Initiating joint attention (IJA), the behavioral instigation of coordinated focus of 2 people on an object, emerges over the first 2 years of life and supports social-communicative functioning ...related to the healthy development of aspects of language, empathy, and theory of mind. Deficits in IJA provide strong early indicators for autism spectrum disorder, and therapies targeting joint attention have shown tremendous promise. However, the brain systems underlying IJA in early childhood are poorly understood, due in part to significant methodological challenges in imaging localized brain function that supports social behaviors during the first 2 years of life. Herein, we show that the functional organization of the brain is intimately related to the emergence of IJA using functional connectivity magnetic resonance imaging and dimensional behavioral assessments in a large semilongitudinal cohort of infants and toddlers. In particular, though functional connections spanning the brain are involved in IJA, the strongest brain-behavior associations cluster within connections between a small subset of functional brain networks; namely between the visual network and dorsal attention network and between the visual network and posterior cingulate aspects of the default mode network. These observations mark the earliest known description of how functional brain systems underlie a burgeoning fundamental social behavior, may help improve the design of targeted therapies for neurodevelopmental disorders, and, more generally, elucidate physiological mechanisms essential to healthy social behavior development.
This study examined parental perceptions of the character traits of children with autism from early childhood to age 11. Parents (n = 153) provided descriptions of the “best things” about their ...children on the Child Behavior Checklist (CBCL) at ages 3–4, 7–8, and 10–11 years. Descriptions were coded using the framework of the Values in Action Classification of Strengths, with additional traits added as needed. Parent-endorsed traits included love, kindness, happiness, and humor in children across all ages and traits such as perseverance as children entered school. Higher CBCL scores were associated with a lower likelihood of endorsement for Humanity traits. Results are congruent with a contemporary neurodiversity perspective that emphasizes strengths and resilience.
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DOBA, EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, IZUM, KILJ, KISLJ, MFDPS, NLZOH, NUK, ODKLJ, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UILJ, UKNU, UL, UM, UPUK, VKSCE, VSZLJ, ZAGLJ
Attention deficit hyperactivity disorder (ADHD) is a common and persistent condition characterized by developmentally atypical and impairing inattention, hyperactivity, and impulsiveness. We ...identified de novo and rare copy number variations (CNVs) in 248 unrelated ADHD patients using million-feature genotyping arrays. We found de novo CNVs in 3 of 173 (1.7%) ADHD patients for whom we had DNA from both parents. These CNVs affected brain-expressed genes: DCLK2, SORCS1, SORCS3, and MACROD2. We also detected rare inherited CNVs in 19 of 248 (7.7%) ADHD probands, which were absent in 2357 controls and which either overlapped previously implicated ADHD loci (for example, DRD5 and 15q13 microduplication) or identified new candidate susceptibility genes (ASTN2, CPLX2, ZBBX, and PTPRN2). Among these de novo and rare inherited CNVs, there were also examples of genes (ASTN2, GABRG1, and CNTN5) previously implicated by rare CNVs in other neurodevelopmental conditions including autism spectrum disorder (ASD). To further explore the overlap of risks in ADHD and ASD, we used the same microarrays to test for rare CNVs in an independent, newly collected cohort of 349 unrelated individuals with a primary diagnosis of ASD. Deletions of the neuronal ASTN2 and the ASTN2-intronic TRIM32 genes yielded the strongest association with ADHD and ASD, but numerous other shared candidate genes (such as CHCHD3, MACROD2, and the 16p11.2 region) were also revealed. Our results provide support for a role for rare CNVs in ADHD risk and reinforce evidence for the existence of common underlying susceptibility genes for ADHD, ASD, and other neuropsychiatric disorders.
The employment rate among persons with autism spectrum disorder has been noted as unacceptably low. Employment-support services are increasingly linked to the potential for favorable job outcomes, ...yet little is known about employment-support practices and the outcome of these interventions. This mixed-methods study examined employment-support resources for persons with autism spectrum disorder. An online survey was completed by 137 senior clinicians or administrators in employment-support programs in Canada. Additionally, 122 follow-up interviews were conducted with individuals with autism spectrum disorder (n = 71) and their parents/caregivers (n = 51). Findings indicate that the quality and beneficial impact of employment-support services for adults with autism spectrum disorder may be more favorably perceived by employment-support personnel than by individuals with autism spectrum disorder and their families. Furthermore, employment-support personnel were more disparaging about autism spectrum disorder vocational support capacity within their community, compared to their own programs. Individuals with autism spectrum disorder and their families seek services that support both accessing and retaining employment. Capacity-building in employment support for youth and adults with autism spectrum disorder is recommended, based on a reported insufficiency of, and a lack of evidence guiding, existing services. Program recommendations and an emerging model for integrated vocational support in autism spectrum disorder are offered.
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NUK, OILJ, SAZU, UKNU, UL, UM, UPUK
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with increasing prevalence worldwide. Early identification of ASD through developmental screening is critical for early intervention ...and improved behavioural outcomes in children. However due to long wait times, delays in diagnosis continue to occur, particularly among minority populations who are faced with existing barriers in access to care. A novel Mobile Developmental Outreach Clinic (M-DOC) was implemented to deliver culturally sensitive screening and assessment practices to increase access to developmental health services, reduce wait times in diagnoses, and aid in equitable access to intervention programs among vulnerable populations in Ontario.
This study applied two evaluation frameworks (process and outcome evaluation) to determine whether the delivery model was implemented as intended, and if the program achieved its targeted goals. A mixed-methods design was undertaken to address the study objectives.
Between September 2018-February 2020, M-DOC reached 227 families with developmental health concerns for their child, while successfully targeting the intended population and achieving its goals. The mean age of the child-in-need at intake was 31.6 months (SD 9.9), and 70% of the sample were male. The program's success was attributed to the use of cultural liaisons to break cultural and linguistic barriers, the creation of multiple points of access into the diagnosis pathway, and delivery of educational workshops in local communities to raise awareness and knowledge of autism spectrum disorder.
The findings underscore the need for community-based intervention programs that focus on cultural barriers to accessing health services. The model of delivery of the M-DOC programs highlights the opportunity for other programs to adopt a similar mobile outreach clinic approach as a means to increase access to services, particularly in targeting hard-to-reach and vulnerable populations.
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CEKLJ, DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Most research regarding youth with autism spectrum disorder has not focused on their first-person perspectives providing limited insight into methodologies best suited to eliciting their voices. We ...conducted a synthesis of methods previously used to obtain the first-person perspectives of youth with various disabilities, which may be applicable to youth with autism spectrum disorder. Two-hundred and eighty-four articles met the inclusion criteria of our scoping review. We identified six distinct primary methods (questionnaires, interviews, group discussion, narratives, diaries, and art) expressed through four communication output modalities (language, sign language and gestures, writing, and images). A group of parents who have children with autism spectrum disorder were then presented with a synthesis of results. This parent consultation was used to build on approaches identified in the literature. Parents identified barriers that may be encountered during participant engagement and provided insights on how best to conduct first-person research with youth with autism spectrum disorder. Based on our findings, we present a novel methodological framework to capture the perspectives of youth with various communication and cognitive abilities, while highlighting family, youth, and expert contributions.
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NUK, OILJ, SAZU, UKNU, UL, UM, UPUK
Background
Children with autism spectrum disorder (ASD) often experience impairments in adaptive behavior.
Methods
Developmental trajectories of adaptive behavior in ASD were examined in children ...from high‐risk (siblings of children diagnosed with ASD, n = 403) and low‐risk (no family history of ASD, n = 163) families. Children were assessed prospectively at 12, 18, 24, and 36 months of age using the Vineland Adaptive Behavior Scales and underwent a blind independent diagnostic assessment for ASD at 36 months of age.
Results
The semi‐parametric group‐based modeling approach using standard scores on the Adaptive Behavior Composite revealed three distinct developmental trajectories: (a) Group 1 (21.2% of sample) showed average performance at 12 months and a declining trajectory; (b) Group 2 (52.8% of the sample) showed average performance at 12 months with a slightly declining trajectory; and (c) Group 3 (26.0% of the sample) showed a higher level of adaptive behavior at 12 months and a stable trajectory. The Mullen Scales of Early Learning Early Learning Composite and the Autism Observation Scale for Infants total score at 6 and 12 months predicted trajectory membership.
Conclusions
The results emphasize heterogeneous development associated with ASD and the need for interventions tailored to individual presentations.
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BFBNIB, DOBA, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, UILJ, UKNU, UL, UM, UPUK
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