The aim of this study was to develop molecular genetics inquiry programs using the "eyes absent" gene of "Drosophila melanogaster." The program was composed of various molecular genetics experiments, including mutation observation, cross-breeding, searching for genetic information in web databases, gDNA extraction, and PCR.…

Background: Children with Prader-Willi Syndrome (PWS) display impaired pretend play abilities, reflective of broader social-cognitive challenges. Pretend play interventions for children with PWS demonstrate preliminary efficacy for improving cognitive and affective processes in play. It is unknown which specific intervention strategies, such as…

Rett syndrome is a severe neurodevelopmental disorder that affects about 1 in 10,000 females. Clinical trials of disease modifying therapies are on the rise, but there are few psychometrically sound caregiver-reported outcome measures available to assess treatment benefit. We report on a new caregiver-reported outcome measure, the Rett Caregiver…

Knowledge about genetics is essential to build a society capable of participating in socioscientific and ethical debates. However, this subject remains difficult for students, making it necessary to develop new educational strategies, such as gamification. Thus, two main objectives are established in this work: (a) to design and evaluate…

The purpose of this qualitative study was to explore the lived experience of individuals' self-management of celiac disease, and the role experiential learning played in that lived experience. The study was guided by the research question: What was the lived experience of individuals' self-management of celiac disease and what role did…

This study examined if listening to music will improve the accuracy of blood pressure (BP) readings in children with Williams syndrome (WS). Fifty-two participants (7-12 years) were randomly assigned to a music or non-music group. BPs were obtained at two time points. There was a significant decrease in both systolic and diastolic BP from Time 1…

The study examines the role of independent work in enhancing the genetic knowledge of third-year biology students within a multilingual education setting. Conducted at Abai Kazakh National Pedagogical University, the research involved 164 biology teacher candidates. A quasi-experimental design with pre-test and post-test measures was employed to…

Sleep problems are prevalent among autistic children and children with Rare Genetic Neurodevelopmental Disorders (RGND). Behavioral interventions are commonly used to treat sleep problems, with most involving extinction. While effective, the occurrence of a response burst (i.e., temporary worsening of the behavior) can result in a temporary…

Due to loss of spoken language and resulting complex communication needs, people with Rett syndrome are obvious candidates for communication intervention. To advance evidence-based practice and guide future research efforts, we identified and summarized 16 communication intervention studies published since a previous 2009 review on this topic.…

Community health advisors (CHAs) play a key role in promoting health in medically underserved communities, including in addressing cancer disparities. There is a need to expand the research on what characteristics make for an effective CHA. We examined the relationship between CHA personal and family history of cancer, and implementation and…

Rett syndrome is a severe neurodevelopmental disorder that results in both motor and language skill regression with a wide range of severity in symptom presentation. Communication intervention may be particularly challenging for this population due to the decline in speech, motor skills, and motor planning difficulties that characterize the…

Adults with Williams syndrome (WS) display hypersocial behaviors and experience social skills deficits. To improve social outcomes, we evaluated the feasibility, acceptability, and preliminary efficacy of an 8-week distance-delivered social skills program for adults with WS. Sessions were offered twice a week for 90 min. Twenty-four adults with WS…

Elective genetic testing (EGT) programs that provide pharmacogenomic information to guide medication management and screen for medically actionable disease predispositions are emerging in a number of health systems. Primary care providers (PCPs) are at the forefront of test initiation, patient education, and management of EGT results. However,…

The study focused on the development of a website that can be used in various fields of science in Junior High School. Particularly, topics that were utilized as part of the re-search report include chromosomes, DNA, and genes for grade 9 learners. This exploratory case study explored learners' engagement and performance on a developed virtual…

Phelan-McDermid syndrome (PMS), also called 22q13.3 deletion syndrome, is a rare genetic disorder affecting at least 2,000 people worldwide (Phelan-McDermid Syndrome Foundation, 2019, How rare is Phelan-McDermid?). PMS has many distinguishing characteristics and many medical specialties have been recommended to treat the clinical features. While…