ABSTRACT
BACKGROUND: Tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) are often present but underidentified and undertreated in individuals with tuberous sclerosis complex (TSC). The clinician-completed TAND-Lifetime Checklist (TAND-L) was developed to address this identification and treatment gap. Stakeholder engagement identified the need for a TAND Checklist that can (1) be completed by caregivers or individuals with TSC and (2) quantify TAND difficulties. The aim of this study was to develop a self-report quantified TAND Checklist (TAND-SQ) and conduct feasibility and acceptability testing. METHODS: This aim was addressed in three phases: (1) development of the TAND-SQ Checklist, (2) feasibility and acceptability testing of the "near-final" TAND-SQ Checklist, and (3) preparation of the final TAND-SQ Checklist. Participants included 23 technical experts from the TAND consortium in all phases and 58 lived experts (caregivers and individuals with TSC) in phase 2. All participants completed a TAND-SQ Checklist and a checklist feedback form. RESULTS: Phase 1 additions to the TAND-SQ, when compared with the TAND-L, included four new items and a quantification rating. Phase 2 showed high ratings for the "near-final" TAND-SQ Checklist on comprehensiveness, clarity, ease of use, and overall acceptability. In phase 3, questions on strengths, strategies, and a TAND Cluster Profile were added. CONCLUSION: The TAND-SQ Checklist is presented here for use by individuals with TSC and their caregivers. The next steps as part of the TANDem project include internal and external validation of the checklist and linking of TAND Cluster Profiles generated from the checklist to evidence-informed consensus recommendations within a smartphone application.
Subject(s)
Checklist , Tuberous Sclerosis , Humans , Self Report , Feasibility Studies , Tuberous Sclerosis/complications , ConsensusABSTRACT
Neuropsychiatric manifestations in Tuberous Sclerosis Complex (TSC): diagnostic guidelines, TAND concept and therapy with mTOR inhibitors Abstract. Tuberous sclerosis complex (TSC), albeit a rare autosomal-dominant multisystem disease with an incidence of 1:6,000, is one of the most important monogenetic disorders in child and adolescent psychiatry. In up to 90 % of patients, neurological disorders such as epilepsy and psychiatric disorders such as autism spectrum disorder, ADHD, affective disorders, and intellectual disability are observed. In recent years, significant progress has been made in understanding the molecular mechanism as well as in the clinical diagnosis and treatment of the disease. Here, we review these recent developments. In the first part, we describe the need for psychiatric assessment and treatment of patients and analyse challenges in interdisciplinary work between child and adolescent psychiatry, child neurology, and other professional groups. In the second part, we introduce the concept of TSC-associated neuropsychiatric disorders (TAND), developed by the TSC Neuropsychiatry Panel as a guide to help clinical teams, families, and individuals with TSC via screening, assessment, and treatment of neuropsychiatric symptoms and disorders as well as with a novel screening instrument, the TAND Checklist. Finally, we report findings from recent clinical trials of mTOR-inhibitors to treat TAND. The paper includes the German translation of the TAND Checklist as an electronic supplement.
Subject(s)
Protein Kinase Inhibitors/therapeutic use , TOR Serine-Threonine Kinases/antagonists & inhibitors , Tuberous Sclerosis/diagnosis , Tuberous Sclerosis/drug therapy , Adolescent , Attention Deficit Disorder with Hyperactivity/complications , Autism Spectrum Disorder/complications , Checklist , Child , Epilepsy/complications , Humans , Intellectual Disability/complications , TOR Serine-Threonine Kinases/metabolism , Tuberous Sclerosis/complications , Tuberous Sclerosis/psychologyABSTRACT
Tuberous sclerosis complex (TSC) is associated with a wide range of behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties, which are often underdiagnosed and undertreated. Here, we present a clinical update on TSC-associated neuropsychiatric disorders, abbreviated as "TAND," to guide screening, diagnosis, and treatment in practice. The review is aimed at clinical geneticists, genetic counselors, pediatricians, and all generalists involved in the assessment and treatment of children, adolescents and adults with TSC, and related disorders. The review starts with a summary of the construct and levels of TAND, before presenting up-to-date information about each level of investigation. The review concludes with a synopsis of current and future TAND research.
