Significant Motor Disability Research Articles

Co-Design of an Intervention to Increase the Participation in Leisure Activities Including Adolescents with Cerebral Palsy with GMFCS Levels IV and V: A Study Protocol.

The participation of adolescents with cerebral palsy (CP) within the community is reduced compared to their peers and is a barrier to their socialization, self-determination and quality of life. Patient and Public Involvement (PPI) is a key strategy for successful interventions, especially when involvement of the stakeholders takes place at all stages of the research. Co-design can be crucial for success as researchers, patients with CP and their families work together to bring the necessary elements to the interventions to be designed. The objectives will be: (1) To co-design an intervention aimed at improving the participation of adolescents with significant motor disabilities within the community in partnership with adolescents with CP, families and rehabilitation professionals. (2) To assess the feasibility of the co-design process in partnership with interested parties. The study will be based on Participatory Action Research (PAR) and will be held in Spain and Brazil. In both countries, the study will be carried out remotely with nine adolescents aged 12 to 17 years with CP, Gross Motor Function Classification System (GMFCS) levels IV-V, their families and six health professionals (physiotherapists and occupational therapists). Different dialogue groups will be created to involve adolescents, families and health professionals to the research's project. To manage their involvement in the co-design process, the Involvement Matrix (IM) will be used, and according to the IM phases, four steps will be included in the research: (1) Preparation; (2) Co-design; (3) Analysis: results of the intervention protocol and the study's feasibility and (4) Dissemination of results. Partnering with the public to design an intervention to improve participation can bring better results compared to protocols designed only by health professionals. In addition, it will allow for knowing the needs of adolescents with CP in terms of participation within the community. The study will also explore which roles were chosen by all participants and how they felt while actively participating in the process of co-designing an intervention protocol and their own perspectives on the use of the involvement matrix.

Approach to the Treatment of Pediatric Dystonia

Dystonia is the most common movement disorder in the pediatric population. It can affect normal motor development and cause significant motor disability. The treatment of pediatric dystonia can be very challenging as many children tend to be refractory to standard pharmacological interventions. Pharmacological treatment remains the first-line approach in pediatric dystonia. However, despite the widespread use of different ani-dystonia medications, the literature is limited to small clinical studies, case reports, and experts’ opinions. Botulinum neurotoxin (BoNT) is a well-established treatment in adults with focal and segmental dystonia. Despite the widespread use of BoNT in adult dystonia the data to support its use in children is limited with the majority extrapolated from the spasticity literature. For the last 2 decades, deep brain stimulation (DBS) has been used for a wide variety of dystonic conditions in adults and children. DBS gained increased popularity in the pediatric population because of the dramatic positive outcomes reported in some forms of genetic dystonia and the subsequent consensus that DBS is generally safe and effective. This review summarizes the available evidence supporting the efficacy and safety of pharmacological treatment, BoNT, and DBS in pediatric dystonia and provides practical frameworks for the adoption of these modalities.

New Orthosis: The Thoracic Lumbar Sacral–Hip Spica Orthotic Sitting Frame

ABSTRACT Introduction This article describes the benefit of combining a thoracic lumbar sacral orthosis (TLSO) and a hip spica orthosis (HSO) to create a sitting frame for children with emerging neck and trunk control who cannot sit by themselves. Materials and Methods A child with motor disabilities who cannot sit independently benefits from a custom floor sitting frame. The sitting frame's thoracic lumbar sacral orthosis and hip spica orthosis are separate entities but are used together to allow a child to sit on the floor independently. Although the presented child does not need added head support, the TLSO-HSO sitting frame can be fabricated with cervical support. This sitting frame has a versatile joint allowing for movement between upright sitting and sitting with upper-limb weight bearing. The frame's hip joint can also be locked in different degrees of tilt. The described child uses the frame in a locked 90° upright position. Evaluation, fitting, fabrication, and reimbursement submission is explained. Conclusions Floor sitting is an important developmental milestone. Available equipment, such as floor sitters and compression garments intended to support a child in sitting, fail to sufficiently support all children with significant motor disabilities who have floor sitting goals. The TLSO-HSO sitting frame is a custom-made floor sitter that may give children with significant motor disabilities who have emerging neck and trunk control the support they need to independently sit on the floor. This orthosis has the potential to improve the lives of many children and their families as it can be used in both home and classroom settings and can give children with significant motor disabilities the opportunity to use their hands freely to play and to interact with peers during floor play time. Clinical Relevance Some children with severe motor disabilities cannot floor sit independently. The present study describes a new floor sitting frame that closes the gap between available products designed as these products do not meet the needs of all children with severe motor disabilities who have emerging neck and trunk control.

Aquatic exercise associated or not with grape juice consumption-modulated oxidative parameters in Parkinson disease patients: A randomized intervention study

Parkinson's disease (PD) is a neurodegenerative disorder with significant motor disabilities and cognitive decline. Importantly, the imbalance of oxidative stress is related to PD physiopathology and progression. This study aimed to evaluate the impact of grape juice consumption associated with an aquatic exercise protocol on oxidative stress parameters and cognitive function in individuals with PD. The participants were randomized into two groups: grape juice group (GJG) and control group (CG) and were submitted to 4 weeks of an aquatic intervention (twice a week, approximately 60 minutes/session). The GJG also consumed 400 ml of grape juice per day (integral and conventional) during this period. Cognitive function was assessed by the Montreal Cognitive Assessment (MoCa) questionnaire. For the analysis of oxidative stress markers, specifically lipid oxidative damage (TBARS), proteins (Carbonil), acid uric and the activity of antioxidant enzymes (superoxide dismutase, glutathione peroxidase and catalase), blood collection were done before and after intervention. No changes were observed in cognitive function after intervention in both groups. Regarding biomarkers, a reduction of antioxidant enzymes, thiobarbituric acid reactive substances (TBARS) and uric acid was observed in both groups. However, only the GJG showed a significant reduction on protein oxidation levels after intervention. In conclusion, the consumption of grape juice associated with an aquatic exercise protocol might be consider an effective alternative to reduce the oxidative damage in PD, reinforcing the importance of this intervention in promoting beneficial impact in this population.

Motor skills in children with strabismus

To assess the extent to which strabismus in children was associated with motor difficulties and to examine which parameters of strabismus were most closely associated with motor development. The motor skills of children who were suffering from strabismus, were tested binocularly using the Movement Assessment Battery for Children, Second Edition (MABC-2) and compared with the motor performance of monocularly tested healthy controls without any ophthalmologic disease. A total of 40 children with strabismus (mean, 7.25±3.83years; 19 females) and 18 controls (mean age, 8.33±5.42years; 6 females) were tested. According to the MABC-2 test, of the 40, 19 had no motor disability, and 21 were at risk of or already presented significant motor disabilities. Results of the MABC-2 were significantly lower for strabismic children without binocularity compared to those with binocularity (P=0.002). Lack of binocularity was associated with significantly lower performance for static balance (P=0.003) as well as for catching tasks (P=0.042). Lack of binocularity and stereopsis in children is associated with significant motor skills impairment, in particular for static balance and catching tasks. These results should be confirmed with a larger sample, including older patients, to assess the compensation mechanisms that develop with age and the actual effects of strabismus on overall motor performance.

Influence of strabismus on the motor skills in children

AbstractPurposeTogether with anisometropia and organic causes of visual deprivation, strabismus, if not treated before the age of 7 or earlier, depending on studies, leads to amblyopia and loss of binocularity. In this study, we first examined which parameters of strabismus influenced the motor development in children. Second, we assessed to what extent different motor skills were impacted by strabismus.MethodsTo this end, we evaluated the motor skills of 40 children between 3 and 12 years old suffering from strabismus using the Movement Assessment Battery for Children – Second Edition (MABC‐2).ResultsAccording to MABC‐2, 19 children had no motor disability, and 21 had risk of or significant motor disabilities. As for the first question, results at MABC‐2 were significantly lower for children without compared to those with binocularity (p‐value = 0.002), and significantly lower for participants with binocularity but without stereoscopy in comparison with those with stereoscopy (p‐value = 0.099). However, results did not differ significantly according to the type of strabismus, that is infantile, secondary or acquired strabismus. Differences were not significant either according to the angle of deviation. Regarding our second question, binocularity significantly impacted static balance (p‐value = 0.003) and to a smaller extent dynamic balance (p‐value = 0.05). Performance for catching, but not for shooting, was significantly affected by binocularity (p‐value = 0.042).ConclusionsOur study shows that the development of motor skills in children is significantly affected when binocularity and stereoscopy are absent, independently from the type of strabismus. Among the motor skills, static balance and catching are significantly impacted by that absence of binocularity. These results should be confirmed with a larger sample, including older patients, to assess the compensation mechanisms put in place and the actual impact of strabismus on overall motor performance.

Spinal Instability in Rats Counteracted by Pentadecapeptide BPC 157

To induce spinal instability, we focused on bilateral facetectomy in rats and possible therapeutic benefit with the stable gastric pentadecapeptide BPC 157 given in the drinking water. Recently, using a well‐designed rat model (L2‐L3 compression), we demonstrated that the stable gastric pentadecapeptide BPC 157 improved the spinal cord injury (FASEB J 2015, 29, 617.5), concluding that under the conditions of one single application, given soon after spinal cord injury, motor function was markedly recovered, axonal and neuronal necrosis was counteracted, as was demyelination and cyst formation. Previously shown to counteract the consequence of peripheral (sciatic) nerve transection/anastomosis, improve nerve healing (Regul Pept. 2010 Feb 25;160(1–3):33–41.), brain trauma (Regul Pept. 2010;160(1–3):26–32.), and various encephalopathies (Curr Pharm Des. 2018;24(18):1990–2001), BPC 157 (LD1 not achieved) was implemented as an anti‐ulcer peptide in inflammatory bowel disease trials and now in a multiple sclerosis trial(Curr Pharm Des. 2018;24(18):1990–2001). In this study, the bilateral paravertebral muscles attached to the L3–L4 segment were peeled from the lumbar spine to expose the posterior bony elements. The rats then underwent complete resection of bilateral L3–L4 facet joints without neural tissue injuries. The medication was given in drinking water (BPC 157 10 ng/kg, 0.16 ng/mL, 12 ml/rat/day) through next 8 weeks, while controls received drinking water only. Radiological assesment of rat spines acquired at 1 week or 8 weeks was conducted (Figure 1). At 1 week, controls and BPC 157 animals exhibited no gross deformity observed in any plane, disk spaces seem unaffected, neural foramen at operated level is slightly widened, though BPC 157 drinking animals had higher bone density overall. At 8 weeks, both groups exhibited no gross deformity observed in any plane, unaffected disk spaces, widened neural foramen at the operated level is slightly widened, though there was an additional discrepancy in bone density overall between groups (BPC 157 having markedly more sclerotic and better defined bones). Also worth noting is the lack of abundant callus formation in the BPC 157 rats whereas the controls have visible callus formation in seemingly random patterns near the affected level. In addition, a significant motor disability which appears in controls immediately upon injury induction, was completely counteracted in BPC 157 drinking rats.Support or Funding InformationThis work was supported by the Ministry of Science, Education and Sports, Republic of Croatia [grant number 108‐1083570‐3635].This abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.

P.214 - Interim analysis of an investigator-initiated multi-site late-onset Pompe disease screening study

Late-onset Pompe disease (LOPD) is an inherited lysosomal storage disease, in which the enzyme acid alpha-glucosidase (GAA) is deficient. It is characterized by proximal limb-girdle muscle weakness and respiratory insufficiency. The disease is progressive, and if left untreated, may result in significant motor disability and respiratory failure. As of 2010, nine studies have been published documenting the incidence of LOPD. In the U.S. the incidence of the disease is 1 in 40,000. Recently Pompe disease has become part of the newborn screening panel in multiple states. Due to the relatively high frequency of Pompe disease reported, we would expect that large medical centers specializing in neuromuscular diseases would see a higher incidence of LOPD among their patients than what is currently reported. The objective of this multi-site investigator-initiated study is to determine true prevalence of LOPD in patients presenting to academic tertiary geographically disparate neuromuscular centers in the US and Canada using specific selection criteria. Clinic patients who present with symptoms of undiagnosed proximal muscle weakness, neck weakness or elevation of creatinine kinase, are screened for LOPD. Total recruitment goal is 1,500 subjects across 14 sites. Since study initiation we have enrolled 465 subjects. 42/465 (9.0%) had abnormal GAA enzyme levels (<10 pmol/punch/hr). 5/465 (1.1%) were diagnosed, confirmed by gene sequencing, with LOPD. 6/465 (1.3%) were carriers of one GAA gene mutation, 3/465 (0.6%) had one GAA variant of uncertain significance, and 3/465 (0.6%) had the pseudodeficiency allele. The study is ongoing however behind schedule. The feasibility of enrolling 1500 subjects in an investigator-initiated study has proven to be more challenging than anticipated.

P.223 - Postural and gait patterns assessed by 3D movement analysis in a late onset Pompe disease sibship

Late onset Pompe disease (LOPD) is characterized by significant motor disabilities, which affect in particular ambulation. Only one study reports on spatial-temporal parameters of gait assessed in a clinical heterogeneous group of unrelated patients. In this study spatiotemporal and kinematic gait patterns are described in a genetically homogenous group of LOPD patients using 3d movement analysis. 7 LOPD siblings, harbouring the same GAA mutations compound, were assessed with clinical scales and with 3d movement analysis to measure spatial-temporal and kinematic parameters during gait cycle and “sit to stand test”. Relevant abnormalities were observed either in spatial-temporal and kinematic parameters. The former consisted in a trend towards a decreased velocity and cadence, a prolonged time in double limb support, shorter step and stride length, and a widening of base of support; the latter in an increased anterior pelvic-tilt and posterior trunk-tilt during the whole gait cycle, a decreased pelvic obliquity, active hip extension and ankle dorsiflexion. This study shows, in homogenous group of LOPD patients, either spatial-temporal and kinematic deviations that may improve understanding of the musculoskeletal alterations, the evolution of disease and the answer to the enzyme replacement therapy.

Clinical Management of Dystonia in Childhood.

Dystonia is one of the most frequent movement disorders in childhood. It can impede normal motor development and cause significant motor disability. The diagnostic evaluation of childhood dystonia is challenging due to the phenotypic variability and heterogeneous etiologies. Evidence to guide the diagnostic evaluation and treatment is limited. Assessment is primarily directed by clinical history and distinctive examination findings. Neuroimaging is typically necessary to evaluate for acquired or complex inherited dystonias. A trial of levodopa can be both diagnostic and therapeutic in children with dopa-responsive dystonia. However, for the majority of children with early-onset dystonia, treatment is symptomatic with varying efficacy. There is a paucity of therapeutic trials for childhood dystonia and most treatment recommendations are consensus or expert opinion driven. This review summarizes the available evidence and guidelines on the diagnostic evaluation and pharmacological treatment of childhood-onset dystonia and provides practical frameworks to approach both issues based on best evidence.

Differentiating Multifocal Motor Neuropathy from Entrapment Neuropathy—A Diagnostic Challenge

Multifocal motor neuropathy (MMN) is a rare, treatable neuropathy, but good long-term outcomes are dependent on early treatment. Appropriate diagnostic criteria exist for MMN, but it has a heterogeneous clinical presentation, and, when confined to a small group of nerves, its clinical presentation can overlap with entrapment neuropathies. Electrodiagnosis is a useful diagnostic technique but occasionally MMN can be misdiagnosed as entrapment neuropathies. Misdiagnosis should rarely occur since the nerve involvement in MMN is usually not at sites of common nerve entrapment, and the impact of misdiagnosis can be substantial. The treatments of these conditions differ significantly: intravenous immunoglobulin is the standard therapy for MMN, while treatment options for entrapment neuropathies include conservative treatment, such as splinting, corticosteroids, or surgery. Such treatment in MMN may worsen symptoms, potentially leading to progressive motor symptoms, including muscle weakness, atrophy, and significant motor disability. Two exemplary cases are presented, which highlight the importance of differential diagnosis of these conditions. Emerging technologies, such as high-resolution sonography and magnetic resonance neurography, will aid in defining future diagnostic criteria of MMN.

Deep Brain Stimulation for Parkinson's Disease: Where Do We Stand?

Deep Brain Stimulation for Parkinson's Disease: Where Do We Stand?

When Should Levodopa Therapy be Initiated in Patients with Parkinson??s Disease?

Levodopa is available in three forms: immediate-release, orally disintegrating and sustained-release tablets. Levodopa is metabolised in the gastrointestinal tract, kidney and liver by aromatic acid dopa decarboxylase using pyridoxine as a cofactor. Approximately 70-80% of the dose is eliminated in the urine. Central conversion of levodopa to dopamine likely occurs at surviving dopaminergic terminals and at serotonergic and adrenergic nerve terminals that contain decarboxylase. Dopamine is metabolised by catechol-O-methyltransferase and monoamine oxidase. The major metabolites of dopamine are homovanillic acid and dihydroxyphenylacetic acid. Levodopa remains the most efficacious pharmacological treatment for the symptoms of Parkinson's disease (PD). Results of current levodopa trials suggest that treatment with levodopa at the onset of disease provides superior motor and functional control compared with dopamine receptor agonists. Moreover, levodopa is generally better tolerated with a lower incidence of gastrointestinal and neuropsychiatric adverse effects. The debate over the role of levodopa in the treatment of PD is fuelled by the results of in vitro studies that show generation of free radicals by levodopa and its toxic effects on cell cultures. Levodopa has also consistently been shown to produce motor fluctuations (in particular dyskinesias) sooner than has been observed in PD patients, especially younger patients, given dopamine agonists initially. However, the cumulative body of knowledge thus far does not show definitive evidence that levodopa is neurotoxic to parkinsonian patients. In older PD patients with lesser risk of motor fluctuations, levodopa may be used initially, and perhaps solely, in demented PD patients and those at higher risk of developing neuropsychiatric adverse effects. In young parkinsonian patients with mild motor dysfunction, use of levodopa may be delayed or the dosage minimised. However, because of levodopa's superior efficacy, when a rapid and sustained symptomatic improvement is required because of significant motor disability, levodopa may be used as the first-line agent regardless of age.

Poststroke Rehabilitation

To assess whether poststroke rehabilitation outcomes and reimbursement for Medicare beneficiaries differ across inpatient rehabilitation facilities (IRFs) and skilled nursing facility (SNF) subacute rehabilitation programs. Clinical data were linked with Medicare claims for 58,724 Medicare beneficiaries with a recent stroke who completed treatment in 1996 or 1997 in IRFs and subacute rehabilitation SNFs that subscribed to the Uniform Data System for Medical Rehabilitation. Outcome measures were discharge destination, discharge FIM ratings and Medicare Part A reimbursement during the institutional stay. IRF patients that were more likely to have a community-based discharge, compared with rehabilitation SNF patients, were patients with mild motor disabilities and FIM cognitive ratings of 23 or greater (adjusted odds ratio [AOR]=2.19; 95% CI: 1.52 to 3.14), patients with moderate motor disabilities (AOR=1.98; 95% CI: 1.49 to 2.61), patients with significant motor disabilities (AOR=1.26; 95% CI: 1.01 to 1.57) and patients younger than 82 with severe motor disabilities (AOR=1.43; 95% CI: 1.25 to 1.64). IRF patients with significant and severe motor disabilities achieved greater motor function of 2 or more FIM units compared with rehabilitation SNF patients. Medicare Part A payments for IRFs were higher than rehabilitation SNF payments across all subgroups. For most patients, poststroke rehabilitation in the more costly and intensive IRFs resulted in higher functional outcomes compared with care in a SNF-based rehabilitation program. IRF and SNF outcomes were similar for patients with minimal motor disabilities and patients with mild motor disabilities and significant cognitive disabilities. Cost-effectiveness analyses require considering the costs of the full episode of care.

Hydrocephalus and epileptic seizures.

Is there an association between shunted hydrocephalus and the development of epileptic seizures? To answer this question a retrospective review of the medical records of 197 patients with shunted hydrocephalus was undertaken. In this series 17% of patients with hydrocephalus developed seizures. No correlation was found between the occurrence of epileptic seizures and a shunt malfunction, the number of shunts placed, the age of the patient at the initial shunt procedure or the location of the shunt. Patients with hydrocephalus who had significant cognitive delay or significant motor disability were significantly more likely to develop seizures than patients who did not. The findings of this review support the hypothesis that the occurrence of seizures in children with hydrocephalus is related to an underlying diffuse encephalopathy and not to the hydrocephalus or to procedures related to the treatment of this disorder.

Cryptogenic sensory and sensorimotor polyneuropathies.

Chronic sensory or sensorimotor polyneuropathy is a common clinical problem referred to neurologists. Even with modern diagnostic approaches, up to one-third of them will remain unclassified. Recent studies have provided insight into their clinical spectrum and course. The age of onset tends to be in the sixth to seventh decade of life. Symptoms progress slowly, and most patients present with paresthesias or pain. Cryptogenic polyneuropathies are almost exclusively axonal on clinical, electrophysiologic, and histologic grounds. Overall, the prognosis is favorable, and only a small minority of patients develop significant motor disability or physical incapacitation. Progression to a nonambulatory state essentially never occurs. Successful management should focus on rational pharmacotherapy for painful paresthesias combined with patient education and reassurance.

Efficiency of lexical prediction as a communication acceleration technique

This study evaluated the performance of a lexical prediction communication program. It showed that lexical prediction saves key/switch activation effort by as much as 50% compared to normal typing. For individuals with significant motor disabilities, the technique may also save on the time required to prepare a message. On the other hand, use by individuals who have significant perceptual deficits may result in an increase in the time required to prepare a message. The study also developed a procedure and a set of indices that may be used to compute quantitative measures of performance of assistive communication devices. The procedure yields a composite performance index that may be useful for “rough and ready” comparison among various AAC devices and techniques. The procedure is especially useful for comparative studies of communication acceleration techniques.

Dandy-Walker syndrome revisited.

The Dandy-Walker syndrome is said to be associated with a high incidence of mental retardation and motor dysfunction leading some to suggest termination of the affected fetus in utero. Since this view seemed contrary to our experience, we reviewed 19 patients with the Dandy-Walker syndrome diagnosed from 1966 to 1983. Thirteen patients with Dandy-Walker syndrome were diagnosed before 6 months of age and followed for more than 2 years (mean: 10 years). In the absence of other associated major abnormalities, 7 of 8 (88%) are functioning well and have attended regular schools. Two of these seven have had special help with isolated learning problems. None of these patients have significant motor disability. One additional patient with normal intellectual and motor function died of acute shunt malfunction. In the remaining 4 patients with Dandy-Walker-associated abnormalities, 3 (75%) have severe intellectual retardation and spastic cerebral palsy. Five of six patients (83%) with Dandy-Walker syndrome diagnosed after 6 months of age are normal. The outcome of patients with Dandy-Walker syndrome appears far better than previously reported.