Role of parental occupation in autism spectrum disorder diagnosis and severity

Some have suggested that parents of children with autism spectrum disorder (ASD) may present with less recognizable autistic-like phenotypic characteristics, leading them to highly systemizing occupations. Using secondary analysis of data from two previous studies of children with ASD, we tested associations between parental occupations and ASD diagnosis and the association of parental occupational characteristics on ASD severity. We found that fathers in healthcare (P < 0.01) and finance (P = 0.03) were more likely to have children with ASD. Additionally, joint effects of parental technical occupations were associated with communication (P < 0.01) and social impairment (P = 0.04). These results support that a “broader phenotype” and possible assortative mating in adults with autistic-like characteristics might contribute to intergenerational transmission and having offspring with greater ASD severity.     

Addressing parental concerns at the initial diagnosis of an autism spectrum disorder

The core deficits in autism spectrum disorders (ASDs) include socialization, communication, and the presence of repetitive, stereotypical interests and behaviors. In addition to these core problems the autism spectrum includes a variety of possible developmental delays, intellectual disabilities, medical issues, and co-morbid psychiatric disorders. As each child may present with a unique set of difficulties, it may be difficult for clinicians to adequately address each families concerns at the time of diagnosis. The object of this study was to assess what problems were of foremost important to parents at the time of their child's ASD diagnosis and to determine how well they felt those concerns were addressed during the diagnostic process. Four-hundred and thirty-eight parents of children with an ASD completed web-based surveys collecting demographic information and assessing areas of concern and how well those concerns were addressed at diagnosis. At the time of diagnosis, core deficits were of most important to respondents but were considered well addressed only about half of the time. Also important was discussing information about treatments options with the diagnosing clinician. Clinicians could better address the core deficits in autism and their treatment options at the time they make an ASD diagnosis.     

孤独谱系障碍诊治新进展

孤独谱系障碍(Autism Spectrum Disorders , ASD)是一种严重的神经发育障碍性疾病,起病于婴幼儿时期 ,主要表现为语言发育障碍、社交技能缺陷、重复刻板的动作以及狭隘的兴趣等.ASD的病因复杂 ,发病机制不明 ,临床表现多样[1] ,且致残性极高.2015年6月4日国家多部委联合发布的《全国精神卫生工作规划(2015—2020年)》将儿童自闭症防治列为重点工作.当前面临的首要挑战 ,是早期检测识别、有效干预治疗[2] .美国精神障碍诊断与统计手册(The Diagnostic and Statistical Manual of Mental Disorders ,DSM )关于自闭症的诊断标准经过了半个多世纪的演化,尤其是近年来在大量相关理论和临床研究的进展下日臻完善[3].对 ASD患者要采用综合性的治疗方法 ,最重要的是教育训练和心理行为治疗[4] ,目的是矫正异常行为 ,消除睡眠障碍 ,控制冲动、自伤等症状.随着现代神经免疫、分子生物学和神经电生理等学科的发展 ,为ASD的治疗研发带来了更多的机遇和挑战.现就近年国内外关于ASD的研究 ,从诊断和生物医学干预治疗等方面进行综述.     

Emerging perspectives on adolescents and young adults with high-functioning autism spectrum disorders, violence, and criminal law

As the prevalence of autism spectrum disorders (ASDs) has increased, attention has shifted toward consideration of ASDs in adolescence and adulthood, as well as public health repercussions for this population. Since the social and emotional deficits within ASDs may be salient during incidents of unintended criminal or violent behavior, one area of focus is involvement of adolescents and young adults with ASD in the criminal justice system. Without a thorough understanding of how and why individuals with ASDs may exhibit criminal behavior, judicial and legislative state systems have begun to develop policies lacking a substantial evidence base. In this article, we attempt to synthesize the literature on one type of ASD (high functioning) and criminal behavior. Three specific deficits characteristic of individuals with ASDs (theory of mind, emotion regulation, and moral reasoning) are examined as potential confluent forces leading to criminal behavior among individuals with ASDs. Legal and policy recommendations are presented.     

Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population

Background   An emerging literature on behavioural phenotypes has highlighted apparent associations between autism spectrum disorders (ASDs) or ASD-related phenomenology and a number of different genetically determined syndromes.
Method   A systematic review of the current literature regarding the association with ASD and ASD characteristics was conducted in the following syndrome groups: Fragile X, Rett, Tuberous Sclerosis Complex, Down, Angelman, CHARGE and Phenylketonuria. Specific consideration was given to the role of intellectual disability in assessing the association between ASD and these syndrome groups.
Results   The review highlights that while formal diagnostic assessments may indicate an association between ASD and specific syndrome groups, detailed investigation has revealed subtle but qualitative differences in the presentation of ASD-like phenomenology in particular syndrome groups. The degree of ID of the individual clearly has a role to play with regard to the development and presentation of ASD-like characteristics, and caution should be taken when assessing ASD symptomatology in genetically determined syndromes associated with severe ID. However, degree of ID cannot solely account for the heightened prevalence of ASD characteristics in some specific syndrome groups.
Conclusions   There is a need for caution in interpreting the significance of superficial similarities between ASD and the behavioural phenotypes of certain genetically determined syndromes. However, recognition of ASD-like characteristics (even where a true diagnosis of ASD may not be relevant) in individuals with genetic syndromes is crucial in ensuring that individuals receive appropriate behavioural management and educational placement. Further research in this field requires fine-grained investigation of behavioural phenomenology within individual syndrome groups.     

Pharmacotherapy of autism spectrum disorders

Although no pharmacological or behavioral therapy has currently proven effective for treating all core symptoms of autism, many dysfunctional behaviors may be treated pharmacologically. Drug treatments should always be part of a comprehensive management plan that includes behavioral and educational interventions, and should be focused on specific targets. Several classes of psychotropic medications have been used to decrease the wide range of “maladaptive” or “interfering” behaviors and associated medical problems that can interfere with relationships and physical health and hinder the implementation of various non-pharmacological interventions. Atypical neuroleptics have been shown to be useful in the treatment of behavioral symptoms in autism. Attention deficit and hyperactivity disorder medications may be effective for counteracting the additional features of hyperactivity and short attention span. Antiepileptic drugs and selective serotonin reuptake inhibitors have shown promising results, but there are no specific indications for them as of yet. With respect to potential drug targets, some clinical features are caused by a dysfunction in neurochemical signaling systems, and thus may improve with selective pharmacological interventions acting on specific abnormal neurobiological pathways. Recent animal studies can be useful models for understanding the common pathogenic pathways leading to autism spectrum disorders (ASDs), and have the potential to offer new biologically focused treatment options.     

Genetics of autism spectrum disorders

Autism spectrum disorders (ASDs) are a clinically complex group of childhood disorders that have firm evidence of an underlying genetic etiology. Many techniques have been used to characterize the genetic bases of ASDs. Linkage studies have identified several replicated susceptibility loci, including 2q24–2q31, 7q, and 17q11–17q21. Association studies and mutation analysis of candidate genes have implicated the synaptic genes NRXN1, NLGN3, NLGN4, SHANK3, and CNTNAP2 in ASDs. Traditional cytogenetic approaches highlight the high frequency of large chromosomal abnormalities (3%–7% of patients), including the most frequently observed maternal 15q11–13 duplications (1%–3% of patients). Newly developed techniques include high-resolution DNA microarray technologies, which have discovered formerly undetectable submicroscopic copy number variants, and genomewide association studies, which allow simultaneous detection of multiple genes associated with ASDs. Although great progress has been made in autism genetics, the molecular bases of most ASDs remains enigmatic.     

Combining information from multiple sources in the diagnosis of autism spectrum disorders

BACKGROUND: Standard case criteria are proposed for combined use of the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule to diagnose autism and to define the broader category of autism spectrum disorders. METHOD: Single and combined Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule algorithms were compared to best estimate diagnoses in four samples: U.S. (n = 960) and Canadian (n = 232) participants 3 years and older, U.S. participants younger than 36 months (n = 270), and U.S. participants older than 36 months with profound mental retardation (n = 67). RESULTS: Sensitivities and specificities of 80% and higher were obtained when strict criteria for an autism diagnosis using both instruments were applied in the U.S. samples, and 75% or greater in the Canadian sample. Single-instrument criteria resulted in significant loss of specificity. Specificity was poor in the sample with profound mental retardation. Lower sensitivity and specificity were also obtained when proposed criteria for broader spectrum disorders were applied. CONCLUSIONS: The Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule make independent, additive contributions to the judgment of clinicians that result in a more consistent and rigorous application of diagnostic criteria.     

Characteristics associated with parental estimates of sleep duration in children with autism spectrum disorders

BackgroundSleep problems are common in individuals with ASD. This study examined the relationships between bedtime consistency, cognitive functioning, comorbid diagnoses, intervention, demographics and sleep duration in children with ASD.MethodCross-sectional data from 1683 children with ASD in the 2016 and 2017 National Survey of Children's Health were analyzed. The sample was 80 % male, 46 % non-Hispanic white, and mean age was 10.5 (SD 4.1) years. All data were parent report. Multiple linear regression was performed.ResultsASD severity was associated with shorter sleep duration, and bedtime consistency was associated with longer sleep duration. Age moderated the effects of both bedtime consistency and ADD/ADHD on sleep duration. Both the positive effect of bedtime consistency and the negative effect of ADD/ADHD on sleep duration became less pronounced with age.ConclusionAlthough the challenges related to sleep and behavior may differ by age of the child, bedtime consistency could be a good target to improve sleep duration for all children with ASD. Future studies, especially longitudinal studies, on sleep habits and sleep hygiene, in conjunction with other measures of sleep patterns (e.g., night wakings) and correlates of sleep problems, may provide further evidence for the importance of good sleep practices and guide sleep treatment in children with ASD.     

Age of autism spectrum disorder diagnosis is associated with child's variables and parental experience

Early diagnosis of autism spectrum disorder (ASD) is highly important as it enables an early start to intervention. The current study examined familial (parental ages; education; having an older sibling) and child (gender; reported and observed autism symptoms severity; adaptive skills) related variables that might predict the age of ASD diagnosis. The study included 551 participants, age range 15–72 months, diagnosed with ASD who underwent comprehensive medical and behavioral assessment using standardized tests. Of the child's examined variables, the severity of the social interaction impairment reported by the parents and having a history of developmental regression was associated with an earlier age of ASD diagnosis. In contrast, the severity of the restricted and repetitive behaviors was associated with delayed age of ASD diagnosis. Vineland Adaptive Behavior Scales scores lower or higher than the group's mean (70 points) were associated with a relatively delayed age of ASD diagnosis. Of the familial variables, only having an older sibling was associated with an earlier diagnosis. Professionals should be aware that subtle signs of ASD, developmental delay and close to normal adaptive functioning might delay age of ASD diagnosis. Educating parents on “red flags” for ASD and periodic surveillance in early childhood are important.     

Current status of differential diagnosis for children with autism spectrum disorders

Early intervention for autism spectrum disorder (ASD) has proven to be a successful strategy for remediating many difficulties experienced by these children. As a result, accurate diagnoses of children with this range of disorders has become more critical. Additionally, while current training programs are for 3-4 year olds, in efforts to start treatment at younger ages, clinicians are giving these diagnoses at younger and younger ages. A considerable amount of research activity on a technology for making differential diagnoses of ASD has been emerging in recent years. The purpose of this paper is to provide an overview of some of these developments, and to offer opinions on the current status of the area.     

Neurometabolic disorders and dysfunction in autism spectrum disorders

The cause of autism remains largely unknown because it is likely multifactorial, arising from the interaction of biologic, genetic, and environmental factors. The specific role of metabolic abnormalities also is largely unknown, but current research may provide insight into the pathophysiologic underpinnings of autism, at least in some patients. We review a number of known neurometabolic disorders identified as having an autistic phenotype. We also discuss the possible involvement of mitochondrial disorders and dysfunction as well as a theory regarding an increased vulnerability to oxidative stress, by which various environmental toxins produce metabolic alterations that impair normal cellular function. Finally, we review various strategies for metabolic work-up and treatment. Accurate diagnosis of neurometabolic disorders and a broader understanding of underlying metabolic disturbance even in the absence of known disease have important implications both for individual patients and for research into the etiology of autism.     

Neurofeedback in autism spectrum disorders

Aim  To review current studies on the effectiveness of neurofeedback as a method of treatment of the core symptoms of autism spectrum disorders (ASD). Method  Studies were selected based on searches in PubMed, Ovid MEDLINE, EMBASE, ERIC, and CINAHL using combinations of the following keywords: ‘Neurofeedback’ OR ‘EEG Biofeedback’ OR ‘Neurotherapy’ OR ‘Mu‐Rhythm’ OR ‘SMR’ AND ‘Autism’ OR ‘Autism Spectrum Disorder’ OR ‘Pervasive Developmental Disorder’. Results  The existing evidence does not support the use of neurofeedback in the treatment of ASD. Studies with outcomes in favour of neurofeedback might be showing an improvement in comorbid attention‐deficit–hyperactivity disorder symptoms rather than a true improvement in core ASD symptoms. Interpretation  Limitations of this review are those inherent in the studies available, including small sample size, short duration, variable diagnostic criteria, and insufficient control interventions, all causing a lack of generalizability.     

Epilepsy in autism spectrum disorders

Epilepsy is quite common in autism spectrum disorders, and it is increasingly recognized as an additional clinical problem that must be dealt with. The rate of comorbidity varies, depending upon the age and type of disorder, and currently the conservative estimate of comorbidity cases is 20–25% of the whole spectrum. Major risk factors for seizure occurrence are mental retardation and additional neurological disorders, as well as some specific associated medical conditions. Autism with regression has been reported in one-third of children with previously normal or nearly normal development. In an unknown proportion of these subjects, epileptic disorders are concomitant, leading to so-called autistic epileptiform regression. Furthermore, epileptiform abnormalities without seizures are frequent in this population and their role in the development of the nuclear disturbances of autism is controversial. The therapeutic approaches to epilepsy in autism are conventional treatments, yet when seizures are not evident, there is still controversy. Anticonvulsant medications could also potentially interfere with mood and behavioral disturbances frequently observed in ASD. The current understanding of the association between epilepsy and autism is still limited, but from a clinical point of view this association should not be overlooked, and it should be routinely investigated.     

Brief report: Psychopharmacology of autism spectrum disorders

The purpose of this paper is to review briefly recent findings on the efficacy of psychopharmacological interventions in autism spectrum disorder, point out gaps in our current knowledge of the effects of specific drug classes, and suggest both general and specific research directions for the future. For a more comprehensive review of drug studies in autism, readers are directed toward McDougle, Price, and Volkmar (1994).     

The genetics of autism spectrum disorders

Epidemiological twin studies demonstrate that autism spectrum disorders (ASDs) represent genetic disorders. Subsequent analyses indicate that the causes of ASDs include less common single-gene mutations and chromosomal abnormalities, as well as ASDs caused by multiple interacting genes of weak effect. Genome-wide linkage analysis has identified several susceptibility loci for the ASDs, and positional and functional candidate genes have been identified that appear to represent susceptibility genes for the ASDs. Analysis of additional larger samples and the use of genome-wide association and high-throughput variant detection will lead to the identification of further genes for ASDs.     

The neurobiology of autism spectrum disorders

Data is progressively and robustly accumulating regarding the biological basis of autism. Autism spectrum disorders (ASD) are currently considered a group of neurodevelopmental disorders with onset very early in life and a complex, heterogeneous, multifactorial aetiology. A comprehensive search of the last five years of the Medline database was conducted in order to summarize recent evidence on the neurobiological bases of autism. The main findings on genetic influence, neuropathology, neurostructure and brain networks are summarized. In addition, findings from peripheral samples of subjects with autism and animal models, which show immune, oxidative, mitochondrial dysregulations, are reported. Then, other biomarkers from very different systems associated with autism are reported. Finally, an attempt is made to try and integrate the available evidence, which points to a oligogenetic, multifactorial aetiology that converges in an aberrant micro-organization of the cortex, with abnormal functioning of the synapses and abnormalities in very general physiological pathways (such as inflammatory, immune and redox systems).