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Quality of life and disease burden in tuberous sclerosis and comparison with the population with idiopathic autism spectrum disorder

An investigation conducted through questionnaires and clinical data collection in the pediatric population

Bibliographic Data

ID15527920
AuthorsGiorgia Sforza (0000-0003-3068-4768, Bambino Gesù Children's Hospital), Alessandra Voci (0000-0002-6952-8300, Bambino Gesù Children's Hospital, corresponding author), Virginia Tonietti (University of Rome Tor Vergata), Giacomo Racioppi (University of Rome Tor Vergata), Martina Proietti Checchi (0000-0002-7312-2768, Bambino Gesù Children's Hospital), Massimiliano Valeriani (0000-0001-6602-103X, University of Rome Tor Vergata), Luigi Mazzone (0000-0002-5287-3386, University of Rome Tor Vergata), Mariagrazia Cicala (University of Rome Tor Vergata), Leonardo Emberti Gialloreti (0000-0002-3575-1192, University of Rome Tor Vergata), Romina Moavero (0000-0002-6200-060X, University of Rome Tor Vergata)
Year2026
Volume16
Pages1730160-1730160
Publication date2026-01-14
Open AccessYes
TypeARTICLE
VenueFrontiers in Psychiatry (JOURNAL)
Journal identifiersISSN: 1664-0640 • E-ISSN: 1664-0640
PublisherFrontiers Media (PUBLISHER • CH)
DOI10.3389/fpsyt.2025.1730160
PMID41614107
OpenAlexW7123897520
LanguageEN
References cited32

Despite its lack of validation, the TSCQoL scale was established as an exploratory tool that consistently highlighted, along with the PedsQL, clinical factors that most impact quality of life. Quality of life was low in the TSC population, and this was strongly correlated with neuropsychiatric manifestations and epilepsy. Through comparison with idiopathic ASD, we observed a greater impact of the syndromic condition on disease burden

Autism spectrum disorder · Burden of disease · Caregiver burden · Disease · Disease burden · Multiple sclerosis · Population · Quality of life (healthcare · Tuberous sclerosis · Neurofibromatosis and Schwannoma Cases · PI3K/AKT/mTOR signaling in cancer · Tuberous Sclerosis Complex Research

  • Study protocol for the World Health Organization project to develop a Quality of Life assessment instrument (WHOQOL)

    Open Access•WHOQOL Group•Quality of Life Research•1993

  • PedsQLTM 4.0

    James W Varni, Michael Seid et al.•Medical Care•2001

Highly citedNo

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