No abstract

The substantial phenotypic heterogeneity in autism limits our understanding of its genetic etiology. To address this gap, here we investigated genetic differences between autistic individuals (nmax = 12,893) based on core and associated features of autism, co-occurring developmental disabilities and sex. We conducted a comprehensive factor analysis of core autism features in autistic individuals and identified six factors. Common genetic variants were associated with the core factors, but de novo variants were not. We found that higher autism polygenic scores (PGS) were associated with lower likelihood of co-occurring developmental disabilities in autistic individuals. Furthermore, in autistic individuals without co-occurring intellectual disability (ID), autism PGS are overinherited by autistic females compared to males. Finally, we observed higher SNP heritability for autistic males and for autistic individuals without ID. Deeper phenotypic characterization will be critical in determining how the complex underlying genetics shape cognition, behavior and co-occurring conditions in autism.

Mentalising, also known as 'Theory of Mind', is the ability to understand and infer the cognitions of others, such as their perceptions, intentions, and beliefs. Although several tools have been designed to measure mentalising in adults, there exist methodological and practical limitations. Many of the existing measures conflate mentalising with similar constructs (e.g., empathy), and most are lengthy measures that are unsuitable for large population-based studies and clinical practice. These issues are currently hampering clinical and non-clinical investigations into mentalising and related social-cognitive abilities. Drawing on questionnaire measures of social cognition, we conceived a self-report mentalising scale, the Four-Item Mentalising Index (FIMI; Studies 1a & b). The FIMI was developed through a series of studies examining its factor structure and reliability (Studies 2a & b) and by testing its construct validity against a cognitive mentalising task, autistic traits, and comparing scores in autistic and non-autistic people (Studies 3a & b). Together, we demonstrate that the FIMI is a conceptually and methodologically robust tool for measuring mentalising ability in the general population, including autistic and non-autistic people. Future research directions and practical (clinical) applications of the scale are discussed, with a focus on improving understanding and management of (a)typical mentalising ability.

Formula marketing appears to decrease mothers' confidence in their ability to breastfeed, especially when provided by health care practitioners and institutions. Therefore, to be supportive of breastfeeding, perinatal educators and practitioners could be more effective if they did not offer infant formula advertising to mothers.

A range of recommendations including the need to increase CD awareness and education and further research on the impacts of living with the disease are made.

BackgroundThe Ten Steps to Successful Breastfeeding are maternity practices proven to support successful achievement of exclusive breastfeeding. They also are the basis for the WHO/UNICEF Baby-Friendly Hospital Initiative (BFHI). This study explores implementation of these steps in hospitals that serve predominantly low wealth populations.MethodsA quasi-experimental design with mixed methods for data collection and analysis was included within an intervention project. We compared the impact of a modified Ten Steps implementation approach to a control group. The intervention was carried out in hospitals where: 1) BFHI designation was not necessarily under consideration, and 2) the majority of the patient population was low wealth, i.e., eligible for Medicaid. Hospitals in the research aspect of this project were systematically assigned to one of two groups: Initial Intervention or Initial Control/Later Intervention. This paper includes analyses from the baseline data collection, which consisted of an eSurvey (i.e., Carolina B-KAP), Maternity Practices in Infant Nutrition and Care survey tool (mPINC), the BFHI Self-Appraisal, key informant interviews, breastfeeding data, and formatted feedback discussion.ResultsComparability was ensured by statistical and non-parametric tests of baseline characteristics of the two groups. Additional findings of interest included: 1) a universal lack of consistent breastfeeding records and statistics for regular monitoring/review, 2) widespread misinterpretation of associated terminology, 3) health care providers’ reported practices not necessarily reflective of their knowledge and attitudes, and 4) specific steps were found to be associated with hospital breastfeeding rates. A comprehensive set of facilitators and obstacles to initiation of the Ten Steps emerged, and hospital-specific practice change challenges were identified.DiscussionThis is one of the first studies to examine introduction of the Ten Steps in multiple hospitals with a control group and in hospitals that were not necessarily interested in BFHI designation, where the population served is predominantly low wealth, and with the use of a mixed methods approach. Limitations including numbers of hospitals and inability to adhere to all elements of the design are discussed.ConclusionsFor improvements in quality of care for breastfeeding dyads, innovative and site-specific intervention modification must be considered.

The 10-item Autism-Spectrum Quotient (AQ10) is a self-report questionnaire used in clinical and research settings as a diagnostic screening tool for autism in adults. The AQ10 is also increasingly being used to quantify trait autism along a unitary dimension and correlated against performance on other psychological/medical tasks. However, its psychometric properties have yet to be examined when used in this way. By analysing AQ10 data from a large non-clinical sample of adults (n = 6,595), we found that the AQ10 does not have a unifactorial factor structure, and instead appears to have several factors. The AQ10 also had poor internal reliability. Taken together, whilst the AQ10 has important clinical utility in screening for diagnosable autism, it may not be a psychometrically robust measure when administered in non-clinical samples from the general population. Therefore, we caution against its use as a measure of trait autism in future research.

Background: Previous research using the Sensory Perception Quotient (SPQ) has reported greater sensory hypersensitivity in people with autism spectrum condition (ASC) compared to controls, consistent with other research. However, current scoring of the SPQ does not differentiate between hyper and hyposensitivity, making it uncertain whether individuals with ASC might also show differences in hyposensitivity. Furthermore, no research to date has focused on sensory differences in females, and whether differences in sensory sensitivity extend to the broader autism phenotype (BAP). The present study aimed to fill these gaps. Methods: The present study developed and validated a Revised Scoring of the Sensory Perception Quotient (SPQ-RS) in order to investigate self-reported hypersensitivity and hyposensitivity in three groups of adults: a female ASC group (n = 152), mothers of children with ASC (BAP mothers group; n = 103), and a control mothers group (n = 74). All participants completed the SPQ as a self-report measure of sensory processing and the Autism-Spectrum Quotient (AQ) as a measure of the degree of autism traits. Results: The female ASC group reported significantly more hypersensitivity, but not more hyposensitivity, compared to the control female and BAP mothers groups. The BAP mothers group did not differ from the control mothers group in either reported hypersensitivity (p = .365) or hyposensitivity (p = .075), suggesting atypical sensory sensitivity is not a BAP trait within females. SPQ-RS hypersensitivity scores positively correlated with autistic traits in the female ASC (r = .266) and BAP mothers groups (r = .350). Conclusions: The present findings revealed greater sensory hypersensitivity, but not hyposensitivity, in females with ASC compared to BAP and control female groups, and that a greater degree of autism traits relates to higher hypersensitivity in ASC females. The results offer support for the enhanced perceptual functioning model using large samples of females, who are an understudied population, and demonstrate the validity of the SPQ-RS as a valuable new research tool for exploring self-reported hypersensitivity and hyposensitivity.