1. Begeer S, Meerum Terwogt M, Rieffe C, Stegge H, Olthof T, Koot HM. {{Brief report: Understanding emotional transfer in children with autism spectrum disorders}}. {Autism} (Oct 5)
The present study examined the understanding of emotional transfer in 11 children with autism, 20 children with PDD-NOS and 31 typically developing children, aged 6 to 12 years. Children were asked about their emotional responses to successive, conflicting emotional situations. All children reported that preceding emotional situations would influence their emotional response towards a successive situation. Children from the typically developing group reported a stronger influence of preceding negative versus positive emotions. However, children with autism reported equal effects of preceding positive and negative emotions, and children with PDD-NOS were relatively unaffected by the preceding emotions. These findings may indicate a scripted understanding of emotions in children with autism in contrast to a more personalized understanding of typically developing children.
2. Bertone A, Hanck J, Kogan C, Chaudhuri A, Cornish K. {{Using Perceptual Signatures to Define and Dissociate Condition-Specific Neural Etiology: Autism and Fragile X Syndrome as Model Conditions}}. {J Autism Dev Disord} (Oct 1)
The functional link between genetic alteration and behavioral end-state is rarely straightforward and never linear. Cases where neurodevlopmental conditions defined by a distinct genetic etiology share behavioral phenotypes are exemplary, as is the case for autism and Fragile X Syndrome (FXS). In this paper and its companion paper, we propose a method for assessing the functional link between genotype and neural alteration across these target conditions by comparing their perceptual signatures. In the present paper, we discuss how such signatures can be used to (1) define and differentiate various aspects of neural functioning in autism and FXS, and subsequently, (2) to infer candidate causal (genetic) mechanisms based on such signatures (see companion paper, this issue).
3. Bharti B, Bharti S. {{Clinical-statistical gap in evaluating outcome of stool patterns in young children with autistic spectrum disorder}}. {Arch Dis Child} (Sep 30)
4. Billstedt E, Gillberg IC, Gillberg C. {{Aspects of quality of life in adults diagnosed with autism in childhood: A population-based study}}. {Autism} (Oct 5)
The present study is a long-term prospective follow-up study of a population-based cohort of 120 individuals diagnosed with autism in childhood, followed into late adolescence/early adulthood. Specific aims of the study were to attempt to measure and study social aspects/quality of life in those 108 individuals with autism alive and available for study at the time of follow-up (13-22 years after original diagnosis). A newly constructed scale for rating ‘autism-friendly environment’/quality of life was used alongside a structured parent/carer interview assessing current occupation, educational history, services provided, accommodation type, and recreational activities. The majority of the group with autism remained dependent on parents/caregivers for support in education, accommodation and occupational situations. In spite of this, the estimation of the study group’s general quality of life was encouragingly positive. Nevertheless, there was an obvious need for improvements in the areas of occupation and recreational activities. Future studies need to look in more depth at the concept of an autism-friendly environment and develop more detailed quality of life assessment tools relevant for people in the autism spectrum.
5. Boisvert M, Lang R, Andrianopoulos M, Boscardin ML. {{Telepractice in the assessment and treatment of individuals with autism spectrum disorders: A systematic review}}. {Dev Neurorehabil} (Oct 1)
Objective: Studies involving the use of telepractice in the delivery of services to individuals with autism spectrum disorders (ASD) were reviewed with the intent to inform practice and identify areas for future research. Methods: Systematic searches of electronic databases, reference lists and journals identified eight studies that met pre-determined inclusion criteria. These studies were analysed and summarized in terms of the: (a) characteristics of the participants, (b) technology utilized, (c) services delivered via telepractice, (d) research methodology and (e) results of the study. Results: Telepractice was used by university-based researchers, behaviour analysts, psychiatrists and psychologists to assist caretakers and educators in the delivery of services to 46 participants with ASD. The services delivered included behavioural and diagnostic assessments, educational consulting, guidance and supervision of behavioural interventions and coaching/training in the implementation of a comprehensive early intervention programme. Conclusions: Results suggests telepractice is a promising service delivery approach in the treatment of individuals with ASD that warrants additional research. Guidelines for practitioners and potential directions for future research are discussed.
6. Constantino JN, Zhang Y, Frazier T, Abbacchi AM, Law P. {{Sibling Recurrence and the Genetic Epidemiology of Autism}}. {Am J Psychiatry} (Oct 1)
Objective: Although the symptoms of autism exhibit quantitative distributions in nature, estimates of recurrence risk in families have never previously considered or incorporated quantitative characterization of the autistic phenotype among siblings. Method: The authors report the results of quantitative characterization of 2,920 children from 1,235 families participating in a national volunteer register, with at least one child clinically affected by an autism spectrum disorder and at least one full biological sibling. Results: A traditionally defined autism spectrum disorder in an additional child occurred in 10.9% of the families. An additional 20% of nonautism-affected siblings had a history of language delay, one-half of whom exhibited autistic qualities of speech. Quantitative characterization using the Social Responsiveness Scale supported previously reported aggregation of a wide range of subclinical (quantitative) autistic traits among otherwise unaffected children in multipleincidence families and a relative absence of quantitative autistic traits among siblings in single-incidence families. Girls whose standardized severity ratings fell above a first percentile severity threshold (relative to the general population distribution) were significantly less likely to have elicited community diagnoses than their male counterparts. Conclusions: These data suggest that, depending on how it is defined, sibling recurrence in autism spectrum disorder may exceed previously published estimates and varies as a function of family type. The results support differences in mechanisms of genetic transmission between simplex and multiplex autism and advance current understanding of the genetic epidemiology of autism spectrum conditions.
7. Dodds L, Fell DB, Shea S, Armson BA, Allen AC, Bryson S. {{The Role of Prenatal, Obstetric and Neonatal Factors in the Development of Autism}}. {J Autism Dev Disord} (Oct 5)
We conducted a linked database cohort study of infants born between 1990 and 2002 in Nova Scotia, Canada. Diagnoses of autism were identified from administrative databases with relevant diagnostic information to 2005. A factor representing genetic susceptibility was defined as having an affected sibling or a mother with a history of a psychiatric or neurologic condition. Among 129,733 children, there were 924 children with an autism diagnosis. The results suggest that among those with low genetic susceptibility, some maternal and obstetric factors may have an independent role in autism etiology whereas among genetically susceptible children, these factors appear to play a lesser role. The role of pre-pregnancy obesity and excessive weight gain during pregnancy on autism risk require further investigation.
8. Haglund NG, Kallen KB. {{Risk factors for autism and Asperger syndrome: Perinatal factors and migration}}. {Autism} (Oct 5)
Using the Swedish Medical Birth Registry (MBR), obstetrical and demographic information was retrieved for 250 children with autism or Asperger syndrome who were born in Malmoe, Sweden, and enrolled at the local Child and Youth Habilitation Center. The reference group consisted of all children born in Malmoe during 1980-2005. Obstetric sub-optimality (prematurity, low Apgar scores, growth restriction, or macrosomia) was positively associated with autism but not with Asperger syndrome. Maternal birth outside the Nordic countries was positively associated with autism (adjusted OR: 2.2; 95%CI: 1.6-3.1) and negatively associated with Asperger syndrome (OR: 0.6; 95%CI: 0.3-0.97). The highest risk estimate for autism was found among children to women who were born in sub-Saharan Africa (OR: 7.3), or in East Asia (OR: 3.4).
9. Horovitz M, Matson JL. {{Communication deficits in babies and infants with autism and pervasive developmental disorder–not otherwise specified (PDD-NOS)}}. {Dev Neurorehabil} (Oct 1)
Objective: To investigate if, and in what ways, communication impairments are present in toddlers (17–37 months) diagnosed with autism and Pervasive Developmental Disorder–Not Otherwise Specified (PDD-NOS). Methods: Study 1—The scores of 20 toddlers with autism or PDD-NOS (i.e. ASD group) were compared to those of 20 typically-developing infants on the Communication sub-scale of the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT)–Part 1. Study 2—These same scores were compared between 660 toddlers who fell into three groups: autism, PDD-NOS and non-ASD-related developmentally delayed. Results: Infants with an ASD exhibited greater communication impairments than did typically-developing infants overall and on all items. Additionally, significant differences were found in overall communication impairments and the majority of individual items between all three groups in Study 2. Conclusions: Significant communication impairments are present in toddlers diagnosed with autism and PDD-NOS before 37 months.
10. Jemel B, Mimeault D, Saint-Amour D, Hosein A, Mottron L. {{VEP contrast sensitivity responses reveal reduced functional segregation of mid and high filters of visual channels in autism}}. {J Vis};10(6):13.
Despite the vast amount of behavioral data showing a pronounced tendency in individuals with autism spectrum disorder (ASD) to process fine visual details, much less is known about the neurophysiological characteristics of spatial vision in ASD. Here, we address this issue by assessing the contrast sensitivity response properties of the early visual-evoked potentials (VEPs) to sine-wave gratings of low, medium and high spatial frequencies in adults with ASD and in an age- and IQ-matched control group. Our results show that while VEP contrast responses to low and high spatial frequency gratings did not differ between ASD and controls, early VEPs to mid spatial frequency gratings exhibited similar response characteristics as those to high spatial frequency gratings in ASD. Our findings show evidence for an altered functional segregation of early visual channels, especially those responsible for processing mid- and high-frequency spatial scales.
11. Kaluzna-Czaplinska J, Michalska M, Rynkowski J. {{Determination of tryptophan in urine of autistic and healthy children by gas chromatography/mass spectrometry}}. {Med Sci Monit} (Oct 1);16(10):CR488-492.
BACKGROUND: Tryptophan is an amino acid, which is responsible for the production of serotonin in the body. Lower levels of tryptophan may play a role in pediatric disorders. In this work the urinary level of tryptophan in autistic and healthy children was compared. MATERIAL/METHODS: The samples of urine were taken from 33 autistic children (10 on a restricted diet of gluten and casein free and 23 no diet) and 21 healthy children. The level of tryptophan was determined by gas chromatography/mass spectrometry (GC/MS). In this method tryptophan was derivatized and extracted simultaneously. The method was validated. RESULTS: Significantly lower relative urinary levels of tryptophan were obtained for both autistic children with a restricted diet 1.98+/-1.17 microg/mL (mean +/-SD) and autistic children without a diet 7.44+/-1.33 microg/mL (mean +/-SD) compared to healthy children 14.24+/-2.01 microg/mL (mean +/-SD). The method has a limit of quantification (LOQ) of 0.15 microg/mL and a lower limit of detection (LOD) of 0.04 microg/mL for tryptophan in urine. CONCLUSIONS: This method is precise and sensitive for the detection of low concentrations of tryptophan and can be applicable to monitoring its level in human urine. Children with autism have a higher deficiency of tryptophan than the control group of healthy children. Lower levels of tryptophan may lead to the worsening of autistic symptoms such as mild depression and increased irritability.
12. Karkhaneh M, Clark B, Ospina MB, Seida JC, Smith V, Hartling L. {{Social StoriesTM to improve social skills in children with autism spectrum disorder: A systematic review}}. {Autism} (Oct 5)
Over the past 20 years a variety of treatments have been developed to remediate deficits associated with autism. Since the early 1990s, Social Stories have been suggested to positively affect the social development of children with autism spectrum disorder (ASD). Despite much research, there remains uncertainty regarding the effectiveness of this modality. We conducted a systematic review of the literature using pre-defined, rigorous methods. Studies were considered eligible if they were controlled trials evaluating Social Stories among persons with ASD. Two reviewers independently screened articles for inclusion, applied eligibility criteria, extracted data, and assessed methodological quality. A qualitative analysis was conducted on six eligible controlled trials. Five of the six trials showed statistically significant benefits for a variety of outcomes related to social interaction. This review underscores the need for further rigorous research and highlights some outstanding questions regarding maintenance and generalization of the benefits of Social Stories.
13. Lerner MD, Mikami AY, Levine K. {{Socio-Dramatic Affective-Relational Intervention for Adolescents With Asperger Syndrome & High Functioning Autism: Pilot Study}}. {Autism} (Oct 5)
This study examined the effectiveness of a novel intervention called ‘socio-dramatic affective-relational intervention’ (SDARI), intended to improve social skills among adolescents with Asperger syndrome and high functioning autism diagnoses. SDARI adapts dramatic training activities to focus on in vivo practice of areas of social skill deficit among this population. SDARI was administered as a six-week summer program in a community human service agency. Nine SDARI participants and eight age- and diagnosis-group matched adolescents not receiving SDARI were compared on child- and parent-report of social functioning at three week intervals beginning six weeks prior to intervention and ending six weeks post-intervention. Hierarchical Linear Modeling (HLM) was used to estimate growth trends between groups to assess treatment outcomes and post-treatment maintenance. Results indicated significant improvement and post-treatment maintenance among SDARI participants on several measures of child social functioning. Implications for practice and research are discussed.
14. Lewis MJ, Dictenberg JB. {{Genes, brain, and behavior: development gone awry in autism?: a report on the 23rd Annual International Symposium of the Center for the Study of Gene Structure and Function}}. {Ann N Y Acad Sci} (Sep);1205 Suppl 1:E21-36.
Autism and its highly variable symptomology were the themes of the 23rd Annual International Symposium of the Center for the Study of Gene Structure and Function at Hunter College in New York City, held 15 January 2010. The meeting explored the extensive research on autism from several perspectives-integrating research on genetics, neuroscience, and behavior-from researchers presenting new and innovative approaches to understanding the autism spectrum. Early diagnosis, intervention, and genetics were major themes because they are seen as essential areas in which progress is needed before the rise in numbers of cases of autism throughout the world, which some describe as approaching an epidemic, can be stemmed. Several genetic, neurobiological, and behavioral markers of autism have been identified that may ultimately provide the basis for early identification, and that presently define the key areas requiring intensive intervention.
15. McClure I, Mackay T, Mamdani H, McCaughey R. {{A comparison of a specialist autism spectrum disorder assessment team with local assessment teams}}. {Autism} (Oct 5)
Background: Early diagnosis of autism spectrum disorders (ASD) is of crucial importance, but lengthy delays are common. We examined whether this issue could be reliably addressed by local teams trained by a specialist ASD assessment team. Method: Four local teams were trained in diagnostic assessment. Their assessments of 38 children and young people using the Autism Diagnostic Observation Schedule-Generic (ADOS-G) were video recorded and independently assessed by the specialist team. Results: There was a high level of correspondence between the diagnoses of the local teams and of the specialist team. The number of assessments carried out increased and there was a considerable reduction in waiting times. Conclusion: This study has demonstrated the potential feasibility of creating local, multi-agency ASD assessment teams, which will serve to reduce waiting times, improve clinical skills at a lower level of specialism and thereby improve the overall quality of ASD services.
16. Meirsschaut M, Roeyers H, Warreyn P. {{The social interactive behaviour of young children with autism spectrum disorder and their mothers: Is there an effect of familiarity of the interaction partner?}}. {Autism} (Oct 5)
In this study the social behaviour of young children with autism spectrum disorder (ASD) and their mothers is compared within two different dyads: a dyad consisting of a mother and her own child and a dyad consisting of a mother and an unfamiliar child. Mothers did not change the frequency of their social initiatives and responsiveness with an unfamiliar child, but they became less directive than with their own child. Children with ASD did not show significantly better social behaviour with their own mother than with an unfamiliar mother. The results suggest that the social behaviour of a child with autism is not significantly enhanced by the familiarity of the social partner, but rather by the partner’s autism-adapted interaction style. Clinical implications of these findings have been discussed.
17. Noterdaeme M, Hutzelmeyer-Nickels A. {{Early symptoms and recognition of pervasive developmental disorders in Germany}}. {Autism} (Oct 5)
Pervasive developmental disorders are characterised by the presence of abnormalities in social interaction and communication as well as repetitive patterns of behaviours. Although early symptoms of the disorder often appear during the first two years of life, its diagnosis is often delayed. The purpose of this study is to analyse the delay between age at first symptoms and age at diagnosis as well as the characteristics of the first symptoms for the different subcategories of pervasive developmental disorders. The sample consists of 601 children with a diagnosis of a pervasive developmental disorder. Age at first symptoms, age at diagnosis and the type of the first problems are registered. The results show that children with autism show first symptoms at a mean age of 15 months whereas diagnosis is made at a mean age of 76 months. Children with Asperger’s syndrome show first symptoms at a mean age of 26 months, while diagnosis is made at the mean age of 110 months. There is still a large delay between the age at which parents first report first symptoms and age at diagnosis. To improve early detection, systematic screening and training of primary care paediatricians should be implemented.
18. Ramachandran R, Mitchell P, Ropar D. {{Recognizing faces based on inferred traits in autism spectrum disorders}}. {Autism} (Oct 5)
Recent findings indicate that individuals with autism spectrum disorders (ASD) could, surprisingly, infer traits from behavioural descriptions. Now we need to know whether or not individuals with ASD are able to use trait information to identify people by their faces. In this study participants with and without ASD were presented with pairs of faces each accompanied by a sentence. One sentence allowed a trait to be inferred (e.g. ‘This is Ross who smiled and said hello to everyone at the party.’) and one allowed a fact to be inferred (e.g. ‘This is Ben who has to bend down to enter most doors.’). Subsequently, the same face stimuli were presented with a single descriptive trait, fact or name cue (e.g. friendly or tall and Ross or Ben respectively in the above examples). Participants had to choose which of the faces best related to the cue word. Participants with ASD performed surprisingly well in associating traits, facts, and names to the appropriate person significantly above what would be expected by chance. Indeed, they performed as well as participants without ASD.
19. Sbacchi S, Acquadro F, Calo I, Cali F, Romano V. {{Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding}}. {Curr Genomics} (Apr);11(2):136-145.
We have used Gene Ontology (GO) and pathway analyses to uncover the common functions associated to the genes overlapping Copy Number Variants (CNVs) in autistic patients. Our source of data were four published studies [1-4]. We first applied a two-step enrichment strategy for autism-specific genes. We fished out from the four mentioned studies a list of 2928 genes overall overlapping 328 CNVs in patients and we first selected a sub-group of 2044 genes after excluding those ones that are also involved in CNVs reported in the Database of Genomic Variants (enrichment step 1). We then selected from the step 1-enriched list a sub-group of 514 genes each of which was found to be deleted or duplicated in at least two patients (enrichment step 2). The number of statistically significant processes and pathways identified by the Database for Annotation, Visualization and Integrated Discovery and Ingenuity Pathways Analysis softwares with the step 2-enriched list was significantly higher compared to the step 1-enriched list. In addition, statistically significant GO terms, biofunctions and pathways related to nervous system development and function were exclusively identified by the step 2-enriched list of genes. Interestingly, 21 genes were associated to axon growth and pathfinding. The latter genes and other ones associated to nervous system in this study represent a new set of autism candidate genes deserving further investigation. In summary, our results suggest that the autism’s « connectivity genes » in some patients affect very early phases of neurodevelopment, i.e., earlier than synaptogenesis.
20. Silverman JL, Yang M, Turner SM, Katz AM, Bell DB, Koenig JI, Crawley JN. {{Low Stress Reactivity and Neuroendocrine Factors in the BTBR T+tf/J Mouse Model of Autism}}. {Neuroscience} (Sep 30)
Autism is a neurodevelopmental disorder characterized by abnormal reciprocal social interactions, communication deficits, and repetitive behaviors with restricted interests. BTBR T+tf/J (BTBR) is an inbred mouse strain that displays robust behavioral phenotypes with analogies to all three of the diagnostic symptoms of autism, including low social interactions, reduced vocalizations in social settings, and high levels of repetitive self-grooming. Autism-relevant phenotypes in BTBR offer translational tools to discover neurochemical mechanisms underlying unusual mouse behaviors relevant to symptoms of autism. Because repetitive self-grooming in mice may be a displacement behavior elevated by stressors, we investigated neuroendocrine markers of stress and behavioral reactivity to stressors in BTBR mice, as compared to C57BL/6J, a standard inbred strain with high sociability. Radioimmunoassays replicated previous findings that circulating corticosterone is higher in the BTBR than in B6. Higher basal glucocorticoid receptor mRNA and higher oxytocin peptide levels were detected in the brains of BTBR as compared to B6. No significant differences were detected in corticotrophin releasing factor (CRF) peptide or CRF mRNA. In response to behavioral stressors, BTBR and B6 were generally similar on behavioral tasks including stress-induced hyperthermia, elevated plus-maze, light <–> dark exploration, tail flick, acoustic startle and prepulse inhibition. BTBR displayed less reactivity than B6 to a noxious thermal stimulus in the hot plate, and less immobility than B6 in both the forced swim and tail suspension depression-related tasks. BTBR, therefore, exhibited less depression-like scores than B6 on two standard tests sensitive to antidepressants, did not differ from B6 on two well-validated anxiety-like behaviors, and did not exhibit unusual stress reactivity to sensory stimuli. Our findings support the interpretation that autism-relevant social deficits, vocalizations, and repetitive behaviors are not the result of abnormal stress reactivity in the BTBR mouse model of autism.
21. Toma C, Hervas A, Balmana N, Vilella E, Aguilera F, Cusco I, Del Campo M, Caballero R, De Diego-Otero Y, Ribases M, Cormand B, Bayes M. {{Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism}}. {J Psychiatr Res} (Sep 30)
22. Whitehouse AJ, Coon H, Miller J, Salisbury B, Bishop D. {{Narrowing the broader autism phenotype: A study using the Communication Checklist – Adult Version (CC-A)}}. {Autism} (Oct 5)
This study investigated whether the Communication Checklist – Adult (CC-A) could identify subtypes of social and communication dysfunction in autism probands and their parents. The CC-A is divided into subscales measuring linguistic ability as well as two aspects of social communication: the Pragmatic Skills subscale assesses the level of pragmatic oddities (e.g. excessive talking), while the Social Engagement subscale picks up on those behaviours that reflect a more passive communication style (e.g. failure to engage in social interactions). CC-A data were collected for 69 autism probands, 238 parents of autism probands and 187 typical participants. The CC-A proved sensitive to the communication difficulties of autism probands and a proportion of their parents. The majority of parents who demonstrated the broader phenotype scored poorly on either the Pragmatic Skills or Social Engagement scale only. The Social Engagement scale was particularly sensitive to the difficulties of the parents, indicating that social-communicative passivity may be an important part of the broader autism phenotype. The findings provide evidence for the existence of more constrained pragmatic phenotypes in autism. Molecular genetic studies in this area may benefit from stratifying samples according to these phenotypes.
