Implementing standard screening for autism spectrum disorder in CHD

2020 ◽  
Vol 30 (8) ◽  
pp. 1118-1125
Author(s):  
Alexander Tan ◽  
Eric S. Semmel ◽  
Ian Wolf ◽  
Bailee Hammett ◽  
Dawn Ilardi

AbstractIntroduction:While the overall prevalence of autism is 1.7% in the United States of America, research has demonstrated a two- to five-fold increase in CHD. The Cardiac Neurodevelopmental Outcome Collaborative recommends screening for autism from infancy through adolescence. This study investigated the frequency of autism concerns at a single Cardiac Neurodevelopmental Program and examined current clinical practice as a way to improve quality of care.Materials and methods:Patients (n = 134; mean age = 9.0 years) included children with high-risk CHD who completed a neurodevelopmental evaluation following a formalised referral to the Cardiac Neurodevelopmental Program between 2018 and 2019. Retrospective chart review included parent report on the Behaviour Assessment System for Children-3 and Adaptive Behaviour Assessment System-3. Descriptive and correlation analyses were completed.Results:In this sample, 11.2% presented with autism-related concerns at referral, 2 were diagnosed with autism, 9 were referred to an autism specialist (6 confirmed diagnosis; 3 not completed). Thus, at least 5.9% of the sample were diagnosed with autism following thorough clinical evaluation. Analyses showed atypicality, along with deficient adaptability, leisure, social, and communication skills. Frequency of early intervention, school supports, and relation with comorbidities are reported.Discussion:Prior to assessment recommendations by the Cardiac Neurodevelopmental Outcome Collaborative, autism screening may not be completed systematically in clinical care for CHD. The current sample demonstrates a high frequency of autism in the typically referred clinical sample. Commonly used parent-report measures may reveal concerns but will not help diagnosis. Systematic use of an autism screener is essential.

2021 ◽  
pp. 1-3
Author(s):  
Erica Sood ◽  
Jeffrey P Jacobs ◽  
Bradley S Marino

Abstract Neurodevelopmental and psychosocial impairments negatively impact health-related quality of life for survivors with CHD and complicate the transition to independent adulthood. Risk for neurodevelopmental and psychosocial impairments is influenced by a complex interplay among genetic, foetal, surgical, perioperative, family, and social factors, requiring a multi-pronged approach to neuroprotection and intervention. To ensure future research can ultimately reduce the burden of CHD for individuals, families, and society, the most pressing issues in cardiac neurodevelopment requiring scientific investigation must be identified. Through funding from an R13 Grant from the National Heart, Lung, and Blood Institute of the National Institutes of Health of the United States of America, the Cardiac Neurodevelopmental Outcome Collaborative convened a two-day meeting of international experts in cardiac neurodevelopmental and psychosocial research, clinical care, and health disparities, including patient and family stakeholders, to define the cardiac neurodevelopmental and psychosocial outcomes research agenda for the next decade. Seven multidisciplinary working groups were formed to address key domains crucial to the advancement of cardiac neurodevelopmental and psychosocial outcomes research: 1) Foetal Brain Development and Neuroprotection, 2) Surgical/Perioperative Neuroprotection and Neurodevelopment, 3) Characterization of Neurodevelopmental and Psychological Outcomes, 4) Neurodevelopmental and Psychosocial Intervention, 5) Parent Mental Health and Family Functioning, 6) Neurodevelopmental Education, Outreach and Advocacy, and 7) Health Disparities and Neurodevelopmental Outcomes. Working groups identified significant gaps in knowledge and critical questions that must be answered to further knowledge, policy, care, and outcomes. The development of a research agenda in cardiac neurodevelopmental and psychosocial outcomes is critical for informing collaborative initiatives and allocation of funding for research to scientific inquiries of highest value to key stakeholders.


2021 ◽  
Vol 7 (1) ◽  
pp. e551
Author(s):  
Jennifer M. Bain ◽  
Olivia Thornburg ◽  
Cheryl Pan ◽  
Donnielle Rome-Martin ◽  
Lia Boyle ◽  
...  

ObjectiveTo expand the clinical phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder in 33 individuals.MethodsParticipants were diagnosed with pathogenic or likely pathogenic variants in HNRNPH2 using American College of Medical Genetics and Genomics/Association of Molecular Pathology criteria, largely identified via clinical exome sequencing. Genetic reports were reviewed. Clinical data were collected by retrospective chart review and caregiver report including standardized parent report measures.ResultsWe expand our clinical characterization of HNRNPH2-related disorders to include 33 individuals, aged 2–38 years, both females and males, with 11 different de novo missense variants, most within the nuclear localization signal. The major features of the phenotype include developmental delay/intellectual disability, severe language impairment, motor problems, growth, and musculoskeletal disturbances. Minor features include dysmorphic features, epilepsy, neuropsychiatric diagnoses such as autism spectrum disorder, and cortical visual impairment. Although rare, we report early stroke and premature death with this condition.ConclusionsThe spectrum of X-linked HNRNPH2-related disorders continues to expand as the allelic spectrum and identification of affected males increases.


2021 ◽  
Author(s):  
Nichole Scheerer ◽  
Kristina Curcin ◽  
Bobby Stojanoski ◽  
Evdokia Anagnostou ◽  
Robert Nicolson ◽  
...  

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, with downstream effects on 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. Short Sensory Profile data from 599 autistic children between the ages of 1 and 21 years were subjected to a K-means cluster analysis. A five-cluster model was found to minimize error variance and produce five meaningful 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, autistic symptomatology, attention deficits and hyperactivity, and obsessive and compulsive traits were found to differ significantly across the five phenotypes. These findings suggest that sensory difficulties in autistic individuals can be clustered into meaningful 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 a meaningful way to parse that heterogeneity and create meaningful phenotypes that may aid in the development of effective treatments and interventions for sensory difficulties. However, the results were based on parent-report measures of sensory processing, adaptive behaviour, autistic symptomatology, attention deficits and hyperactivity, and obsessive and compulsive traits, which may limit the generalizability of the findings.


2020 ◽  
Vol 35 (6) ◽  
pp. 965-965
Author(s):  
Lace J ◽  
Seitz D ◽  
Kennedy E ◽  
Austin T ◽  
Ferguson B ◽  
...  

Abstract Objective The parent-report Behavior Rating Inventory of Executive Function, Second Edition (BRIEF-2) is a widely used measure in pediatric clinical neuropsychology. Unfortunately, despite notable changes from its predecessor, few studies to date have examined its internal factor structure (comprised of Behavioral Regulation [BRI], Emotion Regulation [ERI], and Cognitive Regulation [CRI]). Thus, this study sought to investigate the dimensionality of the parent-report BRIEF-2 in a mixed clinical sample. Method Two hundred two (202) outpatient pediatric neuropsychology examinees (M age = 9.90; 68% males; 53.5% with diagnosis of autism spectrum disorder) with complete data for the parent-report BRIEF-2 were extracted from an archival dataset. The sample was randomly split for confirmatory and exploratory factor analyses (CFA and EFA; ns = 101). Results Descriptive results revealed elevated scores across BRIEF-2 scales (Global Executive Composite M T = 70.16). CFA revealed that the theoretical three-factor model described by the BRIEF-2’s authors provided generally poor fit (root mean square error of approximation [RMSEA] = .12). Also, the three-factor model did not provide statistically significantly nor relatively better fit than a simpler two-factor model (RMSEA = .12), which merged BRI and ERI (consistent with the original BRIEF), identified via EFA. Conclusion(s) A two-factor structure (CRI and BRI/ERI) for the BRIEF-2 may be a more parsimonious and preferred model compared to the theoretical three-factor model in heavily neurodevelopmental clinical samples with high levels of reported executive dysfunction. Implications of these findings in context of previous literature, limitations of the present study, and appropriate directions for future inquiry are noted.


2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Nichole E. Scheerer ◽  
Kristina Curcin ◽  
Bobby Stojanoski ◽  
Evdokia Anagnostou ◽  
Rob Nicolson ◽  
...  

Abstract 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.


2017 ◽  
Vol 36 (6) ◽  
pp. 535-551 ◽  
Author(s):  
Lauren M. Gardner ◽  
Jonathan M. Campbell ◽  
Andrew J. Bush ◽  
Laura Murphy

We contrasted Behavior Assessment System for Children, Second Edition–Parent Rating Scales–Preschool Form (BASC-2 PRS-P) parent ratings for 242 (52% African American; 39% White) preschool-aged children from three diagnostic groups: autism spectrum disorder (ASD), intellectual disability (ID), and ASD and ID (ASD/ID). Across diagnostic groups, atypical behavior, attention, and adaptive functioning were rated as problematic; Developmental Social Disorders (DSD) scores were elevated across diagnostic groups and did not differ. Several BASC-2 clinical and adaptive scales differed across diagnostic groups, with parent-rated aggression higher for the ID group, parent-rated social withdrawal higher for the ASD group, and parent-rated social skills lower for the ASD/ID group. No differences in BASC-2 scores were found across African American and White preschoolers. The BASC-2 identified problem areas in a preschool clinical sample that were consistent with those of preschoolers with developmental disabilities. However, findings did not support use of the DSD as an ASD-specific screening measure.


Encyclopedia ◽  
2021 ◽  
Vol 1 (2) ◽  
pp. 472-481
Author(s):  
Nasim Aghili ◽  
Mehdi Amirkhani

Green buildings refer to buildings that decrease adverse environmental effects and maintain natural resources. They can diminish energy consumption, greenhouse gas emissions, the usage of non-renewable materials, water consumption, and waste generation while improving occupants’ health and well-being. As such, several rating tools and benchmarks have been developed worldwide to assess green building performance (GBP), including the Building Research Establishment Environmental Assessment Method (BREEAM) in the United Kingdom, German Sustainable Building Council (DGNB), Leadership in Energy and Environmental Design (LEED) in the United States and Canada, Comprehensive Assessment System for Built Environment Efficiency (CASBEE) in Japan, Green Star in Australia, Green Mark in Singapore, and Green Building Index in Malaysia. Energy management (EM) during building operation could also improve GBP. One of the best approaches to evaluating the impact of EM on GBP is by using structural equation modelling (SEM). SEM is a commanding statistical method to model testing. One of the most used SEM variance-based approaches is partial least squares (PLS), which can be implemented in the SmartPLS application. PLS-SEM uses path coefficients to determine the strength and significance of the hypothesised relationships between the latent constructs.


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