Polysomnographic study in pediatric neurofibromatosis type 1
BackgroundNeurofibromatosis 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).MethodsA 100 pre-pubertal child...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-07-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2023.1213430/full |
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| author | Marco Carotenuto Giovanni Messina Maria Esposito Claudia Santoro Claudia Santoro Diego Iacono Diego Iacono Karen Spruyt |
| author_facet | Marco Carotenuto Giovanni Messina Maria Esposito Claudia Santoro Claudia Santoro Diego Iacono Diego Iacono Karen Spruyt |
| author_sort | Marco Carotenuto |
| collection | DOAJ |
| description | BackgroundNeurofibromatosis 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).MethodsA 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.ResultsNeurofibromatosis 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.ConclusionThe 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. |
| first_indexed | 2024-03-12T23:07:43Z |
| format | Article |
| id | doaj.art-89fcf701e6fb4388bc65c8005da7694f |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-03-12T23:07:43Z |
| publishDate | 2023-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-89fcf701e6fb4388bc65c8005da7694f2023-07-18T10:14:30ZengFrontiers Media S.A.Frontiers in Neurology1664-22952023-07-011410.3389/fneur.2023.12134301213430Polysomnographic study in pediatric neurofibromatosis type 1Marco Carotenuto0Giovanni Messina1Maria Esposito2Claudia Santoro3Claudia Santoro4Diego Iacono5Diego Iacono6Karen Spruyt7Sleep 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, ItalyDepartment of Clinical and Experimental Medicine, University of Foggia, Foggia, ItalySleep 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, ItalySleep 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, ItalyDepartment of Women's and Children's Health, and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Naples, ItalyNeuropathology Research, Biomedical Research Institute of New Jersey, BRInj, Cedar Knolls, NJ, United StatesDepartment of Pediatrics, Neuropathology Research, Mid-Atlantic Neonatology Associates (MANA), Atlantic Health System (AHS), Morristown, NJ, United StatesNeuroDiderot INSERM, Université de Paris, Paris, FranceBackgroundNeurofibromatosis 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).MethodsA 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.ResultsNeurofibromatosis 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.ConclusionThe 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.https://www.frontiersin.org/articles/10.3389/fneur.2023.1213430/fullpediatric neurofibromatosis type 1sleeppolysomnographysleep durationrare disease |
| spellingShingle | Marco Carotenuto Giovanni Messina Maria Esposito Claudia Santoro Claudia Santoro Diego Iacono Diego Iacono Karen Spruyt Polysomnographic study in pediatric neurofibromatosis type 1 Frontiers in Neurology pediatric neurofibromatosis type 1 sleep polysomnography sleep duration rare disease |
| title | Polysomnographic study in pediatric neurofibromatosis type 1 |
| title_full | Polysomnographic study in pediatric neurofibromatosis type 1 |
| title_fullStr | Polysomnographic study in pediatric neurofibromatosis type 1 |
| title_full_unstemmed | Polysomnographic study in pediatric neurofibromatosis type 1 |
| title_short | Polysomnographic study in pediatric neurofibromatosis type 1 |
| title_sort | polysomnographic study in pediatric neurofibromatosis type 1 |
| topic | pediatric neurofibromatosis type 1 sleep polysomnography sleep duration rare disease |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2023.1213430/full |
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