Deep Brain Stimulation in Rare Inherited Dystonias
adolescent; clinical assessment; disease duration; time to treatment; dystonic disorder/su [Surgery]; priority journal; follow up; school child; outcome assessment; Dystonia; clinical effectiveness; gabapentin/dt [Drug Therapy]; human; article; child; adult; clinical article; aged; surgery; middle aged; disease severity; dystonia; phenotype; rating scale; ataxia telangiectasia/di [Diagnosis]; ataxia telangiectasia/dt [Drug Therapy]; atypical dopa responsive dystonia/di [Diagnosis]; atypical dopa responsive dystonia/dt [Drug Therapy]; baclofen/dt [Drug Therapy]; benzodiazepine derivative/dt [Drug Therapy]; brain depth stimulation; Burke Fahn Marsden Dystonia Rating Scale; cerebellar ataxia/di [Diagnosis]; cerebellar ataxia/dt [Drug Therapy]; chorea/di [Diagnosis]; chorea/dt [Drug Therapy]; clobazam/dt [Drug Therapy]; clonazepam/dt [Drug Therapy]; Deep brain stimulation; diazepam/dt [Drug Therapy]; dystonia/di [Diagnosis]; dystonia/dt [Drug Therapy]; dystonic disorder/th [Therapy]; entacapone/cb [Drug Combination]; entacapone/dt [Drug Therapy]; escitalopram/dt [Drug Therapy]; extrapyramidal syndrome/di [Diagnosis]; extrapyramidal syndrome/dt [Drug Therapy]; haloperidol/dt [Drug Therapy]; Inherited dystonia; levodopa/dt [Drug Therapy]; lorazepam/dt [Drug Therapy]; methylmalonic aciduria/di [Diagnosis]; methylmalonic aciduria/dt [Drug Therapy]; mirtazapine/dt [Drug Therapy]; motor dysfunction assessment; nemaline myopathy/di [Diagnosis]; nemaline myopathy/dt [Drug Therapy]; neuronal ceroid lipofuscinosis/di [Diagnosis]; neuronal ceroid lipofuscinosis/dt [Drug Therapy]; olanzapine/dt [Drug Therapy]; pramipexole/cb [Drug Combination]; pramipexole/dt [Drug Therapy]; preoperative care; risperidone/dt [Drug Therapy]; selegiline/cb [Drug Combination]; selegiline/dt [Drug Therapy]; tetrabenazine/dt [Drug Therapy]; therapy effect; tizanidine/dt [Drug Therapy]; trazodone/dt [Drug Therapy]; Treatment; trihexyphenidyl/cb [Drug Combination]; trihexyphenidyl/dt [Drug Therapy]; trisomy/di [Diagnosis]; trisomy/dt [Drug Therapy]; Wilson disease/di [Diagnosis]; Wilson disease/dt [Drug Therapy]; woodhouse sakati syndrome/di [Diagnosis]; woodhouse sakati syndrome/dt [Drug Therapy]; x trisomy/di [Diagnosis]; x trisomy/dt [Drug Therapy]; tone and motor problems; ataxia telangiectasia; MCM deficiency; NCL; Nemaline myopathy; surgical intervention; Deep Brain Stimulation
Background Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. Methods Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case). The primary outcome was the difference in the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) between baseline, 1 year and last available follow-up. Preoperative factors such as age at surgery, disease duration at surgery, proportion of life lived with dystonia and severity of dystonia were correlated to the primary outcome. Results Eleven patients were operated between February 2003 and December 2013. Age and duration of disease at time of surgery were 30+/-19 and 12.5+/-15.7 years, respectively. DBS effects on dystonia severity were variable but overall marginally effective, with a mean improvement of 7.9% (p=0.39) at 1-year follow-up and 16.7% (p=0.46) at last follow-up (mean 47.3+/-19.9 months after surgery). No preoperative factors were identified to predict the surgical outcome. Conclusion Our findings support the current knowledge that DBS is modestly effective in treating rare inherited dystonias with a combined phenotype. However, the BFMDRS might not be the best tool to measure outcome in these severely affected patients. Copyright © 2016 Elsevier Inc.
Beaulieu-Boire I; Aquino C C; Fasano A; Poon Y Y; Fallis M; Lang A E; Hodaie M; Kalia S K; Lozano A; Moro E
Brain Stimulation
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.brs.2016.07.009" target="_blank" rel="noreferrer noopener">10.1016/j.brs.2016.07.009</a>
Gabapentin for the treatment of pain manifestations in children with severe neurological impairment: A single-centre retrospective review
child; human; retrospective study; clinical article; palliative care; pain; priority journal; review; alopecia/si [Side Effect]; disease severity; drug efficacy; drug substitution; drug withdrawal; gabapentin/ae [Adverse Drug Reaction]; gabapentin/dt [Drug Therapy]; gabapentin/pv [Special Situation for Pharmacovigilance]; gastroenterology; general paediatrics; hypertransaminasemia/si [Side Effect]; irritability; lethargy/si [Side Effect]; muscle twitch; neurodisability; neurologic disease; pain/dt [Drug Therapy]; pregabalin/dt [Drug Therapy]; pregabalin/pv [Special Situation for Pharmacovigilance]; treatment duration; treatment response; vomiting/dt [Drug Therapy]; vomiting/si [Side Effect]
Pain, irritability and feeding intolerance are common symptoms affecting quality of life in children with severe neurological impairment (SNI). We performed a retrospective study to explore the use of gabapentinoid medications for symptom control in children with SNI. Patients attending the palliative care or gastroenterology department being treated with gabapentin for irritability, vomiting or pain of unknown origin were included. Information was gathered retrospectively from medical documentation. Irritability was reduced in 30 of the 42 patients included. Gabapentin was discontinued in 15 children, 12 of whom then received pregabalin. Three children had a good response to pregabalin, six a minimal improvement and three no improvement. These results support the use of gabapentinoids in this patient cohort. Copyright © Author(s) (or their employer(s)) 2019.
Collins A; Mannion R; Broderick A; Hussey S; Devins M; Bourke B
BMJ Paediatrics Open
2019
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/10.1136/bmjpo-2019-000467" target="_blank" rel="noreferrer noopener">10.1136/bmjpo-2019-000467</a>