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The Broader Autism Phenotype and Its Implications on the Etiology and Treatment of Autism Spectrum Disorders  [PDF]
Jennifer Gerdts,Raphael Bernier
Autism Research and Treatment , 2011, DOI: 10.1155/2011/545901
Abstract: The presence of autism-related traits has been well documented in undiagnosed family members of individuals with autism spectrum disorder (ASD). The most common finding is mild impairments in social and communication skills that are similar to those shown by individuals with autism, but exhibited to a lesser degree. Termed the broader autism phenotype (BAP), these traits suggest a genetic liability for autism-related traits in families. Genetic influence in autism is strong, with identical twins showing high concordance for the diagnosis and related traits and approximately 20% of all ASD cases having an identified genetic mechanism. This paper highlights the studies conducted to date regarding the BAP and considers the implications of these findings for the etiology and treatment of ASD. 1. Autism Spectrum Disorders Autism Spectrum Disorder (ASD), including Autistic Disorder, Asperger’s Disorder, and Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS), is both genetically and phenotypically heterogeneous. ASD is diagnosed in males four times more often than in females, approximately 65% of individuals with ASD have cooccurring intellectual disability [1], language abilities range from nonverbal to verbally fluent [2], and regression between one and two years of age (mean age 17 months) is reported in approximately one-third of all cases [3]. Genetic heterogeneity is noted in ASD as well. Genetic influence in autism is strong, with concordance rates in twins ranging from 60–96% in monozygotic (MZ) twins compared to 0?23% in dizygotic (DZ) twins depending upon the sample and diagnostic boundaries [4–6]. Approximately 10–20% of ASD cases likely have a genetic cause through an identifiable genetic syndrome, observable genetic mutation, or de novo copy number variant (CNV; [7]). Nearly 20 mutations relevant in ASD have been identified to date, with more likely on the horizon [7]. However, no single genetic mutation explains a large number of ASD cases and the presence of any one of the risk CNVs does not necessarily prescribe a diagnosis. 2. Broader Autism Phenotype Psychological characteristics of relatives of children with ASD were first noted in Leo Kanner’s 1943 paper in which he noted “For the most part, the parents, grandparents, and collaterals are persons strongly preoccupied with abstractions of a scientific, literary, or artistic nature, and limited in genuine interest in people [44, page 250].” Empirical studies following this line of research initially focused on rates of cognitive disorders, such as intellectual disability,
Assessment and Treatment in Autism Spectrum Disorders: A Focus on Genetics and Psychiatry  [PDF]
Merlin G. Butler,Erin L. Youngs,Jennifer L. Roberts,Jessica A. Hellings
Autism Research and Treatment , 2012, DOI: 10.1155/2012/242537
Abstract: Autism spectrum disorders (ASDs) are neurobehavioral disorders characterized by abnormalities in three behavioral domains including social interaction, impaired communication, and repetitive stereotypic behaviors. ASD affects approximately 1% of children and is on the rise with significant genetic mechanisms underlying these disorders. We review the current understanding of the role of genetic and metabolic factors contributing to ASD with the use of new genetic technology. Fifty percent is diagnosed with chromosomal abnormalities, small DNA deletions/duplications, single-gene conditions, or metabolic disturbances. Genetic evaluation is discussed along with psychiatric treatment and approaches for selection of medication to treat associated challenging behaviors or comorbidities seen in ASD. We emphasize the importance of prioritizing treatment based on target symptom clusters and in what order for individuals with ASD, as the treatment may vary from patient to patient. 1. Introduction Classical autism which was first described in 1943 [1] belongs to a group of heterogeneous disorders known as autism spectrum disorders (ASD). These neurobehavioral disorders are characterized by abnormalities in three behavioral domains including disturbances in social interaction, impaired communication skills, and repetitive stereotypic behaviors with an onset recognized prior to 3 years of age [2]. ASD includes not only classical autism (autistic disorder) but also asperger disorder (high functioning) and pervasive developmental disorder not otherwise specified (PDD-NOS) [2–6]. The American Academy of Pediatrics recommends autism screening of all infants and toddlers for early identification and intervention by at least 12 months of age and again at 24 months. Several validated rating scales are helpful in establishing the diagnosis, including Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS), in combination with clinical presentation [7–9]. Specialist assessments and work-ups are available usually at university hospitals and university-affiliated programs and ideally should include regular visits at least annually depending on the chief complaint with a psychologist specializing in ASD, a psychiatrist to examine for treatable symptom presentations such as inattention, a neurologist for seizure assessment and brain imaging to exclude anatomical abnormalities, and a clinical geneticist to identify a known genetic syndrome causing autism, genetic counseling issues, and appropriate genetic testing for family members (now or
Evidence to practice: treatment of anxiety in individuals with autism spectrum disorders
Russell Lang,Richard Mahoney,Farah El Zein,et al
Neuropsychiatric Disease and Treatment , 2011,
Abstract: Russell Lang, Richard Mahoney, Farah El Zein, Elizabeth Delaune, Megan AmidonTexas State University-San Marcos, TX, USADate of preparation: 23rd December 2010 Conflict of interest: None declaredClinical question: What treatment improves social interactions and reduces reports of anxiety symptoms in individuals with autism spectrum disorders (ASD) and a co-occurring anxiety disorder? Results: Systematic reviews and randomized clinical trials suggest that cognitive behavior therapy in tandem with direct instruction of social skills using applied behavior analysis intervention components may be effective for treating anxiety in individuals with high functioning ASD. For individuals with ASD, an anxiety disorder, and an intellectual disability, systematic desensitization may be effective.Implementation: Intervention should emphasize teaching social skills. Reinforcers (ie, rewards based upon the client's interests) should be used to encourage participation in therapy. Treatment should incorporate visual aides and family involvement. Intervention components involving abstract concepts, visualization, and discussions of emotions are less useful given difficulties in abstract reasoning and communication inherent to ASD.Keywords: autism, ASD, Asperger's, anxiety, cognitive behavior therapy, applied behavior analysis
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.
Autism Spectrum Disorders in Iran  [cached]
Iranian Journal of Child Neurology , 2011,
Abstract: objectiveAutistic disorder, Asperger syndrome, and PDD-Not Otherwise Specified are subsets of autism spectrum disorders (ASDs), which are characterized by impairments in social communication and stereotyped behavior. This articlereviews the prevalence, etiology, diagnosis, and treatment of ASDs in Iran.Materials & MethodsWe searched PubMed, ISI Web of Science, and 4 Iranian databases (IranPsych,IranMedex, Irandoc and Scientific Information Database (SID) to find Iranian studies on ASDs. The results of 39 investigations, comprising original, reviewand editorial articles; proceedings; and available dissertations were categorized by prevalence, etiology, diagnosis, and treatment.ConclusionSeveral preliminary investigations have been done to evaluate the prevalence of ASDs, and risk factors and effective variables have been studied with regard to etiology. The diagnostic evaluation of ASDs, especially based on EEG, and several pharmacological and behavioral interventions for ASD have been implemented in Iran. Mental health, stress levels, and personality characteristics were examined in the parents of children with ASDs, which were focused on mothers.
Intranasal oxytocin versus placebo in the treatment of adults with autism spectrum disorders: a randomized controlled trial  [cached]
Anagnostou Evdokia,Soorya Latha,Chaplin William,Bartz Jennifer
Molecular Autism , 2012, DOI: 10.1186/2040-2392-3-16
Abstract: Background There are no effective medications for the treatment of social cognition/function deficits in autism spectrum disorder (ASD), and adult intervention literature in this area is sparse. Emerging data from animal models and genetic association studies as well as early, single-dose intervention studies suggest that the oxytocin system may be a potential therapeutic target for social cognition/function deficits in ASD. The primary aim of this study was to examine the safety/therapeutic effects of intranasal oxytocin versus placebo in adults with ASD, with respect to the two core symptom domains of social cognition/functioning and repetitive behaviors. Methods This was a pilot, randomized, double-blind, placebo-controlled, parallel design trial of intranasal oxytocin versus placebo in 19 adults with ASD (16 males; 33.20 ± 13.29 years). Subjects were randomized to 24 IU intranasal oxytocin or placebo in the morning and afternoon for 6 weeks. Measures of social function/cognition (the Diagnostic Analysis of Nonverbal Accuracy) and repetitive behaviors (Repetitive Behavior Scale Revised) were administered. Secondary measures included the Social Responsiveness Scale, Reading-the-Mind-in-the-Eyes Test and the Yale Brown Obsessive Compulsive Scale – compulsion subscale and quality of life (World Health Organization Quality of Life Questionnaire – emotional/social subscales). Full-information maximum-likelihood parameter estimates were obtained and tested using mixed-effects regression analyses. Results Although no significant changes were detected in the primary outcome measures after correcting for baseline differences, results suggested improvements after 6 weeks in measures of social cognition (Reading-the-Mind-in-the-Eyes Test, p = 0.002, d = 1.2), and quality of life (World Health Organization Quality of Life Questionnaire – emotion, p = 0.031, d = 0.84), both secondary measures. Oxytocin was well tolerated and no serious adverse effects were reported. Conclusions This pilot study suggests that there is therapeutic potential to daily administration of intranasal oxytocin in adults with ASD and that larger and longer studies are warranted. Trial registration NCT00490802
Autism spectrum disorders  [cached]
Faras Hadeel,Al Ateeqi Nahed,Tidmarsh Lee
Annals of Saudi Medicine , 2010,
Abstract: Pervasive developmental disorders are a group of neurodevelopmental disorders characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. The term autism spectrum disorders (ASD) has been used to describe their variable presentation. Although the cause of these disorders is not yet known, studies strongly suggest a genetic basis with a complex mode of inheritance. More research is needed to explore environmental factors that could be contributing to the cause of these disorders. The occurrence of ASD has been increasing worldwide, with the most recent prevalence studies indicating that they are present in 6 per 1000 children. The objectives of this article are to provide physicians with relevant information needed to identify and refer children presenting with symptoms suggestive of ASDs to specialized centers early, and to make them feel comfortable in dealing with public concerns regarding controversial issues about the etiology and management of these disorders.
Pondering acupuncture treatment on anxiety disorders  [cached]
SU Zhan-Qing
Zhong Xi Yi Jie He Xue Bao , 2004,
Abstract: Review of papers about acupuncture treatment on anxiety disorders since 1996 showed that many papers were mainly concerned with the treatment of anxiety disorders and obsession with electroacupuncture therapy. Baihui, Yintang, Shenmen, Dazhui, Taiyang,etc, were the most commonly involved acupoints. This paper argues that more emphasis should be transferred from "heart" to "brain", and correspondingly, should be put on acupoints at the head, the DU meridian and acupoints nearby in terms of the position of treatment, on scalp acupuncture and acupoint injection in terms of the methods of treatment, on the combination of diagnosis by western medicine and syndrome differentiation of traditional Chinese medicine in terms of treating strategy. As to the research method, evidence-based medicine, and multicenter, large sample randomized controlled trial study on anxiety disorders should be made.
Neuroinflammation in autism spectrum disorders  [cached]
El-Ansary Afaf,Al-Ayadhi Laila
Journal of Neuroinflammation , 2012, DOI: 10.1186/1742-2094-9-265
Abstract: Objectives The neurobiological basis for autism remains poorly understood. However, research suggests that environmentalfactors and neuroinflammation, as well as genetic factors, are contributors. This study aims to test the role that might be played by heat shock protein (HSP)70, transforming growth factor (TGF)-β2, Caspase 7 and interferon-γ (IFN-γ)in the pathophysiology of autism. Materials and methods HSP70, TGF-β2, Caspase 7 and INF-γ as biochemical parameters related to inflammation were determined in plasma of 20 Saudi autistic male patients and compared to 19 age- and gender-matched control samples. Results The obtained data recorded that Saudi autistic patients have remarkably higher plasma HSP70, TGF-β2, Caspase 7 and INF-γ compared to age and gender-matched controls. INF-γ recorded the highest (67.8%) while TGF-β recorded the lowest increase (49.04%). Receiver Operating Characteristics (ROC) analysis together with predictiveness diagrams proved that the measured parameters recorded satisfactory levels of specificity and sensitivity and all could be used as predictive biomarkers. Conclusion Alteration of the selected parameters confirm the role of neuroinflammation and apoptosis mechanisms in the etiology of autism together with the possibility of the use of HSP70, TGF-β2, Caspase 7 and INF-γ as predictive biomarkers that could be used to predict safety, efficacy of a specific suggested therapy or natural supplements, thereby providing guidance in selecting it for patients or tailoring its dose.
Visuomotor resonance in autism spectrum disorders  [PDF]
Cristina Becchio,Umberto Castiello
Frontiers in Integrative Neuroscience , 2012, DOI: 10.3389/fnint.2012.00110
Abstract: When we observe the actions performed by others, our motor system “resonates” along with that of the observed agent. Is a similar visuomotor resonant response observed in autism spectrum disorders (ASD)? Studies investigating action observation in ASD have yielded inconsistent findings. In this perspective article we examine behavioral and neuroscientific evidence in favor of visuomotor resonance in ASD, and consider the possible role of action-perception coupling in social cognition. We distinguish between different aspects of visuomotor resonance and conclude that while some aspects may be preserved in ASD, abnormalities exist in the way individuals with ASD convert visual information from observed actions into a program for motor execution. Such abnormalities, we surmise, may contribute to but also depend on the difficulties that individuals with ASD encounter during social interaction.
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