1. Bellani M, Calderoni S, Muratori F, Brambilla P. {{Brain anatomy of autism spectrum disorders I. Focus on corpus callosum}}. {Epidemiology and psychiatric sciences}. 2013 Mar 26:1-5.
This brief review aims to examine the structural magnetic resonance imaging (sMRI) studies on corpus callosum in autism spectrum disorders (ASD) and discuss the clinical and demographic factors involved in the interpretation of results.
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2. Byers ES, Nichols S, Voyer SD. {{Challenging Stereotypes: Sexual Functioning of Single Adults with High Functioning Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2013 Mar 24.
This study examined the sexual functioning of single adults (61 men, 68 women) with high functioning autism and Asperger syndrome living in the community with and without prior relationship experience. Participants completed an on-line questionnaire assessing autism symptoms, psychological functioning, and various aspects of sexual functioning. In general participants reported positive sexual functioning. Participants without prior relationship experience were significantly younger and more likely to be male and identify as heterosexual. They reported significantly higher sexual anxiety, lower sexual arousability, lower dyadic desire, and fewer positive sexual cognitions. The men reported better sexual function than did the women in a number of areas. These results counter negative societal perceptions about the sexuality of high functioning individuals on the autism spectrum.
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3. De Jaegher H. {{Embodiment and sense-making in autism}}. {Frontiers in integrative neuroscience}. 2013;7:15.
In this article, I sketch an enactive account of autism. For the enactive approach to cognition, embodiment, experience, and social interaction are fundamental to understanding mind and subjectivity. Enaction defines cognition as sense-making: the way cognitive agents meaningfully connect with their world, based on their needs and goals as self-organizing, self-maintaining, embodied agents. In the social realm, the interactive coordination of embodied sense-making activities with others lets us participate in each other’s sense-making (social understanding = participatory sense-making). The enactive approach provides new concepts to overcome the problems of traditional functionalist accounts of autism, which can only give a piecemeal and disintegrated view because they consider cognition, communication, and perception separately, do not take embodied into account, and are methodologically individualistic. Applying the concepts of enaction to autism, I show: How embodiment and sense-making connect, i.e., how autistic particularities of moving, perceiving, and emoting relate to how people with autism make sense of their world. For instance, restricted interests or preference for detail will have certain sensorimotor correlates, as well as specific meaning for autistic people.That reduced flexibility in interactional coordination correlates with difficulties in participatory sense-making. At the same time, seemingly irrelevant « autistic behaviors » can be quite attuned to the interactive context. I illustrate this complexity in the case of echolalia. An enactive account of autism starts from the embodiment, experience, and social interactions of autistic people. Enaction brings together the sensorimotor, cognitive, social, experiential, and affective aspects of autism in a coherent framework based on a complex non-linear multi-causality. This foundation allows to build new bridges between autistic people and their often non-autistic context, and to improve quality of life prospects.
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4. Doherty E, O’Connor R, Zhang A, Lim C, Love JM, Ashton F, Claxton K, Gregersen N, George AM, Love DR. {{Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: A New Zealand perspective}}. {Molecular medicine reports}. 2013 Mar 20.
Global developmental delay (GDD) affects ~1-3% of children, many of whom will also have intellectual disability (ID). Fragile X is the major genetic cause of GDD with mental retardation (MR) in males, accounting for ~20% of all X-linked MR. As Fragile X has serious genetic implications, the overwhelming majority of developmental delay (DD) cases referred to our laboratory are concerned with the exclusion of a diagnosis of Fragile X, along with simultaneous karyotype analysis to confirm chromosome aberrations. Critically, molecular laboratories have generally experienced a falling positive detection frequency of Fragile X. In this context, the recent implementation of arraybased techno-logy has significantly increased the likelihood of detecting chromosome aberrations that underpin DD. In the current study, we report a Fragile X mutation detection frequency for DD referrals that is comparable with the falling UK detection frequencies. In addition, we find that there is a 9fold greater likelihood of detecting clinically significant chromosomal aberrations than of detecting a full Fragile X mental retardation 1 (FMR1) gene CGG repeat expansion in cases referred on the basis of DD. We propose a more efficent sequential testing algorithm that involves an initial molecular karyotype, cascading to FMR1 gene analysis in the event of a negative result.
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5. Harper A, Dyches TT, Harper J, Roper SO, South M. {{Respite Care, Marital Quality, and Stress in Parents of Children with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2013 Mar 26.
Parents of children with autism spectrum disorders (ASD) are at risk for having higher stress and lower marital quality than other parents. Survey data regarding respite care, marital quality, and daily hassles and uplifts were obtained from 101 mother-father dyads who were together raising at least one child with ASD (total # of children = 118). Number of hours of respite care was positively related to improved marital quality for both husbands and wives, such that a 1-h increase in weekly respite care was associated with a one-half standard deviation increase in marital quality. This relationship was significantly mediated by perceived daily stresses and uplifts in both husbands and wives. More respite care was associated with increased uplifts and reduced stress; increased uplifts were associated with improved marital quality; and more stress was associated with reduced marital quality. The number of children in the family was associated with greater stress, and reduced relational quality and daily uplifts. Results suggest policymakers and practitioners should develop supports for providing respite for families raising children with ASD.
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6. Kirkovski M, Enticott PG, Fitzgerald PB. {{A Review of the Role of Female Gender in Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2013 Mar 23.
This paper reviews the literature exploring gender differences associated with the clinical presentation of autism spectrum disorders (ASD). The potentially mediating effect of comorbid psychopathology, biological and neurodevelopmental implications on these gender differences is also discussed. A vastly heterogeneous condition, while females on the lower-functioning end of the spectrum appear to be more severely affected, an altered clinical manifestation of the disorder among high-functioning females may consequently result in many being un or misdiagnosed. To date, there is strong bias in the literature towards the clinical presentation of ASD in males. It is imperative that future research explores gender differences across the autism spectrum, in order to improve researchers’, clinicians’ and the publics’ understanding of this debilitating disorder.
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7. Koegel LK, Krasno AM, Taras H, Koegel RL, Frea W. {{Is Medication Information for Children with Autism Spectrum Disorder Monitored and Coordinated Across Professionals? Findings from a Teacher Survey}}. {School mental health}. 2013 Mar 1;5(1):48-57.
Prescription medications are commonly used for children with autism spectrum disorder (ASD), however, there is little research regarding how the effect of medication is monitored across settings once prescribed. The present study addressed this issue for children with ASD in school by administering a questionnaire to teachers of students with ASD who were and were not being given medication. Specifically, the questionnaire assessed the teachers’ knowledge about whether the child was being given medication, and whether behavior changes or side effects were being communicated in any way to the child’s family and prescribing physician. The results showed that for children who were being given medication, fewer than half of the teachers reported knowing the child was being given medication. For those children who were not being given medication, only 53% of the teachers reported correct information for their students. Of the teachers who knew their students were being given medication, all reported that they were not conferring with the child’s prescribing physician regarding behavioral observations or side effects. Whether teachers are blind to the medication types and dosage the students are being given or not, some type of communication to physicians about the children’s behavior at school is important. Given the importance of monitoring medication for children with ASD, implications for system change, for professionals and for funding agencies are discussed.
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8. Korkiakangas TK, Rae JP. {{Gearing up to a New Activity: How Teachers use Object Adjustments to Manage the Attention of Children with Autism}}. {Augmentative and alternative communication (Baltimore, Md : 1985)}. 2013 Mar;29(1):83-103.
Abstract Children with autism have characteristic difficulties with joint attention. In educational settings, this can present a challenge when directing a child’s attention to new objects and activities. Drawing on videotaped interactions between teachers and two children with autism recorded in Finland, we use conversation analysis to examine how teachers manage such transitions during one-to-one teaching. We show how adjusting material objects can be used to manage the child’s engagement and how these adjustments can escalate into more conspicuous actions so as to direct the child’s attention. Rather than examining participants’ use of communicational objects, we are instead concerned with practices that use task-related objects. We thereby offer an empirically grounded account of the interactional practices involved in achieving joint attention through the objects themselves.
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9. Miyahara M. {{Meta review of systematic and meta analytic reviews on movement differences, effect of movement based interventions, and the underlying neural mechanisms in autism spectrum disorder}}. {Frontiers in integrative neuroscience}. 2013;7:16.
Purposes: To identify and appraise evidence from published systematic and meta analytic reviews on (1) movement differences of individuals with autism spectrum disorders (ASD); (2) the effects of movement based interventions for ASD; (3) hypothesized underlying neural mechanisms for the movement characteristics. Methods: A meta review of published systematic and meta analytic reviews on movement differences, structural, and functional brain anomalies in ASD and the effects of movement based interventions for individuals with ASD between 1806 and October 2012. The methodological quality of the identified systematic and meta analytic reviews was independently assessed by two assessors with the assessment of multiple systematic reviews (AMSTAR). Results: The search yielded a total of 12 reviews that met the inclusion/exclusion criteria. The methodological quality of the reviews varied, but the review conclusions were similar. Although individuals with ASD generally perform less well than age-matched controls in developmental movement tasks, there are few exceptions whose movement abilities are intact. Most movement based interventions report their efficacies. However, all existing studies employ the research design that is inherently incapable of providing strong evidence, and they often fail to report the extent of psychosocial interactions within the movement interventions. The hypothesized neural mechanisms are still under development and speculative in nature. Conclusions: It is premature to designate movement disturbance as a core symptom of ASD. The effects of movement based interventions on the present ASD core symptoms need to be further validated by stronger evidence and verified theoretical mechanisms linking ASD with movement disorders.
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10. Moran MF, Foley JT, Parker ME, Weiss MJ. {{Two-legged hopping in autism spectrum disorders}}. {Frontiers in integrative neuroscience}. 2013;7:14.
Sensory processing deficits are common within autism spectrum disorders (ASD). Deficits have a heterogeneous dispersion across the spectrum and multimodal processing tasks are thought to magnify integration difficulties. Two-legged hopping in place in sync with an auditory cue (2.3, 3.0 Hz) was studied in a group of six individuals with expressive language impaired ASD (ELI-ASD) and an age-matched control group. Vertical ground reaction force data were collected and discrete Fourier transforms were utilized to determine dominant hopping cadence. Effective leg stiffness was computed through a mass-spring model representation. The ELI-ASD group were unsuccessful in matching their hopping cadence (2.21 +/- 0.30 hops.s(-1), 2.35 +/- 0.41 hops.s(-1)) to either auditory cue with greater deviations at the 3.0 Hz cue. In contrast, the control group was able to match hopping cadence (2.35 +/- 0.06 hops.s(-1), 3.02 +/- 0.10 hops.s(-1)) to either cue via an adjustment of effective leg stiffness. The ELI-ASD group demonstrated a varied response with an interquartile range (IQR) in excess of 0.5 hops.s(-1) as compared to the control group with an IQR < 0.03 hops.s(-1). Several sensorimotor mechanisms could explain the inability of participants with ELI-ASD to modulate motor output to match an external auditory cue. These results suggest that a multimodal gross motor task can (1) discriminate performance among a group of individuals with severe autism, and (2) could be a useful quantitative tool for evaluating motor performance in individuals with ASD individuals.
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11. Peeters B, Noens I, Philips EM, Kuppens S, Benninga MA. {{Autism Spectrum Disorders in Children with Functional Defecation Disorders}}. {The Journal of pediatrics}. 2013 Mar 22.
OBJECTIVE: To prospectively assess the prevalence of autism spectrum disorder (ASD) symptoms in children presenting with functional defecation disorders. STUDY DESIGN: Children (age 4-12 years) with functional constipation or functional non-retentive fecal incontinence according to the Rome III criteria referred to a specialized outpatient clinic were included. Parents completed 2 validated ASD screening questionnaires about their child; the Social Responsiveness Scale (SRS) and the Social Communication Questionnaire-Lifetime (SCQ-L). A total SRS score of >/=51 is a strong indicator for the presence of ASD. On the SCQ-L, a score of >/=15 is suggestive for ASD. RESULTS: In total, 242 patients (130 males, median age 7.9 years) were included. Of these, 91% were diagnosed with functional constipation and 9% with functional non-retentive fecal incontinence. Thirteen children (5.4%) had previously been diagnosed with ASD. Twenty-six children (11%) had both SRS and SCQ-L scores at or above cutoff points, strongly suggestive for the presence of ASD. Solely high SRS were present in 42 children (17%), whereas two children (1%) only had high SCQ-L scores. Altogether, 29% had ASD symptoms, indicated by SRS and/or SCQ-L scores at or above the cutoff values. These children were older than children without ASD symptoms and presented with a longer duration of symptoms. CONCLUSIONS: A substantial number of children (29%) presenting with a functional defecation disorder at a tertiary hospital has concomitant ASD symptoms. Clinicians should be aware of ASD symptoms in children with functional defecation disorders.
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12. Robinson EB, Lichtenstein P, Anckarsater H, Happe F, Ronald A. {{Examining and interpreting the female protective effect against autistic behavior}}. {Proc Natl Acad Sci U S A}. 2013 Mar 26;110(13):5258-62.
Male preponderance in autistic behavioral impairment has been explained in terms of a hypothetical protective effect of female sex, yet little research has tested this hypothesis empirically. If females are protected, they should require greater etiologic load to manifest the same degree of impairment as males. The objective of this analysis was to examine whether greater familial etiologic load was associated with quantitative autistic impairments in females compared with males. Subjects included 3,842 dizygotic twin pairs from the Twins Early Development Study (TEDS) and 6,040 dizygotic twin pairs from the Child and Adolescent Twin Study of Sweden (CATSS). In both samples, we compared sibling autistic traits between female and male probands, who were identified as children scoring in the top 90th and 95th percentiles of the population autistic trait distributions. In both TEDS and CATSS, siblings of female probands above the 90th percentile had significantly more autistic impairments than the siblings of male probands above the 90th percentile. The siblings of female probands above the 90th percentile also had greater categorical recurrence risk in both TEDS and CATSS. Results were similar in probands above the 95th percentile. This finding, replicated across two nationally-representative samples, suggests that female sex protects girls from autistic impairments and that girls may require greater familial etiologic load to manifest the phenotype. It provides empirical support for the hypothesis of a female protective effect against autistic behavior and can be used to inform and interpret future gene finding efforts in autism spectrum disorders.
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13. Shimmura C, Suzuki K, Iwata Y, Tsuchiya KJ, Ohno K, Matsuzaki H, Iwata K, Kameno Y, Takahashi T, Wakuda T, Nakamura K, Hashimoto K, Mori N. {{Enzymes in the glutamate-glutamine cycle in the anterior cingulate cortex in postmortem brain of subjects with autism}}. {Molecular autism}. 2013 Mar 26;4(1):6.
BACKGROUND: Accumulating evidence suggests that dysfunction in the glutamatergic system may underlie the pathophysiology of autism. The anterior cingulate cortex (ACC) has been implicated in autism as well as in glutamatergic neurotransmission. We hypothesized that alterations in the glutamate-glutamine cycle in the ACC might play a role in the pathophysiology of autism. METHODS: We performed Western blot analyses for the protein expression levels of enzymes in the glutamate-glutamine cycle, including glutamine synthetase, kidney-type glutaminase, liver-type glutaminase, and glutamate dehydrogenases 1 and 2, in the ACC of postmortem brain of individuals with autism (n = 7) and control subjects (n = 13). RESULTS: We found that the protein levels of kidney-type glutaminase, but not those of the other enzymes measured, in the ACC were significantly lower in subjects with autism than in controls. CONCLUSION: The results suggest that reduced expression of kidney-type glutaminase may account for putative alterations in glutamatergic neurotransmission in the ACC in autism.
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14. van Steensel FJ, Bogels SM, de Bruin EI. {{Psychiatric Comorbidity in Children with Autism Spectrum Disorders: A Comparison with Children with ADHD}}. {Journal of child and family studies}. 2013 Apr;22(3):368-76.
The present study was conducted with the aim to identify comorbid psychiatric disorders in children with autism spectrum disorders (ASD) (n = 40) and to compare those comorbidity rates to those in children with attention deficit hyperactivity disorder (ADHD) (n = 40). Participants were clinically referred children aged 7-18 years. DSM-IV classifications were used for the primary diagnosis (ASD/ADHD), while comorbid psychiatric disorders were assessed using a structured diagnostic interview, the structured clinical interview for DSM-IV, childhood diagnoses (KID-SCID). Twenty-three children with ASD (57.5 %) had at least one comorbid disorder, whereas 16 children with ADHD (40.0 %) were classified as having at least one comorbid disorder. No group differences were found with respect to this comorbidity rate or for the rate of comorbid externalizing disorders (ODD and/or CD). However, children with ASD had more comorbid internalizing disorders compared to children with ADHD. More specifically, children with ASD had higher rates of anxiety disorders, but not mood disorders. No associations between comorbidity and age or between comorbidity and the intelligence quotient was found. It is important for clinicians to always be aware of, and screen for, comorbidity, and to consider treatment for these comorbid disorders. In addition, research should focus on establishing valid and reliable screening tools as well as effective treatment options for these comorbid disorders.
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15. Vulchanova M, Talcott JB, Vulchanov V, Stankova M, Eshuis H. {{Morphology in autism spectrum disorders: Local processing bias and language}}. {Cognitive neuropsychology}. 2012 Oct;29(7-8):584-600.
We conducted a detailed study of a case of linguistic talent in the context of autism spectrum disorder, specifically Asperger syndrome. I.A. displays language strengths at the level of morphology and syntax. Yet, despite this grammar advantage, processing of figurative language and inferencing based on context presents a problem for him. The morphology advantage for I.A. is consistent with the weak central coherence (WCC) account of autism. From this account, the presence of a local processing bias is evident in the ways in which autistic individuals solve common problems, such as assessing similarities between objects and finding common patterns, and may therefore provide an advantage in some cognitive tasks compared to typical individuals. We extend the WCC account to language and provide evidence for a connection between the local processing bias and the acquisition of morphology and grammar.
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16. Wang H, Doering LC. {{Reversing autism by targeting downstream mTOR signaling}}. {Frontiers in cellular neuroscience}. 2013;7:28.
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17. Werling DM, Geschwind DH. {{Understanding sex bias in autism spectrum disorder}}. {Proc Natl Acad Sci U S A}. 2013 Mar 26;110(13):4868-9.
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18. Wiggins JL, Swartz JR, Martin DM, Lord C, Monk CS. {{« Serotonin transporter genotype impacts amygdala habituation in youth with autism spectrum disorders »}}. {Social cognitive and affective neuroscience}. 2013 Mar 22.
Failure of the amygdala to habituate, or decrease response intensity, to repeatedly presented faces may be one mechanism by which individuals with autism spectrum disorders (ASD) develop and maintain social symptoms. However, genetic influences on habituation in ASD have not been examined. We hypothesized that serotonin transporter-linked promoter region (5-HTTLPR) genotype affects change in amygdala response to repeated sad faces differently in individuals with ASD versus healthy controls. Forty-four youth with ASD and 65 controls aged 8-19 years were genotyped and underwent an event-related fMRI scan where they identified the gender of emotional faces presented for 250 ms. The first half of the run was compared to the second half to assess habituation. 5-HTTLPR genotype influences amygdala habituation to sad faces differently for individuals with ASD versus controls. The genotype-by-diagnosis-by-run half interaction was driven by individuals with ASD and low expressing genotypes (S/S, S/LG, and LG/LG), who trended toward sensitization (increase in amygdala activation) and whose habituation scores significantly differed from individuals with ASD and higher expressing genotypes (LA/LA, S/LA, and LA/LG) as well as controls with low expressing genotypes. Our results show that amygdala response to social stimuli in ASD, which may contribute to social symptoms, is genetically influenced.
