1. Baker JK, Seltzer MM, Greenberg JS. {{Behaviour problems, maternal internalising symptoms and family relations in families of adolescents and adults with fragile X syndrome}}. {J Intellect Disabil Res};2012 (Jun 8)
Background Studies have linked the behaviour problems of children with fragile X syndrome (FXS) to maternal well-being, but less is known about how behaviour problems relate to important family factors such as marital satisfaction and family cohesion. Methods Married mothers of 115 adolescents and adults with FXS completed questionnaires and interviews, and maternal CGG repeat length was obtained by medical/laboratory records or by blood analysis. Results Indirect effects were present between behaviour problems and family variables in that behaviour problems were positively related to maternal internalising symptoms which were, in turn, negatively associated with both family cohesion and marital satisfaction. Direct associations between behaviour problems and family relationship variables were not significant. Conclusions Findings suggest the importance of intervening with behaviour problems in individuals with FXS and identify maternal mental health as a potentially powerful conduit for the effects of child behaviour on relationships within these families. Implications for targeted interventions are discussed.
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2. Beurkens NM, Hobson JA, Hobson RP. {{Autism Severity and Qualities of Parent-Child Relations}}. {J Autism Dev Disord};2012 (Jun 7)
The aim of this study was to examine how severity of autism affects children’s interactions (relatedness) and relationships with their parents. Participants were 25 parent-child dyads that included offspring who were children with autism aged from 4 to 14 years. The severity of the children’s autism was assessed using the calibrated severity metric of the Autism Diagnostic Observation Schedule (Gotham et al. in J Autism Dev Disord 39:693-705, 2009). Parent-child dyads were videotaped in 10-min semi-structured play interactions, and qualities of interpersonal relatedness were rated with the Dyadic Coding Scales (Humber and Moss in Am J Orthopsychiatr 75(1):128-141, 2005). Quality of relationships between parents and children were evaluated with a parent self-report measure, the Parent Child Relationship Inventory (Gerard in Parent-Child Relationship Inventory (PCRI) manual. WPS, Los Angeles, 1994). Multivariate regression analysis revealed that severity of autism was inversely related to patterns of parent-child interaction but not to reported quality of parent-child relationship. We consider the implications for thinking about relatedness and relationships among children with autism, and opportunities for intervention.
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3. Bisagni F. {{Delusional development in child autism at the onset of puberty: vicissitudes of psychic dimensionality between disintegration and development}}. {Int J Psychoanal};2012 (Jun);93(3):423-448.
Although the psychogenetic hypotheses on child autism have been superseded, psychoanalysis can still reflect on the relational exchange and its sensory aspects in concomitance with the mental development of these patients. Without making generalizations as regards the pathogenesis, but considering the specific features of each autistic child, it may be possible to achieve an integration of those islands of competence that make up these patients’ limited personal heritage. Such integration may be reached through the analysis of representational, emotional and relational transformations. The first part of this article describes the case of an autistic child in treatment from the age of four on a four-times-weekly basis who, during puberty, developed severe formal thought disorders together with delusional and hallucinatory formations. The second part develops some post-Jungian theoretical contributions, such as the concept of self as nothingness and the idea of the unsaturated archetype, so as to evaluate the function of some a-priori concepts in support of the analyst’s position. These concepts are considered in relation to Bion’s model of transformation, and to the formulations on dimensional awareness, especially on the shift from a two-dimensionality to three-dimensionality view, as well as to the rhythm of the object’s presence and absence.
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4. Castro S, Pinto AI. {{Identification of core functioning features for assessment and intervention in Autism Spectrum Disorders}}. {Disabil Rehabil};2012 (Jun 7)
Purpose: Framed within a biopsychosocial approach, this study aimed to identify the main functionality dimensions that experts in the field of child development and child psychopathology considered as essential in the assessment-intervention process with young children with Autism Spectrum Disorders (ASD), using the International Classification of Functionality, Disability and Health for Children and Youth. Method: The Delphi method was used to obtain consensus among experts regarding the essential functionality features for the rehabilitation of young children with ASD. Therefore, web-based three-round survey was developed. Results: There are more functionality features identified as more essential for the age group 3-6 than from the group birth-2 years of age. 49.4% of activities and participation dimensions were regarded as essential by experts, while only 13.9% of body functions were selected. 39.9% of environmental factors were also marked by experts as essential. Conclusions: Pervasive Developmental Disorders (PDD) are classified in diagnostic manuals-DSM-IV-TR and ICD-10. These classifications are valuable to detect signs/symptoms of health conditions; however, they are often not sufficient to develop individualized interventions. More functional information is needed to complement diagnostic data. The identified functionality dimensions of the ICF-CY complement diagnosis by differentiating relevant functioning aspects in all life domains, according to the biopsychosocial model and should always be addressed in the process of rehabilitation of young children with ASD. [Box: see text].
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5. Clifford T, Minnes P. {{Who Participates in Support Groups for Parents of Children with Autism Spectrum Disorders? The Role of Beliefs and Coping Style}}. {J Autism Dev Disord};2012 (Jun 7)
One hundred forty-nine parents of children with autism spectrum disorders (ASD) completed online questionnaires measuring their beliefs about support groups and ASD, coping style, social support, mood, and use of support groups. Those currently using parent support groups (PSGs) reported using more adaptive coping strategies than both parents who had never used PSGs and parents who had used PSGs in the past. Past PSG users reported that they did not find the groups as beneficial as current users, and parents who had never participated in PSGs reported difficulties with the accessibility of PSGs. Based on the current results, interventions for parents of children with ASD that are focused on meeting the needs identified by participating parents may be most effective.
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6. Davis NO, Kollins SH. {{Treatment for Co-Occurring Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder}}. {Neurotherapeutics};2012 (Jun 8)
Interest in the co-occurrence of attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) has grown in the last decade. Research on clinical populations supports the frequent co-occurrence of ADHD traits (e.g., hyperactivity) in individuals with ASD and ASD traits (e.g., social communication deficits) in individuals with ADHD. Similar trends in co-occurring traits have been observed in population-based samples, as well as family and genetic studies of affected individuals. Despite increased interest in co-occurring ADHD and ASD, relatively little research has been devoted to treatment considerations. The vast majority of intervention research has examined pharmacological treatment using traditional ADHD medications. Relatively few psychosocial interventions have directly addressed co-occurring symptoms. Treatment development will benefit from enhanced understanding of the phenomenon of co-occurring ADHD and ASD. Key topics for future research include examining developmental trajectories of co-occurring disorders, comorbid psychiatric conditions, deficits in social skills, and the nature of executive functioning impairment in individuals with co-occurring ADHD and ASD. In the current review, research in these areas is reviewed along with recommendation for future study. Given that clinicians are routinely observing and treating individuals with co-occurring symptoms, further research will yield needed information to inform intervention development and maximize benefits for affected individuals.
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7. Deth RC. {{Genomics, intellectual disability, and autism}}. {N Engl J Med};2012 (Jun 7);366(23):2231-2232; author reply 2232.
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8. Gibbs V, Aldridge F, Chandler F, Witzlsperger E, Smith K. {{Brief Report: An Exploratory Study Comparing Diagnostic Outcomes for Autism Spectrum Disorders Under DSM-IV-TR with the Proposed DSM-5 Revision}}. {J Autism Dev Disord};2012 (Jun 8)
The proposed revision for Autism spectrum disorders (ASDs) in the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5) represents a shift from the Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition, Text Revision (DSM-IV-TR). As the proposed DSM-5 criteria require a higher minimum number of symptoms to be present compared to DSM-IV-TR, there have been some concerns about the impact that this will have on diagnostic outcomes. Therefore, the current study aimed to compare diagnostic outcomes using both DSM-IV-TR and DSM-5 criteria for 132 children. Of the 111 participants who received an ASD diagnosis under DSM-IV-TR, 26 did not meet DSM-5 criteria. The majority of these had received a DSM-IV-TR PDD-NOS diagnosis. Implications of the results and the proposed DSM-5 changes to the ASD criteria are discussed.
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9. Grossi D, Marcone R, Cinquegrana T, Gallucci M. {{On the differential nature of induced and incidental echolalia in autism}}. {J Intellect Disabil Res};2012 (Jun 8)
Background Echolalia is a verbal disorder, defined as ‘a meaningless repetition of the words of others’. It is pathological, automatic and non-intentional behaviour, often observed in a variety of neurological and psychiatric disorders and above all in autism. We assume that echolalia is an imitative behaviour that is due to difficulties in inhibiting automatic repetition as seen in patients with frontal lobe damage. Our aim is to study the occurrence of echolalia under experimental conditions to investigate the nature of the phenomenon and its relationship with the severity of autism. Methods Eighteen participants with autism from 17 to 36 years old were recruited; they were administrated the Vineland scale, the Observational Rating Scale of Basic Functions and the Echolalia Questionnaire. In the Echolalia Questionnaire, questions were directly addressed to the autistic subject (induced procedure) or to the subject’s caregiver while the subject was free to do what he wanted (incidental procedure). The data were analysed by multivariate regressions and Pearson’s correlations. Results The results showed that echolalia occurred in both experimental situations; the mean value was significantly higher in the induced procedure, but results did not support the correlation with Vineland’s score in the incidental procedure. It is likely that the two situations activated different processes. In particular, echolalia was statistically higher in the induced procedure as compared with the incidental one only for subjects with low score on Vineland, but in the incidental procedure, the presence of echolalia appeared to be uninfluenced by the functional capacity of subjects. Conclusions The two experimental conditions require different monitoring systems to control this verbal behaviour. The echolalic phenomenon is an expression of dependence on the environment and may occur in a situation in which the autistic person is participating in a communicative act and, lacking inhibitory control, repeats the other’s communication rather than selecting an answer. The deficit in inhibitory control in this situation does not seem to be present in subjects with higher efficiency. Incidental echolalia reflects the inability of the subject to filter out background environmental noise, which occasionally results in environmental dependency.
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10. Honekopp J. {{Digit Ratio 2D:4D in Relation to Autism Spectrum Disorders, Empathizing, and Systemizing: A Quantitative Review}}. {Autism Res};2012 (Jun 1)
Prenatal testosterone (PT) effects have been proposed to increase systemizing (the drive to understand lawful input-output relationships), to decrease empathizing (the drive to understand others), and to cause autism via hypermasculinization of the brain. Digit ratio 2D:4D is a putative marker of PT effects in humans. An online study (n = 1896) into the relationship between the Reading the Mind in the Eyes Test (a widely used measure of empathizing) and self-measured 2D:4D in a nonclinical sample is reported. No evidence for a link between empathizing and 2D:4D in either females or males emerged. Further, three meta-analyses are presented that look into the relationships of 2D:4D with autism spectrum disorder (ASD), systemizing, and empathizing. 2D:4D was substantially lower (more masculine) in ASD-affected individuals than in normal controls (d = -0.58, P < 0.001). However, 2D:4D was found to be virtually unrelated to systemizing and empathizing in normal adults. The results support the idea that high PT is a risk factor for autism, but they challenge the view that PT substantially contributes to sex differences in systemizing and empathizing. Possibly, this pattern reflects an interaction effect, whereby PT drives ASD characteristic changes only in brains with a specific damage. Autism Res 2012, **: **-**. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc.
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11. Ionita-Laza I, Makarov V, Buxbaum JD. {{Scan-Statistic Approach Identifies Clusters of Rare Disease Variants in LRP2, a Gene Linked and Associated with Autism Spectrum Disorders, in Three Datasets}}. {Am J Hum Genet};2012 (Jun 8);90(6):1002-1013.
Cluster-detection approaches, commonly used in epidemiology and astronomy, can be applied in the context of genetic sequence data for the identification of genetic regions significantly enriched with rare disease-risk variants (DRVs). Unlike existing association tests for sequence data, the goal of cluster-detection methods is to localize significant disease mutation clusters within a gene or region of interest. Here, we focus on a chromosome 2q replicated linkage region that is associated with autism spectrum disorder (ASD) and that has been sequenced in three independent datasets. We found that variants in one gene, LRP2, residing on 2q are associated with ASD in two datasets (the combined variable-threshold-test p value is 1.2 x 10(-5)). Using a cluster-detection method, we show that in the discovery and replication datasets, variants associated with ASD cluster preponderantly in 25 kb windows (adjusted p values are p(1) = 0.003 and p(2) = 0.002), and the two windows are highly overlapping. Furthermore, for the third dataset, a 25 kb region similar to those in the other two datasets shows significant evidence of enrichment of rare DRVs. The region implicated by all three studies is involved in ligand binding, suggesting that subtle alterations in either LRP2 expression or LRP2 primary sequence modulate the uptake of LRP2 ligands. BMP4 is a ligand of particular interest given its role in forebrain development, and modest changes in BMP4 binding, which binds to LRP2 near the mutation cluster, might subtly affect development and could lead to autism-associated phenotypes.
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12. Key AP, Stone WL. {{Same but Different: 9-Month-Old Infants at Average and High Risk for Autism Look at the Same Facial Features but Process Them Using Different Brain Mechanisms}}. {Autism Res};2012 (Jun 1)
The study examined whether 9-month-old infants at average vs. high risk for autism spectrum disorder (ASD) process facial features (eyes, mouth) differently and whether such differences are related to infants’ social and communicative skills. Eye tracking and visual event-related potentials (ERPs) were recorded in 35 infants (20 average-risk typical infants, 15 high-risk siblings of children with ASD) while they viewed photographs of a smiling unfamiliar female face. On 30% of the trials, the eyes or the mouth of that face was replaced with corresponding features from a different female. There were no group differences in the number, duration, or distribution of fixations, and all infants looked at the eyes and mouth regions equally. However, increased attention to the mouth was associated with weaker receptive communication skills and increased attention to the eyes correlated with better interpersonal skills. ERP results revealed that all infants detected eye and mouth changes but did so using different brain mechanisms. Changes in facial features were associated with changes in activity of the face perception mechanisms (N290) for the average-risk group but not for the high-risk infants. For all infants, correlations between ERP and eye-tracking measures indicated that larger and faster ERPs to feature changes were associated with fewer fixations on the irrelevant regions of stimuli. The size and latency of the ERP responses also correlated with parental reports of receptive and expressive communication skills, suggesting that differences in brain processing of human faces are associated with individual differences in social-communicative behaviors. Autism Res 2012, **: **-**. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc.
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13. Shokouhi M, Williams JH, Waiter GD, Condon B. {{Changes in the Sulcal Size Associated With Autism Spectrum Disorder Revealed by Sulcal Morphometry}}. {Autism Res};2012 (Jun 1)
Autism spectrum disorder (ASD) is a complex, neurodevelopmental disorder with various structural abnormalities for different patient groups. Because of the heterogeneity of the disorder, several biomarkers have been suggested so far. Here, we explore the potential of sulcal surface and length as biomarkers. Three-dimensional T1-weighted images of 15 adolescents of normal intelligence with ASD and 15 age-, sex-, and intelligence quotient-matched control adolescents were analysed using Brainvisa 4.0 (http://www.brainvisa.info), which automatically extracts the cortical folds and labels them as 59 sulcal pieces. For each sulcus, the surface, length, and mean geodesic depth were computed using morphometry analysis within this software package. General linear model was conducted to compare the estimated values for the two groups, ASD and control. In the ASD group, the left insula and the right intraparietal sulcus (IPS) had significantly higher values for surface and length, respectively. Nonetheless for all sulcal pieces, the mean geodesic depth was not significantly different between the two groups. Our results suggest that sulcal surface and length can have correlation with morphological changes of cortex in ASD. Greater surface area and length in insula and IPS, respectively, may reflect greater folding. This could result in greater separation of functions with an impact upon the integrative functions of these regions. Autism Res 2012, **: **-**. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc.
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14. Sterling A, Abbeduto L. {{Language development in school-age girls with fragile X syndrome}}. {J Intellect Disabil Res};2012 (Jun 8)
Background Girls with fragile X syndrome (FXS) have a wide range of cognitive and language abilities. The range of language outcomes experienced by girls with FXS, however, has been relatively unexplored. The purpose of this exploratory study was to examine receptive and expressive language, with a focus on vocabulary and syntax, in a group of school-age girls with FXS. Method Twenty-one girls with FXS aged 7-15 years participated in the study. The girls completed a receptive vocabulary test, non-verbal IQ test and an expressive language sample. Results The mean IQ for this group of girls was at the cut-off for intellectual disability. Vocabulary was an area of strength relative to non-verbal cognition. Age and non-verbal IQ were significant predictors of vocabulary performance. Conclusions The data suggest that a substantial portion of the sample would qualify for speech and language services. This study highlights the need for continued research in the area of language and cognitive development in girls with the full mutation of fragile X.
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15. von dem Hagen EA, Stoyanova RS, Baron-Cohen S, Calder AJ. {{Reduced functional connectivity within and between ‘social’ resting state networks in autism spectrum conditions}}. {Soc Cogn Affect Neurosci};2012 (Jun 8)
Individuals with Autism Spectrum Conditions (ASC) have difficulties in social interaction and communication, which is reflected in hypoactivation of brain regions engaged in social processing, such as medial prefrontal cortex (mPFC), amygdala and insula. Resting state studies in ASC have identified reduced connectivity of the default mode network (DMN), which includes mPFC, suggesting that other resting state networks incorporating ‘social’ brain regions may also be abnormal. Using Seed-based Connectivity and Group Independent Component Analysis (ICA) approaches, we looked at resting functional connectivity in ASC between specific ‘social’ brain regions, as well as within and between whole networks incorporating these regions. We found reduced functional connectivity within the DMN in individuals with ASC, using both ICA and seed-based approaches. Two further networks identified by ICA, the salience network, incorporating the insula and a medial temporal lobe network, incorporating the amygdala, showed reduced inter-network connectivity. This was underlined by reduced seed-based connectivity between the insula and amygdala. The results demonstrate significantly reduced functional connectivity within and between resting state networks incorporating ‘social’ brain regions. This reduced connectivity may result in difficulties in communication and integration of information across these networks, which could contribute to the impaired processing of social signals in ASC.
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16. Westphal A, Schelinski S, Volkmar F, Pelphrey K. {{Revisiting Regression in Autism: Heller’s Dementia Infantilis : Includes A Translation of Uber Dementia Infantilis}}. {J Autism Dev Disord};2012 (Jun 8)
Theodor Heller first described a severe regression of adaptive function in normally developing children, something he termed dementia infantilis, over one 100 years ago. Dementia infantilis is most closely related to the modern diagnosis, childhood disintegrative disorder. We translate Heller’s paper, Uber Dementia Infantilis, and discuss similarities in presentation between Heller’s cases, and a group of children with childhood disintegrative disorder. In particular we discuss a prodromal period of affective dysregulation described by Heller, and also evident in our sample, but not previously described in any detail since the publication of Uber Dementia Infantilis.
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17. Williams SC. {{Drugs targeting mGluR5 receptor offer ‘fragile’ hope for autism}}. {Nat Med};2012;18(6):840.
