Apneas observed in trisomy 18 neonates should be differentiated from epileptic apneas

Fukasawa, Toshio; Tanaka, Masaharu; Asada, Hideyuki; Matsusawa, Kaname; Hattori, Tetsuo; Kato, Yuichi; Negoro, Tamiko

doi:10.1002/ajmg.a.36929

Cited by 10 publications

(14 citation statements)

References 9 publications

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“…Infants with trisomy 18 have been reported to experience epilepsy‐associated apnea during the neonatal period . In agreement with these results, our study showed that four of five patients with epilepsy started presenting with apnea from early infancy.…”

Section: Discussionsupporting

confidence: 91%

“…Infants with trisomy 18 have been reported to experience epilepsy-associated apnea during the neonatal period. 16,17 In agreement with these results, our study showed that four of five patients with epilepsy started presenting with apnea from early infancy. We further observed that both apnea and convulsive seizures were favourably controlled with peroral administration of antiepileptics.…”

Section: Discussionsupporting

confidence: 90%

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Management of apnea in infants with trisomy 18

Taira

Inoue

Sawano

et al. 2019

Develop Med Child Neuro

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This case series aimed to characterize the clinical features, management, and outcomes of apnea in infants with trisomy 18. Participants in this study were infants with trisomy 18 who were born alive and admitted to the neonatal intensive care unit in Kyushu University Hospital from 2000 to 2018. Retrospective analysis was performed on clinical data recorded in our department. Twenty‐seven infants with trisomy 18 were admitted to our hospital during the study period, of which 25 (nine males, 16 females) were enrolled as eligible participants in this study. Among them, 14 started presenting with apnea from median 3.5 days of age (range 0–47d). In these infants with apnea, eight received respiratory support of positive pressure ventilation (PPV). The 1‐year survival rate of infants in the PPV group was higher than that of non‐PPV‐supported infants (5 out of 8 vs 0 out of 6 infants). Five PPV‐supported infants received a diagnosis of epilepsy, which was controlled by antiepileptic drugs. Postnatal respiratory intervention provides better prognosis in infants with trisomy 18. Improved survival leads to accurate diagnosis and treatment of apneic events in association with epilepsy. What this paper adds Respiratory support is effective against apnea in infants with trisomy 18. Intervention with ventilation provides a higher chance of prolonged survival. Improved survival leads to the accurate diagnosis and treatment of epilepsy‐associated apnea.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 90%

Management of apnea in infants with trisomy 18

Taira

Inoue

Sawano

et al. 2019

Develop Med Child Neuro

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“…Yet, in a small case series of infants with T18 and known apnea, positive pressure ventilation was associated with improved survival (Taira et al, 2020). Fukasawa et al showed that some apneas are related to seizures, which improve with anti‐epileptic drugs (Fukasawa et al, 2015) and would otherwise not improve with invasive measures such as positive pressure ventilation. Uncovering the etiology for respiratory failure in T13 and T18 will clarify the predictive role of mechanical ventilation and tracheostomy in survival.…”

Section: Discussionmentioning

confidence: 99%

A validated model for prediction of survival to 6 months in patients with trisomy 13 and 18

Kosiv

Long

Lee

et al. 2021

American J of Med Genetics Pt A

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Congenital heart disease is exceedingly prevalent in trisomy 13 and 18. Improved survival following congenital heart surgery has been reported, however, mortality remains significantly elevated. Utilizing inpatient data on trisomy 13 and 18 from the 2003–2016 Pediatric Health Information System database, a survival model was developed and validated using data from the California Perinatal Quality Care Collaborative and the California Office of Statewide Health Planning and Development. The study cohort included 1,761 infants with trisomy 13 and 18. Two models predicting survival to 6 months of age were developed and tested. The initial model performed excellently, with a c‐statistic of 0.87 and a c‐statistic of 0.76 in the validation cohort. After excluding procedures performed on the day of death, the revised model's c‐statistic was 0.76. Certain variables, including cardiac surgery, gastrostomy, parenteral nutrition, and mechanical ventilation, are predictive of survival to 6 months of age. This study presents a model, which potentially can inform decision‐making regarding congenital heart surgery.

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“…While epilepsy can be present in trisomy 18 patients, epileptic apneas only present in less than 10% of all trisomy 18 patients (Kumada et al, 2013). Regardless, this should also be considered when treating apnea in these patients (Fukasawa et al, 2015; Kumada et al, 2013). A recent study of infants with trisomy 18 demonstrated that five of eight patients who required positive pressure ventilation were diagnosed with seizures as a contributor to their apnea (Taira et al, 2020).…”

Section: Complications Of Trisomy 18mentioning

confidence: 99%

Surveillance guidelines for children with trisomy 18

Kepple

Fishler

Peeples

2021

American J of Med Genetics Pt A

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Trisomy 18 is the second most common aneuploidy syndromes in live born infants. It is associated with high mortality rates, estimated to be 75%–95% in the first year of life, as well as significant morbidity in survivors. The low survival is largely due to the high prevalence of severe congenital anomalies in infants with this diagnosis. However, interventions to repair or palliate those life‐threatening anomalies are being performed at a higher rate for these infants, resulting in increased rates of survival beyond the first year of life. While it is well documented that trisomy 18 is associated with several cardiac malformations, these patients also have respiratory, neurological, neoplastic, genitourinary, abdominal, otolaryngologic, and orthopedic complications that can impact their quality of life. The goal of this review is to present a comprehensive description of complications in children with trisomy 18 to aid in the development of monitoring and treatment guidelines for the increasing number of providers who will be caring for these patients throughout their lives. Where the evidence is available, this review presents screening recommendations to allow for more rapid detection and documentation of these complications.

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Apneas observed in trisomy 18 neonates should be differentiated from epileptic apneas

Cited by 10 publications

References 9 publications

Management of apnea in infants with trisomy 18

Management of apnea in infants with trisomy 18

A validated model for prediction of survival to 6 months in patients with trisomy 13 and 18

Surveillance guidelines for children with trisomy 18

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