Developmental Regression in Children with Autism Spectrum Disorder: Associated Factors and Outcomes

Autism spectrum disorder (ASD) is an increasingly common neurodevelopmental disorder characterized by deficits in socialization skills and the presence of restricted and repetitive behaviors. In addition to a number of medical and psychological comorbidities, ASD is associated with a complex phenomenon: developmental regression (i.e., loss of skills in developmental domains). Although present in other disorders (albeit rare), developmental regression is prevalent among individuals with ASD. Thus, interest in studying the phenomenon has grown. However, research on associated risk factors and outcomes is limited and findings have been inconsistent. The current study had two aims: (1) examine potential factors associated with developmental regression in children with ASD, and (2) compare outcomes between children with and without a history of developmental regression. Gender, race/ethnicity, maternal age, paternal age, and history of seizures were not significantly associated with developmental regression. Children who regressed were found to exhibit greater severity in ASD symptoms and adaptive deficits in the communication domain. Implications of these findings are discussed

An Examination of Autism Symptomatology in Young Children with Family History of Autism Spectrum Disorder

Multiple genetic and environmental factors have roles in the etiology of autism spectrum disorder (ASD). Thus, researchers have become increasingly interested in studying family members of individuals with ASD in order to examine possible risk factors and to identify early markers of the disorder. While family history of ASD may put an individual at risk for developing autism, there is limited research examining how the degree of relationship to the affected individual may be related to an individual’s presenting ASD symptomatology. Because closer familial relationships (i.e., first-degree relatives) have more shared genetic material and tend to have increased common environment than more distal relationships (i.e., second- or third-degree relatives), the present study aimed to examine if there was an association between degree of relationship and autism symptomatology in young children with a family history of ASD. Participants included 470 young children (M = 25.64 months, SD = 5.07) recruited through a statewide early intervention program who were diagnosed with ASD or identified as atypically developing with a family history of ASD. Regression analyses were conducted to investigate the relationships between group (e.g., ASD and atypically developing), degree of relationship (e.g., first-degree and second- or third-degree), and the interaction between group and degree of relationship and ASD symptomatology. Implications and clinical utility of these results are discussed

The association between familial ASD diagnosis, autism symptomatology and developmental functioning in young children

Few studies have directly compared individuals with and without a relative diagnosed with ASD on various domains. The present study aimed to examine the relationship between familial ASD diagnosis and the exhibition of ASD symptoms in young children with and without ASD diagnoses. Participants included 8353 children aged 17-37 months old and their families. They were divided into four groups based on individual and family diagnosis, then compared on autism symptomatology and developmental domains. No differences were found between ASD groups on overall scores and each of the factor domains, indicating no association between family ASD diagnosis and ASD symptomatology or developmental functioning. Disparate results were found for atypically developing groups with and without relatives diagnosed with ASD. Implications of these results are discussed

Factors related to parental age of first concern in toddlers with autism spectrum disorder

PURPOSE: The age of first concern (AOC) of parents of children with autism spectrum disorders (ASD) has substantial implications for early diagnosis and intervention. The current study sought to determine the average AOC, what types of first concerns are most common, and what factors predict earlier AOC in toddlers with ASD. METHODS: This study analyzed the predictive influence of the type of concern, symptom severity, medical diagnoses, and other independent variables on AOC among toddlers with ASD using multiple regressions. RESULTS: The mean AOC was found to be 13.97 months (SD = 7.86). The most commonly reported first concern was speech/language. First concerns related to communication, speech/language predicted later AOC, while motor concerns predicted earlier AOC. CONCLUSIONS: Concerns that are more closely related to social communication deficits characteristic of ASD predicted later AOC. The implications of these findings on screening/assessment and intervention are discussed

Community-Academic Partnerships: A Systematic Review of the State of the Literature and Recommendations for Future Research.

Policy pointsCommunities, funding agencies, and institutions are increasingly involving community stakeholders as partners in research, to provide firsthand knowledge and insight. Based on our systematic review of major literature databases, we recommend using a single term, community-academic partnership (CAP), and a conceptual definition to unite multiple research disciplines and strengthen the field. Interpersonal and operational factors that facilitate or hinder the collaborative process have been consistently identified, including "trust among partners" and "respect among partners" (facilitating interpersonal factors) and "excessive time commitment" (hindering operational factor). Once CAP processes and characteristics are better understood, the effectiveness of collaborative partner involvement can be tested.ContextCommunities, funding agencies, and institutions are increasingly involving community stakeholders as partners in research. Community stakeholders can provide firsthand knowledge and insight, thereby increasing research relevance and feasibility. Despite the greater emphasis and use of community-academic partnerships (CAP) across multiple disciplines, definitions of partnerships and methodologies vary greatly, and no systematic reviews consolidating this literature have been published. The purpose of this article, then, is to facilitate the continued growth of this field by examining the characteristics of CAPs and the current state of the science, identifying the facilitating and hindering influences on the collaborative process, and developing a common term and conceptual definition for use across disciplines.MethodsOur systematic search of 6 major literature databases generated 1,332 unique articles, 50 of which met our criteria for inclusion and provided data on 54 unique CAPs. We then analyzed studies to describe CAP characteristics and to identify the terms and methods used, as well as the common influences on the CAP process and distal outcomes.FindingsCAP research spans disciplines, involves a variety of community stakeholders, and focuses on a large range of study topics. CAP research articles, however, rarely report characteristics such as membership numbers or duration. Most studies involved case studies using qualitative methods to collect data on the collaborative process. Although various terms were used to describe collaborative partnerships, few studies provided conceptual definitions. Twenty-three facilitating and hindering factors influencing the CAP collaboration process emerged from the literature. Outcomes from the CAPs most often included developing or refining tangible products.ConclusionsBased on our systematic review, we recommend using a single term, community-academic partnership, as well as a conceptual definition to unite multiple research disciplines. In addition, CAP characteristics and methods should be reported more systematically to advance the field (eg, to develop CAP evaluation tools). We have identified the most common influences that facilitate and hinder CAPs, which in turn should guide their development and sustainment

Community-Academic Partnerships: A Systematic Review of the State of the Literature and Recommendations for Future Research.

Policy pointsCommunities, funding agencies, and institutions are increasingly involving community stakeholders as partners in research, to provide firsthand knowledge and insight. Based on our systematic review of major literature databases, we recommend using a single term, community-academic partnership (CAP), and a conceptual definition to unite multiple research disciplines and strengthen the field. Interpersonal and operational factors that facilitate or hinder the collaborative process have been consistently identified, including "trust among partners" and "respect among partners" (facilitating interpersonal factors) and "excessive time commitment" (hindering operational factor). Once CAP processes and characteristics are better understood, the effectiveness of collaborative partner involvement can be tested.ContextCommunities, funding agencies, and institutions are increasingly involving community stakeholders as partners in research. Community stakeholders can provide firsthand knowledge and insight, thereby increasing research relevance and feasibility. Despite the greater emphasis and use of community-academic partnerships (CAP) across multiple disciplines, definitions of partnerships and methodologies vary greatly, and no systematic reviews consolidating this literature have been published. The purpose of this article, then, is to facilitate the continued growth of this field by examining the characteristics of CAPs and the current state of the science, identifying the facilitating and hindering influences on the collaborative process, and developing a common term and conceptual definition for use across disciplines.MethodsOur systematic search of 6 major literature databases generated 1,332 unique articles, 50 of which met our criteria for inclusion and provided data on 54 unique CAPs. We then analyzed studies to describe CAP characteristics and to identify the terms and methods used, as well as the common influences on the CAP process and distal outcomes.FindingsCAP research spans disciplines, involves a variety of community stakeholders, and focuses on a large range of study topics. CAP research articles, however, rarely report characteristics such as membership numbers or duration. Most studies involved case studies using qualitative methods to collect data on the collaborative process. Although various terms were used to describe collaborative partnerships, few studies provided conceptual definitions. Twenty-three facilitating and hindering factors influencing the CAP collaboration process emerged from the literature. Outcomes from the CAPs most often included developing or refining tangible products.ConclusionsBased on our systematic review, we recommend using a single term, community-academic partnership, as well as a conceptual definition to unite multiple research disciplines. In addition, CAP characteristics and methods should be reported more systematically to advance the field (eg, to develop CAP evaluation tools). We have identified the most common influences that facilitate and hinder CAPs, which in turn should guide their development and sustainment

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation

De novo mutation plays an important role in autism spectrum disorders (ASDs). Notably, pathogenic copy number variants (CNVs) are characterized by high mutation rates. We hypothesize that hypermutability is a property of ASD genes and may also include nucleotide-substitution hot spots. We investigated global patterns of germline mutation by whole-genome sequencing of monozygotic twins concordant for ASD and their parents. Mutation rates varied widely throughout the genome (by 100-fold) and could be explained by intrinsic characteristics of DNA sequence and chromatin structure. Dense clusters of mutations within individual genomes were attributable to compound mutation or gene conversion. Hypermutability was a characteristic of genes involved in ASD and other diseases. In addition, genes impacted by mutations in this study were associated with ASD in independent exome-sequencing data sets. Our findings suggest that regional hypermutation is a significant factor shaping patterns of genetic variation and disease risk in humans. PaperFlick