Dyskinetic Cerebral Palsy Research Articles

Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of <i>ATP8A2</i>

Cerebellar ataxia, mental retardation, and disequilibrium syndrome 4 (CAMRQ4) is early onset neuromotor disorder and intellectual disabilities caused by variants of ATP8A2. We report sibling cases and systematically analyze previous literature to increase our understanding of CAMRQ4. Japanese siblings presented with athetotic movements at 1 and 2 months of age. They also had ptosis, ophthalmoplegia, feeding difficulty, hypotonia, and severely delayed development. One patient had retinal degeneration and optic atrophy. Flattening of the auditory brainstem responses and areflexia developed. At the last follow-up, neither patient could sit or achieve head control, although some nonverbal communication was preserved. Whole exome sequencing revealed compound heterozygous variants of ATP8A2: NM_016529.6:c.[1741C>T];[2158C>T] p.[(Arg581*)];[(Arg720*)]. The p.(Arg581*) variant has been reported, while the variant p.(Arg720*) was novel. The symptoms did not progress in the early period of development, which makes it difficult to distinguish from dyskinetic cerebral palsy, particularly in solitary cases. However, visual and hearing impairments associated with involuntary movements and severe developmental delay may be a clue to suspect CAMRQ4.

Quality of Life After Deep Brain Stimulation of Pediatric Patients with Dyskinetic Cerebral Palsy: A Prospective, Single-Arm, Multicenter Study with a Subsequent Randomized Double-Blind Crossover (STIM-CP).

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. The aim is to assess DBS effects in pediatric patients with pharmacorefractory dyskinetic cerebral palsy with focus on quality of life. The method used is a prospective, single-arm, multicenter study. The primary endpoint is improvement in quality of life (CPCHILD [Caregiver Priorities & Child Health Index of Life with Disabilities]) from baseline to 12months under therapeutic stimulation. The main key secondary outcomes are changes in Burke-Fahn-Marsden Dystonia Rating Scale, Dyskinesia Impairment Scale, Gross Motor Function Measure-66, Canadian Occupational Performance Measure (COPM), and Short-Form (SF)-36. After 12months, patients were randomly assigned to a blinded crossover to receive active or sham stimulation for 24 hours each. Severity of dystonia and chorea were blindly rated. Safety was assessed throughout. The trial was registered at ClinicalTrials.gov, number NCT02097693. Sixteen patients (age: 13.4 ± 2.9 years) were recruited by seven clinical sites. Primary outcome at 12-month follow-up is as follows: mean CPCHILD increased by 4.2 ± 10.4 points (95% CI [confidence interval] -1.3 to 9.7; P=0.125); among secondary outcomes: improvement in COPM performance measure of 1.1 ± 1.5 points (95% CI 0.2 to 1.9; P=0.02) and in the SF-36 physical health component by 5.1 ± 6.2 points (95% CI 0.7 to 9.6; P=0.028). Otherwise, there are no significant changes. Evidence to recommend DBS as routine treatment to improve quality of life in pediatric patients with dyskinetic cerebral palsy is not yet sufficient. Extended follow-up in larger cohorts will determine the impact of DBS further to guide treatment decisions in these often severely disabled patients. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

P.0132 Selective lesions of medial septal cholinergic and gabaergic neurons differentially affect spatial memory and various neurotransmitter markers in the hippocampus

To investigate the characteristics of oropharyngeal dysphagia in adults with dyskinetic cerebral palsy (DCP) and cervical dystonia (CD).Exploratory observational cross-sectional study.University hospital.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.Not applicable.Baseline clinical assessments and videofluoroscopic swallowing studies (VFSSs) were conducted. VFSS findings were evaluated using the videofluoroscopic dysphagia scale (VDS) and the penetration-aspiration scale (PAS). The Gross Motor Function Classification System (GMFCS) and Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) scores were also assessed. Relationships between outcomes were evaluated using Spearman’s rank correlation.The clinical assessment revealed abnormalities in chewing (n=10, 58.8%), tongue movement (n=10, 58.8%), and laryngeal elevation (n=8, 47.1%). The most common abnormality on the VDS was inadequate mastication (n=13, 76.5%), followed by premature bolus loss, vallecular residue, and penetration/aspiration (all: n=10, 58.8%). A maximum PAS score of 8 was observed in 8 of 17 patients (47.1%). Total and pharyngeal VDS scores were significantly correlated with TWSTRS scores (ρ=0.543, P=.024 and ρ=0.539, P=.026, respectively); the VDS oral score did not correlate with the TWSTRS score (ρ=0.446, P=.073). There was no significant correlation between VDS score and GMFCS level (ρ=0.212, P=.414).This preliminary observational study presents the characteristics of oropharyngeal dysphagia in adults with DCP and CD. Pharyngeal stage difficulties were negatively correlated with severity of CD, but not with GMFCS level. Screening for dysphagia may be recommended in adults with DCP and severe CD.

Effects of Material Properties in Fabricating the Assistive Headrest Orthosis

- These days, numerous decisions and efforts are contributing to cerebral palsy (CP) cases. Patient with spastic or dyskinetic CP has to survive independently, where most of the time is spent in a wheelchair. An extension headrest must be applied to maximize independence and functionality in the sitting position for routine activities. This study aims to investigate the effects of material selection in fabricating the 3D-printed adjustable headrest. Expected headrest users would be children (age seven to nine years old). There are five materials in this research: Polycarbonate (PC), Polylactic Acid (PLA), Acrylonitrile Butadiene Styrene (ABS), Polyamide (Nylon), and Polyethylene Terephthalate (PETG). In the designing process, Computer-Aided Design (CAD) software focuses on designing the structure and Finite Element Analysis (FEA) software to analyze various parts. To conclude this study, PLA is chosen as the best material based on the best stress, deformation, and safety factors. Keywords-- Adjustable headrest; finite element analysis; material selection; 3D printing

Using both electromyography and movement disorder assessment improved the classification of children with dyskinetic cerebral palsy.

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. 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. Electromyography was carried out on the upper and lower limbs. Magnetic resonance imaging scans were revised, and aetiological searches for underlying genetic disorders were performed. We investigated 25 patients with dyskinetic CP at a mean age of 11.7years. Dystonia, spasticity and rigidity were found in the upper limbs of 21, four and six children, respectively, and in the lower limbs of 18, 18 and three children. The mean total Burke-Fahn-Marsden score for dystonia was 45.02, and the mean Disability Impairment Scale level was 38% for dystonia and 13% for choreoathetosis. Sustained electromyography activity was observed in 20/25 children. Stretching increased electromyography activity more in children with spasticity. There were 10 re-classifications. The children had heterogenic characteristics, and 40% were reclassified after systematic movement disorder evaluation.

Health Conditions in Adults With Cerebral Palsy: The Association With CP Subtype and Severity of Impairments.

Aim: To determine the prevalence of common health conditions in adults with cerebral palsy (CP) and to identify associations with the CP subtype or the severity of impairments.Methods: A population-based, cross-sectional study of 153 adults with CP born from 1959 to 1978 (87 males, 66 females; median age 48 years 3 months, range 37–58 years; 41% with unilateral spastic, 36% bilateral spastic, 19% dyskinetic, and 4% with ataxic CP). Data was gathered through interviews, physical assessments, and medical record reviews.Results: The most common health conditions in adults with CP were pain 65%, upper gastrointestinal disorders 33%, dysphagia 29%, epilepsy 29%, and depression 27%. Cerebral palsy subtype was significantly associated with the presence of pain (p = 0.029), gastrointestinal (p < 0.001), and respiratory disorders (p = 0.006). A more severe physical impairment was associated with a higher prevalence of gastrointestinal disorders (p < 0.001), respiratory disorders (p < 0.001), and pressure ulcers (p < 0.001). Intellectual disability was associated with a higher prevalence of gastrointestinal disorders (p < 0.001), pneumonia (p = 0.001) epilepsy (p = 0.001), and pressure ulcers (p < 0.001), but with a lower prevalence of pain (p < 0.004) and hypertension (p = 0.043).Conclusion: The prevalence of several common health conditions is related to the CP subtype and severity of impairments, indicating that CP plays a role in the development of these health conditions. Follow-up of adults with CP needs to include not only impairments, but general health as well. Increased attention directed toward signs of gastrointestinal and respiratory disorders in individuals with either dyskinetic CP, gross motor function classification system (GMFCS) levels IV–V, or intellectual disability, is recommended.

The immediate effect of different loads does not alter muscle co-activation of the upper limb in young adults with dyskinetic cerebral palsy.

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). 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? Fourteen healthy individuals (control group [CG]) and 14 individuals with DCP (dyskinetic group [DG]) participated in the study. The degree of muscle co-activation of the dominant limb during drinking from a mug was compared between the two groups. The task was divided into a going, adjusting, and returning phase. In the DG, an analysis was also performed on using an arm weight during the functional task. The loads corresponded to 10, 20, and 30 % of maximum isometric muscle strength measured in each participant. In comparing the two groups, the DG exhibited a greater muscle co-activation in the shoulder and elbow muscles during the going phase, the shoulder, elbow, and wrist during the adjusting phase; and the elbow during the returning phase. The DG also showed a greater mean index of curvature (MIC), time to perform the movement phases, and lesser mean velocity (Vm) to drinking. In analyzing the DG's arm weight, no effect on co-activation, MIC, time to perform the movement phases, and Vm to drinking were found with the loads tested (p > 0.05). Muscle co-activation is increased in adults with DCP in comparison to healthy individuals. Moreover, arm weight during the functional activity of drinking from a mug did not alter co-activation, although an immediate effect was expected.

Clinical Pattern and Associated Comorbidities of Corpus Callosum Agenesis- A Tertiary Hospital Study

Background: The corpus callosum is the main commissural bundle of fibers interconnecting the two cerebral hemispheres. Defective embryogenesis during 8 and 20 weeks of gestation can lead to partial or complete agenesis of the corpus callosum.&#x0D; Objective: To see the patient’s clinical, neurophysiological profile, and comorbidities with corpus callosum agenesis presented in tertiary care hospital.&#x0D; Materials &amp;Methods: This descriptive cross-sectional study was conducted in the department of Paediatric Neurology, BSMMU, Dhaka, from January to December 2018. Patients who were diagnosed clinically and neuro-radiologically as corpus callosum agenesis were included in this study.&#x0D; Results:Out of 20 patients, 45% were in 13-24 months and 30% were in the 0-12 months’ age group. Female patients (55%) were predominant.Forty percent of patients had microcephaly and 30% facial dysmorphism. The majority of patients presented with developmental delay (90%), followed by epilepsy, speech impairment, and mental retardation. About one-fourth (25%) of patients were diagnosed as quadriplegic cerebral palsy and one-third (30%) dyskinetic cerebral palsy. Abnormal ophthalmological findings were found in 40% of cases. EEG showed hypsarrhythmia in 30%, partial seizure with secondary generalization in 15%, and myoclonic epilepsy in 15% of patients.&#x0D; Conclusion: In this study, common clinical features of patients with corpus callosal agenesis were developmental delay, facial dysmorphism, and microcephaly. About half of the patients had epilepsy, speech impairment, and mental retardation. About two-thirds of the patients had EEG changes and the most common EEG change was hypsarrhythmia.&#x0D; BANGLADESH J CHILD HEALTH 2021; VOL 45 (1) : 10-14

Measuring the impact of dyskinesia on function in children with dyskinetic cerebral palsy.

This commentary is on the original article by Stewart et al. on pages 1469–1475 of this issue.

P-MD019. Gabapentin as add-on therapy to trihexyphenidyl in children with dyskinetic cerebral palsy: A randomized controlled trial

Introduction . Mangement of hypertonia in dyskinetic cerebral palsy is challenging. The present study was designed to compare the efficacy and safety of gabapentin as add-on therapy to trihexyphenidyl in the treatment of children with dyskinetic CP. Methods . An open labelled, randomized controlled trial was conducted among 60 children aged 3–9 years with dyskinetic CP (GMFCS 4-5). The participants were randomized into two groups: Gabapentin group receiving gabapentin with trihexyphenidyl (n = 30) and Trihexyphenidyl group receiving trihexyphenidyl alone (n = 30). Primary outcome measures include total Dyskinesia Impairment Scale (DIS), Dystonia Severity Assessment Plan (DSAP) and International Classification of Functioning Disability, and Health-Children and Youth Version (ICF-CY) assessed at four weeks and twelve weeks. Secondary outcome measure include frequency and nature of adverse drug reaction observed after initiation of drug therapy. Results . Out of 60 children, five children in gabapentin group and two children in trihexyphenidyl group were lost to follow up at twelve weeks. There was significant reduction in severity of dystonia in both the groups at four weeks as well as at twelve weeks (DIS: P < 0.001, DSAP: P = 0.007, ICF-CY: P < 0.001) but when the data were compared between the groups, there was no significant reduction in severity of dystonia at four weeks and at twelve weeks (DIS: P = 0.09, DSAP: P = 0.49, ICF-CY: P = 0.25). Constipation (11.5% in gabapentin group and 14.3% in trihexyphenidyl group) was the commonest side effect observed in both groups and both gabapentin as well as trihexyphenidyl were well tolerated without any serious side effect. Conclusion . Trihexyphenidyl alone is as effective as combination of gabapentin with trihexyphenidyl in reducing the severity of dystonia at twelve weeks. Hence, there is no added benefit of gabapentin in management of dystonia in children with dyskinetic CP.

Study on efficacy of lower limb motor function of sling exercise therapy combined with kinesio taping on dyskinetic cerebral palsy

Study on efficacy of lower limb motor function of sling exercise therapy combined with kinesio taping on dyskinetic cerebral palsy

Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.

Monoamine neurotransmitter disorders present predominantly with neurologic features, including dystonic or dyskinetic cerebral palsy and movement disorders. Genetic conditions that lead to secondary defects in the synthesis, catabolism, transport, and metabolism of biogenic amines can lead to neurotransmitter abnormalities, which can present with similar features. Eleven patients with secondary neurotransmitter abnormalities were enrolled between 2011 and 2015. All patients underwent research-based whole exome and/or whole genome sequencing (WES/WGS). A trial of treatment with levodopa/carbidopa and 5-hydroxytryptophan was initiated. In six families with abnormal neurotransmitter profiles and neurological phenotypes, variants in known disease-causing genes (KCNJ6, SCN2A, CSTB in 2 siblings, NRNX1, KIF1A and PAK3) were identified, while one patient had a variant of uncertain significance in a candidate gene (DLG4) that may explain her phenotype. In 3 patients, no compelling candidate genes were identified. A trial of neurotransmitter replacement therapy led to improvement in motor and behavioral symptoms in all but two patients. The patient with KCNJ6 variant did not respond to L-dopa therapy, but rather experienced increased dyskinetic movements even at low dose of medication. The patient's symptoms harboring the NRNX1 deletion remained unaltered. This study demonstrates the utility of genome-wide sequencing in further understanding the etiology and pathophysiology of neurometabolic conditions, and the potential of secondary neurotransmitter deficiencies to serve as novel therapeutic targets. As there was a largely favorable response to therapy in our case series, a careful trial of neurotransmitter replacement therapy should be considered in patients with cerebrospinal fluid (CSF) monoamines below reference range.

Commentary on a case report of Dopa-responsive dystonia or Segawa disease in Ghana

The case of Dopa-Responsive Dystonia or Segawa Disease reported in this issue brings to the fore the age-old tenets of medicine which is based on the taking of a detailed history, physical examination, and the request of relevant investigations to achieve a diagnosis. This is followed with an evidence-based treatment planning. This maxim remains important especially in resource poor environments where sometimes one must depend on the history and physical examination findings alone to make a diagnosis and commence treatment. The patient under review had had her condition progressively worsening for two years and had been managed as a case of cerebral palsy.The initial consideration of a possible dyskinetic cerebral palsy from bilirubin encephalopathy which the author indicated was common is understandable as this is one of the commonest causes of such presentation in the setting. However, having a more detailed history and having other differentials in mind such as childhood Dopa-Responsive Dystonia, as was the case presented, helped in identifying subtle differences in presentation that influenced the ultimate diagnosis. In this case, a later onset of symptoms (dystonia), with the symptoms being minimal after sleep and becoming more severe late afternoon having helped to clinch the diagnosis. Considering each patient one sees as eligible for a possible case report allows one to update his or her knowledge on the condition, identify peculiar features and directs the request of relevant investigations. The use of telemedicine is yet to be widespread in the developing world even though telecommunication infrastructure is improving in these regions. This case had the diagnosis essentially made by contacting a paediatric neurologist by telephone. Such specialist consultations need to be encouraged as there are very few specialists across the globe and less still in the developing economies.Governments and Medical Associations may have to lead in creating these platforms to assist in this direction to improve the overall access to specialist care and reviews in less endowed regions. In the case presented, the diagnosis of Dopa-Responsive Dystonia was confirmed after a demonstration of a marked and sustained response to low dose L-dopa without motor fluctuations or dyskinesias. We applaud the author for the diagnosis having been made by essentially a detailed history and physical examination and response to L-dopa. It was however indicated that there are recent developments that involve analysis of cerebrospinal fluid for neurotransmitters that demonstrate low concentrations of biopterin and neopterin with DNA sequencing demonstrating mutation of the GTP cyclohydrolase-1 gene in up to 80% of cases in gene studies. These diagnostic tests hinge on the finding of an autosomal dominant heterozygous mutation in the GTPcyclohydrolase-I gene that results in biopterin deficiency, a cofactor for tyrosine hydroxylase and dopamine deficiency and considered the most classic molecular pathophysiology of this condition [1]. These additional tests were not done bringing to the fore the limited access to investigative tools in some developing economies. While National Reference Laboratories are in existence in some countries, regional efforts could be made to set up reference laboratories that serve entire region to allow for pooling of infrequently performed laboratory tests for analysis. This will make such infrequently encountered medical conditions be accurately diagnosed and treated. Of concern is how to achieve an un-interrupted supply of L-Dopa as the child returns to the village. This should engage the attention of all involved in her treatment as they follow the patient up.To conclude, the suggestion by the author that the diagnosis of Dopa-Responsive Dystopia or Segawa disease must be considered in all cases of dystonia including cases of apparent dystonic cerebral palsy and especially where there is no history of birth asphyxia need being emphasized.

Efficacy of axial TheraTogs on gait pattern in children with dyskinetic cerebral palsy: a randomized controlled trial

BackgroundTheraTogs promotes proprioceptive sense of a child with cerebral palsy and improves abnormal muscle tone, posture alignment, balance, and gait. Therefore, the aim of this study was to investigate the efficacy of TheraTogs orthotic undergarment on gait pattern in children with dyskinetic cerebral palsy. Thirty children with dyskinetic cerebral palsy were selected for this randomized controlled study. They were randomly assigned to (1) an experimental group that received TheraTogs orthotic undergarment (12 h/day, 3 days/week) plus traditional physical therapy for 3 successive months and (2) a control group that received only traditional physical therapy program for the same time period. Gait parameters were measured at baseline and after 3 months of intervention using Pro-Reflex motion analysis.ResultsChildren in both groups showed significant improvements in the gait parameters (P < 0.05), with significantly greater improvements in the experimental group than in the control group.ConclusionsThe use of TheraTogs may have a positive effect to improve gait pattern in children with dyskinetic cerebral palsy.Trial registrationThis trial was registered in the ClinicalTrial.gov PRS (NCT03037697).

A rare presentation of systemic complication of hypoxic ischemic encephalopathy in post cochlear implant child

&lt;p class="abstract"&gt;Cochlear implant is a small, complex electronic device to restore some hearing in profoundly deaf or severely hard-of hearing people when organ of corti is not developed or destroyed by injury to such an extent that no hearing can be obtained by hearing aids. Many classifications have been proposed for cochlear implant related problems .We report a case of post cochlear implant child who reported to OPD with complaint of progressive weakness of both upper and lower limb which developed 1 year after surgery ,which parents attributed it as a complication of surgery. On retrospective analysis all patient preop investigations were normal. After detailed examination of the child, neurophysician concluded that child is suffering from global developmental delay with dystonic cerebral palsy. MRI brain and cochlea which was done before the surgery which showed T1 hypointense,T2 and FLAIR hyperintense ,bilateral symmetrical foci with high ADC values are seen in bilateral lentiform nuclei .It has been reported that the bithalamic hyperdensities on CT and/or MRI in severely asphyxiated neonates, were suggested of a distinctive pattern of brain injury which might be useful as an early predictor of status marmoratus,afrequent pathological correlate of dyskinetic cerebral palsy. Approximately 1% of infants who survived perinatal asphyxial HIE would develop delayed-onset dystonia in the course of 7 to 13 years (median 10 years) after birth.&lt;/p&gt;

The Dyskinetic Cerebral Palsy Functional Impact Scale: development and validation of a new tool.

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). 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. Construct validity was determined by examining internal consistency; known groups validity with the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), Communication Function Classification System (CFCS), and Eating and Drinking Ability Classification System (EDACS); and convergent validity with the Barry-Albright Dystonia Scale (BADS). Fifty-seven parents of children (29 males, 28 females, mean [SD] age 11y 8mo [4y 4mo], range 2y 6mo-18y) completed the D-FIS. Correlation between D-FIS and GMFCS was r=0.86 (95% confidence interval [CI]: 0.77-0.91, p<0.001); MACS r=0.84 (95% CI: 0.73-0.90, p<0.001); CFCS r=0.80 (95% CI: 0.67-0.88, p<0.001); and EDACS r=0.78 (95% CI: 0.66-0.87). Correlation between D-FIS and BADS was r=0.77 (95% CI: 0.64-0.86, p<0.001). Cronbach's alpha was 0.96. The D-FIS demonstrates good construct validity and high internal consistency. The D-FIS will be useful for identifying priorities for intervention. It adds to the measurement tool kit for children with dyskinetic CP by addressing functional impact of dyskinetic movements and postures. What this paper adds The Dyskinetic Cerebral Palsy Functional Impact Scale (D-FIS) assesses the perceived impact of dyskinesia on daily activities in children with cerebral palsy (CP). The D-FIS demonstrates good construct validity and high internal consistency. The D-FIS is a clinically feasible, family-centred tool that fills a current gap in the dyskinetic CP assessment toolkit.

Spectrum of Movement Disorders and Correlation with Functional Status in Children with Cerebral Palsy.

To detail the spectrum of movement disorders (MD) among children with cerebral palsy (CP) and assess impact on functional status. 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). These scores were classified into mild-moderate (level I-III)/severe (level IV-V) categories. A total of 113 children (mean age 4.9 ± 3.4 y, 66.4% boys) were enrolled. MDs were noted in 52(46%) children; the most frequent were dystonia (28%), chorea (14%), choreoathetosis (8%). Of 64 children with quadriparetic CP, 27 (42.2%) demonstrated MDs. Of 19 children with hemiparetic CP, 2 (10.5%) had MDs. Of 16 children with dyskinetic CP, 15 (93%) had MDs. Children with dyskinetic CP had significantly higher frequency of MDs (p = 0.001). There was no difference in occurrence of all MDsor dystonia aloneamongst the two categories (mild-moderate/severe) of GMFCS E&R levels, CFCS levels or MACS levels. Although diverse MDs occur frequently in CP, these do not correlate with the broad functional status of the child. The study is limited by small sample size.

Status dystonicus in children: Treat the precipitating factors

Status dystonicus (SD) is a life-threatening movement disorder associated with significant morbidity and requires immediate and urgent intervention. It usually develops from both primary and secondary dystonias and rarely can be a complication of symptomatic insults such as infections, brain insults, or drugs. Compared to adults, it is seen more commonly in children due to the risk of many trigger factors and vulnerability of the developmental brain. Due to the delay in the identification and prevention of the triggering factors, nowadays most children require intensive care. Here, we report a 1-year-old boy, who was a known case of dyskinetic cerebral palsy, presented with increased twisting movements after an episode of febrile illness. The SD partially resolved after midazolam infusion, however, after treating the triggering factors (constipation and pneumonia), the SD resolved completely.

Exercise load and physical activity intensity in relation to dystonia and choreoathetosis during powered wheelchair mobility in children and youth with dyskinetic cerebral palsy

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. Results Neck- and distal arm dystonia showed significant correlations with HR (0.64 < r s < 0.77; 0.009 < p < 0.048), whereas neck- and proximal arm choreoathetosis with AI (0.64 < r s < 0.76, 0.011 < p < 0.044). Total-body AI was strongly correlated to the AI of the arms (0.66 < r s < 0.90, < 0.001 < p < 0.038), but not to the AI of the head. Conclusions During PW mobility tasks, dystonia is associated to exercise load and choreoathetosis to physical activity intensity and energy expenditure. Findings highlight the difficulties in measuring exercise load and activity intensity in PW users with DCP due to the involuntary hypertonic and/or hyperkinetic hallmark of the movement disorders. Nevertheless, a relaxed surrounding with minimal distractions during PW training may increase learning efficiency. Future studies with a bigger sample size are highly recommended to fully establish the relationship between the variables and to allow generalizability of results. Implications for rehabilitation Dystonia is positively related to heart rate during powered mobility, which may be explained by the hypertonic hallmark of dystonia causing an increase in exercise load. Choreoathetosis is positively related to the physical activity index during powered mobility where the hyperkinetic hallmark of choreoathetosis may lead to an increase in physical activity intensity and energy expenditure. Arm overflow movements are the component which contribute the most to total-body activity index, thus, minimizing these movements may lower the overall energy expenditure during powered mobility. Mobility training in a relaxed surrounding with minimal distractions and minimized arm overflow movements may lead to a less-demanding powered wheelchair mobility experience and increased learning efficiency.

Can spatial filtering separate voluntary and involuntary components in children with dyskinetic cerebral palsy?

The design of myocontrolled devices faces particular challenges in children with dyskinetic cerebral palsy because the electromyographic signal for control contains both voluntary and involuntary components. We hypothesized that voluntary and involuntary components of movements would be uncorrelated and thus detectable as different synergistic patterns of muscle activity, and that removal of the involuntary components would improve online EMG-based control. Therefore, we performed a synergy-based decomposition of EMG-guided movements, and evaluated which components were most controllable using a Fitts' Law task. Similarly, we also tested which muscles were most controllable. We then tested whether removing the uncontrollable components or muscles improved overall function in terms of movement time, success rate, and throughput. We found that removal of less controllable components or muscles did not improve EMG control performance, and in many cases worsened performance. These results suggest that abnormal movement in dyskinetic CP is consistent with a pervasive distortion of voluntary movement rather than a superposition of separable voluntary and involuntary components of movement.