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Predictors of outcomes in Autism Intervention: Why don’t we know more?  [PDF]
Giacomo Vivanti,Cheryl Dissanayake
Frontiers in Pediatrics , 2014, DOI: 10.3389/fped.2014.00058
Abstract: Response to early educational treatment programs in autism is variable. However the factors associated with positive versus poor treatment outcomes remain unknown. Hence the issue of which intervention/s should be chosen for an individual child remains a common dilemma. We argue that lack of knowledge on “what works for whom and why” in autism reflects a number of issues in current approaches to outcomes research, and we provide recommendations to address these limitations. These include: a theory-driven selection of putative predictors; the inclusion of proximal measures that are directly relevant to the learning mechanisms demanded by the specific educational strategies; and the consideration of family characteristics. Moreover, all data on associations between predictor and outcome variables should be reported in treatment studies.
A Behavioral Comparison of Male and Female Adults with High Functioning Autism Spectrum Conditions  [PDF]
Meng-Chuan Lai,Michael V. Lombardo,Greg Pasco,Amber N. V. Ruigrok,Sally J. Wheelwright,Susan A. Sadek,Bhismadev Chakrabarti,Simon Baron-Cohen
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0020835
Abstract: Autism spectrum conditions (ASC) affect more males than females in the general population. However, within ASC it is unclear if there are phenotypic sex differences. Testing for similarities and differences between the sexes is important not only for clinical assessment but also has implications for theories of typical sex differences and of autism. Using cognitive and behavioral measures, we investigated similarities and differences between the sexes in age- and IQ-matched adults with ASC (high-functioning autism or Asperger syndrome). Of the 83 (45 males and 38 females) participants, 62 (33 males and 29 females) met Autism Diagnostic Interview-Revised (ADI-R) cut-off criteria for autism in childhood and were included in all subsequent analyses. The severity of childhood core autism symptoms did not differ between the sexes. Males and females also did not differ in self-reported empathy, systemizing, anxiety, depression, and obsessive-compulsive traits/symptoms or mentalizing performance. However, adult females with ASC showed more lifetime sensory symptoms (p = 0.036), fewer current socio-communication difficulties (p = 0.001), and more self-reported autistic traits (p = 0.012) than males. In addition, females with ASC who also had developmental language delay had lower current performance IQ than those without developmental language delay (p<0.001), a pattern not seen in males. The absence of typical sex differences in empathizing-systemizing profiles within the autism spectrum confirms a prediction from the extreme male brain theory. Behavioral sex differences within ASC may also reflect different developmental mechanisms between males and females with ASC. We discuss the importance of the superficially better socio-communication ability in adult females with ASC in terms of why females with ASC may more often go under-recognized, and receive their diagnosis later, than males.
Cognition in Males and Females with Autism: Similarities and Differences  [PDF]
Meng-Chuan Lai, Michael V. Lombardo, Amber N. V. Ruigrok, Bhismadev Chakrabarti, Sally J. Wheelwright, Bonnie Auyeung, Carrie Allison, MRC AIMS Consortium , Simon Baron-Cohen
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0047198
Abstract: The male bias in autism spectrum conditions (ASC) has led to females with ASC being under-researched. This lack of attention to females could hide variability due to sex that may explain some of the heterogeneity within ASC. In this study we investigate four key cognitive domains (mentalizing and emotion perception, executive function, perceptual attention to detail, and motor function) in ASC, to test for similarities and differences between males and females with and without ASC (n = 128 adults; n = 32 per group). In the mentalizing and facial emotion perception domain, males and females with ASC showed similar deficits compared to neurotypical controls. However, in attention to detail and dexterity involving executive function, although males with ASC showed poorer performance relative to neurotypical males, females with ASC performed comparably to neurotypical females. We conclude that performance in the social-cognitive domain is equally impaired in male and female adults with ASC. However, in specific non-social cognitive domains, performance within ASC depends on sex. This suggests that in specific domains, cognitive profiles in ASC are modulated by sex.
Characteristics and Predictive Value of Blood Transcriptome Signature in Males with Autism Spectrum Disorders  [PDF]
Sek Won Kong, Christin D. Collins, Yuko Shimizu-Motohashi, Ingrid A. Holm, Malcolm G. Campbell, In-Hee Lee, Stephanie J. Brewster, Ellen Hanson, Heather K. Harris, Kathryn R. Lowe, Adrianna Saada, Andrea Mora, Kimberly Madison, Rachel Hundley, Jessica Egan, Jillian McCarthy, Ally Eran, Michal Galdzicki, Leonard Rappaport, Louis M. Kunkel, Isaac S. Kohane
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0049475
Abstract: Autism Spectrum Disorders (ASD) is a spectrum of highly heritable neurodevelopmental disorders in which known mutations contribute to disease risk in 20% of cases. Here, we report the results of the largest blood transcriptome study to date that aims to identify differences in 170 ASD cases and 115 age/sex-matched controls and to evaluate the utility of gene expression profiling as a tool to aid in the diagnosis of ASD. The differentially expressed genes were enriched for the neurotrophin signaling, long-term potentiation/depression, and notch signaling pathways. We developed a 55-gene prediction model, using a cross-validation strategy, on a sample cohort of 66 male ASD cases and 33 age-matched male controls (P1). Subsequently, 104 ASD cases and 82 controls were recruited and used as a validation set (P2). This 55-gene expression signature achieved 68% classification accuracy with the validation cohort (area under the receiver operating characteristic curve (AUC): 0.70 [95% confidence interval [CI]: 0.62–0.77]). Not surprisingly, our prediction model that was built and trained with male samples performed well for males (AUC 0.73, 95% CI 0.65–0.82), but not for female samples (AUC 0.51, 95% CI 0.36–0.67). The 55-gene signature also performed robustly when the prediction model was trained with P2 male samples to classify P1 samples (AUC 0.69, 95% CI 0.58–0.80). Our result suggests that the use of blood expression profiling for ASD detection may be feasible. Further study is required to determine the age at which such a test should be deployed, and what genetic characteristics of ASD can be identified.
Why Do Cuckolded Males Provide Paternal Care?  [PDF]
Ashleigh S. Griffin,Suzanne H. Alonzo,Charlie K. Cornwallis
PLOS Biology , 2013, DOI: 10.1371/journal.pbio.1001520
Abstract: In most species, males do not abandon offspring or reduce paternal care when they are cuckolded by other males. This apparent lack of adjustment of paternal investment with the likelihood of paternity presents a potential challenge to our understanding of what drives selection for paternal care. In a comparative analysis across birds, fish, mammals, and insects we identify key factors that explain why cuckolded males in many species do not reduce paternal care. Specifically, we show that cuckolded males only reduce paternal investment if both the costs of caring are relatively high and there is a high risk of cuckoldry. Under these circumstances, selection is expected to favour males that reduce paternal effort in response to cuckoldry. In many species, however, these conditions are not satisfied and tolerant males have outcompeted males that abandon young.
Middha Akanksha,Kataria Sahil,Sandhu Premjeet,Kapoor Bhawna
International Journal of Research in Ayurveda and Pharmacy , 2011,
Abstract: Autism or Autism Spectrum Disorders (ASD) is a serious neurological disorder affecting communication skills, social interactions, adaptability in an individual, and also causes dramatic changes in behavioral patterns. This condition typically lasts throughout one’s lifetime and affects both, children as well as adults. Research has shown a tenfold increase in autism cases over the past decade and still rising at an alarming pace. The origins of autism are not known even to modern science. Autism exists at different levels in individuals affected by the disease and is classified into five types. Symptoms for autism are more pronounced and prevalent in children compared to adults. Though some studies attribute autism to gene abnormality, science is yet to furnish hard facts about exact autism causes. Scientists and doctors are also unanimous in their opinion that autism, as of yet, has no cure. Treatments of autism are widely available and help in alleviating the symptoms of autism which make living with the condition easier.Several factors work together in causing autism but isolation and identification of a chief cause or causes has yet to be accomplished by modern science. Some people mistakenly believe that autism is related to bad parenting, vaccinations, or malnutrition. But these misconceptions are due to improper knowledge related to the disease. Symptoms of autism usually surface within the first two years of birth in children. Autistic children usually avoid eye contact and are poor imitators of sound together with a disliking towards a change in routines as well as non adaptability to new environments. At present, there is an absence of medical tests which can diagnose autism. The diagnosis of autism is largely based on developmental history and behavioral patterns. Medicinal treatments of autism have a downside as autism patients develop resistance to certain drugs over long period of use. All types of autism demand a good plan of treatment, or an appropriate management therapy to better deal with the disease. Autism is a lifetime disease that can be controlled to a vast degree with proper care and due attention.
Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder  [cached]
Steinberg Karyn,Ramachandran Dhanya,Patel Viren C,Shetty Amol C
Molecular Autism , 2012, DOI: 10.1186/2040-2392-3-8
Abstract: Background Autism spectrum disorder (ASD) is highly heritable, but the genetic risk factors for it remain largely unknown. Although structural variants with large effect sizes may explain up to 15% ASD, genome-wide association studies have failed to uncover common single nucleotide variants with large effects on phenotype. The focus within ASD genetics is now shifting to the examination of rare sequence variants of modest effect, which is most often achieved via exome selection and sequencing. This strategy has indeed identified some rare candidate variants; however, the approach does not capture the full spectrum of genetic variation that might contribute to the phenotype. Methods We surveyed two loci with known rare variants that contribute to ASD, the X-linked neuroligin genes by performing massively parallel Illumina sequencing of the coding and noncoding regions from these genes in males from families with multiplex autism. We annotated all variant sites and functionally tested a subset to identify other rare mutations contributing to ASD susceptibility. Results We found seven rare variants at evolutionary conserved sites in our study population. Functional analyses of the three 3’ UTR variants did not show statistically significant effects on the expression of NLGN3 and NLGN4X. In addition, we identified two NLGN3 intronic variants located within conserved transcription factor binding sites that could potentially affect gene regulation. Conclusions These data demonstrate the power of massively parallel, targeted sequencing studies of affected individuals for identifying rare, potentially disease-contributing variation. However, they also point out the challenges and limitations of current methods of direct functional testing of rare variants and the difficulties of identifying alleles with modest effects.
Stem Cell Therapy for Autism
Thomas E Ichim, Fabio Solano, Eduardo Glenn, Frank Morales, Leonard Smith, George Zabrecky, Neil H Riordan
Journal of Translational Medicine , 2007, DOI: 10.1186/1479-5876-5-30
Abstract: Autism spectrum disorders (ASD) are reaching epidemic proportions, believed to affect approximately 1 in 166 children. Autism, Asperger's syndrome, Rett's disorder, and childhood disintegrae disorder are all encompassed by the term ASD. Autism is the most prevalent ASD, characterized by abnormalities in social interaction, impaired verbal and nonverbal communication, and repetitive, obsessive behavior. Autism may vary in severity from mild to disabling and is believed to arise from genetic and environmental factors. While symptomology of autism may be noted by caregivers around 12–18 months [1], definitive diagnosis generally occurs around 24–36 months, however in some cases diagnosis may be made into adulthood [2]. Determination of autism is performed using the DSM-IV-TR, or other questionnaires and tests. Children with autism appear withdrawn, self-occupied, and distant. Inflexibility in terms of learning from experiences and modifying patterns to integrate into new environments is characteristic of autism. Depending on degree of severity, some children with autism may develop into independent adults with full time employment and self sufficiency; however this is seldom the case.Current treatments for autism can divided into behavioral, nutritional and medical approaches, although no clear golden standard approach exists. Behavioral interventions usually include activities designed to encourage social interaction, communication, awareness of self, and increase attention. Nutritional interventions aim to restrict allergy-associated dietary components, as well as to supplement minerals or vitamins that may be lacking. Medical interventions usually treat specific activities associated with autism. For example, serotonin reuptake inhibitors (SSRI's) such as fluoxetine, fluvoxamine, sertraline, and clomipramine, are used for treatment of anxiety and depression. Some studies have shown that SSRI's also have the added benefit of increasing social interaction and inhibiti
Psychiatric and psychosocial problems in adults with normal-intelligence autism spectrum disorders
Bj?rn Hofvander, Richard Delorme, Pauline Chaste, Agneta Nydén, Elisabet Wentz, Ola St?hlberg, Evelyn Herbrecht, Astrid Stopin, Henrik Anckars?ter, Christopher Gillberg, Maria R?stam, Marion Leboyer
BMC Psychiatry , 2009, DOI: 10.1186/1471-244x-9-35
Abstract: Autistic symptomatology according to the DSM-IV-criteria and the Gillberg & Gillberg research criteria, patterns of comorbid psychopathology and psychosocial outcome were assessed in 122 consecutively referred adults with normal intelligence ASDs. The subjects consisted of 5 patients with autistic disorder (AD), 67 with Asperger's disorder (AS) and 50 with pervasive developmental disorder not otherwise specified (PDD NOS). This study group consists of subjects pooled from two studies with highly similar protocols, all seen on an outpatient basis by one of three clinicians.Core autistic symptoms were highly prevalent in all ASD subgroups. Though AD subjects had the most pervasive problems, restrictions in non-verbal communication were common across all three subgroups and, contrary to current DSM criteria, so were verbal communication deficits. Lifetime psychiatric axis I comorbidity was very common, most notably mood and anxiety disorders, but also ADHD and psychotic disorders. The frequency of these diagnoses did not differ between the ASD subgroups or between males and females. Antisocial personality disorder and substance abuse were more common in the PDD NOS group. Of all subjects, few led an independent life and very few had ever had a long-term relationship. Female subjects more often reported having been bullied at school than male subjects.ASDs are clinical syndromes characterized by impaired social interaction and non-verbal communication in adulthood as well as in childhood. They also carry a high risk for co-existing mental health problems from a broad spectrum of disorders and for unfavourable psychosocial life circumstances. For the next revision of DSM, our findings especially stress the importance of careful examination of the exclusion criterion for adult patients with ASDs.Autism spectrum disorders (ASDs) (or pervasive developmental disorders (PDDs), in the DSM-IV) are impairing developmental disorders characterized by aberrations in the domains of
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males
Ren-Hua Chung, Deqiong Ma, Kai Wang, Dale J Hedges, James M Jaworski, John R Gilbert, Michael L Cuccaro, Harry H Wright, Ruth K Abramson, Ioanna Konidari, Patrice L Whitehead, Gerard D Schellenberg, Hakon Hakonarson, Jonathan L Haines, Margaret A Pericak-Vance, Eden R Martin
Molecular Autism , 2011, DOI: 10.1186/2040-2392-2-18
Abstract: We analyzed genome-wide association study (GWAS) data on the X chromosome in three independent autism GWAS data sets: two family data sets and one case-control data set. We performed meta- and joint analyses on the combined family and case-control data sets. In addition to the meta- and joint analyses, we performed replication analysis by using the two family data sets as a discovery data set and the case-control data set as a validation data set.One SNP, rs17321050, in the transducin β-like 1X-linked (TBL1X) gene [OMIM:300196] showed chromosome-wide significance in the meta-analysis (P value = 4.86 × 10-6) and joint analysis (P value = 4.53 × 10-6) in males. The SNP was also close to the replication threshold of 0.0025 in the discovery data set (P = 5.89 × 10-3) and passed the replication threshold in the validation data set (P = 2.56 × 10-4). Two other SNPs in the same gene in linkage disequilibrium with rs17321050 also showed significance close to the chromosome-wide threshold in the meta-analysis.TBL1X is in the Wnt signaling pathway, which has previously been implicated as having a role in autism. Deletions in the Xp22.2 to Xp22.3 region containing TBL1X and surrounding genes are associated with several genetic syndromes that include intellectual disability and autistic features. Our results, based on meta-analysis, joint analysis and replication analysis, suggest that TBL1X may play a role in ASD risk.Autism spectrum disorder (ASD) is a complex disorder of neurodevelopmental origin which is characterized by a well-established set of social, communicative and behavioral impairments [1]. These impairments confer a significant burden on individuals with ASD and their families. This burden, in conjunction with a high ASD prevalence (about 1 in 100 children ages 3 to 17 years in the United States) [2], has spurred aggressive efforts to identify ASD risk genes. Often reported but poorly understood clinical phenomena with implications for gene discovery efforts in AS
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