Authors :
Presenting Author: Nathan Cohen, MD – Children's National Hospital
Xiaotong Li, BS – Children's National Hospital
Madison Berl, PhD – Children's National Hospital
Chima Oluigbo, MD – Children's National Hospital, George Washington University
Hiroki Shirozu, MD, PhD – Nishiniigata Chuo Hospital
Samuel Berkovic, MD – Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia
Margaret Zacharin, OAM, MBBS, D.Med.Sci – University of Melbourne
Wirginia Maixner, MBBS – The Royal Children's Hospital, Melbourne
Andreas Schulze-Bonhage, MD, PhD – University of Freiburg
Kerstin Klotz, MD – University of Freiburg
Nicola Specchio, MD, PhD, FRCP – Bambino Gesù Children’s Hospital, IRCCS, Member of the ERN EpiCARE; University Hospitals KU
Sarah Ferrand-Sorbets, MD – Rothschild Foundation Hospital
Christine Bulteau, MD, PhD – Rothschild Foundation Hospital
Alexis Arzimanoglou, MD – San Juan de Dios Children’s Hospital, Member of the ERN EpiCARE, Universitat de Barcelona
Jean Regis, MD – Aix-Marseille Université
J. Helen Cross, M.B., Ch.B., PhD – University College London NIHR BRC Great Ormond Street Institute of Child Health
Martin Tisdall, MBBS, MD – Great Ormond Street Hospital
Hanna Richardson, BMBCh MA – Great Ormond Street Hospital
Arthur Cukiert, MD, PhD – São Paulo Epilepsy Clinic
Julia Jacobs-Levan, MD, PhD – University of Calgary
Elizabeth Donner, MD, FRCPC – Comprehensive Epilepsy Program, Division of Neurology, Hospital for Sick Children
Phillip Pearl, MD – Boston Children's Hospital & Harvard Medical School
John Kerrigan, MD – Barrow Neurological Institute at Phoenix Children's Hospital
Angus Wilfong, MD – Barrow Neurological Institute at Phoenix Children's Hospital
Kevin Yuen, MD, FRCP (UK), FACE – Barrow Neurological Institute
Dennis Dlugos, MD, MSCE – Children’s Hospital of Philadelphia (CHOP), Philadelphia, PA, USA
Daniel Curry, MD – Baylor College of Medicine/Texas Children's Hospital
Irfan Ali, MD – Baylor College of Medicine/Texas Children's Hospital
John Ragheb, MD – Nicklaus Children's Hospital
Lisa Soeby, MBA – Hope for Hypothalamic Hamartomas
Erica Webster, BS – Hope for Hypothalamic Hamartomas
William Gaillard, MD – Children's National Hospital
Rationale:
Hypothalamic hamartomas (HH) are rare brain lesions associated with gelastic seizures. neuropsychiatric and endocrine comorbidities. Due to the complexity of diagnosis and treatment, a consensus-driven approach is essential to guide clinical decision-making. This study aimed to establish expert consensus on the evaluation and management of HH using a modified Delphi methodology across international epilepsy centers.Methods:
A modified Delphi survey was conducted among 24 invited international ILAE Level II epilepsy centers. 32 specialists from 17 centers participated: neurologists (n = 4), pediatric neurologists (n = 8), neurosurgeons (n = 12), neuropsychologists (n = 4), an endocrinologist (n = 1), neuroradiologists (n = 3), and 1 additional specialist. The survey included 257 questions in Round 1 and 81 refined questions in Round 2, covering domains of diagnosis, imaging, medical and surgical treatment, neuropsychological and psychiatric evaluation, and care. Consensus was defined as ≥75% agreement. Questions with 55–74% agreement were revised and re-evaluated in Round 2. A 9-point Likert scale was clustered for analysis as: 1–3 indicating “important/necessary,” 4–6 indicating “no consensus,” and 7–9 indicating “not important/unnecessary.”Results:
Consensus was achieved on 82% of the questions. Key findings include:
Diagnosis: Gelastic and dacrystic seizures were strongly associated with HH; MRI with a 3T epilepsy protocol was deemed essential.
Evaluation: Preoperative neuropsychological and endocrinological assessments were considered important.
Treatment: A plurality (not consensus) recommended oxcarbazepine/carbamazepine or levetiracetam/brivaracetam as 1st-line antiseizure medications (ASM). Surgical evaluation should begin at the start of the 1st ASM, with surgery recommended after failure of two ASMs (disconnection strategies favored). There was little consensus on ablative approaches other than LITT preferred for Delalande II and III HH.
Postoperative Care: MRI follow-up at 6–12 months recommended. Cognitive, behavioral, and psychosocial evaluations were emphasized pre- and post-operatively.
Domains: High importance was placed on evaluating IQ, language, attention, executive function, academic achievement, adaptive function, and behavior (tantrums, rage, anxiety, depression).
Conclusions:
This Delphi process highlights an international consensus on aspects of HH management. Agreement included the importance of gelastic/dacrystic seizures. A 3T epilepsy protocol MRI is essential. Epilepsy surgery evaluation should be considered early. Surgery should be pursued either by disconnective, ablative or resective techniques. HH location, size, and surgical experience are essential for good outcomes. LITT preferred for Delalande II or III. Postoperative MRI should be obtained 6-12 months and/or if ongoing seizure. Findings support a multidisciplinary, protocol-driven approach to optimize outcomes in children with HH. Areas lacking consensus, such as specific endocrine testing and timing of certain interventions, warrant further research and standardization.Funding:
NTC is funded by an AAN Career Development Award and the Hess Foundation.