{
  "abstract": "Background Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare genetic disorder impairing cerebral glucose transport, leading to variable neurological symptoms in which adult care remains underexplored. This study aims to characterise adult phenotypes, identify unmet needs and inform a person-centred care model.Methods 32 adults with genetically confirmed GLUT1DS were retrospectively evaluated at two centres in Milan, Italy. Clinical history, diagnostic data, treatment and follow-up information were systematically collected. 19 patients underwent extended assessments including cognitive, neuropsychiatric, sleep, adaptive functioning and quality of life evaluations. Nine also participated in psychological interviews.Results The cohort included 68.8% female (median age: 32 years). Median age at symptom onset was 2 years, with a diagnostic delay of 18 years. 62% of individuals received a diagnosis in adulthood, with 31% diagnosed only after their child was identified. Except for two cases, all exhibited in their clinical history typical GLUT1DS symptoms that were either unrecognised or too mild to prompt medical attention. Psychosocial health issues were identified in 42% of cases, with emotional disturbances affecting 53% and social life impairments in 42%; physical health concerns in 32%.Conclusions Diagnostic delay in adults with GLUT1DS is more likely due to limited clinical awareness than to atypical presentations. The most effective model of care for individuals with GLUT1DS might be multidisciplinary involving paediatric and adult neurologists, rehabilitation professionals, clinical psychologists, clinical nutritionists and dietitians to support motor, cognitive and emotional functioning, thereby promoting autonomy, improving quality of life and addressing challenges associated with ketogenic diet adherence.",
  "authors": [
    {
      "affiliations": [
        "Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Lombardy, Italy",
        "Pediatric Neurology Unit, Vittore Buzzi Children’s Hospital, Milan, Lombardia, Italy"
      ],
      "name": "Roberto Previtali"
    },
    {
      "affiliations": [
        "University of Milan, Milan, Lombardy, Italy"
      ],
      "name": "Lara Adami"
    },
    {
      "affiliations": [
        "University of Milan, Milan, Lombardy, Italy"
      ],
      "name": "Chiara Benvenuto"
    },
    {
      "affiliations": [
        "University of Milan, Milan, Lombardy, Italy"
      ],
      "name": "Luca Gianola"
    },
    {
      "affiliations": [
        "Epilepsy Unit - Sleep Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Lombardy, Italy"
      ],
      "name": "Camilla Segarizzi"
    },
    {
      "affiliations": [
        "Unit of Rare Neurological Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Lombardy, Italy",
        "PhD Programme in Translational Medicine, University of Milan, Milan, Lombardy, Italy"
      ],
      "name": "Chiara Benzoni"
    },
    {
      "affiliations": [
        "Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Full member of European Reference Network EPIcare, Milan, Lombardy, Italy"
      ],
      "name": "Tiziana Granata"
    },
    {
      "affiliations": [
        "Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Lombardy, Italy",
        "Pediatric Neurology Unit, Vittore Buzzi Children’s Hospital, Milan, Lombardia, Italy"
      ],
      "name": "Pierangelo Veggiotti"
    },
    {
      "affiliations": [
        "Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Full member of European Reference Network EPIcare, Milan, Lombardy, Italy"
      ],
      "name": "Francesca Ragona"
    }
  ],
  "title": "GLUT1 deficiency syndrome in adulthood: lost in diagnosis",
  "uid": "f8b9fc76-2748-5d59-8d26-a8b141dcf5aa"
}