1. Ciccoli L, De Felice C, Leoncini S, Signorini C, Cortelazzo A, Zollo G, Pecorelli A, Rossi M, Hayek J. {{Red blood cells in Rett syndrome: oxidative stress, morphological changes and altered membrane organization}}. {Biol Chem};2015 (Jun 3)
In this review, we summarize the current evidence on the erythrocyte as a previously unrecognized target cell in Rett syndrome, a rare (1:10 000 females) and devastating neurodevelopmental disorder caused by loss-of-function mutations in a single gene (i.e. MeCP2, CDKL5, or rarely FOXG1). In particular, we focus on morphological changes, membrane oxidative damage, altered membrane fatty acid profile, and aberrant skeletal organization in erythrocytes from patients with typical Rett syndrome and MeCP2 gene mutations. The beneficial effects of omega-3 polyunsaturated fatty acids (PUFAs) are also summarized for this condition to be considered as a ‘model’ condition for autism spectrum disorders.
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2. de Marchena AB, Eigsti IM, Yerys BE. {{Brief Report: Generalization Weaknesses in Verbally Fluent Children and Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Jun 2)
Individuals with autism spectrum disorder (ASD) have difficulty generalizing-i.e., relating new stimuli to past experiences. Few experimental studies have addressed this weakness, despite its impact on intervention effects. In a reanalysis of data (de Marchena et al. Cognition 119(1):96-113, 2011), we tested a novel form of generalization-the ability to transfer a strategy used in one context to a similar context-in verbally fluent youth with ASD and matched typically developing controls. Participants with ASD were subtly less likely to learn from experience; their generalizations were less consistent. Generalization in ASD correlated with receptive vocabulary but not age, suggesting a link to language development. A richer understanding of how to promote generalization in ASD will advance both theory and practice.
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3. Dell’Osso L, Dalle Luche R, Cerliani C, Bertelloni CA, Gesi C, Carmassi C. {{Unexpected subthreshold autism spectrum in a 25-year-old male stalker hospitalized for delusional disorder: a case report}}. {Compr Psychiatry};2015 (Apr 14)
This paper highlights the clinical challenges faced when assessing patients with stalking behaviors with psychotic disorders, suggesting the need for an accurate assessment of adult autism spectrum symptoms. A 25-year-old man with a diagnosis of delusional disorder, erotomanic type, was hospitalized for acute psychotic symptoms occurred in the framework of a repeated stalking behavior towards his ex girlfriend. When assessed for adult autism spectrum symptoms upon an accurate clinical evaluation, he reported elevated scores in the mentalizing deficit and social anxiety domains by means of the 14 item Ritvo Autism and Asperger Diagnostic Scale (RAADS-14). Authors discuss a possible role of adult (subthreshold) autism spectrum symptoms, generally disregarded in adult psychiatry, on the type of psychotic features and stalking behavior developed that may help for appropriate diagnosis and treatment.
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4. Ellegood J, Crawley JN. {{Behavioral and Neuroanatomical Phenotypes in Mouse Models of Autism}}. {Neurotherapeutics};2015 (Jun 3)
In order to understand the consequences of the mutation on behavioral and biological phenotypes relevant to autism, mutations in many of the risk genes for autism spectrum disorder have been experimentally generated in mice. Here, we summarize behavioral outcomes and neuroanatomical abnormalities, with a focus on high-resolution magnetic resonance imaging of postmortem mouse brains. Results are described from multiple mouse models of autism spectrum disorder and comorbid syndromes, including the 15q11-13, 16p11.2, 22q11.2, Cntnap2, Engrailed2, Fragile X, Integrinbeta3, MET, Neurexin1a, Neuroligin3, Reelin, Rett, Shank3, Slc6a4, tuberous sclerosis, and Williams syndrome models, and inbred strains with strong autism-relevant behavioral phenotypes, including BTBR and BALB. Concomitant behavioral and neuroanatomical abnormalities can strengthen the interpretation of results from a mouse model, and may elevate the usefulness of the model system for therapeutic discovery.
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5. Gozes I. {{The cytoskeleton as a drug target for neuroprotection: the case of the autism- mutated ADNP}}. {Biol Chem};2015 (Jun 3)
Fifteen years ago we discovered activity-dependent neuroprotective protein (ADNP), and showed that it is essential for brain formation/function. Our protein interaction studies identified ADNP as a member of the chromatin remodeling complex, SWI/SNF also associated with alternative splicing of tau and prediction of tauopathy. Recently, we have identified cytoplasmic ADNP interactions with the autophagy regulating microtubule-associated protein 1 light chain 3 (LC3) and with microtubule end-binding (EB) proteins. The ADNP-EB-binding SIP domain is shared with the ADNP snippet drug candidate, NAPVSIPQ termed NAP (davunetide). Thus, we identified a precise target for ADNP/NAP (davunetide) neuroprotection toward improved drug development.
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6. Grahame V, Brett D, Dixon L, McConachie H, Lowry J, Rodgers J, Steen N, Le Couteur A. {{Managing Repetitive Behaviours in Young Children with Autism Spectrum Disorder (ASD): Pilot Randomised Controlled Trial of a New Parent Group Intervention}}. {J Autism Dev Disord};2015 (Jun 3)
Early intervention for autism spectrum disorder (ASD) tends to focus on enhancing social-communication skills. We report the acceptability, feasibility and impact on child functioning of a new 8 weeks parent-group intervention to manage restricted and repetitive behaviours (RRB) in young children with ASD aged 3-7 years. Forty-five families took part in the pilot RCT. A range of primary and secondary outcome measures were collected on four occasions (baseline, 10, 18 and 24 weeks) to capture both independent ratings and parent-reported changes in RRB. This pilot established that parents were willing to be recruited and randomised, and the format and content of the intervention was feasible. Fidelity of delivery was high, and attendance was 90 %. A fully powered trial is now planned.
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7. Johnco CJ, De Nadai AS, Lewin AB, Ehrenreich-May J, Wood JJ, Storch EA. {{Defining Treatment Response and Symptom Remission for Anxiety Disorders in Pediatric Autism Spectrum Disorders Using the Pediatric Anxiety Rating Scale}}. {J Autism Dev Disord};2015 (Jun 2)
This study examined optimal guidelines to assess treatment response and remission for anxiety in youth with autism spectrum disorders (ASD) using the Pediatric Anxiety Rating Scale (PARS). Data was collected for 108 children aged 7-16 years with comorbid anxiety and ASD before and after receiving cognitive behavior therapy. Optimal cut-offs on the PARS were assessed using signal detection analyses using receiver operating characteristic methods. Maximum agreement with response criteria was achieved at 15 % reduction in symptoms on the PARS. Maximum agreement with remission criteria was achieved at 40 % reduction in symptoms, or at a score of 10 or below at post-treatment. Results have implications for standardizing criteria used in research trials and clinical practice.
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8. Kaat AJ, Lecavalier L. {{Reliability and Validity of Parent- and Child-Rated Anxiety Measures in Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Jun 3)
Autism spectrum disorder (ASD) and anxiety frequently co-occur. Research on the phenomenology and treatment of anxiety in ASD is expanding, but is hampered by the lack of instruments validated for this population. This study evaluated the self- and parent-reported Revised Child Anxiety and Depression Scale and the Multidimensional Anxiety Scale in Children-2 among 46 youth with ASD. Internal consistency and test-retest reliability were acceptable, but inter-rater reliability was poor. Parent-child agreement was better for youth with higher IQs, less severe ASD symptoms, or more social cognitive skills. Convergent and divergent validity were acceptable. Demographic characteristics were considered as predictors of anxiety: they were unrelated to parent-report, but younger age and more severe ASD were related to increased self-reported anxiety.
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9. Keesler JM. {{Trauma-informed Day Services for Individuals with Intellectual/Developmental Disabilities: Exploring Staff Understanding and Perception within an Innovative Programme}}. {J Appl Res Intellect Disabil};2015 (Jun 3)
BACKGROUND: Trauma-informed care (TIC) is a systems-level philosophy of service delivery which integrates choice, collaboration, empowerment, safety and trust to create an organizational culture sensitive to trauma. This study explores staff understandings and perceptions within an innovative trauma-informed day program for individuals with Intellectual/developmental disabilities. METHODS: Semi-structured interviews queried staff members (n = 20) regarding trauma and TIC, the integration of the five principles of TIC, associated challenges and recommendations for improvement. RESULTS: Inductive analyses revealed reasonable understandings of trauma and TIC, highlighting factors critical to the five principles of TIC. Differences were associated with duration of employment and the presence of specialized training. Challenges with TIC emerged at different system levels: individuals, staff, management and interorganizational. CONCLUSIONS: This study presents preliminary insight for the innovative and formative process of integrating TIC with intellectual/developmental disabilities services.
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10. Kirkovski M, Enticott PG, Maller JJ, Rossell SL, Fitzgerald PB. {{Diffusion tensor imaging reveals no white matter impairments among adults with autism spectrum disorder}}. {Psychiatry Res};2015 (May 14)
Abnormalities within white matter (WM) have been identified in autism spectrum disorder (ASD). Although there is some support for greater neurobiological deficits among females with ASD, there is little research investigating sex differences in WM in ASD. We used diffusion tensor imaging (DTI) to investigate WM aberration in 25 adults with high-functioning ASD and 24 age-, sex- and IQ-matched controls. Tract-based spatial statistics (TBSS) was used to explore differences in WM in major tract bundles. The effects of biological sex were also investigated. TBSS revealed no differences in fractional anisotropy (FA), mean diffusivity (MD), radial diffusivity (RD), or axial diffusivity (AD) between groups. There were no effects of biological sex. We consider whether methodological differences between past studies have contributed to the highly heterogeneous findings in the literature. Finally, we suggest that, among a high-functioning sample of adults with ASD, differences in WM microstructure may not be related to clinical impairment.
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11. MacFabe DF. {{Enteric short-chain fatty acids: microbial messengers of metabolism, mitochondria, and mind: implications in autism spectrum disorders}}. {Microb Ecol Health Dis};2015;26:28177.
Clinical observations suggest that gut and dietary factors transiently worsen and, in some cases, appear to improve behavioral symptoms in a subset of persons with autism spectrum disorders (ASDs), but the reason for this is unclear. Emerging evidence suggests ASDs are a family of systemic disorders of altered immunity, metabolism, and gene expression. Pre- or perinatal infection, hospitalization, or early antibiotic exposure, which may alter gut microbiota, have been suggested as potential risk factors for ASD. Can a common environmental agent link these disparate findings? This review outlines basic science and clinical evidence that enteric short-chain fatty acids (SCFAs), present in diet and also produced by opportunistic gut bacteria following fermentation of dietary carbohydrates, may be environmental triggers in ASD. Of note, propionic acid, a major SCFA produced by ASD-associated gastrointestinal bacteria (clostridia, bacteroides, desulfovibrio) and also a common food preservative, can produce reversible behavioral, electrographic, neuroinflammatory, metabolic, and epigenetic changes closely resembling those found in ASD when administered to rodents. Major effects of these SCFAs may be through the alteration of mitochondrial function via the citric acid cycle and carnitine metabolism, or the epigenetic modulation of ASD-associated genes, which may be useful clinical biomarkers. It discusses the hypothesis that ASDs are produced by pre- or post-natal alterations in intestinal microbiota in sensitive sub-populations, which may have major implications in ASD cause, diagnosis, prevention, and treatment.
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12. Marshall D, Goodall C. {{The Right to Appropriate and Meaningful Education for Children with ASD}}. {J Autism Dev Disord};2015 (Jun 3)
This paper will explore from a ‘child’s rights perspective’ the ‘right’ of children with autistic spectrum disorder (ASD) to appropriate and meaningful education. Human ‘rights’ principles within international law will be evaluated in relation to how they have been interpreted and applied in relation to achieving this ‘right’. The International Convention of the Rights of the Child (United Nations in Convention on the rights of the child, office of the high commissioner, United Nations, Geneva, 1989) and the convention on the rights of the person with disability (United Nations in Convention on the rights of person’s with disabilities and optional protocol, office of the high commissioner, United Nations, Geneva, 2006) amongst others will be utilised to argue the case for ‘inclusive’ educational opportunities to be a ‘right’ of every child on the autistic spectrum. The efficacy of mainstream inclusion is explored, identifying the position that a ‘one size fits all’ model of education is not appropriate for all children with ASD.
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13. McKenzie K, Forsyth K, O’Hare A, McClure I, Rutherford M, Murray A, Irvine L. {{The relationship between waiting times and ‘adherence’ to the Scottish Intercollegiate Guidelines Network 98 guideline in autism spectrum disorder diagnostic services in Scotland}}. {Autism};2015 (Jun 1)
The aim of this study was to explore the extent to which the Scottish Intercollegiate Guidelines Network 98 guidelines on the assessment and diagnosis of autism spectrum disorder were adhered to in child autism spectrum disorder diagnostic services in Scotland and whether there was a significant relationship between routine practice which more closely reflected these recommendations (increased adherence) and increased waiting times. Retrospective, cross-sectional case note analysis was applied to data from 80 case notes. Adherence ranged from a possible 0 (no adherence) to 19 (full adherence). Overall, 17/22 of the recommendations were adhered to in over 50 of the 80 cases and in 70 or more cases for 11/22 of the recommendations, with a mean adherence score of 16 (standard deviation = 1.9). No significant correlation was found between adherence and total wait time for untransformed (r = 0.15, p = 0.32) or transformed data (r = 0.12, p = 0.20). The results indicated that the assessment and diagnostic practices were consistent with the relevant Scottish Intercollegiate Guidelines Network 98 guideline recommendations. Increased adherence to the 19 included recommendations was not significantly related to increased total waiting times, indicating that the Scottish Intercollegiate Guidelines Network 98 recommendations have generally been integrated into practice, without a resultant increase in patient waits.
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14. Nuske HJ, Vivanti G, Dissanayake C. {{No Evidence of Emotional Dysregulation or Aversion to Mutual Gaze in Preschoolers with Autism Spectrum Disorder: An Eye-Tracking Pupillometry Study}}. {J Autism Dev Disord};2015 (Jun 2)
The ‘gaze aversion hypothesis’, suggests that people with Autism Spectrum Disorder (ASD) avoid mutual gaze because they experience it as hyper-arousing. To test this hypothesis we showed mutual and averted gaze stimuli to 23 mixed-ability preschoolers with ASD (M Mullen DQ = 68) and 21 typically-developing preschoolers, aged 2-5 years, using eye-tracking technology to measure visual attention and emotional arousal (i.e., pupil dilation). There were no group differences in attention to the eye region or pupil dilation. Both groups dilated their pupils more to mutual compared to averted gaze. More internalizing symptoms in the children with ASD related to less emotional arousal to mutual gaze. The pattern of results suggests that preschoolers with ASD are not dysregulated in their responses to mutual gaze.
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15. Renard D, Fourcade G, Castelnovo G. {{Teaching NeuroImages: Corpus callosum splenium hyperintensity in fragile X-associated tremor ataxia syndrome}}. {Neurology};2015 (Jun 2);84(22):e194.
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16. Timonen-Soivio L, Sourander A, Malm H, Hinkka-Yli-Salomaki S, Gissler M, Brown A, Vanhala R. {{The Association Between Autism Spectrum Disorders and Congenital Anomalies by Organ Systems in a Finnish National Birth Cohort}}. {J Autism Dev Disord};2015 (Jun 3)
The aim of this study was to evaluate the association between autism spectrum disorders (ASD) with and without intellectual disability (ID) and congenital anomalies (CAs) by organ system. The sample included all children diagnosed with ASD (n = 4441) from the Finnish Hospital Discharge Register during 1987-2000 and a total of four controls per case (n = 17,695). CAs of the eye, central nervous system, and specific craniofacial anomalies were most strongly associated with ASD. Children with ASD and co-occurring ID were more likely to have CAs compared to ASD children without ID. The results suggest that some cases of ASD may originate during organogenesis, in the early first trimester of pregnancy. The results of this study may be useful for identifying prenatal etiological factors and elucidating the molecular pathogenesis of ASD.
