Quantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families

Abstract Background Previous studies have demonstrated aggregation of autistic traits in undiagnosed family members of children with autism spectrum disorder (ASD), which has significant implications for ASD risk in their offspring. This study capitalizes upon a large, quantitatively characterized clinical-epidemiologic family sample to establish the extent to which family transmission pattern and sex modulate ASD trait aggregation. Methods Data were analyzed from 5515 siblings (2657 non-ASD and 2858 ASD) included in the Interactive Autism Network. Autism symptom levels were measured using the Social Responsiveness Scale (SRS) and by computing Diagnostic and Statistical Manual of Mental Disorders—Fifth Edition (DSM-5) symptom scores based on items from the SRS and Social Communication Questionnaire. Generalized estimating equation models evaluated the influence of family incidence types (single versus multiple incidence families; male-only ASD-affected families versus families with female ASD-affected children), diagnostic group (non-ASD children with and without a history of language delay with autistic speech and ASD-affected children), and sibling sex on ASD symptom levels. Results Non-ASD children manifested elevated ASD symptom burden when they were members of multiple incidence families—this effect was accentuated for male children in female ASD-containing families—or when they had a history of language delay with autistic qualities of speech. In this sample, ASD-affected children from multiple incidence families had lower symptom levels than their counterparts in single incidence families. Recurrence risk for ASD was higher for children from female ASD-containing families than for children from male-only families. Conclusions Sex and patterns of family transmission modulate the risk of autism symptom burden in undiagnosed siblings of ASD-affected children. Identification of these symptoms/traits and their molecular genetic causes may have significant implications for genetic counseling and for understanding inherited liabilities that confer risk for ASD in successive generations. Autism symptom elevations were more dramatic in non-ASD children from multiple incidence families and those with a history of language delay and autistic qualities of speech, identifying sub-groups at substantially greater transmission risk. Higher symptom burden and greater recurrence in children from female ASD-containing families indicate that familial aggregation patterns are further qualified by sex-specific thresholds, supportive of the notion that females require a higher burden of deleterious liability to cross into categorical ASD diagnosis

Exploring sensory phenotypes in autism spectrum disorder

Background: Atypical reactions to the sensory environment are often reported in autistic individuals, with a high degree of variability across the sensory modalities. These sensory differences have been shown to promote challenging behaviours and distress in autistic individuals and are predictive of other functions including motor, social, and cognitive abilities. Preliminary research suggests that specific sensory differences may cluster together within individuals creating discrete sensory phenotypes. However, the manner in which these sensory differences cluster, and whether the resulting phenotypes are associated with specific cognitive and social challenges is unclear. Methods: Short sensory profile data from 599 autistic children and adults between the ages of 1 and 21 years were subjected to a K-means cluster analysis. Analysis of variances compared age, adaptive behaviour, and traits associated with autism, attention-deficit and hyperactivity disorder, and obsessive and compulsive disorder across the resultant clusters. Results: A five-cluster model was found to minimize error variance and produce five sensory phenotypes: (1) sensory adaptive, (2) generalized sensory differences, (3) taste and smell sensitivity, (4) under-responsive and sensation seeking, and (5) movement difficulties with low energy. Age, adaptive behaviour, and traits associated with autism, attention-deficit and hyperactivity disorder, and obsessive and compulsive disorder were found to differ significantly across the five phenotypes. Limitations: The results were based on parent-report measures of sensory processing, adaptive behaviour, traits associated with autism, attention-deficit and hyperactivity disorder, and obsessive and compulsive disorder, which may limit the generalizability of the findings. Further, not all measures are standardized, or psychometrically validated with an autism population. Autistic individuals with an intellectual disability were underrepresented in this sample. Further, as these data were obtained from established records from a large provincial database, not all measures were completed for all individuals. Conclusions: These findings suggest that sensory difficulties in autistic individuals can be clustered into sensory phenotypes, and that these phenotypes are associated with behavioural differences. Given the large degree of heterogeneity in sensory difficulties seen in the autistic population, these sensory phenotypes represent an effective way to parse that heterogeneity and create phenotypes that may aid in the development of effective treatments and interventions for sensory difficulties

Changes in the Prevalence of Child and Youth Mental Disorders and Perceived Need for Professional Help between 1983 and 2014: Evidence from the Ontario Child Health Study

Objectives: To examine: 1) changes in the prevalence of mental disorders and perceived need for professional help among children (ages 4 to 11) and youth (ages 12 to 16) between 1983 and 2014 in Ontario and 2) whether these changes vary by age and sex, urban-rural residency, poverty, lone-parent status, and immigrant background. Methods: The 1983 (n = 2836) and 2014 (n = 5785) Ontario Child Health Studies are provincially representative cross-sectional surveys with identical self-report checklist measures of conduct disorder, hyperactivity, and emotional disorder, as well as perceived need for professional help, assessed by integrating parent and teacher responses (ages 4 to 11) and parent and youth responses (ages 12 to 16). Results: The overall prevalence of perceived need for professional help increased from 6.8% to 18.9% among 4- to 16-year-olds. An increase in any disorder among children (15.4% to 19.6%) was attributable to increases in hyperactivity among males (8.9% to 15.7%). Although the prevalence of any disorder did not change among youth, conduct disorder decreased (7.2% to 2.5%) while emotional disorder increased (9.2% to 13.2%). The prevalence of any disorder increased more in rural and small to medium urban areas versus large urban areas. The prevalence of any disorder decreased for children and youth in immigrant but not nonimmigrant families. Conclusions: Although there have been decreases in the prevalence of conduct disorder, increases in other mental disorders and perceived need for professional help underscore the continued need for effective prevention and intervention programs

Children’s Mental Health Need and Expenditures in Ontario: Findings from the 2014 Ontario Child Health Study

Objective: To estimate the alignment between the Ontario Ministry of Children and Youth Services (MCYS) expenditures for children’s mental health services and population need, and to quantify the value of adjusting for need in addition to population size in formula-based expenditure allocations. Two need definitions are used: “assessed need,” as the presence of a mental disorder, and “perceived need,” as the subjective perception of a mental health problem. Methods: Children’s mental health need and service contact estimates (from the 2014 Ontario Child Health Study), expenditure data (from government administrative data), and population counts (from the 2011 Canadian Census) were combined to generate formula-based expenditure allocations based on 1) population size and 2) need (population size adjusted for levels of need). Allocations were compared at the service area and region level and for the 2 need definitions (assessed and perceived). Results: Comparisons were made for 13 of 33 MCYS service areas and all 5 regions. The percentage of MCYS expenditure reallocation needed to achieve an allocation based on assessed need was 25.5% at the service area level and 25.6% at the region level. Based on perceived need, these amounts were 19.4% and 27.2%, respectively. The value of needs-adjustment ranged from 8.0% to 22.7% of total expenditures, depending on the definition of need. Conclusion: Making needs adjustments to population counts using population estimates of children’s mental health need (assessed or perceived) provides additional value for informing and evaluating allocation decisions. This study provides much-needed and current information about the match between expenditures and children’s mental health need

Children’s Mental Health Need and Expenditures in Ontario: Findings from the 2014 Ontario Child Health Study

Objective: To estimate the alignment between the Ontario Ministry of Children and Youth Services (MCYS) expenditures for children’s mental health services and population need, and to quantify the value of adjusting for need in addition to population size in formula-based expenditure allocations. Two need definitions are used: “assessed need,” as the presence of a mental disorder, and “perceived need,” as the subjective perception of a mental health problem. Methods: Children’s mental health need and service contact estimates (from the 2014 Ontario Child Health Study), expenditure data (from government administrative data), and population counts (from the 2011 Canadian Census) were combined to generate formula-based expenditure allocations based on 1) population size and 2) need (population size adjusted for levels of need). Allocations were compared at the service area and region level and for the 2 need definitions (assessed and perceived). Results: Comparisons were made for 13 of 33 MCYS service areas and all 5 regions. The percentage of MCYS expenditure reallocation needed to achieve an allocation based on assessed need was 25.5% at the service area level and 25.6% at the region level. Based on perceived need, these amounts were 19.4% and 27.2%, respectively. The value of needs-adjustment ranged from 8.0% to 22.7% of total expenditures, depending on the definition of need. Conclusion: Making needs adjustments to population counts using population estimates of children’s mental health need (assessed or perceived) provides additional value for informing and evaluating allocation decisions. This study provides much-needed and current information about the match between expenditures and children’s mental health need

Poverty, Neighbourhood Antisocial Behaviour, and Children’s Mental Health Problems: Findings from the 2014 Ontario Child Health Study

Objectives: To determine if levels of neighbourhood poverty and neighbourhood antisocial behaviour modify associations between household poverty and child and youth mental health problems. Methods: Data come from the 2014 Ontario Child Health Study—a provincially representative survey of 6537 families with 10,802 four- to 17-year-olds. Multivariate multilevel modelling was used to test if neighbourhood poverty and antisocial behaviour interact with household poverty to modify associations with children’s externalizing and internalizing problems based on parent assessments of children (4- to 17-year-olds) and self-assessments of youth (12- to 17-year-olds). Results: Based on parent assessments, neighbourhood poverty, and antisocial behaviour modified associations between household poverty and children’s mental health problems. Among children living in households below the poverty line, levels of mental health problems were 1) lower when living in neighbourhoods with higher concentrations of poverty and 2) higher when living in neighbourhoods with more antisocial behaviour. These associations were stronger for externalizing versus internalizing problems when conditional on antisocial behaviour and generalized only to youth-assessed externalizing problems. Conclusion: The lower levels of externalizing problems reported among children living in poor households in low-income neighbourhoods identify potential challenges with integrating poorer households into more affluent neighbourhoods. More important, children living in poor households located in neighbourhoods exhibiting more antisocial behaviour are at dramatically higher risk for mental health problems. Reducing levels of neighbourhood antisocial behaviour could have large mental health benefits, particularly among poor children

The 2014 Ontario Child Health Study—Methodology

Objective: To describe the methodology of the 2014 Ontario Child Health Study (OCHS): a province-wide, cross-sectional, epidemiologic study of child health and mental disorder among 4- to 17-year-olds living in household dwellings. Method: Implemented by Statistics Canada, the 2014 OCHS was led by academic researchers at the Offord Centre for Child Studies (McMaster University). Eligible households included families with children aged 4 to 17 years, who were listed on the 2014 Canadian Child Tax Benefit File. The survey design included area and household stratification by income and 3-stage cluster sampling of areas and households to yield a probability sample of families. Results: The 2014 OCHS included 6,537 responding households (50.8%) with 10,802 children aged 4 to 17 years. Lower income families living in low-income neighbourhoods were less likely to participate. In addition to measures of childhood mental disorder assessed by the Mini International Neuropsychiatric Interview for Children and Adolescents (MINI-KID) and OCHS Emotional Behavioural Scales (OCHS-EBS), the survey contains measures of neighbourhoods, schools, families and children, and includes administrative data held by the Ministries of Education and Health and Long-Term Care. Conclusions: The complex survey design and differential non-response of the 2014 OCHS required the use of sampling weights and adjustment for design effects. The study is available throughout Canada in the Statistics Canada Research Data Centres (RDCs). We urge external investigators to access the study through the RDCs or to contact us directly to collaborate on future secondary analysis studies based on the OCHS