1. Aksu F, Baykara B, Ergin C, Arman C. {{[Phenotypic Features in Autistic Individuals: The Finger Length Ratio (2D:4D), Hair Whorl, and Hand Dominance]}}. {Turk Psikiyatri Derg};2013 (Summer);24(2):94-100.
OBJECTIVE: The aim of this study was to compare the finger length ratio (2D:4D), hair whorl direction, and hand, foot, and eye dominance in autistic and healthy individuals, and to investigate the phenotypic characteristics of autism. MATERIALS AND METHODS: The study included 37 males diagnosed with autistic disorder and 121 healthy males, all aged 4-18 years. The length of the index and ring fingers of both hands (3/4) from the proximal bend of the metacarpophalangeal joint to the fingertips (3/4) was measured with digital calipers and the index-ring finger (2D:4D) ratio was determined. The distance between hair whorls, their perpendicular distance from the mid-sagittal line, and their direction of rotation were calculated in the autism and control groups. Hand, foot, and eye dominance were determined in both groups. The findings were evaluated using SPSS v.15.0. RESULTS: The autism group had a greater number of hair whorls than the control group. The distance between hair whorls and the mid-sagittal line was longer in those with left hand and left eye dominance. A significant difference in the 2D:4D ratio of the right and left hands between the 2 groups was not observed. CONCLUSION: The autism group had more hair whorls than the control group and the hair whorls in the autistic individuals with left hand and left eye dominance were located further from the mid-saggital line. We think that these novel findings might contribute to the determination of the phenotypic features specific to autism.
2. Banerjee A, Garcia-Oscos F, Roychowdhury S, Galindo LC, Hall S, Kilgard MP, Atzori M. {{Impairment of cortical GABAergic synaptic transmission in an environmental rat model of autism}}. {Int J Neuropsychopharmacol};2013 (Jul);16(6):1309-1318.
The biological mechanisms of autism spectrum disorders (ASDs) are largely unknown in spite of extensive research. ASD is characterized by altered function of multiple brain areas including the temporal cortex and by an increased synaptic excitation:inhibition ratio. While numerous studies searched for evidence of increased excitation in ASD, fewer have investigated the possibility of reduced inhibition. We characterized the cortical gamma-amino butyric acid (GABA)ergic system in the rat temporal cortex of an ASD model [offspring of mothers prenatally injected with valproic acid (VPA)], by monitoring inhibitory post-synaptic currents (IPSCs) with patch-clamp. We found that numerous features of inhibition were severely altered in VPA animals compared to controls. Among them were the frequency of miniature IPSCs, the rise time and decay time of electrically-evoked IPSCs, the slope and saturation of their input/output curves, as well as their modulation by adrenergic and muscarinic agonists and by the synaptic GABAA receptor allosteric modulator zolpidem (but not by the extra-synaptic modulator gaboxadol). Our data suggest that both pre- and post-synaptic, but not extra-synaptic, inhibitory transmission is impaired in the offspring of VPA-injected mothers. We speculate that impairment in the GABAergic system critically contributes to an increase in the ratio between synaptic excitation and inhibition, which in genetically predisposed individuals may alter cortical circuits responsible for emotional, communication and social impairments at the core of ASD.
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3. Bang J, Burns J, Nadig A. {{Brief report: conveying subjective experience in conversation: production of mental state terms and personal narratives in individuals with high functioning autism}}. {J Autism Dev Disord};2013 (Jul);43(7):1732-1740.
Mental state terms and personal narratives are conversational devices used to communicate subjective experience in conversation. Pre-adolescents with high-functioning autism (HFA, n = 20) were compared with language-matched typically-developing peers (TYP, n = 17) on production of mental state terms (i.e., perception, physiology, desire, emotion, cognition) and personal narratives (sequenced retelling of life events) during short conversations. HFA and TYP participants did not differ in global use of mental state terms, nor did they exhibit reduced production of cognitive terms in particular. Participants with HFA produced significantly fewer personal narratives. They also produced a smaller proportion of their mental state terms during personal narratives. These findings underscore the importance of assessing and developing qualitative aspects of conversation in highly verbal individuals with autism.
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4. Barneveld PS, de Sonneville L, van Rijn S, van Engeland H, Swaab H. {{Impaired response inhibition in autism spectrum disorders, a marker of vulnerability to schizophrenia spectrum disorders?}}. {J Int Neuropsychol Soc};2013 (Jul);19(6):646-655.
In this study, we addressed the relation between specific deficits in cognitive control and schizotypal symptomatology in adolescents with autism spectrum disorders (ASD) diagnosed in childhood. We aimed to identify cognitive control deficits as markers of vulnerability to the development of schizophrenia spectrum pathology in ASD. Symptoms of autism and the risk for schizotypal symptomatology were assessed in 29 high-functioning adolescents with ASD, and compared with 40 typically developing adolescents. Cognitive control (response inhibition, mental flexibility, visuo-motor control, interference control, and perseveration) was evaluated for specific association with schizotypal symptomatology. Impaired response inhibition appeared to be strongly and specifically associated with schizotypal symptomatology in adolescents with ASD, especially those with positive and disorganized symptoms. Response inhibition problems could indicate vulnerability to the development of schizotypal symptomatology in ASD. (JINS, 2013, 19, 1-10).
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5. 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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6. Bourke-Taylor H, Pallant JF. {{The Assistance to Participate Scale to measure play and leisure support for children with developmental disability: update following Rasch analysis}}. {Child Care Health Dev};2013 (Jul);39(4):544-551.
BACKGROUND: The Assistance to Participate Scale (APS) was designed to measure the primary carer’s estimate of the amount of assistance that their school-aged child with a disability requires to participate in play and leisure activities. Previous research suggests that the 8-item APS has good internal consistency. The construct validity of the scale is supported by strong correlations with instruments measuring similar constructs and discrimination between groups of children with developmental disability, based on extent of need for caregiver assistance. AIM: The aim of this current study was to undertake further evaluation of the psychometric properties of the APS using Rasch analysis. METHOD: Rasch analysis was conducted using the RUMM2030 program to assess the APS items in terms of their overall fit to the Rasch model, individual item fit, response format, targeting and dimensionality. RESULTS: Rasch analysis showed good fit to the model, with no misfitting items and good internal consistency (PSI = 0.85). There was no differential item functioning across mothers’ age, education level or child’s age. Dimensionality testing supported the combination of all items to create a total score. Most items showed disordered thresholds, suggesting some inconsistencies in the way respondents used the response scale options. CONCLUSIONS: The APS has been subjected to substantial psychometric testing during development and evaluation, revealing a sound, brief and easy-to-use scale. The APS has a number of potential clinical and research uses measuring the amount of additional assistance that children require from their primary care giver to participate in play activities.
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7. Burbelo PD, Swedo SE, Thurm A, Bayat A, Levin AE, Marques A, Iadarola MJ. {{Lack of Serum Antibodies against Borrelia burgdorferi in Children with Autism}}. {Clin Vaccine Immunol};2013 (Jul);20(7):1092-1093.
It has been proposed that Borrelia burgdorferi infection is present in approximately 25% of children with autism spectrum disorders. In this study, antibodies against Borrelia burgdorferi were assessed in autistic (n = 104), developmentally delayed (n = 24), and healthy control (n = 55) children. No seropositivity against Borrelia burgdorferi was detected in the children with and without autism. There was no evidence of an association between Lyme disease and autism.
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8. Chapleau CA, Lane J, Kirwin SM, Schanen C, Vinette KM, Stubbolo D, Macleod P, Percy AK. {{Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome}}. {Am J Med Genet A};2013 (Jul);161(7):1638-1646.
The objective of our study was to characterize the influence of multiple mutations in the MECP2 gene in a cohort of individuals with Rett syndrome. Further analysis demonstrated that nearly all resulted from de novo in cis mutations, where the disease severity was indistinguishable from single mutations. Our methods involved enrolling participants in the RTT Natural History Study (NHS). After providing informed consent through their parents or principal caretakers, additional molecular assessments were performed in the participants and their parents to assess the presence and location of more than one mutation in each. Clinical severity was assessed at each visit in those participants in the NHS. Non-contiguous MECP2 gene variations were detected in 12 participants and contiguous mutations involving a deletion and insertion in three participants. Thirteen of 15 participants had mutations that were in cis; four (of 13) had three MECP2 mutations; two (of 15) had mutations that were both in cis and in trans (i.e., on different alleles). Clinical severity did not appear different from NHS participants with a single similar mutation. Mutations in cis were identified in most participants; two individuals had mutations both in cis and in trans. The presence of multiple mutations was not associated with greater severity. Nevertheless, multiple mutations will require greater thought in the future, if genetic assignment to drug treatment protocols is considered. (c) 2013 Wiley Periodicals, Inc.
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9. Chevallier C, Huguet P, Happe F, George N, Conty L. {{Salient Social Cues are Prioritized in Autism Spectrum Disorders Despite Overall Decrease in Social Attention}}. {J Autism Dev Disord};2013 (Jul);43(7):1642-1651.
Diminished social attention is often considered to be a central deficit in autism spectrum disorders (ASDs). We further investigate this hypothesis by measuring the distracting power of social and non-social stimuli in the context of a Stroop task among children with ASD and typically developing controls (TDCs). Our results show that Stroop interference increases with social versus non-social distracters in TDCs, whereas the opposite pattern occurs in ASD. Within social stimuli, however, the superiority of direct gaze previously reported in the literature did not differ between the groups. Our data thus suggest that ASD children assign less weight to social than non-social stimuli, but that within social signals, salient stimuli remain prioritized.
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10. Clifford T, Minnes P. {{Logging on: evaluating an online support group for parents of children with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Jul);43(7):1662-1675.
Twenty mothers participated in an online support group for parents of children with autism spectrum disorders. Twenty-five unrelated parents participated in a no-treatment control group. The participants completed online questionnaires prior to and following the 4-month support group, to evaluate changes in mood, anxiety, parenting stress, and positive perceptions. No significant differences between the groups or across time were found. However, parents who participated in the group reported being satisfied with the support they received and finding the group helpful. Issues related to participant recruitment and retention are discussed. Further research is required to investigate the efficacy of online support groups for parents of children with ASD.
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11. Das UN. {{Nutritional factors in the pathobiology of autism}}. {Nutrition};2013 (Jul-Aug);29(7-8):1066-1069.
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12. Dealberto MJ. {{Are different subtypes of autism spectrum disorders associated with different factors?}}. {Acta Psychiatr Scand};2013 (Jul);128(1):1-2.
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13. Ellmore TM, Li H, Xue Z, Wong ST, Frye RE. {{Tract-Based Spatial Statistics Reveal Altered Relationship Between Non-verbal Reasoning Abilities and White Matter Integrity in Autism Spectrum Disorder}}. {J Int Neuropsychol Soc};2013 (Jul);19(6):723-728.
Altered brain connectivity accompanies autism spectrum disorders (ASD), but the relationship between connectivity and intellectual abilities, which often differs within ASD, and between ASD and typically developing (TD) children, is not understood. Here, diffusion tensor imaging (DTI) was used to explore the relationship between white matter integrity and non-verbal intelligence quotients (IQ) in children with ASD and in age- and gender-matched TD children. Tract-based spatial statistical analyses (TBSS) of DTI fractional anisotropy (FA) revealed altered relationships between white matter and IQ. Different relationships were found using within-group analyses, where regions of significant (p < .05, corrected) correlations in ASD overlapped minimally with regions of FA-IQ correlations in TD subjects. An additional between-groups analysis revealed significant correlation differences in widespread cortical and subcortical areas. These preliminary findings suggest altered brain connectivity may underlie some differences in intellectual abilities of ASD, and should be investigated further in larger samples as a function of development. (JINS, 2013, 19, 1-6).
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14. Erickson CA, Wink LK, Ray B, Early MC, Stiegelmeyer E, Mathieu-Frasier L, Patrick V, Lahiri DK, McDougle CJ. {{Impact of acamprosate on behavior and brain-derived neurotrophic factor: an open-label study in youth with fragile X syndrome}}. {Psychopharmacology (Berl)};2013 (Jul);228(1):75-84.
RATIONALE: Fragile X syndrome (FXS) is an inherited form of developmental disability and a single gene cause of autism. As a disorder with increasingly understood pathophysiology, FXS is a model form of developmental disability for targeted drug development efforts. Preclinical animal model findings have focused targeted drug treatment development in FXS on an imbalance between excessive glutamate and deficient gamma-aminobutyric acid (GABA) neurotransmission. METHODS: We conducted a prospective open-label 10-week trial of acamprosate in 12 youth aged 6-17 years (mean age: 11.9 years) with FXS. RESULTS: Acamprosate use (mean dose: 1,054 +/- 422 mg/day) was associated with treatment response (defined by a Clinical Global Impressions Improvement (CGI-I) scale score of « very much improved » or « much improved ») in nine of 12 (75 %) subjects. Improvement was noted in social behavior and inattention/hyperactivity using multiple standard behavioral outcome measures. No significant adverse effects or changes in vital signs, including weight or laboratory measures, occurred during treatment with acamprosate. Additionally, pre- and post-treatment blood biomarker analyses looking at brain-derived neurotrophic factor (BDNF) levels found a significant increase in BDNF with treatment. In our pilot sample, treatment response did not correlate with change in BDNF with treatment. CONCLUSIONS: Acamprosate was generally safe and well tolerated and was associated with a significant improvement in social behavior and a reduction in inattention/hyperactivity. The increase in BDNF that occurred with treatment may be a useful pharmacodynamic marker in future acamprosate studies. Given these findings, a double-blind, placebo-controlled study of acamprosate in youth with FXS is warranted.
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15. Gentile I, Zappulo E, Militerni R, Pascotto A, Borgia G, Bravaccio C. {{Etiopathogenesis of autism spectrum disorders: Fitting the pieces of the puzzle together}}. {Med Hypotheses};2013 (Jul);81(1):26-35.
Autism spectrum disorders (ASD) are disorders of the central nervous system characterized by impairments in communication and social reciprocity. Despite thousands of studies on this topic, the etiopathogenesis of these disorders remains unclear, apart from a general belief that they derive from an interaction between several genes and the environment. Given the mystery surrounding the etiopathogenesis of ASD it is impossible to plan effective preventive and treatment measures. This is of particular concern due to the progressive increase in the prevalence of ASD, which has reached a figure as high as 1:88 children in the USA. Here we present data corroborating a novel unifying hypothesis of the etiopathogenesis of ASD. We suggest that ASD are disorders of the immune system that occur in a very early phase of embryonic development. In a background of genetic predisposition and environmental predisposition (probably vitamin D deficiency), an infection (notably a viral infection) could trigger a deranged immune response which, in turn, results in damage to specific areas of the central nervous system. If proven, this hypothesis would have dramatic consequences for strategies aimed at preventing and treating ASD. To confirm or refute this hypothesis, we need a novel research approach, which unlike former approaches in this field, examine the major factors implicated in ASD (genetic, infections, vitamin D deficiency, immune system deregulation) not separately, but collectively and simultaneously.
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16. Giarelli E, Fisher K. {{Transition to community by adolescents with Asperger syndrome: Staying afloat in a sea change}}. {Disabil Health J};2013 (Jul);6(3):227-235.
BACKGROUND: Transition to community (TC) is the movement out of secondary school to independent living or higher education. It is challenging for young people who have typical neurodevelopment and daunting for those who have neurodevelopmental characteristics associated with Asperger syndrome (AS). OBJECTIVE: This grounded theory study describes the phenomenon of transition to community among adolescents and young adults with AS. METHODS: Audiotaped interviews were transcribed verbatim and analyzed using constant comparison to explore the socially constructed phenomenon of TC. Our sample comprised 36 participants from four groups deemed central to the phenomenon including: individuals with AS age 18-22 years (N = 13), parents (n = 13); and five each of educators and potential employers. RESULTS: The core psychosocial problem of TC is to stay afloat while feeling « adrift. » This problem was experienced by the individual with AS, and parents and others were observers and facilitators. Adolescents, with the support of parents, teachers and sympathetic employers solved this problem by using three psychosocial processes of structuring, anchoring, and embarking. CONCLUSIONS: Clinicians who work with this population, potential employers, and educators are stakeholders who can apply our findings to the development of effective and personalized transition services. Findings from our study are grounded in the experiences of participants, and therefore, have explicit practical value. The conceptual model of TC can be used by health care providers, educators, employers and parents to guide adolescents as they transition to community.
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17. 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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18. Hendren RL. {{Autism: biomedical complementary treatment approaches}}. {Child Adolesc Psychiatr Clin N Am};2013 (Jul);22(3):443-456.
This article provides a conceptual overview for the use of biomedical complementary and alternative medicine (CAM) treatments for autism spectrum disorders. Pharmaceutical agents with published studies are briefly mentioned; but the focus of the article is on possible biomedical CAM treatments, the rationale for their use, and the current database of mostly preliminary studies regarding their safety and efficacy. Of the more than 50 treatments currently listed here and in use by eager families, 9 are reviewed in more detail because of their promise from preliminary research studies or because of public interest.
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19. Isaksen J, Diseth TH, Schjolberg S, Skjeldal OH. {{Autism Spectrum Disorders – Are they really epidemic?}}. {Eur J Paediatr Neurol};2013 (Jul);17(4):327-333.
AIM: The aim of this paper is to report on how different external methodological factors influence estimates of ASD prevalence. METHODS: PubMed searches was conducted using the search terms, « Autism », « Autistic Disorder », « Autism Spectrum Disorders », « Asperger », « Prevalence » and « epidemiology », in combination. In total 49 studies were included. We also performed a manual search for and reviewed related articles referenced in the original articles. RESULTS: The reported prevalence rates of ASD vary widely, and so do the methodology used in the studies. CONCLUSION: There are reasons to argue that the methods used in some studies cause the high prevalence rates reported recently.
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20. Kamio Y, Inada N, Moriwaki A, Kuroda M, Koyama T, Tsujii H, Kawakubo Y, Kuwabara H, Tsuchiya KJ, Uno Y, Constantino JN. {{Quantitative autistic traits ascertained in a national survey of 22 529 Japanese schoolchildren}}. {Acta Psychiatr Scand};2013 (Jul);128(1):45-53.
OBJECTIVE: Recent epidemiologic studies worldwide have documented a rise in prevalence rates for autism spectrum disorders (ASD). Broadening of diagnostic criteria for ASD may be a major contributor to the rise in prevalence, particularly if superimposed on an underlying continuous distribution of autistic traits. This study sought to determine the nature of the population distribution of autistic traits using a quantitative trait measure in a large national population sample of children. METHOD: The Japanese version of the Social Responsiveness Scale (SRS) was completed by parents on a nationally representative sample of 22 529 children, age 6-15. RESULTS: Social Responsiveness Scale scores exhibited a skewed normal distribution in the Japanese population with a single-factor structure and no significant relation to IQ within the normal intellectual range. There was no evidence of a natural ‘cutoff’ that would differentiate populations of categorically affected children from unaffected children. CONCLUSION: This study provides evidence of the continuous nature of autistic symptoms measured by the SRS, a validated quantitative trait measure. The findings reveal how paradigms for diagnosis that rest on arbitrarily imposed categorical cutoffs can result in substantial variation in prevalence estimation, especially when measurements used for case assignment are not standardized for a given population.
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21. Karam RA, Rezk NA, Abdelrahman HM, Hassan TH, Mohammad D, Hashim HM, Fattah NR. {{Catechol-O-methyltransferase Val158Met polymorphism and hyperactivity symptoms in Egyptian children with autism spectrum disorder}}. {Res Dev Disabil};2013 (Jul);34(7):2092-2097.
Catechol-O-methyltransferase (COMT) plays an important role in the catabolism of brain dopamine and norepinephrine, which have been implicated in the pathogenesis of Autism spectrum disorder (ASD) as well as in other neuropsychatric disorders. We aimed to investigate the association of COMT Val158Met gene polymorphism with ASD and to examine the influence of such genotypes on hyperactivity symptoms in ASD patients. Eighty ASD patients (mean age 9+/-1.9 years) and 100 control children (mean age 8.9+/-1.9 years) were examined. COMT Val58Met polymorphism was genotyped using Tetra-primer ARMS-PCR method. The clinical diagnosis of ASD and ADHD were confirmed according to the DSM-IV criteria for research. We found no significant difference in genotypes or alleles’ frequencies of COMT Val158Met polymorphism between ASD patients and control group. There was a significant association between COMT (Val/Val) genotype and both increasing CARS (p=0.001) and hyperactivity scores (p=0.006). Regarding Conner’s Score, the DSM-IV hyperactive impulsive were significantly higher in Val/Val genotype than both Met/Val and Met/Met genotypes (p=0.03). Our data suggested an association between COMT Val58Met polymorphism and hyperactivity symptoms in Egyptian children with ASD.
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22. Karlsson L, Rastam M, Wentz E. {{The SWedish Eating Assessment for Autism spectrum disorders (SWEAA)-Validation of a self-report questionnaire targeting eating disturbances within the autism spectrum}}. {Res Dev Disabil};2013 (Jul);34(7):2224-2233.
The aim was to design and validate a questionnaire pertaining to eating problems in individuals with normal intelligence, within the autism spectrum. The questionnaire was based on literature search and clinical experience. The validation focused on psychometric properties of reliability and validity using a clinical group of individuals with autism spectrum disorders (ASD) (n=57) and a matched, healthy comparison group (n=31). The instrument showed high levels of reliability, convergent and discriminant validity and scaling properties. Logistic regression analyses discerned the single item Simultaneous capacity and the subscale Social situation at mealtime as the best predictors of ASD. In conclusion, the questionnaire is valid and reliable to detect disturbed eating behaviours in individuals with ASD and normal intelligence.
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23. Kite DM, Gullifer J, Tyson GA. {{Views on the Diagnostic Labels of Autism and Asperger’s Disorder and the Proposed Changes in the DSM}}. {J Autism Dev Disord};2013 (Jul);43(7):1692-1700.
With the approaching release of the DSM V in 2013, there has been much debate about the proposal to remove the diagnostic label of Asperger’s disorder from the new DSM. This study explored how health and education professionals perceive the conditions of autism and Asperger’s disorder and their views on the proposed diagnostic changes. Analysis of the 547 participant responses confirmed an increase stigma is associated with the label of autism, with autism considered to be a more severe than the condition of Asperger’s disorder. Approximately half of the participants reported being opposed to proposed diagnostic changes and of the remaining participants, 22 % supported the proposed changes and 28 % expressed uncertainty.
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24. Kopecky K, Broder-Fingert S, Iannuzzi D, Connors S. {{The needs of hospitalized patients with autism spectrum disorders: a parent survey}}. {Clin Pediatr (Phila)};2013 (Jul);52(7):652-660.
Objective. This survey assessed the in-hospital needs of patients diagnosed with autism spectrum disorders (ASDs). Methods. Parents were recruited to complete a 21-item survey about the needs of their child with an ASD while in the hospital. ASD diagnosis was reported by parents at the time of the survey. The results of the survey were analyzed and evaluated in 3 distinct categories of need. Results. We documented a range of responses associated with ASD-specific needs during hospitalization. Common concerns included child safety and the importance of acknowledging individual communication methods. Conclusions. In a population of children with ASDs, parents report a diverse range of needs while in the hospital. These data support the concept that a pragmatic assessment of individual communication and sensory differences is likely to be essential in the development of an appropriate inpatient care plan.
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25. Lafauci G, Adayev T, Kascsak R, Nolin S, Mehta P, Brown WT, Dobkin C. {{Fragile X Screening by Quantification of FMRP in Dried Blood Spots by a Luminex Immunoassay}}. {J Mol Diagn};2013 (Jul);15(4):508-517.
Fragile X is the most common inherited cause of intellectual disability and is frequently associated with autism. The syndrome is due to mutations of the FMR1 gene that result in the absence of fragile X mental retardation protein (FMRP). We have developed a rapid, highly sensitive method for quantifying FMRP from dried blood spots and lymphocytes. This assay uses two new antibodies, a bacterially expressed abbreviated FMRP standard, and a Luminex platform to quantify FMRP. The assay readily distinguished between samples from males with fragile X full mutations and samples from normal males. It also differentiated mosaic from nonmosaic full-mutation male samples. This assay, because of its methodology and minimal cost, could be the basis for newborn or population screening.
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26. Li J, Liu J, Zhao L, Ma Y, Jia M, Lu T, Ruan Y, Li Q, Yue W, Zhang D, Wang L. {{Association study between genes in Reelin signaling pathway and autism identifies DAB1 as a susceptibility gene in a Chinese Han population}}. {Prog Neuropsychopharmacol Biol Psychiatry};2013 (Jul);44:226-232.
Autism is a pervasive neurodevelopmental disorder diagnosed in early childhood. The genetic factors might play an important role in its pathogenesis. Previous studies revealed that Reelin (RELN) polymorphisms were associated with autism. However, the roles of genes in Reelin signaling pathway for autism are largely unknown. As several knockout mice models in which the Reelin pathway genes (i.e. DAB1, VLDLR/APOER2, FYN/SRC and CRK/CRKL) are deficient have the similar phenotype as the reeler mice (Reelin(-/-)), we hypothesized that the Reelin signaling pathway genes might play roles in the etiology of autism. Therefore, we conducted a family-based association study. Sixty-two tagged single nucleotide polymorphisms (SNPs) covering 15 genes in Reelin pathway were genotyped in 239 trios, and 14 significant SNPs were further investigated in the additional 188 trios. In the total 427 trios, we found significant genetic association between autism and four SNPs in DAB1 (rs12035887 G: p=0.0006; rs3738556 G: p=0.0044; rs1202773 A: p=0.0048; rs12740765 T: p=0.0196). After the Bonferroni correction, SNP rs12035887 remained significant. Furthermore, the haplotype constructed with rs1202773 and rs12023109 in DAB1 showed significant excess transmission in both individual and global haplotype analyses (p=0.0052 and 0.0279, respectively). Our findings suggested that variations in DAB1 involved in the Reelin signaling pathway might contribute to genetic susceptibility to autism with Chinese Han decent, supporting the defect in the Reelin signaling pathway as a predisposition factor for autism.
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27. Main PA, Thomas P, Esterman A, Fenech MF. {{Necrosis is increased in lymphoblastoid cell lines from children with autism compared with their non-autistic siblings under conditions of oxidative and nitrosative stress}}. {Mutagenesis};2013 (Jul);28(4):475-484.
Autism spectrum disorders are a heterogeneous group of neurodevelopmental conditions characterised by impairments in reciprocal social interaction, communication and stereotyped behaviours. As increased DNA damage events have been observed in a range of other neurological disorders, it was hypothesised that they would be elevated in lymphoblastoid cell lines (LCLs) obtained from children with autism compared with their non-autistic siblings. Six case-sibling pairs of LCLs from children with autistic disorder and their non-autistic siblings were obtained from the Autism Genetic Resource Exchange (AGRE) and cultured in standard RPMI-1640 tissue culture medium. Cells were exposed to medium containing either 0, 25, 50, 100 and 200 microM hydrogen peroxide (an oxidative stressor) or 0, 5, 10, 20 and 40 microM s-nitroprusside (a nitric oxide producer) for 1h. Following exposure, the cells were microscopically scored for DNA damage, cytostasis and cytotoxicity biomarkers as measured using the cytokinesis-block micronucleus cytome assay. Necrosis was significantly increased in cases relative to controls when exposed to oxidative and nitrosative stress (P = 0.001 and 0.01, respectively). Nuclear division index was significantly lower in LCLs from children with autistic disorder than their non-autistic siblings when exposed to hydrogen peroxide (P = 0.016), but there was no difference in apoptosis, micronucleus frequency, nucleoplasmic bridges or nuclear buds. Exposure to s-nitroprusside significantly increased the number of micronuclei in non-autistic siblings compared with cases (P = 0.003); however, other DNA damage biomarkers, apoptosis and nuclear division did not differ significantly between groups. The findings of this study show (i) that LCLs from children with autism are more sensitive to necrosis under conditions of oxidative and nitrosative stress than their non-autistic siblings and (ii) refutes the hypothesis that children with autistic disorder are abnormally susceptible to DNA damage.
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28. Mazefsky CA, Herrington J, Siegel M, Scarpa A, Maddox BB, Scahill L, White SW. {{The role of emotion regulation in autism spectrum disorder}}. {J Am Acad Child Adolesc Psychiatry};2013 (Jul);52(7):679-688.
OBJECTIVE: Autism spectrum disorder (ASD) is associated with amplified emotional responses and poor emotional control, but little is known about the underlying mechanisms. This article provides a conceptual and methodologic framework for understanding compromised emotion regulation (ER) in ASD. METHOD: After defining ER and related constructs, methods to study ER were reviewed with special consideration on how to apply these approaches to ASD. Against the backdrop of cognitive characteristics in ASD and existing ER theories, available research was examined to identify likely contributors to emotional dysregulation in ASD. RESULTS: Little is currently known about ER in youth with ASD. Some mechanisms that contribute to poor ER in ASD may be shared with other clinical populations (e.g., physiologic arousal, degree of negative and positive affect, alterations in the amygdala and prefrontal cortex), whereas other mechanisms may be more unique to ASD (e.g., differences in information processing/perception, cognitive factors [e.g., rigidity], less goal-directed behavior and more disorganized emotion in ASD). CONCLUSIONS: Although assignment of concomitant psychiatric diagnoses is warranted in some cases, poor ER may be inherent in ASD and may provide a more parsimonious conceptualization for the many associated socioemotional and behavioral problems in this population. Further study of ER in youth with ASD may identify meaningful subgroups of patients and lead to more effective individualized treatments.
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29. McDuffie A, Kover ST, Hagerman R, Abbeduto L. {{Investigating word learning in fragile x syndrome: a fast-mapping study}}. {J Autism Dev Disord};2013 (Jul);43(7):1676-1691.
Fast-mapping paradigms have not been used previously to examine the process of word learning in boys with fragile X syndrome (FXS), who are likely to have intellectual impairment, language delays, and symptoms of autism. In this study, a fast-mapping task was used to investigate associative word learning in 4- to 10-year-old boys with FXS relative to younger typically developing boys and age-matched boys with autism spectrum disorders (ASD). Task performance exceeded chance levels for all groups; however, boys with FXS outperformed boys with ASD, despite having lower levels of nonverbal cognition. Memory task demands significantly impacted performance only for boys with typical development. For boys with FXS or ASD, fast-mapping uniquely accounted for small but significant variance in concurrent levels of vocabulary comprehension as did chronological age and nonverbal IQ, but not autism severity. Understanding the fast-mapping process has implications for designing interventions to support word learning and language acquisition in these populations.
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30. Movsas TZ, Pinto-Martin JA, Whitaker AH, Feldman JF, Lorenz JM, Korzeniewski SJ, Levy SE, Paneth N. {{Autism spectrum disorder is associated with ventricular enlargement in a low birth weight population}}. {J Pediatr};2013 (Jul);163(1):73-78.
OBJECTIVE: To determine the relation of neonatal cranial ultrasound abnormalities to autism spectrum disorders (ASD) in low birth weight (LBW) adult survivors, a population at increased ASD risk. STUDY DESIGN: This is a secondary analysis of a prospectively-followed regional birth cohort of 1105 LBW infants systematically screened for perinatal brain injury with cranial ultrasound in the first week of life and later assessed for ASD using a two-stage process [screening at age 16 years (n = 623) followed by diagnostic assessment at age 21 years of a systematically selected subgroup of those screened (n = 189)]; 14 cases of ASD were identified. For this analysis, cranial ultrasound abnormalities were defined as ventricular enlargement (indicative of diffuse white matter injury), parenchymal lesions (indicative of focal white matter injury), and isolated germinal matrix/intraventricular hemorrhage. RESULTS: Compared with no cranial ultrasound abnormalities, any type of white matter injury (ventricular enlargement and/or parenchymal lesion) tripled the risk for screening positively for ASD [3.0 (2.2, 4.1)]. However, the risk of being diagnosed with ASD depended on type of white matter injury. With ventricular enlargement, the risk of ASD diagnosis was almost seven-fold that of no cranial ultrasound abnormality [6.7 (2.3, 19.7)], and no elevated risk was found for parenchymal lesion without ventricular enlargement [1.8 (0.2, 13.6)]. Isolated germinal matrix/intraventricular hemorrhage did not increase risk for a positive ASD screen or diagnosis. CONCLUSION: In LBW neonates, cranial ultrasound evidence of ventricular enlargement is a strong and significant risk factor for subsequent development of rigorously-diagnosed ASD.
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31. Nicolaidis C, Raymaker D. {{Healthcare experiences of autistic adults}}. {J Gen Intern Med};2013 (Jul);28(7):871.
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32. Pareja-Galeano H, Sanchis-Gomar F, Mayero S. {{Autism spectrum disorders: possible implications of BDNF modulation through epigenetics}}. {Acta Psychiatr Scand};2013 (Jul);128(1):97.
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33. Piton A, Jouan L, Rochefort D, Dobrzeniecka S, Lachapelle K, Dion PA, Gauthier J, Rouleau GA. {{Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals}}. {Eur J Hum Genet};2013 (Jul);21(7):749-756.
A large-scale sequencing screen of X-linked synaptic genes in individuals with autism spectrum disorder (ASD) or schizophrenia (SCZ), two common neurodevelopmental disorders, identified many variants most of which have no easily predictable effect on gene function. In this report, we evaluated the impact of these rare missense and silent variants on gene splicing. For this purpose, we used complementary in silico analyses, in vitro minigene-based assays and RNA prepared from lymphoblastoid cells derived from patients with these mutations. Our goal was to identify the variants which might either create or disrupt an acceptor splice site, a donor splice site or an exonic splicing enhancer, thus leading to aberrant splicing that could be involved in the pathogenesis of ASD or SCZ. We identified truncating mutations in distinct X-linked gamma-aminobutyric acid A (GABAA) receptor subunit-encoding genes, GABRQ and GABRA3, in two different families. Furthermore, missense and silent variants in nuclear RNA export factor 5 and histone deacetylase 6 were shown to partially disrupt the protein. While genes from the GABAergic pathway have previously been thought to be involved in the pathophysiology of ASD, this is the first report of ASD patients with truncating mutations in GABA receptors genes.
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34. Ronconi L, Gori S, Giora E, Ruffino M, Molteni M, Facoetti A. {{Deeper attentional masking by lateral objects in children with autism}}. {Brain Cogn};2013 (Jul);82(2):213-218.
Autism spectrum disorder (ASD) is often associated with a detail-oriented perception and overselective attention in visual tasks, such as visual search and crowding. These results were obtained manipulating exclusively the spatial properties of the stimuli: few is known about the spatio-temporal dynamics of visual processing in ASD. In this study we employed an attentional masking (AM) paradigm comparing children with ASD and IQ-matched typically developing (TD) controls. The AM effect refers to an impaired identification of a target followed by a competitive masking object at different proximities in space and time. We found that ASD and TD groups did not differ in the AM effect provoked by the competitive object displayed in the same position of the target. In contrast, children with ASD showed a deeper and prolonged interference than the TD group when the masking object was displayed in the lateral position. These psychophysical results suggest that the inefficient attentional selection in ASD depends on the spatio-temporal interaction between competitive visual objects. These evidence are discussed in the light of the ASD altered neural connectivity hypothesis and the reentrant theory of perception.
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35. Ross HE, Guo Y, Coleman K, Ousley O, Miller AH. {{Association of IL-12p70 and IL-6:IL-10 ratio with autism-related behaviors in 22q11.2 deletion syndrome: A preliminary report}}. {Brain Behav Immun};2013 (Jul);31:76-81.
22q11.2 deletion syndrome (22q11DS) is a genetic disorder that conveys a significant risk for the development of social behavior disorders, including autism and schizophrenia. Also known as DiGeorge syndrome, 22q11DS is the second most common genetic disorder and is characterized by an elevated risk for immune dysfunction, up to 77% of individuals have an identifiable immune deficiency. We hypothesize that this immune dysfunction could contribute to the elevated risk of impaired social behavior seen in 22q11DS. The current study begins to elucidate these immune deficits and link them with the behavioral alterations associated with the disorder. Serum concentrations of a series of cytokines were examined, using a multiplex immunoassay, in sixteen individuals with 22q11DS and screened for autism-related behavior using the Autism Diagnostic Interview-Revised (ADI-R). This preliminary study examined correlations between specific immune proteins and each of the ADI-R algorithm scores (social, communication, and repetitive behavior). The inflammatory cytokine IL-1beta, as well as the ratio between the inflammatory cytokine IL-6 and the anti-inflammatory cytokine IL-10, were correlated with social scores (r=0.851, p=0.004; r=0.580, p=0.018). In addition, the inflammatory cytokines interferon gamma and IL-12p70 were correlated with repetitive behaviors (r=0.795, p=0.033; r=0.774, p=0.002). Interestingly, IL-12 has been reported to be increased in autistic children. These data show a positive association between severity of autism-related behaviors and level of serum concentrations of inflammatory cytokines in individuals with 22q11DS, providing a basis for further inquiry.
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36. Rozga A, King TZ, Vuduc RW, Robins DL. {{Undifferentiated facial electromyography responses to dynamic, audio-visual emotion displays in individuals with autism spectrum disorders}}. {Dev Sci};2013 (Jul);16(4):499-514.
We examined facial electromyography (fEMG) activity to dynamic, audio-visual emotional displays in individuals with autism spectrum disorders (ASD) and typically developing (TD) individuals. Participants viewed clips of happy, angry, and fearful displays that contained both facial expression and affective prosody while surface electrodes measured corrugator supercilli and zygomaticus major facial muscle activity. Across measures of average and peak activity, the TD group demonstrated emotion-selective fEMG responding, with greater relative activation of the zygomatic to happy stimuli and greater relative activation of the corrugator to fearful stimuli. In contrast, the ASD group largely showed no significant differences between zygomatic and corrugator activity across these emotions. There were no group differences in the magnitude and timing of fEMG response in the muscle congruent to the stimuli. This evidence that fEMG responses in ASD are undifferentiated with respect to the valence of the stimulus is discussed in light of potential underlying neurobiological mechanisms.
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37. Seery AM, Vogel-Farley V, Tager-Flusberg H, Nelson CA. {{Atypical lateralization of ERP response to native and non-native speech in infants at risk for autism spectrum disorder}}. {Dev Cogn Neurosci};2013 (Jul);5:10-24.
Language impairment is common in autism spectrum disorders (ASD) and is often accompanied by atypical neural lateralization. However, it is unclear when in development language impairment or atypical lateralization first emerges. To address these questions, we recorded event-related-potentials (ERPs) to native and non-native speech contrasts longitudinally in infants at risk for ASD (HRA) over the first year of life to determine whether atypical lateralization is present as an endophenotype early in development and whether these infants show delay in a very basic precursor of language acquisition: phonemic perceptual narrowing. ERP response for the HRA group to a non-native speech contrast revealed a trajectory of perceptual narrowing similar to a group of low-risk controls (LRC), suggesting that phonemic perceptual narrowing does not appear to be delayed in these high-risk infants. In contrast there were significant group differences in the development of lateralized ERP response to speech: between 6 and 12 months the LRC group displayed a lateralized response to the speech sounds, while the HRA group failed to display this pattern. We suggest the possibility that atypical lateralization to speech may be an ASD endophenotype over the first year of life.
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38. Shorter E, Wachtel LE. {{Childhood catatonia, autism and psychosis past and present: is there an ‘iron triangle’?}}. {Acta Psychiatr Scand};2013 (Jul);128(1):21-33.
OBJECTIVE: To explore the possibility that autism, catatonia and psychoses in children are different manifestations of a single underlying form of brain pathology – a kind of ‘Iron Triangle’ of symptomatology – rather than three separate illnesses. METHOD: Systematic evaluation of historical case literature on autism to determine if catatonic and psychotic symptoms accompanied the diagnosis, as is found in some challenging present-day cases. RESULTS: It is clear from the historical literature that by the 1920s all three diagnoses in the Iron Triangle – catatonia, autism and childhood schizophrenia – were being routinely applied to children and adolescents. Furthermore, it is apparent that children diagnosed with one of these conditions often qualified for the other two as well. Although conventional thinking today regards these diagnoses as separate entities, the presence of catatonia in a variety of conditions is being increasingly recognized, and there is also growing evidence of connections between childhood-onset psychoses and autism. CONCLUSION: Recognition of a mixed form of catatonia, autism and psychosis has important implications for both diagnosis and treatment. None of the separate diagnoses provides an accurate picture in these complex cases, and when given single diagnoses such as ‘schizophrenia’, the standard treatment options may prove markedly ineffective.
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39. Siniscalco D, Antonucci N. {{Possible use of Trichuris suis ova in autism spectrum disorders therapy}}. {Med Hypotheses};2013 (Jul);81(1):1-4.
Autism and autism spectrum disorders (ASDs) are heterogeneous, severe neurodevelopmental pathologies. The main core symptoms are: dysfunctions in social interactions and communication skills, restricted interests, repetitive and stereotypic verbal and non-verbal behaviors. Several biochemical processes are associated with ASDs: oxidative stress; endoplasmic reticulum stress; decreased methylation capacity; limited production of glutathione; mitochondrial dysfunction; intestinal dysbiosis; increased toxic metal burden; immune dysregulation. Current available treatments for ASDs can be divided into behavioral, nutritional and medical approaches, although no defined standard approach exists. Current drugs fail to benefit the ASD core symptoms and can have marked adverse effects, are mainly palliative and only sometimes efficacy in attenuating specific autistic behaviors. Helminthic therapy shows potential for application as anti-inflammatory agent. Several human diseases can be treated by helminths (i.e. inflammatory bowel disease, asthma, multiple sclerosis and autoimmune diabetes). Trichuris suis ova (TSO) show strong immunomodulatory properties. Authors hypothesize that TSO could be useful in addressing ASD immune dysregulations. TSO could be a novel therapeutic option for ASD management.
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40. Steinman G. {{Predicting autism at birth}}. {Med Hypotheses};2013 (Jul);81(1):21-25.
The amounts of at least three biochemical factors are more often abnormal in autistic people than neurologically normal ones. They include insulin-like growth factor, anti-myelin basic protein, and serotonin. This may explain why processes initiated in utero which hinder normal neurogenesis, especially myelination, continue after delivery. Quantitation of these parameters may make possible the calculation of an autism index, anticipating at birth which children will ultimately develop overt autism.
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41. Turan F, Okcun Akcamus MC. {{[An Investigation of the Imitation Skills in Children with Autism Spectrum Disorder and their Association with Receptive-Expressive Language Development]}}. {Turk Psikiyatri Derg};2013 (Summer);24(2):111-116.
AIMS: This study aimed to compare imitation skills in children with autism spectrum disorder, and age-matched typically developing children and children with developmental delay, as well as to examine the association between imitation skills, and receptive and expressive language development in children with autism spectrum disorder. MATERIALS AND METHODS: Imitation skills in children with autism spectrum disorder (n=18), and age-matched children with developmental delay (n=15) and typically developing children (n= 16) were assessed using the Motor Imitation Scale and Imitation Battery, and the differences in mean imitation scores between the groups were examined. Receptive language and expressive language development in the children with autism spectrum disorder were assessed using the Turkish Communicative Development Inventory (TCDI), and their association with imitation scores was explored. RESULTS: The children with autism spectrum disorder had significantly lower imitation scores than the children with developmental delay and typically developing children; however, there wasn’t a significant difference in imitation scores between the children with developmental delay and typically developing children. A significant association between imitation scores, and receptive and expressive language development was observed in the children with autism spectrum disorder. CONCLUSION: The present findings indicate that deficient imitation skills are a distinctive feature of children with autism spectrum disorder and that imitation skills play a crucial role in children’s language development.
42. van der Ven E, Termorshuizen F, Laan W, Breetvelt EJ, van Os J, Selten JP. {{An incidence study of diagnosed autism-spectrum disorders among immigrants to the Netherlands}}. {Acta Psychiatr Scand};2013 (Jul);128(1):54-60.
OBJECTIVE: To estimate the risk of developing autism-spectrum disorder (ASD) in children born to immigrants as compared with children of Dutch-born parents. METHOD: Retrospective, population-based cohort study of all live births (n = 106 953) between 1998 and 2007 in a circumscribed geographical region in the Netherlands. Cohort members were linked to the Psychiatric Case Register to identify diagnosed cases. RESULTS: A total of 518 cases of ASD were identified, including 150 children with autism and 368 children with Asperger syndrome or Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS). Children born to migrants from developing countries were at significantly lower risk of ASD [rate ratio (RR) = 0.6, 95% confidence interval (CI) 0.5-0.9] than children of Dutch-born parents. Within the ASD group, the risk for the subgroup with Asperger syndrome and PDD-NOS was reduced (RR = 0.4, 95% CI 0.3-0.6), whereas that for narrowly defined autism was non-significantly increased (RR = 1.4, 95% CI 0.9-2.4). Migrant groups did not differ in age at diagnosis. CONCLUSION: The results echo Swedish findings indicating a reversal of risk gradient in children of parents from developing countries, specifically a decreased risk for high-functioning and increased risk for low-functioning autism.
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43. Van Lierde A, Menni F, Bedeschi MF, Natacci F, Guez S, Vizziello P, Costantino MA, Lalatta F, Esposito S. {{Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams-beuren syndrome}}. {Am J Med Genet A};2013 (Jul);161(7):1666-1674.
There are between 5,000 and 8,000 distinct rare diseases (RDs) affecting 6-8% of the population, most of which are caused by genetic defects. Many are highly complex, childhood-onset, multi-system disorders that are often associated with developmental disability, and require lifelong, highly specialized care and support. As larger numbers of children with previously fatal RDs survive into adulthood, they encounter significant challenges in transitioning from family-centered, developmentally focused, multidisciplinary pediatric care to a less supportive adult healthcare system that is often unfamiliar with these conditions. This paper discusses the challenges of the transition from pediatric to adult health care in two groups of patients with multisystem genetic RDs (neurofibromatosis 1 [NF1] and Williams-Beuren syndrome [WBS]), and analyzes strategies for making the process easier for patients with and without developmental disabilities. Our findings show that there are still no guidelines in national healthcare programs on how to transition RD adolescents with and without developmental disabilities, and only a few pediatric centers have implemented the elements of transition in their general practice. Evidence regarding programs to facilitate transition is inconclusive and the transition from pediatric medicine to adult medicine for RDs remains a major challenge. However, transition requires both time and personnel, which are difficult to find in periods of fiscal austerity. Nevertheless, we should strongly advocate for governments investing more into transition infrastructure or they will face increased long-term social and economic costs due to poor treatment compliance, disengagement from services, increased genetic risks, and higher rates of disease-related complications. (c) 2013 Wiley Periodicals, Inc.
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44. Wan MW, Green J, Elsabbagh M, Johnson M, Charman T, Plummer F. {{Quality of interaction between at-risk infants and caregiver at 12-15 months is associated with 3-year autism outcome}}. {J Child Psychol Psychiatry};2013 (Jul);54(7):763-771.
Background: Recent models of the early emergence of autism spectrum disorder (ASD) propose that infant intrinsic risk susceptibilities in behaviour may be amplified by interaction within the early social environment into an increasingly atypical developmental trajectory. This study examines whether 6- and 12-month parent-infant interactions in at-risk siblings differ from those with low-risk and whether – in at-risk siblings – such interactions predict later 3-year classification of ASD or no ASD. Method: Within the British Autism Study of Infant Siblings (BASIS), 6-min videotaped episodes of parent-infant free play in infants at 6-10 months (45 at-risk siblings and 47 low-risk siblings) and 12-15 months (43 at-risk siblings and 48 low-risk siblings) in a laboratory setting were rated on the Manchester Assessment of Caregiver-Infant Interaction (MACI), blind to participant information. Standard tests were administered for concurrent behavioural signs of ASD features and developmental level. Systematic consensus diagnostic classification of ASD was made at 3 years for the at-risk siblings. Results: Parent nondirectiveness and sensitive responsiveness differed in relation to ASD/risk status (at-risk ASD, at-risk no-ASD and low-risk) at both 6 and 12 months. At 6 months, infant liveliness was lower in the at-risk groups; at 12 months, infant attentiveness to parent and positive affect were lower in the at-risk group later diagnosed with ASD. Dyadic mutuality and intensity of engagement showed a group effect at 12 months. Dyadic mutuality, infant positive affect and infant attentiveness to parent at 12 months (but not 6 months) predicted 3-year ASD outcome, whereas infant ASD-related behavioural atypicality did not. Conclusions: This is the first prospective evidence that early dyadic interaction between at-risk infants and their parents is associated with later diagnostic outcome in ASD. Possible explanations for these findings and their theoretical implications are considered.
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45. Wang SY, Parrila R, Cui Y. {{Meta-Analysis of Social Skills Interventions of Single-Case Research for Individuals with Autism Spectrum Disorders: Results from Three-Level HLM}}. {J Autism Dev Disord};2013 (Jul);43(7):1701-1716.
This meta-analysis used hierarchical linear modeling to examine 115 single-case studies with 343 participants that examined the effectiveness of social skills interventions for individuals with autism spectrum disorder (ASD). The average effect size of the included studies was 1.40 (SD = 0.43, 95 % CL = 1.32-1.48, N = 115). In the further, several common predictors including intervention length, age and gender of the participants, and study quality indicators (provision of sufficient, in-depth, and replicable information of participants, settings/materials, independent variables, and dependent variables) were not found to mediate the intervention effectiveness. Only research design that the study employed was found to impact the intervention effectiveness; the studies using multiple baseline or reversal design had larger effect sizes than studies using other designs. Implications of the results and limitations of this study are discussed.
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46. Williams D, Boucher J, Lind S, Jarrold C. {{Time-based and event-based prospective memory in autism spectrum disorder: the roles of executive function and theory of mind, and time-estimation}}. {J Autism Dev Disord};2013 (Jul);43(7):1555-1567.
Prospective memory (remembering to carry out an action in the future) has been studied relatively little in ASD. We explored time-based (carry out an action at a pre-specified time) and event-based (carry out an action upon the occurrence of a pre-specified event) prospective memory, as well as possible cognitive correlates, among 21 intellectually high-functioning children with ASD, and 21 age- and IQ-matched neurotypical comparison children. We found impaired time-based, but undiminished event-based, prospective memory among children with ASD. In the ASD group, time-based prospective memory performance was associated significantly with diminished theory of mind, but not with diminished cognitive flexibility. There was no evidence that time-estimation ability contributed to time-based prospective memory impairment in ASD.
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47. Wolff JJ, Hupp SC, Symons FJ. {{Brief report: avoidance extinction as treatment for compulsive and ritual behavior in autism}}. {J Autism Dev Disord};2013 (Jul);43(7):1741-1746.
Treatment options for maladaptive repetitive behaviors associated with autism are limited. This is particularly so for ritual and compulsive forms of repetitive behavior, which commonly interfere with adaptive activities and may cause distress to individuals with autism and their families. The present study assessed an avoidance extinction approach to treatment of frequent, idiosyncratic ritual and compulsive behaviors among a small clinical sample (n = 3) of adults with autism and intellectual disability. Single case experimental design results indicate that intervention achieved extinction for 2 of the 3 participants, with the third showing a marked decrease in target behavior. A distinct extinction pattern consistent with functionally avoidant behavior was noted for the two participants who best responded to treatment.
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48. Wolff JJ, Symons FJ. {{An evaluation of multi-component exposure treatment of needle phobia in an adult with autism and intellectual disability}}. {J Appl Res Intellect Disabil};2013 (Jul);26(4):344-348.
BACKGROUND: Fear of medical procedures in general and needles in particular can be a difficult clinical challenge to providing effective health care for individuals with intellectual and developmental disabilities. METHODS: A changing criterion design was used to examine graduated exposure treatment for blood-injury-injection phobia in an adult male with autism and intellectual disability and a history of medical noncompliance. The additional contributions of differential reinforcement and a safety signal were also evaluated during treatment. RESULTS: Compliance with needle-to-skin contact was achieved by the final criterion phase, and the behavior was maintained on follow-up. Differential reinforcement and a safety signal added to the quality of treatment but were successfully faded as treatment progressed. CONCLUSIONS: An exposure approach was effective in reducing phobic behavior and may be flexible enough to accommodate component changes and leaner reinforcement schedules applicable to real-world settings.
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49. Woodruff BK. {{Healthcare experiences of autistic adults}}. {J Gen Intern Med};2013 (Jul);28(7):870.
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50. Zuo L, Wang K, Zhang XY, Pan X, Wang G, Tan Y, Zhong C, Krystal JH, State M, Zhang H, Luo X. {{Association between common alcohol dehydrogenase gene (ADH) variants and schizophrenia and autism}}. {Hum Genet};2013 (Jul);132(7):735-743.
Humans express at least seven alcohol dehydrogenase (ADH) isoforms that are encoded by ADH gene cluster (ADH7-ADH1C-ADH1B-ADH1A-ADH6-ADH4-ADH5) at chromosome 4. ADHs are key catabolic enzymes for retinol and ethanol. The functional ADH variants (mostly rare) have been implicated in alcoholism risk. In addition to catalyzing the oxidation of retinol and ethanol, ADHs may be involved in the metabolic pathways of several neurotransmitters that are implicated in the neurobiology of neuropsychiatric disorders. In the present study, we comprehensively examined the associations between common ADH variants [minor allele frequency (MAF) >0.05] and 11 neuropsychiatric and neurological disorders. A total of 50,063 subjects in 25 independent cohorts were analyzed. The entire ADH gene cluster was imputed across these 25 cohorts using the same reference panels. Association analyses were conducted, adjusting for multiple comparisons. We found 28 and 15 single nucleotide polymorphisms (SNPs), respectively, that were significantly associated with schizophrenia in African-Americans and autism in European-Americans after correction by false discovery rate (FDR) (q < 0.05); and 19 and 6 SNPs, respectively, that were significantly associated with these two disorders after region-wide correction by SNPSpD (8.9 x 10(-5) </= p </= 0.0003 and 2.4 x 10(-5) </= p </= 0.0003, respectively). No variants were significantly associated with the other nine neuropsychiatric disorders, including alcohol dependence. We concluded that common ADH variants conferred risk for both schizophrenia in African-Americans and autism in European-Americans.
