Novel score of autonomic dysregulation in children with hypothalamic syndrome

Nathalie Doelman-Oldenburger; Hermann Muller; Santen Hanneke van

doi:10.1530/endoabs.110.EP1084

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Endocrine Abstracts (2025) 110 EP1084 | DOI: 10.1530/endoabs.110.EP1084

ECEESPE2025 ePoster Presentations Pituitary, Neuroendocrinology and Puberty (220 abstracts)

Novel score of autonomic dysregulation in children with hypothalamic syndrome

Nathalie Doelman-Oldenburger ^1,2 , Hermann Müller ³ & Hanneke van Santen ^1,2

Author affiliations

¹University Medical Center Utrecht, Wilhelmina Children’s Hospital, Department of Pediatric Endocrinology, Utrecht, Netherlands; ²Princess Máxima Center, Utrecht, Netherlands; ³Klinikum Oldenburg AöR, University Children’s Hospital, Carl von Ossietzky Universität Oldenburg, Department of Pediatrics and Pediatric Hematology/Oncology, Oldenburg, Germany

JOINT1204

Objective: Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) is a rare syndrome manifesting in childhood. Diagnosis of ROHHAD syndrome remains challenging due to the diversity of symptoms that may be missed easily, especially for autonomic dysfunction. The diagnostic criteria for the hypothalamic syndrome (HS) (van Santen et al, 2023) are a novel tool for recognizing symptoms of hypothalamic dysfunction. However, symptoms of autonomic dysregulation are lacking in these criteria. They are therefore insufficient for use in ROHHAD patients. No other scoring system for autonomic dysfunction in ROHHAD syndrome exists. We aim to improve the diagnostic criteria for HS by including a score for autonomic dysregulation, supporting early diagnosis of ROHHAD syndrome.

Methods: A score for autonomic dysregulation in ROHHAD syndrome supplementary to the diagnostic criteria for HS was developed based on existing instruments to assess autonomic dysfunction symptoms adjusted for specific symptoms in ROHHAD syndrome, with a score ranging from 0-10. The diagnostic criteria for HS including our add-on were tested retrospectively in 4 ROHHAD patients.

Results: Four ROHHAD patients, median age 9.4 years (range 4.6-25.7), were assessed regarding signs and symptoms of HS and autonomic dysfunction. All patients had HS and scored on at least 3 different domains of autonomic dysregulation. Median score was 7 out of 10 (range 4-9).

Table 1. Suggested add-on score autonomic dysregulation.
Clinical symptoms	Score
Ophthalmological dysfunctionStrabismusOculomotor apraxiaAltered pupil reactions to lightPtosisAltered vision	0-1-2
Altered peripheral vaso- or secretomotor toneIce-cold extremitiesFacial flushing/rednessAberrant sweating Dry mouthDry eyes	0-1-2
Pain threshold Decreased Increased	0-1-2
Gastrointestinal or bladder dysmotilityConstipationDiarrhea Bladder dysfunction	0-1
Cardiovascular manifestationsBlood pressure regulationOrthostatic intolerance Decreased heart rate variabilityArrhythmiaExercise intolerance	0-1-2
Torticollis	0-1
Total (out of 10)
0 = no or normal, 1= yes/minor, 2=major. Total score: 0-3 = no autonomic dysregulation 3-6 = mild autonomic dysregulation 7-10 = severe autonomic dysregulation .

Table 2. Suggested updated hypothalamic score.
Clinical criteria
Hyperphagia
Hypophagia
BMI
Behavior
Sleep
Core temperature regulation
Pituitary function
Autonomic dysregulation
Pre-test probability
Presence of HS (yes/no)
Presence of HS is assessed by combining the clinical criteria using cut-off as presented by van Santen et al* (2023)*.

Conclusions: The diagnostic criteria for HS are not sufficient to recognize autonomic dysfunction due to hypothalamic dysfunction in ROHHAD syndrome. Our add-on score may help in early recognition and follow-up in ROHHAD syndrome and other causes of hypothalamic syndrome.