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Showing 1 to 15 of 57 results Save | Export
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Jinhyeon Choi; Sang-Hak Jeon; Hyeon-Pyo Shim – Biochemistry and Molecular Biology Education, 2024
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.…
Descriptors: Genetics, Molecular Structure, Animals, Genetic Disorders
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Rachel A. Gordon; Sandra W. Russ; Anastasia Dimitropoulos – Journal of Developmental and Physical Disabilities, 2024
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…
Descriptors: Children, Preadolescents, Genetic Disorders, Play
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Melissa Raspa; Angela Gwaltney; Carla Bann; Jana von Hehn; Timothy A. Benke; Eric D. Marsh; Sarika U. Peters; Amitha Ananth; Alan K. Percy; Jeffrey L. Neul – Journal of Autism and Developmental Disorders, 2025
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…
Descriptors: Neurodevelopmental Disorders, Genetic Disorders, Females, Test Validity
Stacey LeNell Gable Solomon – ProQuest LLC, 2024
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…
Descriptors: Self Management, Eating Habits, Diseases, Experiential Learning
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Walton, Jennifer R.; Martens, Marilee A.; Moore-Clingenpeel, Melissa – Journal of Autism and Developmental Disorders, 2022
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…
Descriptors: Genetic Disorders, Children, Physiology, Music
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Emma C. Woodford; Laurie McLay; Neville M. Blampied; Karyn G. France; Rosina Gibbs; Charis Whitaker; Emma McCaughan – Journal of Developmental and Physical Disabilities, 2023
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…
Descriptors: Sleep, Neurodevelopmental Disorders, Intervention, Behavior Modification
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Sigafoos, Jeff; Roche, Laura; O'Reilly, Mark F.; Lancioni, Giulio E.; Marschik, Peter B. – Augmentative and Alternative Communication, 2023
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.…
Descriptors: Genetic Disorders, Augmentative and Alternative Communication, Communication Skills, Evidence Based Practice
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Rebecca L. Kolb; Jennifer J. McComas; Shawn N. Girtler; Jessica Simacek; Adele F. Dimian; Emily K. Unholz-Bowden; Alefyah H. Shipchandler – Journal of Developmental and Physical Disabilities, 2023
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…
Descriptors: Neurological Impairments, Genetic Disorders, Females, Augmentative and Alternative Communication
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Fisher, Marisa H.; Kammes, Rebecca R.; Black, Rhonda S.; Houck, Kristin; Cwiakala, Katie – Journal of Autism and Developmental Disorders, 2022
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…
Descriptors: Distance Education, Interpersonal Competence, Social Development, Young Adults
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Schroeder, Kate A.; Witts, Benjamin N.; Traub, Michele R. – International Journal of Developmental Disabilities, 2022
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…
Descriptors: Genetic Disorders, Behavior Modification, Applied Behavior Analysis, Program Effectiveness
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Wilkinson, Ellen H.; Britton, Tobias C.; Hall, Scott S. – American Journal on Intellectual and Developmental Disabilities, 2022
We examined potential phenotypic differences in eye gaze avoidance exhibited by boys with autism spectrum disorder (ASD) and boys with fragile X syndrome (FXS). In Study 1, the Eye Contact Avoidance Scale (ECAS) was administered to caregivers of boys aged 7-18 years with FXS (n = 148), ASD (n = 168), and mixed developmental disabilities (MDD; n =…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Eye Movements, Males
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Vascelli, Luca; Berardo, Federica; Iacomini, Silvia; Scorza, Maristella; Cavallini, Francesca – Journal of Applied Research in Intellectual Disabilities, 2023
Background: Social communication skills are critical for full participation in social activities in primary life contexts for adolescents and young adults with neurodevelopmental disorders. Method: Two young adults with Prader Willi syndrome participated in an online socialisation programme with elderly and adolescent conversational partners. We…
Descriptors: Communication Skills, Interpersonal Communication, Young Adults, Genetic Disorders
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Fabrizio Stasolla; Alessandro O. Caffò; Donatella Ciarmoli; Vincenza Albano – Journal of Developmental and Physical Disabilities, 2021
We further extended the use of a microswitch-cluster technology to promote object manipulation and to reduce tongue protrusion in seven children with Angelman syndrome. Study I included seven participants with severe to profound developmental disabilities. An ABB[superscript 1]AB[superscript 1] experimental sequence was implemented. During the…
Descriptors: Genetic Disorders, Developmental Disabilities, Severe Disabilities, Assistive Technology
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Rysstad, Anne Langseth; Kildahl, Arvid Nikolai; Skavhaug, Jon Olav; Dønnum, Monica Stolen; Helverschou, Sissel Berge – International Journal of Developmental Disabilities, 2022
Phelan-McDermid syndrome (PHMDS)/22q13.3 deletion syndrome is a rare genetic disorder associated with autism spectrum disorder (ASD), intellectual disability (ID), and bipolar disorder. While numerous cases have been reported describing successful pharmacological treatment of bipolar disorder in PHMDS, there is currently little guidance available…
Descriptors: Genetic Disorders, Autism Spectrum Disorders, Intellectual Disability, Mental Disorders
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Corti, Claudia; Oldrati, Viola; Storm, Fabio; Bardoni, Alessandra; Strazzer, Sandra; Romaniello, Romina – Journal of Intellectual Disabilities, 2023
Increased attention is arising on the delivery of remote cognitive interventions, which allow performing exercises in everyday settings, favouring rehabilitation continuity. The present study offers an overview of remote cognitive training programs for children with congenital brain malformation or genetic syndrome affecting the central nervous…
Descriptors: Brain, Neurological Impairments, Genetic Disorders, Distance Education
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