Evidence map›Paper›PMID 40514711›Full record

ArticleOrphanet journal of rare diseases2025

Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ).

Nola Chambers, Tosca-Marie Heunis, Sugnet Gardner-Lubbe, Jamie K Capal, Stacey Bissell, Anna W Byars, Sebastián Cukier, Peter E Davis, Jennifer Flinn, Tanjala T Gipson and 14 more

Abstract read
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In one paragraph

Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors.

Nola ChambersCentre for Autism Research in Africa (CARA), Division of Child and Adolescent Psychiatry, University of Cape Town, 46 Sawkins Road, Rondebosch, Cape Town, 7700, South Africa. nola.chambers@uct.ac.za.ORCID http://orcid.org/0000-0001-7008-472X
Tosca-Marie HeunisMental Health and Wellbeing Research Group, Department of Public Health, Vrije Universiteit Brussel, Brussels, Belgium.ORCID http://orcid.org/0000-0001-7644-5231
Sugnet Gardner-LubbeDepartment of Statistics and Actuarial Sciences, MuViSU (Centre for Multi-Dimensional Data Visualisation), Stellenbosch University, Stellenbosch, South Africa.ORCID http://orcid.org/0000-0003-2762-9944
Jamie K CapalDepartment of Neurology, University of Rochester Medical Center, Rochester, NY, USA.ORCID http://orcid.org/0000-0002-7579-375X
Stacey BissellSchool of Psychology, University of Birmingham, Birmingham, UK.ORCID http://orcid.org/0000-0003-0701-3392
Anna W ByarsDivision of Neurology, Department of Pediatrics, Cincinnati Children'S Hospital Medical Center/University of Cincinnati College of Medicine, Cincinnati, OH, USA.ORCID http://orcid.org/0000-0002-3929-6107
Sebastián CukierDepartment of Psychopathology and Mental Health, Pedro de Elizalde Hospital, Buenos Aires, Argentina.ORCID http://orcid.org/0000-0002-1497-4709
Peter E DavisDepartment of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-5796-6015
Jennifer FlinnTSC Canada, Mississauga, ON, Canada.
Tanjala T GipsonDepartment of Pediatrics, The University of Tennessee Health Sciences Center, Memphis, TN, USA.ORCID http://orcid.org/0000-0002-6903-743X
J Chris KingswoodDepartment of Clinical Genetics, St George's University Hospitals, London, UK.ORCID http://orcid.org/0000-0001-8794-9857
Aubrey J KummCentre for Autism Research in Africa (CARA), Division of Child and Adolescent Psychiatry, University of Cape Town, 46 Sawkins Road, Rondebosch, Cape Town, 7700, South Africa.ORCID http://orcid.org/0000-0002-9472-7539
Eva SchoetersBe-TSC, Mortsel, Belgium.
Catherine SmithTSC Alliance, Silver Spring, MD, USA.
Shoba SrivastavaCentre for Autism Research in Africa (CARA), Division of Child and Adolescent Psychiatry, University of Cape Town, 46 Sawkins Road, Rondebosch, Cape Town, 7700, South Africa.
Megumi TakeiJapanese Society of Tuberous Sclerosis Complex, Family Network, Tokyo, Japan.
Stephanie VancloosterMental Health and Wellbeing Research Group, Department of Public Health, Vrije Universiteit Brussel, Brussels, Belgium.ORCID http://orcid.org/0000-0002-5642-7711
Agnies M van EeghenEmma Children'S Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0001-8149-8645
Robert WaltereitDepartment of Psychiatry, Psychotherapy and Preventive Medicine, Ruhr University Bochum, Bochum, Germany.ORCID http://orcid.org/0000-0002-5338-2765
Darcy A KruegerTSC Clinic, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.ORCID http://orcid.org/0000-0002-7250-7391
Mustafa SahinDepartment of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-7044-2953
Liesbeth De WaeleDepartment of Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0001-7126-575X
Anna C JansenMental Health and Wellbeing Research Group, Department of Public Health, Vrije Universiteit Brussel, Brussels, Belgium.ORCID http://orcid.org/0000-0002-3835-2824
Petrus J de VriesCentre for Autism Research in Africa (CARA), Division of Child and Adolescent Psychiatry, University of Cape Town, 46 Sawkins Road, Rondebosch, Cape Town, 7700, South Africa.ORCID http://orcid.org/0000-0002-8915-1571

Funding

Toward better characterization and clinical trial readiness for targeting neuropsychiatric manifestations in PTEN pathogenic variantsU54NS092090 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Darcy Krueger · 2014 to 2026
$20.1M
King Baudouin Foundation Fund Dr. & Mrs. Charles Tournay‑Dubisson 2019‑J1120010‑213544NINDS NIH HHS U54 NS092090Research Foundation Flanders FWO 1805321NTuberous Sclerosis Association 2019-P03U.S. Department of Defense HT94252410790U.S. Department of Defense HT94252410791
6 · The paper itself

Abstract

backgroundTuberous Sclerosis Complex (TSC) is a rare multi-system genetic disorder characterised by benign growths in multiple body systems. TSC-Associated Neuropsychiatric Disorders (TAND) are very common in individuals with TSC, but families often struggle to access appropriate clinical care. To address this gap, the new TAND-SQ Checklist allows individuals with TSC or their caregivers to self-report and quantify characteristics of TAND. The 33 items make up seven natural TAND clusters and an eighth cluster reflecting psychosocial difficulties in individuals with TSC and their caregivers. Respondents rate items as having ever been present to generate cluster scores (CS), and rate item severity (over the last month) on a 10-point scale to generate cluster severity scores (CSS

methodsA descriptive group design was used. Two convenience samples with existing clinical data were recruited from the TSC Alliance Natural History Database (NHD) in the USA (n = 69), and from the Developmental Synaptopathies Consortium Rare Diseases Clinical Research Network (RDCRN) study based at Boston and Cincinnati Children's Hospitals (n = 23), totalling 92 participants.

resultsAnalyses showed good internal consistency for CS (Cronbach's alphas: 0.67-0.89) and CSS

conclusionsFindings provide support for the reliability and validity of the CS, CSS

Indexed as

ChecklistMental DisordersTuberous SclerosisAdolescentAdultChildChild, PreschoolFemaleHumansMaleSelf ReportYoung AdultReliabilityTANDTAND-SQ ChecklistTSC-Associated Neuropsychiatric DisordersTuberous Sclerosis ComplexValidity

Identifiers

PMID40514711
PMCPMC12166616

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.