Pubmed du 1/05/09

mardi 5 mai 2009

1. Altiere MJ, von Kluge S. Searching for acceptance : challenges encountered while raising a child with autism. J Intellect Dev Disabil ;2009 (Jun) ;34(2):142-152.

BACKGROUND : Autism, a severe childhood disorder, affects the family system in dramatic ways. METHOD : Fifty-two parents of children with autism were interviewed to explore their struggles and their successes qualitatively. RESULTS : Five challenges that emerged from these family’s experiences were : Development, Questioning, Devastation, Solutions, and Growth. Every parent described the confusion that resulted from their child’s behavioural presentation and the feelings of loss and devastation that occurred after discovering their child has autism. Parents, however, were swift and eager to mobilise resources to help their child, sometimes in any possible way. Almost every parent described significant, positive experiences that resulted from raising a child with autism, despite the hardships. CONCLUSIONS : The findings of this study provide important considerations for professionals and families.

2. Bilder D, Pinborough-Zimmerman J, Miller J, McMahon W. Prenatal, perinatal, and neonatal factors associated with autism spectrum disorders. Pediatrics ;2009 (May) ;123(5):1293-1300.

OBJECTIVE : To investigate prenatal, perinatal, and neonatal risk factors for autism spectrum disorders by using participants identified through broad ascertainment and reliable classification methods. METHODS : The targeted population was 8-year-old children born in 1994 and residing in 1 of the 3 most populous counties in Utah who were identified as having an autism spectrum disorder on the basis of methodology used by the 2002 Autism and Developmental Disabilities Monitoring Network. Of those identified, 132 children (115 boys, 17 girls) had birth certificate records available. Each child was matched by gender and birth year to 100 controls (11 500 boys, 1700 girls) from the birth certificate database in a nested case-control design. Birth certificate records of participants and controls were surveyed for 23 potentially pathologic prenatal, perinatal, and neonatal factors. RESULTS : The prenatal factors that occurred significantly more frequently among children with autism spectrum disorders were advanced maternal age and parity. Increased duration of education among mothers of children with autism spectrum disorders was small but statistically significant. Significant perinatal factors were breech presentation and primary cesarean delivery. When corrected for breech presentation, a known indication for cesarean delivery, the association between primary cesarean delivery and autism spectrum disorders was eliminated. There were no significant associations found between autism spectrum disorders and neonatal factors. CONCLUSIONS : In the absence of other complications suggesting fetal distress, the association between breech presentation and autism spectrum disorders in this study suggests a shared etiology rather than causal relationship. Additional investigation focused on both genetic and environmental factors that link these autism spectrum disorder risk factors individually or collectively is needed.

3. Blardi P, de Lalla A, D’Ambrogio T, Vonella G, Ceccatelli L, Auteri A, Hayek J. Long-term plasma levels of leptin and adiponectin in Rett syndrome. Clin Endocrinol (Oxf) ;2009 (May) ;70(5):706-709.

OBJECTIVE : Rett syndrome is a progressive neurological disorder affecting almost exclusively females after age 6 months and characterised by acquired microcephaly, psychomotor retardation, growth failure, purposeless hand movements, autistic-like behaviour and wide-based and stiff legged gait. Leptin and adiponectin, peptides secreted by adipose tissue, are involved in the regulation of body weight and energy expenditure. DESIGN AND PATIENTS : We investigated in patients with Rett syndrome the variations of plasma leptin and adiponectin and their relation over a 2-year period. Sixteen female patients, mean age at the basal time 9.4 +/- 4.3 years, with classical Rett syndrome were enrolled. Controls were 16 healthy female subjects, mean age at the basal time 9.9 +/- 3.4 years. MEASUREMENTS : Blood samples were withdrawn in the morning at the baseline, 12 months after and 24 months after ; plasma leptin and adiponectin concentrations were detected by ELISA. RESULTS : In patients, leptin concentrations significantly increased, while adiponectin concentrations significantly decreased. Both leptin and adiponectin values were significantly higher than those found in controls at each time. Leptin significantly correlated with adiponectin in patients, while there was not a significant correlation in controls. CONCLUSION : Since all patients were not obese, we might hypothesize that in Rett syndrome leptin and adiponectin might participate to clinical manifestations other than weight balance.

4. Bogte H, Flamma B, Van Der Meere J, Van Engeland H. Divided attention capacity in adults with autism spectrum disorders and without intellectual disability. Autism ;2009 (May) ;13(3):229-243.

Earlier research showed that divided attention, an aspect of executive function, is limited in both children and adults with autism spectrum disorders (ASDs). The current study explored divided attention capacity in adults with ASD and without intellectual disability (n = 36). Divided attention was tested using a computerized variant of a well-known memory recognition test, with two levels of cognitive load. The effect of cognitive load on reaction time performance is considered to be inversely proportional to divided attention capacity. The study failed to provide a relationship between divided attention and ASD, contrary to earlier research. Findings indicated that only the adults with ASD who used medication had a divided attention deficit, and that this group had specific difficulty reaching a binary decision in a memory search task. An additional finding was that the participants with ASD were overall slow. Possible causes and implications of these findings are discussed.

5. Bramham J, Ambery F, Young S, Morris R, Russell A, Xenitidis K, Asherson P, Murphy D. Executive functioning differences between adults with attention deficit hyperactivity disorder and autistic spectrum disorder in initiation, planning and strategy formation. Autism ;2009 (May) ;13(3):245-264.

Executive functioning deficits characterize the neuropsychological profiles of the childhood neurodevelopmental disorders of attention deficit hyperactivity disorder (ADHD) and autistic spectrum disorder (ASD). This study sought to determine whether similar impairments exist in adults with ADHD (N = 53) and ASD (N = 45) in comparison with a healthy control group (N = 31), whether the two disorders can be distinguished on the basis of their executive functioning features, and whether these impairments are related to symptom severity. Both clinical groups were found to exhibit executive functioning deficits. The ADHD group had difficulty withholding a response, with relative preservation of initiation and planning abilities. In contrast, the ASD group exhibited significant impairments in initiation, planning and strategy formation. The specific executive functioning deficits were related to severity of response inhibition impairments in ADHD and stereotyped, repetitive behaviours in ASD. These findings suggest the pattern of executive functioning deficits follows a consistent trajectory into adulthood.

6. Cimera RE, Cowan RJ. The costs of services and employment outcomes achieved by adults with autism in the US. Autism ;2009 (May) ;13(3):285-302.

This article examines the cost of services and employment outcomes obtained by adults with autism within the United States vocational rehabilitation (VR) system. It found that the number of such individuals has increased by more than 121 percent from 2002 to 2006. Moreover, though adults with autism were employed at higher rates than most disability groups investigated, they tended to work far fewer hours and earn less in wages per week. The study also found that adults with autism were among the most costly individuals to serve.

7. Crane L, Goddard L, Pring L. Sensory processing in adults with autism spectrum disorders. Autism ;2009 (May) ;13(3):215-228.

Unusual sensory processing has been widely reported in autism spectrum disorders (ASDs) ; however, the majority of research in this area has focused on children. The present study assessed sensory processing in adults with ASD using the Adult/Adolescent Sensory Profile (AASP), a 60-item self-report questionnaire assessing levels of sensory processing in everyday life. Results demonstrated that sensory abnormalities were prevalent in ASD, with 94.4 percent of the ASD sample reporting extreme levels of sensory processing on at least one sensory quadrant of the AASP. Furthermore, analysis of the patterns of sensory processing impairments revealed striking within-group variability in the ASD group, suggesting that individuals with ASD could experience very different, yet similarly severe, sensory processing abnormalities. These results suggest that unusual sensory processing in ASD extends across the lifespan and have implications regarding both the treatment and the diagnosis of ASD in adulthood.

8. Dillenburger K, Keenan M. None of the As in ABA stand for autism : dispelling the myths. J Intellect Dev Disabil ;2009 (Jun) ;34(2):193-195.

9. Edelson LR, Saudino KJ. Genetic and environmental influences on autistic-like behaviors in 2-year-old twins. Behav Genet ;2009 (May) ;39(3):255-264.

This study aims to explore the genetic and environmental contributions to autistic-like behaviors in a general population sample of toddlers. In a classic twin study of 313 same-sex, 2-year-old twin pairs, autistic-like behaviors were assessed via parent ratings on the pervasive developmental problems subscale of the Child Behavior Checklist and observationally using tester ratings on the orientation/engagement subscale of the Behavior Rating Scale. Analyses show moderate, significant heritabilities for both measures of autistic-like behaviors, as well as modest, but significant shared environmental effects. These genetic and environmental influences overlap greatly between the two measures. Autistic-like behaviors in 2-year-old twins are largely genetic in etiology, but are also influenced by a shared environmental component at this age. This is the first study to examine the etiology of such behaviors in a sample of toddlers, thus providing novel information which could guide future research on genetic and environmental factors that affect these behaviors.

10. Faber S, Zinn GM, Kern JC, 2nd, Kingston HM. The plasma zinc/serum copper ratio as a biomarker in children with autism spectrum disorders. Biomarkers ;2009 (May) ;14(3):171-180.

The frequency of zinc deficiency, copper toxicity and low zinc/copper in children with autism spectrum disorders (ASDs) may indicate decrement in metallothionein system functioning. A retrospective review of plasma zinc, serum copper and zinc/copper was performed on data from 230 children with autistic disorder, pervasive developmental disorder-NOS and Asperger’s syndrome. The entire cohort’s mean zinc level was 77.2 microg dl(-1), mean copper level was 131.5 microg dl(-1), and mean Zn/Cu was 0.608, which was below the 0.7 cut-off of the lowest 2.5% of healthy children. The plasma zinc/serum copper ratio may be a biomarker of heavy metal, particularly mercury, toxicity in children with ASDs.

11. Fitzpatrick M. Treating autism appropriately. Br J Gen Pract ;2009 (May) ;59(562):379.

12. Fombonne E. A wrinkle in time : from early signs to a diagnosis of autism. J Am Acad Child Adolesc Psychiatry ;2009 (May) ;48(5):463-464.

13. Giuliodori K, Ganzetti G, Campanati A, Simonetti O, Marconi B, Offidani A. A non-responsive chronic autoimmune urticaria in a 12-year-old autistic girl treated with cyclosporin. J Eur Acad Dermatol Venereol ;2009 (May) ;23(5):619-620.

14. Glaze DG, Percy AK, Motil KJ, Lane JB, Isaacs JS, Schultz RJ, Barrish JO, Neul JL, O’Brien WE, Smith EO. A study of the treatment of Rett syndrome with folate and betaine. J Child Neurol ;2009 (May) ;24(5):551-556.

We tested the hypothesis that increasing methyl-group pools might promote transcriptional repression by other methyl-binding proteins or by mutant methyl-CpG-binding protein 2 with altered affinity, ameliorating the clinical features of Rett syndrome. A 12-month, double-blind, placebo-controlled folate-betaine trial enrolled 73 methylCpG-binding protein 2 mutation positive female participants meeting consensus criteria for Rett syndrome. Participants were randomized as young (< age 5 years) or old (>or= age 5 years). Structured clinical assessments occurred at baseline, 3, 6, and 12 months. Primary outcome measures included quantitative evaluation of breathing and hand movements during wakefulness, growth, anthropometry, motor/behavioral function, and qualitative evaluations from electroencephalograms and parent questionnaires. In all, 68 participants completed the study. Objective evidence of improvement was not found. Subjective improvement from parent questionnaires was noted for the <5 years group. This study should inform future treatment trials regarding balancing participants with specific mutations and comparable severity to minimize selection bias.

15. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SF, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature ;2009 (Apr 28)

Autism spectrum disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins. Previous studies focusing on candidate genes or genomic regions have identified several copy number variations (CNVs) that are associated with an increased risk of ASDs. Here we present the results from a whole-genome CNV study on a cohort of 859 ASD cases and 1,409 healthy children of European ancestry who were genotyped with approximately 550,000 single nucleotide polymorphism markers, in an attempt to comprehensively identify CNVs conferring susceptibility to ASDs. Positive findings were evaluated in an independent cohort of 1,336 ASD cases and 1,110 controls of European ancestry. Besides previously reported ASD candidate genes, such as NRXN1 (ref. 10) and CNTN4 (refs 11, 12), several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGN1 and ASTN2, were enriched with CNVs in ASD cases compared to controls (P = 9.5 x 10(-3)). Furthermore, CNVs within or surrounding genes involved in the ubiquitin pathways, including UBE3A, PARK2, RFWD2 and FBXO40, were affected by CNVs not observed in controls (P = 3.3 x 10(-3)). We also identified duplications 55 kilobases upstream of complementary DNA AK123120 (P = 3.6 x 10(-6)). Although these variants may be individually rare, they target genes involved in neuronal cell-adhesion or ubiquitin degradation, indicating that these two important gene networks expressed within the central nervous system may contribute to the genetic susceptibility of ASD.

16. Jones W, Klin A. Heterogeneity and homogeneity across the autism spectrum : the role of development. J Am Acad Child Adolesc Psychiatry ;2009 (May) ;48(5):471-473.

17. Jyonouchi H. Food allergy and autism spectrum disorders : is there a link ? Curr Allergy Asthma Rep ;2009 (May) ;9(3):194-201.

Gastrointestinal (GI) symptoms are common comorbidities in children with autism spectrum disorders (ASDs). Parents often attribute these GI symptoms to food allergy (FA), although an evaluation for IgE-mediated FA is often unrevealing. Our previous studies indicated a high prevalence of non-IgE-mediated FA in young children with ASDs. Therefore, non-IgE-mediated FA may account for some but not all GI symptoms observed in children with ASDs. This raises the question of what treatment measures are applicable to ASD children with GI symptoms. A wide variety of dietary supplements and dietary intervention measures for ASD children have been promoted by medical professionals practicing complementary and alternative medicine despite the lack of rigorous scientific validation in most instances. This review summarizes possible (or proposed) etiologies of GI symptoms in ASD children and discusses risks and possible benefits of intervention measures promoted by complementary and alternative practitioners, with emphasis on FA.

18. Knapp M, Romeo R, Beecham J. Economic cost of autism in the UK. Autism ;2009 (May) ;13(3):317-336.

Autism has lifetime consequences, with potentially a range of impacts on the health, wellbeing, social integration and quality of life of individuals and families. Many of those impacts are economic. This study estimated the costs of autism spectrum disorders (ASDs) in the UK. Data on prevalence, level of intellectual disability and place of residence were combined with average annual costs of services and support, together with the opportunity costs of lost productivity. The costs of supporting children with ASDs were estimated to be pound2.7 billion each year. For adults, these costs amount to pound25 billion each year. The lifetime cost, after discounting, for someone with ASD and intellectual disability is estimated at approximately pound1.23 million, and for someone with ASD without intellectual disability is approximately pound0.80 million.

19. Kumar RA, Christian SL. Genetics of autism spectrum disorders. Curr Neurol Neurosci Rep ;2009 (May) ;9(3):188-197.

Autism spectrum disorders (ASDs) are a clinically complex group of childhood disorders that have firm evidence of an underlying genetic etiology. Many techniques have been used to characterize the genetic bases of ASDs. Linkage studies have identified several replicated susceptibility loci, including 2q24-2q31, 7q, and 17q11-17q21. Association studies and mutation analysis of candidate genes have implicated the synaptic genes NRXN1, NLGN3, NLGN4, SHANK3, and CNTNAP2 in ASDs. Traditional cytogenetic approaches highlight the high frequency of large chromosomal abnormalities (3%-7% of patients), including the most frequently observed maternal 15q11-13 duplications (1%-3% of patients). Newly developed techniques include high-resolution DNA microarray technologies, which have discovered formerly undetectable submicroscopic copy number variants, and genomewide association studies, which allow simultaneous detection of multiple genes associated with ASDs. Although great progress has been made in autism genetics, the molecular bases of most ASDs remains enigmatic.

20. Larimore JL, Chapleau CA, Kudo S, Theibert A, Percy AK, Pozzo-Miller L. Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations. Neurobiol Dis ;2009 (May) ;34(2):199-211.

The expression of the methylated DNA-binding protein MeCP2 increases during neuronal development, which suggests that this epigenetic factor is crucial for neuronal terminal differentiation. We evaluated dendritic and axonal development in embryonic day-18 hippocampal neurons in culture by measuring total length and counting branch point numbers at 4 days in vitro, well before synapse formation. Pyramidal neurons transfected with a plasmid encoding a small hairpin RNA (shRNA) to knockdown endogenous Mecp2 had shorter dendrites than control untransfected neurons, without detectable changes in axonal morphology. On the other hand, overexpression of wildtype (wt) human MECP2 increased dendritic branching, in addition to axonal branching and length. Consistent with reduced neuronal growth and complexity in Rett syndrome (RTT) brains, overexpression of human MECP2 carrying missense mutations common in RTT individuals (R106W or T158M) reduced dendritic and axonal length. One of the targets of MeCP2 transcriptional control is the Bdnf gene. Indeed, endogenous Mecp2 knockdown increased the intracellular levels of BDNF protein compared to untransfected neurons, suggesting that MeCP2 represses Bdnf transcription. Surprisingly, overexpression of wt MECP2 also increased BDNF levels, while overexpression of RTT-associated MECP2 mutants failed to affect BDNF levels. The extracellular BDNF scavenger TrkB-Fc prevented dendritic overgrowth in wt MECP2-overexpressing neurons, while overexpression of the Bdnf gene reverted the dendritic atrophy caused by Mecp2-knockdown. However, this effect was only partial, since Bdnf increased dendritic length only to control levels in mutant MECP2-overexpressing neurons, but not as much as in Bdnf-transfected cells. Our results demonstrate that MeCP2 plays varied roles in dendritic and axonal development during neuronal terminal differentiation, and that some of these effects are mediated by autocrine actions of BDNF.

21. Ma HH. The effectiveness of intervention on the behavior of individuals with autism : a meta-analysis using percentage of data points exceeding the median of baseline phase (PEM). Behav Modif ;2009 (May) ;33(3):339-359.

The aim of the present study is to demonstrate the percentage of data points exceeding the median of baseline phase (PEM) approach using data on autism treatment for illustrative purposes to compare the effectiveness of different interventions on the problem behaviors of individuals with autism. Electronic databases such as The ProQuest and Google were searched. A total of 163 articles were located, producing 1,502 effect sizes. The results demonstrate that five highly effective intervention strategies were priming, self-control, training, positive reinforcement and punishment, and presenting preferential activities. The least effective strategy was to teach perspective-taking skills. The PEM approach is recommended for use in meta-analysis for single-case experimental designs.

22. Pagnamenta AT, Wing K, Akha ES, Knight SJ, Bolte S, Schmotzer G, Duketis E, Poustka F, Klauck SM, Poustka A, Ragoussis J, Bailey AJ, Monaco AP, International Molecular Genetic Study of Autism Consortium. A 15q13.3 microdeletion segregating with autism. Eur J Hum Genet ;2009 (May) ;17(5):687-692.

Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare approximately 2 Mb microdeletion involving chromosome band 15q13.3 was detected in a multiplex autism family. This genomic loss lies between distal break points of the Prader-Willi/Angelman syndrome locus and was first described in association with MR and epilepsy. Together with recent studies that have also implicated this genomic imbalance in schizophrenia, our data indicate that this CNV shows considerable phenotypic variability. Further studies should aim to characterise the precise phenotypic range of this CNV and may lead to the discovery of genetic or environmental modifiers.

23. Phelps KW, McCammon SL, Wuensch KL, Golden JA. Enrichment, stress, and growth from parenting an individual with an autism spectrum disorder. J Intellect Dev Disabil ;2009 (Jun) ;34(2):133-141.

BACKGROUND : Past researchers have focused primarily on the associated negative impact of caring for a child with special needs. In this study, caregivers report the enrichment and stress of caring for a child with an autism spectrum disorder. METHOD : Eighty caregivers completed the Social Communication Questionnaire (SCQ), Effects of the Situation Questionnaire (ESQ), and Posttraumatic Growth Inventory (PTGI). Enrichment and stress scores were compared to symptom severity data and posttraumatic growth scores. RESULTS : Consistent with prior research, caregivers reported greater levels of stress than enrichment. On just over half of the stress/enrichment variables, parental ratings of stress and enrichment were negatively correlated. Scores of total stress and enrichment were not correlated to the severity of the individual’s symptoms or caregivers’ growth scores. CONCLUSIONS : These findings suggest that although stress is a major concern for caregivers, enrichment and growth may also occur in varying degrees.

24. Pottie CG, Cohen J, Ingram KM. Parenting a child with autism : contextual factors associated with enhanced daily parental mood. J Pediatr Psychol ;2009 (May) ;34(4):419-429.

OBJECTIVE : To examine the extent to which social support, unsupportive interactions, support services, and disruptive child behaviors predict daily positive and negative mood in parents of children with autism. METHODS : Ninety-three parents of children with autism completed initial measures of disruptive child behaviors, and support services, then biweekly measures of daily stress, received emotional and instrumental social support, unsupportive social interactions, and mood over 3 months. RESULTS : Greater levels of daily positive mood were associated with more emotional and instrumental support, and less parenting stress and unsupportive interactions. Greater daily negative mood was associated with less emotional support and more parenting stress, unsupportive interactions, and disruptive child behaviors. Emotional support, unsupportive interactions, and disruptive child behaviors moderated the stress-mood relationship. CONCLUSIONS : Daily received social support and unsupportive interactions, and disruptive child behaviors are important predictors of daily mood. Identifying interpersonal processes that enhance psychological well-being may inform future parenting interventions.

25. Punshon C, Skirrow P, Murphy G. The "not guilty verdict" : Psychological reactions to a diagnosis of Asperger syndrome in adulthood. Autism ;2009 (May) ;13(3):265-283.

Asperger syndrome is a relatively new diagnostic classification. A number of factors make receiving a diagnosis of Asperger syndrome in adulthood a unique experience. This study used a phenomenological approach to examine the experiences of 10 adults receiving such a diagnosis. Results suggested that six major themes were associated with receiving a diagnosis of Asperger syndrome. Individuals discussed their negative life experiences and their experience of services prior to diagnosis, which led to individuals holding certain beliefs about the symptoms of Asperger syndrome. These beliefs had an effect on the formation of each individual’s perceived self-identity. Participants made links between how they felt when they received the diagnosis and their current beliefs about both their ;symptoms’ and themselves. Finally, participants highlighted the importance of the societal view of Asperger syndrome. The implications of these findings are reappraised in the context of previous research and the wider literature on identity formation.

26. Saldana D, Alvarez RM, Lobaton S, Lopez AM, Moreno M, Rojano M. Objective and subjective quality of life in adults with autism spectrum disorders in southern Spain. Autism ;2009 (May) ;13(3):303-316.

Subjective and objective measures of quality of life (QoL) were obtained for adults with autism spectrum disorders (ASDs) living in Andalusia (Spain). Seventy-four families responded to questionnaires about objective QoL indicators such as employment, health, adaptive behaviour and social network, and were asked to act as proxies for subjective QoL measures. Outcome on objective QoL was extremely poor. Social networks were most frequently composed of family members. Community-oriented resources were absent in most cases. For two-thirds of the families, the ability to act as proxies for subjective QoL was seriously limited by the participants’ poor social and communicative abilities. The results are indicative of the need for additional support to families of adults with ASD and increased community-based resources. Further conceptualization of indicators and measurement of subjective QoL in individuals with severe disabilities and ASD is also needed in order to include their own perspective in the evaluation of service provision.

27. Shattuck PT, Durkin M, Maenner M, Newschaffer C, Mandell DS, Wiggins L, Lee LC, Rice C, Giarelli E, Kirby R, Baio J, Pinto-Martin J, Cuniff C. Timing of identification among children with an autism spectrum disorder : findings from a population-based surveillance study. J Am Acad Child Adolesc Psychiatry ;2009 (May) ;48(5):474-483.

OBJECTIVE : At what age are children with an autism spectrum disorder (ASD) identified by community providers ? What factors influence the timing of when children are identified with ASDs ? This study examined the timing of when children with ASDs are identified. METHOD : Data came from 13 sites participating in the Centers for Disease Control and Prevention’s 2002 multisite ongoing autism surveillance program, the Autism and Developmental Disabilities Monitoring Network. Survival analysis was used to examine factors that influence the timing of community-based identification and diagnosis. RESULT : Data from health and education records reveal that the median age of identification was 5.7 years (SE 0.08 years). Parametric survival models revealed that several factors were associated with a younger age of identification : being male, having an IQ of 70 or lower, and having experienced developmental regression. Significant differences in the age of identification among the 13 sites were also discovered. CONCLUSIONS : The large gap between the age at which children can be identified and when they actually are identified suggests a critical need for further research, innovation, and improvement in this area of clinical practice.

28. Thambirajah AA, Eubanks JH, Ausio J. MeCP2 post-translational regulation through PEST domains : two novel hypotheses : potential relevance and implications for Rett syndrome. Bioessays ;2009 (May) ;31(5):561-569.

Mutations in the methyl-CpG-binding protein 2 (MeCP2) cause Rett syndrome, a severe neurodevelopmental disease associated with ataxia and other post-natal symptoms similar to autism. Much research interest has focussed on the implications of MeCP2 in disease and neuron physiology. However, little or no attention has been paid to how MeCP2 turnover is regulated. The post-translational control of MeCP2 is of critical importance, especially as subtle increases or decreases in MeCP2 amounts can affect neuron morphology and function. The latter point is of particular importance for gene therapeutic approaches in which exogenous wild-type MeCP2 is being introduced into diseased neurons. Further to this, we propose two hypotheses. The first hypothesis discusses the poly-ubiquitin-mediated post-translational regulation of MeCP2 through its two PEST domains. The second hypothesis explores the use of histone deacetylase inhibitors to modulate the amounts of MeCP2 expressed in conjunction with the aforementioned therapeutic approaches.

29. Thiessen C, Fazzio D, Arnal L, Martin GL, Yu CT, Keilback L. Evaluation of a self-instructional manual for conducting discrete-trials teaching with children with autism. Behav Modif ;2009 (May) ;33(3):360-373.

Discrete-trials teaching (DTT) is commonly used to implement applied behavior analysis treatment for children with autism. The authors investigated a revised self-instructional manual for teaching university students to implement a 21-component DTT procedure to teach three tasks to confederates role-playing children with autism. Also, as a motivational contingency, for each DTT session in which a student scored at or above 90% accuracy, they received US$10. After an average of 4.5 hr to master the training manual, students’ average DTT performance improved from 52% in baseline to 88% while teaching a confederate. Students averaged 77% DTT performance during subsequent generalization sessions with a child with autism.

30. Toal F, Bloemen OJ, Deeley Q, Tunstall N, Daly EM, Page L, Brammer MJ, Murphy KC, Murphy DG. Psychosis and autism : magnetic resonance imaging study of brain anatomy. Br J Psychiatry ;2009 (May) ;194(5):418-425.

BACKGROUND : Autism-spectrum disorder is increasingly recognised, with recent studies estimating that 1% of children in South London are affected. However, the biology of comorbid mental health problems in people with autism-spectrum disorder is poorly understood. AIMS : To investigate the brain anatomy of people with autism-spectrum disorder with and without psychosis. METHOD : We used in vivo magnetic resonance imaging and compared 30 adults with autism-spectrum disorder (14 with a history psychosis) and 16 healthy controls. RESULTS : Compared with controls both autism-spectrum disorder groups had significantly less grey matter bilaterally in the temporal lobes and the cerebellum. In contrast, they had increased grey matter in striatal regions. However, those with psychosis also had a significant reduction in grey matter content of frontal and occipital regions. Contrary to our expectation, within autism-spectrum disorder, comparisons revealed that psychosis was associated with a reduction in grey matter of the right insular cortex and bilaterally in the cerebellum extending into the fusiform gyrus and the lingual gyrus. CONCLUSIONS : The presence of neurodevelopmental abnormalities normally associated with autism-spectrum disorder might represent an alternative ’entry-point’ into a final common pathway of psychosis.

31. Trembath D, Balandin S, Togher L, Stancliffe RJ. Peer-mediated teaching and augmentative and alternative communication for preschool-aged children with autism. J Intellect Dev Disabil ;2009 (Jun) ;34(2):173-186.

BACKGROUND : The aim of this study was to assess the effectiveness of two communication interventions for preschool-aged children with autism. METHOD : Six typically developing peers were taught to implement peer-mediated naturalistic teaching, with and without a speech generating device (SGD), during play sessions with 3 classmates with autism in three preschools. Generalisation probes were conducted during mealtimes at the preschools. A multiple baseline design was used to assess the outcomes of the two intervention conditions. RESULTS : All 3 children with autism increased their communicative behaviours immediately following the introduction of the two interventions, and generalised these increases to mealtime interactions with their peers. However, only 1 child maintained these increases in communication. CONCLUSION : These results provide preliminary evidence for the effectiveness of combining peer-mediated naturalistic teaching with the use of SGDs for preschool-aged children with autism. Suggestions for improving the maintenance of intervention effects are provided.

32. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature ;2009 (Apr 28)

Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental and neuropsychiatric disorders characterized by deficits in verbal communication, impairment of social interaction, and restricted and repetitive patterns of interests and behaviour. To identify common genetic risk factors underlying ASDs, here we present the results of genome-wide association studies on a cohort of 780 families (3,101 subjects) with affected children, and a second cohort of 1,204 affected subjects and 6,491 control subjects, all of whom were of European ancestry. Six single nucleotide polymorphisms between cadherin 10 (CDH10) and cadherin 9 (CDH9)-two genes encoding neuronal cell-adhesion molecules-revealed strong association signals, with the most significant SNP being rs4307059 (P = 3.4 x 10(-8), odds ratio = 1.19). These signals were replicated in two independent cohorts, with combined P values ranging from 7.4 x 10(-8) to 2.1 x 10(-10). Our results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to our knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs.

33. Whittingham K, Sofronoff K, Sheffield J, Sanders MR. Stepping Stones Triple P : an RCT of a parenting program with parents of a child diagnosed with an autism spectrum disorder. J Abnorm Child Psychol ;2009 (May) ;37(4):469-480.

Whilst the Triple P Positive Parenting Program has a large evidence base (Sanders, Clinical Child and Family Psychology Review 2:71-90, 1999 ; Sanders, Journal of Consulting and Clinical Psychology 68:624-640, 2000) and preliminary evidence indicates that Stepping Stones Triple P is also efficacious (Roberts, Journal of Clinical Child and Adolescent Psychology, 35(2):180-193, 2006), to date Stepping Stones has not been evaluated with the ASD population. Fifty-nine families with a child with ASD aged between 2 and 9 participated in this randomized controlled trial. The results demonstrate significant improvements in parental reports of child behaviour and parenting styles with the treatment effects for child behaviour, parental over reactivity and parental verbosity being maintained at follow-up 6 months later. Further, the results suggest significant improvements in parental satisfaction and conflict about parenting as well as a sleeper effect for parental efficacy. The results indicate that Stepping Stones Triple P is a promising intervention for parents of children with ASD. Limitations and future research are also addressed.

34. Zwaigenbaum L, Bryson S, Lord C, Rogers S, Carter A, Carver L, Chawarska K, Constantino J, Dawson G, Dobkins K, Fein D, Iverson J, Klin A, Landa R, Messinger D, Ozonoff S, Sigman M, Stone W, Tager-Flusberg H, Yirmiya N. Clinical assessment and management of toddlers with suspected autism spectrum disorder : insights from studies of high-risk infants. Pediatrics ;2009 (May) ;123(5):1383-1391.

With increased public awareness of the early signs and recent American Academy of Pediatrics recommendations that all 18- and 24-month-olds be screened for autism spectrum disorders, there is an increasing need for diagnostic assessment of very young children. However, unique challenges exist in applying current diagnostic guidelines for autism spectrum disorders to children under the age of 2 years. In this article, we address challenges related to early detection, diagnosis, and treatment of autism spectrum disorders in this age group. We provide a comprehensive review of findings from recent studies on the early development of children with autism spectrum disorders, summarizing current knowledge on early signs of autism spectrum disorders, the screening properties of early detection tools, and current best practice for diagnostic assessment of autism spectrum disorders before 2 years of age. We also outline principles of effective intervention for children under the age of 2 with suspected/confirmed autism spectrum disorders. It is hoped that ongoing studies will provide an even stronger foundation for evidence-based diagnostic and intervention approaches for this critically important age group.


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