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Article
Open AccessProfiles of autism characteristics in thirteen genetic syndromes: a machine learning approach
Phenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual disability (ID), leading to diagnostic uncertainty and compromised access to a...
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Article
Open AccessBridging the research-management gap: landscape science in practice on public lands in the western United States
Landscape science relies on foundational concepts of landscape ecology and seeks to understand the physical, biological, and human components of ecosystems to support land management decision-making. Incorpora...
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Article
Open AccessPersistence and predictors of self-injurious behaviour in autism: a ten-year prospective cohort study
Self-injurious behaviours, such as head banging, hair pulling, skin picking and scratching, are common in individuals with autism. Despite high prevalence rates, there is a paucity of longitudinal research to ...
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Article
A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes
Unique socio-behavioural phenotypes are reported for individuals with different neurodevelopmental disorders. Here, the effects of adult familiarity and nature of interaction on social anxiety and social motiv...
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Article
Open AccessLifespan trajectory of affect in Cornelia de Lange syndrome: towards a neurobiological hypothesis
Depressive symptomology and low affect are comparatively common in individuals with genetic disorders such as Cornelia de Lange syndrome. However, lifespan trajectories and associated person characteristics ha...
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Article
Open AccessProspective study of autism phenomenology and the behavioural phenotype of Phelan–McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder
The limited behavioural phenotype literature on Phelan–McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD...
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Article
Open AccessAn experimental study of executive function and social impairment in Cornelia de Lange syndrome
Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented. In thi...
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Article
Open AccessExecutive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance
The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment.
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Article
Open AccessPersistence of self-injurious behaviour in autism spectrum disorder over 3 years: a prospective cohort study of risk markers
There are few studies documenting the persistence of self-injury in individuals with autism spectrum disorder (ASD) and consequently limited data on behavioural and demographic characteristics associated with ...
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Article
Open AccessImpact of a decision aid on reducing uncertainty: pilot study of women in their 40s and screening mammography
In 2009 the United States Preventive Services Task Force updated its breast cancer screening guidelines to recommend that average-risk women obtain a screening mammogram every two years starting at age 50 inst...
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Article
Repetitive Behavior in Rubinstein–Taybi Syndrome: Parallels with Autism Spectrum Phenomenology
Syndrome specific repetitive behavior profiles have been described previously. A detailed profile is absent for Rubinstein–Taybi syndrome (RTS). The Repetitive Behaviour Questionnaire and Social Communication ...
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Article
Randomized Controlled Trial of Health Maintenance Reminders Provided Directly to Patients Through an Electronic PHR
Provider and patient reminders can be effective in increasing rates of preventive screenings and vaccinations. However, the effect of patient-directed electronic reminders is understudied.
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Autologous Fat Transfer for HIV-Associated Facial Lipodystrophy
HIV-associated lipodystrophy is a stigmatising condition characterised by abnormal body fat distribution in HIV-infected individuals. Treatment of facial lipoatrophy, the most common clinical feature, with aut...
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Article
Space to Learn and Grow: Assessing the Capacity of a Regional Early Care and Education System
As communities across the United States work to meet the early care and education needs of young children, more research is needed to inform decision making at many levels. One key dimension of this is having ...
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Article
Interstitial fluid pressure in breast cancer, benign breast conditions, and breast parenchyma
Background: Interstitial fluid pressure (IFP) in rodent malignant tumors is reportedly much higher than in surrounding normal tissue. We hypothesized the same may be true in human invasive breast tumors.
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Article
Ethnicity and hazard information dissemination
Citizens from two communities were questioned regarding the sources from which they have previously obtained information about environmental hazards and their preferences for different communication channels. ...
