Tuberous sclerosis complex (TSC) is a genetic condition characterized by both medical and neuropsychiatric diagnoses that emerge across the lifespan. As part of a clinical trial, caregivers of children with TSC were interviewed about their experiences navigating medical, school, and social services. Semistructured interviews (N = 20) with caregivers of children with TSC (27-60 months) were conducted upon exit from the study. The interviews covered topics related to experiences following diagnosis, interactions with providers, sources of information, and access to services and treatment. The main themes from the caregiver interviews included: (1) sources of information about TSC and treatment; (2) access to high-quality and expert medical care; (3) perception and diagnosis of TAND; (4) impact of epilepsy on daily life, intervention, and schooling; and (5) access to therapeutic services, compatible providers, and evaluations. Additionally, parents provided recommendations for other caregivers navigating their child's early treatment following diagnosis. These results reflect the importance of current research priorities for TSC stakeholders, including implementation of existing clinical guidelines, improved access to TSC expertise, and coordinated and integrated health care.

Carly Hyde

Logan Shurtz

Nicole McDonald

Maria Pizzano

Charles A. Nelson

Elizabeth A. Thiele

Connie Kasari

Shafali Jeste

American Journal on Intellectual and Developmental Disabilities

The American Journal on Intellectual and Developmental Disabilities (Print ISSN: 1944–7515; Online ISSN: 1944–7558) is published by the American Association on Intellectual and  Developmental Disabilities. It is a scientifi c, scholarly, and archival multidisciplinary journal for reporting original contributions of the highest quality to knowledge of intellectual disabilities, its causes, treatment, and prevention.

The American Journal on Intellectual and Developmental Disabilities (Print ISSN: 1944–7515; Online ISSN: 1944–7558) is published by the American Association on Intellectual and Developmental Disabilities. It serves as a scientific, scholarly, and archival multidisciplinary journal dedicated to reporting original contributions of the highest quality to the understanding of intellectual disabilities, including their causes, treatment, and prevention.

《American Journal on Intellectual and Developmental Disabilities》是由美国智力和发展障碍协会出版的期刊（印刷版 ISSN: 1944–7515；在线版 ISSN: 1944–7558）。该期刊是一个科学、学术和档案性的多学科期刊，旨在报告对智力障碍及其原因、治疗和预防的高质量原创贡献。

Category	Quartile
医学	4
医学, 特殊教育学	4
医学, 康复医学	4

Diagnostic Journey for Tuberous Sclerosis Complex—Interviews From a Clinical Trial

ivySCI AI Smartly Parses PDF, Answers Researchers' Questions, and Helps You Understand Papers in Seconds

Journal Info