Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy
Background: Spinal muscular atrophy (SMA) is a genetic disorder that may result in neuromuscular weakness and respiratory insufficiency. Gene replacement therapy has changed the trajectory of this condition, but long-term outcomes related to sleep disordered breathing are not known.Methods: This was...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Chiang, Jackie [verfasserIn] Xiao, Lena [verfasserIn] Nigro, Elisa [verfasserIn] St-Laurent, Aaron [verfasserIn] Weinstock, Lauren [verfasserIn] Law, Eugenia [verfasserIn] Janevski, Joanna [verfasserIn] Kuyntjes, Sarah [verfasserIn] Cithiravel, Nisha [verfasserIn] Tran, Tuyen [verfasserIn] Wolter, Nikolaus E. [verfasserIn] Gonorazky, Hernan [verfasserIn] Amin, Reshma [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2023 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Sleep medicine - Amsterdam [u.a.] : Elsevier, 2000, 111, Seite 161-169 |
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| Übergeordnetes Werk: |
volume:111 ; pages:161-169 |
| DOI / URN: |
10.1016/j.sleep.2023.09.019 |
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| Katalog-ID: |
ELV065150716 |
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| 245 | 1 | 0 | |a Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy |
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| 520 | |a Background: Spinal muscular atrophy (SMA) is a genetic disorder that may result in neuromuscular weakness and respiratory insufficiency. Gene replacement therapy has changed the trajectory of this condition, but long-term outcomes related to sleep disordered breathing are not known.Methods: This was a retrospective review of infants with SMA identified via newborn screening who subsequently received onasemnogene abeparvovec at the Hospital for Sick Children (Ontario, Canada). Polysomnograms were conducted at the time of confirmed diagnosis as well as regularly thereafter.Results: Eleven children (4 female) were identified via newborn screen (7 with 2 copies of the SMN2 gene and 4 with 3 copies of the SMN2 gene) and received onasemnogene abeparvovec at a median age of 3.6 weeks. All eleven infants met criteria for sleep disordered breathing based on their first completed polysomnograms but improved over time. Three infants required respiratory technology, including a premature infant who was prescribed nocturnal supplemental oxygen therapy for central sleep apnea and two symptomatic infants with neuromuscular weakness who required nocturnal noninvasive ventilation. We did not find a correlation between motor scores and polysomnogram parameters.Conclusion: Children treated with onasemnogene abeparvovec have reduced sleep disordered breathing over time. Polysomnograms revealed abnormal parameters in all children, but the clinical significance of these findings was unclear for children who were asymptomatic for sleep disordered breathing or neuromuscular weakness. These results highlight the need to evaluate both motor scores and respiratory symptoms to ensure a holistic evaluation of clinical status. | ||
| 650 | 4 | |a Noninvasive ventilation | |
| 650 | 4 | |a Pediatrics | |
| 650 | 4 | |a Polysomnography | |
| 650 | 4 | |a Sleep apnea syndromes | |
| 650 | 4 | |a Spinal muscular atrophy | |
| 700 | 1 | |a Xiao, Lena |e verfasserin |4 aut | |
| 700 | 1 | |a Nigro, Elisa |e verfasserin |4 aut | |
| 700 | 1 | |a St-Laurent, Aaron |e verfasserin |4 aut | |
| 700 | 1 | |a Weinstock, Lauren |e verfasserin |4 aut | |
| 700 | 1 | |a Law, Eugenia |e verfasserin |4 aut | |
| 700 | 1 | |a Janevski, Joanna |e verfasserin |4 aut | |
| 700 | 1 | |a Kuyntjes, Sarah |e verfasserin |4 aut | |
| 700 | 1 | |a Cithiravel, Nisha |e verfasserin |4 aut | |
| 700 | 1 | |a Tran, Tuyen |e verfasserin |4 aut | |
| 700 | 1 | |a Wolter, Nikolaus E. |e verfasserin |4 aut | |
| 700 | 1 | |a Gonorazky, Hernan |e verfasserin |4 aut | |
| 700 | 1 | |a Amin, Reshma |e verfasserin |0 (orcid)0000-0002-3032-5434 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Sleep medicine |d Amsterdam [u.a.] : Elsevier, 2000 |g 111, Seite 161-169 |h Online-Ressource |w (DE-627)326646949 |w (DE-600)2041737-8 |w (DE-576)105536768 |x 1878-5506 |7 nnns |
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10.1016/j.sleep.2023.09.019 doi (DE-627)ELV065150716 (ELSEVIER)S1389-9457(23)00352-0 DE-627 ger DE-627 rda eng 610 VZ 44.90 bkl Chiang, Jackie verfasserin aut Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Spinal muscular atrophy (SMA) is a genetic disorder that may result in neuromuscular weakness and respiratory insufficiency. Gene replacement therapy has changed the trajectory of this condition, but long-term outcomes related to sleep disordered breathing are not known.Methods: This was a retrospective review of infants with SMA identified via newborn screening who subsequently received onasemnogene abeparvovec at the Hospital for Sick Children (Ontario, Canada). Polysomnograms were conducted at the time of confirmed diagnosis as well as regularly thereafter.Results: Eleven children (4 female) were identified via newborn screen (7 with 2 copies of the SMN2 gene and 4 with 3 copies of the SMN2 gene) and received onasemnogene abeparvovec at a median age of 3.6 weeks. All eleven infants met criteria for sleep disordered breathing based on their first completed polysomnograms but improved over time. Three infants required respiratory technology, including a premature infant who was prescribed nocturnal supplemental oxygen therapy for central sleep apnea and two symptomatic infants with neuromuscular weakness who required nocturnal noninvasive ventilation. We did not find a correlation between motor scores and polysomnogram parameters.Conclusion: Children treated with onasemnogene abeparvovec have reduced sleep disordered breathing over time. Polysomnograms revealed abnormal parameters in all children, but the clinical significance of these findings was unclear for children who were asymptomatic for sleep disordered breathing or neuromuscular weakness. These results highlight the need to evaluate both motor scores and respiratory symptoms to ensure a holistic evaluation of clinical status. Noninvasive ventilation Pediatrics Polysomnography Sleep apnea syndromes Spinal muscular atrophy Xiao, Lena verfasserin aut Nigro, Elisa verfasserin aut St-Laurent, Aaron verfasserin aut Weinstock, Lauren verfasserin aut Law, Eugenia verfasserin aut Janevski, Joanna verfasserin aut Kuyntjes, Sarah verfasserin aut Cithiravel, Nisha verfasserin aut Tran, Tuyen verfasserin aut Wolter, Nikolaus E. verfasserin aut Gonorazky, Hernan verfasserin aut Amin, Reshma verfasserin (orcid)0000-0002-3032-5434 aut Enthalten in Sleep medicine Amsterdam [u.a.] : Elsevier, 2000 111, Seite 161-169 Online-Ressource (DE-627)326646949 (DE-600)2041737-8 (DE-576)105536768 1878-5506 nnns volume:111 pages:161-169 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 Neurologie VZ AR 111 161-169 |
| spelling |
10.1016/j.sleep.2023.09.019 doi (DE-627)ELV065150716 (ELSEVIER)S1389-9457(23)00352-0 DE-627 ger DE-627 rda eng 610 VZ 44.90 bkl Chiang, Jackie verfasserin aut Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Spinal muscular atrophy (SMA) is a genetic disorder that may result in neuromuscular weakness and respiratory insufficiency. Gene replacement therapy has changed the trajectory of this condition, but long-term outcomes related to sleep disordered breathing are not known.Methods: This was a retrospective review of infants with SMA identified via newborn screening who subsequently received onasemnogene abeparvovec at the Hospital for Sick Children (Ontario, Canada). Polysomnograms were conducted at the time of confirmed diagnosis as well as regularly thereafter.Results: Eleven children (4 female) were identified via newborn screen (7 with 2 copies of the SMN2 gene and 4 with 3 copies of the SMN2 gene) and received onasemnogene abeparvovec at a median age of 3.6 weeks. All eleven infants met criteria for sleep disordered breathing based on their first completed polysomnograms but improved over time. Three infants required respiratory technology, including a premature infant who was prescribed nocturnal supplemental oxygen therapy for central sleep apnea and two symptomatic infants with neuromuscular weakness who required nocturnal noninvasive ventilation. We did not find a correlation between motor scores and polysomnogram parameters.Conclusion: Children treated with onasemnogene abeparvovec have reduced sleep disordered breathing over time. Polysomnograms revealed abnormal parameters in all children, but the clinical significance of these findings was unclear for children who were asymptomatic for sleep disordered breathing or neuromuscular weakness. These results highlight the need to evaluate both motor scores and respiratory symptoms to ensure a holistic evaluation of clinical status. Noninvasive ventilation Pediatrics Polysomnography Sleep apnea syndromes Spinal muscular atrophy Xiao, Lena verfasserin aut Nigro, Elisa verfasserin aut St-Laurent, Aaron verfasserin aut Weinstock, Lauren verfasserin aut Law, Eugenia verfasserin aut Janevski, Joanna verfasserin aut Kuyntjes, Sarah verfasserin aut Cithiravel, Nisha verfasserin aut Tran, Tuyen verfasserin aut Wolter, Nikolaus E. verfasserin aut Gonorazky, Hernan verfasserin aut Amin, Reshma verfasserin (orcid)0000-0002-3032-5434 aut Enthalten in Sleep medicine Amsterdam [u.a.] : Elsevier, 2000 111, Seite 161-169 Online-Ressource (DE-627)326646949 (DE-600)2041737-8 (DE-576)105536768 1878-5506 nnns volume:111 pages:161-169 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 Neurologie VZ AR 111 161-169 |
| allfields_unstemmed |
10.1016/j.sleep.2023.09.019 doi (DE-627)ELV065150716 (ELSEVIER)S1389-9457(23)00352-0 DE-627 ger DE-627 rda eng 610 VZ 44.90 bkl Chiang, Jackie verfasserin aut Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Spinal muscular atrophy (SMA) is a genetic disorder that may result in neuromuscular weakness and respiratory insufficiency. Gene replacement therapy has changed the trajectory of this condition, but long-term outcomes related to sleep disordered breathing are not known.Methods: This was a retrospective review of infants with SMA identified via newborn screening who subsequently received onasemnogene abeparvovec at the Hospital for Sick Children (Ontario, Canada). Polysomnograms were conducted at the time of confirmed diagnosis as well as regularly thereafter.Results: Eleven children (4 female) were identified via newborn screen (7 with 2 copies of the SMN2 gene and 4 with 3 copies of the SMN2 gene) and received onasemnogene abeparvovec at a median age of 3.6 weeks. All eleven infants met criteria for sleep disordered breathing based on their first completed polysomnograms but improved over time. Three infants required respiratory technology, including a premature infant who was prescribed nocturnal supplemental oxygen therapy for central sleep apnea and two symptomatic infants with neuromuscular weakness who required nocturnal noninvasive ventilation. We did not find a correlation between motor scores and polysomnogram parameters.Conclusion: Children treated with onasemnogene abeparvovec have reduced sleep disordered breathing over time. Polysomnograms revealed abnormal parameters in all children, but the clinical significance of these findings was unclear for children who were asymptomatic for sleep disordered breathing or neuromuscular weakness. These results highlight the need to evaluate both motor scores and respiratory symptoms to ensure a holistic evaluation of clinical status. Noninvasive ventilation Pediatrics Polysomnography Sleep apnea syndromes Spinal muscular atrophy Xiao, Lena verfasserin aut Nigro, Elisa verfasserin aut St-Laurent, Aaron verfasserin aut Weinstock, Lauren verfasserin aut Law, Eugenia verfasserin aut Janevski, Joanna verfasserin aut Kuyntjes, Sarah verfasserin aut Cithiravel, Nisha verfasserin aut Tran, Tuyen verfasserin aut Wolter, Nikolaus E. verfasserin aut Gonorazky, Hernan verfasserin aut Amin, Reshma verfasserin (orcid)0000-0002-3032-5434 aut Enthalten in Sleep medicine Amsterdam [u.a.] : Elsevier, 2000 111, Seite 161-169 Online-Ressource (DE-627)326646949 (DE-600)2041737-8 (DE-576)105536768 1878-5506 nnns volume:111 pages:161-169 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 Neurologie VZ AR 111 161-169 |
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10.1016/j.sleep.2023.09.019 doi (DE-627)ELV065150716 (ELSEVIER)S1389-9457(23)00352-0 DE-627 ger DE-627 rda eng 610 VZ 44.90 bkl Chiang, Jackie verfasserin aut Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Spinal muscular atrophy (SMA) is a genetic disorder that may result in neuromuscular weakness and respiratory insufficiency. Gene replacement therapy has changed the trajectory of this condition, but long-term outcomes related to sleep disordered breathing are not known.Methods: This was a retrospective review of infants with SMA identified via newborn screening who subsequently received onasemnogene abeparvovec at the Hospital for Sick Children (Ontario, Canada). Polysomnograms were conducted at the time of confirmed diagnosis as well as regularly thereafter.Results: Eleven children (4 female) were identified via newborn screen (7 with 2 copies of the SMN2 gene and 4 with 3 copies of the SMN2 gene) and received onasemnogene abeparvovec at a median age of 3.6 weeks. All eleven infants met criteria for sleep disordered breathing based on their first completed polysomnograms but improved over time. Three infants required respiratory technology, including a premature infant who was prescribed nocturnal supplemental oxygen therapy for central sleep apnea and two symptomatic infants with neuromuscular weakness who required nocturnal noninvasive ventilation. We did not find a correlation between motor scores and polysomnogram parameters.Conclusion: Children treated with onasemnogene abeparvovec have reduced sleep disordered breathing over time. Polysomnograms revealed abnormal parameters in all children, but the clinical significance of these findings was unclear for children who were asymptomatic for sleep disordered breathing or neuromuscular weakness. These results highlight the need to evaluate both motor scores and respiratory symptoms to ensure a holistic evaluation of clinical status. Noninvasive ventilation Pediatrics Polysomnography Sleep apnea syndromes Spinal muscular atrophy Xiao, Lena verfasserin aut Nigro, Elisa verfasserin aut St-Laurent, Aaron verfasserin aut Weinstock, Lauren verfasserin aut Law, Eugenia verfasserin aut Janevski, Joanna verfasserin aut Kuyntjes, Sarah verfasserin aut Cithiravel, Nisha verfasserin aut Tran, Tuyen verfasserin aut Wolter, Nikolaus E. verfasserin aut Gonorazky, Hernan verfasserin aut Amin, Reshma verfasserin (orcid)0000-0002-3032-5434 aut Enthalten in Sleep medicine Amsterdam [u.a.] : Elsevier, 2000 111, Seite 161-169 Online-Ressource (DE-627)326646949 (DE-600)2041737-8 (DE-576)105536768 1878-5506 nnns volume:111 pages:161-169 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 Neurologie VZ AR 111 161-169 |
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10.1016/j.sleep.2023.09.019 doi (DE-627)ELV065150716 (ELSEVIER)S1389-9457(23)00352-0 DE-627 ger DE-627 rda eng 610 VZ 44.90 bkl Chiang, Jackie verfasserin aut Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Spinal muscular atrophy (SMA) is a genetic disorder that may result in neuromuscular weakness and respiratory insufficiency. Gene replacement therapy has changed the trajectory of this condition, but long-term outcomes related to sleep disordered breathing are not known.Methods: This was a retrospective review of infants with SMA identified via newborn screening who subsequently received onasemnogene abeparvovec at the Hospital for Sick Children (Ontario, Canada). Polysomnograms were conducted at the time of confirmed diagnosis as well as regularly thereafter.Results: Eleven children (4 female) were identified via newborn screen (7 with 2 copies of the SMN2 gene and 4 with 3 copies of the SMN2 gene) and received onasemnogene abeparvovec at a median age of 3.6 weeks. All eleven infants met criteria for sleep disordered breathing based on their first completed polysomnograms but improved over time. Three infants required respiratory technology, including a premature infant who was prescribed nocturnal supplemental oxygen therapy for central sleep apnea and two symptomatic infants with neuromuscular weakness who required nocturnal noninvasive ventilation. We did not find a correlation between motor scores and polysomnogram parameters.Conclusion: Children treated with onasemnogene abeparvovec have reduced sleep disordered breathing over time. Polysomnograms revealed abnormal parameters in all children, but the clinical significance of these findings was unclear for children who were asymptomatic for sleep disordered breathing or neuromuscular weakness. These results highlight the need to evaluate both motor scores and respiratory symptoms to ensure a holistic evaluation of clinical status. Noninvasive ventilation Pediatrics Polysomnography Sleep apnea syndromes Spinal muscular atrophy Xiao, Lena verfasserin aut Nigro, Elisa verfasserin aut St-Laurent, Aaron verfasserin aut Weinstock, Lauren verfasserin aut Law, Eugenia verfasserin aut Janevski, Joanna verfasserin aut Kuyntjes, Sarah verfasserin aut Cithiravel, Nisha verfasserin aut Tran, Tuyen verfasserin aut Wolter, Nikolaus E. verfasserin aut Gonorazky, Hernan verfasserin aut Amin, Reshma verfasserin (orcid)0000-0002-3032-5434 aut Enthalten in Sleep medicine Amsterdam [u.a.] : Elsevier, 2000 111, Seite 161-169 Online-Ressource (DE-627)326646949 (DE-600)2041737-8 (DE-576)105536768 1878-5506 nnns volume:111 pages:161-169 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 Neurologie VZ AR 111 161-169 |
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Chiang, Jackie @@aut@@ Xiao, Lena @@aut@@ Nigro, Elisa @@aut@@ St-Laurent, Aaron @@aut@@ Weinstock, Lauren @@aut@@ Law, Eugenia @@aut@@ Janevski, Joanna @@aut@@ Kuyntjes, Sarah @@aut@@ Cithiravel, Nisha @@aut@@ Tran, Tuyen @@aut@@ Wolter, Nikolaus E. @@aut@@ Gonorazky, Hernan @@aut@@ Amin, Reshma @@aut@@ |
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2023-01-01T00:00:00Z |
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610 VZ 44.90 bkl Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy Noninvasive ventilation Pediatrics Polysomnography Sleep apnea syndromes Spinal muscular atrophy |
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Chiang, Jackie Xiao, Lena Nigro, Elisa St-Laurent, Aaron Weinstock, Lauren Law, Eugenia Janevski, Joanna Kuyntjes, Sarah Cithiravel, Nisha Tran, Tuyen Wolter, Nikolaus E. Gonorazky, Hernan Amin, Reshma |
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sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy |
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Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy |
| abstract |
Background: Spinal muscular atrophy (SMA) is a genetic disorder that may result in neuromuscular weakness and respiratory insufficiency. Gene replacement therapy has changed the trajectory of this condition, but long-term outcomes related to sleep disordered breathing are not known.Methods: This was a retrospective review of infants with SMA identified via newborn screening who subsequently received onasemnogene abeparvovec at the Hospital for Sick Children (Ontario, Canada). Polysomnograms were conducted at the time of confirmed diagnosis as well as regularly thereafter.Results: Eleven children (4 female) were identified via newborn screen (7 with 2 copies of the SMN2 gene and 4 with 3 copies of the SMN2 gene) and received onasemnogene abeparvovec at a median age of 3.6 weeks. All eleven infants met criteria for sleep disordered breathing based on their first completed polysomnograms but improved over time. Three infants required respiratory technology, including a premature infant who was prescribed nocturnal supplemental oxygen therapy for central sleep apnea and two symptomatic infants with neuromuscular weakness who required nocturnal noninvasive ventilation. We did not find a correlation between motor scores and polysomnogram parameters.Conclusion: Children treated with onasemnogene abeparvovec have reduced sleep disordered breathing over time. Polysomnograms revealed abnormal parameters in all children, but the clinical significance of these findings was unclear for children who were asymptomatic for sleep disordered breathing or neuromuscular weakness. These results highlight the need to evaluate both motor scores and respiratory symptoms to ensure a holistic evaluation of clinical status. |
| abstractGer |
Background: Spinal muscular atrophy (SMA) is a genetic disorder that may result in neuromuscular weakness and respiratory insufficiency. Gene replacement therapy has changed the trajectory of this condition, but long-term outcomes related to sleep disordered breathing are not known.Methods: This was a retrospective review of infants with SMA identified via newborn screening who subsequently received onasemnogene abeparvovec at the Hospital for Sick Children (Ontario, Canada). Polysomnograms were conducted at the time of confirmed diagnosis as well as regularly thereafter.Results: Eleven children (4 female) were identified via newborn screen (7 with 2 copies of the SMN2 gene and 4 with 3 copies of the SMN2 gene) and received onasemnogene abeparvovec at a median age of 3.6 weeks. All eleven infants met criteria for sleep disordered breathing based on their first completed polysomnograms but improved over time. Three infants required respiratory technology, including a premature infant who was prescribed nocturnal supplemental oxygen therapy for central sleep apnea and two symptomatic infants with neuromuscular weakness who required nocturnal noninvasive ventilation. We did not find a correlation between motor scores and polysomnogram parameters.Conclusion: Children treated with onasemnogene abeparvovec have reduced sleep disordered breathing over time. Polysomnograms revealed abnormal parameters in all children, but the clinical significance of these findings was unclear for children who were asymptomatic for sleep disordered breathing or neuromuscular weakness. These results highlight the need to evaluate both motor scores and respiratory symptoms to ensure a holistic evaluation of clinical status. |
| abstract_unstemmed |
Background: Spinal muscular atrophy (SMA) is a genetic disorder that may result in neuromuscular weakness and respiratory insufficiency. Gene replacement therapy has changed the trajectory of this condition, but long-term outcomes related to sleep disordered breathing are not known.Methods: This was a retrospective review of infants with SMA identified via newborn screening who subsequently received onasemnogene abeparvovec at the Hospital for Sick Children (Ontario, Canada). Polysomnograms were conducted at the time of confirmed diagnosis as well as regularly thereafter.Results: Eleven children (4 female) were identified via newborn screen (7 with 2 copies of the SMN2 gene and 4 with 3 copies of the SMN2 gene) and received onasemnogene abeparvovec at a median age of 3.6 weeks. All eleven infants met criteria for sleep disordered breathing based on their first completed polysomnograms but improved over time. Three infants required respiratory technology, including a premature infant who was prescribed nocturnal supplemental oxygen therapy for central sleep apnea and two symptomatic infants with neuromuscular weakness who required nocturnal noninvasive ventilation. We did not find a correlation between motor scores and polysomnogram parameters.Conclusion: Children treated with onasemnogene abeparvovec have reduced sleep disordered breathing over time. Polysomnograms revealed abnormal parameters in all children, but the clinical significance of these findings was unclear for children who were asymptomatic for sleep disordered breathing or neuromuscular weakness. These results highlight the need to evaluate both motor scores and respiratory symptoms to ensure a holistic evaluation of clinical status. |
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Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy |
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Xiao, Lena Nigro, Elisa St-Laurent, Aaron Weinstock, Lauren Law, Eugenia Janevski, Joanna Kuyntjes, Sarah Cithiravel, Nisha Tran, Tuyen Wolter, Nikolaus E. Gonorazky, Hernan Amin, Reshma |
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