Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist
Open accessAbstract
Background Tuberous sclerosis complex is a multisystem genetic disorder with a range of physical manifestations that require evaluation, surveillance, and management. Individuals with tuberous sclerosis complex also have a range of behavioral, psychiatric, intellectual, academic, neuropsychologic, and psychosocial difficulties. These may represent the greatest burden of the disease. Around 90% of individuals with tuberous sclerosis complex will have some of these difficulties during their lifetime, yet only about 20% ever receive evaluation and treatment. The Neuropsychiatry Panel at the 2012 Tuberous Sclerosis Complex International Consensus Conference expressed concern about the significant "treatment gap" and about confusion regarding terminology relating to the biopsychosocial difficulties associated with tuberous sclerosis complex. Methods The Tuberous Sclerosis Complex Neuropsychiatry Panel coined the term TAND-tuberous sclerosis complex-associated neuropsychiatric disorders-to bring together these multidimensional manifestations of the disorder, and recommended annual screening for TAND. In addition, the Panel agreed to develop a TAND Checklist as a guide for screening. Results Here, we present an outline of the conceptualization of TAND, rationale for the structure of the TAND Checklist, and include the full US English version of the TAND Checklist. Conclusion We hope that the unified term TAND and the TAND Checklist will raise awareness of the importance of tuberous sclerosis complex-associated neuropsychiatric disorders and of the major burden of disease associated with it, provide a shared language and a simple tool to describe and evaluate the different levels of TAND, alert clinical teams and families or individuals of the importance of screening, assessment, and treatment of TAND, and provide a shared framework for future studies of tuberous sclerosis complex-associated neuropsychiatric disorders.
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Development of the TAND checklist was necessary because 90% of patients with TSC endorsed neuropsychiatric symptoms, yet only 20% received treatment.
“Development of the TAND checklist was necessary because 90% of patients with TSC endorsed neuropsychiatric symptoms, yet only 20% received treatment.11”
From Association of Cognitive and Behavioral Features Between Adults With Tuberous Sclerosis and Frontotemporal Dementia (2020) · cites this paper as [11]
The Introduction links development of the TAND Checklist to a substantial treatment gap: more than 90% of individuals with TSC were likely to have relevant challenges, while only 18% of surveyed families had ever received recommended evaluations or treatments. It does not say that 90% of patients endorsed symptoms or that 20% received treatment; those figures change both what was measured and who was counted. (LLM, conf=0.88)
Experimental — accuracy not yet measuredIndividuals with TSC commonly experience a wide spectrum of cognitive, behavioral and psychiatric symptoms collectively known as Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND).
“Individuals with TSC commonly experience a wide spectrum of cognitive, behavioral and psychiatric symptoms collectively known as Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND) (5).”
Patients with TSC frequently suffer from behavioral, cognitive and psychiatric difficulties collectively termed TAND.
“In addition to the physical manifestations of TSC, these patients frequently suffer from behavioral, cognitive and psychiatric difficulties collectively termed Tuberous Sclerosis Complex Associated Neuropsychiatric disorders (TAND) [14].”
From Tuberous sclerosis complex is a novel, amyloid-independent tauopathy associated with elevated phosphorylated 3R/4R tau aggregation (2022) · cites this paper as [14]
The TAND checklist serves as a clinical screening tool to assess neuropsychiatric difficulties that include the behavioral, cognitive and psychiatric domains.
“The TAND checklist serves as a clinical screening tool to assess neuropsychiatric difficulties that include the behavioral, cognitive and psychiatric domains.11”
From Association of Cognitive and Behavioral Features Between Adults With Tuberous Sclerosis and Frontotemporal Dementia (2020) · cites this paper as [11]
Prior reports depict tau-related changes as elevated p-tau staining in the absence of frank neurofibrillary tangles.
“Generally, prior reports depict tau-related changes as elevated p-tau staining in the absence of frank neurofibrillary tangles.”
From Tuberous sclerosis complex is associated with a novel human tauopathy (2023) · cites this paper as [6]
The Introduction discusses mTOR signaling and neuropsychiatric difficulties in tuberous sclerosis, not tau pathology. Searches for p-tau staining and neurofibrillary tangles found no passage in our copy addressing either finding; page numbers were unavailable. (LLM, conf=0.76)
Experimental — accuracy not yet measured
TSC tauopathy differs from other TSC-related tau abnormalities previously reported.
“TSC tauopathy also differs from other TSC-related tau abnormalities previously reported in the TSC literature by our group [12, 16] and others [6, 11].”
From Tuberous sclerosis complex is associated with a novel human tauopathy (2023) · cites this paper as [6]
The Introduction discusses TSC, mTOR signaling, and neuropsychiatric difficulties, but does not discuss tauopathy or compare TSC-related tau abnormalities. Searches for tauopathy, tau abnormalities, tau protein, and neurofibrillary tangles found no passage addressing the claimed distinction. No page numbers were available in our copy. (LLM, conf=0.76)
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Autism Spectrum Disorder and Epilepsy: Pathogenetic Mechanisms and Therapeutic Implications
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- Authors
- de Vries, P. J., Whittemore, V. H., Leclezio, L., Byars, A. W., Dunn, D., Ess, K. C., Hook, D., King, B. H., Sahin, M., & Jansen, A.
- Affiliations
- National Institutes of Health (US)
- University of Cape Town (ZA)
- Cincinnati Children's Hospital Medical Center (US)
- Riley Hospital for Children (US)
- Vanderbilt University Medical Center (US)
- Seattle Children's Hospital (US)
- Vrije Universiteit Brussel (BE)
- Venue
- Pediatric Neurology
- Publisher
- Elsevier BV
- Published
- 2015-01
- Volume
- 52
- Issue
- 1
- Pages
- 25-35
- ISSN
- 0887-8994 (ISSN-L)
- PMC
- PMC4427347
- OpenAlex
- W2067318667
- Cited by
- 371
- References
- 41
- Citations by year
- 2026: 29 · 2025: 31 · 2024: 33 · 2023: 19 · 2022: 37 · 2021: 50 · 2020: 59 · 2019: 20 · 2018: 27 · 2017: 26 · 2016: 27 · 2015: 12 · 2014: 1
- FWCI
- 14.67
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Pediatric Neurology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- VUBIR (Vrije Universiteit Brussel) (submittedVersion)
- Funders
- NRF
- PERC
- Struengmann Fund
- NIH
- Novartis (1U01NS082320-01)
- Eli Lilly and Company
- Roche
- Topics
- Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Keywords
- tuberous sclerosis complex, neuropsychiatric disorders, treatment gap, intellectual disability, psychiatric comorbidity, psychosocial problems, terminology standardization
- MeSH terms
- Adolescent, Adult, Mental Disorders, Brain Diseases, Child, Child, Preschool, Humans, Infant, Terminology as Topic, Pilot Projects, Tuberous Sclerosis, Checklist
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