Autism Syndrome Research Articles

Common neurological co-morbidities in autism spectrum disorders.

Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental disorders associated with various co-morbidities. Neurological co-morbidities include motor impairments, epilepsy, and sleep dysfunction. These impairments have been receiving more attention recently, perhaps because of their significant impact on the behavior and cognitive function of children with ASDs. Here, we review the epidemiology, etiology, and clinical approach to these neurological co-morbidities and highlight future research directions. Motor impairments include stereotypies, motor delays, and deficits, such as dyspraxia, incoordination, and gait problems. Sleep dysfunction typically presents as difficulty with sleep onset and prolonged awakenings during the night. Recent data suggest that abnormalities in melatonin may affect sleep and may be a potential treatment target. There is no classic epilepsy syndrome associated with ASDs. Intellectual disability, syndromic autism, and female sex are specific risk factors. Recent research has focused on identifying the overlapping pathways between these neurological co-morbidities and the core deficits in ASDs, which may have direct and powerful implications for treatment and prognosis. Motor impairment, epilepsy, and sleep dysfunction are common neurological co-morbidities in ASDs. Clinicians should be aware that recognition and treatment of these issues may improve the function and outcome of children with ASDs.

Predictive models for subtypes of autism spectrum disorder based on single-nucleotide polymorphisms and magnetic resonance imaging

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, of which Asperger syndrome and high-functioning autism are subtypes. Our goal is: 1) to determine whether a diagnostic model based on single-nucleotide polymorphisms (SNPs), brain regional thickness measurements, or brain regional volume measurements can distinguish Asperger syndrome from high-functioning autism; and 2) to compare the SNP, thickness, and volume-based diagnostic models. Our study included 18 children with ASD: 13 subjects with high-functioning autism and 5 subjects with Asperger syndrome. For each child, we obtained 25 SNPs for 8 ASD-related genes; we also computed regional cortical thicknesses and volumes for 66 brain structures, based on structural magnetic resonance (MR) examination. To generate diagnostic models, we employed five machine-learning techniques: decision stump, alternating decision trees, multi-class alternating decision trees, logistic model trees, and support vector machines. For SNP-based classification, three decision-tree-based models performed better than the other two machine-learning models. The performance metrics for three decision-tree-based models were similar: decision stump was modestly better than the other two methods, with accuracy = 90%, sensitivity = 0.95 and specificity = 0.75. All thickness and volume-based diagnostic models performed poorly. The SNP-based diagnostic models were superior to those based on thickness and volume. For SNP-based classification, rs878960 in GABRB3 (gamma-aminobutyric acid A receptor, beta 3) was selected by all tree-based models. Our analysis demonstrated that SNP-based classification was more accurate than morphometry-based classification in ASD subtype classification. Also, we found that one SNP--rs878960 in GABRB3--distinguishes Asperger syndrome from high-functioning autism.

Posterior Fossa Malformation Associated With Cerebral Anomalies

Many posterior fossa malformations are associated with other malformations particularly supratentorial ones, which tend to affect the prognosis of these patients. The role of the cerebellum in higher learning is just beginning to be understood, but it is obvious that cerebellar abnormalities may result in higher-cognition defects. Studies have demonstrated cerebellar abnormalities in patients with developmental encephalopathies, such as autism, mental retardation, and Rett syndrome. Disorders that affect cell life cycles and result in abnormal cell proliferation and abnormal cell migration disorders (hemimegalencephaly, dystroglicanopathy, lissencephaly, and gray matter heterotopia) can also be accompanied by posterior fossa malformations. In this article, we discuss hindbrain-midbrain malformations associated with developmental encephalopathies and with supratentorial brain abnormalities that result from abnormal cell proliferation and cell migration.

Mutations causing syndromic autism define an axis of synaptic pathophysiology

SummaryTuberous sclerosis complex and fragile X syndrome are genetic diseases characterized by intellectual disability and autism. Because both syndromes are caused by mutations in genes that regulate protein synthesis in neurons, it has been hypothesized that excessive protein synthesis is one core pathophysiological mechanism of intellectual disability and autism. Using electrophysiological and biochemical assays of neuronal protein synthesis in the hippocampus of Tsc2+/− and Fmr1−/y mice, we show that synaptic dysfunction caused by these mutations actually falls at opposite ends of a physiological spectrum. Synaptic, biochemical and cognitive defects in these mutants are corrected by treatments that modulate metabotropic glutamate receptor 5 in opposite directions, and deficits in the mutants disappear when the mice are bred to carry both mutations. Thus, normal synaptic plasticity and cognition occur within an optimal range of metabotropic glutamate receptor-mediated protein synthesis, and deviations in either direction can lead to shared behavioral impairments.

S. Bölte and J. Hallmayer (Eds.): Autism Spectrum Conditions: FAQs on Autism, Asperger Syndrome, and Atypical Autism Answered by International Experts

S. Bölte and J. Hallmayer (Eds.): Autism Spectrum Conditions: FAQs on Autism, Asperger Syndrome, and Atypical Autism Answered by International Experts

Autism Spectrum Conditions: FAQs on Autism, Asperger Syndrome and Atypical Autism Answered by International Experts

Acta PaediatricaVolume 101, Issue 1 p. 99-100 BOOK REVIEWS Autism Spectrum Conditions: FAQs on Autism, Asperger Syndrome and Atypical Autism Answered by International Experts Virginia Wong, Virginia Wong vcnwong@hku.hkSearch for more papers by this author Virginia Wong, Virginia Wong vcnwong@hku.hkSearch for more papers by this author First published: 15 September 2011 https://doi.org/10.1111/j.1651-2227.2011.02470.xRead the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Volume101, Issue1January 2012Pages 99-100 RelatedInformation

Remarques sur l’autisme de la schizophrénie

After a brief overview of the psychiatric literature dedicated to the autism, as introduced by Bleuler in the clinic of schizophrenia, this article focuses on the status of autistic syndrome in the schizophrenic symptomatology. In a first part based on the study of the negative symptomatology, the author underlines the paradoxical situation of affects in such clinical pictures, and highlights how autistic withdrawal cannot be understood as a “loss of affective contact”. The second part, focused on the positive symptomatology, shows the particularities of the “autistic thought” and settles what the relevant study owes to the dream-paradigm. Finally, the author formulates the contradiction between Bleulerian and Freudian's approaches: autism is not a withdrawal on the “intimate world”, but merely an effect of its exclusion.

Coping Strategies Used by Young People with Autism Spectrum Disorders

Little is understood about how adolescents with high-functioning autism spectrum disorders attempt to cope with problems. Six males between 13- and 17-years-old with Asperger syndrome or high-functioning autism completed an adapted Adolescent Coping Scale, the Social Skills Rating System, the Personal Wellbeing Index and a semistructured interview about the ways they coped. Parental reports on an adapted Adolescent Coping Scale and the Social Skills Rating System were also collected for four participants. Social skill and subjective wellbeing measures demonstrated a sample characterised by considerable variability between normative and less than normative ranges. Adolescents reported using a range of coping strategies, however they described their coping efforts as often ineffective. Parents also perceived that their sons used several nonproductive coping strategies more frequently. The results support that coping is a relevant area for future research attention with these young people and that the assessment of coping would be useful for targeted intervention practices.

Book Review: A Best Practice Guide to Assessment and Intervention for Autism and Asperger Syndrome in Schools

Book Review: A Best Practice Guide to Assessment and Intervention for Autism and Asperger Syndrome in Schools

Autism Spectrum Conditions: FAQs on Autism, Asperger Syndrome, and Atypical Autism Answered by International Experts

Autism Spectrum Conditions: FAQs on Autism, Asperger Syndrome, and Atypical Autism Answered by International Experts

Autistic Ethos at Work: Writing on the Spectrum in Contexts of Professional and Technical Communication

I explore the rise of international technology companies that recruit people with autism and Asperger's Syndrome, focusing specifically on the type of professional ethos that these companies cultivate for their employees. Using theories of ethos and communication from the field of technical communication, I argue that these companies often predetermine a limited sense of professional ethos for employees and reinforce stereotypes about people with autism. More broadly, I examine how this limitation is indicative of the ableism of traditional formulations of ethos in the rhetorical tradition. I then turn to potential revisions that technical communicators with autism can offer. Specifically, I examine two technical and professional writers in particular—Temple Grandin and Dawn Prince Hughes—showing how each invents a professional ethos that resists stereotypes about autism and what it means to be an "ideal" professional communicator.

Troubles anxieux dans les troubles envahissants du développement sans retard mental : état des lieux chez les enfants et les adolescents au travers d’une revue de la littérature

Anxiety is highly prevalent in Pervasive Developmental Disorder (PDD) without mental retardation but is too often misdiagnosed. The authors suggest a critical review of current data of the PDD without mental retardation in children and adolescents, in order to summarize research published in this field. After describing specific features, this article tackles the issue of prevalence of anxiety among this population, then deals with present-time assessment and treatments of comorbid anxiety. This review was based on a systematic search of the main online databases (Science Direct, PsychInfo, Medline and Pubmed) in order to compile surveys published on Asperger syndrome and high-functioning autism-related anxiety among children and adolescents. This study focuses on papers published between 1995 and 2010, using strict diagnostic criteria for anxiety and PDD, and a controlled group, with the exception of pharmacological studies because none are controlled. We found seven studies assessing the prevalence of anxiety among children and adolescents with PDD, four assessment tools and 12 treatments. Anxiety disorders were shown in 42% of children and adolescents with PDD without mental retardation. This disorder is related to age and level of cognitive functioning and is likely to affect PDD without mental retardation as children and adolescents with anxiety disorder without PDD. This review highlights a major problem: assessment of anxiety in PDD without mental retardation. Actually, only two PDD adapted instruments have been found: the Autism Co-Morbidity Interview Present and Lifetime Version (ACI-PI) and the Stress Survey Schedule (SSS) for persons with autism. Such tools being methodologically limited, the diagnosis of anxiety disorder is all the more difficult to establish. Consequently, considering suitable treatment is not always proposed. Recent surveys show how profitable pharmacological treatment and behavioral intervention like Cognitive-Behavior Therapy (CBT) or psychosocial treatments are. However, important methodological limitations are evoked: there is no control study assessing the efficiency of a pharmacological treatment in Asperger syndrome and high-functioning autism. Besides, the research on how profitable cognitive and behavioral treatment is, gives heterogeneous results. Finally, social skills' training does not treat anxiety disorder directly, but skills abilities that are the most important disabilities in PDD without mental retardation. Therefore, authors advocate adapting treatment in order to treat anxiety disorder. The research revealed an important need to create new assessment instruments suitable to PDD without mental retardation in order to facilitate the co-morbidity diagnosis. This survey also underlines the necessity to develop controlled research testing the efficiency of such treatments as pharmacological ones, cognitive and behavioral therapies as well as social skills training.

Biochemical evidence for the dysregulation of Alzheimer’s Amyloid Precursor Protein (APP) expression and metabolism in Fragile X Syndrome (FXS) and severe autism

Biochemical evidence for the dysregulation of Alzheimer’s Amyloid Precursor Protein (APP) expression and metabolism in Fragile X Syndrome (FXS) and severe autism

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

Autism spectrum disorders (ASDs) are a heterogeneous group of neuro-developmental disorders. While significant progress has been made in the identification of genes and copy number variants associated with syndromic autism, little is known to date about the etiology of idiopathic non-syndromic autism. Sanger sequencing of 21 known autism susceptibility genes in 339 individuals with high-functioning, idiopathic ASD revealed de novo mutations in at least one of these genes in 6 of 339 probands (1.8%). Additionally, multiple events of oligogenic heterozygosity were seen, affecting 23 of 339 probands (6.8%). Screening of a control population for novel coding variants in CACNA1C, CDKL5, HOXA1, SHANK3, TSC1, TSC2 and UBE3A by the same sequencing technology revealed that controls were carriers of oligogenic heterozygous events at significantly (P < 0.01) lower rate, suggesting oligogenic heterozygosity as a new potential mechanism in the pathogenesis of ASDs.

Caracterización de niños y adolescentes con trastornos del espectro autista en una institución de Bogotá, Colombia

ObjectiveTo determine the profile of children and adolescents diagnosed with autism spectrum disorder (ASD) in a comprehensive care centre in Bogota, Colombia. Material and methodsA descriptive-correlational study with a sample of patients who had attended the institution from 2003 to 2009. Demographic and clinical aspects were evaluated and a correlation between the diagnosis and severity being analysed in search for risk factors. ResultsA total of138 patients were studied. The average age of onset was 21 months, and diagnosis had been made at 45 months. There was a male predominance (6.15:1). The predominant diagnosis was autistic syndrome (83%), followed by pervasive developmental disorder not otherwise specified (17%). There was no pathological background in the family history, during pregnancy or during the neonatal period. Motor development during the first year was normal but acquisition of language skills was compromised. The specific signs of ASD as regards the disorder in itself, communication skills, spontaneous speech, verbal comprehension, attention, imitation, use of objects, self-care and symbolic play were significantly related to the severity of the disease. ConclusionsDiagnosis of ASD is still delayed in our population and usually after referral from someone other than a health professional. The most important problems were found in communication skills and relationships with peers. The study did not show significant associated risk factors.

The Quantitative Nature of Autistic Social Impairment

Autism, like intellectual disability, represents the severe end of a continuous distribution of developmental impairments that occur in nature, that are highly inherited, and that are orthogonally related to other parameters of development. A paradigm shift in understanding the core social abnormality of autism as a quantitative trait rather than as a categorically defined condition has key implications for diagnostic classification, the measurement of change over time, the search for underlying genetic and neurobiologic mechanisms, and public health efforts to identify and support affected children. Here, a recent body of research in genetics and epidemiology is presented to examine a dimensional reconceptualization of autistic social impairment-as manifested in clinical autistic syndromes, the broader autism phenotype, and normal variation in the general population. It illustrates how traditional categorical approaches to diagnosis may lead to misclassification of subjects (especially girls and mildly affected boys in multiple-incidence autism families), which can be particularly damaging to biological studies and proposes continued efforts to derive a standardized quantitative system by which to characterize this family of conditions.

P11.9 Severe prolonged reversible autistic syndrome in a child with ocular albinism. A longitudinal follow-up from 10 months to 8 years

P11.9 Severe prolonged reversible autistic syndrome in a child with ocular albinism. A longitudinal follow-up from 10 months to 8 years

Brain and Behavior in Fragile X Syndrome and Idiopathic Autism

Brain and Behavior in Fragile X Syndrome and Idiopathic Autism

Neuroanatomical Differences in Toddler Boys With Fragile X Syndrome and Idiopathic Autism

Neuroanatomical Differences in Toddler Boys With Fragile X Syndrome and Idiopathic Autism

自閉症・アスペルガー症候群の方言使用についての特別支援学校教員による評定

青森県津軽地方の発達障害にかかわる人々の間には、「自閉症は方言（つがる弁）をしゃべらない」との噂が存在する。本研究では、青森県および秋田県県北地区で発達障害にかかわる教員に対して、自閉症・アスペルガー症候群（ASD）、知的障害（ID）、定型発達児（TD）の方言使用についてアンケート調査を行った。青森県では、噂の既知未知と噂の肯定否定についても調査した。さらに、青森県のある特別支援学校（知的障害）の教員に、担当する児童生徒ごとに44語のつがる弁と対応する共通語、訛りについて評定を求めた。結果は、次のことを示した。1）青森秋田ともに、ASDは、IDおよびTDに比べて方言使用が少ない、2）青森では回答者の36％が噂を知っており、52％がこの噂を肯定した、3）ASDと知的障害の方言使用の差は、発音、イントネーション、および終助詞によるとされた、4）特別支援学校のASDの児童生徒は、つがる弁語彙および訛りの使用が少ないと判断された。