Pubmed du 1er/03/09

mardi 3 mars 2009

1. Allen ML. Brief report : decoding representations : how children with autism understand drawings. J Autism Dev Disord ;2009 (Mar) ;39(3):539-543.

Young typically developing children can reason about abstract depictions if they know the intention of the artist. Children with autism spectrum disorder (ASD), who are notably impaired in social, ’intention monitoring’ domains, may have great difficulty in decoding vague representations. In Experiment 1, children with ASD are unable to use another person’s eye gaze as a cue for figuring out what an abstract picture represents. In contrast, when the participants themselves are the artists (Experiment 2), children with ASD are equally proficient as controls at identifying their own perceptually identical pictures (e.g. lollipop and balloon) after a delay, based upon what they intended them to be. Results are discussed in terms of intention and understanding of visual representation in autism.

2. Anderson CJ, Colombo J. Larger tonic pupil size in young children with autism spectrum disorder. Dev Psychobiol ;2009 (Mar) ;51(2):207-211.

The symptoms of Autism Spectrum Disorder (ASD) have been suggested to manifest from atypical functioning of the autonomic nervous system (ANS), leading to altered arousal and atypical processing of salient stimuli. Coherent with this, persons with ASD show heightened autonomic activity, sleep difficulties, and structural and neurochemical alterations within the ANS. Recently, we observed decreased pupil responses to human faces in children with ASD. In the current study, we found differences in baseline (tonic) pupil size, with the ASD group exhibiting a larger pupil size than age-matched controls. Pupil responses are sensitive and reliable measures of ANS functioning, thus, this finding highlights the role of the ANS, and may provide clues about underlying neuropathology.

3. Barbaresi WJ, Colligan RC, Weaver AL, Katusic SK. The incidence of clinically diagnosed versus research-identified autism in olmsted county, Minnesota, 1976-1997 : results from a retrospective, population-based study. J Autism Dev Disord ;2009 (Mar) ;39(3):464-470.

Autism prevalence studies have often relied on administrative prevalence or clinical diagnosis as case-identification strategies. We report the incidence of clinical diagnoses of autism spectrum disorders (ASD), versus research-identified autism among residents of Olmsted County, Minnesota, age </=21 years, from 1976-1997. The incidence of clinically diagnosed ASD (with 95% CI) was 1.5 per 100,000 (0.0-3.7) in 1980-1983 and 33.1 (22.8-43.3) in 1995-1997, a 22.1-fold increase. In contrast, the incidence of research-identified autism increased from 5.5 (1.4-9.5) per 100,000 to 44.9 (32.9-56.9), an 8.2-fold increase. Only 46.8% of research-identified cases received a clinical diagnosis of ASD. These findings demonstrate the potential for misleading interpretation of results from epidemiologic studies that rely on clinical diagnosis of autism to identify cases.

4. Bassoukou IH, Nicolau J, dos Santos MT. Saliva flow rate, buffer capacity, and pH of autistic individuals. Clin Oral Investig ;2009 (Mar) ;13(1):23-27.

The objective of the study was to evaluate saliva flow rate, buffer capacity, pH levels, and dental caries experience (DCE) in autistic individuals, comparing the results with a control group (CG). The study was performed on 25 noninstitutionalized autistic boys, divided in two groups. G1 composed of ten children, ages 3-8. G2 composed of 15 adolescents ages 9-13. The CG was composed of 25 healthy boys, randomly selected and also divided in two groups : CG3 composed of 14 children ages 4-8, and CG4 composed of 11 adolescents ages 9-14. Whole saliva was collected under slight suction, and pH and buffer capacity were determined using a digital pHmeter. Buffer capacity was measured by titration using 0.01 N HCl, and the flow rate expressed in ml/min, and the DCE was expressed by decayed, missing, and filled teeth (permanent dentition [DMFT] and primary dentition [dmft]). Data were plotted and submitted to nonparametric (Kruskal-Wallis) and parametric (Student’s t test) statistical tests with a significance level less than 0.05. When comparing G1 and CG3, groups did not differ in flow rate, pH levels, buffer capacity, or DMFT. Groups G2 and CG4 differ significantly in pH (p = 0.007) and pHi = 7.0 (p = 0.001), with lower scores for G2. In autistic individuals aged 3-8 and 9-13, medicated or not, there was no significant statistical difference in flow rate, pH, and buffer capacity. The comparison of DCE among autistic children and CG children with deciduous (dmft) and mixed/permanent decayed, missing, and filled teeth (DMFT) did not show statistical difference (p = 0.743). Data suggest that autistic individuals have neither a higher flow rate nor a better buffer capacity. Similar DCE was observed in both groups studied.

5. Benson V, Piper J, Fletcher-Watson S. Atypical saccadic scanning in autistic spectrum disorder. Neuropsychologia ;2009 (Mar) ;47(4):1178-1182.

Saccadic scanning was examined for typically developing (TD) adults and those with autistic spectrum disorder (ASD) during inspection of the ’Repin’ picture (Yarbus, A. (1967). Eye movements and vision. New York : Plenum) under two different viewing instructions : (A) material instructions (’Estimate the material circumstances of the family’) ; and (B) social instructions (’Estimate how long the unexpected visitor has been away’). Proportions of fixations and viewing time on the people and the objects in the scene differed between the two task instructions for TD, but not ASD participants showing that people with ASD did not differentially sample the scene according to top down instruction. One tentative explanation for these findings is that dysfunctional or underdeveloped fronto-parietal feedback systems in ASD, could result in defective saccadic sampling strategies, leading to impairments with cognitive processing in ASD.

6. Bertoglio K, Hendren RL. New developments in autism. Psychiatr Clin North Am ;2009 (Mar) ;32(1):1-14.

The substantial increase in the prevalence of autism necessitates that practicing physicians become more familiar with the presentation of symptoms to improve early diagnoses and interventions, thus improving the prognosis for affected children. Autism is a complex neurodevelopmental disorder with a triad of core impairments in social interactions, repetitive behaviors, and communication. Clinically, autism appears as a spectrum, with many variations in the severity of defining behaviors and associated symptoms among children. Although the etiology of autism is unknown, it is thought to involve a genetic susceptibility that may be triggered by environmental factors. Because of the high variability in behaviors, biologic findings, and response to treatment, many specialists are assuming a theory of many different autisms, each of which may have a somewhat different etiology and response to treatment. Although there is no known cure for autism, many treatments are available to improve core and associated symptoms.

7. Burack JA, Joseph S, Russo N, Shore DI, Porporino M, Enns JT. Change detection in naturalistic pictures among children with autism. J Autism Dev Disord ;2009 (Mar) ;39(3):471-479.

Persons with autism often show strong reactions to changes in the environment, suggesting that they may detect changes more efficiently than typically developing (TD) persons. However, Fletcher-Watson et al. (Br J Psychol 97:537-554, 2006) reported no differences between adults with autism and TD adults with a change-detection task. In this study, we also found no initial differences in change-detection between children with autism and NVMA-matched TD children, although differences emerged when detection failures were related to the developmental level of the participants. Whereas detection failures decreased with increasing developmental level for TD children, detection failures remained constant over the same developmental range for children with autism, pointing to an atypical developmental trajectory for change-detection among children with autism.

8. Enstrom A, Krakowiak P, Onore C, Pessah IN, Hertz-Picciotto I, Hansen RL, Van de Water JA, Ashwood P. Increased IgG4 levels in children with autism disorder. Brain Behav Immun ;2009 (Mar) ;23(3):389-395.

Accumulating evidence indicates that immune dysfunction is associated with autism disorders in a significant subset of children. Previous reports have shown abnormal immunoglobulin (Ig) levels, including an increased presence of autoreactive antibodies in the circulation of individuals with autism. As IgG is the predominant antibody isotype in circulation, we expected that an altered immune response could result in an abnormal IgG subclass profile in children with autism. We examined circulating plasma levels of IgG1, IgG2, IgG3, and IgG4 in 241 children from the CHARGE (Childhood Autism Risks from Genetics and the Environment) study, a large epidemiologic case-control investigation, including 114 children who meet full criteria for autism disorder (AU), 96 typically developing control children (TD) from a randomly selected sample of the general population, and 31 children with developmental delays (DD). We report significantly increased levels of the IgG4 subclass in children with AU compared with TD control children (p=0.016) and compared with DD controls (p=0.041). These results may suggest an underlying immunological abnormality in AU subjects resulting in elevated IgG4 production. Further investigation is necessary to elucidate the relationship between immunological findings and behavioral impairments in autism.

9. Faja S, Webb SJ, Merkle K, Aylward E, Dawson G. Brief report : face configuration accuracy and processing speed among adults with high-functioning autism spectrum disorders. J Autism Dev Disord ;2009 (Mar) ;39(3):532-538.

The present study investigates the accuracy and speed of face processing employed by high-functioning adults with autism spectrum disorders (ASDs). Two behavioral experiments measured sensitivity to distances between features and face recognition when performance depended on holistic versus featural information. Results suggest adults with ASD were less accurate, but responded as quickly as controls for both tasks. In contrast to previous findings with children, adults with ASD demonstrated a holistic advantage only when the eye region was tested. Both groups recognized large manipulations to second-order relations more accurately than no change or small changes, but controls responded more quickly than participants with ASD when recognizing these large manipulations to configural information.

10. Fatemi SH, Folsom TD, Reutiman TJ, Thuras PD. Expression of GABA(B) Receptors Is Altered in Brains of Subjects with Autism. Cerebellum ;2009 (Mar) ;8(1):64-69.

Autism is a neurodevelopmental disorder that is often comorbid with seizures. Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in brain. GABA(B) receptors play an important role in maintaining excitatory-inhibitory balance in brain and alterations may lead to seizures. We compared levels of GABA(B) receptor subunits GABA(B) receptor 1 (GABBR1) and GABA(B) receptor 2 (GABBR2) in cerebellum, Brodmann’s area 9 (BA9), and BA40 of subjects with autism and matched controls. Levels of GABBR1 were significantly decreased in BA9, BA40, and cerebellum, while GABBR2 was significantly reduced in the cerebellum. The presence of seizure disorder did not have a significant impact on the observed reductions in GABA(B) receptor subunit expression. Decreases in GABA(B) receptor subunits may help explain the presence of seizures that are often comorbid with autism, as well as cognitive difficulties prevalent in autism.

11. Gadow KD, Devincent CJ, Schneider J. Comparative study of children with ADHD only, autism spectrum disorder + ADHD, and chronic multiple tic disorder + ADHD. J Atten Disord ;2009 (Mar) ;12(5):474-485.

Objective : Identification of differences among children with ADHD only, autism spectrum disorder (ASD)+ADHD, and chronic multiple tic disorder (CMTD)+ADHD may lead to better understanding of clinical phenotypes. Method : Children were evaluated using the parent- and teacher-completed questionnaires. Results : All three groups were highly similar in severity of oppositional defiant disorder and conduct disorder symptoms ; however, the ASD+ADHD group generally exhibited the most severe anxiety, although the CMTD+ADHD group had the most severe generalized anxiety. The two comorbid groups had the most involved medical histories and the greatest likelihood of a family history of psychopathology. Conclusion : Groups differed in clinically meaningful ways, and the apparent association between tics and anxiety may explain in part the elevated levels of anxiety in both comorbid groups. Collectively, results suggest that ADHD may be better conceptualized as a family of interrelated syndromes defined in part by comorbid conditions and that continued research is clearly warranted. (J. of Att. Dis. 2009 ; 12(5) 474-485).

12. Hernandez N, Metzger A, Magne R, Bonnet-Brilhault F, Roux S, Barthelemy C, Martineau J. Exploration of core features of a human face by healthy and autistic adults analyzed by visual scanning. Neuropsychologia ;2009 (Mar) ;47(4):1004-1012.

Autism is a neurodevelopmental disorder characterized by disorders in social interaction and emotional reciprocity which can be explained by impairments of the ability to understand the mental states of others ("theory of mind") and recognition of facial expressions. These impairments may be related to the difficulties with face recognition characteristic of this disorder. Face perception plays a critical role in the development of social interaction and understanding of the internal emotional state of others. It depends on initial oculomotor exploration. The aim of this study was to quantify ocular behaviour in 11 adults with autism and 23 healthy subjects (15-35 years) while exploring neutral faces and faces expressing an emotion using an eye tracking method. The strategy used to explore faces was also studied. All subjects spent significantly more time on the eye region than on the rest of the face. However, subjects with autism spent less time on the eye region than healthy subjects. The latter used a strategy based on their own eye dominance when exploring faces. All healthy subjects significantly began their exploration of a face by looking at the eye in the contralateral visual field to their dominant eye. This strategy seemed to be impaired in patients with autism. To conclude, these results contrast with earlier reports regarding the lack of interest in the eye region in patients with autism, and demonstrate for the first time that perception of the face is dependent on eye dominance.

13. Hobson JA, Harris R, Garcia-Perez R, Hobson RP. Anticipatory concern : a study in autism. Dev Sci ;2009 (Mar) ;12(2):249-263.

There has been substantial research on children’s empathic responsiveness towards distressed people, and on the limited responsiveness of children with autism. To date, however, there have not been experimental studies to test how far children show concern towards someone who might be expected to feel badly, when that person has not (yet) expressed any negative feelings. We tested matched groups of children with autism and learning disability, and typically developing children of similar verbal mental age (approximately 6 years), with a novel procedure in which participants witnessed one person (E1) tearing the drawing of another (E2). In a comparison condition, a blank card was torn. In the torn-drawing condition, as predicted, fewer participants with autism orientated towards E2 with an immediate look, and as a group, they were rated as showing less concern for, and fewer concerned looks towards, E2. We discuss possible implications for theoretical perspectives on the early development of empathy in typically as well as atypically developing children.

14. Jeste SS, Nelson CA, 3rd. Event related potentials in the understanding of autism spectrum disorders : an analytical review. J Autism Dev Disord ;2009 (Mar) ;39(3):495-510.

In this paper we critically review the literature on the use of event related potentials (ERPs) to elucidate the neural sources of the core deficits in autism. We review auditory and visual ERP studies, and then review the use of ERPs in the investigation of executive function. We conclude that, in autism, impairments likely exist in both low and higher level auditory and visual processing, with prominent impairments in the processing of social stimuli. We also discuss the putative neural circuitry underlying these deficits. As we look to the future, we posit that tremendous insight can be gained by applying ERPs to the definition of endophenotypes, which, in turn, can facilitate early diagnosis and the creation of informed interventions for children with autism.

15. Jones CD, Schwartz IS. When Asking Questions is Not Enough : An Observational Study of Social Communication Differences in High Functioning Children with Autism. J Autism Dev Disord ;2009 (Mar) ;39(3):432-443.

This investigation examined communication patterns between high functioning children with autism and their families and typically developing children and their families within traditional dinner time conversation. Twenty families with a child with autism (3.5-7 years.) and ten families with typically developing children (3.5-6 years) were video recorded during dinner and their interactions were coded. Results revealed that children with autism initiated fewer bids for interactions, commented less often, continued ongoing interactions through fewer conversational turns, and responded less often to family member communication bids. Results are interpreted with respect to how communication patterns may be indicative of social communication deficits not previously examined in high functioning children with autism. Strategies for social communication interventions within the family and other natural contexts are discussed.

16. Kalyva E. Comparison of Eating Attitudes between Adolescent Girls with and without Asperger Syndrome : Daughters’ and Mothers’ Reports. J Autism Dev Disord ;2009 (Mar) ;39(3):480-486.

Despite the evidence that individuals with Asperger syndrome (AS) have a propensity for being underweight or having comorbid eating disorders, no previous research has compared the eating attitudes of adolescent girls with AS to typically developing peers. This study compared reports of eating problems provided by the adolescent girls themselves (56 with and 56 without AS) and their mothers on the EAT-26. Results indicated that adolescent girls with AS are at a higher risk for eating problems than their typically developing peers according to their reports and the reports of their mothers. Moreover, it was found that although the agreement between mothers’ and daughter’s reports is very satisfactory, mothers of girls with AS report statistically less eating-disordered behaviors than their daughters.

17. Lawer L, Brusilovskiy E, Salzer MS, Mandell DS. Use of vocational rehabilitative services among adults with autism. J Autism Dev Disord ;2009 (Mar) ;39(3):487-494.

This study examined the experiences of individuals with autism spectrum disorders (ASD) in the US Vocational Rehabilitation System (VRS). Subjects included all 382,221 adults ages 18-65 served by this system whose cases were closed in 2005 ; 1,707 were diagnosed with ASD. Adults with ASD were more likely than adults with other impairments to be denied services because they were considered too severely disabled. Among those served, adults with ASD received the most expensive set of services. They and adults with MR were most likely to be competitively employed at case closure. Post hoc analyses suggest that their employment was highly associated with on-the-job supports. The results suggest the importance of the VRS in serving adults with ASD.

18. Mandell DS, Wiggins LD, Carpenter LA, Daniels J, DiGuiseppi C, Durkin MS, Giarelli E, Morrier MJ, Nicholas JS, Pinto-Martin JA, Shattuck PT, Thomas KC, Yeargin-Allsopp M, Kirby RS. Racial/ethnic disparities in the identification of children with autism spectrum disorders. Am J Public Health ;2009 (Mar) ;99(3):493-498.

OBJECTIVES : We sought to examine racial and ethnic disparities in the recognition of autism spectrum disorders (ASDs). METHODS : Within a multisite network, 2568 children aged 8 years were identified as meeting surveillance criteria for ASD through abstraction of evaluation records from multiple sources. Through logistic regression with random effects for site, we estimated the association between race/ethnicity and documented ASD, adjusting for gender, IQ, birthweight, and maternal education. RESULTS : Fifty-eight percent of children had a documented autism spectrum disorder. In adjusted analyses, children who were Black (odds ratio [OR] = 0.79 ; 95% confidence interval [CI] = 0.64, 0.96), Hispanic (OR = 0.76 ; CI = 0.56, 0.99), or of other race/ethnicity (OR = 0.65 ; CI = 0.43, 0.97) were less likely than were White children to have a documented ASD. This disparity persisted for Black children, regardless of IQ, and was concentrated for children of other ethnicities when IQ was lower than 70. CONCLUSIONS : Significant racial/ethnic disparities exist in the recognition of ASD. For some children in some racial/ethnic groups, the presence of intellectual disability may affect professionals’ further assessment of developmental delay. Our findings suggest the need for continued professional education related to the heterogeneity of the presentation of ASD.

19. Marcason W. What is the current status of research concerning use of a gluten-free, casein-free diet for children diagnosed with autism ? J Am Diet Assoc ;2009 (Mar) ;109(3):572.

20. Martirosian G, Ekiel A, Aptekorz M, Kazek B, Marszal E, Jankowska-Steifer E, Moskalewski S. Intestinal anaerobic bacteria and autistic mind : is there some relations ? Comment to : The autistic mind : A case study Katarzyna Markiewicz, Bruce Duncan MacQueen Med Sci Monit, 2009 ; 15(1) : CS5-13. Med Sci Monit ;2009 (Mar) ;15(3):LE2-3.

21. Matson JL, Boisjoli JA. The token economy for children with intellectual disability and/or autism : a review. Res Dev Disabil ;2009 (Mar-Apr) ;30(2):240-248.

One of the most important technologies of behavior modifiers and applied behavior analysts over the last 40 years has been the token economy. These procedures are useful in that they help provide a structured therapeutic environment, and mimic other naturally occurring reinforcement systems such as the use of money. Token economies, at least from a research standpoint, appeared to have crested in popularity during the 1980’s. However, for children with intellectual disability (ID) and/or autism, such methods continue to hold considerable therapeutic promise. An overview of past developments, current status, and potential future trends and applications with respect to this special population are discussed.

22. Mehler MF, Purpura DP. Autism, fever, epigenetics and the locus coeruleus. Brain Res Rev ;2009 (Mar) ;59(2):388-392.

Some children with autism spectrum disorders (ASD) exhibit improved behaviors and enhanced communication during febrile episodes. We hypothesize that febrigenesis and the behavioral-state changes associated with fever in autism depend upon selective normalization of key components of a functionally impaired locus coeruleus-noradrenergic (LC-NA) system. We posit that autistic behaviors result from developmental dysregulation of LC-NA system specification and neural network deployment and modulation linked to the core behavioral features of autism. Fever transiently restores the modulatory functions of the LC-NA system and ameliorates autistic behaviors. Fever-induced reversibility of autism suggests preserved functional integrity of widespread neural networks subserving the LC-NA system and specifically the subsystems involved in mediating the cognitive and behavioral repertoires compromised in ASD. Alterations of complex gene-environmental interactions and associated epigenetic mechanisms during seminal developmental critical periods are viewed as instrumental in LC-NA dysregulation as emphasized by the timing and severity of prenatal maternal stressors on autism prevalence. Our hypothesis has implications for a rational approach to further interrogate the interdisciplinary etiology of ASD and for designing novel biological detection systems and therapeutic agents that target the LC-NA system’s diverse network of pre- and postsynaptic receptors, intracellular signaling pathways and dynamic epigenetic remodeling processes involved in their regulation and functional plasticity.

23. Minnes P, Steiner K. Parent views on enhancing the quality of health care for their children with fragile X syndrome, autism or Down syndrome. Child Care Health Dev ;2009 (Mar) ;35(2):250-256.

BACKGROUND : International research in recent years has begun to focus on the medical problems of individuals with intellectual disabilities and on family stress in accessing health services for persons with developmental disabilities. Less is known about the needs of individuals in different diagnostic groups, or about their experiences of systems of care. Therefore, we report the results of focus groups with parents of children or adults with fragile X syndrome, autism or Down syndrome. METHODS : Semi-structured group interviews with parents of children, youth or adults from each of three diagnostic groups probed perceptions of challenges and successes in obtaining and negotiating healthcare services in Ontario, Canada. RESULTS : Parents described diverse barriers to care, the need for advocacy in securing services, perceptions of service delivery and the role of healthcare professionals in regulating access to a wide range of services. Diagnostic services represented one area of central concern to parents from all three groups. DISCUSSION : Focus group data yielded a wide range of concerns. Suggestions for enhancing the system included expanding syndrome-specific education for medical students and health professionals and creating a centre that could offer service-related information for parents.

24. Palmer RF, Blanchard S, Wood R. Proximity to point sources of environmental mercury release as a predictor of autism prevalence. Health Place ;2009 (Mar) ;15(1):18-24.

The objective of this study was to determine if proximity to sources of mercury pollution in 1998 were related to autism prevalence in 2002. Autism count data from the Texas Educational Agency and environmental mercury release data from the Environmental Protection Agency were used. We found that for every 1000 pounds of industrial release, there was a corresponding 2.6% increase in autism rates (p<.05) and a 3.7% increase associated with power plant emissions(P<.05). Distances to these sources were independent predictors after adjustment for relevant covariates. For every 10 miles from industrial or power plant sources, there was an associated decreased autism Incident Risk of 2.0% and 1.4%, respectively (p<.05). While design limitations preclude interpretation of individual risk, further investigations of environmental risks to child development issues are warranted.

25. Papanikolaou K, Paliokosta E, Houliaras G, Vgenopoulou S, Giouroukou E, Pehlivanidis A, Tomaras V, Tsiantis I. Using the autism diagnostic interview-revised and the autism diagnostic observation schedule-generic for the diagnosis of autism spectrum disorders in a greek sample with a wide range of intellectual abilities. J Autism Dev Disord ;2009 (Mar) ;39(3):414-420.

We studied the interrelationship between the Autism Diagnostic Observation Schedule-Generic (ADOS-G), the Autism Diagnostic Interview-Revised (ADI-R) and DSM-IV clinical diagnosis, in a Greek sample of 77 children and adolescents, referred for the assessment of a possible pervasive developmental disorder (PDD) and presenting a wide range of cognitive abilities. The agreement of the ADOS-G and the ADI-R with the clinical diagnosis was estimated as satisfactory and moderate, respectively, while both instruments presented with excellent sensitivity for the diagnosis of autistic disorder along with satisfactory specificity. ADOS-G/ADI-R agreement was estimated as fair. Our results confirm the discriminant validity of ADI-R and ADOS-G in diagnosing pervasive developmental disorders in children and adolescents with a wide range of intellectual abilities.

26. Phelps KW, Hodgson JL, McCammon SL, Lamson AL. Caring for an individual with autism disorder : a qualitative analysis. J Intellect Dev Disabil ;2009 (Mar) ;34(1):27-35.

BACKGROUND : Caregivers in this qualitative study reported the multidimensional implications of having a child with autism on their family’s lives and overall functioning. METHOD : The Effects of the Situation Questionnaire (Yatchmenoff, Koren, Friesen, Gordon, & Kinney, 1998) was used to gather qualitative data from 80 caregivers. Colaizzi’s (1978) phenomenological data analysis method was used to analyse the caregivers’ written narratives. Biopsychosocial-spiritual, systemic, and ecological theoretical lenses were used to conceptualise the recorded experiences. RESULTS : Seven thematic content areas emerged from the caregivers’ data. They include : psychological implications, familial implications, social implications, services, spiritual benefits, economic challenges, and focus on the future of having a child diagnosed with autism. CONCLUSIONS : The results of this study offer valuable insight into how helping professionals may attend to the biological, psychological, social, and spiritual dimensions of those caring for an individual with autism.

27. Qvarfordt I, Engerstrom IW, Eliasson AC. Guided eating or feeding : three girls with Rett syndrome. Scand J Occup Ther ;2009 (Mar) ;16(1):33-39.

Rett syndrome (RTT) considerably limits participation in daily activities but food and mealtimes are most often motivating activities for persons with RTT. The aim of this study was to investigate whether there is a difference in participation during meals when the persons eating do so through guided eating compared with being fed.Three girls with classic RTT participated in a study inspired by single-subject design. Investigation was performed during two meals at which the girls were fed and during a seven- to eight-week period when guided eating took place. Video analysis and registration forms were used, investigating (1) coordination between opening of the mouth and spoon movement, (2) signs of involvement during the meal, and (3) cooperation in arm movements during guided eating. Guided eating led to improved coordination between opening of the mouth and spoon movement, resulting in opening of the mouth before the spoon arrived, for all of the girls. Signs of involvement changed in two of the girls. According to the guiders, they were able to feel cooperation in arm movements during the different food intake sequences in all three girls. These results indicate that guided eating improved involvement and participation in the eating process in these girls.

28. Renieri A, Mari F, Mencarelli MA, Scala E, Ariani F, Longo I, Meloni I, Cevenini G, Pini G, Hayek G, Zappella M. Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain Dev ;2009 (Mar) ;31(3):208-216.

The preserved speech variant is the milder form of Rett syndrome : affected girls show the same stages of this condition and by the second half of the first decade are making slow progress in manual and verbal abilities. They walk without help, and may be able to make simple drawings and write a few words. Most of them can speak in sentences. Autistic behavior can often be observed. We previously described several cases in the pre-molecular era and subsequently reported a survey of 12 cases with MECP2 mutations. Seventeen new patients with the preserved speech variant and a proven MECP2 mutation have been clinically evaluated. Additional clinical data of our previously described cases are reported. These 29 preserved speech variant cases were compared with 129 classic Rett patients using a clinical severity score system including 22 different signs. There was both statistical and clinical evidence of the existence of this variant. On the basis of their abilities these girls can be distinguished as low-, intermediate- and high-functioning. Girls of the last two groups show a greater homogeneity : they speak in sentences, use their hands more easily, have normal somatic features, mild neurovegetative abnormalities, with autistic behavior in 76%, epilepsy in 30%, while girls of the first group are closer to classic Rett syndrome. The majority of patients carries either missense mutations (especially the p.R133C change) or late truncating mutations in the MECP2 gene. These results confirm the existence of this variant of Rett syndrome (Zappella variant), a clear example of progress of manual and verbal abilities, and not of a "preserved speech" and suggest corresponding diagnostic criteria.

29. Riby DM, Hancock PJ. Do faces capture the attention of individuals with williams syndrome or autism ? Evidence from tracking eye movements. J Autism Dev Disord ;2009 (Mar) ;39(3):421-431.

The neuro-developmental disorders of Williams syndrome (WS) and autism can reveal key components of social cognition. Eye-tracking techniques were applied in two tasks exploring attention to pictures containing faces. Images were (i) scrambled pictures containing faces or (ii) pictures of scenes with embedded faces. Compared to individuals who were developing typically, participants with WS and autism showed atypicalities of gaze behaviour. Individuals with WS showed prolonged face gaze across tasks, relating to the typical WS social phenotype. Participants with autism exhibited reduced face gaze, linking to a lack of interest in socially relevant information. The findings are interpreted in terms of wider issues regarding socio-cognition and attention mechanisms.

30. Roohi J, Montagna C, Tegay DH, Palmer LE, Devincent C, Pomeroy JC, Christian SL, Nowak N, Hatchwell E. Disruption of contactin 4 in three subjects with autism spectrum disorder. J Med Genet ;2009 (Mar) ;46(3):176-182.

BACKGROUND : Autism spectrum disorder (ASD) is a developmental disorder of the central nervous system of largely unknown aetiology. The prevalence of the syndrome underscores the need for biological markers and a clearer understanding of pathogenesis. For these reasons, a genetic study of idiopathic ASD was undertaken. METHODS AND RESULTS : Array based comparative genomic hybridisation identified a paternally inherited chromosome 3 copy number variation (CNV) in three SUBJECTS : a deletion in two siblings and a duplication in a third, unrelated individual. These variations were fluorescence in situ hybridisation (FISH) validated and the end points further delineated using a custom fine tiling oligonucleotide array. Polymerase chain reaction (PCR) products unique to the rearrangements were amplified and sequence analysis revealed the variations to have resulted from Alu Y mediated unequal recombinations interrupting contactin 4 (CNTN4). CONCLUSION : CNTN4 plays an essential role in the formation, maintenance, and plasticity of neuronal networks. Disruption of this gene is known to cause developmental delay and mental retardation. This report suggests that mutations affecting CNTN4 function may be relevant to ASD pathogenesis.

31. Sokhadze E, Baruth J, Tasman A, Sears L, Mathai G, El-Baz A, Casanova MF. Event-related potential study of novelty processing abnormalities in autism. Appl Psychophysiol Biofeedback ;2009 (Mar) ;34(1):37-51.

To better understand visual processing abnormalities in autism we studied the attention orienting related frontal event potentials (ERP) and the sustained attention related centro-parietal ERPs in a three stimulus oddball experiment. The three stimulus oddball paradigm was aimed to test the hypothesis that individuals with autism abnormally orient their attention to novel distracters as compared to controls. A dense-array 128 channel EGI electroencephalographic (EEG) system was used on 11 high-functioning children and young adults with autism spectrum disorder (ASD) and 11 age-matched, typically developing control subjects. Patients with ASD showed slower reaction times but did not differ in response accuracy. At the anterior (frontal) topography the ASD group showed significantly higher amplitudes and longer latencies of early ERP components (e.g., P100, N100) to novel distracter stimuli in both hemispheres. The ASD group also showed prolonged latencies of late ERP components (e.g., P2a, N200, P3a) to novel distracter stimuli in both hemispheres. However, differences were more profound in the right hemisphere for both early and late ERP components. Our results indicate augmented and prolonged early frontal potentials and a delayed P3a component to novel stimuli, which suggest low selectivity in pre-processing and later-stage under-activation of integrative regions in the prefrontal cortices. Also, at the posterior (centro-parietal) topography the ASD group showed significantly prolonged N100 latencies and reduced amplitudes of the N2b component to target stimuli. In addition, the latency of the P3b component was prolonged to novel distracters in the ASD group. In general, the autistic group showed prolonged latencies to novel stimuli especially in the right hemisphere. These results suggest that individuals with autism over-process information needed for the successful differentiation of target and novel stimuli. We propose the potential application of ERP evaluations in a novelty task as outcome measurements in the biobehavioral treatment (e.g., EEG biofeedback, TMS) of autism.

32. Towle PO, Visintainer PF, O’Sullivan C, Bryant NE, Busby S. Detecting autism spectrum disorder from early intervention charts : methodology and preliminary findings. J Autism Dev Disord ;2009 (Mar) ;39(3):453.

33. Towle PO, Visintainer PF, O’Sullivan C, Bryant NE, Busby S. Detecting autism spectrum disorder from early intervention charts : methodology and preliminary findings. J Autism Dev Disord ;2009 (Mar) ;39(3):444-452.

Federal laws mandating a "single point of entry" for early intervention (EI) create a potential database for surveillance of early childhood disabilities. This study evaluated EI records for estimating rates of autism spectrum disorder (ASD) using a chart abstraction protocol, with good interrater agreement (k = .86). Sampling 304 EI records yielded a point prevalence of (per 1,000) 8.5 (95% CI : 4.8-10.9) and a cumulative incidence of 7.4 (95% CI : 5.5-12.4). These rates are similar to recent published estimates. Additionally, the male-to-female ratio for autism, and rates of other developmental disorders were found to be consistent with current literature. These results suggest that local systems EI records may provide an excellent resource for ASD surveillance and research.

34. Vaccarino FM, Grigorenko EL, Smith KM, Stevens HE. Regulation of cerebral cortical size and neuron number by fibroblast growth factors : implications for autism. J Autism Dev Disord ;2009 (Mar) ;39(3):511-520.

Increased brain size is common in children with autism spectrum disorders. Here we propose that an increased number of cortical excitatory neurons may underlie the increased brain volume, minicolumn pathology and excessive network excitability, leading to sensory hyper-reactivity and seizures, which are often found in autism. We suggest that Fibroblast Growth Factors (FGF), a family of genes that regulate cortical size and connectivity, may be responsible for these developmental alterations. Studies in animal models suggest that mutations in FGF genes lead to altered cortical volume, excitatory cortical neuron number, minicolum pathology, hyperactivity and social deficits. Thus, many risk factors may converge upon FGF-regulated pathogenetic pathways, which alter excitatory/inhibitory balance and cortical modular architecture, and predispose to autism spectrum disorders.

35. West L, Waldrop J, Brunssen S. Pharmacologic treatment for the core deficits and associated symptoms of autism in children. J Pediatr Health Care ;2009 (Mar-Apr) ;23(2):75-89.

Autism is a neurodevelopmental condition affecting 1 out of 160 children in the United States today. Only risperidone has Food and Drug Administration approval for the pharmacologic management of autism in children. However, health care providers may prescribe other drugs used off-label to assist autistic children and their families with the core deficits and associated behaviors of this condition. Evidence for the use of these medications will be discussed in this continuing education offering. Meta analyses, randomized clinical trials, and other prospective experimental studies of pharmacotherapy conducted in the United States in the past 10 years in children between the ages of 5 and 15 years were reviewed. The results support moderate success in treating the associated behaviors of autism and minimal success in treating core deficits across all drug classes. Preliminary evidence demonstrates possible uses for atypical antipsychotic agents, selective-serotonin reuptake inhibitors, stimulants, and N-methyl-D-aspirate receptor antagonists in decreasing the core behaviors and associated symptoms of autism. More studies and longer periods of follow-up are needed before definitive guidelines can be suggested.

36. Wong VC. Use of Complementary and Alternative Medicine (CAM) in Autism Spectrum Disorder (ASD) : Comparison of Chinese and Western Culture (Part A). J Autism Dev Disord ;2009 (Mar) ;39(3):454-463.

A cross-sectional survey of the use of CAM by children was undertaken in the Duchess of Kent Children’s Hospital in Hong Kong (March-December 2006). A questionnaire survey concerning the use of CAM was administered to chief caretakers (only the mothers) who accompanied children with neurodevelopmental disabilities followed up in our Neurodevelopmental paediatrics clinics. Four hundred and thirty agreed for interview of which 98 (22.8%) had Autism Spectrum Disorder (ASD). CAM was used in 40.8% for ASD and 21.4% of non-ASD (p < 0.001). We describe the profile of use of CAM in ASD in this part A paper. The three most common type of CAM use was Acupuncture (47.5%), Sensory Integration (42.5%), and Chinese Medicine (30%). About 76.9% of interviewees expected CAM to augment conventional treatment. Although 47.5% used both conventional western medicine and CAM, only 22.4% disclosed the use of CAM to Doctors. The following factors were significantly related to CAM use : father’s job and mother’s religion. Our frequency of CAM used in children with ASD was lower in Canada (52%) and USA (74%, 92%). The main CAM use in western culture was biological-based therapy whereas acupuncture was the most common CAM used in our locality.

37. Yoo HJ, Lee SK, Park M, Cho IH, Hyun SH, Lee JC, Yang SY, Kim SA. Family- and population-based association studies of monoamine oxidase A and autism spectrum disorders in Korean. Neurosci Res ;2009 (Mar) ;63(3):172-176.

Monoamine oxidase A gene (MAOA) has been thought to be a candidate gene implicated in autism spectrum disorder (ASD). This study evaluates the relationship between ASDs and MAOA markers (i.e., uVNTR and four single nucleotide polymorphisms (SNPs)) in 151 Korean family trios with children diagnosed with ASDs, and 193 unrelated Korean controls. The result of case-control global haplotype analysis also showed a statistically significant difference in haplotype frequencies between ASD patients and controls (male d.f.=5, p<0.001 ; female d.f.=7, p<0.001). With the specific haplotype analyses, the frequencies of the most frequent haplotype (AGG) with three SNPs (rs5906883+rs1137070+rs3027407) in ASD showed significant statistical differences between ASD patients and controls in both the male and female groups (d.f.=1, male p=0.001, female p<0.001). In a family-based association test (FBAT) analysis, it was observed that, in the dominant model, a three-repeat allele of a MAOA-uVNTR marker was preferentially transmitted in ASDs (Z=2.213, p=0.027). Moreover, in the global haplotype analysis, the statistically significant evidence of associations with ASD were demonstrated in additive and dominant models (additive chi(2)=11.349, d.f.=2, p=0.003 ; dominant chi(2)=6.198, d.f.=2, p=0.045).

38. Zoghbi HY. Rett syndrome : what do we know for sure ? Nat Neurosci ;2009 (Mar) ;12(3):239-240.


Annonces

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