1. {{A majority of parents accept newborn screening for fragile X}}. {Am J Med Genet A};2011 (Sep);155(9):x-xi.

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2. Bader PL, Faizi M, Kim LH, Owen SF, Tadross MR, Alfa RW, Bett GC, Tsien RW, Rasmusson RL, Shamloo M. {{Mouse model of Timothy syndrome recapitulates triad of autistic traits}}. {Proc Natl Acad Sci U S A};2011 (Aug 30)

Autism and autism spectrum disorder (ASD) typically arise from a mixture of environmental influences and multiple genetic alterations. In some rare cases, such as Timothy syndrome (TS), a specific mutation in a single gene can be sufficient to generate autism or ASD in most patients, potentially offering insights into the etiology of autism in general. Both variants of TS (the milder TS1 and the more severe TS2) arise from missense mutations in alternatively spliced exons that cause the same G406R replacement in the Ca(V)1.2 L-type calcium channel. We generated a TS2-like mouse but found that heterozygous (and homozygous) animals were not viable. However, heterozygous TS2 mice that were allowed to keep an inverted neomycin cassette (TS2-neo) survived through adulthood. We attribute the survival to lowering of expression of the G406R L-type channel via transcriptional interference, blunting deleterious effects of mutant L-type channel overactivity, and addressed potential effects of altered gene dosage by studying Ca(V)1.2 knockout heterozygotes. Here we present a thorough behavioral phenotyping of the TS2-neo mouse, capitalizing on this unique opportunity to use the TS mutation to model ASD in mice. Along with normal general health, activity, and anxiety level, TS2-neo mice showed markedly restricted, repetitive, and perseverative behavior, altered social behavior, altered ultrasonic vocalization, and enhanced tone-cued and contextual memory following fear conditioning. Our results suggest that when TS mutant channels are expressed at levels low enough to avoid fatality, they are sufficient to cause multiple, distinct behavioral abnormalities, in line with the core aspects of ASD.

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3. Bastiaansen JA, Meffert H, Hein S, Huizinga P, Ketelaars C, Pijnenborg M, Bartels A, Minderaa R, Keysers C, de Bildt A. {{Diagnosing Autism Spectrum Disorders in Adults: the Use of Autism Diagnostic Observation Schedule (ADOS) Module 4}}. {J Autism Dev Disord};2011 (Sep);41(9):1256-1266.

Autism Diagnostic Observation Schedule (ADOS) module 4 was investigated in an independent sample of high-functioning adult males with an autism spectrum disorder (ASD) compared to three specific diagnostic groups: schizophrenia, psychopathy, and typical development. ADOS module 4 proves to be a reliable instrument with good predictive value. It can adequately discriminate ASD from psychopathy and typical development, but is less specific with respect to schizophrenia due to behavioral overlap between autistic and negative symptoms. However, these groups differ on some core items and explorative analyses indicate that a revision of the algorithm in line with Gotham et al. (J Autism Dev Disord 37: 613-627, 2007) could be beneficial for discriminating ASD from schizophrenia.

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4. Ben Itzchak E, Lahat E, Zachor DA. {{Advanced parental ages and low birth weight in autism spectrum disorders–rates and effect on functioning}}. {Res Dev Disabil};2011 (Sep-Oct);32(5):1776-1781.

OBJECTIVES: (1) To assess the distribution of parental age and birth weight in a large cohort with autism spectrum disorder (ASD) and to compare them to Israeli national data. (2) To examine possible relationships between these risk factors and functioning. METHODS: The study included 529 participants diagnosed with ASD using standardized tests: the Autism Diagnosis Interview-Revised and the Autism Diagnosis Observation Schedule (ADOS). Medical, developmental and familial histories (gender, age, pregnancy and birth information, parental ages) were obtained. Autism severity was assessed using the new ADOS severity scale and adaptive skill using the Vineland Adaptive Behavior Scales. RESULTS: Advanced parental age was associated with ASD. In the older age range the percentages of mothers (35-44 y) and fathers (30-40 y) were significantly higher in the ASD cohort in comparison to the Israeli newborn data. The ASD cohort had significantly higher percentages of low birth weight (<2500 g) and very low birth weight (VLBW<1500 g) in comparison to the Israeli newborn data. Of these risk factors, only VLBW was associated with lower adaptive functioning. The group with VLBW had lower scores in daily living, socialization and motor skills in comparison to the >1500 g group. Autism severity was not associated with advanced parental age or VLBW. CONCLUSIONS: The shift in parental age distribution and birth weight in our ASD cohort suggests that the increase in ASD prevalence in recent years might be associated with novel prenatal insults. An adverse fetal course resulting in VLBW may represent a « second hit » phenomenon, causing a poorer outcome.

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5. Burkitt CC, Breau LM, Zabalia M. {{Parental assessment of pain coping in individuals with intellectual and developmental disabilities}}. {Res Dev Disabil};2011 (Sep-Oct);32(5):1564-1571.

Pain coping is thought to be the most significant behavioural contribution to the adjustment to pain. Little is known about how those with intellectual and developmental disabilities (IDD) cope with pain. We describe parental reported coping styles and how coping relates to individual factors. Seventy-seven caregivers of children and adults with IDD reported on coping styles using the Pediatric Pain Coping Inventory (PPCI), pain behaviour using the Non-Communicating Children’s Pain Checklist-Revised (NCCPC-R), illness-related interactions using the Illness Behaviour Encouragement Scale (IBES) and past pain experience using the Structured Pain Questionnaire. Scores were compared across mental ages and interactions between pain coping and the other factors were explored. A Multivariate Analysis of Variance (MANOVA) by mental age group (‘</=4 years’, ‘5-11 years’ and ‘>/=12 years’) revealed that those in the ‘5-11 years’ mental age group used more coping styles than those in the ‘</=4 years’ mental age group, and those in the ‘>/=12 years’ group used more cognitively demanding coping styles than the other two groups (F(10,130)=2.68, p=.005). Seeking Social Support (r=.39, p=.001) and Catastrophizing/Helplessness (r=.33, p<.01) coping styles were significantly related to a greater display of pain behaviour. Those with younger mental ages, who Seek Social Support or Catastrophize, also displayed more pain behaviour, which may be an attempt to seek external resources when pain is beyond their ability to deal with independently.

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6. Chung BH, Drmic I, Marshall CR, Grafodatskaya D, Carter M, Fernandez BA, Weksberg R, Roberts W, Scherer SW. {{Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder}}. {Eur J Med Genet};2011 (Sep-Oct);54(5):e516-520.

Dup(X)(p11.22-p11.23) has been shown to be associated with intellectual disability (ID, also referred to as mental retardation). Here, we characterize a 4.64 Mb de novo duplication of the same Xp11.22-p11.23 ID region in a female, but for this reference case the diagnosis was Autism Spectrum Disorder (ASD). Besides ASD, she also had very persistent trichotillomania, anxiety symptoms and some non-specific dysmorphic features. We report the detailed clinical features, as well as refine the rearrangement breakpoints of this disease-associated copy number variation region, which encompasses more than 50 genes. We propose that in addition to ID, the phenotypic spectrum associated with dup(X)(p11.22-p11.23) can include ASD, language impairment, and/or other primary psychiatric disorders.

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7. Coombs E, Brosnan M, Bryant-Waugh R, Skevington SM. {{An investigation into the relationship between eating disorder psychopathology and autistic symptomatology in a non-clinical sample}}. {Br J Clin Psychol};2011 (Sep);50(3):326-338.

Objective. Female adults with a diagnosis of anorexia nervosa (AN) have been found to score higher than healthy controls on a questionnaire that measures characteristics associated with Autism Spectrum Disorders (ASD). This research investigated the relationship between eating disorder (ED) and ASD symptomatology in a non-clinical sample, with an additional focus on prenatal testosterone (pT) levels. Design. A cross-sectional research design was used. The selected age group of both males and females allowed for a focus on early onset of ED symptomatology in both sexes. Methods. Self-reported questionnaire data from the Eating Attitudes Test (EAT-26) and the Autism Spectrum Quotient (AQ) were collected from 132 schoolchildren (61 boys, 71 girls) aged 11 to 14, with no recorded psychiatric diagnoses. Digit ratio (2D:4D) measures to index levels of pT exposure were also obtained. Results. A significant relationship between levels of ED symptomatology and ASD symptomatology was identified. Particularly strong relationships were identified between the EAT-26 and the attention to detail and communication subscales of the AQ. Few relationships were found for digit ratios. Conclusion. The results extend previous research from a sample with a diagnosis of AN to a non-clinical population. Those registering higher levels of ED symptomatology also reported higher levels of attention to detail and communication difficulties associated with ASD.

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8. Curran MP. {{Aripiprazole in the treatment of irritability associated with autistic disorder in paediatric patientsdagger: profile report}}. {CNS Drugs};2011 (Sep 1);25(9):801-802.

dagger Adapted and reproduced from the original article published in Pediatric Drugs 2011; 13 (3): 197-204.

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9. Curran S, Bolton P, Rozsnyai K, Chiocchetti A, Klauck SM, Duketis E, Poustka F, Schlitt S, Freitag CM, Lee I, Muglia P, Poot M, Staal W, de Jonge MV, Ophoff RA, Lewis C, Skuse D, Mandy W, Vassos E, Fossdal R, Magnusson P, Hreidarsson S, Saemundsen E, Stefansson H, Stefansson K, Collier D. {{No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder}}. {Am J Med Genet B Neuropsychiatr Genet};2011 (Sep);156(6):633-639.

The Autism Genome Project (AGP) Consortium recently reported genome-wide significant association between autism and an intronic single nucleotide polymorphism marker, rs4141463, within the MACROD2 gene. In the present study we attempted to replicate this finding using an independent case-control design of 1,170 cases with autism spectrum disorder (ASD) (874 of which fulfilled narrow criteria for Autism (A)) from five centers within Europe (UK, Germany, the Netherlands, Italy, and Iceland), and 35,307 controls. The combined sample size gave us a non-centrality parameter (NCP) of 11.9, with 93% power to detect allelic association of rs4141463 at an alpha of 0.05 with odds ratio of 0.84 (the best odds ratio estimate of the AGP Consortium data), and for the narrow diagnosis of autism, an NCP of 8.9 and power of 85%. Our case-control data were analyzed for association, stratified by each center, and the summary statistics were combined using the meta-analysis program, GWAMA. This resulted in an odds ratio (OR) of 1.03 (95% CI 0.944-1.133), with a P-value of 0.5 for ASD and OR of 0.99 (95% CI 0.88-1.11) with P-value = 0.85 for the Autism (A) sub-group. Therefore, this study does not provide support for the reported association between rs4141463 and autism. (c) 2011 Wiley-Liss, Inc.

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10. Davit CJ, Hundley RJ, Bacic JD, Hanson EM. {{A pilot study to improve venipuncture compliance in children and adolescents with autism spectrum disorders}}. {J Dev Behav Pediatr};2011 (Sep);32(7):521-525.

OBJECTIVE: : Medical procedures, particularly venipuncture (the puncture of a vein especially for the withdrawal of blood), can cause serious distress and behavior disturbance for many children. Noncompliance to blood draws can have significant ramifications in both research and clinical settings. The negative reactions may be exacerbated in individuals with autism spectrum disorders. Even so, there has been little research into the prevalence of the problem or effective intervention procedures. In response to these concerns, we developed and evaluated the Blood Draw Intervention Program. The program was designed to be easy to use, require little provider or family time, effectively reduce negative behaviors, and increase blood draw compliance. METHOD: : In a quasi-randomized trial over the course of approximately 18 months, 58 of 210 families with children with autism spectrum disorders participating in a larger study of phenotypic and genotypic factors reported significant concerns about blood draws and elected to use the Blood Draw Intervention Program. RESULTS: : Completion of the program increased blood draw compliance rates from 85.4% to 96.6% (odds ratio = 4.80; 95% confidence interval = 1.12, 20.59; p = .03). CONCLUSION: : Results indicate the efficacy of the program in a research setting and suggest a potential clinical application. The current intervention, unlike many others for the same or similar difficulties proposed in the past, was successful without requiring extensive time, training, or effort on the part of providers and parents or their children, nor did it require large-scale institutional changes.

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11. Ekas NV, Whitman TL. {{Adaptation to daily stress among mothers of children with an autism spectrum disorder: the role of daily positive affect}}. {J Autism Dev Disord};2011 (Sep);41(9):1202-1213.

Raising a child with an autism spectrum disorder is a challenging experience that can impact maternal well-being. Using a daily diary methodology, this study investigates (1) the relationship between stress and negative affect, and (2) the role of daily positive affect as a protective factor in the stress and negative affect relationship. Results from hierarchical linear models revealed that higher levels of stress were associated with decreased negative affect, both within and across days. Daily positive affect buffered the immediate and longer-lasting negative impact of stress on days of low to moderate levels of stress. Implications of the present study are discussed with regard to theoretical models of positive affect, the development of intervention programs, and directions for future research.

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12. El-Ansary AK, Bacha AB, Ayahdi LY. {{Relationship between chronic lead toxicity and plasma neurotransmitters in autistic patients from Saudi Arabia}}. {Clin Biochem};2011 (Sep);44(13):1116-1120.

OBJECTIVE: This study aims to clarify the relationship between blood Pb(2+) concentration as a ubiquitous environmental pollutant and plasma neurotransmitters as biochemical parameters that reflect brain function in Saudi autistic patients. METHODS: RBC’s lead content together with plasma concentration of gamma aminobutyric acid (GABA), serotonin (5HT) and dopamine (DA) were measured in 25 Saudi autistic patients and compared to 16 age-matching control samples. RESULTS: The obtained data recorded that Saudi autistic patients have a remarkable higher levels of Pb(2+) and significantly elevated levels of GABA, 5HT and DA compared to healthy subjects. ROC analysis revealed satisfactory values of specificity and sensitivity of the measured parameters. CONCLUSION: This study suggests that postnatal lead toxicity in autistic patients of Saudi Arabia could represent a causative factor in the pathogenesis of autism. Elevated GABA, 5HT and DA were discussed in relation to the chronic lead toxicity recorded in the investigated autistic samples.

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13. Engel-Yeger B, Hardal-Nasser R, Gal E. {{Sensory processing dysfunctions as expressed among children with different severities of intellectual developmental disabilities}}. {Res Dev Disabil};2011 (Sep-Oct);32(5):1770-1775.

High frequency of sensory processing dysfunctions (SPD) is prevalent among children with intellectual developmental disabilities and contributes to their maladaptive behaviors. However, the knowledge about the expressions of SPD in different levels of IDD severity is limited. As SPD may reduce adaptive responses and limit participation, this knowledge should be elaborated. The purpose of the present study was to examine the specific expressions of sensory processing among children with different severity levels of IDD. Participants were 91 children aged 4-9 years with mild, moderate severe-profound and IDD. Their parents completed the short sensory profile (SSP). According the results, SPD were manifested across all levels of IDD. Groups differed in specific behaviors related to sensory stimuli. The highest percentage of children with severe sensory processing difficulties was found among children with mild and sever IDD level. SPD may characterize children with all severity levels of IDD. Nevertheless, the probability that children with a specific IDD level will be more vulnerable to specific aspects of SPD emphasizes the need for early evaluation and intervention to address the specific sensory needs of children with different IDD levels. This may enhance their development, performance and participation in daily living.

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14. Faucz FR, Souza J, Filho AB, Sotomaior VS, Frantz E, Antoniuk S, Rosenfeld JA, Raskin S. {{Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: A locus associated with Asperger syndrome?}}. {Am J Med Genet A};2011 (Sep);155(9):2308-2310.

In the neurodevelopmentally impaired population the frequency of small supernumerary marker chromosomes (sSMC) is about 0.3%. To find the origin of a sSMC in a 4-year-old boy with Asperger syndrome (AS) a microarray-based comparative genomic hybridization (aCGH), using a 135K-feature whole-genome microarray, and Metaphase FISH analysis, was performed. The sSMC was characterized as being composed of 18.4 Mb from 19p12q13.11. Based on the size and genic content, it is expected that the partial trisomy detected is responsible for the characteristics observed in the patient. In that case it could be an indication of a novel locus associated with AS. (c) 2011 Wiley-Liss, Inc.

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15. Flores CG, Valcante G, Guter S, Zaytoun A, Wray E, Bell L, Jacob S, Lewis MH, Driscoll DJ, Cook EH, Jr., Kim SJ. {{Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome}}. {J Neurodev Disord};2011 (Sep 1)

Restricted and repetitive behavior (RRB) is a group of heterogeneous maladaptive behaviors. RRB is one of the key diagnostic features of autism spectrum disorders (ASDs) and also commonly observed in Prader-Willi syndrome (PWS). In this study, we assessed RRB using the Repetitive Behavior Scale-Revised (RBS-R) in two ASD samples (University of Illinois at Chicago [UIC] and University of Florida [UF]) and one PWS sample. We compared the RBS-R item endorsements across three ASD cohorts (UIC, UF and an ASD sample from Lam, The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables, PhD thesis, 2004), and a PWS sample. We also compared the mean RBS-R subscale/sum scores across the UIC, UF and PWS samples; across the combined ASD (UIC + UF), PWS-deletion and PWS-disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Questionnaire (SCQ) score >/=15, and PWS subgroup with a SCQ score <15. Despite the highly heterogeneous nature, the three ASD samples (UIC, UF and Lam’s) showed a similar pattern of the RBS-R endorsements, and the mean RBS-R scores were not different between the UIC and UF samples. However, higher RRB was noted in the ASD sample compared with the PWS sample, as well as in the PWS subgroup with a SCQ score >/=15 compared with the PWS subgroup with a SCQ score <15. Study limitations include a small sample size, a wide age range of our participants, and not controlling for potential covariates. A future replication study using a larger sample and further investigation into the genetic bases of overlapping ASD and RRB phenomenology are needed, given the higher RRB in the PWS subgroup with a SCQ score >/=15.

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16. Gallup GG, Jr., Hobbs DR. {{Evolutionary medicine: Bottle feeding, birth spacing, and autism}}. {Med Hypotheses};2011 (Sep);77(3):345-346.

To compensate for the high metabolic costs of lactation, the likelihood of re-impregnation shortly after childbirth is normally reduced due to hormonal changes triggered by breast feeding during the postpartum period. Nowadays, however, bottle feeding as a substitute for breast feeding precludes such changes and leads to early postpartum reinstatement of fertility. We suggest that recent data showing the risk of autism goes up dramatically as the time between pregnancies goes down [1] may be a byproduct of bottle feeding. The decision to bottle feed your last child may unwittingly put your next child at risk of being autistic.

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17. Gerber F, Bessero S, Robbiani B, Courvoisier DS, Baud MA, Traore MC, Blanco P, Giroud M, Galli Carminati G. {{Comparing residential programmes for adults with autism spectrum disorders and intellectual disability: outcomes of challenging behaviour and quality of life}}. {J Intellect Disabil Res};2011 (Sep);55(9):918-932.

Background Owing to methodological issues, little research has been conducted to examine quality of life (QoL) as a treatment outcome in autism spectrum disorders (ASD) and intellectual disabilities (ID). This study was conducted to combine QoL measures and objective observations of challenging behaviours (CB) in order to evaluate changes over time in adults with ASD and ID who were treated in two different residential programmes; we hypothesised that a decrease in CB would be related to an improved QoL. Method In a longitudinal study (45 months), we followed 31 adults with ASD and ID who had been integrated into two residential programmes [Autism Programme with a Structured Method (PAMS) vs. traditional programme for ID (No-PAMS)] for 2-19 years. QoL [Quality of Life Inventory in a Residential Environment (IQVMR)] and severity of autistic features (Childhood Autism Rating Scales) were evaluated annually. CB, as measured by the Aberrant Behaviour Checklist (ABC), including stereotypic behaviour and inappropriate speech, were repeatedly assessed every 3 months. Results Observed separately, the groups’ results were different. In the PAMS programme, stereotypic behaviour and inappropriate speech (ABC scores) significantly decreased, and the IQVMR total score increased; in contrast, in the comparison group, ABC scores did not change and the IQVMR total score decreased. In all, three mixed-effect ANCOVAs partially confirmed that the PAMS programme had an effect on CB and that QoL improvement did not directly depend on the type of programme but on reducing CB as measured by the ABC. Conclusion The PAMS programme has a positive and indirect influence on QoL by reducing CB.

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18. Geschwind DH. {{Genetics of autism spectrum disorders}}. {Trends Cogn Sci};2011 (Sep);15(9):409-416.

Characterized by a combination of abnormalities in language, social cognition and mental flexibility, autism is not a single disorder but a neurodevelopmental syndrome commonly referred to as autism spectrum disorder (ASD). Several dozen ASD susceptibility genes have been identified in the past decade, collectively accounting for 10-20% of ASD cases. These findings, although demonstrating that ASD is etiologically heterogeneous, provide important clues about its pathophysiology. Diverse genetic and genomic approaches provide evidence converging on disruption of key biological pathways, many of which are also implicated in other allied neurodevelopmental disorders. Knowing the genes involved in ASD provides us with a crucial tool to probe both the specificity of ASD and the shared neurobiological and cognitive features across what are considered clinically distinct disorders, with the goal of linking gene to brain circuits to cognitive function.

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19. Ghanizadeh A. {{Novel treatment for lead exposure in children with autism}}. {Biol Trace Elem Res};2011 (Sep);142(3):257-258.

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20. Grzadzinski R, Di Martino A, Brady E, Mairena MA, O’Neale M, Petkova E, Lord C, Castellanos FX. {{Examining Autistic Traits in Children with ADHD: Does the Autism Spectrum Extend to ADHD?}}. {J Autism Dev Disord};2011 (Sep);41(9):1178-1191.

We examined to what extent increased parent reports of autistic traits in some children with Attention Deficit Hyperactivity Disorder (ADHD) are the result of ADHD-related symptoms or qualitatively similar to the core characteristics of autism spectrum disorders (ASD). Results confirm the presence of a subgroup of children with ADHD and elevated ratings of core ASD traits (ADHD(+)) not accounted for by ADHD or behavioral symptoms. Further, analyses revealed greater oppositional behaviors, but not greater ADHD severity or anxiety, in the ADHD(+) subgroup compared to those with ADHD only. These results highlight the importance of specifically examining autistic traits in children with ADHD for better characterization in studies of the underlying physiopathology and treatment.

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21. Guerini FR, Bolognesi E, Chiappedi M, Manca S, Ghezzo A, Agliardi C, Sotgiu S, Usai S, Matteoli M, Clerici M. {{SNAP-25 single nucleotide polymorphisms are associated with hyperactivity in autism spectrum disorders}}. {Pharmacol Res};2011 (Sep);64(3):283-288.

Synaptosomal-associated protein of 25kD (SNAP-25), a protein participating in the regulation of synaptic vesicle exocytosis and in calcium homeostasis, was recently involved in neuropsychiatric conditions. Because alterations affecting the homeostasis of calcium are described in patients affected by autism spectrum disorders (ASD) we investigated a possible involvement of SNAP-25 in ASD by evaluating five SNAP-25 gene polymorphisms in a cohort of 67 ASD children. Data analyzed in relationship with clinical outcomes and compared to those of 205 healthy sex-matched children did not reveal significant differences. Further analyses nevertheless showed the presence of highly significant associations of the rs363043 (CT) genotype, localized in the intron 1 region that affects the transcription factor binding sites of the SNAP-25 gene, with both increasing CARS (p=0.001) and hyperactivity scores (p=0.006). The finding that polymorphisms of the SNAP-25 gene, a gene involved in neurotransmission and regulation of calcium homeostasis, are associated with the degree of hyperactivity in children with ASD, reinforces the hypothesis that alterations of these mechanisms play a pivotal role in the events leading to ASD-associated behavioral impairment. Modulation of these processes could result in novel therapeutic strategies.

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22. Henderson LM, Clarke PJ, Snowling MJ. {{Accessing and selecting word meaning in autism spectrum disorder}}. {J Child Psychol Psychiatry};2011 (Sep);52(9):964-973.

Background: Comprehension difficulties are commonly reported in autism spectrum disorder (ASD) but the causes of these difficulties are poorly understood. This study investigates how children with ASD access and select meanings of ambiguous words to test four hypotheses regarding the nature of their comprehension difficulties: semantic deficit, weak central coherence, reduced top-down control and inhibition deficit. Methods: The cross-modal semantic priming paradigm was used. Children heard homonym primes in isolation or as final words in sentences biased towards the subordinate meaning and then named picture targets depicting dominant or subordinate associates of homonyms. Results: When homonyms were presented in isolation, children with ASD and controls showed priming for dominant and subordinate pictures at 250ms ISI. At 1,000ms ISI, the controls showed dominant (but not subordinate) priming whilst the ASD group did not show any priming. When homonyms were presented in subordinate sentence contexts, both groups only showed priming for context-appropriate (subordinate) meanings at 250ms ISI, suggesting that context has an early influence on meaning selection. At 1,000ms ISI the controls showed context-appropriate (but not inappropriate) priming whereas the ASD group showed both appropriate and inappropriate priming. Conclusions: Children with ASD showed intact access to semantic information early in the time course of processing; however, they showed impairments in the selection of semantic representations later in processing. These findings suggest that a difficulty with initiating top-down strategies to modulate online semantic processing may compromise language comprehension in ASD. Implications for intervention are discussed.

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23. Jacquemont S, Birnbaum S, Redler S, Steinbach P, Biancalana V. {{Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency}}. {Eur J Hum Genet};2011 (Sep);19(9)

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24. Khanna R, Madhavan SS, Smith MJ, Patrick JH, Tworek C, Becker-Cottrill B. {{Assessment of health-related quality of life among primary caregivers of children with autism spectrum disorders}}. {J Autism Dev Disord};2011 (Sep);41(9):1214-1227.

The impact of caring for a child with autism on caregivers’ health-related quality of life (HRQOL) is not fully understood. The objective of this study was to compare the HRQOL scores of caregivers of children with autism to those of the general US population and to identify the factors that influence HRQOL. Caregivers of children with autism had lower HRQOL scores than the general population. Care recipient level of functional impairment, social support, use of maladaptive coping, and burden influenced caregiver mental HRQOL. Care recipient extent of behavioral problems and social support influenced caregiver physical HRQOL. Findings emphasize the use of multi-pronged intervention approach that incorporates components aimed at improving family functioning, increasing support services, and assisting caregivers in developing healthy coping skills.

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25. Kiliszek A, Kierzek R, Krzyzosiak WJ, Rypniewski W. {{Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome}}. {Nucleic Acids Res};2011 (Sep 1);39(16):7308-7315.

The CGG repeats are present in the 5′-untranslated region (5′-UTR) of the fragile X mental retardation gene FMR1 and are associated with two diseases: fragile X-associated tremor ataxia syndrome (FXTAS) and fragile X syndrome (FXS). FXTAS occurs when the number of repeats is 55-200 and FXS develops when the number exceeds 200. FXTAS is an RNA-mediated disease in which the expanded CGG tracts form stable structures and sequester important RNA binding proteins. We obtained and analysed three crystal structures of double-helical CGG repeats involving unmodified and 8-Br modified guanosine residues. Despite the presence of the non-canonical base pairs, the helices retain an A-form. In the G-G pairs one guanosine is always in the syn conformation, the other is anti. There are two hydrogen bonds between the Watson-Crick edge of G(anti) and the Hoogsteen edge of G(syn): O6.N1H and N7.N2H. The G(syn)-G(anti) pair shows affinity for binding ions in the major groove. G(syn) causes local unwinding of the helix, compensated elsewhere along the duplex. CGG helical structures appear relatively stable compared with CAG and CUG tracts. This could be an important factor in the RNA’s ligand binding affinity and specificity.

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26. Kovshoff H, Hastings RP, Remington B. {{Two-year outcomes for children with autism after the cessation of early intensive behavioral intervention}}. {Behav Modif};2011 (Sep);35(5):427-450.

Evidence from recent meta-analytic and narrative review suggests that early intensive behavioral intervention (EIBI) may improve life chances of preschool children with autism. Unfortunately, there are few data indicating whether early gains are maintained after intervention ceases. The purpose of the present study was to establish the 2-year follow-up outcome for children with autism (N = 41) who had participated in an earlier 2-year controlled comparison of EIBI. Twenty-three children in the intervention group (100% of original sample) and 18 in the treatment-as-usual comparison group (86% of original sample) were located and retested. Group differences favoring intervention substantially diluted in this period but varied significantly between subgroups who had received university-supervised and parent-commissioned interventions, favoring the latter. These groups differed in terms of their baseline characteristics and intensity of intervention. Results strongly suggest a need for better characterization of those children who would benefit from more active maintenance programs.

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27. Kunda M, Goel AK. {{Thinking in pictures as a cognitive account of autism}}. {J Autism Dev Disord};2011 (Sep);41(9):1157-1177.

We analyze the hypothesis that some individuals on the autism spectrum may use visual mental representations and processes to perform certain tasks that typically developing individuals perform verbally. We present a framework for interpreting empirical evidence related to this « Thinking in Pictures » hypothesis and then provide comprehensive reviews of data from several different cognitive tasks, including the n-back task, serial recall, dual task studies, Raven’s Progressive Matrices, semantic processing, false belief tasks, visual search, spatial recall, and visual recall. We also discuss the relationships between the Thinking in Pictures hypothesis and other cognitive theories of autism including Mindblindness, Executive Dysfunction, Weak Central Coherence, and Enhanced Perceptual Functioning.

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28. Lieberman S, Zuckerman S, Levy-Lahad E, Altarescu G. {{Conflicts regarding genetic counseling for fragile X syndrome screening: A survey of clinical geneticists and genetic counselors in Israel}}. {Am J Med Genet A};2011 (Sep);155(9):2154-2160.

Although fragile X screening has been offered in Israel since 1994, issues related to potential neurological and gynecological symptoms in carriers make counseling for fragile X different from recessive disorders. We evaluated the attitudes of clinical geneticists and genetic counselors regarding genetic counseling given to the women undergoing screening. We performed a self-administered questionnaire including 13 study questions mailed to all clinical geneticists and genetic counselors in Israel. The questions were related to counseling for women pre- and post-screening regarding themselves and the affected fetuses (including the risk for premature ovarian insufficiency; FXPOI and fragile X-associated tremor ataxia syndrome; FXTAS). Out of a total of 80 clinical geneticists and genetic counselors, 34 responded with no additional responses on e-mail re-call. There was no clear consensus for 11/13 (85%) presented questions. The most striking differences in opinion were observed for issues regarding FXTAS risk in pre-screening counseling sessions (P < 0.05). This study demonstrates that, there is no consensus on critical variables implying risk for fetus and mother and that counseling practices are dissimilar even in this small cohort of experts. We demonstrated a conflict between the detailed amount of information, which should be given prior to the test in order to allow informed decisions and the overload of information, which may cause confusion. (c) 2011 Wiley-Liss, Inc.

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29. Lugnegard T, Hallerback MU, Gillberg C. {{Psychiatric comorbidity in young adults with a clinical diagnosis of Asperger syndrome}}. {Res Dev Disabil};2011 (Sep-Oct);32(5):1910-1917.

In children with autism spectrum disorders, previous studies have shown high rates of psychiatric comorbidity. To date, studies on adults have been scarce. The aim of the present study was to investigate psychiatric comorbidity in young adults with Asperger syndrome. Participants were 26 men and 28 women (mean age 27 years) with a clinical diagnosis of Asperger syndrome. Psychiatric comorbidity was assessed by the Structured Clinical Interview for DSM-IV Axis I Disorders. IQ was measured using the Wechsler Adult Intelligence Scale, Third Edition. Autism spectrum diagnoses were confirmed using the DIagnostic Interview for Social and Communication Disorders. In our study group, 70% had experienced at least one episode of major depression, and 50% had suffered from recurrent depressive episodes. Anxiety disorders were seen in about 50%. Psychotic disorders and substance-induced disorders were uncommon. In conclusion, young adults with autism spectrum disorders are at high risk for mood and anxiety disorders. To identify these conditions and offer treatment, elevated vigilance is needed in clinical practice.

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30. Matson JL, Wilkins J, Fodstad JC. {{The Validity of the Baby and Infant Screen for Children with aUtIsm Traits: Part 1 (BISCUIT: Part 1)}}. {J Autism Dev Disord};2011 (Sep);41(9):1139-1146.

A top priority in the field of autism spectrum disorders (ASD) is the development of precise early diagnostic tools that can be completed with minimal time and training. We report on the convergent and divergent validity of the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT), specifically the BISCUIT-Part 1. Previous research with this scale has determined its reliability and sensitivity/specificity. In this study, a sample of 1,007 toddlers 17-37 months of age were assessed individually. The BISCUIT-Part 1 demonstrated good convergent validity with the Modified CHecklist for Autism in Toddlers (M-CHAT) and the Personal Social domain from the Battelle Developmental Inventory, Second Edition (BDI-2). Additionally, divergent validity was demonstrated by its small correlation with the Adaptive and Motor domains from the BDI-2.

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31. Meindl JN, Cannella-Malone HI. {{Initiating and responding to joint attention bids in children with autism: a review of the literature}}. {Res Dev Disabil};2011 (Sep-Oct);32(5):1441-1454.

Joint attention is a skill that involves coordinating the attention of at least two individuals towards an object or event. Although it is seen as a critical skill in early child development, it is frequently absent in children with autism and has been linked to poorer language outcomes for those children. As a result, multiple interventions have been developed to teach children with autism to respond to, and initiate, bids for joint attention. These interventions, however, differ widely both in terms of procedures used and in whether they focus on teaching children to respond to, or initiate, bids for joint attention. This literature review was conducted to document research gaps and intervention similarities between joint attention intervention studies for children with autism. The specific intent of this review was to determine whether researchers teach responding and initiating separately or sequentially, describe the extent to which procedures differ among studies, and identify whether social or non-social consequences are used during joint attention training. Implications for the treatment of joint attention deficits are discussed and recommendations to both researchers and practitioners are provided.

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32. Neumann N, Dubischar-Krivec AM, Poustka F, Birbaumer N, Bolte S, Braun C. {{Electromagnetic evidence of altered visual processing in autism}}. {Neuropsychologia};2011 (Sep);49(11):3011-3017.

Individuals with autism spectrum disorder (ASD) demonstrate intact or superior local processing of visual-spatial tasks. We investigated the hypothesis that in a disembedding task, autistic individuals exhibit a more local processing style than controls, which is reflected by altered electromagnetic brain activity in response to embedded stimuli and enhanced activity of early visual areas. Ten autistic and ten matched control participants underwent 151-channel whole-head magnetoencephalography. Participants were presented with 400 embedded or isolated letters (‘S’ or ‘H’) and asked to indicate which of the two letters was shown. Performance was equal in both groups, but event-related magnetic fields differed between groups in an early (100-150ms) and a later (350-400ms) time window. In the early time window, autistic individuals differed from control participants in the embedded, but not in the isolated condition, reflecting reduced processing of the irrelevant context in autistic individuals. In the later time window, amplitude differences between the embedded and isolated conditions were measured in control participants only, suggesting that « disembedding » processes were not required in autistic individuals. Source localisation indicated that activity in individuals with ASD peaked in the primary visual cortex in both conditions and time windows indicating an effortless (automatic, bottom-up) local process, whereas activity in controls peaked outside the visual cortex.

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33. Ooi YP, Rescorla L, Ang RP, Woo B, Fung DS. {{Identification of autism spectrum disorders using the child behavior checklist in singapore}}. {J Autism Dev Disord};2011 (Sep);41(9):1147-1156.

We tested the ability of the 2001 CBCL syndromes to discriminate among 86 children with Autism Spectrum Disorder (ASD), 117 children with Attention Deficit Hyperactivity Disorder-Inattentive type, 426 children with Attention Deficit Hyperactivity Disorder-Hyperactive-Impulsive or Combined type, 200 clinically referred children who did not receive a diagnosis, and 436 typically-developing children in a community sample. The Withdrawn/Depressed, Social Problems, and Thought Problems syndromes significantly discriminated the ASD group from the four other groups. An ASD scale, constructed from nine CBCL items, demonstrated moderate to high sensitivity (68 to 78%) and specificity (73 to 92%). Consistent with previous research, findings from this study provide strong support for the CBCL as a screening tool for ASD.

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34. Pacey LK, Tharmalingam S, Hampson DR. {{Subchronic Administration and Combination Metabotropic Glutamate and GABAB Receptor Drug Therapy in Fragile X Syndrome}}. {J Pharmacol Exp Ther};2011 (Sep);338(3):897-905.

The most common cause of inherited mental retardation, fragile X syndrome, results from a triplet repeat expansion in the FMR1 gene and loss of the mRNA binding protein, fragile X mental retardation protein (FMRP). In the absence of FMRP, signaling through group I metabotropic glutamate receptors (mGluRs) is enhanced. We previously proposed a mechanism whereby the audiogenic seizures exhibited by FMR1 null mice result from an imbalance in excitatory mGluR and inhibitory GABA(B) receptor (GABA(B)R) signaling (Mol Pharmacol 76:18-24, 2009). Here, we tested the mGluR5-positive allosteric modulator 3-cyano-N-(1,3-diphenyl-1H-pyrazol-5-yl)benzamide (CDPPB), the mGluR5 inverse agonist 2-methyl-6-(phenylethynyl)pyridine (MPEP), and GABA(B) receptor agonists, alone and in combination on receptor protein expression and audiogenic seizures in FMR1 mice. Single doses of MPEP (30 mg/kg), the GABA(B)R orthosteric agonist R-baclofen (1 mg/kg), or the GABA(B)R-positive allosteric modulator N,N’-dicyclopentyl-2-(methylthio)-5-nitro-4,6-pyrimidine diamine (GS-39783) (30 mg/kg), reduced the incidence of seizures. However, when administered subchronically (daily injections for 6 days), MPEP retained its anticonvulsant activity, whereas R-baclofen and GS-39783 did not. When administered at lower doses that had no effect when given alone, a single injection of MPEP plus R-baclofen also reduced seizures, but the effect was lost after subchronic administration. We were surprised to find that subchronic treatment with R-baclofen also induced tolerance to a single high dose of MPEP. These data demonstrate that tolerance develops rapidly to the antiseizure properties of R-baclofen alone and R-baclofen coadministered with MPEP, but not with MPEP alone. Our findings suggest that cross-talk between the G-protein signaling pathways of these receptors affects drug efficacy after repeated treatment.

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35. Pierce K, Carter C, Weinfeld M, Desmond J, Hazin R, Bjork R, Gallagher N. {{Detecting, studying, and treating autism early: the one-year well-baby check-up approach}}. {J Pediatr};2011 (Sep);159(3):458-465 e456.

OBJECTIVES: To determine the feasibility of implementing a broadband screen at the 1-year check-up to detect cases of autism spectrum disorders (ASD), language delay (LD), and developmental delay (DD). STUDY DESIGN: The Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist was distributed at every 1-year pediatric check-up; 137 pediatricians and 225 infants participated. Screens were scored immediately, and failures referred for further evaluation. RESULTS: Pediatricians screened 10 479 infants at the 1-year check-up; 184 infants who failed the screen were evaluated and tracked. To date, 32 infants received a provisional or final diagnosis of ASD, 56 of LD, nine of DD, and 36 of « other. » Five infants who initially tested positive for ASD no longer met criteria at follow-up. The remainder of the sample was false positive results. Positive predictive value was estimated to be .75. CONCLUSIONS: The 1-Year Well-Baby Check-Up Approach shows promise as a simple mechanism to detect cases of ASD, LD, and DD at 1 year. This procedure offers an alternative to the baby sibling design as a mechanism to study autism prospectively, the results of which will enrich our understanding of autism at an early age.

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36. Poland GA. {{MMR Vaccine and Autism: Vaccine Nihilism and Postmodern Science}}. {Mayo Clin Proc};2011 (Sep);86(9):869-871.

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37. Quintin EM, Bhatara A, Poissant H, Fombonne E, Levitin DJ. {{Emotion perception in music in high-functioning adolescents with autism spectrum disorders}}. {J Autism Dev Disord};2011 (Sep);41(9):1240-1255.

Individuals with Autism Spectrum Disorders (ASD) succeed at a range of musical tasks. The ability to recognize musical emotion as belonging to one of four categories (happy, sad, scared or peaceful) was assessed in high-functioning adolescents with ASD (N = 26) and adolescents with typical development (TD, N = 26) with comparable performance IQ, auditory working memory, and musical training and experience. When verbal IQ was controlled for, there was no significant effect of diagnostic group. Adolescents with ASD rated the intensity of the emotions similarly to adolescents with TD and reported greater confidence in their responses when they had correctly (vs. incorrectly) recognized the emotions. These findings are reviewed within the context of the amygdala theory of autism.

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38. Ratto AB, Turner-Brown L, Rupp BM, Mesibov GB, Penn DL. {{Development of the Contextual Assessment of Social Skills (CASS): A Role Play Measure of Social Skill for Individuals with High-Functioning Autism}}. {J Autism Dev Disord};2011 (Sep);41(9):1277-1286.

This study piloted a role play assessment of conversational skills for adolescents and young adults with high-functioning autism/Asperger syndrome (HFA/AS). Participants completed two semi-structured role plays, in which social context was manipulated by changing the confederate’s level of interest in the conversation. Participants’ social behavior was rated via a behavioral coding system, and performance was compared across contexts and groups. An interaction effect was found for several items, whereby control participants showed significant change across context, while participants with HFA/AS showed little or no change. Total change across contexts was significantly correlated with related social constructs and significantly predicted ASD. The findings are discussed in terms of the potential utility of the CASS in the evaluation of social skill.

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39. Reiersen AM. {{Links between autism spectrum disorder and ADHD symptom trajectories: important findings and unanswered questions}}. {J Am Acad Child Adolesc Psychiatry};2011 (Sep);50(9):857-859.

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40. Rondeau E, Klein LS, Masse A, Bodeau N, Cohen D, Guile JM. {{Is pervasive developmental disorder not otherwise specified less stable than autistic disorder? A meta-analysis}}. {J Autism Dev Disord};2011 (Sep);41(9):1267-1276.

We reviewed the stability of the diagnosis of pervasive developmental disorder not otherwise specified (PDD-NOS). A Medline search found eight studies reiterating a diagnostic assessment for PDD-NOS. The pooled group included 322 autistic disorder (AD) and 122 PDD-NOS cases. We used percentage of individuals with same diagnose at Times 1 and 2 as response criterion. The pooled Relative Risk was 1.95 (p < 0.001) showing that AD diagnostic stability was higher than PDD-NOS. When diagnosed before 36 months PDD-NOS bore a 3-year stability rate of 35%. Examining the developmental trajectories showed that PDD-NOS corresponded to a group of heterogeneous pathological conditions including prodromic forms of later AD, remitted or less severe forms of AD, and developmental delays in interaction and communication.

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41. Rossignol DA, Frye RE. {{Melatonin in autism spectrum disorders: a systematic review and meta-analysis}}. {Dev Med Child Neurol};2011 (Sep);53(9):783-792.

Aim The aim of this study was to investigate melatonin-related findings in autism spectrum disorders (ASD), including autistic disorder, Asperger syndrome, Rett syndrome, and pervasive developmental disorders, not otherwise specified. Method Comprehensive searches were conducted in the PubMed, Google Scholar, CINAHL, EMBASE, Scopus, and ERIC databases from their inception to October 2010. Two reviewers independently assessed 35 studies that met the inclusion criteria. Of these, meta-analysis was performed on five randomized double-blind, placebo-controlled studies, and the quality of these trials was assessed using the Downs and Black checklist. Results Nine studies measured melatonin or melatonin metabolites in ASD and all reported at least one abnormality, including an abnormal melatonin circadian rhythm in four studies, below average physiological levels of melatonin and/or melatonin derivates in seven studies, and a positive correlation between these levels and autistic behaviors in four studies. Five studies reported gene abnormalities that could contribute to decreased melatonin production or adversely affect melatonin receptor function in a small percentage of children with ASD. Six studies reported improved daytime behavior with melatonin use. Eighteen studies on melatonin treatment in ASD were identified; these studies reported improvements in sleep duration, sleep onset latency, and night-time awakenings. Five of these studies were randomized double-blind, placebo-controlled crossover studies; two of the studies contained blended samples of children with ASD and other developmental disorders, but only data for children with ASD were used in the meta-analysis. The meta-analysis found significant improvements with large effect sizes in sleep duration (73min compared with baseline, Hedge’s g 1.97 [95% confidence interval {CI} CI 1.10-2.84], Glass’s Delta 1.54 [95% CI 0.64-2.44]; 44min compared with placebo, Hedge’s g 1.07 [95% CI 0.49-1.65], Glass’s Delta 0.93 [95% CI 0.33-1.53]) and sleep onset latency (66min compared with baseline, Hedge’s g-2.42 [95% CI -1.67 to -3.17], Glass’s Delta-2.18 [95% CI -1.58 to -2.76]; 39min compared with placebo, Hedge’s g-2.46 [95% CI -1.96 to -2.98], Glass’s Delta-1.28 [95% CI -0.67 to -1.89]) but not in night-time awakenings. The effect size varied significantly across studies but funnel plots did not indicate publication bias. The reported side effects of melatonin were minimal to none. Some studies were affected by limitations, including small sample sizes and variability in the protocols that measured changes in sleep parameters. Interpretation Melatonin administration in ASD is associated with improved sleep parameters, better daytime behavior, and minimal side effects. Additional studies of melatonin would be helpful to confirm and expand on these findings.

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42. Ruta L, Ingudomnukul E, Taylor K, Chakrabarti B, Baron-Cohen S. {{Increased serum androstenedione in adults with autism spectrum conditions}}. {Psychoneuroendocrinology};2011 (Sep);36(8):1154-1163.

Molecular and behavioural evidence points to an association between sex-steroid hormones and autism spectrum conditions (ASC) and/or autistic traits. Prenatal androgen levels are associated with autistic traits, and several genes involved in steroidogenesis are associated with autism, Asperger Syndrome and/or autistic traits. Furthermore, higher rates of androgen-related conditions (such as Polycystic Ovary Syndrome, hirsutism, acne and hormone-related cancers) are reported in women with autism spectrum conditions. A key question therefore is if serum levels of gonadal and adrenal sex-steroids (particularly testosterone, estradiol, dehydroepiandrosterone sulfate and androstenedione) are elevated in individuals with ASC. This was tested in a total sample of n=166 participants. The final eligible sample for hormone analysis comprised n=128 participants, n=58 of whom had a diagnosis of Asperger Syndrome or high functioning autism (33 males and 25 females) and n=70 of whom were age- and IQ-matched typical controls (39 males and 31 females). ASC diagnosis (without any interaction with sex) strongly predicted androstenedione levels (p<0.01), and serum androstenedione levels were significantly elevated in the ASC group (Mann-Whitney W=2677, p=0.002), a result confirmed by permutation testing in females (permutation-corrected p=0.02). This result is discussed in terms of androstenedione being the immediate precursor of, and being converted into, testosterone, dihydrotestosterone, or estrogens in hormone-sensitive tissues and organs.

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43. Saalasti S, Tiippana K, Katsyri J, Sams M. {{The effect of visual spatial attention on audiovisual speech perception in adults with Asperger syndrome}}. {Exp Brain Res};2011 (Sep);213(2-3):283-290.

Individuals with Asperger syndrome (AS) have problems in following conversation, especially in the situations where several people are talking. This might result from impairments in audiovisual speech perception, especially from difficulties in focusing attention to speech-relevant visual information and ignoring distracting information. We studied the effect of visual spatial attention on the audiovisual speech perception of adult individuals with AS and matched control participants. Two faces were presented side by side, one uttering /aka/ and the other /ata/, while an auditory stimulus of /apa/ was played. The participants fixated on a central cross and directed their attention to the face that an arrow pointed to, reporting which consonant they heard. We hypothesized that the adults with AS would be more distracted by a competing talking face than the controls. Instead, they were able to covertly attend to the talking face, and they were as distracted by a competing face as the controls. Independently of the attentional effect, there was a qualitative difference in audiovisual speech perception: when the visual articulation was /aka/, the control participants heard /aka/ almost exclusively, while the participants with AS heard frequently /ata/. This finding may relate to difficulties in face-to-face communication in AS.

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44. Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. {{Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders}}. {Hum Mol Genet};2011 (Sep 1);20(17):3366-3375.

Autism spectrum disorders (ASDs) are a heterogeneous group of neuro-developmental disorders. While significant progress has been made in the identification of genes and copy number variants associated with syndromic autism, little is known to date about the etiology of idiopathic non-syndromic autism. Sanger sequencing of 21 known autism susceptibility genes in 339 individuals with high-functioning, idiopathic ASD revealed de novo mutations in at least one of these genes in 6 of 339 probands (1.8%). Additionally, multiple events of oligogenic heterozygosity were seen, affecting 23 of 339 probands (6.8%). Screening of a control population for novel coding variants in CACNA1C, CDKL5, HOXA1, SHANK3, TSC1, TSC2 and UBE3A by the same sequencing technology revealed that controls were carriers of oligogenic heterozygous events at significantly (P < 0.01) lower rate, suggesting oligogenic heterozygosity as a new potential mechanism in the pathogenesis of ASDs.

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45. Shih CH. {{Assisting people with developmental disabilities to improve computer pointing efficiency through Multiple Mice and Automatic Pointing Assistive Programs}}. {Res Dev Disabil};2011 (Sep-Oct);32(5):1736-1744.

This study combines multi-mice technology (people with disabilities can use standard mice, instead of specialized alternative computer input devices, to achieve complete mouse operation) with an assistive pointing function (i.e. cursor-capturing, which enables the user to move the cursor to the target center automatically), to assess whether two people with developmental disabilities would be able to improve their pointing performance through a Multiple Mice Automatic Pointing Assistive Program (MMAPAP), where driver technology is adopted to enable people with disabilities to export the remaining ability of each limb to complete the mouse operation. At the beginning of the study, both participants received their baseline sessions. Then the first participant started his intervention session. The second participant had