebellar vermis), and impact of medications (children and adolescents on medications (n = 4) vs. total children and adolescents (n = 12); adults on medications (n = 6) vs. total adults (n = 12)). RESULTS: There were significant increases in RAC1, APP 120 kDa and APP 80 kDa proteins in BA9 of children with autism vs. healthy controls. None of the same proteins were significantly affected in cerebellar vermis of children with autism. In BA9 of adults with autism there were significant increases in RAC1 and STEP 46 kDa and a significant decrease in homer 1 vs. controls. In the vermis of adult subjects with autism, RAC1 was significantly increased while APP 120, STEP 66 kDa, STEP 27 kDa, and homer 1 were significantly decreased when compared with healthy controls. No changes were observed in vermis of children with autism. There was a significant effect of anticonvulsant use on STEP 46 kDa/beta-actin and a potential effect on homer 1/NSE, in BA9 of adults with autism. However, no other significant confound effects were observed in this study. CONCLUSIONS: Our findings provide further evidence of abnormalities in FMRP and mGluR5 signaling partners in brains of individuals with autism and open the door to potential targeted treatments which could help ameliorate the symptoms of autism.
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4. Ghanizadeh A, Sahraeizadeh A, Berk M. {{A Head-to-Head Comparison of Aripiprazole and Risperidone for Safety and Treating Autistic Disorders, a Randomized Double Blind Clinical Trial}}. {Child Psychiatry Hum Dev};2013 (Jun 26)
Aripiprazole and risperidone are the only FDA approved medications for treating irritability in autistic disorder, however there are no head-to-head data comparing these agents. This is the first prospective randomized clinical trial comparing the safety and efficacy of these two medications in patients with autism spectrum disorders. Fifty nine children and adolescents with autism spectrum disorders were randomized to receive either aripiprazole or risperidone for 2 months. The primary outcome measure was change in Aberrant Behavior Checklist (ABC) scores. Adverse events were assessed. Aripiprazole as well as risperidone lowered ABC scores during 2 months. The rates of adverse effects were not significantly different between the two groups. The safety and efficacy of aripiprazole (mean dose 5.5 mg/day) and risperidone (mean dose 1.12 mg/day) were comparable. The choice between these two medications should be on the basis of clinical equipoise considering the patient’s preference and clinical profile.
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5. Hagerman P. {{Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms}}. {Acta Neuropathol};2013 (Jul);126(1):1-19.
Since its discovery in 2001, our understanding of fragile X-associated tremor/ataxia syndrome (FXTAS) has undergone a remarkable transformation. Initially characterized rather narrowly as an adult-onset movement disorder, the definition of FXTAS is broadening; moreover, the disorder is now recognized as only one facet of a much broader clinical pleiotropy among children and adults who carry premutation alleles of the FMR1 gene. Furthermore, the intranuclear inclusions of FXTAS, once thought to be a CNS-specific marker of the disorder, are now known to be widely distributed in multiple non-CNS tissues; this observation fundamentally changes our concept of the disease, and may provide the basis for understanding the diverse medical problems associated with the premutation. Recent work on the pathogenic mechanisms underlying FXTAS indicates that the origins of the late-onset neurodegenerative disorder actually lie in early development, raising the likelihood that all forms of clinical involvement among premutation carriers have a common underlying mechanistic basis. There has also been great progress in our understanding of the triggering event(s) in FXTAS pathogenesis, which is now thought to involve sequestration of one or more nuclear proteins involved with microRNA biogenesis. Moreover, there is mounting evidence that mitochondrial dysregulation contributes to the decreased cell function and loss of viability, evident in mice even during the neonatal period. Taken together, these recent findings offer hope for early interventions for FXTAS, well before the onset of overt disease, and for the treatment of other forms of clinical involvement among premutation carriers.
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6. Hahn N, Geurten B, Gurvich A, Piepenbrock D, Kastner A, Zanini D, Xing G, Xie W, Gopfert MC, Ehrenreich H, Heinrich R. {{Monogenic heritable autism gene neuroligin impacts Drosophila social behaviour}}. {Behav Brain Res};2013 (Jun 19)
Autism spectrum disorders (ASDs) are characterized by deficits in social interactions, language development and repetitive behaviours. Multiple genes involved in the formation, specification and maintenance of synapses have been identified as risk factors for ASDs development. Among these are the neuroligin genes which code for postsynaptic cell adhesion molecules that induce the formation of presynapses, promote their maturation and modulate synaptic functions in both vertebrates and invertebrates. Neuroligin-deficient mice display abnormal social and vocal behaviours that resemble ASDs symptoms. Here we show for the fly Drosophila melanogaster that deletion of the dnl2 gene, coding for one of four Neuroligin isoforms, impairs social interactions, alters acoustic communication signals, and affects the transition between different behaviours. dnl2-Deficient flies maintain larger distances to conspecifics and males perform less female-directed courtship and male-directed aggressive behaviours while the patterns of these behaviours and general locomotor activity were not different from wild type controls. Since tests for olfactory, visual and auditory perception revealed no sensory impairments of dnl2-deficient mutants, reduced social interactions seem to result from altered excitability in central nervous neuropils that initiate social behaviours. Our results demonstrate that Neuroligins are phylogenetically conserved not only regarding their structure and direct function at the synapse but also concerning a shared implication in the regulation of social behaviours that dates back to common ancestors of humans and flies. In addition to previously described mouse models, Drosophila can thus be used to study the contribution of Neuroligins to synaptic function, social interactions and their implication in ASDs.
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7. Kawicka A, Regulska-Ilow B. {{How nutritional status, diet and dietary supplements can affect autism. A review}}. {Rocz Panstw Zakl Hig};2013;64(1):1-12.
Autism is a neurodevelopmental disorder with symptoms arising that are apparent throughout the patient’s lifespan. Autism Spectrum Disorders (ASD) are characterised by impaired social and communication interactions as well as restricted, repetitive interests and behaviour. Currently in Poland, about 50 000 people suffer from autism, of which 1/5 are children. Epidemiological studies show that the incidence of autism is increasing, which may be due to the diagnostic category of ASD having been developed. Of vital importance in the treatment of autism, is early diagnosis which is conducive to more rapidly improving the quality of patients’ health. It is believed that both genetic and environmental factors may affect the development of the disease. Moreover, expert opinion emphasises the importance of making an adequate diagnosis when the first symptoms of autism start appearing which can be both psychological, gastro-intestinal and metabolic ones. Conventional treatment is based on the combination of behavioural and dietary therapy together with pharmacotherapy. For example, adapting an appropriate diet could help alleviate the disease severity, as well as the psychological and gastrointestinal symptoms. Much scientific research has indicated that pathogenesis of autism may have a beginning already in foetal life. During pregnancy, specialists should take special heed of metabolic disorders, which can increase the risk ofASD in children. One of the dietician’s tasks are to properly assess the nutritional status of mothers before and during pregnancy, thereby allowing changes in nutrition to be made wherever necessary in order that metabolic indicators be improved. Thus an important part of autism therapy is the improving patient’s nutritional status to prevent the onset of gastrointestinal symptoms. Adopting diets and tailored to individual disease symptoms, is linked to the nutritional requirements and food preferences of the patient. Specialists also emphasise that continual monitoring of the diet and nutritional status of children with ASD is required. It is also essential to start adequate dietary management in autistic patients with overweight, obesity or wasting, caused by improper nutrition. Frequently only a dietary therapy is insufficient to effectively treat autism. Many studies demonstrate the need to supplement the nutritional deficiencies of autistic patients with fatty acids omega-3, probiotics, vitamins and minerals in combination with medical and psychological interventions. A properly designed elimination diet adapted to the patient’s individual may also lead to relief of the autism symptoms and the occurrence of gastrointestinal disorders. Parents and caregivers should therefore be aware of the benefits of nutritional therapy and need for proper monitoring the treatment of patients with ASD. A review of nutritional factors, dietary treatments and diet supplementation in patients with ASD is presented.
8. M OH, Sweeney J, Doody O. {{Exploring fathers’ perceptions of parenting a child with Asperger syndrome}}. {J Intellect Disabil};2013 (Jun 26)
This study explores Irish fathers’ perceptions of parenting a child with Asperger syndrome (AS). Ethical approval was granted by the service provider, and Husserlian phenomenological approach facilitated the exploration. Data were collected through semi-structured interviews of nine fathers in the West region of Ireland. Data were transcribed and analysed using Colaizzi’s (1978) method. The study highlighted that parenting a child with AS is an arduous task, but while there are difficulties, many positive aspects to their parenting experience were reported. Overall, the study highlights the importance of listening to parents and their initial concerns regarding their child’s development.
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9. Memari AH, Shayestehfar M, Mirfazeli FS, Rashidi T, Ghanouni P, Hafizi S. {{Cross-cultural adaptation, reliability, and validity of the autism treatment evaluation checklist in persian}}. {Iran J Pediatr};2013 (Jun);23(3):269-275.
OBJECTIVE: The objectives of the current study were to translate and adapt Autism Treatment Evaluation Checklist (ATEC) into Persian language and to investigate its reliability and validity in an Iranian autistic sample. METHODS: A total sample of 134 children with autism spectrum disorders aged 6-15 years were assigned to the study. The process of cross-cultural adaptation was performed according to international methodological steps as following: translation, back-translation, revision by an expert committee and pretest. A sample of 20 primary caregivers of autistic children were pretested. The content validity of the ATEC was reviewed by the expert committee all through the stages. The construct quality of the questionnaire was evaluated by comparison of the adapted version of the instrument with similar tests assessed similar factors. Moreover, the reliability of the questionnaire was evaluated through stability and homogeneity assessments. FINDINGS: The results showed good content validity and internal consistency (Cronbach’s alpha: 0.86-0.93). In relation to construct validity, there was significant correlation between ATEC subscales and raw data obtained from Autism Diagnostic Interview-Revised (ADI-R) (r=0.38-0.79). The Intraclass Correlation Coefficient for the test-retest reliability was excellent for all the subscales and also for total scores (ICC: 0.79 – 0.93). CONCLUSION: Cross-cultural adaptation of ATEC was successful. The psychometric properties were verified and indicated that the adapted questionnaire is valid and reliable to use in Iranian culture.
10. Pooragha F, Kafi SM, Sotodeh SO. {{Comparing response inhibition and flexibility for two components of executive functioning in children with autism spectrum disorder and normal children}}. {Iran J Pediatr};2013 (Jun);23(3):309-314.
OBJECTIVE: The aim of this study was investigating and comparing two components of executive functioning in children with high function autism with normal children. METHODS: This study was correlation descriptive (causal-comparative). There were two groups, one consisted of 15 participants of children with high function autism disorder (Intelligence quotient [IQ]>80) and the other consisted of 15 normal children, all age and education matched. They were compared with two neuro-cognitive tests, Color Word Stroop and Wisconsin Card Sorting, and one IQ test called Ravens Progressive Matrices test. FINDINGS: Analysis of data showed significant difference in both executive functionings, response inhibition (Stroop) and flexibility (Wisconsin Card Sorting) between normal children and children with autism disorder, but there was no significant relation between age and IQ and executive functioning in children with autism. CONCLUSION: The results showed that children with autism disorder have deficits in executive functions regardless of their IQ level and it can be attributed to the symptoms of autism spectrum disorders.
11. Roy M, Ohlmeier MD, Osterhagen L, Prox-Vagedes V, Dillo W. {{Asperger syndrome: a frequent comorbidity in first diagnosed adult ADHD patients?}}. {Psychiatr Danub};2013 (Jun);25(2):133-141.
BACKGROUND: Because adult ADHD is often accompanied by psychiatric comorbidities, the diagnostic process should include a thorough investigation for comorbid disorders. Asperger-Syndrome is rarely reported in adult ADHD and commonly little attention is paid to this possible comorbidity. SUBJECTS AND METHODS: We investigated 53 adult ADHD-patients which visited our out patient clinic for first ADHD-diagnosis (17 females, 36 males; range of age: 18-56 years) for the frequency of a comorbid Asperger-Syndrome. Diagnosis of this autism-spectrum disorder was confirmed by applying the appropriate DSM-IV-criteria. Additionally we tested the power of the two screening-instruments « Autism-spectrum quotient » (AQ) and « Empathy quotient » (EQ) by Baron-Cohen for screening Asperger-Syndrome in adult ADHD. RESULTS: Eight ADHD-patients were diagnosed with a comorbid Asperger-Syndrome (15.1%). The difference in AQ- and EQ-scores between pure ADHD-patients and comorbid patients was analysed, showing significantly higher scores in AQ and significant lower scores in EQ in comorbid patients. CONCLUSIONS: Results show that the frequency of Asperger-Syndrome seems to be substantially increased in adult ADHD (versus the prevalence of 0.06% in the general population), indicating that investigators of adult ADHD should also be attentive to autism-spectrum disorders. Especially the AQ seems to be a potential screening instrument for Asperger-Syndrome in adult ADHD-patients.
12. Uddin LQ, Supekar K, Lynch CJ, Khouzam A, Phillips J, Feinstein C, Ryali S, Menon V. {{Salience Network-Based Classification and Prediction of Symptom Severity in Children With Autism}}. {JAMA Psychiatry};2013 (Jun 26):1-11.
IMPORTANCE Autism spectrum disorder (ASD) affects 1 in 88 children and is characterized by a complex phenotype, including social, communicative, and sensorimotor deficits. Autism spectrum disorder has been linked with atypical connectivity across multiple brain systems, yet the nature of these differences in young children with the disorder is not well understood. OBJECTIVES To examine connectivity of large-scale brain networks and determine whether specific networks can distinguish children with ASD from typically developing (TD) children and predict symptom severity in children with ASD. DESIGN, SETTING, AND PARTICIPANTS Case-control study performed at Stanford University School of Medicine of 20 children 7 to 12 years old with ASD and 20 age-, sex-, and IQ-matched TD children. MAIN OUTCOMES AND MEASURES Between-group differences in intrinsic functional connectivity of large-scale brain networks, performance of a classifier built to discriminate children with ASD from TD children based on specific brain networks, and correlations between brain networks and core symptoms of ASD. RESULTS We observed stronger functional connectivity within several large-scale brain networks in children with ASD compared with TD children. This hyperconnectivity in ASD encompassed salience, default mode, frontotemporal, motor, and visual networks. This hyperconnectivity result was replicated in an independent cohort obtained from publicly available databases. Using maps of each individual’s salience network, children with ASD could be discriminated from TD children with a classification accuracy of 78%, with 75% sensitivity and 80% specificity. The salience network showed the highest classification accuracy among all networks examined, and the blood oxygen-level dependent signal in this network predicted restricted and repetitive behavior scores. The classifier discriminated ASD from TD in the independent sample with 83% accuracy, 67% sensitivity, and 100% specificity. CONCLUSIONS AND RELEVANCE Salience network hyperconnectivity may be a distinguishing feature in children with ASD. Quantification of brain network connectivity is a step toward developing biomarkers for objectively identifying children with ASD.
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13. Zachor DA, Ben-Itzchak E. {{The Relationship Between Clinical Presentation and Unusual Sensory Interests in Autism Spectrum Disorders: A Preliminary Investigation}}. {J Autism Dev Disord};2013 (Jun 25)
Unusual responses to sensory stimuli have been described in autism spectrum disorder (ASD).The study examined the frequencies of ‘unusual sensory interests’ and ‘negative sensory responses’ and their relation to functioning in a large ASD population (n = 679). Having ‘unusual sensory interests’ was reported in 70.4 % and ‘negative sensory responses’ in 66.0 % of the ASD group. Having ‘unusual sensory interests’ was associated with more severe reported and observed autism symptoms, lower cognitive ability and lower adaptive skills. In contrast, having ‘negative sensory responses’ was only associated with more severe reported stereotyped behaviors. It is suggested that having ‘unusual sensory interests’ is a part of a primary more severe type of ASD involving numerous developmental domains that might have a unique neurobiological origin.
