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Full-Text Articles in Genetics and Genomics
Sexual Health Education For Children With Neurodevelopmental Disorders: Genetic Counselor And Pediatrician Perspectives, Mary Catherine Smith
Sexual Health Education For Children With Neurodevelopmental Disorders: Genetic Counselor And Pediatrician Perspectives, Mary Catherine Smith
Theses and Dissertations
Many barriers prevent individuals with disabilities from receiving appropriate sexual health education (SHE), including deficits in socialcommunication skills and lack of resources and trained educators. There are few guidelines specifically addressing how to accommodate for providing SHE to individuals with disabilities. Healthcare professionals who are trained in working with adolescents with disabilities, such as pediatric genetic counselors, developmental-behavioral pediatricians (DBP), and neurodevelopmental disabilities (NDD) subspecialty pediatricians, could fill this gap. The purpose of the current study was to assess what informational items pediatric genetic counselors, DBP, and NDD subspecialty pediatricians felt were most essential to include in SHE for children …
Phenotypes And Variants In Cases Submitted For X-Linked Intellectual Disability (Xlid) Gene Panel Testing, Michael J. Friez
Phenotypes And Variants In Cases Submitted For X-Linked Intellectual Disability (Xlid) Gene Panel Testing, Michael J. Friez
Theses and Dissertations
Intellectual disability (ID) refers to reduced cognitive function, apparent before the age of 18, that negatively affects a person's learning and adaptive capacity. Approximately 1-3% of the population is affected with ID, males more than females, and most in the mild-to-moderate range. ID creates financial, logistical and psychosocial challenges for affected persons and their families and caregivers. It is estimated that up to 50% of ID has a genetic cause. Molecular genetic diagnosis may help in obtaining services and has important implications for family members, but can be elusive. Genes causing ID are known to be over-represented on the X …