An observational study in Sturge - Weber Syndrome (SWS), sponsored by University of Roma La Sapienza. Recruiting at 1 site in Italy. Open to participants aged 2 Years and older. Per ClinicalTrials.gov, last updated 2026-06-17.
Sponsored by University of Roma La Sapienza · Observational
The goal of this observational study is to learn about the neuropsychological profile of Sturge-Weber Syndrome (SWS) in children and adults with this rare neurocutaneous condition. SWS affects approximately 1 in 50,000 live births and is characterized by brain blood vessel malformations, facial port-wine stains, and abnormal vascularization in the brain, skin, and eyes. Patients are at high risk for epileptic seizures, stroke-like episodes, glaucoma, and motor and cognitive difficulties. The main questions it aims to answer are:
Participants will undergo a comprehensive neuropsychological assessment battery that includes:
The study will recruit SWS patients through collaboration with patient associations and Telethon support. Participants will continue their standard medical care throughout the study, and all medications and therapies will be recorded. The neuropsychological testing will be conducted at IRCCS San Raffaele and Sapienza University Department of Psychology.
The study aims to identify a cognitive-behavioral phenotype for SWS, develop evidence-based guidelines for neuropsychological monitoring, create personalized recommendations for educational adaptations, produce training materials for healthcare professionals and educators, and establish a multidisciplinary framework for supporting individuals with SWS. This research addresses a critical knowledge gap, as previous studies have focused mainly on general intellectual functioning and the prevalence of intellectual disability and language disorders, without providing detailed neuropsychological profiles, particularly for patients without intellectual disability.
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Participants will be recruited through a nationwide network in Italy, primarily through collaboration with the Italian Sturge-Weber Syndrome patient association and support from Fondazione Telethon. The study will be conducted at two primary sites: IRCCS San Raffaele Hospital in Milan and the Department of Psychology at Sapienza University of Rome. Participants include individuals already receiving clinical care for Sturge-Weber Syndrome at specialized neurology and dermatology centers across Italy, as well as individuals identified through patient advocacy organizations. The study aims to recruit a representative sample of the Italian SWS population, including both pediatric patients (children and adolescents) and adults. Given the rarity of SWS (incidence of approximately 0.19 per 100,000 individuals per year), recruitment will occur over an extended period to achieve the target sample size of approximately 40 participants. Outreach will include informational materials distributed
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Exclusion Criteria:
1. Composite neuropsychological profile across visuospatial, working memory, and executive function domains
Assessment of previously uncharacterized cognitive domains in Sturge-Weber Syndrome using three standardized measures administered at baseline: (1) Beery-Buktenica VMI for visuospatial integration; (2) WISC-IV/WAIS-IV Working Memory Index for working memory capacity; (3) BRIEF2 Global Executive Composite for executive functioning. Each measure is scored according to its own normative standard (standard scores Mean=100 SD=15, or T-scores Mean=50 SD=10), then converted to a uniform z-score scale to allow cross-domain comparison and aggregation into a single composite profile score (mean z-score across the three domains). Performance on the composite is classified as impaired (z \< -1.5), borderline (z between -1.5 and -1.0), average (z between -1.0 and +1.0), or above average (z \> +1.0). Unit of Measure: Mean z-score (composite across three domains)
Time frame: At baseline assessment
2. Composite cognitive, linguistic, and academic functioning profile in Sturge-Weber Syndrome
Multidimensional assessment of language, intellectual, and academic functioning using standardized measures administered at baseline. Domains assessed: (1) Language: receptive vocabulary (PPVT) and grammatical comprehension (TCGB-2); (2) General intellectual functioning: K-BIT2 Composite IQ; (3) Academic skills: reading accuracy/speed, writing/spelling accuracy, and mathematical abilities (Battery for Dyslexia/Dysorthographia and ABCA); (4) Supplementary attention and memory when clinically indicated (BVN subtests). All measures are converted to a uniform z-score scale relative to age-based norms and aggregated into a domain-level composite score for each of the four areas above. A global secondary composite (mean z-score across all available domains) summarizes overall functioning. Performance classified as impaired (z \< -1.5), borderline (z between -1.5 and -1.0), average, or above average (z \> +1.0) per domain. Unit of Measure: Mean z-score (composite across domains)
Time frame: At baseline assessment
Start is estimated for Jun 2026; primary completion for Jul 2026, 0 months later.
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