1. Atladottir HO, Schendel DE, Parner ET, Henriksen TB. {{A Descriptive Study on the Neonatal Morbidity Profile of Autism Spectrum Disorders, Including a Comparison with Other Neurodevelopmental Disorders}}. {J Autism Dev Disord};2015 (Mar 11)
The aim of this study was to describe the profile of specific neonatal morbidities in children later diagnosed with autism spectrum disorder (ASD), and to compare this profile with the profile of children with hyperkinetic disorder, cerebral palsy, epilepsy or intellectual disability. This is a Danish population based cohort study, including all children born in Denmark from 1994, through 2010, and surviving the first year of life. Children with ASD as a whole have significantly elevated rates of a range of neurologic, respiratory, inflammatory, and metabolic problems in the neonatal period compared to the general population, but there are few if any indicators of a distinctive neonatal morbidity profile in ASD compared to other neurodevelopmental outcomes.
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2. Davis JM, Searles Quick VB, Sikela JM. {{Replicated linear association between DUF1220 copy number and severity of social impairment in autism}}. {Hum Genet};2015 (Mar 11)
Sequences encoding DUF1220 protein domains exhibit an exceptional human-specific increase in copy number and have been associated with several phenotypes related to brain size. Autism is a highly heritable and heterogeneous condition characterized behaviorally by social and communicative impairments, and increased repetitive and stereotyped behavior. Given the accelerated brain growth pattern observed in many individuals with autism, and the association between DUF1220 subtype CON1 copy number and brain size, we previously investigated associations between CON1 copy number and autism-related symptoms. We determined that CON1 copy number increase is associated with increasing severity of all three behavioral features of autism. The present study sought to replicate these findings in an independent population (N = 166). Our results demonstrate a replication of the linear relationship between CON1 copy number and the severity of social impairment in individuals with autism as measured by Autism Diagnostic Interview-Revised Social Diagnostic Score, such that with each additional copy of CON1 Social Diagnostic Score increased 0.24 points (SE = 0.11, p = 0.036). We also identified an analogous trend between CON1 copy number and Communicative Diagnostic Score, but did not replicate the relationship between CON1 copy number and Repetitive Behavior Diagnostic Score. Interestingly, these associations appear to be most pronounced in multiplex children. These results, representing the first replication of a gene dosage relationship with the severity of a primary symptom of autism, lend further support to the possibility that the same protein domain family implicated in the evolutionary expansion of the human brain may also be involved in autism severity.
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3. Duignan E, Kenna P, Watson R, Fitzsimon S, Brosnahan D. {{Ophthalmic manifestations of vitamin a and d deficiency in two autistic teenagers: case reports and a review of the literature}}. {Case Rep Ophthalmol};2015 (Jan-Apr);6(1):24-29.
We describe the cases of 2 autistic children with ophthalmic and systemic manifestations of vitamin A deficiency due to food faddism. Although vitamin A deficiency is common in the developing world, reports in developed societies are rare. Our patients presented over a 1-year period. The patients were 14 and 13 years old at the time of presentation and were both found to have marked features of vitamin A deficiency related to unusual dietary habits. Anterior segment signs of xerophthalmia were present in both patients. In addition, patient 1 showed evidence of a rod-predominant retinopathy, which resolved with vitamin A supplementation. Due to its rare occurrence, hypovitaminosis A must be highlighted and anticipated in this cohort.
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4. Grinker RR, Kang-Yi CD, Ahmann C, Beidas RS, Lagman A, Mandell DS. {{Cultural Adaptation and Translation of Outreach Materials on Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Mar 11)
In order to connect with families and influence treatment trajectories, outreach materials should address cultural perceptions of the condition, its causes, and post-diagnostic care. This paper describes the cultural adaptation and translation of the Autism Speaks First 100 Days Kit into Korean for the purpose of improving autism spectrum disorder (ASD) diagnosis, assessment, and interventions. The goal of this study is to describe a methodology for future cross-cultural adaptations and translations of outreach materials on ASD, using the Autism Speaks First 100 Days Kit as an exemplar. The research involved two stages of qualitative interviews: unstructured individual and group interviews with 19 Korean child health and education professionals in Queens, NY, followed by structured cultural consensus modeling interviews with 23 Korean mothers, with and without children with ASD, in Queens, NY and the greater Washington, DC area. We conclude that a systematic approach to cultural translation of outreach materials is feasible. Cultural consensus modeling yielded information about numerous barriers to care, had a demonstrable effect on the translation of the kit, and was efficient when employed with coherent segments of a relatively homogeneous population and focused on a single condition.
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5. McDonald D, Hornig M, Lozupone C, Debelius J, Gilbert JA, Knight R. {{Towards large-cohort comparative studies to define the factors influencing the gut microbial community structure of ASD patients}}. {Microb Ecol Health Dis};2015;26:26555.
Differences in the gut microbiota have been reported between individuals with autism spectrum disorders (ASD) and neurotypical controls, although direct evidence that changes in the microbiome contribute to causing ASD has been scarce to date. Here we summarize some considerations of experimental design that can help untangle causality in this complex system. In particular, large cross-sectional studies that can factor out important variables such as diet, prospective longitudinal studies that remove some of the influence of interpersonal variation in the microbiome (which is generally high, especially in children), and studies transferring microbial communities into germ-free mice may be especially useful. Controlling for the effects of technical variables, which have complicated efforts to combine existing studies, is critical when biological effect sizes are small. Large citizen-science studies with thousands of participants such as the American Gut Project have been effective at uncovering subtle microbiome effects in self-collected samples and with self-reported diet and behavior data, and may provide a useful complement to other types of traditionally funded and conducted studies in the case of ASD, especially in the hypothesis generation phase.
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6. Orinstein AJ, Suh J, Porter K, De Yoe KA, Tyson KE, Troyb E, Barton ML, Eigsti IM, Stevens MC, Fein DA. {{Social Function and Communication in Optimal Outcome Children and Adolescents with an Autism History on Structured Test Measures}}. {J Autism Dev Disord};2015 (Mar 11)
Youth who lose their ASD diagnosis may have subtle social and communication difficulties. We examined social and communication functioning in 44 high-functioning autism (HFA), 34 optimal outcome (OO) and 34 typically developing (TD) youth. Results indicated that OO participants had no autism communication symptoms, no pragmatic language deficits, and were judged as likable as TD peers. Some group differences were found: OO youth had less insight into social relationships and poorer friendship descriptions than TD youth. OO participants had attention, self-control, and immaturity difficulties that may impact social abilities. However, OO participants were most engaged, friendliest, warmest, and most approachable. Overall, OO participants had no social and communicative impairments, although some exhibited mild social difficulties that often accompany attentional problems.
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7. Ratcliffe B, Wong M, Dossetor D, Hayes S. {{The Association Between Social Skills and Mental Health in School-Aged Children with Autism Spectrum Disorder, With and Without Intellectual Disability}}. {J Autism Dev Disord};2015 (Mar 11)
Autism Spectrum Disorder (ASD) is associated with social skills deficits and co-occurring mental health difficulties. ASD frequently co-occurs with Intellectual Disability (ID). There is scant literature exploring the association between social skills and mental health in children with ASD, with or without ID. Participants were 292 children aged six to 13 with ASD (217 without ID; 76 with Mild ID). Parents and teachers rated social skills and mental health using standardised questionnaires. Greater mental health difficulties were associated with greater social responsiveness difficulties and poorer social skills across the sample. Effect sizes were large. Social skills explained a significant proportion of the variance in mental health scores across the sample. The study has important implications for treatment and future research.
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8. Ratni H, Rogers-Evans M, Bissantz C, Grundschober C, Moreau JL, Schuler F, Fischer H, Alvarez Sanchez R, Schnider P. {{Discovery of Highly Selective Brain-Penetrant Vasopressin 1a Antagonists for the Potential Treatment of Autism via a Chemogenomic and Scaffold Hopping Approach}}. {J Med Chem};2015 (Mar 12);58(5):2275-2289.
From a micromolar high throughput screening hit 7, the successful complementary application of a chemogenomic approach and of a scaffold hopping exercise rapidly led to a low single digit nanomolar human vasopressin 1a (hV1a) receptor antagonist 38. Initial optimization of the mouse V1a activities delivered suitable tool compounds which demonstrated a V1a mediated central in vivo effect. This novel series was further optimized through parallel synthesis with a focus on balancing lipophilicity to achieve robust aqueous solubility while avoiding P-gp mediated efflux. These efforts led to the discovery of the highly potent and selective brain-penetrant hV1a antagonist RO5028442 (8) suitable for human clinical studies in people with autism.
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9. Sun X, Allison C, Auyeung B, Zhang Z, Matthews FE, Baron-Cohen S, Brayne C. {{Validation of existing diagnosis of autism in mainland China using standardised diagnostic instruments}}. {Autism};2015 (Mar 10)
Research to date in mainland China has mainly focused on children with autistic disorder rather than Autism Spectrum Conditions and the diagnosis largely depended on clinical judgment without the use of diagnostic instruments. Whether children who have been diagnosed in China before meet the diagnostic criteria of Autism Spectrum Conditions is not known nor how many such children would meet these criteria. The aim of this study was to evaluate children with a known diagnosis of autism in mainland China using the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised to verify that children who were given a diagnosis of autism made by Chinese clinicians in China were mostly children with severe autism. Of 50 children with an existing diagnosis of autism made by Chinese clinicians, 47 children met the diagnosis of autism on the Autism Diagnostic Observation Schedule algorithm and 44 children met the diagnosis of autism on the Autism Diagnostic Interview-Revised algorithm. Using the Gwet’s alternative chance-corrected statistic, the agreement between the Chinese diagnosis and the Autism Diagnostic Observation Schedule diagnosis was very good (AC1 = 0.94, p < 0.005, 95% confidence interval (0.86, 1.00)), so was the agreement between the Chinese diagnosis and the Autism Diagnostic Interview-Revised (AC1 = 0.91, p < 0.005, 95% confidence interval (0.81, 1.00)). The agreement between the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised was lower but still very good (AC1 = 0.83, p < 0.005).
10. Wang L, Wee CY, Tang X, Yap PT, Shen D. {{Multi-task feature selection via supervised canonical graph matching for diagnosis of autism spectrum disorder}}. {Brain Imaging Behav};2015 (Mar 12)
In this paper, we propose a novel framework for ASD diagnosis using structural magnetic resonance imaging (MRI). Our method deals explicitly with the distributional differences of gray matter (GM) and white matter (WM) features extracted from MR images. We project linearly the GM and WM features onto a canonical space where their correlations are mutually maximized. In this canonical space, features that are highly correlated with the class labels are selected for ASD diagnosis. In addition, graph matching is employed to preserve the geometrical relationships between samples when projected onto the canonical space. Our evaluations based on a public ASD dataset show that the proposed method outperforms all competing methods on all clinically important measures in differentiating ASD patients from healthy individuals.
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11. Yildirim Sari H, Girli A, Ozturk Ozgonenel S, Rowley H. {{Determination of Injury Risks and Safety Measures Taken by Mothers of Children With an Intellectual Disability and Autism Spectrum Disorder}}. {Int J Nurs Knowl};2015 (Mar 10)
PURPOSE: The purpose of the study is to determine the injury risk behaviors and home safety measures in children with an intellectual disability or autism spectrum disorder. METHOD: The study sample included mothers of 100 children between the ages of 2 and 12 years. FINDINGS: There was a significant difference between the home safety measures and the children’s ages, the birth order of the children, and the mother’s and father’s ages. There was not a significant relationship between the children’s ages, diagnosis, and Injury Behavior Checklist (IBC). There is a positive correlation between the total score of the Home Safety Measures Control List and IBC.
