{
  "abstract": "Background Early obesity is a major clinical feature of Bardet-Biedl Syndrome (BBS 1) due in part to the associated hyperphagia. The significant burden associated with hyperphagia is well recognized.2–4 However, hyperphagia is highly subjective potentially leading to underreporting. The lack of a standardised assessment tool to quantify the impact of hyperphagia for children and their family attending our national service was recognised. New drug treatment targeting hyperphagia in BBS heightened the need for effective and consistent assessment of hyperphagia in this cohort.Methods Questionnaires were developed in partnership with our clinic population; with questions initially tested at the BBS family conference. Caregivers of 85 children received access to a SmartSurvey between October 2024 and January 2025 to allow anonymised data collection to collate baseline data and review severity scoring. Exclusion criteria: <2 years, >18 years, looked after children, unconfirmed diagnosis, additional genetic diagnosis and living outside the UK unless attending clinic in the survey period.Results 27 completed surveys received (32% response rate). Hyperphagia was experienced by 21/27 (78%) children. Hyperphagia was reported to start early < 2 years by 8/21 (38%). 17/21 (81%) reported hyperphagia as an ongoing issue. Food cravings were a significant issue for all; but this prevented going out/attendance at social events in 3/17 (18%) significantly impacting quality of life for these families.Conclusion Hyperphagia starts early and is a significant issue for our population. The caregiver questionnaire accurately identifies hyperphagia; adjustments to scoring have been made following this service evaluation to allow better identification of severe hyperphagia. The introduction of this standardised tool at both paediatric national clinic centres allows consistent, non-judgemental identification and assessment of hyperphagia in our patient cohort. This tool is being used successfully to assess the clinical efficacy of hyperphagia drug treatment in our service.Acknowledgements for Funding or Support Thank you to the families that were involved with question testing at the BBS Family Conference 2023. Thank you to BBS UK for working collaboratively to deliver this national service.References Forsythe E, Beales PL. Bardet-biedl syndrome. Eur J Hum Genet. 2013;21(1):8–13.Beales PL, Cetiner M, Haqq AM, Miller J, Shoemaker AH, Valverde D, et al. Hyperphagia in Bardet–biedl syndrome: pathophysiology, burden, and management. Obesity Reviews 2025;26(7): e13915. doi:10.1111/obr.13915Forsythe E, Mallya UG, Yang M, Huber C, Cala ML, Greatsinger A, et al. Burden of hyperphagia and obesity in bardet-biedl syndrome: a multicountry survey. Orphanet J Rare Dis. 2023;18(1):182. doi:10.1186/s13023-023-02723-4Forsythe E, Mallya UG, Yang M, Huber C, Cala ML, Greatsinger A, et al. Caregiver burden in bardet-biedl syndrome: findings from the CARE-BBS study. Orphanet J Rare Dis. 2023;18(1):181. doi:10.1186/s13023-023-02692-8",
  "authors": [
    {
      "affiliations": [
        "Great Ormond Street Hospital for Children NHS Foundation Trust, UK"
      ],
      "name": "Sarah Flack"
    },
    {
      "affiliations": [
        "Great Ormond Street Hospital for Children NHS Foundation Trust, UK"
      ],
      "name": "Kathryn Sparks"
    },
    {
      "affiliations": [
        "BBS UK, UK"
      ],
      "name": "Angela Scudder"
    },
    {
      "affiliations": [
        "Great Ormond Street Hospital for Children NHS Foundation Trust, UK"
      ],
      "name": "Lauren Cheng"
    },
    {
      "affiliations": [
        "Great Ormond Street Hospital for Children NHS Foundation Trust, UK and St Thomas’ Hospital, UK"
      ],
      "name": "Elizabeth Forsythe"
    },
    {
      "affiliations": [
        "Great Ormond Street Hospital for Children NHS Foundation Trust, UK"
      ],
      "name": "Phil Beales"
    }
  ],
  "title": "116 Improving hyperphagia assessment in Bardet-Biedl Syndrome",
  "uid": "f466f7fa-a6e1-50f5-83f4-d5d4a199a627"
}