Classification of functioning and impairment: the development of ICF core sets for autism spectrum disorder.

Given the variability seen in Autism Spectrum Disorder (ASD), accurate quantification of functioning is vital to studying outcome and quality of life in affected individuals. The International Classification of Functioning, Disability and Health (ICF) provides a comprehensive, universally accepted framework for the description of health-related functioning. ICF Core Sets are shortlists of ICF categories that are selected to capture those aspects of functioning that are most relevant when describing a person with a specific condition.

Parents' and professionals' perceptions of family-centered care for children with autism spectrum disorder across service sectors.

Family-centered care (FCC) has been linked with improved parent and child outcomes, yet its implementation can be challenging due to family, professional, organizational and systemic factors and policies. This study aims to increase knowledge and understanding of how families with children with autism spectrum disorder (ASD) experience FCC in Alberta, Canada. 152 parents with a child with ASD completed the Measure of Processes of Care, separately for each utilized service sector, and 146 professionals working with persons with ASD completed the Measure of Processes of Care - Service Providers.

Prospective examination of visual attention during play in infants at high-risk for autism spectrum disorder: a longitudinal study from 6 to 36 months of age.

Regulation of visual attention is essential to learning about one's environment. Children with autism spectrum disorder (ASD) exhibit impairments in regulating their visual attention, but little is known about how such impairments develop over time. This prospective longitudinal study is the first to describe the development of components of visual attention, including engaging, sustaining, and disengaging attention, in infants at high-risk of developing ASD (each with an older sibling with ASD).

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet the genetic causes remain only partially understood as a result of extensive clinical and genomic heterogeneity. Whole-genome sequencing (WGS) shows promise as a tool for identifying ASD risk genes as well as unreported mutations in known loci, but an assessment of its full utility in an ASD group has not been performed. We used WGS to examine 32 families with ASD to detect de novo or rare inherited genetic variants predicted to be deleterious (loss-of-function and damaging missense mutations).

Early identification of autism spectrum disorders.

Earlier identification and diagnosis of autism spectrum disorders (ASDs) can improve opportunities for children to benefit from intervention and lessen the burden on concerned parents. This review summarizes current knowledge about early signs of autism. Convergent data from both retrospective studies and prospective studies of high-risk infants indicate that ASD symptoms emerge in the first two years of life, affecting multiple developmental domains, mapping onto symptom dimensions consistent with current diagnostic frameworks including social-communication, and repetitive interests/behaviors but also extending to motor delays and atypical regulation of attention and emotion.

Iron's role in paediatric restless legs syndrome - a review.

Paediatric restless legs syndrome (RLS) treatment is important because RLS's associated sleep disturbance causes significant developmental-behavioural morbidity and impacts family well-being. RLS is associated with brain iron insufficiency and dopaminergic dysfunction. Diagnosis requires fulfillment of diagnostic criteria, which for children are currently in evolution, and have limitations, especially in preschoolers.

White matter microstructure and atypical visual orienting in 7-month-olds at risk for autism.

OBJECTIVE The authors sought to determine whether specific patterns of oculomotor functioning and visual orienting characterize 7-month-old infants who later meet criteria for an autism spectrum disorder (ASD) and to identify the neural correlates of these behaviors. METHOD Data were collected from 97 infants, of whom 16 were high-familial-risk infants later classified as having an ASD, 40 were high-familial-risk infants who did not later meet ASD criteria (high-risk negative), and 41 were low-risk infants. All infants underwent an eye-tracking task at a mean age of 7 months and a clinical assessment at a mean age of 25 months.

Beyond autism: a baby siblings research consortium study of high-risk children at three years of age.

Objective: First-degree relatives of persons with an autism spectrum disorder (ASD) are at increased risk for ASD-related characteristics. As little is known about the early expression of these characteristics, this study characterizes the non-ASD outcomes of 3-year-old high-risk (HR) siblings of children with ASD.

Method: Two groups of children without ASD participated: 507 HR siblings and 324 low-risk (LR) control subjects (no known relatives with ASD).

Early neurodevelopment and self-reported adolescent symptoms of depression and anxiety in a National Canadian Cohort Study.

Objective: Little is known about the mental health outcomes of young children who experience developmental delay. The objective of this study was to assess whether delay in attaining developmental milestones was related to depressive and anxious symptoms in adolescence.

Method: The sample included 3508 Canadian children who participated in a nationally representative prospective cohort study.

The impact of autism services on mothers' occupational balance and participation.

This mixed-methods study examined the impact of professional services on employment and leisure participation of mothers of children with autism. In Phase 1, 139 mothers with a child with autism completed a comprehensive survey addressing their experiences with services and occupational participation. In Phase 2, in-depth interviews, informed by grounded theory methodology, were conducted with a sub-sample of 19 mothers to discuss their experiences with services and the relationship between services, employment, and leisure participation.

Immunization uptake in younger siblings of children with autism spectrum disorder.

Background: Parental concerns persist that immunization increases the risk of autism spectrum disorder, resulting in the potential for reduced uptake by parents of younger siblings of children with autism spectrum disorder ("younger sibs").

Objective: To compare immunization uptake by parents for their younger child relative to their older child with autism spectrum disorder ("proband") and controls.

Design: Immunization status was obtained for 98 "younger sibs," 98 "probands," and 65 controls.

Gestational age at birth and risk of autism spectrum disorders in Alberta, Canada.

Objective: To examine the association between autism spectrum disorders (ASD) and each completed week of gestation using a graphical method of presenting results at all possible categorizations of gestational age (GA).

Study Design: The risk of ASD in a total of 218110 singleton live births with complete data from Alberta, Canada between 1998 and 2004 was examined through linkage to health insurance records. The relative risk of developing ASD according to the 21 dichotomizations of shorter gestation (GA ≤ 23 weeks vs >23 weeks to ≤ 43 weeks vs >43 weeks, in 1-week increments) was calculated using log-binomial regression and adjusted for fetal sex, socioeconomic status, and birth year.

A prospective study of autistic-like traits in unaffected siblings of probands with autism spectrum disorder.

Context: The presence of autistic-like traits in relatives of individuals with autism spectrum disorder (ASD) is well recognized, but, to our knowledge, the emergence of these traits early in development has not been studied.

Objective: To prospectively investigate the emergence of autistic-like traits in unaffected (no ASD diagnosis) infant siblings of probands diagnosed as having ASD.

Design: Two groups of children unaffected with ASD were assessed prospectively-siblings of probands diagnosed as having ASD (high risk [HR]) and control subjects with no family history of ASD (low risk [LR]).

Investigating the measurement properties of the social responsiveness scale in preschool children with autism spectrum disorders.

The purpose of this study was to examine the measurement properties of the Social Responsiveness Scale in an accelerated longitudinal sample of 4-year-old preschool children with the complementary approaches of categorical confirmatory factor analysis and Rasch analysis. Measurement models based on the literature and other hypothesized measurement models which were tested using categorical confirmatory factor analysis did not fit well and were not unidimensional. Rasch analyses showed that a 30-item subset met criteria of unidimensionality and invariance across item, person, and over time; and this subset exhibited convergent validity with other child outcomes.

Investigating phenotypic heterogeneity in children with autism spectrum disorder: a factor mixture modeling approach.

Background: Autism spectrum disorder (ASD) is characterized by notable phenotypic heterogeneity, which is often viewed as an obstacle to the study of its etiology, diagnosis, treatment, and prognosis. On the basis of empirical evidence, instead of three binary categories, the upcoming edition of the DSM 5 will use two dimensions - social communication deficits (SCD) and fixated interests and repetitive behaviors (FIRB) - for the ASD diagnostic criteria. Building on this proposed DSM 5 model, it would be useful to consider whether empirical data on the SCD and FIRB dimensions can be used within the novel methodological framework of Factor Mixture Modeling (FMM) to stratify children with ASD into more homogeneous subgroups.

Individual common variants exert weak effects on the risk for autism spectrum disorders.

While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk.

Effects of emotional context on impulse control.

High risk behaviors such as narcotic use or physical fighting can be caused by impulsive decision making in emotionally-charged situations. Improved neuroscientific understanding of how emotional context interacts with the control of impulsive behaviors may lead to advances in public policy and/or treatment approaches for high risk groups, including some high-risk adolescents or adults with poor impulse control. Inferior frontal gyrus (IFG) is an important contributor to response inhibition (behavioral impulse control).

SHANK1 Deletions in Males with Autism Spectrum Disorder.

Recent studies have highlighted the involvement of rare (<1% frequency) copy-number variations and point mutations in the genetic etiology of autism spectrum disorder (ASD); these variants particularly affect genes involved in the neuronal synaptic complex. The SHANK gene family consists of three members (SHANK1, SHANK2, and SHANK3), which encode scaffolding proteins required for the proper formation and function of neuronal synapses. Although SHANK2 and SHANK3 mutations have been implicated in ASD and intellectual disability, the involvement of SHANK1 is unknown.

Sex differences in children with autism spectrum disorder identified within a high-risk infant cohort.

Sex differences were examined in 3-year-olds with autism spectrum disorders (ASD) ascertained from a high-risk cohort, and high- and low-risk comparison groups. Participants included 319 high-risk siblings and 129 low-risk controls. Eighty-five siblings were diagnosed with ASD, including 57 of 176 boys (32.

Neuropsychological impairments on the NEPSY-II among children with FASD.

Background: We examined the pattern of neuropsychological impairments of children with FASD (compared to controls) on NEPSY-II measures of attention and executive functioning, language, memory, visuospatial processing, and social perception.

Methods: Participants included 32 children with FASD and 30 typically developing control children, ranging in age from 6 to 16 years. Children were tested on the following subtests of the NEPSY-II: Attention and Executive Functioning (animal sorting, auditory attention/response set, and inhibition), Language (comprehension of instructions and speeded naming), Memory (memory for names/delayed memory for names), Visual-Spatial Processing (arrows), and Social Perception (theory of mind).

Differences in white matter fiber tract development present from 6 to 24 months in infants with autism.

Objective: Evidence from prospective studies of high-risk infants suggests that early symptoms of autism usually emerge late in the first or early in the second year of life after a period of relatively typical development. The authors prospectively examined white matter fiber tract organization from 6 to 24 months in high-risk infants who developed autism spectrum disorders (ASDs) by 24 months.

Method: The participants were 92 high-risk infant siblings from an ongoing imaging study of autism.