Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
sleep disturbance/disorders; NCL3; trajectory; characteristics; seizures; loss of vision
Purpose: The aims of this study were to evaluate sleep difficulties in children with neuronal ceroid lipofuscinosis and to determine the association between the sleep difficulties and the onset of seizures and loss of vision.Method: We recruited individuals with a confirmed diagnosis of neuronal ceroid lipofuscinosis. We obtained information from the caregiver using the validated Children's Sleep Habits Questionnaire which is a sleep instrument for both behaviorally and medically based problems. Additional information was collected including onset of symptoms, treatment trials, and screen for restless leg syndrome symptoms.Results: In our cohort of 54 individuals, 96.3% had sleep scores consistent with a sleep disturbance. Sleep subscale analysis provided additional insight into the characteristics of the sleep disturbance. Fifty two of the 54 patients had at least one abnormal sleep subscale. The onset of sleep disturbance was associated with the onset of both seizures (ρ = 0.5834, P < 0.0001) and loss of vision (ρ = 0.3840, P = 0.0084). Restless leg syndrome symptoms were reported in 35.2%.Conclusion: Children with neuronal ceroid lipofuscinosis have a high burden of sleep disturbances. Using the results of a sleep disturbance screening tool can help to identify the most disturbing symptoms. Targeted treatment of sleep disturbance may improve the quality of life for the patient and family.
Lehwald L M; Pappa R; Steward S; de los Reyes E
Pediatric Neurology
2016
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/j.pediatrneurol.2016.02.009" target="_blank" rel="noreferrer noopener">10.1016/j.pediatrneurol.2016.02.009</a>
Clinical trial of piracetam in patients with myoclonus: nationwide multiinstitution study in Japan. The Myoclonus/Piracetam Study Group
tone and motor problems; myoclonus; epilepsy; seizures; pharmacologic intervention; piracetam
Sixty patients with disabling myoclonus excluding mainly spinal myoclonus were treated by piracetam as an open-labeled study, and myoclonus score, neurological symptoms, functional disability, and intensity of myoclonus were scored before and after treatment, including a blinded video inspection. Electrophysiological correlation also was investigated before and after treatment. Piracetam was effective in myoclonus, especially that of cortical origin, in both monotherapy and polytherapy. Piracetam also had positive benefits on gait ataxia and convulsions but not on dysarthria, and feeding and hand writing improved much more significantly. Psychologically significant improvement was seen in decreased motivation, sleep disturbance, attention deficit, and depression, all of which might be possibly secondary benefits associated with improvement of myoclonus. There was no positive correlation between clinical and electrophysiological improvement. Tolerance was good, and side effects were transient. However, hematological abnormalities observed in at least two patients in the present study should be kept in mind when relatively large doses of piracetam are administered, especially in combination with other antimyoclonic drugs.
Ikeda A; Shibasaki H; Tashiro K; Mizuno Y; Kimura J
Movement Disorders
1996
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/mds.870110615" target="_blank" rel="noreferrer noopener">10.1002/mds.870110615</a>
Sublingual lorazepam at home for acute treatment of seizures
Home Nursing; Epilepsy; Seizures; Administration; Oral; home care services; Sublingual; Benzodiazepinones; Chlorobenzenes; Convulsions; Lorazepam
eizures are often initially treated at home. The standard treatment is rectal diazepam. Sublingual (SL) lorazepam is easy to administer but has not been well evaluated for efficacy in epilepsy. It has been reported to be effective for serial seizures in 10 children.1 Aim: To study the efficacy of SL lorazepam for seizures in children at home. Method: After informed consent 18 children were enrolled in the study. The parents were instructed to use SL Lorazepam for seizures lasting at least 5 minutes. After each administration, the parents completed a standardised questionnaire. The outcomes were time from lorazepam administration to seizure cessation and the occurrence of any adverse events. Results: 18 children received SL lorazepam to treat 49 seizures. 26 were prolonged and 23 serial seizures. Lorazepam was given after a median of 5 minutes (range 1–60). 39 seizures stopped after a median of 6 minutes (range 1–75). Seizures recurred in 17 children after a median of 8 hours (range 1–16). 34 of 49 administrations were followed by sleep and 4 by rapid breathing or snoring. No apneas were reported. 16 children visited the emergency department of which 13 were admitted. All parents thought lorazepam was easy to administer. Conclusion: SL lorazepam is effective in the treatment of prolonged and serial seizures at home. Larger prospective studies are needed. SL lorazepam may be a promising alternative treatment to rectal diazepam.
2003
Wassmer E; Allen A; Bjelajac A; Weiss S
Archives Of Disease In Childhood
2003
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
Seizure Management In End Of Life Care For Children
Hospice Care; Midazolam; Paediatric; Seizures; Terminal Care
Objective: Controlling seizures in children approaching death is often challenging. The evidence base to guide best practice is limited. We aimed to compare our current practice against the guidance for seizure management produced by the Association of Paediatric Palliative Medicine, and the Children's BNF, seeking to improve symptom control in this situation. Methods: Retrospective case note review of episodes of challenging seizure management in children receiving end-of-life care over a ten year period (2006-2015) in the southwest region of England. Results: We reviewed 18 cases where seizure management in EOL care was difficult. 6 (33%) had a malignancy, 8 (44%) had a progressive neurodegenerative condition, and 4 (22%) had a static neurological condition with associated epilepsy. 13 (72%) died in their local hospice, 4 (22%) at home, 1 (6%) in hospital. 17 (94%) involved the use of subcutaneous or intravenous midazolam infusion, for a mean of 11 days (range 3-27). There was a wide range of starting doses of midazolam, and 9/17 (53%) received final doses in excess of current dose recommendations. 6 (33%) received subcutaneous phenobarbital infusions, with 4/6 (67%) receiving final doses in excess of current dose recommendations. Plans for adjustments of infusion rates, maximal doses, or alternative approaches should treatment fail were inconsistent. In 17 (94%) cases seizures were controlled before the child died, but often this took hours or days. Fear of apnoea or over-sedation was the biggest barrier to prompt symptom control. Staff found the experience of managing seizures at end-of-life challenging and stressful. Conclusions: Seizure management in end-of-life care is inconsistent. Despite limited evidence, best-practice management guidance should be developed to support improvements in this area of symptom control.
Harris N; Baba M; Beringer A; Mellor C; Rogers R; Taylor K; Sharples P
Developmental Medicine And Child Neurology
2017
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
10.1111/dmcn.13347