Specialized multidisciplinary supports are important for long-term outcomes for autistic youth. Although family and child factors predict service utilization in autism, little is known with respect to youth with rare, autism-associated genetic variants, who frequently have increased psychiatric, developmental, and behavioral needs. We investigate the impact of family factors on service utilization to determine whether caregiver (autistic features, education, income) and child (autistic features, sex, age, IQ, co-occurring conditions) factors predicted service type (e.g., speech, occupational, behavioral) and intensity (hours/year) among children with autism-associated variants (N = 125), some of whom also had a confirmed ASD diagnosis. Analyses revealed variability in the types of services used across a range of child demographic, behavioral, and mental health characteristics. Speech therapy was the most received service (87.2%). Importantly, behavior therapy was the least received service and post-hoc analyses revealed that use of this therapy was uniquely predicted by ASD diagnosis. However, once children received a particular service, there was largely comparable intensity of services, independent of caregiver and child factors. Findings suggest that demographic and clinical factors impact families' ability to obtain services, with less impact on the intensity of services received. The low receipt of therapies that specifically address core support needs in autism (i.e., behavior therapy) indicates more research is needed on the availability of these services for youth with autism-associated variants, particularly for those who do not meet criteria for an ASD diagnosis but do demonstrate elevated and impactful child autistic features as compared to the general population.
BACKGROUND: Neurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of inherited and de novo genetic differences, with marked physiological and behavioral impacts. We currently know little about the psychiatric phenotypes of rare genetic variants associated with ASD, despite heightened risk of psychiatric concerns in ASD more broadly. Understanding behavioral features of these variants can identify shared versus specific phenotypes across gene groups, facilitate mechanistic models, and provide prognostic insights to inform clinical practice. In this paper, we evaluate behavioral features within three gene groups associated with ID and ASD - ADNP, CHD8, and DYRK1A - with two aims: (1) characterize phenotypes across behavioral domains of anxiety, depression, ADHD, and challenging behavior; and (2) understand whether age and early developmental milestones are associated with later mental health outcomes. METHODS: Phenotypic data were obtained for youth with disruptive variants in ADNP, CHD8, or DYRK1A (N = 65, mean age = 8.7 years, 40% female) within a long-running, genetics-first study. Standardized caregiver-report measures of mental health features (anxiety, depression, attention-deficit/hyperactivity, oppositional behavior) and developmental history were extracted and analyzed for effects of gene group, age, and early developmental milestones on mental health features. RESULTS: Patterns of mental health features varied by group, with anxiety most prominent for CHD8, oppositional features overrepresented among ADNP, and attentional and depressive features most prominent for DYRK1A. For the full sample, age was positively associated with anxiety features, such that elevations in anxiety relative to same-age and same-sex peers may worsen with increasing age. Predictive utility of early developmental milestones was limited, with evidence of early language delays predicting greater difficulties across behavioral domains only for the CHD8 group. CONCLUSIONS: Despite shared associations with autism and intellectual disability, disruptive variants in ADNP, CHD8, and DYRK1A may yield variable psychiatric phenotypes among children and adolescents. With replication in larger samples over time, efforts such as these may contribute to improved clinical care for affected children and adolescents, allow for earlier identification of emerging mental health difficulties, and promote early intervention to alleviate concerns and improve quality of life.
Autism Spectrum Disorder , Intellectual Disability , Neurodevelopmental Disorders , Adolescent , Child , Female , Humans , Male , Autism Spectrum Disorder/complications , DNA-Binding Proteins/genetics , Homeodomain Proteins/genetics , Intellectual Disability/genetics , Intellectual Disability/complications , Mental Health , Nerve Tissue Proteins/genetics , Neurodevelopmental Disorders/genetics , Neurodevelopmental Disorders/complications , Quality of Life , Transcription Factors/genetics
Introduction: Autistic students have limited access to inclusive classes and activities in their schools. Principals and special education teachers who directly teach and administer programs for autistic elementary students can offer critical insight into factors, such as educators' attitudes, that may impact inclusive opportunities in schools. These attitudes may serve as barriers to or facilitators of promoting an inclusive school setting. Methods: Semi-structured interviews with 26 elementary school principals and 26 special education teachers explored their experiences implementing evidence-based practices for autistic students (pivotal response training, discrete trial training, and visual schedules) in 26 self-contained classrooms in the United States. Autism-specific culture and inclusion emerged as a theme, which was analyzed for this paper. Results: An inductive approach to thematic analysis revealed principals' and special education teachers' perspectives regarding the "autism-specific culture" in the school, including attitudes towards and inclusion of autistic students in self-contained classrooms in the broader school environment. Analysis of text related to "autism-specific culture" detailed aspects of inclusion, factors (i.e., barriers and facilitators) affecting inclusion, principals' and special education teachers' attitudes towards autistic students placed in self-contained classrooms, attitudes of other school staff towards teachers in self-contained classrooms, and recommendations to support an inclusive school environment for autistic students. Discussion: Results suggest that valuing "equal" access to classes and activities for autistic students in self-contained classrooms may not be sufficient for promoting an inclusive school environment, Educators may benefit from targeted strategies to facilitate inclusion. Strategies range from supporting educators' attitudes and knowledge of autism to shifting physical aspects of the school environment (e.g., location of classrooms). Additional implications for supporting the true inclusion (i.e., inclusion that goes beyond physical inclusion) involves of autistic students in self-contained classrooms schools are discussed.
