Loren Leclezio1, Anna Jansen2, Vicky H Whittemore3, Petrus J de Vries4. 1. Division of Child & Adolescent Psychiatry, Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa. 2. Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Vrije Universiteit Brussel, Brussels, Belgium. 3. National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland. 4. Division of Child & Adolescent Psychiatry, Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa. Electronic address: petrus.devries@uct.ac.za.
Abstract
BACKGROUND: Tuberous sclerosis complex is a multisystem disorder that includes a range of tuberous sclerosis-associated neuropsychiatric disorders (TAND). The lifetime prevalence rates of TAND are very high; yet surveys suggest that the majority of individuals with tuberous sclerosis never receive appropriate assessment or treatment for TAND. To aid systematic enquiry, a TAND Checklist was developed. Here, we performed pilot validation of the TAND Checklist. METHOD: Mixed methods were used across two stages. In stage 1, we gathered feedback on the Checklist from tuberous sclerosis "expert professionals" and "expert parents and caregivers." The aim was to examine face and content validity. Stage 2 involved the administration of the refined TAND Checklist to 20 parents of individuals with tuberous sclerosis concurrently with four widely used validated rating scales, to examine external validity and obtain qualitative feedback on face-to-face administration of the TAND Checklist. RESULTS: Twenty professionals and 62 parents and caregivers from 28 countries participated in the pilot. The TAND Checklist demonstrated good face and content validity with high overall mean and median scores. Qualitative analysis highlighted concerns about the likely use of the TAND Checklist, suggesting that family members and individuals with tuberous sclerosis should drive usage. Stage 2 results showed moderate-to-very good external validity across TAND domain and key subdomains. Internal consistency of domains and subdomains was acceptable to very good. Ninety-three percent of all participants (93%) reported four or more lifetime TAND behavioral difficulties. CONCLUSION: The pilot validation suggested that the TAND Checklist could provide a useful screening tool in clinical settings.
BACKGROUND:Tuberous sclerosis complex is a multisystem disorder that includes a range of tuberous sclerosis-associated neuropsychiatric disorders (TAND). The lifetime prevalence rates of TAND are very high; yet surveys suggest that the majority of individuals with tuberous sclerosis never receive appropriate assessment or treatment for TAND. To aid systematic enquiry, a TAND Checklist was developed. Here, we performed pilot validation of the TAND Checklist. METHOD: Mixed methods were used across two stages. In stage 1, we gathered feedback on the Checklist from tuberous sclerosis "expert professionals" and "expert parents and caregivers." The aim was to examine face and content validity. Stage 2 involved the administration of the refined TAND Checklist to 20 parents of individuals with tuberous sclerosis concurrently with four widely used validated rating scales, to examine external validity and obtain qualitative feedback on face-to-face administration of the TAND Checklist. RESULTS: Twenty professionals and 62 parents and caregivers from 28 countries participated in the pilot. The TAND Checklist demonstrated good face and content validity with high overall mean and median scores. Qualitative analysis highlighted concerns about the likely use of the TAND Checklist, suggesting that family members and individuals with tuberous sclerosis should drive usage. Stage 2 results showed moderate-to-very good external validity across TAND domain and key subdomains. Internal consistency of domains and subdomains was acceptable to very good. Ninety-three percent of all participants (93%) reported four or more lifetime TAND behavioral difficulties. CONCLUSION: The pilot validation suggested that the TAND Checklist could provide a useful screening tool in clinical settings.
Authors: Petrus J de Vries; Lucy Wilde; Magdalena C de Vries; Romina Moavero; Deborah A Pearson; Paolo Curatolo Journal: Am J Med Genet C Semin Med Genet Date: 2018-08-16 Impact factor: 3.908
Authors: Abigail Dickinson; Kandice J Varcin; Mustafa Sahin; Charles A Nelson; Shafali S Jeste Journal: Autism Res Date: 2019-08-16 Impact factor: 5.216
Authors: Petrus J de Vries; Vicky H Whittemore; Loren Leclezio; Anna W Byars; David Dunn; Kevin C Ess; Dena Hook; Bryan H King; Mustafa Sahin; Anna Jansen Journal: Pediatr Neurol Date: 2014-10-16 Impact factor: 3.372
Authors: Jamie K Capal; Marian E Williams; Deborah A Pearson; Robin Kissinger; Paul S Horn; Donna Murray; Kristn Currans; Bridget Kent; Martina Bebin; Hope Northrup; Joyce Y Wu; Mustafa Sahin; Darcy A Krueger Journal: Ann Neurol Date: 2021-10-29 Impact factor: 10.422
Authors: Mustafa Sahin; Elizabeth P Henske; Brendan D Manning; Kevin C Ess; John J Bissler; Eric Klann; David J Kwiatkowski; Steven L Roberds; Alcino J Silva; Coryse St Hillaire-Clarke; Lisa R Young; Mark Zervas; Laura A Mamounas Journal: Pediatr Neurol Date: 2016-04-02 Impact factor: 3.372
Authors: John C Kingswood; Guillaume B d'Augères; Elena Belousova; José C Ferreira; Tom Carter; Ramon Castellana; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Petrus J de Vries; Martha Feucht; Carla Fladrowski; Gabriella Gislimberti; Christoph Hertzberg; Sergiusz Jozwiak; John A Lawson; Alfons Macaya; Rima Nabbout; Finbar O'Callaghan; Mirjana P Benedik; Jiong Qin; Ruben Marques; Valentin Sander; Matthias Sauter; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; Anna C Jansen Journal: Orphanet J Rare Dis Date: 2017-01-05 Impact factor: 4.123