1. Barbaro J, Ridgway L, Dissanayake C. {{Developmental surveillance of infants and toddlers by maternal and child health nurses in an Australian community-based setting: promoting the early identification of autism spectrum disorders}}. {J Pediatr Nurs};2011 (Aug);26(4):334-347.
Although signs of autism spectrum disorders (ASDs) are evident during the first year of life, few children are diagnosed prior to 3 years. The objective in this article is to highlight the role that primary health care professionals can play in the early identification of ASDs by briefly outlining the successful implementation of The Social Attention and Communication Study. Maternal and child health nurses were trained on the early signs of ASDs, which enabled them to identify these children prior to 2 years. The training procedure used will be outlined, and the early signs that were monitored will be explained in detail. It is recommended that routine monitoring for ASDs in infancy and toddlerhood become standard practice among all primary health care professionals.
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2. Batty M, Meaux E, Wittemeyer K, Roge B, Taylor MJ. {{Early processing of emotional faces in children with autism: An event-related potential study}}. {J Exp Child Psychol};2011 (Aug);109(4):430-444.
Social deficits are one of the most striking manifestations of autism spectrum disorders (ASDs). Among these social deficits, the recognition and understanding of emotional facial expressions has been widely reported to be affected in ASDs. We investigated emotional face processing in children with and without autism using event-related potentials (ERPs). High-functioning children with autism (n=15, mean age=10.5+/-3.3 years) completed an implicit emotional task while visual ERPs were recorded. Two groups of typically developing children (chronological age-matched and verbal equivalent age-matched [both ns=15, mean age=7.7+/-3.8 years]) also participated in this study. The early ERP responses to faces (P1 and N170) were delayed, and the P1 was smaller in children with autism than in typically developing children of the same chronological age, revealing that the first stages of emotional face processing are affected in autism. However, when matched by verbal equivalent age, only P1 amplitude remained affected in autism. Our results suggest that the emotional and facial processing difficulties in autism could start from atypicalities in visual perceptual processes involving rapid feedback to primary visual areas and subsequent holistic processing.
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3. Begeer S, Gevers C, Clifford P, Verhoeve M, Kat K, Hoddenbach E, Boer F. {{Theory of mind training in children with autism: a randomized controlled trial}}. {J Autism Dev Disord};2011 (Aug);41(8):997-1006.
Many children with Autism Spectrum Disorders (ASD) participate in social skills or Theory of Mind (ToM) treatments. However, few studies have shown evidence for their effectiveness. The current study used a randomized controlled design to test the effectiveness of a 16-week ToM treatment in 8-13 year old children with ASD and normal IQs (n = 40). The results showed that, compared to controls, the treated children with ASD improved in their conceptual ToM skills, but their elementary understanding, self reported empathic skills or parent reported social behaviour did not improve. Despite the effects on conceptual understanding, the current study does not indicate strong evidence for the effectiveness of a ToM treatment on the daily life mindreading skills.
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4. Brown AC, Mehl-Madrona L. {{Autoimmune and gastrointestinal dysfunctions: does a subset of children with autism reveal a broader connection?}}. {Expert Rev Gastroenterol Hepatol};2011 (Aug);5(4):465-477.
A large number of autoimmune disorders have a gastrointestinal (GI) dysfunction component that may interplay with genetic, hormonal, environmental and/or stress factors. This narrarive review investigates possible links between autism, immune system abnormalities and GI symptoms in a subgroup of children with autism. A literature search on Medline (1950 to September 2010) was conducted to identify relevant articles by using the keywords ‘autism and gastrointestinal’ (71 publications) and ‘autism and immune’ (237 publications), cross-referencing and general searching to evaluate the available literature on the immunological and GI aspects of autism. Sufficient evidence exists to support that a subgroup of children with autism may suffer from concomitant immune-related GI symptoms.
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5. Burnette CP, Henderson HA, Inge AP, Zahka NE, Schwartz CB, Mundy PC. {{Anterior EEG asymmetry and the modifier model of autism}}. {J Autism Dev Disord};2011 (Aug);41(8):1113-1124.
Individual differences in the expression of autism complicate research on the nature and treatment of this disorder. In the Modifier Model of Autism (Mundy et al. 2007), we proposed that individual differences in autism may result not only from syndrome specific causal processes, but also from variability in generic, non-syndrome specific modifier processes that affect the social and emotional development of all people. One study supporting this model found that measures of resting anterior EEG asymmetry, a measure reflecting complex brain processes associated with generic individual differences in approach and avoidance motivation, may help explain differences in the expression of autism in children without intellectual disabilities (Sutton et al. 2005). In the current study, we partially replicated the observation that children with autism who exhibited a pattern of left frontal EEG asymmetry tended to display milder levels of social symptoms, although in the current sample this pattern applied only to HFA children with relatively lower verbal IQs. New observations indicated that left frontal EEG asymmetry was also associated with retrospective parent reports of significantly later age of onset of symptoms, but also higher levels of self-reported outward expressions of anger as well as symptoms of obsessive compulsive disorder in school-age higher functioning children with ASD. Therefore, the results of this study provide a new and fully independent set of observations, which indicate that individual differences in anterior EEG asymmetry may significantly moderate the expression and developmental course of autism. This observation may have clinical implications for identifying meaningful diagnostic sub-groups among children with autism.
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6. Chen FS, Yoon JM. {{Brief report: broader autism phenotype predicts spontaneous reciprocity of direct gaze}}. {J Autism Dev Disord};2011 (Aug);41(8):1131-1134.
We report evidence for a relationship in the general population between self-reported autism-associated traits and the spontaneous reciprocation of direct gaze, a behavior that we propose may reflect a tendency to synchronize with social partners. Adults viewed videos of actors whose gaze was either directed towards or averted from them. Individuals with lower scores on four subscales of the Autism-Spectrum Quotient (AQ) scale showed a greater tendency to look at directed relative to averted eyes; individuals with higher scores on the AQ did not. This relationship was specific to autism-associated traits and to gaze towards the eyes; it did not generalize to a social anxiety measure or to gaze towards the mouth. We discuss implications for our understanding of the broader autism phenotype.
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7. Chien YL, Wu YY, Chiu YN, Liu SK, Tsai WC, Lin PI, Chen CH, Gau SS, Chien WH. {{Association study of the CNS patterning genes and autism in Han Chinese in Taiwan}}. {Prog Neuropsychopharmacol Biol Psychiatry};2011 (Aug 1);35(6):1512-1517.
Autism is a complex neurodevelopmental disorder with high heritability. Despite different approaches worldwide to identify susceptibility loci or genes for autism spectrum disorders (ASDs), no consistent result has been reported. CNS patterning genes have been recognized as candidate genes for autism based on neuroimage and neuropathology evidence. This study investigated four candidate genes (WNT2, EN2, SHANK3, and FOXP2) by a tag SNP approach in a family-based association study. The trio samples include 1164 subjects from 393 families, including 393 probands (aged 9.1+/-4.0years; male, 88.6%) diagnosed with autistic disorder (n=373) or Asperger’s disorder (n=20) according to the DSM-IV diagnostic criteria and confirmed by the Chinese ADI-R interview. Three tag SNPs of EN2 (7q36), 6 SNPs of WNT2 (7q31-33), 5 SNPs of SHANK3 (22q13.3), 3 SNPs of FOXP2 (7q31) were genotyped. TDT analysis was done to test the association of each tag SNP and haplotype. There was no association with autism for 17 tag SNPs of WNT2, EN2, SHANK3, and FOXP2 based on SNP analyses. Haplotype analyses did not reveal significant association except for the 6 tag SNPs of WNT2 gene showing a significant association on one haplotype composed of rs2896218 and rs6950765 (G-G) (p=0.0095). Other haplotypes composed of rs2896218 and rs6950765 (G-G) were also significantly associated with autism. The present study indicates that SHANK3 may not be a critical gene for the etiology of ASDs in Han Chinese population. Inconsistent findings in EN2 and FOXP2 in the Han Chinese population need further clarification. A haplotype of WNT2 (rs2896218-rs6950765: G-G) is significantly associated with ASDs in our trios samples, this finding warrants further validation by different sample and confirmation by functional study.
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8. Cocks E, Boaden R. {{A quality framework for personalised residential supports for adults with developmental disabilities}}. {J Intellect Disabil Res};2011 (Aug);55(8):720-731.
Background The Personalised Residential Supports (PRS) Project provided detailed information about the nature, purposes and outcomes of PRS from the perspectives of key stakeholder groups including people with developmental disabilities, family members and service providers. Although these forms of support have developed over the past two decades, there is a dearth of empirical work that has explored the characteristics of PRS. In contrast, there is a multitude of empirical studies on congregate forms of residential support with a clear trend towards study of the characteristics of relatively small, congregate residential settings. Methods Personalised Residential Supports was conceived initially in the study as having four key criteria in the support arrangements – a high degree of: individualisation; individual/family influence; informal relationships; and, person-centredness. Four methods of data collection were used to develop a descriptive framework for PRS: a review of empirical and descriptive literature that met inclusion criteria; case studies carried out over 2 years of six adults whose living arrangements met the initial PRS criteria; a focus group of adults with developmental disabilities; and, a series of written surveys of 18 people who were ‘experts’ in their experience and knowledge of PRS-type support arrangements. The latter group included family members, service providers and policymakers. Each dataset was analysed separately and independently by the authors and a third researcher, followed by a process of conciliation and consensus in which the quality framework was developed. Two iterations of the expert group surveys were used to fine tune the framework. Results Qualitative analysis resulted in a PRS quality framework made up of nine themes containing 28 attributes. Descriptions of each theme and attribute are provided. The nine themes were named as: Assumptions, Leadership, My Home, One Person at a Time, Planning, Control, Support, Thriving and Social Inclusion. Conclusion This study identified the characteristics of PRS as reported by key stakeholder groups. On face value, the themes expressed in the PRS framework have relevance to all forms of supported accommodation, for many different groups of people. The research is continuing by further development of the framework that will enable its use in the evaluation of existing or planned residential support arrangements.
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9. Conson M, Salzano S, Grossi D. {{Neuropsychological functioning of an Asperger child with exceptional skill in arranging picture stories}}. {Neurocase};2011 (Aug);17(4):353-359.
A striking special ability in arranging picture stories was reported in an Asperger child (C.M.) showing an exceptional performance on Wechsler picture arrangement subtest. Neuropsychological examination did not disclose visuoperceptual and spatial defects, or working memory, attention and executive disorders, but revealed an attentional bias towards local details of complex structures. A specific assessment of C.M.’s understanding of picture stories demonstrated that, with respect to normal controls, he showed an enhanced ability to detect causal links among elements of a story. These findings provide support to the hypothesis that savantism can be related to strong systemizing in autism.
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10. Dawson G. {{Coming closer to describing the variable onset patterns in autism}}. {J Am Acad Child Adolesc Psychiatry};2011 (Aug);50(8):744-746.
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11. De Leo G, Gonzales CH, Battagiri P, Leroy G. {{A smart-phone application and a companion website for the improvement of the communication skills of children with autism: clinical rationale, technical development and preliminary results}}. {J Med Syst};2011 (Aug);35(4):703-711.
Autism is a complex neurobiological disorder that is part of a group of disorders known as autism spectrum disorders (ASD). Today, one in 150 individuals is diagnosed with autism. Lack of social interaction and problems with communication are the main characteristics displayed by children with ASD. The Picture Exchange Communication System (PECS) is a communication system where children exchange visual symbols as a form of communication. The visual symbols are laminated pictures stored in a binder. We have designed, developed and are currently testing a software application, called PixTalk which works on any Windows Mobile Smart-phone. Teachers and caregivers can access a web site and select from an online library the images to be downloaded on to the Smart-phone. Children can browse and select images to express their intentions, desires, and emotions using PixTalk. Case study results indicate that PixTalk can be used as part of ongoing therapy.
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12. Derosier ME, Swick DC, Davis NO, McMillen JS, Matthews R. {{The efficacy of a social skills group intervention for improving social behaviors in children with high functioning autism spectrum disorders}}. {J Autism Dev Disord};2011 (Aug);41(8):1033-1043.
This study tested the efficacy of a new social skills intervention, S ocial S kills GR oup IN tervention-High Functioning Autism (S.S.GRIN-HFA), designed to improve social behaviors in children with high functioning autism spectrum disorders. Fifty-five children were randomly assigned to S.S.GRIN-HFA treatment (n = 27) or control (i.e., traditional S.S.GRIN intervention; n = 28). Examination of the direction and magnitude of change in functioning revealed that children who participated in S.S.GRIN-HFA exhibited significantly greater mastery of social skill concepts compared to children in the control group. Parents of S.S.GRIN-HFA group participants reported an improved sense of social self-efficacy, whereas parents of control participants reported a decline. The advantages of a specialized intervention such as S.S.GRIN-HFA, designed specifically for children with high functioning autism spectrum disorders, are discussed.
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13. Duchesnay E, Cachia A, Boddaert N, Chabane N, Mangin JF, Martinot JL, Brunelle F, Zilbovicius M. {{Feature selection and classification of imbalanced datasets Application to PET images of children with autistic spectrum disorders}}. {Neuroimage};2011 (Aug 1);57(3):1003-1014.
Learning with discriminative methods is generally based on minimizing the misclassification of training samples, which may be unsuitable for imbalanced datasets where the recognition might be biased in favor of the most numerous class. This problem can be addressed with a generative approach, which typically requires more parameters to be determined leading to reduced performances in high dimension. In such situations, dimension reduction becomes a crucial issue. We propose a feature selection/classification algorithm based on generative methods in order to predict the clinical status of a highly imbalanced dataset made of PET scans of forty-five low-functioning children with autism spectrum disorders (ASD) and thirteen non-ASD low functioning children. ASDs are typically characterized by impaired social interaction, narrow interests, and repetitive behaviors, with a high variability in expression and severity. The numerous findings revealed by brain imaging studies suggest that ASD is associated with a complex and distributed pattern of abnormalities that makes the identification of a shared and common neuroimaging profile a difficult task. In this context, our goal is to identify the rest functional brain imaging abnormalities pattern associated with ASD and to validate its efficiency in individual classification. The proposed feature selection algorithm detected a characteristic pattern in the ASD group that included a hypoperfusion in the right Superior Temporal Sulcus (STS) and a hyperperfusion in the contralateral postcentral area. Our algorithm allowed for a significantly accurate (88%), sensitive (91%) and specific (77%) prediction of clinical category. For this imbalanced dataset, with only 13 control scans, the proposed generative algorithm outperformed other state-of-the-art discriminant methods. The high predictive power of the characteristic pattern, which has been automatically identified on whole brains without any priors, confirms previous findings concerning the role of STS in ASD. This work offers exciting possibilities for early autism detection and/or the evaluation of treatment response in individual patients.
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14. Estes A, Rivera V, Bryan M, Cali P, Dawson G. {{Discrepancies between academic achievement and intellectual ability in higher-functioning school-aged children with autism spectrum disorder}}. {J Autism Dev Disord};2011 (Aug);41(8):1044-1052.
Academic achievement patterns and their relationships with intellectual ability, social abilities, and problem behavior are described in a sample of 30 higher-functioning, 9-year-old children with autism spectrum disorder (ASD). Both social abilities and problem behavior have been found to be predictive of academic achievement in typically developing children but this has not been well studied in children with ASD. Participants were tested for academic achievement and intellectual ability at age 9. Problem behaviors were assessed through parent report and social functioning through teacher report at age 6 and 9. Significant discrepancies between children’s actual academic achievement and their expected achievement based on their intellectual ability were found in 27 of 30 (90%) children. Both lower than expected and higher than expected achievement was observed. Children with improved social skills at age 6 demonstrated higher levels of academic achievement, specifically word reading, at age 9. No relationship was found between children’s level of problem behavior and level of academic achievement. These results suggest that the large majority of higher-functioning children with ASD show discrepancies between actual achievement levels and levels predicted by their intellectual ability. In some cases, children are achieving higher than expected, whereas in others, they are achieving lower than expected. Improved social abilities may contribute to academic achievement. Future studies should further explore factors that can promote strong academic achievement, including studies that examine whether intervention to improve social functioning can support academic achievement in children with ASD.
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15. Fehr S, Bebbington A, Ellaway C, Rowe P, Leonard H, Downs J. {{Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome}}. {J Child Neurol};2011 (Aug);26(8):980-987.
The early developmental history prior to the manifestation of Rett syndrome features is of clinical interest. This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. The Australian Rett Syndrome Database and International Rett Syndrome Phenotype Database were used to source a total of 293 confirmed female subjects. Most girls learned to sit, were able to babble or use words, and approximately half learned to walk. Altered milestone attainment was associated with earlier diagnosis. There was variation in the acquisition of milestones, the age of regression, and the age of diagnosis by genotype. Most parents expressed concerns about unusual behaviors or development during infancy, and a more subtle atypical development during infancy was reported for most girls. It is important for clinicians to be aware of variable early development in Rett syndrome and that timely genetic testing is not precluded on this account.
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16. Finegold SM. {{Desulfovibrio species are potentially important in regressive autism}}. {Med Hypotheses};2011 (Aug);77(2):270-274.
Autism is a complex disorder with no specific diagnostic test so the disease is defined by its characteristics including cognitive defects, social, communication and behavioral problems, repetitive behaviors, unusual sensitivity to stimuli such as noise, restricted interests, and self stimulation. The incidence of this disease has increased remarkably in recent years and was 110/10,000 children ( approximately 1%) in multiple areas of the US in 2007. The financial burden on families and communities is enormous. In terms of predisposing factors, heredity plays a role in some subjects, but it is clear that environmental factors are also important. Environmental toxins can affect the immune system adversely. Intestinal bacteria are recognized by a few investigators as potentially important and we have proposed that certain antimicrobial drugs may be a key factor in modifying the intestinal bacterial flora adversely, selecting out potentially harmful bacteria that are normally suppressed by an intact normal intestinal flora. We had felt that clostridia in the gut might be involved in autism because they are virulent organisms and spore-formers; spores would resist antibacterial agents so that when antibiotics were discontinued the spores would germinate and by toxin production or another mechanism lead to autism. However, a recent study of ours employing the powerful pyrosequencing technique on stools of subjects with regressive autism showed that Desulfovibrio was more common in autistic subjects than in controls. We subsequently confirmed this with pilot cultural and real-time PCR studies and found siblings of autistic children had counts of Desulfovibrio that were intermediate, suggesting possible spread of the organism in the family environment. Desulfovibrio is an anaerobic bacillus that does not produce spores but is nevertheless resistant to aerobic and other adverse conditions by other mechanisms and is commonly resistant to certain antimicrobial agents (such as cephalosporins) often used to treat ear and other infections that are relatively common in childhood. This bacterium also produces important virulence factors and its physiology and metabolism position it uniquely to account for much of the pathophysiology seen in autism. If these results on Desulfovibrio are confirmed and extended in other studies, including treatment trials with appropriate agents and careful clinical and laboratory studies, this could lead to more reliable classification of autism, a diagnostic test and therapy for regressive autism, development of a vaccine for prevention and treatment of regressive autism, tailored probiotics/prebiotics, and important epidemiologic information.
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17. Fukumoto A, Hashimoto T, Mori K, Tsuda Y, Arisawa K, Kagami S. {{Head circumference and body growth in autism spectrum disorders}}. {Brain Dev};2011 (Aug);33(7):569-575.
Research has shown that there is a relationship between increased head circumference and autism spectrum disorders (ASD). This study examined this relationship during the first year of life in subjects with ASD. We compared 280 children with ASD and 609 controls. In the ASD-male group, increases were observed in head circumference from 3 to 12months, in height from 3 to 9months, and in body weight from 3 to 6 and 12months. On the other hand, in the ASD-female group increases in head circumference, in body height, and in body weight were only observed at 3months. After adjusting for height, weight, and age, only the head circumference in the male ASD group was significantly increased from 6 to 9months after birth, reaching a peak at 6months after birth. No difference was found in the female ASD group. Although body overgrowth in the ASD group also started early after birth, the increase in head circumference was more marked than that in body growth. The values of physical measurements in the first year may be useful, minimally invasive parameters for the early detection of autism in combination with observing the timing of certain behaviors such as smiling, eye contact, crawling, pointing, and joint attention.
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18. Gabis LV, Baruch YK, Jokel A, Raz R. {{Psychiatric and autistic comorbidity in fragile x syndrome across ages}}. {J Child Neurol};2011 (Aug);26(8):940-948.
Fragile X syndrome is caused by CGG trinucleotide repeat expansion within the fragile X mental retardation 1 gene, when repeat number exceeds 200. The typical psychiatric profile of fragile X syndrome patients includes cognitive and behavioral deficits, psychiatric comorbidity, and autistic characteristics. Specific psychiatric features have not yet been clarified, specifically in relationship to age and genetic characteristics. The objective of this study was to characterize psychiatric comorbidities in subjects with fragile X syndrome at different ages. Subjects with fragile X syndrome and their unaffected siblings were recruited and their parents filled out functional-behavioral and psychiatric comorbidities questionnaires. Adolescents with fragile X syndrome showed decreased prevalence of functional-behavioral deficits. Incidence and severity of most psychiatric comorbidities were lower in older subjects. Incidence of generalized anxiety disorder increased with age in the fragile X syndrome group. The typical profile of patients with fragile X syndrome changes with age. Unaffected siblings exhibit anxiety and motor tics.
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19. Gordon K, Pasco G, McElduff F, Wade A, Howlin P, Charman T. {{A communication-based intervention for nonverbal children with autism: What changes? Who benefits?}}. {J Consult Clin Psychol};2011 (Aug);79(4):447-457.
Objective: This article examines the form and function of spontaneous communication and outcome predictors in nonverbal children with autism following classroom-based intervention (Picture Exchange Communication System [PECS] training). Method: 84 children from 15 schools participated in a randomized controlled trial (RCT) of PECS (P. Howlin, R. K. Gordon, G. Pasco, A. Wade, & T. Charman, 2007). They were aged 4-10 years (73 boys). Primary outcome measure was naturalistic observation of communication in the classroom. Multilevel Poisson regression was used to test for intervention effects and outcome predictors. Results: Spontaneous communication using picture cards, speech, or both increased significantly following training (rate ratio [RR] =1.90, 95% CI [1.46, 2.48], p < .001; RR = 1.77, 95% CI [1.35, 2.32], p < .001; RR = 3.74, 95% CI [2.19, 6.37], p < .001, respectively). Spontaneous communication to request objects significantly increased (RR = 2.17, 95% CI [1.75, 2.68], p < .001), but spontaneous requesting for social purposes did not (RR = 1.34, 95% CI [0.83, 2.18], p = .237). Only the effect on spontaneous speech persisted by follow-up (9 months later). Less severe baseline autism symptomatology (lower Autism Diagnosis Observation Schedule [ADOS] score; C. Lord et al., 2000) was associated with greater increase in spontaneous speech (RR = 0.90, 95% CI [0.83, 0.98], p = .011) and less severe baseline expressive language impairment (lower ADOS item A1 score), with larger increases in spontaneous use of speech and pictures together (RR = 0.62, 95% CI [0.44, 0.88], p = .008). Conclusion: Overall, PECS appeared to enhance children’s spontaneous communication for instrumental requesting using pictures, speech, or a combination of both. Some effects of training were moderated by baseline factors. For example, PECS appears to have increased spontaneous speech in children who could talk a little at baseline. (PsycINFO Database Record (c) 2011 APA, all rights reserved).
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20. Holt R, Monaco AP. {{Links between genetics and pathophysiology in the autism spectrum disorders}}. {EMBO Mol Med};2011 (Aug);3(8):438-450.
Autism spectrum disorders (ASD) are important neuropsychiatric disorders, currently estimated to affect approximately 1% of children, with considerable emotional and financial costs. Significant collaborative effort has been made over the last 15 years in an attempt to unravel the genetic mechanisms underlying these conditions. This has led to important discoveries, both of the roles of specific genes, as well as larger scale chromosomal copy number changes. Here, we summarize some of the latest genetic findings in the field of ASD and attempt to link them with the results of pathophysiological studies to provide an overall picture of at least one of the mechanisms by which ASD may develop.
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21. Jacob S, Brune CW, Badner JA, Ernstrom K, Courchesne E, Lord C, Leventhal BL, Cook EH, Kim SJ. {{Family-based association testing of glutamate transporter genes in autism}}. {Psychiatr Genet};2011 (Aug);21(4):212-213.
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22. Kanne SM, Gerber AJ, Quirmbach LM, Sparrow SS, Cicchetti DV, Saulnier CA. {{The role of adaptive behavior in autism spectrum disorders: implications for functional outcome}}. {J Autism Dev Disord};2011 (Aug);41(8):1007-1018.
The relationship between adaptive functioning and autism symptomatology was examined in 1,089 verbal youths with ASD examining results on Vineland-II, IQ, and measures of ASD severity. Strong positive relationships were found between Vineland subscales and IQ. Vineland Composite was negatively associated with age. IQ accounted a significant amount of the variance in overall adaptive skills (55%) beyond age and ASD severity. Individuals with ASD demonstrated significant adaptive deficits and negligible associations were found between the level of autism symptomatology and adaptive behavior. The results indicate that IQ is a strong predictor of adaptive behavior, the gap between IQ and adaptive impairments decreases in lower functioning individuals with ASD, and older individuals have a greater gap between IQ and adaptive skills.
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23. Karimov CB, Moragianni VA, Cronister A, Srouji S, Petrozza J, Racowsky C, Ginsburg E, Thornton KL, Welt CK. {{Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function}}. {Hum Reprod};2011 (Aug);26(8):2077-2083.
BACKGROUND The FMR1 premutation is associated with overt primary ovarian insufficiency (POI). However, its prevalence in women with occult POI (i.e. menstrual cycles, but impaired ovarian response) has not been examined. We hypothesized that both the FMR1 premutation and intermediate allele is more frequent in infertile women with occult POI than in controls, and that a repeat length cutoff might predict occult POI. METHODS All subjects were menstruating women <42 years old and with no family history of unexplained mental retardation, autism or fragile X syndrome. Cases had occult POI defined by elevated FSH or poor response to gonadotrophin therapy (n= 535). Control subjects (n= 521) had infertility from other causes or were oocyte donors. Prevalence of the FMR1 premutation and intermediate alleles was examined and allele length was compared between controls and women with occult POI. RESULTS The frequency of the premutation (7/535 versus 1/521; P< 0.05) and intermediate alleles (17/535 versus 7/521; P< 0.05) was higher in women with occult POI than in controls. The allele with the greatest number of CGG repeats was longer in women with occult POI compared with controls (32.7 +/- 7.1 versus 31.6 +/- 4.3; P< 0.01). A receiver operating characteristic curve examining repeat length as a test for occult POI had an area of 0.56 +/- 0.02 (P< 0.01). A repeat cutoff of 45 had a specificity of 98%, but a sensitivity of only 5% to identify occult POI. The positive predictive value was only 21% for a fertility population that has approximately 22% of its patients with occult POI. CONCLUSIONS The data suggest that FMR1 premutations and intermediate alleles are increased in women with occult POI. Thus, FMR1 testing should be performed in these women as some will have fragileX-associated POI. Although the FMR1 repeat lengths were longer in women with occult POI, the data do not support the use of a repeat length cutoff to predict occult POI.
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24. Kurth F, Narr KL, Woods RP, O’Neill J, Alger JR, Caplan R, McCracken JT, Toga AW, Levitt JG. {{Diminished gray matter within the hypothalamus in autism disorder: a potential link to hormonal effects?}}. {Biol Psychiatry};2011 (Aug 1);70(3):278-282.
BACKGROUND: Subjects with autism suffer from impairments of social interaction, deviations in language usage, as well as restricted and stereotyped patterns of behavior. These characteristics are found irrespective of age, IQ, and gender of affected subjects. However, brain changes due to age, IQ, and gender might pose potential confounds in autism neuroimaging analyses. METHODS: To investigate gray matter differences in autism that are not related to these potential confounds, we performed a voxel-based morphometry analysis in 52 affected children and adolescents and 52 matched control subjects. RESULTS: We observed diminished gray matter in a region of the hypothalamus, which synthesizes the behaviorally relevant hormones oxytocin and arginine vasopressin. CONCLUSIONS: This finding provides support for further investigations of the theory of abnormal functioning of this hormonal system in autism and potentially for experimental therapeutic approaches with oxytocin and related neuropeptides.
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25. Lai G, Schneider HD, Schwarzenberger JC, Hirsch J. {{Speech Stimulation during Functional MR Imaging as a Potential Indicator of Autism}}. {Radiology};2011 (Aug);260(2):521-530.
Purpose: To determine the feasibility of applying functional magnetic resonance (MR) imaging as an objective indicator of language disability in autism by using passive speech stimulation. Materials and Methods: This prospective study was approved by the institutional review board, and informed consent was obtained from the parents or guardians of all subjects. Functional MR imaging was performed during passive presentations of prerecorded speech in 15 control subjects (mean age +/- standard deviation, 12.1 years +/- 4.3) and 12 language-impaired, age-matched autistic subjects (mean age, 12.4 years +/- 4.7). An additional 27 autistic children (mean age, 8.4 years +/- 3.1), who underwent imaging while sedated with propofol as part of routine clinical MR evaluations, were also included. Activation maps for each subject were computed by using univariate general linear model analyses. The spread (quantified as number of voxels) and amplitude of the functional MR imaging activation were then quantified within two anatomically specified regions of interest known to be involved with language: the primary auditory cortex (A1) and the superior temporal gyrus (STG). Group differences were compared by using analysis of variance, two-sample t tests, and Wilcoxon rank sum tests where appropriate. The threshold for autism was defined as 1 standard deviation below the control mean for subjects imaged in the alert state. A similar threshold was estimated for sedated autistic subjects on the basis of differences between nonsedated and sedated autistic subjects. Results: Activity in A1 did not differ between autistic and control subjects. However, mean amplitude and spread of activity in the STG differed between autistic and control subjects (P < .001). Values for 10 of the 12 (83%) nonsedated autistic subjects decreased at least 1 standard deviation below the control distribution. The threshold derived from sedation-adjusted values of the control group enabled identification of 26 of the 27 (96%) sedated autistic subjects. Conclusion: Functional MR imaging activation within the STG in response to passive speech stimulation helped differentiate autistic from control subjects, demonstrating the potential utility of functional MR imaging as an objective indicator of language impairment in autism. Future studies may lead to an early and objective indicator for autism with these methods. (c) RSNA, 2011.
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26. Laine F, Rauzy S, Tardif C, Gepner B. {{Slowing down the presentation of facial and body movements enhances imitation performance in children with severe autism}}. {J Autism Dev Disord};2011 (Aug);41(8):983-996.
Imitation deficits observed among individuals with autism could be partly explained by the excessive speed of biological movements to be perceived and then reproduced. Along with this assumption, slowing down the speed of presentation of these movements might improve their imitative performances. To test this hypothesis, 19 children with autism, 37 typically-developing children and 17 children with Down syndrome were asked to reproduce facial and body movements presented on a computer at a normal/ecological and two slowed down speeds. Our main result showed that a subgroup of individuals with severe autism better reproduced the movements when presented slowly than at the ecological speed. This finding opens a new window for comprehension and rehabilitation of perceptual and imitative deficits in autism.
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27. Lakshmi Priya MD, Geetha A. {{Level of trace elements (copper, zinc, magnesium and selenium) and toxic elements (lead and mercury) in the hair and nail of children with autism}}. {Biol Trace Elem Res};2011 (Aug);142(2):148-158.
Autism is a multi-factorial pathology observed in children with altered levels of essential and elevated levels of toxic elements. There are also studies reporting a decrease in nutritional trace elements in the hair and nail of autistic children with healthy controls; moreover, bioelements have been shown to play an important role in the central nervous system. Therefore, the purpose of the present study was to assess the levels of trace elements like copper (Cu), zinc (Zn), magnesium (Mg), and selenium (Se) and toxic elements like mercury (Hg), and lead (Pb) in the hair and nail samples of autistic children and to evaluate whether the level of these elements could be correlated with the severity of autism. The subjects of the study were 45 autistic children with different grades of severity (low (LFA), medium (MFA), and high (HFA) functioning autism) according to Childhood Autism Rating Scale, n = 15 children in each group and 50 healthy children (age and sex matched). The boys and girls ratio involved in this study was 4:1, and they were 4-12 years of age. The study observed a valid indication of Cu body burden in the autistic children. The children with different grades of autism showed high significance (p < 0.001) in the level of copper in their hair and nail samples when compared to healthy controls. The level of Cu in the autistic children could be correlated with their degree of severity (more the Cu burden severe is autism). The study showed a significant elevation (p < 0.001) in the levels of toxic metals Pb and Hg in both hair and nail samples of autistic children when compared to healthy control group. The elevation was much pronounced in LFA group subjects when compared among autistic groups MFA and HFA. The levels of trace elements Mg and Se were significantly decreased (p < 0.001) in autistic children when compared to control. The trace element Zn showed significant variation in both hair and nails of LFA group children when compared to control group and other study groups. The significant elevation in the concentration of Cu, Pb, and Hg and significant decrease in the concentration of Mg and Se observed in the hair and nail samples of autistic subjects could be well correlated with their degrees of severity.
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28. Lampi KM, Banerjee PN, Gissler M, Hinkka-Yli-Salomaki S, Huttunen J, Kulmala U, Lindroos J, Niemela S, Rihko M, Ristkari T, Saanakorpi K, Sarlin T, Sillanmaki L, McKeague IW, Surcel HM, Helenius H, Brown AS, Sourander A. {{Finnish Prenatal Study of Autism and Autism Spectrum Disorders (FIPS-A): Overview and Design}}. {J Autism Dev Disord};2011 (Aug);41(8):1090-1096.
This article presents an overview of the Finnish Prenatal Study of Autism and Autism Spectrum Disorders (FIPS-A), a new study designed to examine the relationship between prenatal serologic factors, mediating and moderating developmental antecedents, and risk of autism spectrum disorders (ASD). The FIPS-A is based on register linkages between births from 1987 to 2005 ascertained from the Finnish Medical Birth Register (FMBR) and other national registers on treatment for this group of disorders. All subjects were members of the Finnish Maternity Cohort (FMC), which consists of virtually all births in Finland from 1983 to the present, and which includes archived maternal serum samples. This study also capitalizes on other registry information, such as systematically collected data on pregnancy, prenatal and neonatal complications and manual data collection from well-child clinics providing developmental data from birth to the age of 7 years. In this paper, we describe the methods used in the FIPS-A study, including a description of the national registers, available data and case ascertainment procedures. Finally, we discuss implications of the data for future work on uncovering putative aetiologies of ASD and key strengths and limitations of the design.
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29. Malhi P, Singhi P. {{Follow up of Children with Autism Spectrum Disorders: Stability and Change in Diagnosis}}. {Indian J Pediatr};2011 (Aug);78(8):941-945.
OBJECTIVE: To assess diagnostic stability of initial autism spectrum disorder (ASD) diagnosed in children three years or less. METHODS: Participants in the study included 77 (64 boys,13 girls) children in whom a diagnosis of Autistic Disorder (AD) and Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) was made at age 3 years or less as per the DSM IV criteria. Children were recruited from the Outpatient services of the department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh. Multi-disciplinary evaluations including neurological, diagnostic, cognitive, and behavioral assessments were made. In addition, the Childhood Autism Rating Scale (CARS) was administered to assess symptom severity. Follow up was done around 4 years of age. RESULTS: At Time 1, 64 (83.11%) children were diagnosed as AD and 13 (16.88%) children with PDD-NOS. Follow up was possible in only 43 children (55.8%) at the mean age of 4 years 1 month (SD = 0.99) after a mean age interval of 1.65 years (SD = 0.95). At Time 2, 37 (86%) children were diagnosed as AD and 4 (9.3%) children were diagnosed with PDD-NOS, and 2 (4.65%) children were found to be off the ASD spectrum. The diagnosis of ASD (AD and PDD-NOS) was stable over time and 41 (95.3%) out of 43 children retained an ASD diagnosis. Looking at specific ASD diagnosis, AD diagnosis was stable for 33 out of 37 (89.18%) children and the PDD-NOS was stable for only 1 out of 6 (16.67%) children. CONCLUSIONS: An early and a stable diagnosis of ASD is possible provided there are expert clinicians available. Early detection and diagnosis of ASDs allows opportunities for children to profit more from early supports and interventions.
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30. Martineau J, Hernandez N, Hiebel L, Roche L, Metzger A, Bonnet-Brilhault F. {{Can pupil size and pupil responses during visual scanning contribute to the diagnosis of autism spectrum disorder in children?}}. {J Psychiatr Res};2011 (Aug);45(8):1077-1082.
The purpose of this study was to determine whether baseline pupil size and pupil responses during visual scanning with eye-tracking technology could discriminate children with Autism Spectrum Disorder (ASD) from mental age-matched and chronological age-matched controls. To this end, we used stimuli consisting in still color photographs presented centrally to the participant’s midline on a stimulus monitor. Each child was presented with a series of neutral faces, virtual faces (avatars) and different objects, separated by black slides. We recorded the mean pupil size and pupil size changes over time in each of the three categories of stimuli and during exposure to the black slides. Fifty-seven children participated in study (19 ASD, mean age 118 months; 19 mental age-matched controls, mean age 87 months; and 19 chronological age-matched controls, mean age 118 months). We compared the baseline pupil size and pupil responses during visual scanning among the three diagnostic groups. During the presentation of slides, the mean pupil size in the ASD group was clearly smaller than in the MA-matched and CA-matched groups. Discriminate analysis of pupil size during the presentation of black slides and slides with visual stimuli successfully predicted group membership in 72% of the participants. Group membership was correctly classified in 89% of the participants in the ASD group, in 63% in the MA-matched group and in 63% in the CA-matched group. These potential biomarkers may contribute to our understanding of the differences in neurological development in the brain in autism and could prove useful as indicators of ASD.
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31. Masino SA, Kawamura M, Jr., Plotkin LM, Svedova J, Dimario FJ, Jr., Eigsti IM. {{The relationship between the neuromodulator adenosine and behavioral symptoms of autism}}. {Neurosci Lett};2011 (Aug 1);500(1):1-5.
The neuromodulator adenosine is an endogenous sleep promoter, neuroprotector and anticonvulsant, and people with autism often suffer from sleep disruption and/or seizures. We hypothesized that increasing adenosine can decrease behavioral symptoms of autism spectrum disorders, and, based on published research, specific physiological stimuli are expected to increase brain adenosine. To test the relationship between adenosine and autism, we developed a customized parent-based questionnaire to assess child participation in activities expected to influence adenosine and quantify behavioral changes following these experiences. Parents were naive to study hypotheses and all conditions were pre-assigned. Results demonstrate significantly better behavior associated with events pre-established as predicted to increase rather than decrease or have no influence on adenosine. Understanding the physiological relationship between adenosine and autism could open new therapeutic strategies – potentially preventing seizures, improving sleep, and reducing social and behavioral dysfunction.
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32. Masliyah T, Ad-Dab’bagh Y. {{Low-Dose Risperidone-Induced Oculogyric Crises in an Adolescent Male with Autism, Tourette’s and Developmental Delay}}. {J Can Acad Child Adolesc Psychiatry};2011 (Aug);20(3):214-216.
This article will review the case of a young patient with mental retardation, autistic disorder, and Tourette Syndrome who exhibited a favourable treatment response preferentially to risperidone. His presentation, however, was complicated by an exquisite sensitivity to risperidone displayed in the form of recurrent oculogyric crises. In this article, we will outline a review of the case, a survey of the incidence and risk factors of oculogyric crises, as well as a review of the literature on risperidone sensitivity, followed by a review of alternate options for the prevention of oculogyric crises.
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33. McAleer P, Kay JW, Pollick FE, Rutherford MD. {{Erratum to: Intention Perception in High Functioning People with Autism Spectrum Disorders Using Animacy Displays Derived from Human Actions}}. {J Autism Dev Disord};2011 (Aug);41(8):1064.
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34. McAleer P, Kay JW, Pollick FE, Rutherford MD. {{Intention perception in high functioning people with autism spectrum disorders using animacy displays derived from human actions}}. {J Autism Dev Disord};2011 (Aug);41(8):1053-1063.
The perception of intent in Autism Spectrum Disorders (ASD) often relies on synthetic animacy displays. This study tests intention perception in ASD via animacy stimuli derived from human motion. Using a forced choice task, 28 participants (14 ASDs; 14 age and verbal-I.Q. matched controls) categorized displays of Chasing, Fighting, Flirting, Following, Guarding and Playing, from two viewpoints (side, overhead) in both animacy and full video displays. Detailed analysis revealed no differences between populations in accuracy, or response patterns. Collapsing across groups revealed Following and Video displays to be most accurately perceived. The stimuli and intentions used are compared to those of previous studies, and the implication of our results on the understanding of Theory of Mind in ASD is discussed.
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35. Modi ME, Young LJ. {{D-cycloserine facilitates socially reinforced learning in an animal model relevant to autism spectrum disorders}}. {Biol Psychiatry};2011 (Aug 1);70(3):298-304.
BACKGROUND: There are no drugs that specifically target the social deficits of autism spectrum disorders (ASD). This may be due to a lack of behavioral paradigms in animal models relevant to ASD. Partner preference formation in the prairie vole represents a social cognitive process involving socially reinforced learning. D-cycloserine (DCS) is a cognitive enhancer that acts at the N-methyl-D-aspartate receptor to promote learning. If DCS enhances socially reinforced learning in the partner preference paradigm, it may be useful in combination with behavioral therapies for enhancing social functioning in ASD. METHODS: Female prairie and meadow voles were given DCS either peripherally or directly into one of three brain regions: nucleus accumbens, amygdala, or caudate putamen. Subjects were then cohabited with a male vole under conditions that do not typically yield a partner preference. The development of a preference for that stimulus male vole over a novel male vole was assessed using a partner preference test. RESULTS: A low dose of DCS administered peripherally enhanced preference formation in prairie voles but not meadow voles under conditions in which it would not otherwise occur. These effects were replicated in prairie voles by microinfusions of DCS into the nucleus accumbens, which is involved in reinforcement learning, and the amygdala, which is involved in social information processing. CONCLUSIONS: Partner preference in the prairie vole may provide a behavioral paradigm with face, construct, and predictive validity for identifying prosocial pharmacotherapeutics. D-cycloserine may be a viable treatment strategy for social deficits of ASD when paired with social behavioral therapy.
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36. Mostofsky SH, Ewen JB. {{Altered connectivity and action model formation in autism is autism}}. {Neuroscientist};2011 (Aug);17(4):437-448.
Internal action models refer to sensory-motor programs that form the brain basis for a wide range of skilled behavior and for understanding others’ actions. Development of these action models, particularly those reliant on visual cues from the external world, depends on connectivity between distant brain regions. Studies of children with autism reveal anomalous patterns of motor learning and impaired execution of skilled motor gestures. These findings robustly correlate with measures of social and communicative function, suggesting that anomalous action model formation may contribute to impaired development of social and communicative (as well as motor) capacity in autism. Examination of the pattern of behavioral findings, as well as convergent data from neuroimaging techniques, further suggests that autism-associated action model formation may be related to abnormalities in neural connectivity, particularly decreased function of long-range connections. This line of study can lead to important advances in understanding the neural basis of autism and, more critically, can be used to guide effective therapies targeted at improving social, communicative, and motor function.
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37. Naatanen R, Kujala T. {{The mismatch negativity and its magnetic equivalent: an index of language impairment or more general cognitive decline in autism?}}. {Biol Psychiatry};2011 (Aug 1);70(3):212-213.
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38. Napoli E, Ross-Inta C, Wong S, Omanska-Klusek A, Barrow C, Iwahashi C, Garcia-Arocena D, Sakaguchi D, Berry-Kravis E, Hagerman R, Hagerman PJ, Giulivi C. {{Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome}}. {Hum Mol Genet};2011 (Aug 1);20(15):3079-3092.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects individuals who are carriers of small CGG premutation expansions in the fragile X mental retardation 1 (FMR1) gene. Mitochondrial dysfunction was observed as an incipient pathological process occurring in individuals who do not display overt features of FXTAS (1). Fibroblasts from premutation carriers had lower oxidative phosphorylation capacity (35% of controls) and Complex IV activity (45%), and higher precursor-to-mature ratios (P:M) of nDNA-encoded mitochondrial proteins (3.1-fold). However, fibroblasts from carriers with FXTAS symptoms presented higher FMR1 mRNA expression (3-fold) and lower Complex V (38%) and aconitase activities (43%). Higher P:M of ATPase beta-subunit (ATPB) and frataxin were also observed in cortex from patients that died with FXTAS symptoms. Biochemical findings observed in FXTAS cells (lower mature frataxin, lower Complex IV and aconitase activities) along with common phenotypic traits shared by Friedreich’s ataxia and FXTAS carriers (e.g. gait ataxia, loss of coordination) are consistent with a defective iron homeostasis in both diseases. Higher P:M, and lower ZnT6 and mature frataxin protein expression suggested defective zinc and iron metabolism arising from altered ZnT protein expression, which in turn impairs the activity of mitochondrial Zn-dependent proteases, critical for the import and processing of cytosolic precursors, such as frataxin. In support of this hypothesis, Zn-treated fibroblasts showed a significant recovery of ATPB P:M, ATPase activity and doubling time, whereas Zn and desferrioxamine extended these recoveries and rescued Complex IV activity.
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39. Napolioni V, Persico AM, Porcelli V, Palmieri L. {{The Mitochondrial Aspartate/Glutamate Carrier AGC1 and Calcium Homeostasis: Physiological Links and Abnormalities in Autism}}. {Mol Neurobiol};2011 (Aug);44(1):83-92.
Autism spectrum disorder (ASD) is a severe, complex neurodevelopmental disorder characterized by impairments in reciprocal social interaction and communication, and restricted and stereotyped patterns of interests and behaviors. Recent evidence has unveiled an important role for calcium (Ca(2+)) signaling in the pathogenesis of ASD. Post-mortem studies of autistic brains have pointed toward abnormalities in mitochondrial function as possible downstream consequences of altered Ca(2+) signaling, abnormal synapse formation, and dysreactive immunity. SLC25A12, an ASD susceptibility gene, encodes the Ca(2+)-regulated mitochondrial aspartate-glutamate carrier, isoform 1 (AGC1). AGC1 is an important component of the malate/aspartate shuttle, a crucial system supporting oxidative phosphorylation and adenosine triphosphate (ATP) production. Here, we review the physiological roles of AGC1, its links to calcium homeostasis, and its involvement in autism pathogenesis.
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40. Oliver C, Berg K, Moss J, Arron K, Burbidge C. {{Delineation of behavioral phenotypes in genetic syndromes: characteristics of autism spectrum disorder, affect and hyperactivity}}. {J Autism Dev Disord};2011 (Aug);41(8):1019-1032.
We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4-51). ASD symptomatology was heightened in CdLS and FXS. High levels of impulsivity were seen in SMS, AS, CdCS, FXS and adults with CdLS. Negative affect was prominent in adults with CdLS, while positive affect was prominent in adults with AS and FXS. Heightened levels of overactivity and impulsivity were identified in FXS, AS and SMS while low levels were identified in PWS. These findings confirm and extend previously reported behavioral phenotypes.
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41. Otto MW. {{Expanding findings on d-cycloserine augmentation of therapeutic learning: a role for social learning relative to autism spectrum disorders?}}. {Biol Psychiatry};2011 (Aug 1);70(3):210-211.
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42. Ozonoff S, Iosif AM, Young GS, Hepburn S, Thompson M, Colombi C, Cook IC, Werner E, Goldring S, Baguio F, Rogers SJ. {{Onset patterns in autism: correspondence between home video and parent report}}. {J Am Acad Child Adolesc Psychiatry};2011 (Aug);50(8):796-806 e791.
OBJECTIVE: The onset of autism is usually conceptualized as occurring in one of two patterns, early onset or regressive. This study examined the number and shape of trajectories of symptom onset evident in coded home movies of children with autism and examined their correspondence with parent report of onset. METHOD: Four social-communicative behaviors were coded from the home video of children with autism (n = 52) or typical development (n = 23). All h
