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Direct linkKyla Arcebido; Emily Val Tuliao; Andryella Maxie Ibarra; Kai Russell; Aracelly Valdes; Sohum Shinkre; Samantha Gefen; Amelia Evans; Sabrina Barella; Joelle Wadei; Isabella Quinon; Takahiro Soda – Autism: The International Journal of Research and Practice, 2025
Genetic tests, such as Fragile X and Chromosomal Microarray, are recommended as a standard of care during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous research demonstrates low rates of genetic testing. This study aimed to identify the rates of genetic testing and patient demographic…
Descriptors: Genetic Disorders, Autism Spectrum Disorders, Neurodevelopmental Disorders, Databases
Melloy, Patricia G. – Biochemistry and Molecular Biology Education, 2015
A two-part laboratory exercise was developed to enhance classroom instruction on the significance of p53 mutations in cancer development. Students were asked to mine key information from an international database of p53 genetic changes related to cancer, the IARC TP53 database. Using this database, students designed several data mining activities…
Descriptors: College Science, Undergraduate Study, Science Laboratories, Cancer
Louise, Sandra; Fyfe, Sue; Bebbington, Ami; Bahi-Buisson, Nadia; Anderson, Alison; Pineda, Merce; Percy, Alan; Zeev, Bruria Ben; Wu, Xi Ru; Bao, Xinhua; MacLeod, Patrick; Armstrong, Judith; Leonard, Helen – Research in Autism Spectrum Disorders, 2009
Rett syndrome (RTT) is a rare genetic disorder within the autistic spectrum. This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian Rett syndrome database (ARSD). It also explored the strengths and limitations of InterRett in comparison with other…
Descriptors: Genetic Disorders, Autism, Genetics, Databases
David, M.; Dieterich, K.; Billette de Villemeur, A.; Jouk, P.-S.; Counillon, J.; Larroque, B.; Bloch, J.; Cans, C. – Journal of Intellectual Disability Research, 2014
Background: Studies conducted on mild intellectual disability (MID) in children are infrequent and the prevalence rates vary widely. This study aimed to estimate the prevalence of MID in children in a French county (Isère), to describe the clinical signs and associated comorbidities, and to specify the aetiologies of this disability. Methods: The…
Descriptors: Mild Mental Retardation, Incidence, Children, Foreign Countries
Holland, A.; Whittington, J.; Cohen, O.; Curfs, L.; Delahaye, F.; Dudley, O.; Horsthemke, B.; Lindgren, A. -C.; Nourissier, C.; Sharma, N.; Vogels, A. – Journal of Intellectual Disability Research, 2009
Background: Prader-Willi Syndrome (PWS) is a rare genetically determined neurodevelopmental disorder with a complex phenotype that changes with age. The rarity of the syndrome and the need to control for different variables such as genetic sub-type, age and gender limits clinical studies of sufficient size in any one country. A clinical research…
Descriptors: Data Collection, Databases, Genetic Disorders, Neurological Impairments
Bednarski, April E.; Elgin, Sarah C. R.; Pakrasi, Himadri B. – Cell Biology Education, 2005
This inquiry-based lab is designed around genetic diseases with a focus on protein structure and function. To allow students to work on their own investigatory projects, 10 projects on 10 different proteins were developed. Students are grouped in sections of 20 and work in pairs on each of the projects. To begin their investigation, students are…
Descriptors: Inquiry, Science Laboratories, Molecular Structure, Cooperative Learning
Download full textRao, Patricia A.; Holtz, Kristen D.; Ziegert, Amanda; Brown, Shana – Organization for Autism Research, 2003
Parents of children with autism face many challenges that arise from the practical, day-to-day issues of living with autism. The specific goals of this guide are to help parents: (1) Find information about autism; (2) Distinguish between research-based and non-research-based information; (3) Become savvy consumers of information by giving them the…
Descriptors: Parent Materials, Autism, Parents, Child Rearing
