Keywords Dyskinetic cerebral palsy and ...

Dyskinetic cerebral palsy and dystonia
Jason Foran, Michael Moore, Ellen Crushell, Ina Knerr, Niamh McSweeney
A 4-year-old girl was referred for reassessment of dyskinetic cerebral palsy. Initial investigations in her country of birth, India, had not yielded a diagnosis. MRI brain in infancy revealed bilateral putamen hyperintensity. She had generalized dyskinesia predominantly bulbar and limbs. Motor and speech development were most affected with preservation of cognitive development. There was no history of acute encephalopathic crisis or status dystonicus. Initial urine organic acids and amino acids and acylcarnitine profile (ACP) were normal...
March 2021: JIMD Reports
Saranda Bekteshi, Inti Vanmechelen, Marco Konings, Els Ortibus, Hilde Feys, Elegast Monbaliu
Objectives : To map the presence, severity, and distribution of spasticity and passive range of motion (pROM) deviations in dyskinetic cerebral palsy (DCP), and to explore their relation with dystonia, choreoathetosis, and functional abilities. Methods : This cross-sectional study included 53 participants with DCP. Spasticity was assessed with the Modified Ashworth Scale, limited- and increased pROM (hypermobility) with a goniometer, dystonia and choreoathetosis with the Dyskinesia Impairment Scale, gross motor and manual abilities with corresponding functional classification systems...
December 23, 2020: Developmental Neurorehabilitation
Saranda Bekteshi, Marco Konings, Ioana Gabriela Nica, Sotirios Gakopoulos, Jean-Marie Aerts, Hans Hallez, Elegast Monbaliu
INTRODUCTION: Power wheelchairs (PW) with head/foot steering systems are used as an alternative to joysticks in children with severe dyskinetic cerebral palsy (DCP). Mobility training programs are unstandardized to date, and insight on dystonia, choreoathetosis, and mobility performance may lead to greater independent mobility. OBJECTIVE: To map the presence and severity of dystonia and choreoathetosis during PW mobility in DCP and their relation with mobility performance...
August 22, 2020: European Journal of Paediatric Neurology: EJPN
Annika Danielsson, Inti Vanmechelen, Cecilia Lidbeck, Lena Krumlinde-Sundholm, Els Ortibus, Elegast Monbaliu, Kristina Tedroff
BACKGROUND: The Dyskinesia Impairment Scale (DIS) is a new assessment scale for dystonia and choreoathetosis in children and youth with dyskinetic cerebral palsy. Today, the Burke-Fahn-Marsden Dystonia Rating Scale (BFM) is mostly used to assess dystonia in children with inherited dystonia. The aim of this study was to assess reliability and validity of the DIS in children and youth with inherited or idiopathic dystonia. METHODS: Reliability was measured by (1) the intraclass correlation coefficients (ICCs) for inter-rater and test-retest reliability, as well as (2) standard error of measurement (SEM) and minimal detectable difference (MDD)...
August 11, 2020: Journal of Clinical Medicine
M Georgeta Varga, Nikita P Nand, Mark S LeDoux
Background: Myoclonus-dystonia due to SGCE mutations (OMIM: 159900) most commonly presents during childhood with mainly upper body myoclonus, and mild dystonia affecting the neck and arms. Case reports: Herein, we report patients misdiagnosed during childhood with Tourette syndrome and dyskinetic cerebral palsy, and, during adulthood, found to harbor SGCE frameshift mutations. Discussion: Myoclonus-dystonia may be underdiagnosed due to phenotypic misclassification during childhood...
July 28, 2020: Tremor and Other Hyperkinetic Movements
Saranda Bekteshi, Marco Konings, Inti Vanmechelen, Jan Deklerck, Els Ortibus, Jean-Marie Aerts, Hans Hallez, Petra Karlsson, Bernard Dan, Elegast Monbaliu
OBJECTIVES: To investigate the operational competences screen navigation and dwell function underlying eye gaze performance, and the relation of dystonia and choreoathetosis with eye gaze performance in children with dyskinetic cerebral palsy (DCP). METHODS: During a 5-week intervention, ten participants with DCP played eye gaze video games daily for 30 minutes. Six games were used to assess task performance, fixation count, and eye movement accuracy during four measurements...
November 2020: Developmental Neurorehabilitation
Sarah Perides, Jean-Pierre Lin, Geraldine Lee, Hortensia Gimeno, Daniel E Lumsden, Keyoumars Ashkan, Richard Selway, Margaret Kaminska
AIM: To establish the prevalence of dystonic pain in children and their response to deep brain stimulation (DBS). METHOD: Dystonic pain was assessed in a cohort of 140 children, 71 males and 69 females, median age 11 years 11 months (range 3y-19y 1mo), undergoing DBS in our centre over a period of 10 years. The cohort was divided into aetiological dystonia groups: 1a, inherited; 1b, heredodegenerative; 2, acquired; and 3, idiopathic. Motor responses were measured with the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS)...
August 2020: Developmental Medicine and Child Neurology
Helga Haberfehlner, Marije Goudriaan, Laura A Bonouvrié, Elise P Jansma, Jaap Harlaar, R Jeroen Vermeulen, Marjolein M van der Krogt, Annemieke I Buizer
BACKGROUND: In this systematic review we investigate which instrumented measurements are available to assess motor impairments, related activity limitations and participation restrictions in children and young adults with dyskinetic cerebral palsy. We aim to classify these instrumented measurements using the categories of the international classification of functioning, disability and health for children and youth (ICF-CY) and provide an overview of the outcome parameters. METHODS: A systematic literature search was performed in November 2019...
March 5, 2020: Journal of Neuroengineering and Rehabilitation
Inti Vanmechelen, Bernard Dan, Hilde Feys, Elegast Monbaliu
AIM: To assess test-retest reliability of the Dyskinesia Impairment Scale (DIS) in children and young adults with dyskinetic cerebral palsy (CP). METHOD: Dystonia and choreoathetosis were assessed in 15 participants with dyskinetic CP (13 males, 2 females; age range 5-22y, mean 14y, SD 4y) using the DIS in two separate sessions over 7 days. Exclusion criteria were changes in muscle relaxant medication within the previous 3 months, orthopaedic or neurosurgical interventions within the previous year, and spinal fusion...
December 13, 2019: Developmental Medicine and Child Neurology
Helga Haberfehlner, Laura A Bonouvrié, Karin Boeschoten, Sabine Fleuren, Elegast Monbaliu, Jules G Becher, R Jeroen Vermeulen, Annemieke I Buizer
AIM: To assess the responsiveness, concurrent validity, and feasibility of the Dyskinesia Impairment Scale (DIS) in non-ambulatory patients with dyskinetic cerebral palsy (CP). METHOD: The study is a secondary analysis of data collected in the IDYS trial, a randomized controlled trial on the effects of intrathecal baclofen (ITB). The DIS and Barry-Albright Dystonia Scale (BADS) were conducted at baseline and after 3 months of ITB or placebo treatment. Responsiveness was assessed by comparing the effect sizes and correlation of change after treatment between the DIS and BADS...
November 29, 2019: Developmental Medicine and Child Neurology
Berardo Rinaldi, Evelien Van Hoof, Anniek Corveleyn, Annick Van Cauter, Thomy de Ravel
Pathogenic variants in the BCAP31 gene have recently been associated with a severe congenital neurological phenotype, named DDCH after its key features: deafness, dystonia and central hypomyelination. BCAP31 is located at the Xq28 chromosomal region and only male individuals are currently known to be affected, the pathogenic variant being usually transmitted by healthy mothers. Here, we describe a three-year-old male child referred for severe developmental delay, failure to thrive, hearing loss and dyskinetic movements...
July 19, 2019: European Journal of Medical Genetics
Aske Høck, Bo Jespersen, Alfred Peter Born, Annemette Løkkegaard
In this review, we present evidence of treatment effect with deep brain stimulation (DBS) in patients with isolated forms of dystonia with generalised-, segmental- and focal phenotypes as well as tardive dystonia and dyskinetic cerebral palsy. Dystonia is a heterogeneous movement disorder, which can be disabling and difficult to treat. Patients with dystonia, who do not experience relief with medication and botulinum toxin, may be candidates for DBS.
May 13, 2019: Ugeskrift for Laeger
Laura A Bonouvrié, Jules G Becher, Johan S H Vles, R Jeroen Vermeulen, Annemieke I Buizer
OBJECTIVE: Intrathecal baclofen treatment is used for the treatment of dystonia in patients with severe dyskinetic cerebral palsy; however, the current level of evidence for the effect is low. The primary aim of this study was to provide evidence for the effect of intrathecal baclofen treatment on individual goals in patients with severe dyskinetic cerebral palsy. METHODS: This multicenter, randomized, double-blind, placebo-controlled trial was performed at 2 university medical centers in the Netherlands...
July 2019: Annals of Neurology
Hortensia Gimeno, Richard G Brown, Jean-Pierre Lin, Victoria Cornelius, Helene J Polatajko
OBJECTIVE: This proof-of-concept feasibility trial examined the potential of the Cognitive Orientation to daily Occupational Performance Approach (CO-OP) to augment deep brain stimulation (DBS) outcomes in childhood-onset hyperkinetic movement disorders (HMD) including dystonia and dyskinetic cerebral palsy. METHODS: This is a single case experimental design using multiple baseline as n-of-1 trial comprising 10 intervention sessions, with replications across participants (n = 10)...
February 22, 2019: Neurology
Inti Vanmechelen, Saranda Bekteshi, Kyra Bossier, Hilde Feys, Jan Deklerck, Elegast Monbaliu
Background: This cross-sectional study aims to investigate the presence and severity of overflow movements of dystonia and choreoathetosis in dyskinetic cerebral palsy (CP) and to assess the relationship of overflow movements with functional classification scales. Methods: Fifty-two subjects with dyskinetic CP were included. Presence and severity of dystonia and choreoathetosis overflow movements were assessed with the Dyskinesia Impairment Scale. Functional abilities were classified with the Gross Motor Function Classification System, Manual Ability Classification System, Viking Speech Scale, Communication Function Classification System, and Eating and Drinking Ability Classification System...
June 2020: Disability and Rehabilitation
Hortensia Gimeno, Helene J Polatajko, Victoria Cornelius, Jean-Pierre Lin, Richard G Brown
BACKGROUND: Currently, no evidence-based rehabilitation interventions are available for hyperkinetic movement disorders (HMD), including dyskinetic cerebral palsy (CP). Among these highly heterogeneous disorders, dystonia is the predominant disorder. The Cognitive Orientation to daily Occupational Performance (CO-OP) Approach-a task-oriented, performance-based intervention to enable participation-is currently being evaluated for its potential as an intervention option. PURPOSE: This paper reports the protocol for the second of two studies designed to evaluate the potential of CO-OP to improve functional outcomes for individuals with HMD following deep brain stimulation (DBS)...
June 2018: Canadian Journal of Occupational Therapy. Revue Canadienne D'ergothérapie
Hortensia Gimeno, Helene J Polatajko, Victoria Cornelius, Jean-Pierre Lin, Richard G Brown
BACKGROUND: Hyperkinetic movement disorders (HMD) are a heterogeneous group of neurological conditions among which dystonia is the predominant disorder and dyskinetic cerebral palsy the largest secondary dystonia group. Currently, there are no evidence-based, non-medical management options for childhood HMD. The Cognitive Orientation to daily Occupational Performance (CO-OP) Approach is a task-oriented, performance-based intervention that focuses on participation. PURPOSE: This paper reports the protocol for a proof-of-concept study to assess feasibility and preliminary evidence regarding efficacy of CO-OP for HMD following deep brain stimulation (DBS)...
June 2018: Canadian Journal of Occupational Therapy. Revue Canadienne D'ergothérapie
Han Gil Seo, You Gyoung Yi, Young-Ah Choi, Ja-Ho Leigh, Youbin Yi, Keewon Kim, Moon Suk Bang
OBJECTIVES: To investigate the characteristics of oropharyngeal dysphagia in adults with dyskinetic cerebral palsy (DCP) and cervical dystonia (CD). DESIGN: Exploratory observational cross-sectional study. SETTING: University hospital. PARTICIPANTS: Seventeen patients with DCP (8 men, 9 women; age, 45.7±6.3y) enrolled in a randomized controlled trial on the effects of botulinum toxin injection on CD. INTERVENTIONS: Not applicable...
June 26, 2018: Archives of Physical Medicine and Rehabilitation
Dianrong Sun, Qiang Wang, Mei Hou, Yutang Li, Rong Yu, Jianhui Zhao, Ke Wang
Dyskinetic cerebral palsy (CP) is the second major subtype of CP. Dyskinetic CP can be classified into different subtypes, but the exact clinical characteristics of these subtypes have been poorly studied. To investigate the clinical characteristics and functional classification of dyskinetic CP from the perspective of neurologic subtypes in a hospital-based follow-up study.This was an observational study of consecutive children with dyskinetic CP treated at The Affiliated Women & Children Hospital of Qingdao University (China) from October 2005 to February 2015...
May 2018: Medicine (Baltimore)
You Gyoung Yi, Keewon Kim, Youbin Yi, Young-Ah Choi, Ja-Ho Leigh, Moon Suk Bang
We aimed to evaluate the efficacy and safety of injecting botulinum toxin A (BoNT-A) into the neck muscles to treat cervical dystonia (CD) in patients with dyskinetic cerebral palsy (CP). This was a randomized, double-blinded, placebo-controlled trial with cross-over design. We prospectively enrolled adults with dyskinetic CP who were over 20 years old and had been clinically diagnosed with CD for more than one year. The primary outcome measure was the change in Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) at four weeks from the baseline TWSTRS...
May 16, 2018: Toxins
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