Esta página foi traduzida automaticamente e a precisão da tradução não é garantida. Por favor, consulte o versão em inglês para um texto fonte.

Developing a Tailored Neuropsychological Rehabilitation for Sturge-Weber Syndrome (NPS-SWS)

15 de junho de 2026 atualizado por: Laura Piccardi, University of Roma La Sapienza

Exploring the Neuropsychological Profile of Sturge-Weber Syndrome for Developing Tailored Rehabilitation.

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.

Visão geral do estudo

Status

Recrutamento

Condições

Sturge - Síndrome de Weber (SWS)

Tipo de estudo

Observacional

Inscrição (Estimado)

Contactos e Locais

Esta seção fornece os detalhes de contato para aqueles que conduzem o estudo e informações sobre onde este estudo está sendo realizado.

Contato de estudo

Nome: Laura Piccardi, PhD
Número de telefone: +39 06 49917527
E-mail: laura.piccardi@uniroma1.it

Locais de estudo

Itália
- Roma
  - Roma, Roma, Itália, 00185
    - Recrutamento
    - Department of Psychology University of Rome
    - Contato:
      
      Laura Piccardi, PhD
      
      Número de telefone: +39 06 49917527
      
      E-mail: laura.piccardi@uniroma1.it

Critérios de participação

Os pesquisadores procuram pessoas que se encaixem em uma determinada descrição, chamada de critérios de elegibilidade. Alguns exemplos desses critérios são a condição geral de saúde de uma pessoa ou tratamentos anteriores.

Critérios de elegibilidade

Idades elegíveis para estudo

Filho
Adulto
Adulto mais velho

Aceita Voluntários Saudáveis

Não

Método de amostragem

Amostra Não Probabilística

População do estudo

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

Descrição

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

Plano de estudo

Esta seção fornece detalhes do plano de estudo, incluindo como o estudo é projetado e o que o estudo está medindo.

Como o estudo é projetado?

Detalhes do projeto

O que o estudo está medindo?

Medidas de resultados primários

Medida de resultado	Descrição da medida	Prazo
1. Composite neuropsychological profile across visuospatial, working memory, and executive function domains Prazo: At baseline assessment	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)	At baseline assessment

Medidas de resultados secundários

Medida de resultado	Descrição da medida	Prazo
2. Composite cognitive, linguistic, and academic functioning profile in Sturge-Weber Syndrome Prazo: At baseline assessment	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)	At baseline assessment

Colaboradores e Investigadores

É aqui que você encontrará pessoas e organizações envolvidas com este estudo.

Patrocinador

University of Roma La Sapienza

Colaboradores

IRCCS San Raffaele Roma

Fondazione Telethon

Investigadores

Investigador principal: Laura Piccardi, PhD, University of Roma La Sapienza

Datas de registro do estudo

Essas datas acompanham o progresso do registro do estudo e os envios de resumo dos resultados para ClinicalTrials.gov. Os registros do estudo e os resultados relatados são revisados pela National Library of Medicine (NLM) para garantir que atendam aos padrões específicos de controle de qualidade antes de serem publicados no site público.

Datas Principais do Estudo

Início do estudo (Estimado)

10 de junho de 2026

Conclusão Primária (Estimado)

1 de julho de 2026

Conclusão do estudo (Estimado)

1 de novembro de 2026

Datas de inscrição no estudo

Enviado pela primeira vez

4 de junho de 2026

Enviado pela primeira vez que atendeu aos critérios de CQ

15 de junho de 2026

Primeira postagem (Real)

17 de junho de 2026

Atualizações de registro de estudo

Última Atualização Postada (Real)