A randomised clinical pilot trial to test the effectiveness of parent training with video modelling to improve functioning and symptoms in children with autism spectrum disorders and intellectual disability

Bordini, Daniela; Paula, Cristiane Silvestre de; Cunha, Graccielle R.; Caetano, Sheila C.; Bagaiolo, Leila Felippe; Ribeiro, Tatiane Cristina; Martone, Maria Carolina Côrrea; Portolese, Joana; Moya, Ana Claudia Carvalho; Brunoni, Décio; Bosa, Cleonice Alves; Brentani, Helena; Cogo‐Moreira, Hugo; Mari, Jair de Jesus

doi:10.1111/jir.12759

Cited by 27 publications

(47 citation statements)

References 82 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The presented psychosocial, genetic, and epigenetic data was obtained for the current study from a clinical sample participating in a recently published randomized clinical trial [ 41 ]. There are n = 67 mother and child pairs being considered here, engaged before the trial’s randomization phase.…”

Section: Resultsmentioning

confidence: 99%

“…The sample of the present study was obtained from a Brazilian population that lives in São Paulo city and contained 68 ASD children with blood samples available from a previously published randomized clinical trial of a video modeling parenting training [ 41 ]. One patient that did not complete the Risk Scores questionnaire used to calculate the Risk Scores was excluded from the PCA analysis.…”

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

Environmental Influences Measured by Epigenetic Clock and Vulnerability Components at Birth Impact Clinical ASD Heterogeneity

Reis

Tahira

Gastaldi

et al. 2021

Genes

View full text Add to dashboard Cite

Although Autism Spectrum Disorders (ASD) is recognized as being heavily influenced by genetic factors, the role of epigenetic and environmental factors is still being established. This study aimed to identify ASD vulnerability components based on familial history and intrauterine environmental stress exposure, explore possible vulnerability subgroups, access DNA methylation age acceleration (AA) as a proxy of stress exposure during life, and evaluate the association of ASD vulnerability components and AA to phenotypic severity measures. Principal Component Analysis (PCA) was used to search the vulnerability components from 67 mothers of autistic children. We found that PC1 had a higher correlation with psychosocial stress (maternal stress, maternal education, and social class), and PC2 had a higher correlation with biological factors (psychiatric family history and gestational complications). Comparing the methylome between above and below PC1 average subgroups we found 11,879 statistically significant differentially methylated probes (DMPs, p < 0.05). DMPs CpG sites were enriched in variably methylated regions (VMRs), most showing environmental and genetic influences. Hypermethylated probes presented higher rates in different regulatory regions associated with functional SNPs, indicating that the subgroups may have different affected regulatory regions and their liability to disease explained by common variations. Vulnerability components score moderated by epigenetic clock AA was associated with Vineland Total score (p = 0.0036, adjR2 = 0.31), suggesting risk factors with stress burden can influence ASD phenotype.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Environmental Influences Measured by Epigenetic Clock and Vulnerability Components at Birth Impact Clinical ASD Heterogeneity

Reis

Tahira

Gastaldi

et al. 2021

Genes

View full text Add to dashboard Cite

show abstract

“…We used 2744 (out of 2857, 86% male) probands with no missing data from the Simons Simplex Collection (SSC) sample (version 15.0) from the Simons Foundation Autism Research Initiative (SFARI) database as a clinical reference sample (Fischbach & Lord, 2010). In order to build a case study, we use the baseline data from a recently published study aiming for as much homogeneity as possible: 60 patients (out of 66), 6 to 7 years old, ASD diagnosis, intellectual disability (IQ<75) and low functionality (Bordini et al, 2020). Table S1 and Table S9 describe scales/questionnaires mean and standard deviation scores, relative to the reference and case samples, respectively.…”

Section: Participantsmentioning

confidence: 99%

“…Concerning the SSC database, Full-Scale Deviation IQ data was used whenever available, and alternatively, Full-Scale Ratio IQ was used instead if not. Concerning the Brazilian case study sample, a standardized, age-corrected and Portuguese-validated tool was used (Bordini et al, 2020).…”

Section: Assessment Toolsmentioning

confidence: 99%

See 1 more Smart Citation

A normative model representing autistic individuals amidst Autism Spectrum Disorders phenotypic heterogeneity

Portolese

Gomes

Gastaldi

et al. 2021

Preprint

View full text Add to dashboard Cite

Approaches to deal and understand Autism Spectrum Disorder (ASD) phenotypic heterogeneity, quantitatively and multidimensionally, are in need. Being able to access a specific individual relative to a normative reference ASD sample would provide a severity estimate that takes into account the spectrum variance. We propose such an approach analyzing the principal components of variance observable in a clinical reference sample. Using phenotypic data available in a comprehensive reference sample, the Simons Simplex Collection (n=2744 individuals), we performed Principal Component Analysis (PCA). The PCA considered ASD core-symptoms (accessed by ADI-R), important clinical features (accessed by VABS and CBCL) and IQ. PCA-projected dimensions supported a normative modeling where a multivariate normal distribution was used to calculate percentiles. An additional phenotypically homogeneous sample (ASD, IQ<75, 6-7yr, n=60) is presented as a case study to illustrate the phenotypic heterogeneity assessment and individual placement under the normative modeling approach. Three PCs embedded 72% of the normative sample variance, interpreted based on correlations (>0.50) with clinical features as: Social Functionality (39%), Behavioral Disturbance (18%) and Communication Problems (15%). A Multidimensional Severity Score (MSS) to evaluate new prospective single subjects was developed based on percentiles. Additionally, the disequilibrium among PCA-projected dimensions gave rise to an individualized Imbalance Score (ImS). The approach, named TEAplot, is implemented in user-friendly free software and was illustrated in a homogenous independent sample. Our approach proposes a basis for patient monitoring in clinical practice, guides research sample selection and pushes the field towards personalized precision medicine.Lay SummaryMost families or clinicians already heard the now adage: “If you’ve met one person with autism, you’ve met one person with autism”. The phenotypic heterogeneity presented by the Autism Spectrum Disorders (ASD) is a challenge to research and clinical practice. Here in this work we summon established mathematical tools from the Machine Learning field to help one to organize the principal components of such variability. These mathematical tools were applied to a comprehensive database of autistic individuals’ mensurable profiles (cognitive, emotional, behavioural, and so on) maintained by the Simons Foundation Autism Research Initiative (SFARI). Using this normative model one can quantitatively estimate how a given individual person fits into the whole, as pediatricians often do by evaluating growth charts, a tool we named TEAplot. We made freely available Excel/Libreoffice spreadsheets that calculate our proposed Multidimensional Severity Score in order to effectively engage the research and clinical communities. The TEAplot model is a step towards a personalized precision medicine approach for ASD.

show abstract

Use of allied‐health services and medication among adults with ASD in Latin America

et al. 2021

View full text Add to dashboard Cite

ASD is a neurodevelopmental disorder that affects people across the entire lifespan, yet most of the research identifying the health and medical needs for autistic individuals have been among minors. As individuals with ASD transition to emerging adulthood, the services, already limited, become less available. This study aimed to identify the use of services for Latin American adults on the spectrum. We surveyed 295 caregivers of adults with ASD from six Latin American countries. Comparing the results for all the possible services observed in this study, the adults in our sample were primarily underserved: 84.4%–95.9% were receiving zero hours per week, 3.7%–12.9% 1%–10 h, 0%–1.7% 11–20, and only 0%–1% above 20 h of services. Almost half of the sample used medication, and neurologists were the most consulted health providers. Next to inexistent health care usage in Latin American adults with ASD highlights socioeconomic and health disparities in service provision for ASD in the region. The lack of services places adults with ASD in Latin America at a higher risk of worse symptom severity than autistic adults from regions with broader access to services. Lay Summary This study aimed to identify the quantity of services received by adults with autism in Latin America. Most of our sample was not receiving health services yet almost half had access to medication. This could mean that adults with autism in Latin America are at higher risk for poorer health.

show abstract

A randomised clinical pilot trial to test the effectiveness of parent training with video modelling to improve functioning and symptoms in children with autism spectrum disorders and intellectual disability

Cited by 27 publications

References 82 publications

Environmental Influences Measured by Epigenetic Clock and Vulnerability Components at Birth Impact Clinical ASD Heterogeneity

Environmental Influences Measured by Epigenetic Clock and Vulnerability Components at Birth Impact Clinical ASD Heterogeneity

A normative model representing autistic individuals amidst Autism Spectrum Disorders phenotypic heterogeneity

Use of allied‐health services and medication among adults with ASD in Latin America

Contact Info

Product

Resources

About