Anne Edwards
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View article: DNA Quantification in Ecklonia maxima seaweed extracts
DNA Quantification in Ecklonia maxima seaweed extracts Open
DNA quantification is essential for product identification, quality assessment, and concentration verification in seaweed extracts. With numerous extracts making varied claims, this study investigates whether DNA analysis could serve as a …
View article: Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions
Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions Open
Angelman syndrome (AS) and duplication 15q (dup15q) syndrome are rare neurogenetic conditions arising from a common locus on the long arm of chromosome 15. Individuals with both conditions share some clinical features (e.g. intellectual di…
View article: Pilot protocol for the Parent and Infant Inter (X)action Intervention (PIXI) feasibility study
Pilot protocol for the Parent and Infant Inter (X)action Intervention (PIXI) feasibility study Open
This paper provides the detailed protocol for a pilot study testing the feasibility, acceptability, and initial efficacy of a targeted two-phase, remotely delivered early intervention program for infants with neurogenetic conditions (NGC) …
View article: Research Gaps in Fragile X Syndrome: An Updated Literature Review to Inform Clinical and Public Health Practice
Research Gaps in Fragile X Syndrome: An Updated Literature Review to Inform Clinical and Public Health Practice Open
Objective: The phenotypic impact of fragile X syndrome (FXS) has been well-documented since the discovery of the fragile X messenger ribonucleoprotein 1 gene 30 years ago. However, gaps remain in clinical and public health research. The pu…
View article: Pilot Protocol for the Parent and Infant Inter(X)action Intervention (PIXI) Feasibility Study
Pilot Protocol for the Parent and Infant Inter(X)action Intervention (PIXI) Feasibility Study Open
This paper provides the detailed protocol for a pilot study testing the feasibility, acceptability, and initial efficacy of a targeted two-phase, remotely delivered early intervention program for infants with neurogenetic conditions (NGC) …
View article: Ethical, Legal, and Social Issues Related to the Inclusion of Individuals With Intellectual Disabilities in Electronic Health Record Research: Scoping Review
Ethical, Legal, and Social Issues Related to the Inclusion of Individuals With Intellectual Disabilities in Electronic Health Record Research: Scoping Review Open
Background Data from electronic health records (EHRs) are increasingly used in the field of genetic research to further precision medicine initiatives. However, many of these efforts exclude individuals with intellectual disabilities, whic…
View article: “Just tell me what’s going on”: The views of parents of children with genetic conditions regarding the research use of their child’s electronic health record
“Just tell me what’s going on”: The views of parents of children with genetic conditions regarding the research use of their child’s electronic health record Open
Objective The purpose of this study was to understand the ethical, legal, and social issues described by parents of children with known or suspected genetic conditions that cause intellectual and developmental disabilities regarding resear…
View article: Ethical, Legal, and Social Issues Related to the Inclusion of Individuals With Intellectual Disabilities in Electronic Health Record Research: Scoping Review (Preprint)
Ethical, Legal, and Social Issues Related to the Inclusion of Individuals With Intellectual Disabilities in Electronic Health Record Research: Scoping Review (Preprint) Open
BACKGROUND Data from electronic health records (EHRs) are increasingly used in the field of genetic research to further precision medicine initiatives. However, many of these efforts exclude individuals with intellectual disabilities, whi…
View article: Mindfulness and Acceptance as Potential Protective Factors for Mothers of Children With Fragile X Syndrome
Mindfulness and Acceptance as Potential Protective Factors for Mothers of Children With Fragile X Syndrome Open
Women with an FMR1 premutation may be at increased genetic risk for stress vulnerability. This increased vulnerability, when combined with stressful parenting that can result from raising children with fragile X syndrome (FXS), may result …
View article: Sensory Difficulties in Children With an FMR1 Premutation
Sensory Difficulties in Children With an FMR1 Premutation Open
Abnormal sensory processing is one of the core characteristics of the fragile X phenotype. Studies of young children with fragile X syndrome (FXS) and the FMR1 premutation have shown sensory challenges as early as infancy and into early ch…
View article: Family Communication and Cascade Testing for Fragile X Syndrome
Family Communication and Cascade Testing for Fragile X Syndrome Open
A total of 679 families who had at least one child with fragile X syndrome (FXS) were recruited from a research registry to participate in a survey examining cascade testing and communication about FXS. Families had a total of 1117 childre…
View article: Assessment Findings Associated with Partial Thickness Rotator Cuff Tears: A Secondary Analysis
Assessment Findings Associated with Partial Thickness Rotator Cuff Tears: A Secondary Analysis Open
Background: Shoulder pain is a common problem treated by physicians and physical therapists. A large number of these patients have injury to the rotator cuff. There is a range of severity in rotator cuff disease, which likely includes a hi…