1. {{RI-CART receives $1.2 million grant to create statewide autism registry and network}}. {R I Med J (2013)};2013 (Sep);96(9):49.
2. {{Autism experts form research and advocacy consortium}}. {R I Med J (2013)};2013 (Aug);96(8):34.
3. Akechi H, Stein T, Senju A, Kikuchi Y, Tojo Y, Osanai H, Hasegawa T. {{Absence of Preferential Unconscious Processing of Eye Contact in Adolescents With Autism Spectrum Disorder}}. {Autism Res};2014 (Jun 24)
Eye contact plays an essential role in social interaction. Atypical eye contact is a diagnostic and widely reported feature of autism spectrum disorder (ASD). Here, we determined whether altered unconscious visual processing of eye contact might underlie atypical eye contact in ASD. Using continuous flash suppression (CFS), we found that typically developing (TD) adolescents detected faces with a direct gaze faster than faces with an averted gaze, indicating enhanced unconscious processing of eye contact. Critically, adolescents with ASD did not show different durations of perceptual suppression for faces with direct and averted gaze, suggesting that preferential unconscious processing of eye contact is absent in this group. In contrast, in a non-CFS control experiment, both adolescents with ASD and TD adolescents detected faces with a direct gaze faster than those with an averted gaze. Another CFS experiment confirmed that unconscious processing of non-social stimuli is intact for adolescents with ASD. These results suggest that atypical processing of eye contact in individuals with ASD could be related to a weaker initial, unconscious registration of eye contact. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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4. Chung BH, Tao VQ, Tso WW. {{Copy number variation and autism: New insights and clinical implications}}. {J Formos Med Assoc};2014 (Jul);113(7):400-408.
Genomic research can lead to discoveries of copy number variations (CNVs) which can be a susceptibility factor for autism spectrum disorder (ASD). The clinical translation is that this can improve the care of children with ASD. Chromosome microarray is now the first-tiered genetic investigation for ASD, with a detection rate exceeding conventional cytogenetics and any single gene testing. However, interpretation of the results is challenging and there is no consensus on « what » and « how much » to disclose. In this article, we will review how CNV studies have improved our understanding of ASD, the clinical applications, and related counseling issues. Future direction of autism genetic research is also discussed.
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5. Guo W, Tsujimura K, Otsuka IM, Irie K, Igarashi K, Nakashima K, Zhao X. {{VPA Alleviates Neurological Deficits and Restores Gene Expression in a Mouse Model of Rett Syndrome}}. {PLoS One};2014;9(6):e100215.
Rett syndrome (RTT) is a devastating neurodevelopmental disorder that occurs once in every 10,000-15,000 live female births. Despite intensive research, no effective cure is yet available. Valproic acid (VPA) has been used widely to treat mood disorder, epilepsy, and a growing number of other disorders. In limited clinical studies, VPA has also been used to control seizure in RTT patients with promising albeit somewhat unclear efficacy. In this study we tested the effect of VPA on the neurological symptoms of RTT and discovered that short-term VPA treatment during the symptomatic period could reduce neurological symptoms in RTT mice. We found that VPA restores the expression of a subset of genes in RTT mouse brains, and these genes clustered in neurological disease and developmental disorder networks. Our data suggest that VPA could be used as a drug to alleviate RTT symptoms.
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6. Heckman LD, Chahrour MH, Zoghbi HY. {{Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice}}. {Elife};2014 (Jun 26):e02676.
Loss of function of the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2) causes the progressive neurological disorder Rett syndrome (RTT). Conversely, duplication or triplication of Xq28 causes an equally wide-ranging progressive neurological disorder, MECP2 duplication syndrome, whose features overlap somewhat with RTT. To understand which MeCP2 functions cause toxicity in the duplication syndrome, we generated mouse models expressing endogenous Mecp2 along with a RTT-causing mutation in either the methyl-CpG binding domain (MBD) or the transcriptional repression domain (TRD). We determined that both the MBD and TRD must function for doubling MeCP2 to be toxic. Mutating the MBD reproduces the null phenotype and expressing the TRD mutant produces milder RTT phenotypes, yet both mutations are harmless when expressed with endogenous Mecp2. Surprisingly, mutating the TRD is more detrimental than deleting the entire C-terminus, indicating a dominant-negative effect on MeCP2 function, likely due to the disruption of a basic cluster.
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7. Huang JP, Cui SS, Han Y, Irva HP, Qi LH, Zhang X. {{Prevalence and Early Signs of Autism Spectrum Disorder (ASD) among 18-36 Month Old Children in Tianjin of China}}. {Biomed Environ Sci};2014 (Jun);27(6):453-461.
OBJECTIVE: The aim of this study is to estimate the prevalence of autism spectrum disorder (ASD) among 18-36 month old children in the Tianjin Municipality of China, and to identify early signs of autistic children and the predictability of each individual symptom. METHODS: A total of 8 000 children were screened to do a questionnaire based on CHAT modified to include more early signs of autism at the age of 18-36 months. Then the at-risk children were reexamined 1.5 years later and ASD children were identified based on DSM-IV. Early signs of autism were analyzed retrospectively by using discriminant function analysis performed among ASD children, children not followed up and children followed up but failing to meet ASD criteria. RESULTS: Three hundred and sixty seven children were screened as being at-risk to ASD, and 22 of them were identified as having ASD in the subsequent diagnosis. The prevalence of ASD was 27.5 per 10 000 in Tianjin of China with a male to female ratio of 4:1. Items addressing social interactions and communications had higher predictability than other items to distinguish autistic children from non-autistic ones. Pretend play, functional play, showing and reading parents’ facial expressions distinguished autistic children from those not followed up, nevertheless those followed up but failing to meet ASD criteria were not included. CONCLUSION: The prevalence of ASD found in our study was lower than that reported in some studies by western researchers. Autism has its specific symptoms, such as deficits in social awareness, social relatedness, and social referencing.
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8. Kyriakopoulos M, Stringaris A, Manolesou S, Radobuljac MD, Jacobs B, Reichenberg A, Stahl D, Simonoff E, Frangou S. {{Determination of psychosis-related clinical profiles in children with autism spectrum disorders using latent class analysis}}. {Eur Child Adolesc Psychiatry};2014 (Jun 26)
In children with autism spectrum disorders (ASD), high rates of idiosyncratic fears and anxiety reactions and thought disorder are thought to increase the risk of psychosis. The critical next step is to identify whether combinations of these symptoms can be used to categorise individual patients into ASD subclasses, and to test their relevance to psychosis. All patients with ASD (n = 84) admitted to a specialist national inpatient unit from 2003 to 2012 were rated for the presence or absence of impairment in affective regulation and anxiety (peculiar phobias, panic episodes, explosive reactions to anxiety), social deficits (social disinterest, avoidance or withdrawal and abnormal attachment) and thought disorder (disorganised or illogical thinking, bizarre fantasies, overvalued or delusional ideas). Latent class analysis of individual symptoms was conducted to identify ASD classes. External validation of these classes was performed using as a criterion the presence of hallucinations. Latent class analysis identified two distinct classes. Bizarre fears and anxiety reactions and thought disorder symptoms differentiated ASD patients into those with psychotic features (ASD-P: 51 %) and those without (ASD-NonP: 49 %). Hallucinations were present in 26 % of the ASD-P class but only 2.4 % of the ASD-NonP. Both the ASD-P and the ASD-NonP class benefited from inpatient treatment although inpatient stay was prolonged in the ASD-P class. This study provides the first empirically derived classification of ASD in relation to psychosis based on three underlying symptom dimensions, anxiety, social deficits and thought disorder. These results can be further developed by testing the reproducibility and prognostic value of the identified classes.
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9. Luo S, Huang W, Xia Q, Du Q, Wu L, Duan R. {{Mutational Analyses of the FMR1 Gene in Chinese Pediatric Population of Fragile X Suspects: Low Tolerance for Point Mutation}}. {J Child Neurol};2014 (Jun 23)
CGG repeat expansion is the most common cause of fragile X syndrome. Numerous efforts have been made to identify novel mutations in patients with intellectual disability, developmental delay, and/or autism. To evaluate the mutational spectrum in the at-risk Chinese population, 60 pediatric patients presenting fragile X traits but normal-sized CGG repeats were sequenced for all 17 exons and regulatory regions in FMR1. A c.879A>C mutation, reported to alter a neighboring splicing, was detected in a severely retarded male and his normal mother. However, the exon junction appears unaffected. A 237-kb deletion covering the entire FMR1 was identified to cause moderate intellectual disability and marked hyperactivity in an 8-year-old boy. The 5′ and 3′ breakpoints were buried in the surrounding long interspersed and short interspersed elements, respectively. In general, missense mutations do not commonly cause fragile X syndrome, whereas deletions should be considered with caution in patient referrals presenting with developmental delay and/or ordinary retardation.
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10. Marshall J, Ware R, Ziviani J, Hill RJ, Dodrill P. {{Efficacy of interventions to improve feeding difficulties in children with autism spectrum disorders: a systematic review and meta-analysis}}. {Child Care Health Dev};2014 (Jun 25)
BACKGROUND: Feeding difficulties are relatively common in children with autism spectrum disorders (ASD), but current evidence for their treatment is limited. This review systematically identifies, reviews and analyses the evidence for intervention in young children with ASD and feeding difficulties. METHODS: A comprehensive search strategy was used to identify studies from January 2000 to October 2013. Studies were included if they described interventions where the goal was to increase desirable eating behaviours or decrease undesirable eating behaviours using an experimental design, including single-subject research methodology. Studies were reviewed for descriptive information, and research quality was appraised using a formal checklist. Individual study findings were compared using Improvement Rate Difference (IRD), a method for calculating effect size in single-subject research. RESULTS: Overall, 23 papers were included. All studies reviewed had five or fewer participants, and reported on operant conditioning style intervention approaches, where the child is prompted to perform an action, and receives a contingent response. Where quality measures were not met, it was primarily due to lack of detail provided for the purposes of replication, or failure to meet social validity criteria. Meta-analysis indicated a medium-large effect size [mean = 0.69, 95% confidence interval (CI) 0.60 to 0.79] when the outcome measured was an increase in desirable behaviours (e.g. consuming food), but a small-negligible effect size (mean = 0.39, 95% CI 0.18 to 0.60) when the outcome measured was a decrease in undesirable mealtime behaviours (e.g. tantrums). Only a small proportion of studies reported outcomes in terms of increased dietary variety rather than volume of food consumed. CONCLUSIONS: The reviewed literature consisted primarily of low-level evidence. Favourable intervention outcomes were observed in terms of increasing volume, but not necessarily variety of foods consumed in young children with ASD and feeding difficulties. Further research in the form of prospective randomized trials to further demonstrate experimental effect in this area is required.
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11. Schwenck C, Freitag CM. {{Differentiation between attention-deficit/hyperactivity disorder and autism spectrum disorder by the Social Communication Questionnaire}}. {Atten Defic Hyperact Disord};2014 (Jun 26)
The differentiation of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) poses a clinical challenge. In children, overlap of psychopathological and cognitive findings has been found for both disorders. In addition, some children suffer from both disorders. The Social Communication Questionnaire (SCQ) is a screening instrument for ASD symptoms which indicates the presence of ASD in a rapid and economic way. However, validity to differentiate ASD and ADHD as differential or comorbid diagnoses has not been studied. Here, the differential validity was compared in groups of children with ASD, ADHD, ASD + ADHD, and typically developing (TD) children and IQ > 70. ROC analyses indicated an excellent differentiation between ASD and TD with ROC-AUC = .941 and between ASD + ADHD with ROC-AUC = .993. The optimal cutoff was below the originally recommended one of 15. The differentiation between children with ASD with (ROC-AUC = .982) or without ADHD (ROC-AUC = .864) and ADHD alone also showed acceptable differential validity, and here, the optimal cutoff corresponded to the recommended. Taken together, the SCQ can be recommended as a screening instrument for a first differentiation between children with ASD and typically developing children as well as children with ADHD.
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12. Siberski J, Shatil E, Siberski C, Eckroth-Bucher M, French A, Horton S, Loefflad RF, Rouse P. {{Computer-Based Cognitive Training for Individuals With Intellectual and Developmental Disabilities: Pilot Study}}. {Am J Alzheimers Dis Other Demen};2014 (Jun 24)
BACKGROUND: There is a growing focus in the United States on preserving cognitive functioning. However, individuals with intellectual and developmental disabilities (ID/DD) are not provided with opportunities to prevent cognitive decline. To investigate whether participants with ID/DD would improve in cognitive function after cognitive training, a cognitive training group (N = 11) was compared to 2 control groups, a computer games group (N = 11) and a waitlist group (N = 10) on performance on 15 cognitive functions. FINDINGS: (1) Very high adherence rates (94%) of the sample and 100% of the cognitive training group indicate that when given adequate individual support, adults with ID/DD can successfully use a cognitive stimulation program. (2) No significant between- or within-group effects were observed for cognitive training when a stringent alpha, corrected for multiple comparisons, was used. (3) Trends of improvement in cognitive function were observed for the cognitive training group.
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13. Thurm A, Manwaring SS, Swineford L, Farmer C. {{Longitudinal study of symptom severity and language in minimally verbal children with autism}}. {J Child Psychol Psychiatry};2014 (Jun 24)
BACKGROUND: A significant minority of children with autism spectrum disorder (ASD) are considered ‘minimally verbal’ due to language development stagnating at a few words. Recent developments allow for the severity of ASD symptoms to be examined using Autism Diagnostic Observation Schedule (ADOS) Social Affect (SA) and Restricted and Repetitive Behaviors (RRB) domain severity scores. The aim of the current study was to explore language outcomes in a cohort of minimally verbal children with autism evaluated through the preschool years and determine if and how ASD symptom severity in core domains predicts the development of spoken language by age 5. METHODS: The sample consisted of 70 children with autism aged 1-5 years at the first evaluation who were examined at least 1 year later, during their fifth year of age. The ADOS overall level of language item was used to categorize children as minimally verbal or having phrase speech, and the Mullen Scales of Early Learning was used as a continuous measure of expressive language. RESULTS: At Time 1, 65% (n = 47) of children in the sample were minimally verbal and by Time 2, 36% (n = 17 of 47) of them had developed phrase speech. While the Time 1 ADOS calibrated severity scores did not predict whether or not a child remained minimally verbal at Time 2, change in the SA calibrated severity score (but not RRB) was predictive of the continuous measure of expressive language. However, change in SA severity no longer predicted continuous expressive language when nonverbal cognitive ability was added to the model. CONCLUSIONS: Findings indicate that the severity of SA symptoms has some relationship with continuous language outcome, but not categorical. However, the omnipresent influence of nonverbal cognitive ability was confirmed in the current study, as the addition of it to the model rendered null the predictive utility of SA severity.
