Journal articles: 'Autism spectrum disorders – Testing'

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Bauer, Sarah C., and Michael E. Msall. "Genetic testing for autism spectrum disorders." Developmental Disabilities Research Reviews 17, no. 1 (2011): 3–8. http://dx.doi.org/10.1002/ddrr.131.

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Chen, Lei-Shih, Jungkyung Min, Shixi Zhao, Yu-Chen Yeh, and Tse-Yang Huang. "Information needs in genetic testing: A needs assessment survey among Taiwanese parents of children with autism spectrum disorders." Autism 23, no. 4 (August 3, 2018): 902–9. http://dx.doi.org/10.1177/1362361318778903.

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We conducted the first needs assessment study by examining the information needs in genetic testing for autism spectrum disorders among parents of children with autism spectrum disorders in Taiwan. Parents of children with autism spectrum disorders in 236 public elementary schools with special education services were invited to complete a survey. About two-thirds of participants (65.7%) had never heard about genetic testing for autism spectrum disorders. Yet, the majority (71.4%) expressed an interest in learning about this testing. The top three topics participants identified to assist them in making informed decisions before undergoing genetic testing (for themselves, their affected children, or other family members) were testing accuracy (79.7%), genetic causes of autism spectrum disorders (79.4%), and the link between testing and treatment (79.4%). A health education brochure (47.2%) was the most desired educational approach. Our results can be utilized to develop information and counseling materials for genetic testing for autism spectrum disorders in Taiwan as well as to address the needs of parents of children with autism spectrum disorders, particularly in informed decisions-making. Moreover, to promote better communication between the providers and parents, when discussing genetic testing for autism spectrum disorders with Taiwanese parents of children with autism spectrum disorders, healthcare professionals’ priorities should be in line with the preferred topics identified in this study.

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Wetherby, Amy M., Whitney Guthrie, Jessica L. Hooker, Abigail Delehanty, Taylor N. Day, Juliann Woods, Karen Pierce, et al. "The Early Screening for Autism and Communication Disorders: Field-testing an autism-specific screening tool for children 12 to 36 months of age." Autism 25, no. 7 (May 7, 2021): 2112–23. http://dx.doi.org/10.1177/13623613211012526.

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There is a critical need for validated screening tools for autism spectrum disorder in very young children so families can access tailored intervention services as early as possible. Few screeners exist for children between the recommended screening ages of 18–24 months. This study examined the utility of a new autism-specific parent-report screening tool, the Early Screening for Autism and Communication Disorders for children 12–36 months. Field-testing was conducted from five sites with 471 children screened for communication delays in primary care or referred for familial risk or concern for autism spectrum disorder. The Early Screening for Autism and Communication Disorders was evaluated in three age groups: 12–17, 18–23, and 24–36 months. A best-estimate diagnosis of autism spectrum disorder, developmental delay, or typical development was made. Receiver operating characteristic curves were examined for all 46 items and the 30 items that best discriminated autism spectrum disorder from the non-spectrum groups. Area under the curve estimates for the total were greater than 0.90 across age groups. Cutoffs were established for each age group with sensitivity between 0.86 and 0.92 and specificity between 0.74 and 0.85. Results provide preliminary support for the validity of the Early Screening for Autism and Communication Disorders as an autism-specific screener in children 12–36 months with elevated risk of communication delay or autism spectrum disorder. Lay abstract There is a critical need for accurate screening tools for autism spectrum disorder in very young children so families can access tailored intervention services as early as possible. However, there are few screeners designed for children 18–24 months. Developing screeners that pick up on the signs of autism spectrum disorder in very young children has proved even more challenging. In this study, we examined a new autism-specific parent-report screening tool, the Early Screening for Autism and Communication Disorders for children between 12 and 36 months of age. Field-testing was done in five sites with 471 children screened for communication delays in primary care or referred for familial risk or concern for autism spectrum disorder. The Early Screening for Autism and Communication Disorders was tested in three age groups: 12–17, 18–23, and 24–36 months. A best-estimate diagnosis of autism spectrum disorder, developmental delay, or typical development was made. Analyses examined all 46 items and identified 30 items that best discriminated autism spectrum disorder from the non-spectrum groups. Cutoffs were established for each age group with good sensitivity and specificity. Results provide preliminary support for the accuracy of the Early Screening for Autism and Communication Disorders as an autism-specific screener in children 12–36 months with elevated risk of communication delay or autism spectrum disorder.

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Sorokin, A. B. "Intellectual Disability and Autism Spectrum Disorders." Современная зарубежная психология 7, no. 1 (2018): 38–44. http://dx.doi.org/10.17759/jmfp.2018070104.

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The article introduces the modern understanding of intellectual disability as a diagnostic category. It is based on the description of the structure, recommended for professional use in the USA. The necessity of intellect testing in individuals with autism spectrum disorders is discussed alongside with its place among other diagnostic measures

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Cop, Esra, Pinar Yurtbasi, Ozgur Oner, and Kerim Munir. "Genetic testing in children with autism spectrum disorders." Anatolian Journal of Psychiatry 16, no. 6 (2015): 426. http://dx.doi.org/10.5455/apd.1414607917.

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Sheldrick-Michel, T. M., B. T. Morten, B. Niels, and I. Mirolyuba. "Neurobiology of Autism Spectrum Disorders." European Psychiatry 41, S1 (April 2017): S45—S46. http://dx.doi.org/10.1016/j.eurpsy.2017.01.199.

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Autism Spectrum Disorders (ASD) is a group of neurodevelopmental disorders with heterogeneous etiology characterized by deficits in social cognition, communication, and behavioral flexibility. Disturbances on molecular and cellular level in early brain development incl. intercellular communication, an unbalanced ratio between certain neuronal populations and maturation/differentiation process, oxidative stress, happening in embryonal stages, might be promising candidates to explain the development of autistic symptoms.In order to get a deeper understanding of these processes, valid “disease models” are pivotal. A new cutting edge technique, named brain organoids, has been highlighted as a promising candidate for obtaining a better “disease model”.Brain organoids derived from patients induced pluripotent stem cells (iPSC) follow in vivo timeline development; they also have the ability to recreate the right complexity of the brains, developmental stages. On the cellular and gene expression level, organoids demonstrate a high similarity to the developing brain in vivo and can therefore recapitulate early stages of the neurogenesis. To date organoids are the most relevant cellular in vitro platform for the understanding of the mechanisms behind ADS pathology. Investigations of “mini brains” at different time points in their development will give a wider and more detailed picture of the disease dynamic and thus the development of therapeutic and prevention strategies. It is a tool that can be used for effective high throughput screening of chemical compounds as potential drugs (“in sphero” drug testing). Organoids are a good modeling system for elucidating the role of epigenetic and environmental factors for development of ASD.Disclosure of interestThe authors declare that they have no competing interest.

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Reading, Richard. "Clinical genetic testing for patients with autism spectrum disorders." Child: Care, Health and Development 36, no. 4 (June 15, 2010): 599. http://dx.doi.org/10.1111/j.1365-2214.2010.01117_5.x.

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Bardikoff, Nicole, and Margaret McGonigle-Chalmers. "Testing nonverbal IQ in children with Autism Spectrum Disorders." Research in Autism Spectrum Disorders 8, no. 9 (September 2014): 1200–1207. http://dx.doi.org/10.1016/j.rasd.2014.06.007.

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Shen, Y., K. A. Dies, I. A. Holm, C. Bridgemohan, M. M. Sobeih, E. B. Caronna, K. J. Miller, et al. "Clinical Genetic Testing for Patients With Autism Spectrum Disorders." PEDIATRICS 125, no. 4 (March 15, 2010): e727-e735. http://dx.doi.org/10.1542/peds.2009-1684.

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Fründt, Odette, Wiebke Grashorn, Daniel Schöttle, Ina Peiker, Nicole David, Andreas K. Engel, Katarina Forkmann, Nathalie Wrobel, Alexander Münchau, and Ulrike Bingel. "Quantitative Sensory Testing in adults with Autism Spectrum Disorders." Journal of Autism and Developmental Disorders 47, no. 4 (February 3, 2017): 1183–92. http://dx.doi.org/10.1007/s10803-017-3041-4.

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Freitag, Christine M., Denise Haslinger, Afsheen Yousaf, and Regina Waltes. "Clinical genetic testing and counselling in autism spectrum disorder." Medizinische Genetik 32, no. 1 (May 1, 2020): 31–37. http://dx.doi.org/10.1515/medgen-2020-2001.

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Abstract Autism spectrum disorders (ASDs) are phenotypically as well as genetically heterogeneous developmental disorders with a strong heritability. Clinical and basic science research has described many replicated genetic risk factors. Many findings can well be translated into clinical human genetic practice. The current article summarizes results of genetic studies in ASD, provides a diagnostic algorithm for the clinical human genetic work-up reflecting the German health care system options and gives information with regard to the obligatory genetic counselling after a clinical genetic assessment.

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Lavrov, Nikanor V., and Petr D. Shabanov. "Autism spectrum disorders: etiology, treatment. models and experimental studies." Reviews on Clinical Pharmacology and Drug Therapy 16, no. 1 (March 15, 2018): 21–27. http://dx.doi.org/10.17816/rcf16121-27.

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The study of disorders of brain activity related to the violation of socialization is the current scientific problem. The article presents a review of the literature regarding the epidemiology, etiology and treatment of autism spectrum disorders. Special attention is paid to experimental models of autism, since simulation allows to test hypotheses about the nature of the disease and to carry out testing of new treatment methods. (For citation: Lavrov NV, Shabanov PD. Autism spectrum disorders: etiology, treatment. Models and experimental studies. Reviews on Clinical Pharmacology and Drug Therapy. 2018;16(1):21-27. doi: 10.17816/RCF16121-27).

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Caldani, Simona, Sarah Steg, Aline Lefebvre, Paola Atzori, Hugo Peyre, Richard Delorme, and Maria Pia Bucci. "Oculomotor behavior in children with autism spectrum disorders." Autism 24, no. 3 (November 2, 2019): 670–79. http://dx.doi.org/10.1177/1362361319882861.

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To identify quantitative indicators of social communication dysfunctions, we explored the oculomotor performances in subjects with autism spectrum disorders. Discordant findings in the literature have been reported for oculomotor behavior in subjects with autism spectrum disorders. This study aimed to explore reflexive and voluntary saccadic performance in a group of 32 children with autism spectrum disorders (mean age: 12.1 ± 0.5 years) compared to 32 age-, sex-, and IQ-matched typically developing children (control group). We used different types of reflexive and voluntary saccades: gap, step, overlap, and anti-saccades. Eye movements were recorded using an eye tracker (Mobile EBT®) and we measured latency, percentage of anticipatory and express saccades, errors of anti-saccades and gain. Children with autism spectrum disorders reported similar latency values with respect to typically developing children for reflexive and voluntary saccades; in contrast, they made more express and anticipatory saccades overall, as shown in paradigm testing (gap, step, overlap, and anti-saccades). Our findings support previous evidence of the atypicality of the cortical network, which is involved in saccade triggering and attentional processes in children with autism spectrum disorders.

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de Marchena, Ashley, Inge-Marie Eigsti, Amanda Worek, Kim Emiko Ono, and Jesse Snedeker. "Mutual exclusivity in autism spectrum disorders: Testing the pragmatic hypothesis." Cognition 119, no. 1 (April 2011): 96–113. http://dx.doi.org/10.1016/j.cognition.2010.12.011.

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Kollia, Betty, Corey H. Basch, Margaret T. Kamowski-Shakibai, Jim Tsiamtsiouris, and Philip Garcia. "Testing the Readability of Online Content on Autism Spectrum Disorders." Advances in Neurodevelopmental Disorders 3, no. 1 (February 9, 2019): 85–90. http://dx.doi.org/10.1007/s41252-019-0095-7.

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Richard, Donna Abely, William More, and Stephen P. Joy. "Recognizing Emotions: Testing an Intervention for Children With Autism Spectrum Disorders." Art Therapy 32, no. 1 (January 2, 2015): 13–19. http://dx.doi.org/10.1080/07421656.2014.994163.

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Vaughan, Sarah, Francis McGlone, Helen Poole, and David J. Moore. "A Quantitative Sensory Testing Approach to Pain in Autism Spectrum Disorders." Journal of Autism and Developmental Disorders 50, no. 5 (February 15, 2019): 1607–20. http://dx.doi.org/10.1007/s10803-019-03918-0.

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Sopov, V., and A. Shakirova. "Organization of the Process of Teaching Figure Skating Classes for Children with Autism Spectrum Disorders." Autism and Developmental Disorders 17, no. 4 (2019): 29–34. http://dx.doi.org/10.17759/autdd.2019170404.

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Figure skating is a sport that develops such mental and physical qualities as attention, self-control, speed, strength. Deficit of such qualities observed in children with autism spectrum disorders. A technique for teaching figure skating has been developed as a means of habilitating of children with autism spectrum disorders and mental disorders. Pilot testing of the technique was carried out in the inclusive section of adaptive figure skating “Crystal Puzzles”, Moscow. Fifteen children took part in the experimental testing: boys from 6 to 8 years old with autism spectrum disorders who regularly attend figure skating classes for at least 1 year. Classes were held in small groups from 2 to 5 people. For the competent organization of the training process, following recommendations were developed: tutorial support at the initial stage; educational material that takes into account the characteristics of each child; frontal and sagittal presentation; visual as well as partial and complete physical cues; dosing and reducing aid depending on the degree of development of skills. A survey of 15 parents confirmed the positive dynamics of children in the development of social, communicative and physical skills.

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Harrington, John W., Leonard Emuren, Kathryn Restaino, and Samantha Schrier Vergano. "Parental Perception and Participation in Genetic Testing Among Children With Autism Spectrum Disorders." Clinical Pediatrics 57, no. 14 (September 28, 2018): 1642–55. http://dx.doi.org/10.1177/0009922818803398.

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The purpose of this study was to determine the factors associated with genetic testing in children with autism spectrum disorders (ASDs) and understand parental involvement in the decision to test using survey data of parents of children with ASD. Evaluation by a geneticist was associated with genetic testing by more than 39 times compared to evaluation by a nongeneticist (95% CI = 9.15-168.81). Those offered testing by the physicians were more than 6 times more likely to be tested than those not offered testing (95% CI = 1.66-24.61). Financial concerns, not being offered testing, and lack of awareness were the most consistent reasons for not testing given by participants. A physician’s recommendation for testing and an evaluation by a geneticist were the most important factors associated with genetic testing in children with ASD. Educating primary care physicians and nongenetic specialists can potentially improve genetic testing among children with ASD.

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Fein, Deborah, Diana Robins, and Marianne Barton. "Testing two screening instruments for autism spectrum disorder." Developmental Medicine & Child Neurology 58, no. 3 (February 18, 2016): 314–15. http://dx.doi.org/10.1111/dmcn.12974.

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Janvier, Yvette M., Caroline N. Coffield, Jill F. Harris, David S. Mandell, and Zuleyha Cidav. "The Developmental Check-In: Development and initial testing of an autism screening tool targeting young children from underserved communities." Autism 23, no. 3 (May 1, 2018): 689–98. http://dx.doi.org/10.1177/1362361318770430.

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Children with autism spectrum disorder from low-income, minority families or those with limited English proficiency are diagnosed at a later age, or not at all, compared with their more advantaged peers. The Developmental Check-In is a new tool that could potentially be used to screen for autism that uses pictures to illustrate target behaviors. It was developed to enhance early identification of autism spectrum disorder in low literacy groups. The Developmental Check-In was tested in a sample of 376 children between the ages of 24 and 60 months, from underserved communities. It showed good ability to discriminate autism spectrum disorder from non-autism spectrum disorder (area-under-the-curve = 0.75) across the full age range represented in the sample. Twenty-six of the 28 Developmental Check-In items predicted the presence of autism spectrum disorder. Findings suggest that this pictorial tool may reduce linguistic and health literacy demands when screening for autism among vulnerable populations.

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Geier, David A., Janet K. Kern, Kristin G. Homme, and Mark R. Geier. "Abnormal Brain Connectivity Spectrum Disorders Following Thimerosal Administration." Dose-Response 15, no. 1 (March 1, 2017): 155932581769084. http://dx.doi.org/10.1177/1559325817690849.

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Background: Autism spectrum disorder (ASD), tic disorder (TD), and hyperkinetic syndrome of childhood (attention deficit disorder [ADD]/attention deficit hyperactivity disorder [ADHD]) are disorders recently defined as abnormal connectivity spectrum disorders (ACSDs) because they show a similar pattern of abnormal brain connectivity. This study examines whether these disorders are associated with exposure to thimerosal, a mercury (Hg)-based preservative. Methods: A hypothesis testing case-control study evaluated the Vaccine Safety Datalink for the potential dose-dependent odds ratios (ORs) for diagnoses of ASD, TD, and ADD/ADHD compared to controls, following exposure to Hg from thimerosal-containing Haemophilus influenzae type b vaccines administrated within the first 15 months of life. Febrile seizures, cerebral degeneration, and unspecified disorders of metabolism, which are not biologically plausibly linked to thimerosal, were examined as control outcomes. Results: On a per 25 μg Hg basis, cases diagnosed with ASD (OR = 1.493), TD (OR = 1.428), or ADD/ADHD (OR = 1.503) were significantly ( P < .001) more likely than controls to have received increased Hg exposure. Similar relationships were observed when separated by gender. Cases diagnosed with control outcomes were no more likely than controls to have received increased Hg exposure. Conclusion: The results suggest that Hg exposure from thimerosal is significantly associated with the ACSDs of ASD, TD, and ADD/ADHD.

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Pavăl, Denis. "A Dopamine Hypothesis of Autism Spectrum Disorder." Developmental Neuroscience 39, no. 5 (2017): 355–60. http://dx.doi.org/10.1159/000478725.

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Autism spectrum disorder (ASD) comprises a group of neurodevelopmental disorders characterized by social deficits and stereotyped behaviors. While several theories have emerged, the pathogenesis of ASD remains unknown. Although studies report dopamine signaling abnormalities in autistic patients, a coherent dopamine hypothesis which could link neurobiology to behavior in ASD is currently lacking. In this paper, we present such a hypothesis by proposing that autistic behavior arises from dysfunctions in the midbrain dopaminergic system. We hypothesize that a dysfunction of the mesocorticolimbic circuit leads to social deficits, while a dysfunction of the nigrostriatal circuit leads to stereotyped behaviors. Furthermore, we discuss 2 key predictions of our hypothesis, with emphasis on clinical and therapeutic aspects. First, we argue that dopaminergic dysfunctions in the same circuits should associate with autistic-like behavior in nonautistic subjects. Concerning this, we discuss the case of PANDAS (pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections) which displays behaviors similar to those of ASD, presumed to arise from dopaminergic dysfunctions. Second, we argue that providing dopamine modulators to autistic subjects should lead to a behavioral improvement. Regarding this, we present clinical studies of dopamine antagonists which seem to have improving effects on autistic behavior. Furthermore, we explore the means of testing our hypothesis by using neuroreceptor imaging, which could provide comprehensive evidence for dopamine signaling dysfunctions in autistic subjects. Lastly, we discuss the limitations of our hypothesis. Along these lines, we aim to provide a dopaminergic model of ASD which might lead to a better understanding of the ASD pathogenesis.

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Gillentine, Madelyn A., Tianyun Wang, and Evan E. Eichler. "Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies." Biomedicines 10, no. 11 (November 9, 2022): 2865. http://dx.doi.org/10.3390/biomedicines10112865.

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Rare diseases impact up to 400 million individuals globally. Of the thousands of known rare diseases, many are rare neurodevelopmental disorders (RNDDs) impacting children. RNDDs have proven to be difficult to assess epidemiologically for several reasons. The rarity of them makes it difficult to observe them in the population, there is clinical overlap among many disorders, making it difficult to assess the prevalence without genetic testing, and data have yet to be available to have accurate counts of cases. Here, we utilized large sequencing cohorts of individuals with rare, de novo monogenic disorders to estimate the prevalence of variation in over 11,000 genes among cohorts with developmental delay, autism spectrum disorder, and/or epilepsy. We found that the prevalence of many RNDDs is positively correlated to the previously estimated incidence. We identified the most often mutated genes among neurodevelopmental disorders broadly, as well as developmental delay and autism spectrum disorder independently. Finally, we assessed if social media group member numbers may be a valuable way to estimate prevalence. These data are critical for individuals and families impacted by these RNDDs, clinicians and geneticists in their understanding of how common diseases are, and for researchers to potentially prioritize research into particular genes or gene sets.

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S, Akila, Priyadharsni P, and Charu Nivedita M. "Suriyanamaskar Enhances Physical Fitness of Children with Autism Spectrum Disorder." International Research Journal of Tamil 3, no. 1 (January 30, 2021): 240–46. http://dx.doi.org/10.34256/irjt21126.

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In the recent past there is an increasing awareness on care for special needs population in India. Among all the disabilities Autism is gaining lot of attention and is found to be of most mainly due to the behavioral deviations of children. It is very important to identify children with autism as early as possible. This article being a scientific paper is being translated in Tamil to create awareness among the urban and rural families about autism, its identification, screening, diagnosis and intervention programs for children with autism. One among the most important traditional, natural, side effect free intervention is Yoga. Autism Spectrum Disorder refers to a group of complex neurodevelopment disorders characterized by repetitive and characteristic patterns of behavior and difficulties with social communication and interaction. The symptoms are present from early childhood and affect daily functioning. Evidence-based treatment options for Autism are limited. The objective of this investigation was to examine the effect of Yoga on selected physical fitness variables of children with autism. 20 high functional autistic children between 6 - 13 years were into yoga intervention for 6 weeks. Initial and final testing on physical fitness variables such as flexibility, coordination and strength were conducted. After of the training period post test was conducted on the dependent variables for both the groups. Based on the results it was concluded that the implication of Yoga practice might have been the source of its dominance on the improvement of physical fitness variables of children with autism.

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Harris, Holly K., Georgios D. Sideridis, William J. Barbaresi, and Elizabeth Harstad. "Pathogenic Yield of Genetic Testing in Autism Spectrum Disorder." Pediatrics 146, no. 4 (September 16, 2020): e20193211. http://dx.doi.org/10.1542/peds.2019-3211.

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Barton, Krysta S., Holly K. Tabor, Helene Starks, Nanibaa’ A. Garrison, Mercy Laurino, and Wylie Burke. "Pathways from autism spectrum disorder diagnosis to genetic testing." Genetics in Medicine 20, no. 7 (October 19, 2017): 737–44. http://dx.doi.org/10.1038/gim.2017.166.

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Ariefdjohan, Merlin, Yee Ming Lee, Danielle L. Stutzman, Sean LeNoue, and Marianne Z. Wamboldt. "The Utility of Pharmacogenetic-Guided Psychotropic Medication Selection for Pediatric Patients: A Retrospective Study." Pediatric Reports 13, no. 3 (July 28, 2021): 421–33. http://dx.doi.org/10.3390/pediatric13030049.

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Background: To describe trends and clinical experiences in applying commercial pharmacogenetic testing among pediatric patients with neuropsychiatric disorders. Methods: Demographic and clinical data of patients receiving GeneSight® testing from January 2015 to November 2016 at an urban pediatric hospital were retrospectively extracted from medical charts. Outcome data included pharmacogenetic test results and medication prescriptions before and after the test. Results: A total of 450 patients (12.1 ± 4.3 years) diagnosed with anxiety disorder, attention deficit hyperactivity disorder, developmental disorders including autism, and/or a mood disorder received testing, and 435 of them were prescribed medications. Comparing data before and after testing, the total number of psychotropic prescriptions were reduced by 27.2% and the number of prescribed medications with severe gene-drug interactions decreased from 165 to 95 (11.4% to 8.9% of total medications prescribed). Approximately 40% of actionable genetic annotation were related to CYP2CD6 and CYP2C19. Patients of Asian descent had significantly higher likelihood than other races of being classified as poor to intermediate metabolizers of antidepressants, mood stabilizers, and antipsychotics (p = 0.008, 0.007, and 0.001, respectively). Diagnoses, including autism spectrum disorder, were not associated with increased risks of severe gene-drug interactions. Conclusions: Pharmacogenetic testing in child and adolescent psychiatry is currently based on few clinically actionable genes validated by CPIC and/or FDA. Although this approach can be moderately utilized to guide psychotropic medication prescribing for pediatric patients with psychiatric disorders, clinicians should cautiously interpret test results while still relying on clinical experience and judgment to direct the final selection of medication.

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Stafford, Christine F., and Pedro A. Sanchez-Lara. "Impact of Genetic and Genomic Testing on the Clinical Management of Patients with Autism Spectrum Disorder." Genes 13, no. 4 (March 25, 2022): 585. http://dx.doi.org/10.3390/genes13040585.

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Research has shown that genetics play a key role in the development of autism spectrum disorder (ASD). ASD has been linked to many genes and is a prominent feature in numerous genetic disorders. A genetic evaluation should be offered to any patient who receives a diagnosis of ASD, including deep phenotyping and genetic testing when clinically indicated. When insurance does not cover genetic testing for ASD patients, the lack of medical utility is often cited as a reason for prior authorization request denial. However, ample evidence exists that genetic testing has the power to change clinical management in many of these patients. Genetic testing that results in a diagnosis guides clinicians to screen for associated medical conditions and can direct targeted medical interventions. Given the potential for clinically actionable results, it is important that genetic testing be available and accessible to all patients with ASD.

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Xu, Lei, Alice R. Richman, Linda C. Mitchell, Huabin Luo, and Yong-hui Jiang. "Factors Influencing Decisions About Prenatal Genetic Testing for Autism Among Mothers of Children with Autism Spectrum Disorders." Advances in Neurodevelopmental Disorders 4, no. 2 (February 21, 2020): 190–98. http://dx.doi.org/10.1007/s41252-020-00151-0.

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Gangi, Devon N., AJ Schwichtenberg, Ana-Maria Iosif, Gregory S. Young, Fam Baguio, and Sally Ozonoff. "Gaze to faces across interactive contexts in infants at heightened risk for autism." Autism 22, no. 6 (July 7, 2017): 763–68. http://dx.doi.org/10.1177/1362361317704421.

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Infant social-communicative behavior, such as gaze to the face of an interactive partner, is an important early developmental skill. Children with autism spectrum disorder exhibit atypicalities in social-communicative behavior, including gaze and eye contact. Behavioral differences in infancy may serve as early markers of autism spectrum disorder and help identify individuals at highest risk for developing the disorder. Researchers often assess social-communicative behavior in a single interactive context, such as during assessment with an unfamiliar examiner or play with a parent. Understanding whether infant behavior is consistent across such contexts is important for evaluating the validity of experimental paradigms and the generalizability of findings from one interactive context/partner to another. We examined infant gaze to the face of a social partner at 6, 9, and 12 months of age in infants who were later diagnosed with autism spectrum disorder, as well as low- and high-risk infants without autism spectrum disorder outcomes, across two interactive contexts: structured testing with an unfamiliar examiner and semi-structured play with a parent. By 9 months, infant gaze behavior was significantly associated between the two contexts. By 12 months, infants without autism spectrum disorder outcomes exhibited higher mean rates of gaze to faces during parent–child play than Mullen testing, while the gaze behavior of the autism spectrum disorder group did not differ by context—suggesting that infants developing autism spectrum disorder may be less sensitive to context or interactive partner. Findings support the validity of assessing infant social-communicative behavior during structured laboratory settings and suggest that infant behavior exhibits consistency across settings and interactive partners.

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Bobrowski-Khoury, Natasha, Vincent T. Ramaekers, Jeffrey M. Sequeira, and Edward V. Quadros. "Folate Receptor Alpha Autoantibodies in Autism Spectrum Disorders: Diagnosis, Treatment and Prevention." Journal of Personalized Medicine 11, no. 8 (July 24, 2021): 710. http://dx.doi.org/10.3390/jpm11080710.

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Folate deficiency and folate receptor autoimmune disorder are major contributors to infertility, pregnancy related complications and abnormal fetal development including structural and functional abnormalities of the brain. Food fortification and prenatal folic acid supplementation has reduced the incidence of neural tube defect (NTD) pregnancies but is unlikely to prevent pregnancy-related complications in the presence of folate receptor autoantibodies (FRAb). In pregnancy, these autoantibodies can block folate transport to the fetus and in young children, folate transport to the brain. These antibodies are prevalent in neural tube defect pregnancies and in developmental disorders such as cerebral folate deficiency (CFD) syndrome and autism spectrum disorder (ASD). In the latter conditions, folinic acid treatment has shown clinical improvement in some of the core ASD deficits. Early testing for folate receptor autoantibodies and intervention is likely to result in a positive outcome. This review discusses the first identification of FRAb in women with a history of neural tube defect pregnancy and FRAb’s association with sub-fertility and preterm birth. Autoantibodies against folate receptor alpha (FRα) are present in about 70% of the children with a diagnosis of ASD, and a significant number of these children respond to oral folinic acid with overall improvements in speech, language and social interaction. The diagnosis of folate receptor autoimmune disorder by measuring autoantibodies against FRα in the serum provides a marker with the potential for treatment and perhaps preventing the pathologic consequences of folate receptor autoimmune disorder.

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Elhaddadi, Mounia, Houriya Maazouz, Nabil Alami, Moulay M'hammed Drissi, Coffi Sèdégnan Mènon, Mohamed Latifi, and Ahmed Omar Touhami Ahami. "SERIOUS GAMES TO TEACH EMOTION RECOGNITION TO CHILDREN WITH AUTISM SPECTRUM DISORDERS (ASD)." Acta Neuropsychologica 19, no. 1 (January 13, 2021): 81–92. http://dx.doi.org/10.5604/01.3001.0014.7569.

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The serious game "JeStiMulE" (Educational Game for Multisensory Stimulation of Children with developmental disorders), developed by the Autism Resources Center of Nice, was created to teach social cognition including emotion recognition for children and adolescents with autism. The purpose of our study is to investigate the effectiveness of the serious game JESTIMULE in remediating recognition' deficits of emotional facial expressions (EFE) in autistic children. Thirty-two Moroccan children and adolescents were recruited for this study. All participants received a diagnosis of autism spectrum disorder (ASD) based on the Diagnostic and Statistical Manual of Mental Diseases, Fourth Edition (DSM-IV-R) criteria for ASD, as well as the Rimland Checklist E2. IQ level has been assessed by using Raven's Progressive Matrices as an IQ testing scale. The participants received two one-hour JeStiMulE sessions per week over four weeks. Game data were collected for each participant. The Faces test was used to quantify the progression of the ability to recognize emotions in our subjects. The results of the descriptive analyses showed suitable adaptability, effectiveness and efficiency of JeStiMulE. In Faces test, a significant difference between scores of the Pre-intervention and Post-intervention (Z= -3.58, p<0.001), in favour of the Post-intervention (M=23.22, SD=2.96 versus M=27.27, SD=2.77). That indicate that participants were more accurate at recognizing emotions after JeStiMulE. In addition, a main effect of type of autism was found for the facial scale (H = 6.673, ddl = 2, p = 0.036). High-functioning autism were significantly better than Low-functioning autism at recognizing emotions from faces in both Pre-intervention and Post-intervention. With such non-verbal tool, training could start early. Thus, early management, the more the progression in the recognition and imitation of facial expressions is important, the more we gain autonomy and social integration just in time to begin school.

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Rohde, Melanie S., Alexandra L. Georgescu, Kai Vogeley, Rolf Fimmers, and Christine M. Falter-Wagner. "Absence of sex differences in mental rotation performance in autism spectrum disorder." Autism 22, no. 7 (August 4, 2017): 855–65. http://dx.doi.org/10.1177/1362361317714991.

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Mental rotation is one of the most investigated cognitive functions showing consistent sex differences. The ‘Extreme Male Brain’ hypothesis attributes the cognitive profile of individuals with autism spectrum disorder to an extreme version of the male cognitive profile. Previous investigations focused almost exclusively on males with autism spectrum disorder with only limited implications for affected females. This study is the first testing a sample of 12 female adults with high-functioning autism spectrum disorder compared to 14 males with autism spectrum disorder, 12 typically developing females and 14 typically developing males employing a computerised version of the mental rotation test. Reaction time and accuracy served as dependent variables. Their linear relationship with degree of rotation allows separation of rotational aspects of the task, indicated by slopes of the psychometric function, and non-rotational aspects, indicated by intercepts of the psychometric function. While the typical and expected sex difference for rotational task aspects was corroborated in typically developing individuals, no comparable sex difference was found in autism spectrum disorder individuals. Autism spectrum disorder and typically developing individuals did not differ in mental rotation performance. This finding does not support the extreme male brain hypothesis of autism.

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Graf, William D., Geoffrey Miller, Leon G. Epstein, and Isabelle Rapin. "The autism “epidemic”." Neurology 88, no. 14 (March 8, 2017): 1371–80. http://dx.doi.org/10.1212/wnl.0000000000003791.

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Classic autism has gradually evolved into the concept of a larger “spectrum disorder.” The rising prevalence of autism and autism spectrum disorder (autism/ASD) diagnoses can be largely attributed to broader diagnostic criteria, adoption of dimensional assessment strategies, increased awareness, linking of services to diagnosis, and the inclusion of milder neurodevelopmental differences bordering on normality. The spectrum disorder diagnosis raises numerous bioethical issues for individuals and society. Three groups of caregivers have important ethical, legal, and social obligations to individuals with autism/ASD: (1) families and advocates of individuals with autism/ASD; (2) health care and other professionals; and (3) governments. Each group may have different views of autism/ASD diagnostic criteria, screening, testing, and the effectiveness of various interventions. All see timely diagnosis as desirable, but earlier diagnosis may not be better, morally or practically. The growing practice of genetic testing in milder ASD raises ethical questions because of its uncertain scientific validity and limited clinical utility. Individuals with autism/ASD have various kinds of needs but all want acceptance and most deserve better accommodations. Governments struggle to provide a fair allocation of appropriate special education and supportive services. This article examines the evolving dimensions of the autism/ASD diagnosis, outlines certain bioethics principles related to its evaluation and management, reviews relevant laws and disability rights, and emphasizes the societal obligation to recognize neurodevelopmental variation and human neurodiversity. Future directions in the evaluation and care of autism/ASD should attempt to integrate the roles and responsibilities of all agents caring for each unique autistic individual.

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Foti, F., F. De Crescenzo, G. Vivanti, D. Menghini, and S. Vicari. "Implicit learning in individuals with autism spectrum disorders: a meta-analysis." Psychological Medicine 45, no. 5 (August 15, 2014): 897–910. http://dx.doi.org/10.1017/s0033291714001950.

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Background.Individuals with autism spectrum disorders (ASDs) are characterized by social communication difficulties and behavioural rigidity. Difficulties in learning from others are one of the most devastating features of this group of conditions. Nevertheless, the nature of learning difficulties in ASDs is still unclear. Given the relevance of implicit learning for social and communicative functioning, a link has been hypothesized between ASDs and implicit learning deficit. However, studies that have employed formal testing of implicit learning in ASDs provided mixed results.Method.We undertook a systematic search of studies that examined implicit learning in ASDs using serial reaction time (SRT), alternating serial reaction time (ASRT), pursuit rotor (PR), and contextual cueing (CC) tasks, and synthesized the data using meta-analysis. A total of 11 studies were identified, representing data from 407 individuals with ASDs and typically developing comparison participants.Results.The results indicate that individuals with ASDs do not differ in any task considered [SRT and ASRT task: standardized mean difference (SMD) −0.18, 95% confidence interval (CI) −0.71 to 0.36; PR task: SMD −0.34, 95% CI −1.04 to 0.36; CC task: SMD 0.27, 95% CI −0.07 to 0.60].Conclusions.Based on our synthesis of the existing literature, we conclude that individuals with ASDs can learn implicitly, supporting the hypothesis that implicit learning deficits do not represent a core feature in ASDs.

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Callenmark, Björn, Lars Kjellin, Louise Rönnqvist, and Sven Bölte. "Explicit versus implicit social cognition testing in autism spectrum disorder." Autism 18, no. 6 (October 8, 2013): 684–93. http://dx.doi.org/10.1177/1362361313492393.

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Genovese, Ann, and Merlin G. Butler. "Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD)." International Journal of Molecular Sciences 21, no. 13 (July 2, 2020): 4726. http://dx.doi.org/10.3390/ijms21134726.

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Autism spectrum disorder (ASD) consists of a genetically heterogenous group of neurobehavioral disorders characterized by impairment in three behavioral domains including communication, social interaction, and stereotypic repetitive behaviors. ASD affects more than 1% of children in Western societies, with diagnoses on the rise due to improved recognition, screening, clinical assessment, and diagnostic testing. We reviewed the role of genetic and metabolic factors which contribute to the causation of ASD with the use of new genetic technology. Up to 40 percent of individuals with ASD are now diagnosed with genetic syndromes or have chromosomal abnormalities including small DNA deletions or duplications, single gene conditions, or gene variants and metabolic disturbances with mitochondrial dysfunction. Although the heritability estimate for ASD is between 70 and 90%, there is a lower molecular diagnostic yield than anticipated. A likely explanation may relate to multifactorial causation with etiological heterogeneity and hundreds of genes involved with a complex interplay between inheritance and environmental factors influenced by epigenetics and capabilities to identify causative genes and their variants for ASD. Behavioral and psychiatric correlates, diagnosis and genetic evaluation with testing are discussed along with psychiatric treatment approaches and pharmacogenetics for selection of medication to treat challenging behaviors or comorbidities commonly seen in ASD. We emphasize prioritizing treatment based on targeted symptoms for individuals with ASD, as treatment will vary from patient to patient based on diagnosis, comorbidities, causation, and symptom severity.

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Kresnia, Gabriele Mustika, and Arli Aditya Parikesit. "Use of Artificial Intelligence in the Diagnostics of Autism Spectrum Disorder." Cermin Dunia Kedokteran 49, no. 6 (May 25, 2022): 341. http://dx.doi.org/10.55175/cdk.v49i6.1886.

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<p>Autism Spectrum Disorder (ASD) is a neurologic development disorder; it is listed in the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-V). Early diagnosis is critical in improving the life quality of individuals affected by ASD. Several studies show that Artificial Intelligence can be used in the diagnosis of ASD through biological means such as observing patient EEG data and surveying their genome. Articles were searched in the PUBMED database, ScienceDirect and Springer Link between 2019 - 2020. Four papers were selected for review. The papers were able to devise models that can accurately predict ASD in affected individuals, though some are based on old data and/or require testing on larger datasets to determine accuracy. As ASD diagnosis usually cannot be achieved before the individual shows symptoms, AI has the potential to improve ASD diagnosis in affected individuals. Further study to confirm the models and test on larger, more recent datasets would be required to develop more accurate models and achieve even better results.</p><p>Autism Spectrum Disorder (ASD) merupakan salah satu gangguan perkembangan saraf yang tercantum pada Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-V). Diagnosis dini sangat penting untuk meningkatkan kualitas hidup individu ASD. Beberapa penelitian menunjukkan bahwa Kecerdasan Buatan dapat digunakan untuk diagnosis ASD melalui metode berbasis biologis seperti mengamati data EEG pasien dan mensurvei genomnya. Review ini berbasis pencarian data antara 2019 – 2020 di database PUBMED, ScienceDirect dan Springer Link. Empat makalah kunci dipilih untuk ditinjau. Makalah-makalah tersebut mampu merancang model yang dapat memprediksi ASD secara akurat, meskipun beberapa aspek implementasinya didasarkan pada data usang dan/atau memerlukan pengujian pada kumpulan data yang lebih besar untuk menentukan akurasi. Mengingat diagnosis ASD biasanya tidak dapat dilakukan sebelum individu menunjukkan gejala sekunder, kecerdasan buatan berpotensi meningkatkan keandalan diagnosis ASD. Masih diperlukan studi lanjutan untuk mengkonfirmasi model dan pengujian pada kumpulan data yang lebih besar dan lebih baru untuk mengembangkan model yang memiliki presisi lebih baik dan hasil lebih akurat.</p>

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Velkey, Andrew J., Caroline H. Koon, Isabel A. Danstrom, and Katie M. Wiens. "Female zebrafish (Danio rerio) demonstrate stronger preference for established shoals over newly-formed shoals in the three-tank open-swim preference test." PLOS ONE 17, no. 9 (September 21, 2022): e0265703. http://dx.doi.org/10.1371/journal.pone.0265703.

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Zebrafish (Danio rerio) share a considerable amount of biological similarity with mammals, including identical or homologous gene expression pathways, neurotransmitters, hormones, and cellular receptors. Zebrafish also display complex social behaviors like shoaling and schooling, making them an attractive model for investigating normal social behavior as well as exploring impaired social function conditions such as autism spectrum disorders. Newly-formed and established shoals exhibit distinct behavior patterns and inter-member interactions that can convey the group’s social stability. We used a three-chamber open-swim preference test to determine whether individual zebrafish show a preference for an established shoal over a newly-formed shoal. Results indicated that both sexes maintained greater proximity to arena zones nearest to the established shoal stimulus. In addition, we report the novel application of Shannon entropy to discover sex differences in systematicity of responses not revealed by unit-based measurements; male subjects spent more time investigating between the two shoals than female subjects. This novel technique using established versus newly-formed shoals can be used in future studies testing transgenics and pharmacological treatments that mimic autism spectrum disorder and other disorders that affect social interaction.

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Abdelwahed, M., R. Jackson, N. Yurtsever, R. Singh, C. Trunca, R. Dompreh, C. Herman, N. Cohen, C. Simotas, and T. Rousseau-pierre. "Interstitial Duplication on Chromosome 3p14.3p13 in an Adolescent with Dysmorphic Features and Autism, Case Report." American Journal of Clinical Pathology 158, Supplement_1 (November 1, 2022): S47—S48. http://dx.doi.org/10.1093/ajcp/aqac126.092.

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Abstract Introduction/Objective The genetic etiology of autism spectrum disorders is only partially understood. Here we describe a 16-year-old male diagnosed with autism at two years of age. He has dysmorphic features, severe cognitive disability, and history of cryptorchidism. A review of systems was significant for slightly coarse features overall, with deep-set eyes, pinched nasal bridge with wide nasal tip, and widely spaced teeth. A large pectus excavatum deformity was also noted. Although the parent’s genetic testing concluded that this likely represents de novo mutation, it is worth mentioning that our patient has a 13-year-old female maternal first cousin with learning difficulties that were said to be less severe. There is no other family history of autism. Methods/Case Report Chromosome analysis showed an abnormal karyotype identifying a duplication of the short arm of chromosome 3 from p13 to p14.3, 46,XY,dup(3)(p13p14.3). Additional microarray testing confirmed this duplication and defined the size as 14.9 Mb. Regions of homozygosity of 29.8 Mb were also identified, representing about 1% of the autosomal genome. The duplicated area includes over 70 genes, thirteen of which are known Mendelian disease genes (IL17RD, HESX1, APPL1, FLNB, DNASEIL3, PDHB, ACOX2, ATXN7, SLC25A26, EOGT, LMOD3, MITF, and FOXP1). Duplications of 3p are extremely rare and can be de novo or inherited from a parent with a balanced translocation. Individuals with these better-described chromosome 3p duplications typically present with intellectual and developmental disabilities, such as autism, as 3p duplications typically present with intellectual and developmental disabilities, such as autism and distinctive dysmorphic features. This duplication has never been reported as a known syndrome and has minimal overlap with copy number variants (CNVs) among healthy individuals. Results (if a Case Study enter NA) NA Conclusion Autism spectrum disorders are largely characterized by speech, communication, and social impairment of varying degrees. Diagnosis is typically made on clinical grounds, but in 14-35% of cases, a genetic basis for the disorder, typically either due to a single gene disorder or a chromosomal deletion/duplication, may be found. This case report describes a rare finding of a 14.9 Mb interstitial duplication on chromosome 3p.

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King, Diane, and Olympia Palikara. "Assessing language skills in adolescents with autism spectrum disorder." Child Language Teaching and Therapy 34, no. 2 (June 2018): 101–13. http://dx.doi.org/10.1177/0265659018780968.

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Language abilities in adolescents with autism spectrum disorders (ASDs) are variable and can be challenging to ascertain with confidence. This study aimed to compare and evaluate different forms of language assessment: standardized language testing, narrative analysis and parent/teacher reports. 14 adolescents with ASD and 14 typically developing adolescents matched on age, gender and nonverbal ability were assessed using a number of standardized assessments for receptive and expressive language skills, a standardized narrative test, two experimental narrative assessments and a parent/teacher report measure of pragmatics. The findings were that, although adolescents with ASD scored within the normal range on expressive and receptive language, their performance on narrative tasks revealed difficulties with both structural and evaluative language. It should be noted that both teachers and parents rated the pragmatic language skills of the young people with ASD as significantly lower than those of the typically developing group but parents were more likely than teachers to additionally identify difficulties in speech and syntax. The implications of these results for professionals in terms of assessing the language skills of adolescents with ASD and for the planning of appropriate intervention are discussed.

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Peabody, John, Lisa DeMaria, Diana Tamandong-LaChica, Jhiedon Florentino, Maria Czarina Acelajado, and Trever Burgon. "Low Rates of Genetic Testing in Children With Developmental Delays, Intellectual Disability, and Autism Spectrum Disorders." Global Pediatric Health 2 (January 1, 2015): 2333794X1562371. http://dx.doi.org/10.1177/2333794x15623717.

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To explore the routine and effective use of genetic testing for patients with intellectual disability and developmental delay (ID/DD), we conducted a prospective, randomized observational study of 231 general pediatricians (40%) and specialists (60%), using simulated patients with 9 rare pediatric genetic illnesses. Participants cared for 3 randomly assigned simulated patients, and care responses were scored against explicit evidence-based criteria. Scores were calculated as a percentage of criteria completed. Care varied widely, with a median overall score of 44.7% and interquartile range of 36.6% to 53.7%. Diagnostic accuracy was low: 27.4% of physicians identified the correct primary diagnosis. Physicians ordered chromosomal microarray analysis in 55.7% of cases. Specific gene sequence testing was used in 1.4% to 30.3% of cases. This study demonstrates that genetic testing is underutilized, even for widely available tests. Further efforts to educate physicians on the clinical utility of genetic testing may improve diagnosis and care in these patients.

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Golnik, Allison, Nadia Maccabee-Ryaboy, Peter Scal, Andrew Wey, and Philippe Gaillard. "Shared Decision Making: Improving Care for Children with Autism." Intellectual and Developmental Disabilities 50, no. 4 (August 1, 2012): 322–31. http://dx.doi.org/10.1352/1934-9556-50.4.322.

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Abstract We assessed the extent to which parents of children with autism spectrum disorder report that they are engaged in shared decision making. We measured the association between shared decision making and (a) satisfaction with care, (b) perceived guidance regarding controversial issues in autism spectrum disorder, and (c) perceived assistance navigating the multitude of treatment options. Surveys assessing primary medical care and decision-making processes were developed on the basis of the U.S. Department of Health and Human Service's Consumer Assessment of Healthcare Providers and Systems survey. In May 2009, after pilot testing, we sent surveys to 203 parents of children from ages 3 to 18 with International Classification of Diseases–9 and parent-confirmed autism spectrum disorder diagnoses. The response rate was 64%. Controlling for key demographic variables, parents of children with autism spectrum disorder reporting higher levels of shared decision making reported significantly greater satisfaction with the overall quality of their child's health care (p ≤ .0001). Parents reporting higher levels of shared decision making were also significantly more likely to report receiving guidance on the many treatment options (p = .0002) and controversial issues related to autism spectrum disorder (p = .0322). In this study, shared decision making was associated with higher parent satisfaction and improved guidance regarding treatments and controversial issues within primary care for children with autism spectrum disorder.

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Li, Ming, Shi-Xi Zhao, Wei-Ju Chen, Tse-Yang Huang, and Lei-Shih Chen. "Knowledge and Attitudes toward Genetic Testing for Autism Spectrum Disorders among Parents of Affected Children in Taiwan." Genes 13, no. 2 (January 27, 2022): 239. http://dx.doi.org/10.3390/genes13020239.

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The prevalence of autism spectrum disorders (ASD) in Taiwan has been increasing, and genetic testing for ASD has been available and provided to parents of children diagnosed with ASD in Taiwan. However, there is still limited understanding of Taiwanese parents’ knowledge of and attitudes toward such testing. Therefore, the present study addressed this gap by assessing the attitudes toward as well as actual and perceived knowledge of ASD genetic testing among Taiwanese parents of children diagnosed with ASD. A sample of 443 parents of children with ASD recruited from 236 public schools in Taiwan completed a paper-and-pencil survey. Although parents generally held favorable attitudes toward ASD genetic testing, they had deficient knowledge of such test (with only a 31.4% average correct rate on the actual knowledge scale). Tailored health education materials should be developed to improve the knowledge of ASD genetic testing among parents with affected children in Taiwan.

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Neufeld, Janina, Lisa Hederos Eriksson, Richard Hammarsten, Karl Lundin Remnélius, Julian Tillmann, Johan Isaksson, and Sven Bölte. "The impact of atypical sensory processing on adaptive functioning within and beyond autism: The role of familial factors." Autism 25, no. 8 (August 2, 2021): 2341–55. http://dx.doi.org/10.1177/13623613211019852.

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Atypical sensory processing is prevalent across neurodevelopmental conditions and a key diagnostic criterion of autism spectrum disorder. It may have cascading effects on the development of adaptive functions. However, its unique contribution to adaptive functioning and the genetic/environmental influences on this link are unclear. In a clinically enriched twin sample ( n = 289, 60 diagnosed with autism spectrum disorder), we investigated the associations between the quadrants of the Adult/Adolescent Sensory Profile (low registration, sensory sensitivity, sensation seeking, and sensation avoiding) and adaptive functioning. Associations were modeled across the cohort accounting for the effects of clinical diagnosis, IQ, sex and age, and within-twin pairs, additionally implicitly adjusting for familial factors. Furthermore, we explored interaction effects between atypical sensory processing and autism spectrum disorder diagnosis. Sensory sensitivity and sensation avoiding were associated with reduced adaptive functioning across individuals, but not within-twin pairs. An interaction effect was found between sensation seeking and autism spectrum disorder diagnosis, showing a negative association between sensation seeking and adaptive functioning only in individuals diagnosed with autism spectrum disorder. The results suggest that atypical sensory processing is associated with reduced adaptive functioning and that familial factors influence this link. In addition, sensation seeking behaviors might interfere with adaptive functioning specifically in individuals with autism spectrum disorder. Lay abstract Individuals diagnosed with autism tend to process sensory information differently than individuals without autism, resulting for instance in increased sensitivity to sounds or smells. This leads to challenges in everyday life and may restrict the individual’s daily functioning. How direct this link is, however, is currently unclear. We investigated this question in 289 twins of whom 60 were diagnosed with autism and further 61 were diagnosed with other neurodevelopmental disorders. We looked at the association between unusual sensory processing and adaptive skills, both across individuals and within-twin pairs, testing whether individuals with higher levels of atypical sensory processing showed reduced adaptive skills compared to their twins. Since twins share 50%–100% of their genes and part of their environment (e.g. family background), associations within-twin pairs are free from effects of these familial factors. We found that an increased sensitivity to, as well as the avoiding of, sensory input (hyper-responsiveness) was linked to reduced adaptive skills across individuals—but not within-twin pairs. We also found an association between the degree to which individuals seek for sensory input (sensation seeking) and reduced adaptive skills, but only in individuals diagnosed with autism. The results suggest that sensory hyper-responsiveness has negative effects on individuals’ general ability to function, but that this link is influenced by familial factors and hence not direct. In addition, sensation seeking behaviors might have a negative impact on adaptive skills specifically in autistic individuals.

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Chen, Lei-Shih, Lei Xu, Tse-Yang Huang, and Shweta U. Dhar. "Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders." Genetics in Medicine 15, no. 4 (January 3, 2013): 274–81. http://dx.doi.org/10.1038/gim.2012.145.

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Pavăl, Denis, and Ioana Valentina Micluția. "The Dopamine Hypothesis of Autism Spectrum Disorder Revisited: Current Status and Future Prospects." Developmental Neuroscience 43, no. 2 (2021): 73–83. http://dx.doi.org/10.1159/000515751.

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Autism spectrum disorder (ASD) comprises a group of neurodevelopmental disorders characterized by social deficits and stereotyped behaviors. Despite intensive research, its etiopathogenesis remains largely unclear. Although studies consistently reported dopaminergic anomalies, a coherent dopaminergic model of ASD was lacking until recently. In 2017, we provided a theoretical framework for a “dopamine hypothesis of ASD” which proposed that autistic behavior arises from a dysfunctional midbrain dopaminergic system. Namely, we hypothesized that malfunction of 2 critical circuits originating in the midbrain, that is, the mesocorticolimbic and nigrostriatal pathways, generates the core behavioral features of ASD. Moreover, we provided key predictions of our model along with testing means. Since then, a notable number of studies referenced our work and numerous others provided support for our model. To account for these developments, we review all these recent data and discuss their implications. Furthermore, in the light of these new insights, we further refine and reconceptualize our model, debating on the possibility that various etiologies of ASD converge upon a dysfunctional midbrain dopaminergic system. In addition, we discuss future prospects, providing new means of testing our hypothesis, as well as its limitations. Along these lines, we aimed to provide a model which, if confirmed, could provide a better understanding of the etiopathogenesis of ASD along with new therapeutic strategies.

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Koumpouros, Yiannis. "Game-Based Learning to Enhance the Reading Ability of Children With Autism or Other Learning Difficulties." International Journal of Reliable and Quality E-Healthcare 9, no. 4 (October 2020): 30–35. http://dx.doi.org/10.4018/ijrqeh.2020100105.

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The paper presents the design of a highly customizable game for children with autism spectrum disorder facing learning difficulties. The same solution can be used for children with or without other developmental disorders facing learning difficulties. The scope of the research was to create a generic solution to facilitate the learning process of reading in the targeted population. The latest pedagogical approaches (TEACCH, PECS, ABA, Makaton, etc.) are combined with appropriate gamification techniques to produce the desired outcome. The game has been developed with the unity game engine in order to run in any device. The final solution has been pilot tested in a small group of highly-functioning children with autism. The results of the design process and the early findings from the pilot testing are presented in the current paper.

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Jenkin, Brock, and Clare Mitchell. "CHROMOSOMAL MICROARRAY TESTING IN A DEVELOPMENTAL PAEDIATRICS SETTING." Paediatrics & Child Health 23, suppl_1 (May 18, 2018): e33-e33. http://dx.doi.org/10.1093/pch/pxy054.086.

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Abstract BACKGROUND Current guidelines recommend chromosomal microarray (CMA) testing as a first line etiologic investigation for developmental disorders such as intellectual disability or autism spectrum disorder (ASD). How often a copy number variation (CNV) is found, a definitive etiologic diagnosis is made and a change in clinical management occurs has not been well studied in a community setting. OBJECTIVES The study objective was to examine the real world use of CMA testing in a developmental paediatric setting: the prevalence of positive results and management decisions. DESIGN/METHODS This was a retrospective, descriptive study. The charts of 170 children seen by a single developmental paediatrician in a small city over a 7 year period (2010 - 2017) were reviewed. Referrals were received from both urban and rural communities. Information regarding reason for referral, clinical diagnosis, requests for CMA testing, test results and subsequent management decisions were extracted. The patient age ranged from 1 to 18 years (average 5.1 years). Children were referred for a wide variety of developmental and behavioural problems. Developmental delay, disruptive behavior, possible autism spectrum disorder or speech delay were the most common reasons for referral. Children were considered for CMA testing according to published guidelines. The most common clinical diagnoses in referred children were attention deficit hyperactivity disorder (ADHD), ASD and global developmental delay (GDD). Clinical management decisons were obtained from the medical chart and included follow-up visits. RESULTS CMA testing was recommended for 78 children, of which 65 had CMA testing completed (83%). Of these, 15 (23%) had an abnormal result and 6 (9%) were deemed pathogenic. The most common finding was a CNV at 2p16.3 in 2 children (3%). Of the children with pathogenic CNVs, 3 (50%) had more than one CNV. One child had a previously diagnosed trisomy X. One child with normal CMA had further testing, and a genetic diagnosis of atypical Rett Syndrome was made. The primary management decisions based on the CMA test results included parent education, genetic counselling and prognosis clarification. CONCLUSION In a developmental paediatrics setting, the use of CMA testing for first-line etiologic assessment in children with developmental disorders obtains positive results in close to 10% of tested children. This is similar to previously published results. Approximately 1/6 tested children had results of uncertain significance which require further study over time.

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Journal articles on the topic 'Autism spectrum disorders – Testing'

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