View in EDS HTML Full Text PDF Full Text

The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria.

Saved in:
Bibliographic Details
Title: The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria.
Authors: Cannizzo, Sara (AUTHOR), Quoidbach, Vinciane (AUTHOR), Sheehan‐Gilroy, Bernadette (AUTHOR), Hagedorn, Tobias (AUTHOR), Bak, Agata (AUTHOR), Dickson, Suzanne L. (AUTHOR), Treacy, Eileen P. (AUTHOR), Hermida, Alvaro (AUTHOR), MacDonald, Anita (AUTHOR), Venegas, Eva (AUTHOR), O'Byrne, James (AUTHOR), Scarpa, Maurizio (AUTHOR), Van Spronsen, Francjan (AUTHOR), Lange, Eric (AUTHOR), Buckinx, Tim (AUTHOR), Monavari, Ahmad (AUTHOR), Dahl, Stephan vom (AUTHOR), Trieste, Leopoldo (AUTHOR), Turchetti, Giuseppe (AUTHOR)
Source: European Journal of Neurology. Apr2026, Vol. 33 Issue 4, p1-14. 14p.
Subjects: Phenylketonuria, Digital health, Medical care, Medical communication, COVID-19 pandemic, Patient education, Neurological disorders
Abstract: Introduction: The COVID‐19 pandemic accelerated the adoption of digital health solutions in healthcare. Phenylketonuria (PKU) is a rare condition requiring chronic management and frequent assessments, making it a useful model for examining how digital health tools support patient and caregiver education, communication with healthcare professionals and facilities, and patient care pathways. Methods: Patient representatives and expert clinicians developed qualitative, co‐designed ad hoc surveys during virtual workshops. From October 2023 to March 2024, the surveys were available online through EUSurvey English, Spanish, and German, and distributed to PKU patients in Spain, Germany, and Ireland by national PKU patient associations. Results: The survey co‐design process identified crucial topics significant to key stakeholders in rare disease management. Diverse perspectives emerged on the roles and utility of digital tools: (1) rare disease patients may prefer hybrid care models combining face‐to‐face and digital interactions; (2) digital tools were perceived as particularly useful for supporting information exchange, education, preparation for clinical visits, and patient engagement. Conclusions: This paper examines unmet needs in digital care pathways for PKU from the perspectives of patients, caregivers, and clinicians. Findings provide important insights into the needs of patients with rare diseases and the most effective channels for engaging and communicating with them. Although clinical and cost‐effectiveness were not evaluated, these findings could guide future research and policy discussions on incorporating digital solutions into rare diseases patient care pathways. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: pbh
DbLabel: Psychology and Behavioral Sciences Collection
An: 193256596
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Cannizzo%2C+Sara%22">Cannizzo, Sara</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Quoidbach%2C+Vinciane%22">Quoidbach, Vinciane</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sheehan‐Gilroy%2C+Bernadette%22">Sheehan‐Gilroy, Bernadette</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hagedorn%2C+Tobias%22">Hagedorn, Tobias</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bak%2C+Agata%22">Bak, Agata</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Dickson%2C+Suzanne+L%2E%22">Dickson, Suzanne L.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Treacy%2C+Eileen+P%2E%22">Treacy, Eileen P.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hermida%2C+Alvaro%22">Hermida, Alvaro</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22MacDonald%2C+Anita%22">MacDonald, Anita</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Venegas%2C+Eva%22">Venegas, Eva</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22O'Byrne%2C+James%22">O'Byrne, James</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Scarpa%2C+Maurizio%22">Scarpa, Maurizio</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Van+Spronsen%2C+Francjan%22">Van Spronsen, Francjan</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lange%2C+Eric%22">Lange, Eric</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Buckinx%2C+Tim%22">Buckinx, Tim</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Monavari%2C+Ahmad%22">Monavari, Ahmad</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Dahl%2C+Stephan+vom%22">Dahl, Stephan vom</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Trieste%2C+Leopoldo%22">Trieste, Leopoldo</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Turchetti%2C+Giuseppe%22">Turchetti, Giuseppe</searchLink> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Apr2026, Vol. 33 Issue 4, p1-14. 14p.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Phenylketonuria%22">Phenylketonuria</searchLink><br /><searchLink fieldCode="DE" term="%22Digital+health%22">Digital health</searchLink><br /><searchLink fieldCode="DE" term="%22Medical+care%22">Medical care</searchLink><br /><searchLink fieldCode="DE" term="%22Medical+communication%22">Medical communication</searchLink><br /><searchLink fieldCode="DE" term="%22COVID-19+pandemic%22">COVID-19 pandemic</searchLink><br /><searchLink fieldCode="DE" term="%22Patient+education%22">Patient education</searchLink><br /><searchLink fieldCode="DE" term="%22Neurological+disorders%22">Neurological disorders</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Introduction: The COVID‐19 pandemic accelerated the adoption of digital health solutions in healthcare. Phenylketonuria (PKU) is a rare condition requiring chronic management and frequent assessments, making it a useful model for examining how digital health tools support patient and caregiver education, communication with healthcare professionals and facilities, and patient care pathways. Methods: Patient representatives and expert clinicians developed qualitative, co‐designed ad hoc surveys during virtual workshops. From October 2023 to March 2024, the surveys were available online through EUSurvey English, Spanish, and German, and distributed to PKU patients in Spain, Germany, and Ireland by national PKU patient associations. Results: The survey co‐design process identified crucial topics significant to key stakeholders in rare disease management. Diverse perspectives emerged on the roles and utility of digital tools: (1) rare disease patients may prefer hybrid care models combining face‐to‐face and digital interactions; (2) digital tools were perceived as particularly useful for supporting information exchange, education, preparation for clinical visits, and patient engagement. Conclusions: This paper examines unmet needs in digital care pathways for PKU from the perspectives of patients, caregivers, and clinicians. Findings provide important insights into the needs of patients with rare diseases and the most effective channels for engaging and communicating with them. Although clinical and cost‐effectiveness were not evaluated, these findings could guide future research and policy discussions on incorporating digital solutions into rare diseases patient care pathways. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=193256596
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1111/ene.70575
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 14
        StartPage: 1
    Subjects:
      – SubjectFull: Phenylketonuria
        Type: general
      – SubjectFull: Digital health
        Type: general
      – SubjectFull: Medical care
        Type: general
      – SubjectFull: Medical communication
        Type: general
      – SubjectFull: COVID-19 pandemic
        Type: general
      – SubjectFull: Patient education
        Type: general
      – SubjectFull: Neurological disorders
        Type: general
    Titles:
      – TitleFull: The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Cannizzo, Sara
      – PersonEntity:
          Name:
            NameFull: Quoidbach, Vinciane
      – PersonEntity:
          Name:
            NameFull: Sheehan‐Gilroy, Bernadette
      – PersonEntity:
          Name:
            NameFull: Hagedorn, Tobias
      – PersonEntity:
          Name:
            NameFull: Bak, Agata
      – PersonEntity:
          Name:
            NameFull: Dickson, Suzanne L.
      – PersonEntity:
          Name:
            NameFull: Treacy, Eileen P.
      – PersonEntity:
          Name:
            NameFull: Hermida, Alvaro
      – PersonEntity:
          Name:
            NameFull: MacDonald, Anita
      – PersonEntity:
          Name:
            NameFull: Venegas, Eva
      – PersonEntity:
          Name:
            NameFull: O'Byrne, James
      – PersonEntity:
          Name:
            NameFull: Scarpa, Maurizio
      – PersonEntity:
          Name:
            NameFull: Van Spronsen, Francjan
      – PersonEntity:
          Name:
            NameFull: Lange, Eric
      – PersonEntity:
          Name:
            NameFull: Buckinx, Tim
      – PersonEntity:
          Name:
            NameFull: Monavari, Ahmad
      – PersonEntity:
          Name:
            NameFull: Dahl, Stephan vom
      – PersonEntity:
          Name:
            NameFull: Trieste, Leopoldo
      – PersonEntity:
          Name:
            NameFull: Turchetti, Giuseppe
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: Apr2026
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-print
              Value: 13515101
          Numbering:
            – Type: volume
              Value: 33
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: European Journal of Neurology
              Type: main
ResultId 1