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:

• What are the specific cognitive strengths and weaknesses in visuospatial abilities, working memory, and executive functions in individuals with SWS?
• What is the detailed neuropsychological profile of patients with SWS who do not have intellectual disability?
• Are there different cognitive-behavioral phenotypes between patients with and without the characteristic facial port-wine stain (PWS)?
• How do clinical variables such as seizure history and brain involvement patterns relate to specific cognitive deficits?

Participants will undergo a comprehensive neuropsychological assessment battery that includes:

• Intellectual functioning tests (K-BIT2) to measure verbal and non-verbal intelligence
• Executive function evaluation (BRIEF2) assessing behavioral regulation, emotional regulation, and cognitive regulation
• Language assessment including receptive vocabulary (PPVT) and grammatical comprehension (TCGB-2)
• Visuospatial skills testing (Beery-Buktenica VMI) evaluating visual-motor integration
• Working memory assessment (WISC-IV/WAIS-IV digit span and spatial span subtests)
• Learning abilities evaluation including reading (Battery for the Assessment of - Developmental Dyslexia and Dysorthography), writing, and mathematical skills (ABCA test)
• Additional assessments for attention, verbal memory, and spatial memory as needed

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.

Inclusion Criteria:

• Confirmed diagnosis of Sturge-Weber Syndrome (SWS) of any type (Type I, Type II, or Type III) based on clinical and/or neuroimaging findings
• Age 2 years or older at the time of enrollment (children, adolescents, and adults are eligible)
• Ability to cooperate with neuropsychological testing procedures
• Willingness to complete all study assessments within the designated timeframe

Exclusion Criteria:

• Absence of confirmed Sturge-Weber Syndrome (SWS)
• Age younger than 2 years at the time of enrollment
• Inability to cooperate with neuropsychological testing procedures even with accommodations or modifications

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