Dyskinetic cerebral palsy and dystonia

BACKGROUND: Patients with dyskinetic cerebral palsy are often severely impaired with limited treatment options. The effects of deep brain stimulation (DBS) are less pronounced than those in inherited dystonia but can be associated with favorable quality of life outcomes even in patients without changes in dystonia severity. OBJECTIVE: The aim is to assess DBS effects in pediatric patients with pharmacorefractory dyskinetic cerebral palsy with focus on quality of life...

AIM: Children with dyskinetic cerebral palsy (CP) are often severely affected and effective treatment is difficult, due to different underlying disease mechanisms. Comprehensive systematic movement disorder evaluations were carried out on patients with this disorder. METHODS: Patients born from 1995 to 2007 were identified from the Danish Cerebral Palsy Register and referrals to the neuropaediatric centre, Rigshospitalet, Copenhagen. They were classified by gross motor function, manual functional ability, communication ability, dystonia and spasticity...

PURPOSE: To ascertain whether young people with dystonia are more likely than the general population to have mental health and/or behavioural difficulties, and to explore factors that may contribute to these difficulties. METHOD: Using a quasi-experimental design, 50 young people with dystonia aged 7-17 and their carers were recruited from the Evelina London Children's Hospital. Young people completed the Beck Youth Inventories and the Strengths and Difficulties Questionnaire...

BACKGROUND: There is insufficient information on muscle co-activation in the upper limbs to help healthcare providers develop treatment programs for patients with dyskinetic cerebral palsy (DCP). RESEARCH QUESTION: Is the degree of muscle co-activation greater in adults with DCP than in healthy individuals? Does the use of different arm weights modify co-contraction in individuals with PCD? METHODS: Fourteen healthy individuals (control group [CG]) and 14 individuals with DCP (dyskinetic group [DG]) participated in the study...

AIM: To outline the development and examine the content and construct validity of a new tool, the Dyskinetic Cerebral Palsy Functional Impact Scale (D-FIS), which measures the impact of dyskinesia on everyday activities in children with cerebral palsy (CP). METHOD: D-FIS content was informed by a systematic review of dyskinesia outcome measures, in collaboration with children with dyskinetic CP, parents, caregivers, and expert clinicians. The D-FIS uses parent proxy to rate impact of dyskinesia on everyday activities...

OBJECTIVES: To detail the spectrum of movement disorders (MD) among children with cerebral palsy (CP) and assess impact on functional status. METHODS: In this cross-sectional study, children with CP were recruited and examined for various MDs. Tone abnormality was assessed using Hypertonia Assessment Tool (HAT), functional status using Gross Motor Function Classification System Expanded and Revised (GMFCS E&R), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS)...

BACKGROUND: We aimed to study the clinical, etiologic, and radiological characteristics in children with dyskinetic cerebral palsy (DCP) and to compare the etiologic subtypes of hyperbilirubinemia and perinatal asphyxia. METHODS: This is a cross-sectional, observational study that enrolled consecutive children with DCP, aged one to 14 years. RESULTS: Sixty-five children with DCP were evaluated. Most children were boys (77%, n = 50), and term gestation (80%, n = 52)...

Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of neurotransmitter synthesis. It presents with psychomotor delay, dystonia, oculogyric crisis, and autonomic features. There is paucity of literature on this disorder. Hence, we are reporting this series with an objective to study profile and outcome of Indian children with AADC deficiency. In this retrospective review, all case records of genetically confirmed cases of AADC deficiency at the pediatric neurology department in a tertiary care hospital, from March 2014 to March 2020, were analyzed...

PURPOSE: To explore the relation between exercise load, physical activity intensity, and movement disorders during powered wheelchair (PW) mobility in people with severe dyskinetic cerebral palsy (DCP). METHODS: Ten participants with DCP, 6-21 years old, users of a head/foot steering system were included. Dystonia and choreoathetosis were assessed using the Dyskinesia Impairment Mobility Scale (DIMS), heart rate (HR) was used to assess the exercise load of the tasks on the participants, and the accelerometry-based activity index (AI) to measure the physical activity intensity and energy expenditure during mobility task performance...

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...

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...

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...

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)...

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...

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...

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)...

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...

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...

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...

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...