Parental Expressed Emotion, Parenting Stress, and Behavioral Problems of Young Children with 22q11.2 Deletion Syndrome and Idiopathic Autism Spectrum Disorder.

This study examined the associations of parents' expressed emotion (EE) and parenting stress, with behavioral problems of children with 22q11.2 deletion syndrome, idiopathic autism (iASD) and typically developing (TD) children. Parents of children aged 3-8 years completed the five-minute-speech-sample (FMSS), parental stress index and children behavioral checklist. Parents' FMSS-EE-criticism was higher among parents of children with 22q11DS and iASD compared to parents of TD children. FMSS-EE scores predicted children's behavioral problems, above and beyond parenting stress. The associations between FMSS-EE, parenting stress and children's behavioral problems were consistent across 22q11DS, iASD and TD children. These findings highlight the need for targeting parents' EE and parenting stress as integral elements in the screening and prevention of behavioral problems of young children with 22q11DS and iASD.

Attention allocation to facial expressions of emotion among persons with Williams and Down syndromes.

Individuals with Williams syndrome and those with Down syndrome are both characterized by heightened social interest, although the manifestation is not always similar. Using a dot-probe task, we examined one possible source of difference: allocation of attention to facial expressions of emotion. Thirteen individuals with Williams syndrome (mean age = 19.2 years, range = 10-28.6), 20 with Down syndrome (mean age = 18.8 years, range = 12.1-26.3), and 19 typically developing children participated. The groups were matched for mental age (mean = 5.8 years). None of the groups displayed a bias to angry faces. The participants with Williams syndrome showed a selective bias toward happy faces, whereas the participants with Down syndrome behaved similarly to the typically developing participants with no such bias. Homogeneity in the direction of bias was markedly highest in the Williams syndrome group whose bias appeared to result from enhanced attention capture. They appeared to rapidly and selectively allocate attention toward positive facial expressions. The complexity of social approach behavior and the need to explore other aspects of cognition that may be implicated in this behavior in both syndromes is discussed.

Immunological and autoimmune considerations of Autism Spectrum Disorders.

Autism Spectrum Disorders (ASD) are a group of heterogeneous neurodevelopmental conditions presenting in early childhood with a prevalence ranging from 0.7% to 2.64%. Social interaction and communication skills are impaired and children often present with unusual repetitive behavior. The condition persists for life with major implications for the individual, the family and the entire health care system. While the etiology of ASD remains unknown, various clues suggest a possible association with altered immune responses and ASD. Inflammation in the brain and CNS has been reported by several groups with notable microglia activation and increased cytokine production in postmortem brain specimens of young and old individuals with ASD. Moreover several laboratories have isolated distinctive brain and CNS reactive antibodies from individuals with ASD. Large population based epidemiological studies have established a correlation between ASD and a family history of autoimmune diseases, associations with MHC complex haplotypes, and abnormal levels of various inflammatory cytokines and immunological markers in the blood. In addition, there is evidence that antibodies that are only present in some mothers of children with ASD bind to fetal brain proteins and may be a marker or risk factor for ASD. Studies involving the injection of these ASD specific maternal serum antibodies into pregnant mice during gestation, or gestational exposure of Rhesus monkeys to IgG subclass of these antibodies, have consistently elicited behavioral changes in offspring that have relevance to ASD. We will summarize the various types of studies associating ASD with the immune system, critically evaluate the quality of these studies, and attempt to integrate them in a way that clarifies the areas of immune and autoimmune phenomena in ASD research that will be important indicators for future research.

The Role of Diagnostic Instruments in Dual and Differential Diagnosis in Autism Spectrum Disorder Across the Lifespan.

The heterogeneity inherent in autism spectrum disorder (ASD) makes the identification and diagnosis of ASD complex. We survey a large number of diagnostic tools, including screeners and tools designed for in-depth assessment. We also discuss the challenges presented by overlapping symptomatology between ASD and other disorders and the need to determine whether a diagnosis of ASD or another diagnosis best explains the individual's symptoms. We conclude with a call to action for the next steps necessary for meeting the diagnostic challenges presented here to improve the diagnostic process and to help understand each individual's particular ASD profile.

Diagnosis of Autism Spectrum Disorder Across the Lifespan.

Although autism spectrum disorder (ASD) is one of the most common neurodevelopmental disorders it is also one of the most heterogeneous conditions, making identification and diagnosis complex. The importance of a stable and consistent diagnosis cannot be overstated. An accurate diagnosis is the basis for understanding the individual and establishing an individualized treatment plan. We present those elements that should be included in any assessment for ASD and describe the ways in which ASD typically manifests itself at various developmental stages. The implications and challenges for assessment at different ages and levels of functioning are discussed.

Diagnosis of Autism Spectrum Disorder Across the Lifespan.

Although autism spectrum disorder (ASD) is one of the most common neurodevelopmental disorders it is also one of the most heterogeneous conditions, making identification and diagnosis complex. The importance of a stable and consistent diagnosis cannot be overstated. An accurate diagnosis is the basis for understanding the individual and establishing an individualized treatment plan. We present those elements that should be included in any assessment for ASD and describe the ways in which ASD typically manifests itself at various developmental stages. The implications and challenges for assessment at different ages and levels of functioning are discussed.

The Role of Diagnostic Instruments in Dual and Differential Diagnosis in Autism Spectrum Disorder Across the Lifespan.

The heterogeneity inherent in autism spectrum disorder (ASD) makes the identification and diagnosis of ASD complex. We survey a large number of diagnostic tools, including screeners and tools designed for in-depth assessment. We also discuss the challenges presented by overlapping symptomatology between ASD and other disorders and the need to determine whether a diagnosis of ASD or another diagnosis best explains the individual's symptoms. We conclude with a call to action for the next steps necessary for meeting the diagnostic challenges presented here to improve the diagnostic process and to help understand each individual's particular ASD profile.

Mothers and Toddlers Exposed to Political Violence: Severity of Exposure, Emotional Availability, Parenting Stress, and Toddlers' Behavior Problems.

This study examined the potential risks of maternal and child exposure to traumatic events resulting from political violence, specifically those related to emotional availability, parenting stress and children's behavioral problems. It also evaluated the feasibility of mitigating these effects through a play-based group intervention for conjoint dyads of mothers and toddlers. Results from 54 dyads show that the higher maternal and especially child exposure to political violence and other trauma, the lower their emotional availability in dyadic interactions (r = .40, p < .01). Emotional availability was associated with the mother's parenting stress, and both parenting stress and emotional availability were associated with the mother's perceptions of her child's behavior problems. Comparisons of observed emotional availability, child behavior problems as perceived by the mother, and reported stress in 28 dyads before and after participating in the intervention suggest that it may be possible to bolster emotional availability and to reduce child's behavior problems.

Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism.

BACKGROUND: The 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition characterized by high rates of psychiatric disorders. To our knowledge, this is the first study to assess psychiatric disorders in young children with 22q11DS using a structured psychiatric diagnostic interview, and one of few studies to use the complete gold standard diagnostic evaluation to examine the prevalence of autism spectrum disorder (ASD) in young children with 22q11DS and compare it to a matched control group with iASD. METHODS: We identified the psychiatric disorders and autistic phenotype of young children with 22q11DS (age 3-8 years) and compared them with those of age and sex-matched children with idiopathic autism (iASD). We used the gold standard psychiatric and ASD assessments including the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule (ADOS) and a clinical examination by a child psychiatrist. RESULTS: Eighty-four percent of the children with 22q11DS had at least one psychiatric disorder, including anxiety disorders and ADHD, and 16% met strict criteria for ASD. Children with 22q11DS and ASD symptoms had less severe overall ASD symptoms than those with iASD. Children with 22q11DS, regardless of ASD diagnosis, were characterized by repetitive restricted behaviors. CONCLUSIONS: Our results highlight the need to screen for psychiatric disorders in 22q11DS and treat them already in preschool years.

Family Accommodation in Autism Spectrum Disorder.

Family accommodation occurs frequently among families of children with OCD and anxiety disorders, with higher levels of accommodation repeatedly associated with greater symptom severity, lower functioning, and poorer treatment outcomes for children. This is the first examination of family accommodation of restricted and repetitive behaviors (RRBs) in children with autism spectrum disorder (ASD). Parents of children with ASD (N = 86) completed questionnaires assessing their children's RRBs and parental accommodation of these symptoms. Most participants (80%) reported engaging in accommodation at least once a month and family accommodation was significantly positively correlated with RRB severity. These results suggest accommodation of RRBs follows a pattern similar to that reported in obsessive compulsive and anxiety disorders, and highlight avenues for potential parent-based interventions.

The Gestalt of functioning in autism spectrum disorder: Results of the international conference to develop final consensus International Classification of Functioning, Disability and Health core sets.

Autism spectrum disorder is associated with diverse social, educational, and occupational challenges. To date, no standardized, internationally accepted tools exist to assess autism spectrum disorder-related functioning. World Health Organization's International Classification of Functioning, Disability and Health can serve as foundation for developing such tools. This study aimed to identify a comprehensive, a common brief, and three age-appropriate brief autism spectrum disorder Core Sets. Four international preparatory studies yielded in total 164 second-level International Classification of Functioning, Disability and Health candidate categories. Based on this evidence, 20 international autism spectrum disorder experts applied an established iterative decision-making consensus process to select from the candidate categories the most relevant ones to constitute the autism spectrum disorder Core Sets. The consensus process generated 111 second-level International Classification of Functioning, Disability and Health categories in the Comprehensive Core Set for autism spectrum disorder-one body structure, 20 body functions, 59 activities and participation categories, and 31 environmental factors. The Common Brief Core Set comprised 60 categories, while the age-appropriate core sets included 73 categories in the preschool version (0- to 5-year-old children), 81 in the school-age version (6- to 16-year-old children and adolescents), and 79 in the older adolescent and adult version (⩾17-year-old individuals). The autism spectrum disorder Core Sets mark a milestone toward the standardized assessment of autism spectrum disorder-related functioning in educational, administrative, clinical, and research settings.

Associations among mothers' representations of their relationship with their toddlers, maternal parenting stress, and toddlers' internalizing and externalizing behaviors.

This study examined the array of associations among the emotional valence and the coherence of mothers' representations of their relationship with their toddlers, mothers' reported parenting stress, and toddlers' internalizing and externalizing behaviors. To evaluate maternal representations, 55 mothers were interviewed using the Five Minute Speech Sample procedure (FMSS; Magaña et al., 1986), which was coded for criticism and positive comments (Magana-Amato, 1993), as well as coherence (Sher-Censor & Yates, 2015). Mothers also completed the Parenting Stress Index - Short Form (PSI; Abidin, 1997) to evaluate their parenting stress and the Child Behavior Checklist (CBCL/1.5-5; Achenbach & Rescorla, 2000) to assess their toddlers' internalizing and externalizing behaviors. Results indicated that parenting stress was associated with maternal criticism and fewer positive comments in the FMSS, but not with the coherence of mothers' FMSS. Parenting stress, criticism, and lower coherence in the FMSS were associated with maternal reports of externalizing behaviors. Only parenting stress and lower coherence in the FMSS were related to mothers' reports of internalizing behaviors of the child. Thus, the emotional valence and the coherence of mothers' representations of their relationship with their child and parenting stress may each constitute a distinct aspect of parenting and contribute to the understanding of individual differences in toddlers' internalizing and externalizing behaviors. Implications for research and practice with families of toddlers are discussed.

Inference From Facial Expressions Among Adolescents and Young Adults With Down Syndrome.

The focus of this study was the ability of adolescents and young adults with Down syndrome to infer meaning from facial expressions in the absence of emotion labels and use this inference in order to adjust their behavior. Participants with Down syndrome ( N = 19, mean nonverbal mental age of 5.8 years) and 4- to 7-year-old typically developing children performed a novel task in which happy and angry faces were provided as feedback for a choice made by the participants. In making a subsequent choice, the participants with Down syndrome performed similarly to the 4 year olds, indicating a difficulty using angry faces as feedback. Individual differences within the group were also apparent. Implications for the development of social competence are discussed.

Autism from 2 to 9 years of age.

CONTEXT: Autism represents an unusual pattern of development beginning in the infant and toddler years. OBJECTIVES: To examine the stability of autism spectrum diagnoses made at ages 2 through 9 years and identify features that predicted later diagnosis. DESIGN: Prospective study of diagnostic classifications from standardized instruments including a parent interview (Autism Diagnostic Interview-Revised [ADI-R]), an observational scale (Pre-Linguistic Autism Diagnostic Observation Schedule/Autism Diagnostic Observation Schedule [ADOS]), and independent clinical diagnoses made at ages 2 and 9 years compared with a clinical research team's criterion standard diagnoses. SETTING: Three inception cohorts: consecutive referrals for autism assessment to (1) state-funded community autism centers, (2) a private university autism clinic, and (3) case controls with developmental delay from community clinics. PARTICIPANTS: At 2 years of age, 192 autism referrals and 22 developmentally delayed case controls; 172 children seen at 9 years of age. MAIN OUTCOME MEASURES: Consensus best-estimate diagnoses at 9 years of age. RESULTS: Percentage agreement between best-estimate diagnoses at 2 and 9 years of age was 67, with a weighted kappa of 0.72. Diagnostic change was primarily accounted for by movement from pervasive developmental disorder not otherwise specified to autism. Each measure at age 2 years was strongly prognostic for autism at age 9 years, with odds ratios of 6.6 for parent interview, 6.8 for observation, and 12.8 for clinical judgment. Once verbal IQ (P = .001) was taken into account at age 2 years, the ADI-R repetitive domain (P = .02) and the ADOS social (P = .05) and repetitive domains (P = .005) significantly predicted autism at age 9 years. CONCLUSIONS: Diagnostic stability at age 9 years was very high for autism at age 2 years and less strong for pervasive developmental disorder not otherwise specified. Judgment of experienced clinicians, trained on standard instruments, consistently added to information available from parent interview and standardized observation.

Advancing paternal age and autism.

CONTEXT: Maternal and paternal ages are associated with neurodevelopmental disorders. OBJECTIVE: To examine the relationship between advancing paternal age at birth of offspring and their risk of autism spectrum disorder (ASD). DESIGN: Historical population-based cohort study. SETTING: Identification of ASD cases from the Israeli draft board medical registry. PARTICIPANTS: We conducted a study of Jewish persons born in Israel during 6 consecutive years. Virtually all men and about three quarters of women in this cohort underwent draft board assessment at age 17 years. Paternal age at birth was obtained for most of the cohort; maternal age was obtained for a smaller subset. We used the smaller subset (n = 132 271) with data on both paternal and maternal age for the primary analysis and the larger subset (n = 318 506) with data on paternal but not maternal age for sensitivity analyses. MAIN OUTCOME MEASURES: Information on persons coded as having International Classification of Diseases, 10th Revision ASD was obtained from the registry. The registry identified 110 cases of ASD (incidence, 8.3 cases per 10 000 persons), mainly autism, in the smaller subset with complete parental age data. RESULTS: There was a significant monotonic association between advancing paternal age and risk of ASD. Offspring of men 40 years or older were 5.75 times (95% confidence interval, 2.65-12.46; P<.001) more likely to have ASD compared with offspring of men younger than 30 years, after controlling for year of birth, socioeconomic status, and maternal age. Advancing maternal age showed no association with ASD after adjusting for paternal age. Sensitivity analyses indicated that these findings were not the result of bias due to missing data on maternal age. CONCLUSIONS: Advanced paternal age was associated with increased risk of ASD. Possible biological mechanisms include de novo mutations associated with advancing age or alterations in genetic imprinting.

Patterns of growth in verbal abilities among children with autism spectrum disorder.

Verbal skills were assessed at approximately ages 2, 3, 5, and 9 years for 206 children with a clinical diagnosis of autism (n = 98), pervasive developmental disorders-not otherwise specified (PDD-NOS; n = 58), or nonspectrum developmental disabilities (n = 50). Growth curve analyses were used to analyze verbal skills trajectories over time. Nonverbal IQ and joint attention emerged as strong positive predictors of verbal outcome. The gap between the autism and other 2 groups widened with time as the latter improved at a higher rate. However, there was considerable variability within diagnostic groups. Children with autism most at risk for more serious language impairments later in life can be identified with considerable accuracy at a very young age, while improvement can range from minimal to dramatic.

Attention to eyes and mouth in high-functioning children with autism.

In the present study, we used a probe-detection task to compare attentional allocation to the eyes versus mouth regions of the face in high-functioning boys with autism relative to normal control boys matched for chronological age and IQs. We found that with upright faces, children from both groups attended more to the eyes region than to the mouth region, and to the same extent. This pattern of behavior was observed for not only initial orientation of attention, but also when enough time was provided for attention to be disengaged from its initial locus. The present findings suggest that atypical face processing in autism does not result from abnormal attentional allocation to the different face parts.

Functioning and disability in autism spectrum disorder: A worldwide survey of experts.

OBJECTIVE: This study is the second of four to prepare International Classification of Functioning, Disability and Health (ICF; and Children and Youth version, ICF(-CY)) Core Sets for Autism Spectrum Disorder (ASD).The objective of this study was to survey the opinions and experiences of international experts on functioning and disability in ASD. METHODS: Using a protocol stipulated by the World Health Organization (WHO) and monitored by the ICF Research Branch, an email-based questionnaire was circulated worldwide among ASD experts, and meaningful functional ability and disability concepts were extracted from their responses. These concepts were then linked to the ICF(-CY) by two independent researchers using a standardized linking procedure. RESULTS: N = 225 experts from 10 different disciplines and all six WHO-regions completed the survey. Meaningful concepts from the responses were linked to 210 ICF(-CY) categories. Of these, 103 categories were considered most relevant to ASD (i.e., identified by at least 5% of the experts), of which 37 were related to Activities and Participation, 35 to Body functions, 22 to Environmental factors, and 9 to Body structures. A variety of personal characteristics and ASD-related functioning skills were provided by experts, including honesty, loyalty, attention to detail and creative talents. Reported gender differences in ASD comprised more externalizing behaviors among males and more internalizing behaviors in females. CONCLUSION: The ICF(-CY) categories derived from international expert opinions indicate that the impact of ASD on functioning extends far beyond core symptom domains. Autism Res 2016, 9: 959-969. © 2016 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.

Voluntary orienting among children and adolescents with Down syndrome and MA-matched typically developing children.

A forced-choice reaction-time (RT) task was used to examine voluntary visual orienting among children and adolescents with trisomy 21 Down syndrome and typically developing children matched at an MA of approximately 5.6 years, an age when the development of orienting abilities reaches optimal adult-like efficiency. Both groups displayed faster reaction times (RTs) when the target location was cued correctly than when cued incorrectly under both short and long SOA conditions, indicating intact orienting among children with Down syndrome. This finding is further evidence that the efficiency of many of the primary components of attention among persons with Down syndrome is consistent with their developmental level.

Ability and Disability in Autism Spectrum Disorder: A Systematic Literature Review Employing the International Classification of Functioning, Disability and Health-Children and Youth Version.

OBJECTIVE: This study is the first in a series of four empirical investigations to develop International Classification of Functioning, Disability and Health (ICF) Core Sets for Autism Spectrum Disorder (ASD). The objective was to use a systematic review approach to identify, number, and link functional ability and disability concepts used in the scientific ASD literature to the nomenclature of the ICF-CY (Children and Youth version of the ICF, covering the life span). METHODS: Systematic searches on outcome studies of ASD were carried out in Medline/PubMed, PsycINFO, ERIC and Cinahl, and relevant functional ability and disability concepts extracted from the included studies. These concepts were then linked to the ICF-CY by two independent researchers using a standardized linking procedure. New concepts were extracted from the studies until saturation of identified ICF-CY categories was reached. RESULTS: Seventy-one studies were included in the final analysis and 2475 meaningful concepts contained in these studies were linked to 146 ICF-CY categories. Of these, 99 categories were considered most relevant to ASD (i.e., identified in at least 5% of the studies), of which 63 were related to Activities and Participation, 28 were related to Body functions, and 8 were related to Environmental factors. The five most frequently identified categories were basic interpersonal interactions (51%), emotional functions (49%), complex interpersonal interactions (48%), attention functions (44%), and mental functions of language (44%). CONCLUSION: The broad variety of ICF-CY categories identified in this study reflects the heterogeneity of functional differences found in ASD--both with respect to disability and exceptionality--and underlines the potential value of the ICF-CY as a framework to capture an individual's functioning in all dimensions of life. The current results in combination with three additional preparatory studies (expert survey, focus groups, and clinical study) will provide the scientific basis for defining the ICF Core Sets for ASD for multipurpose use in basic and applied research and every day clinical practice of ASD.