1. Bonnet-Brilhault F. {{[Genotype/phenotype correlation in autism: Genetic models and phenotypic characterization.]}}. {Encephale};2011 (Feb);37(1):68-74.
BACKGROUND: Autism spectrum disorders are a class of conditions categorized by communication problems, ritualistic behaviors, and deficits in social behaviors. This class of disorders merges a heterogeneous group of neurodevelopmental disorders regarding some phenotypic and probably physiopathological aspects. Genetic basis is well admitted, however, considering phenotypic and genotypic heterogeneity, correspondences between genotype and phenotype have yet to be established. LITERATURE FINDINGS: To better identify such correspondences, genetic models have to be identified and phenotypic markers have to be characterized. Recent insights show that a variety of genetic mechanisms may be involved in autism spectrum disorders, i.e. single gene disorders, copy number variations and polygenic mechanisms. These current genetic models are described. Regarding clinical aspects, several approaches can be used in genetic studies. Nosographical approach, especially with the concept of autism spectrum disorders, merges a large group of disorders with clinical heterogeneity and may fail to identify clear genotype/phenotype correlations. Dimensional approach referred in genetic studies to the notion of « Broad Autism Phenotype » related to a constellation of language, personality, and social-behavioral features present in relatives that mirror the symptom domains of autism, but are much milder in expression. Studies of this broad autism phenotype may provide a potentially important complementary approach for detecting the genes involved in these domains. However, control population used in those studies need to be well characterized too. Identification of endophenotypes seems to offer more promising results. Endophenotypes, which are supposed to be more proximal markers of gene action in the same biological pathway, linking genes and complex clinical symptoms, are thought to be less genetically complex than the broader disease phenotype, indexing a limited aspect of genetic risk for the disorder as a whole. However, strategies useful to characterize such phenotypic markers (for example, electrophysiological markers) have to take into account that autism is an early neurodevelopmental disorder occurring during childhood when brain development and maturation are in process. CONCLUSION: Recent genetic results have improved our knowledge in genetic basis in autism. Nevertheless, correspondences with phenotypic markers remain challenging according to phenotypic and genotypic heterogeneity.
2. Kushki A, Chau T, Anagnostou E. {{Handwriting Difficulties in Children with Autism Spectrum Disorders: A Scoping Review}}. {J Autism Dev Disord};2011 (Feb 25)
Functional handwriting involves complex interactions among physical, cognitive and sensory systems. Impairments in many aspects of these systems are associated with Autism spectrum disorders (ASD), suggesting a heightened risk of handwriting difficulties in children with ASD. This scoping review aimed to: (1) survey the existing evidence about potential contributions to compromised handwriting function in children with ASD, and (2) map out the existing studies documenting handwriting difficulties in children with ASD. The current evidence implicates impairments in fine motor control and visual-motor integration as likely contributors to handwriting difficulties in children with ASD, though the role of the latter is not well-understood. Moreover, diminished overall legibility and compromised letter formation are emerging points of convergence among existing studies of handwriting quality in children with ASD.
3. Planche P, Lemonnier E. {{[Does the islet of ability on visuospatial tasks in children with high-functioning autism really indicate a deficit in global processing?]}}. {Encephale};2011 (Feb);37(1):10-17.
OBJECTIVE: The literature on autism reports regularly the presence of a peak of ability on the visuospatial tasks. The classic interpretation of this result refers to the theoretical model proposed by Frith (1989) who evokes a « lack of central coherence » in persons with autism that is a deficit in the mobilization of global processing. The research reported here has for objective to propose a reflection on the relevance of this model by asking the following question: is global processing impaired in autism or simply not mobilized for the benefit of the almost exclusive appeal to local treatment? METHODS: A group of children with high-functioning autism was compared with normally developping children (n=15 per group), matched on age and global level of intelligence. The clinical group, 14 boys and a girl, had received a diagnosis of typical autism according to the criteria of the ICD-10 (F84.0) confirmed by ADI-R. These children all used a functional language at the time of inclusion within the study, however all of them initially presented a delay in language (mean age: 8 years and 6 months; mean total IQ: 98.07). The typically developping group, 12 boys and three girls, were from ordinary school (mean age: 9 years, mean total IQ: 106.2). Two tasks were employed for the collection of data: the Wechsler Intelligence Scale for Children-Third Edition (WISC-III) was used to estimate the total-, verbal- and performance-IQ scores of every child and to match both groups. It also permitted the evaluation and comparison of the performances of the children on the following visuospatial tasks: « picture completion », « object assembly » and « block design ». The NEPSY scale permitted the estimation and comparison of the levels of performance of both groups on visuospatial functions. RESULTS: In terms of scores, the tasks of the WISC-III, requiring visiospatial processing as well as the global evaluation of the visiospatial functions with the NEPSY, showed the absence of significant differences between children with high-functioning autism and typical children of the same age. However, differences of strategies appeared both between the groups and, in children with autism, according to the tasks to resolve. The comparison of subtests, « arrows » and « picture completion » on one hand, and « object assembly » and « block design » on the other, showed that children with autism are capable of mobilizing correct configural processing in the first ones but not in the second. The only factor which differentiates these tasks is the appeal or not to a motor coordination. It is possible that the lack of motor ease, often described in this type of children, sometimes leads them towards strategies of low level, i.e., to local adjustments, unlike the typical children who mobilize a strategy supported on a global representation of the purpose to be reached. CONCLUSION: If our results confirm the capacities of children with autism to resolve the tasks requiring a visiospatial processing, the strategies which they mobilize do not support the existence of a weakness of the central coherence. We suggest, in persons with autism, the idea of a priority granted to the local information treatment in the absence of a deficit of global or configural processing.
4. Robinson EB, Munir K, McCormick MC, Koenen KC, Santangelo SL. {{Brief Report: No Association Between Parental Age and Extreme Social-Communicative Autistic Traits in the General Population}}. {J Autism Dev Disord};2011 (Feb 25)
This is the first investigation of the relationship between parental age and extreme social-communicative autistic traits in the general population. The parents of 5,246 children in the Avon Longitudinal Study of Parents and Children (ALSPAC) completed the Social and Communication Disorders Checklist (SCDC). The association between parental age and SCDC scores was assessed in the full sample and among high scoring individuals (e.g. top 5%, 1%). There was no association between parental age and social-communicative autistic traits in the general population. Neither maternal nor paternal age was associated with extreme scores. These findings suggest that advanced parental age does not confer increased risk for extreme social and communication impairment assessed quantitatively.
5. Saint-Andre S, Neira Zalentein W, Robin D, Lazartigues A. {{[Telepsychiatry at the service of autism.]}}. {Encephale};2011 (Feb);37(1):18-24.
INTRODUCTION: The authors report on the set-up of a telehealth system developed to facilitate exchanges between the Autism Resource Centre of Brittany (centre de ressources pour l’autisme [CRA]) located in Brest and an adult psychiatry structure of Vannes’ Hospital in the Morbihan region, these sites are about 200 kilometres distant. OBJECTIVES: This coordinated work using computer networks aims at sustaining the action of a unit specialised in autistic patients. The goal is to both render a precise diagnostic (teleexpertise) and favour assistance and support to residents and their families while instituting a medical education tool for the health professionals of this unit. METHODS: The creation of this telehealth experience, using multiple contact video conferencing, was possible thanks to the existence of the Megalis network, a high speed telecommunication system deployed in the Britanny and Loire region. The connexion of the two sites is made through Cisco type routers. Both sites are linked to the network through urban fiber optics (2-40 MMytes/s output) or Integrated Services Digital Network (ISDN) Access (64 or 128 kbytes/s output). This virtual private network (VPN) style high speed link offers a transparent and secure connexion through the service provider (Novasight) which supervises the technical organisation and the management of the address books of the various listed sites, controls access to the network and manages the network speed. As far as appliances are concerned, (video camera, LCD screen, microphone, maintenance, training), the cost is about 11,000 euros. From their experience, the authors develop the following applications: tele-staffs are meetings of about 2hours in length. DISCUSSION: The authors insist on some essential rules, such as putting on the agenda the items to be discussed at the meeting, handing out to everyone the documents needed for the meeting, and designating someone in charge of guaranteeing the good progress of the meeting. His/her functions are to guarantee a precise format for the meeting, to distribute speaking time fairly, to clearly formulate the decisions made (organisation of results, summing up diagnostic results and evaluation of competencies, common institutional actions, arrangement of projects, university research and trainings, scheduling future meetings). Still using their experiences, the authors put forward several recommendations on technology, video and audio links (framing, sound checks, multidirectional microphones, video quality – forcing people to limit rapid gestures…) but also insist on having fit for purpose rooms (soundproofing, neutral decor, homogenous lighting, neon for example…). Contact with patients and their family through video-conference: despite being used less, this technique has shown its pertinence especially for the evaluation of diagnostics and competencies. In practice, the families are joined by the health professionals in charge of the patient in that institution. A meeting chair must be nominated, in our case the doctor in charge of the unit for autistic persons. The doctor from the CRA sits in on the meeting as consulting expert and intervenes at the invitation of the chair. The plan for the meeting and the must-ask questions have to be determined beforehand by the two doctors, so as make sure the meeting will be fast flowing and all the relevant clinical and biographical data are collated. Families, seeing different institutions working together to help their family member despite the distances using high tech solutions, were very satisfied. CONCLUSION: On the whole, the authors help us to have good insight into the obstacles (cultural, administrative, technological) and the benefits (availability of consultants with specific competencies, reduction in the waiting time, more efficient use of resources, reduction in costs and risks of travel and of CO(2) emissions…). They believe that health professionals cannot and should not completely avoid travel to the other sites because it is important to get to know the teams well, which is a prerequisite to a good video-conference meeting. This helps creating new directions for the future.
6. White SJ, Saldana D. {{Performance of Children with Autism on the Embedded Figures Test: A Closer Look at a Popular Task}}. {J Autism Dev Disord};2011 (Feb 25)
The Embedded Figures Test assesses weak central coherence and individuals with autism are commonly assumed to perform superiorly; however, the evidence for this claim is somewhat mixed. Here, two large (N = 45 and 62) samples of high-functioning children (6-16 years) with autism spectrum disorder performed similarly to typically-developing children on accuracy and reaction time measures; this could not be attributed to insufficient power. Inconsistent past findings are most likely due to methodological and analysis techniques, as well as heterogeneity in central coherence within autism spectrum disorders. While this task has been useful in establishing weak central coherence as a cognitive theory in autism, inconsistent past findings and its inability to disentangle global and local processing suggest that it should be used with caution in the future.
7. Williams K, Hazell P. {{Selective serotonin reuptake inhibitors for autism spectrum disorders}}. {J Evid Based Med};2010 (Nov);3(4):231.
