A Developmental Approach to Sibling Relationships: Disaggregating the Components of Sibling Relationship Quality over Time for Siblings of Individuals with Intellectual Disability

Siblings can serve as significant companions and caregivers for individuals with ID throughout the lifespan. Yet, the developmental course of sibling relationships for siblings of individuals with ID has not been well addressed in the current literature. Thus, the current study examined change over time in four dimensions of relationship quality (power, intimacy, conflict, and rivalry) as well as how the constellation variables of sex, birth order, and age differences affected the development of relationship quality. Sibling relationships were found to have a stable power structure, with the nondisabled sibling reporting higher levels of power in the relationship. Developmental trajectories indicated that these relationships grew in positive regard while levels of conflict decreased over time. Yet, behaviors characterizing intimate relationships did not show similar increases. Constellation variables were found to have effects on specific relationship dimensions, including conflict and intimate behaviors

Developmental Trajectories of Marriage, Coparenting, and Parenting Stress for Parents of Adolescents and Young Adults with Intellectual Disability

This study assessed marital quality, coparenting, and parenting stress over time for parents of children with intellectual disability by creating developmental trajectories from longitudinal data. Both mothers and fathers (N = 152 couples), with children ages 6-18 at the first wave, evaluated their relationship and parenting stress on up to 4 occasions over a 14-year period. The study provided separate models of change over time for mothers and fathers which showed that marital quality, coparenting, and parenting stress are dynamic relationship constructs that changed during the child’s development. Overall, marital quality was found to follow a curvilinear pattern, with declines when children were adolescents and increases as children entered young adulthood. Positive coparenting increased linearly over time for mothers and fathers, and negative coparenting declined linearly for mothers. With an emphasis on transition periods in the family life cycle, trajectories included indicators of the child’s development to allow for periods of discrete change in the trajectories based on the child’s entrance into adolescence and young adulthood. The child’s entrances into these developmental periods were associated with changes in levels of marital quality and coparenting for mothers only. Patterns for stress over time depended on the parent reporting, with mothers reporting decreases in parent and family problems over time and a quadratic trend for pessimism, with initial growth in reported pessimism followed by declines as the children exited adolescence. Fathers, however, did not report significant changes for parent and family problems and perceived increases in pessimism with time. The study also assessed how support in the marital and coparenting roles with time is associated with levels of parenting stress. Marital quality consistently predicted lower levels of parent and family problems for both parents, but findings for associations between marital quality and pessimism, and coparenting with both types of stress, varied depending on the parent reporting

Development and replication of objective measurements of social visual engagement to aid in early diagnosis and assessment of autism

IMPORTANCE: Autism spectrum disorder is a common and early-emerging neurodevelopmental condition. While 80% of parents report having had concerns for their child\u27s development before age 2 years, many children are not diagnosed until ages 4 to 5 years or later. OBJECTIVE: To develop an objective performance-based tool to aid in early diagnosis and assessment of autism in children younger than 3 years. DESIGN, SETTING, AND PARTICIPANTS: In 2 prospective, consecutively enrolled, broad-spectrum, double-blind studies, we developed an objective eye-tracking-based index test for children aged 16 to 30 months, compared its performance with best-practice reference standard diagnosis of autism (discovery study), and then replicated findings in an independent sample (replication study). Discovery and replication studies were conducted in specialty centers for autism diagnosis and treatment. Reference standard diagnoses were made using best-practice standardized protocols by specialists blind to eye-tracking results. Eye-tracking tests were administered by staff blind to clinical results. Children were enrolled from April 27, 2013, until September 26, 2017. Data were analyzed from March 28, 2018, to January 3, 2019. MAIN OUTCOMES AND MEASURES: Prespecified primary end points were the sensitivity and specificity of the eye-tracking-based index test compared with the reference standard. Prespecified secondary end points measured convergent validity between eye-tracking-based indices and reference standard assessments of social disability, verbal ability, and nonverbal ability. RESULTS: Data were collected from 1089 children: 719 children (mean [SD] age, 22.4 [3.6] months) in the discovery study, and 370 children (mean [SD] age, 25.4 [6.0] months) in the replication study. In discovery, 224 (31.2%) were female and 495 (68.8%) male; in replication, 120 (32.4%) were female and 250 (67.6%) male. Based on reference standard expert clinical diagnosis, there were 386 participants (53.7%) with nonautism diagnoses and 333 (46.3%) with autism diagnoses in discovery, and 184 participants (49.7%) with nonautism diagnoses and 186 (50.3%) with autism diagnoses in replication. In the discovery study, the area under the receiver operating characteristic curve was 0.90 (95% CI, 0.88-0.92), sensitivity was 81.9% (95% CI, 77.3%-85.7%), and specificity was 89.9% (95% CI, 86.4%-92.5%). In the replication study, the area under the receiver operating characteristic curve was 0.89 (95% CI, 0.86-0.93), sensitivity was 80.6% (95% CI, 74.1%-85.7%), and specificity was 82.3% (95% CI, 76.1%-87.2%). Eye-tracking test results correlated with expert clinical assessments of children\u27s individual levels of ability, explaining 68.6% (95% CI, 58.3%-78.6%), 63.4% (95% CI, 47.9%-79.2%), and 49.0% (95% CI, 33.8%-65.4%) of variance in reference standard assessments of social disability, verbal ability, and nonverbal cognitive ability, respectively. CONCLUSIONS AND RELEVANCE: In two diagnostic studies of children younger than 3 years, objective eye-tracking-based measurements of social visual engagement quantified diagnostic status as well as individual levels of social disability, verbal ability, and nonverbal ability in autism. These findings suggest that objective measurements of social visual engagement can be used to aid in autism diagnosis and assessment

Canonical babbling trajectories across the first year of life in autism and typical development

This study explores vocal development as an early marker of autism, focusing on canonical babbling (CB) rate and onset, typically established by seven months. Previous reports suggested delayed or reduced CB in infants later diagnosed with autism, but the story may be complicated. We present a prospective study on 44 infants later diagnosed with autism spectrum disorder (ASD) compared with 127 infants later identified as typically developing (TD) who were followed longitudinally with day-long recordings from 0-13 months. Eight 5-minute segments from each of their recordings were coded for canonical and non-canonical syllables. The results confirmed many reports that CB is a robust feature of human vocal development in the first year of life, with small overall mean differences in CB rates between the ASD and TD groups beginning around 9 months, primarily in males. Our findings highlight the importance of considering sex differences in vocal communication as part of the early detection and diagnosis of autism when determining the need for communication supports to maximize outcomes

Data from: Historical contingency in a multigene family facilitates adaptive evolution of toxin resistance

Novel adaptations must originate and function within an already established genome [ 1 ]. As a result, the ability of a species to adapt to new environmental challenges is predicted to be highly contingent on the evolutionary history of its lineage [ 2–6 ]. Despite a growing appreciation of the importance of historical contingency in the adaptive evolution of single proteins [ 7–11 ], we know surprisingly little about its role in shaping complex adaptations that require evolutionary change in multiple genes. One such adaptation, extreme resistance to tetrodotoxin (TTX), has arisen in several species of snakes through coevolutionary arms races with toxic amphibian prey, which select for TTX-resistant voltage-gated sodium channels (Nav) [ 12–16 ]. Here, we show that the relatively recent origins of extreme toxin resistance, which involve the skeletal muscle channel Nav1.4, were facilitated by ancient evolutionary changes in two other members of the same gene family. A substitution conferring TTX resistance to Nav1.7, a channel found in small peripheral neurons, arose in lizards ∼170 million years ago (mya) and was present in the common ancestor of all snakes. A second channel found in larger myelinated neurons, Nav1.6, subsequently evolved resistance in four different snake lineages beginning ∼38 mya. Extreme TTX resistance has evolved at least five times within the past 12 million years via changes in Nav1.4, but only within lineages that previously evolved resistant Nav1.6 and Nav1.7. Our results show that adaptive protein evolution may be contingent upon enabling substitutions elsewhere in the genome, in this case, in paralogs of the same gene family

Expert Clinician Certainty in Diagnosing Autism Spectrum Disorder in 16–30-Month-Olds: A Multi-site Trial Secondary Analysis

Differential diagnosis of young children with suspected autism spectrum disorder (ASD) is challenging, and clinician uncertainty about a child's diagnosis may contribute to misdiagnosis and subsequent delays in access to early treatment. The current study was designed to replicate and expand a recent report in this Journal (McDonnell et al. in J Autism Dev Disord 49:1391-1401, https://doi.org/10.1080/15374416.2020.1823850 , 2019), in which only 60% of diagnoses were made with complete certainty by clinicians evaluating 478 toddlers and preschool children referred for possible ASD to specialized clinics. In this study, secondary analyses were performed on diagnostic, demographic and clinical data for 496 16-30-month-old children who were consecutive referrals to a 6-site clinical trial executed by specialized centers with experienced clinicians following best-practice procedures for the diagnosis of ASD. Overall, 70.2% of diagnoses were made with complete certainty. The most important factor associated with clinician uncertainty was mid-level autism-related symptomatology. Mid-level verbal age equivalents were also associated with clinician uncertainty, but measures of symptomatology were stronger predictors. None of the socio-demographic variables, including sex of the child, was significantly associated with clinician certainty. Close to one third of early diagnoses of ASD are made with a degree of uncertainty. The delineation of specific ranges on the ADOS-2 most likely to result in clinician uncertainty identified in this study may provide an opportunity to reduce random subjectivity in diagnostic decision-making via calibration of young-child diagnostic thresholds based on later-age longitudinal diagnostic outcome data, and via standardization of decision-making in regard to clinical scenarios frequently encountered by clinicians

Boa&Ophisaurus

Annotations of the coding sequences of three voltage-gated sodium channel genes (SCN4A, SCN8A, and SCN9A) from two species (Boa constrictor and Ophisaurus gracilis) in GenBank format

Implementation strategies in the Exploration and Preparation phases of a colorectal cancer screening intervention in community health centers

Abstract Background Adoption of colorectal cancer (CRC) screening has lagged in community health center (CHC) populations in the USA. To address this implementation gap, we developed a multilevel intervention to improve screening in CHCs in our region. We used the Exploration, Preparation, Implementation, Sustainment (EPIS) framework to guide this effort. Here, we describe the use of implementation strategies outlined in the Expert Recommendations for Implementing Change (ERIC) compilation in both the Exploration and Preparation phases of this project. During these two EPIS phases, we aimed to answer three primary questions: (1) What factors in the inner and outer contexts may support or hinder colorectal cancer screening in North Carolina CHCs?; (2) What evidence-based practices (EBPs) best fit the needs of North Carolina CHCs?; and (3) How can we best integrate the selected EBPs into North Carolina CHC systems? Methods During the Exploration phase, we conducted local needs assessments, built a coalition, and conducted local consensus discussions. In the Preparation phase, we formed workgroups corresponding to the intervention’s core functional components. Workgroups used cyclical small tests of change and process mapping to identify implementation barriers and facilitators and to adapt intervention components to fit inner and outer contexts. Results Exploration activities yielded a coalition of stakeholders, including two rural CHCs, who identified barriers and facilitators and reached consensus on two EBPs: mailed FIT and navigation to colonoscopy. Stakeholders further agreed that the delivery of those two EBPs should be centralized to an outreach center. During Preparation, workgroups developed and refined protocols for the following centrally-delivered intervention components: a registry to identify and track eligible patients, a centralized system for mailing at-home stool tests, and a process to navigate patients to colonoscopy after an abnormal stool test. Conclusions This description may be useful both to implementation scientists, who can draw lessons from applied implementation studies such as this to refine their implementation strategy typologies and frameworks, as well as to implementation practitioners seeking exemplars for operationalizing strategies in early phases of implementation in healthcare