Polysomnographic study in pediatric neurofibromatosis type 1

Marco Carotenuto; Giovanni Messina; Maria Esposito; Claudia Santoro; Diego Iacono; Karen Spruyt

doi:10.3389/fneur.2023.1213430

Polysomnographic study in pediatric neurofibromatosis type 1

Front Neurol. 2023 Jul 18:14:1213430. doi: 10.3389/fneur.2023.1213430. eCollection 2023.

Authors

Marco Carotenuto¹, Giovanni Messina², Maria Esposito¹, Claudia Santoro^{1

3}, Diego Iacono^{4

5}, Karen Spruyt⁶

Affiliations

¹ Sleep Lab for Developmental Age, Clinic of Child and Adolescent Neuropsychiatry, Department of Mental and Physical Health and Preventive Medicine, Child and Adolescent Neuropsychiatry Clinic, University of Campania "Luigi Vanvitelli", Naples, Italy.
² Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.
³ Department of Women's and Children's Health, and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Naples, Italy.
⁴ Neuropathology Research, Biomedical Research Institute of New Jersey, BRInj, Cedar Knolls, NJ, United States.
⁵ Department of Pediatrics, Neuropathology Research, Mid-Atlantic Neonatology Associates (MANA), Atlantic Health System (AHS), Morristown, NJ, United States.
⁶ NeuroDiderot INSERM, Université de Paris, Paris, France.

Abstract

Background: Neurofibromatosis type 1 (NF1) is a genetic disease that alters neurodevelopment. We aimed to analyze the sleep macrostructure of a sample of children affected by NF1 without neurocognitive co-morbidities and MRI reports of unidentified bright objects (UBOs).

Methods: A 100 pre-pubertal children participated in the cross-sectional study: 50 subjects were children diagnosed with NF1 and 50 subjects were typically developing healthy children (TDC). All participants underwent polysomnographic evaluation through which conventional sleep parameters were collected: Total sleep time (TST), Sleep latency (SOL), first REM latency (FRL), number of stage shifts/h (SS/h), number of awakenings/h (AWN/h), wake after sleep onset (WASO%), sleep efficiency percentage (SE%), percentage of sleep time spent in sleep stages 1 (N1%) and 2 (N2%), slow-wave sleep (N3%), and REM sleep (REM%). Additionally, nocturnal respiratory events such as apnea/hypopnea index (AHI), oxygen desaturation index (ODI), and periodic limb movement index (PLMI) were recorded.

Results: Neurofibromatosis type 1 children showed a reduction in sleep duration parameters (TST; p < 0.001), sleep efficiency (SE%; p < 0.001), and stage N2% (p < 0.001). Moreover, the number of awakenings per hour (AWN/h), wake after sleep onset (WASO%), and respiratory events such as AHI, ODI, and PLMI resulted higher in NF1 vs. TDC children.

Conclusion: The data showed that the sleep macrostructure differs between NF1 and TDC children. These findings suggest that the evaluation of sleep may provide useful support in corroborating the diagnosis and offers additional therapeutic management perspectives in NF1 and genetic neurodevelopmental disorders in general.

Keywords: pediatric neurofibromatosis type 1; polysomnography; rare disease; sleep; sleep duration.