High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders

Recently, autism-related research has focused on the identification of various genes and disturbed pathways causing the genetically heterogeneous group of autism spectrum disorders (ASD). The list of autism-related genes has significantly increased due to better awareness with advances in genetic technology and expanding searchable genomic databases. We compiled a master list of known and clinically relevant autism spectrum disorder genes identified with supporting evidence from peer-reviewed medical literature sources by searching key words related to autism and genetics and from authoritative autism-related public access websites, such as the Simons Foundation Autism Research Institute autism genomic database dedicated to gene discovery and characterization. Our list consists of 792 genes arranged in alphabetical order in tabular form with gene symbols placed on high-resolution human chromosome ideograms, thereby enabling clinical and laboratory geneticists and genetic counsellors to access convenient visual images of the location and distribution of ASD genes. Meaningful correlations of the observed phenotype in patients with suspected/confirmed ASD gene(s) at the chromosome region or breakpoint band site can be made to inform diagnosis and gene-based personalized care and provide genetic counselling for families.     

A participatory product design process with children with autism spectrum disorder

This study aims to explore the ways of involving children with autism in participatory product design processes. Due to the impaired skills of children with autism, a key aspect of the process is to gain an understanding of the nature of the disorder and how these children interact with their social and material surroundings as well as their daily life problems. Considering this, a case study was conducted with children with autism, their parents and teachers, and also industrial design students in a public special education centre in ?zmir, Turkey. The design task was to reconsider the conventional trampoline design with respect to the needs of the sample group and the special education centre as well as the benefits it provides. The task was based on the patterns of behaviours, actions and movement. Observations, interviews and questionnaires were carried out, as well as collaborative meetings and discussion meetings. Through the case study, the findings provided insights into conducting a participatory process with children with autism, the roles of the participants, and the interaction and communication among them. Furthermore, participants’ attitude towards participatory design, the potential benefits of the design process, and innovations to benefit children with autism were explained.     

Pharmacogenetics Informed Decision Making in Adolescent Psychiatric Treatment: A Clinical Case Report

Advances made in genetic testing and tools applied to pharmacogenetics are increasingly being used to inform clinicians in fields such as oncology, hematology, diabetes (endocrinology), cardiology and expanding into psychiatry by examining the influences of genetics on drug efficacy and metabolism. We present a clinical case example of an adolescent male with anxiety, attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder who did not tolerate numerous medications and dosages over several years in attempts to manage his symptoms. Pharmacogenetics testing was performed and DNA results on this individual elucidated the potential pitfalls in medication use because of specific pharmacodynamic and pharmacokinetic differences specifically involving polymorphisms of genes in the cytochrome p450 enzyme system. Future studies and reports are needed to further illustrate and determine the type of individualized medicine approach required to treat individuals based on their specific gene patterns. Growing evidence supports this biological approach for standard of care in psychiatry.     

儿童同伴交往视角下的住区户外环境营造模式探索

社会生活方式转变后,儿童孤独症 日趋严峻,正严重危害我国儿童健康成长。 研究表明,良好的儿童同伴关系有助于预防 孤独症发生,且同伴交往对于塑造同伴关 系极其重要。通过空间环境提升促进儿童同 伴交往活动的发生是城乡规划学科遏制精 神疾病的重要举措之一。本文首先分析了影 响同伴关系的三类同伴交往行为,包括亲社 会、攻击和退缩行为;其次提出运动、感官 和游戏三类情景,通过诱发、促进和阻碍能 有效干预三类交往行为;以此为基础,总结 出空间通过情景场地、体验和意境营造住区 户外运动、感官和游戏交往情景要点;最后, 从提升儿童同伴交往的视角,总结出应对当 前住区普遍存在的儿童交往空间问题的三种 营造模式,为后续研究奠定理论基础。     

Trajectories of emotional well-being in mothers of adolescents and adults with autism.

Raising an adolescent or adult child with a developmental disability confers exceptional caregiving challenges on parents. We examined trajectories of 2 indicators of emotional well-being (depressive symptoms and anxiety) in a sample of primarily Caucasian mothers (N = 379; M age = 51.22 years at Time 1) of adolescent and adult children with an autism spectrum disorder (ASD; M age = 21.91 years at Time 1, 73.2% male). We also investigated within-person associations of child context time-varying covariates (autism symptoms, behavior problems, residential status) and maternal context time-varying covariates (social support network size and stressful family events) with the trajectories of emotional well-being. Data were collected on 5 occasions across a 10-year period. Average patterns of stable (depressive symptoms) and improved (anxiety) emotional well-being were evident, and well-being trajectories were sensitive to fluctuations in both child and maternal context variables. On occasions when behavior problems were higher, depressive symptoms and anxiety were higher. On occasions after which the grown child moved out of the family home, anxiety was lower. Anxiety was higher on occasions when social support networks were smaller and when more stressful life events were experienced. These results have implications for midlife and aging families of children with an ASD and those who provide services to these families. (PsycINFO Database Record (c) 2011 APA, all rights reserved)     

A communication-based intervention for nonverbal children with autism: What changes? Who benefits?

Objective: This article examines the form and function of spontaneous communication and outcome predictors in nonverbal children with autism following classroom-based intervention (Picture Exchange Communication System [PECS] training). Method: 84 children from 15 schools participated in a randomized controlled trial (RCT) of PECS (P. Howlin, R. K. Gordon, G. Pasco, A. Wade, & T. Charman, 2007). They were aged 4–10 years (73 boys). Primary outcome measure was naturalistic observation of communication in the classroom. Multilevel Poisson regression was used to test for intervention effects and outcome predictors. Results: Spontaneous communication using picture cards, speech, or both increased significantly following training (rate ratio [RR] =1.90, 95% CI [1.46, 2.48], p     

Attitudes toward adoption of evidence-based practices: A comparison of autism early intervention providers and children’s mental health providers.

Across the country, states are reporting increases in the number of children with autistic spectrum disorders (ASDs) served each year in the early intervention system. Research examining factors impacting the successful dissemination and implementation of evidence-based practices (EBPs) into service systems for these children is limited. Preliminary information indicates that adoption of EBPs is variable. Provider attitudes toward the adoption of EBPs may be one factor that limits or facilitates implementation of efficacious treatments and these attitudes vary by organizational context and provider individual differences. The current study examines cross-context differences in provider attitudes toward EBPs by comparing the attitudes of 71 education-based early intervention providers working with children with ASD to the attitudes of 238 mental health providers in the public mental health system. This provides the first examination of ASD early intervention provider attitudes toward EBP. Results indicated that early intervention providers reported significantly more favorable attitudes toward adopting EBPs than did mental health providers. Early intervention providers with extended experience in the field perceived less divergence between their current practice and EBPs. Implications are discussed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Associations of postural knowledge and basic motor skill with dyspraxia in autism: Implication for abnormalities in distributed connectivity and motor learning.

Children with autism often have difficulty performing skilled movements. Praxis performance requires basic motor skill, knowledge of representations of the movement (mediated by parietal regions), and transcoding of these representations into movement plans (mediated by premotor circuits). The goals of this study were (a) to determine whether dyspraxia in autism is associated with impaired representational (“postural”) knowledge and (b) to examine the contributions of postural knowledge and basic motor skill to dyspraxia in autism. Thirty-seven children with autism spectrum disorder (ASD) and 50 typically developing (TD) children, ages 8–13, completed (a) an examination of basic motor skills, (b) a postural knowledge test assessing praxis discrimination, and (c) a praxis examination. Children with ASD showed worse basic motor skill and postural knowledge than did controls. The ASD group continued to show significantly poorer praxis than did controls after accounting for age, IQ, basic motor skill, and postural knowledge. Dyspraxia in autism appears to be associated with impaired formation of spatial representations, as well as transcoding and execution. Distributed abnormality across parietal, premotor, and motor circuitry, as well as anomalous connectivity, may be implicated. (PsycINFO Database Record (c) 2010 APA, all rights reserved)