1. Asato MR, Goldstein AC, Schiff M. {{Autism and inborn errors of metabolism: how much is enough?}}. {Dev Med Child Neurol}. 2015.
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2. Bottema-Beutel K, Mullins TS, Harvey MN, Gustafson JR, Carter EW. {{Avoiding the « brick wall of awkward »: Perspectives of youth with autism spectrum disorder on social-focused intervention practices}}. {Autism}. 2015.
Many youth with autism spectrum disorder participate in school-based, peer-mediated intervention programs designed to improve their social experiences. However, there is little research discerning how these youth view intervention practices currently represented in the literature, information which could improve the social validity of intervention programming. In this mixed-methods study, we interviewed 33 youth with autism spectrum disorder about seven social-focused, peer-mediated intervention components. We asked participants to rate the favorability of each component to determine their degree of liking. Subsequently, we asked participants to give a rationale for their rating, in order to explore influencing factors. Chi-square tests indicated that high ratings were most prevalent for recruiting peers and family involvement and medium ratings were most prevalent for meeting with peers. Analyses of variance also indicated that preferences in the specific format intervention components were delivered. Several themes emerged from our qualitative analysis of open-ended responses, including the ramifications of adults in adolescent social life, the advantages of learning through shared activities with peers, and the effects of disclosing disability status. Our findings will offer guidance for researchers and practitioners interested in individualizing interventions to reflect student preferences. Furthermore, we document areas of concern for youth with autism spectrum disorder as they access school-based interventions.
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3. de Jager W. {{A parent’s guide to Asperger’s Syndrome and High-functioning Autism – how to meet the challenge and help your child thrive by Sally Ozonoff, Geraldine Dawson and James Mcpartland}}. {J Child Adolesc Ment Health}. 2005; 17(2): 79.
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4. Deng W, Zou X, Deng H, Li J, Tang C, Wang X, Guo X. {{The Relationship Among Genetic Heritability, Environmental Effects, and Autism Spectrum Disorders: 37 Pairs of Ascertained Twin Study}}. {J Child Neurol}. 2015.
Autism spectrum disorders (ASD) comprise a heterogeneous group of neurodevelopmental disorders that have strong heritability. To better understand the heritable factors in twins with clinically diagnosed ASD and to discuss the relationship between social impairments and genetic and environmental factors. In last 13 years, over 12,000 cases of ASD were diagnosed in the children’s development and behavior center, the authors review 37 pairs of these twins, in each pair, and at least 1 twin had been diagnosed with an ASD, and found that the concordance rate was 80% [95% confidence interval (CI) 51.9-95.7%] for monozygotic twins and 13.6% (95% CI: 2.9-34.9%) for dizygotic twins. The heritability of social impairments for ASD was 60.9% (95% CI: 47.3-74.5%). In addition, the rate of nonshared environmental factors was 39.1% (95% CI: 25.5-52.7%), and there were no shared environmental effects. Genetics and special environmental effect play an important role on ASD social impairments.
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5. Fernell E, Bejerot S, Westerlund J, Miniscalco C, Simila H, Eyles D, Gillberg C, Humble MB. {{Autism spectrum disorder and low vitamin D at birth: a sibling control study}}. {Mol Autism}. 2015; 6: 3.
BACKGROUND: Insufficient vitamin D activity has attracted increasing interest as a possible underlying risk factor in disorders of the central nervous system, including autism. METHODS: In this study, 25-hydroxyvitamin D (25(OH)D) was analysed in 58 Sweden-born sibling pairs, in which one child had autism spectrum disorder (ASD) and the other did not. The study group consisted of two representative samples; 47 Gothenburg sibling pairs with mixed ethnicities and 11 Stockholm sibling pairs with Somali background. 25(OH)D levels were analysed in the stored dried blood spots taken in the neonatal period for metabolic screening. RESULTS: The collapsed group of children with ASD had significantly lower vitamin D levels (M = 24.0 nM, SD = 19.6) as compared with their siblings (M = 31.9 nM, SD = 27.7), according to a paired samples t-test (P = 0.013). The difference was – most likely – not only accounted for by a difference in season of birth between ASD and non-ASD siblings since the mean 25(OH)D levels differed with similar effect size between the sibling pairs born during winter and summer, respectively. All children with African/Middle East background, both the children with ASD and their non-ASD siblings, had vitamin D deficiency. CONCLUSIONS: The findings suggest that low prenatal vitamin D may act as a risk factor for ASD, however, there is a need for replication with larger samples. Future research should study whether or not adequate supplementation of vitamin D to pregnant women might lower the risk for ASD in the offspring.
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6. Kanwal M, Alyas S, Afzal M, Mansoor A, Abbasi R, Tassone F, Malik S, Mazhar K. {{Molecular Diagnosis of Fragile X Syndrome in Subjects with Intellectual Disability of Unknown Origin: Implications of Its Prevalence in Regional Pakistan}}. {PLoS One}. 2015; 10(4): e0122213.
Fragile-X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and affects 0.7-3.0% of intellectually compromised population of unknown etiology worldwide. It is mostly caused by repeat expansion mutations in the FMR1 at chromosome Xq27.3. The present study aimed to develop molecular diagnostic tools for a better detection of FXS, to assess implementation of diagnostic protocols in a developing country and to estimate the prevalence of FXS in a cohort of intellectually disabled subjects from Pakistan. From a large pool of individuals with below normal IQ range, 395 subjects with intellectual disability of unknown etiology belonging to different regions of the country were recruited. Conventional-PCR, modified-PCR and Southern blot analysis methods were employed for the detection of CGG repeat polymorphisms in the FMR1 gene. Initial screening with conventional-PCR identified 13 suspected patients. Subsequent investigations through modified PCR and Southern blot analyses confirmed the presence of the FMR1 mutation, suggesting a prevalence of 3.5% and 2.8% (mean 3.3%) among the male and female ID patients, respectively. These diagnostic methods were further customized with the in-house conditions to offer robust screening of referral patients/families for diagnostics and genetic counseling. Prescreening and early diagnosis are crucial for designing a prudent strategy for the management of subjects with ID. Outcome of the study recommends health practitioners for implementation of molecular based FXS diagnosis in routine clinical practice to give a better care for patients similar to the ones included in the study.
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7. Kozol RA, Cukier HN, Zou B, Mayo V, De Rubeis S, Cai G, Griswold AJ, Whitehead PL, Haines JL, Gilbert JR, Cuccaro ML, Martin ER, Baker JD, Buxbaum JD, Pericak-Vance MA, Dallman JE. {{Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis}}. {Hum Mol Genet}. 2015.
Despite significant progress in the genetics of autism spectrum disorder (ASD), how genetic mutations translate to the behavioral changes characteristic of ASD remains largely unknown. ASD affects 1-2% of children and adults, and is characterized by deficits in verbal and non-verbal communication, and social interactions, as well as the presence of repetitive behaviors and/or stereotyped interests. ASD is clinically and etiologically heterogeneous, with a strong genetic component. Here, we present functional data from syngap1 and shank3 zebrafish loss-of-function models of ASD. SYNGAP1, a synaptic Ras GTPase activating protein, and SHANK3, a synaptic scaffolding protein, were chosen because of mounting evidence that haploinsufficiency in these genes is highly penetrant for ASD and intellectual disability (ID). Orthologs of both SYNGAP1 and SHANK3 are duplicated in the zebrafish genome and we find that all four transcripts (syngap1a, syngap1b, shank3a and shank3b) are expressed at the earliest stages of nervous system development with pronounced expression in the larval brain. Consistent with early expression of these genes, knockdown of syngap1b or shank3a cause common embryonic phenotypes including delayed mid- and hindbrain development, disruptions in motor behaviors that manifest as unproductive swim attempts, and spontaneous, seizure-like behaviors. Our findings indicate that both syngap1b and shank3a play novel roles in morphogenesis resulting in common brain and behavioral phenotypes.
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8. Nicolaidis C, Raymaker DM, Ashkenazy E, McDonald KE, Dern S, Baggs AE, Kapp SK, Weiner M, Boisclair WC. {{« Respect the way I need to communicate with you »: Healthcare experiences of adults on the autism spectrum}}. {Autism}. 2015.
Our objective was to obtain an in-depth understanding of autistic adults’ experiences with healthcare and their recommendations for improving care. Our academic-community partnership used a community-based participatory research approach to conduct semi-structured, open-ended interviews with 39 autistic adults and 16 people who had experience supporting autistic adults in healthcare settings. Participants identified patient-level, autism-related factors that impact healthcare interactions, including verbal communication skills, sensory sensitivities, challenges with body awareness, slow processing speed, atypical non-verbal communication, and challenges with organization. However, the success of healthcare interactions largely depended on the interplay between patient- and provider-level factors, as well as the larger context in which patients were receiving care. Provider-level factors included providers’ knowledge about autism in adults, incorrect assumptions about individual patients, willingness to allow written communication, use of accessible language, openness to providing other accommodations, and skill in appropriately incorporating supporters. System-level factors included the availability of supporters, complexity of the healthcare system, accessibility of healthcare facilities, and stigma about autism. Further efforts are needed to empower patients, adequately train providers, increase the accessibility of the healthcare system, and decrease discrimination.
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9. Roine U, Salmi J, Roine T, Wendt TN, Leppamaki S, Rintahaka P, Tani P, Leemans A, Sams M. {{Constrained spherical deconvolution-based tractography and tract-based spatial statistics show abnormal microstructural organization in Asperger syndrome}}. {Mol Autism}. 2015; 6: 4.
BACKGROUND: The aim of this study was to investigate potential differences in neural structure in individuals with Asperger syndrome (AS), high-functioning individuals with autism spectrum disorder (ASD). The main symptoms of AS are severe impairments in social interactions and restricted or repetitive patterns of behaviors, interests or activities. METHODS: Diffusion weighted magnetic resonance imaging data were acquired for 14 adult males with AS and 19 age, sex and IQ-matched controls. Voxelwise group differences in fractional anisotropy (FA) were studied with tract-based spatial statistics (TBSS). Based on the results of TBSS, a tract-level comparison was performed with constrained spherical deconvolution (CSD)-based tractography, which is able to detect complex (for example, crossing) fiber configurations. In addition, to investigate the relationship between the microstructural changes and the severity of symptoms, we looked for correlations between FA and the Autism Spectrum Quotient (AQ), Empathy Quotient and Systemizing Quotient. RESULTS: TBSS revealed widely distributed local increases in FA bilaterally in individuals with AS, most prominent in the temporal part of the superior longitudinal fasciculus, corticospinal tract, splenium of corpus callosum, anterior thalamic radiation, inferior fronto-occipital fasciculus (IFO), posterior thalamic radiation, uncinate fasciculus and inferior longitudinal fasciculus (ILF). CSD-based tractography also showed increases in the FA in multiple tracts. However, only the difference in the left ILF was significant after a Bonferroni correction. These results were not explained by the complexity of microstructural organization, measured using the planar diffusion coefficient. In addition, we found a correlation between AQ and FA in the right IFO in the whole group. CONCLUSIONS: Our results suggest that there are local and tract-level abnormalities in white matter (WM) microstructure in our homogenous and carefully characterized group of adults with AS, most prominent in the left ILF.
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10. Ruzich E, Allison C, Smith P, Watson P, Auyeung B, Ring H, Baron-Cohen S. {{Measuring autistic traits in the general population: a systematic review of the Autism-Spectrum Quotient (AQ) in a nonclinical population sample of 6,900 typical adult males and females}}. {Mol Autism}. 2015; 6: 2.
The Autism-Spectrum Quotient (AQ) is a self-report measure of autistic traits. It is frequently cited in diverse fields and has been administered to adults of at least average intelligence with autism and to nonclinical controls, as well as to clinical control groups such as those with schizophrenia, prosopagnosia, anorexia, and depression. However, there has been no empirical systematic review of the AQ since its inception in 2001. The present study reports a comprehensive systematic review of the literature to estimate a reliable mean AQ score in individuals without a diagnosis of an autism spectrum condition (ASC), in order to establish a reference norm for future studies. A systematic search of computerized databases was performed to identify studies that administered the AQ to nonclinical participant samples representing the adult male and female general population. Inclusion was based on a set of formalized criteria that evaluated the quality of the study, the usage of the AQ, and the population being assessed. After selection, 73 articles, detailing 6,934 nonclinical participants, as well as 1,963 matched clinical cases of ASC (from available cohorts within each individual study), were analyzed. Mean AQ score for the nonclinical population was 16.94 (95% CI 11.6, 20.0), while mean AQ score for the clinical population with ASC was found to be 35.19 (95% CI 27.6, 41.1). In addition, in the nonclinical population, a sex difference in autistic traits was found, although no sex difference in AQ score was seen in the clinical ASC population. These findings have implications for the study of autistic traits in the general population. Here, we confirm previous norms with more rigorous data and for the first time establish average AQ scores based on a systematic review, for populations of adult males and females with and without ASC. Finally, we advise future researchers to avoid risk of bias by carefully considering the recruitment strategy for both clinical and nonclinical groups and to demonstrate transparency by reporting recruitment methods for all participants.
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11. Saad K, Abdel-Rahman AA, Elserogy YM, Al-Atram AA, Cannell JJ, Bjorklund G, Abdel-Reheim MK, Othman HA, El-Houfey AA, Hashem EA, Abd El-Aziz NH, Abd El-Baseer KA, Ahmed AE, Ali AM. {{Vitamin D status in autism spectrum disorders and the efficacy of vitamin D supplementation in autistic children}}. {Nutr Neurosci}. 2015.
Objectives Autism spectrum disorder (ASD) is a developmental disorder characterized by pervasive deficits in social interaction, impairment in verbal and non-verbal communication, and stereotyped patterns of interests and activities. Vitamin-D deficiency was previously reported in autistic children. However, the data on the relationship between vitamin D deficiency and the severity of autism are limited. Methods We performed a case-controlled cross-sectional analysis conducted on 122 ASD children, to assess their vitamin D status compared to controls and the relationship between vitamin D deficiency and the severity of autism. We also conducted an open trial of vitamin D supplementation in ASD children. Results Fifty-seven percent of the patients in the present study had vitamin D deficiency, and 30% had vitamin D insufficiency. The mean 25-OHD levels in patients with severe autism were significantly lower than those in patients with mild/moderate autism. Serum 25-OHD levels had significant negative correlations with Childhood Autism Rating Scale (CARS) scores. Of the ASD group, 106 patients with low-serum 25-OHD levels (<30 ng/ml) participated in the open label trial. They received vitamin D3 (300 IU/kg/day not to exceed 5000 IU/day) for 3 months. Eighty-three subjects completed 3 months of daily vitamin D treatment. Collectively, 80.72% (67/83) of subjects who received vitamin D3 treatment had significantly improved outcome, which was mainly in the sections of the CARS and aberrant behavior checklist subscales that measure behavior, stereotypy, eye contact, and attention span. Conclusion Vitamin D is inexpensive, readily available and safe. It may have beneficial effects in ASD subjects, especially when the final serum level is more than 40 ng/ml. Trial registration number UMIN-CTR Study Design: trial Number: R000016846.
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12. Thomson K, Burnham Riosa P, Weiss JA. {{Brief Report of Preliminary Outcomes of an Emotion Regulation Intervention for Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2015.
Children with autism spectrum disorder (ASD) often present with comorbid psychopathology including problems with emotion regulation. The goal of the present research was to investigate the feasibility of a multicomponent manualized cognitive behavior therapy treatment program for improving emotion regulation in youth with ASD 8-12 years of age. Thirteen males and their parents participated in the intervention, reporting high satisfaction with the activities and program overall, and attending all sessions. Preliminary outcomes regarding emotion regulation and psychopathology, and feasibility of the intervention, are summarized and discussed.
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13. Whyte EM, Behrmann M, Minshew NJ, Garcia NV, Scherf KS. {{Animal, but not human, faces engage the distributed face network in adolescents with autism}}. {Dev Sci}. 2015.
Multiple hypotheses have been offered to explain the impaired face-processing behavior and the accompanying underlying disruptions in neural circuitry among individuals with autism. We explored the specificity of atypical face-processing activation and potential alterations to fusiform gyrus (FG) morphology as potential underlying mechanisms. Adolescents with high functioning autism (HFA) and age-matched typically developing (TD) adolescents were scanned with sMRI and fMRI as they observed human and animal faces. In spite of exhibiting comparable face recognition behavior, the HFA adolescents evinced hypo-activation throughout the face-processing system in response to unfamiliar human, but not animal, faces. They also exhibited greater activation in affective regions of the face-processing network in response to animal, but not human, faces. Importantly, this atypical pattern of activation in response to human faces was not related to atypical structural properties of the FG. This atypical neural response to human faces in autism may stem from abnormalities in the ability to represent the reward value of social (i.e. conspecific) stimuli.
