Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome

Lee, Heerah; Lee, Jung Ae; Lee, H. K.; Lee, Jee-Soo; Ko, Jung Min; Kim, Man Jin; Seong, Moon Woo

doi:10.3343/alm.2023.43.6.638

Cited by 1 publication

(1 citation statement)

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“…Patients experience refractory epilepsy and numerous non‐epileptic manifestations, such as impaired cognition and speech and delayed motor and behavioral development. The proportion of SCN1A mutations in study cohorts is increasing and has recently been reported to be more than 90% 3–5 . Individuals with DS are predisposed to depressed heart rate variability, and mouse models of DS suggest prolonged ictal‐onset bradycardia 6 .…”

Section: Introductionmentioning

confidence: 99%

Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany

Maltseva,

Rosenow,

Schubert‐Bast

et al. 2023

Epilepsia

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ObjectiveThe aim was to investigate the monitoring, interventions, and occurrence of critical, potentially life‐threatening incidents in patients with Dravet syndrome (DS) and caregivers’ knowledge about SUDEP.MethodsThis multicenter, cross‐sectional study of patients with DS and their caregivers in Germany consisted of a questionnaire and prospective diary querying the disease characteristics and demographic data of patients and caregivers.ResultsOur analysis included 108 questionnaires and 82 diaries. Patients with DS were 49.1% male (n = 53), with a mean age of 13.5 ± 10.0 years and primary caregivers were 92.6% (n = 100) female, with a mean age of 44.7 ± 10.6 years. Monitoring devices were used regularly by 75.9% (n = 82) of caregivers, and most monitored daily/nightly. Frequently used devices were pulse oximeters (64.6%), baby monitors (64.6%), thermometers (24.1%), and Epi‐Care® (26.8%). Younger caregiver and patient age and history of status epilepticus were associated with increased use of monitoring, and 81% of monitor‐users reported having avoided a critical incident with nocturnal monitoring. The need for resuscitation due to cardiac or respiratory arrest was reported by 22 (20.4%) caregivers, and most (72.7%) cases were associated with a seizure. Caregivers reported frequently performing interventions at night, including oropharyngeal suction, oxygenation, personal hygiene, and change of body position. Most caregivers were well informed about SUDEP (n = 102; 94%) and monitored for a lateral or supine body position; however, only 39.8% reported receiving resuscitation training, while 52.8% (n = 57) knew what to do in case the child's breathing or heart activity failed.SignificanceCritical incidents and the need for resuscitation are frequently reported by caregivers and may be related to high mortality and SUDEP rates in DS. Resuscitation training is welcomed by caregivers and should be continuously provided. Oxygen monitoring devices are frequently used and considered useful by caregivers.

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Section: Introductionmentioning

confidence: 99%