Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases.

BACKGROUND: Dystonia is characterized by sustained or intermittent muscle contractions, leading to abnormal posturing and twisting movements. In pediatric patients, dystonia often negatively influences quality of life. Pharmacological treatment for dystonia is often inadequate and causes adverse effects. Deep brain stimulation (DBS) appears to be a valid therapeutic option for pharmacoresistant dystonia in children. METHODS: To illustrate the current clinical practice, we hereby describe two pediatric cases of monogenetic movement disorders presenting with dystonia and treated with DBS. We provide a literature review of similar previously described cases and on different clinical aspects of DBS in pediatric dystonia. RESULTS: The first patient, a 6-year-old girl with severe dystonia, chorea, and myoclonus due to an ADCY5 gene mutation, received DBS in an elective setting. The second patient, an 8-year-old boy with GNAO1-related dystonia and chorea, underwent emergency DBS due to a pharmacoresistant status dystonicus. A significant amelioration of motor symptoms (65% on the Burke-Fahn-Marsden Dystonia Rating Scale) was observed postoperatively in the first patient and her personal therapeutic goals were achieved. DBS was previously reported in five patients with ADCY5-related movement disorders, of which three showed objective improvement. Emergency DBS in our second patient resulted in the successful termination of his GNAO1-related status dystonicus, this being the eighth case reported in the literature. CONCLUSION: DBS can be effective in monogenetic pediatric dystonia and should be considered early in the disease course. To better evaluate the effects of DBS on patients' functioning, patient-centered therapeutic goals should be discussed in a multidisciplinary approach.

Assessment of foot deformities in individuals with cerebral palsy using weight-bearing CT.

OBJECTIVE: The aims of this study were to visualize and quantify relative bone positions in the feet of individuals with cerebral palsy (CP) with a foot deformity and compare bone positions with those of typically developed (TD) controls. MATERIALS AND METHODS: Weight-bearing CT images of 14 individuals with CP scheduled for tendon transfer and/or bony surgery and of 20 TD controls were acquired on a Planmed Verity WBCT scanner. Centroids of the navicular and calcaneus with respect to the talus were used to quantify foot deformities. All taluses were aligned and the size and dimensions of the individuals' talus were scaled to correct for differences in bone sizes. In order to visualize and quantify variations in relative bone positions, 95% CI ellipsoids and standard deviations in its principle X-, Y-, and Z-directions were determined. RESULTS: In individuals with CP (age 11-17), a large variation in centroid positions was observed compared to data of TD controls. Radiuses of the ellipsoids, representing the standard deviations of the 95% CI in the principle X-, Y-, and Z-directions, were larger in individuals with CP compared to TD controls for both the calcaneus (3.16 vs 1.86 mm, 4.26 vs 2.60 mm, 9.19 vs 3.60 mm) and navicular (4.63 vs 1.55 mm, 5.18 vs 2.10 mm, 16.07 vs 4.16 mm). CONCLUSION: By determining centroids of the calcaneus and navicular with respect to the talus on WBCT images, normal and abnormal relative bone positions can be visualized and quantified in individuals with CP with various foot deformities.

European consensus on the concepts and measurement of the pathophysiological neuromuscular responses to passive muscle stretch.

BACKGROUND AND PURPOSE: To support clinical decision-making in central neurological disorders, a physical examination is used to assess responses to passive muscle stretch. However, what exactly is being assessed is expressed and interpreted in different ways. A clear diagnostic framework is lacking. Therefore, the aim was to arrive at unambiguous terminology about the concepts and measurement around pathophysiological neuromuscular response to passive muscle stretch. METHODS: During two consensus meetings, 37 experts from 12 European countries filled online questionnaires based on a Delphi approach, followed by plenary discussion after rounds. Consensus was reached for agreement ≥75%. RESULTS: The term hyper-resistance should be used to describe the phenomenon of impaired neuromuscular response during passive stretch, instead of for example 'spasticity' or 'hypertonia'. From there, it is essential to distinguish non-neural (tissue-related) from neural (central nervous system related) contributions to hyper-resistance. Tissue contributions are elasticity, viscosity and muscle shortening. Neural contributions are velocity dependent stretch hyperreflexia and non-velocity dependent involuntary background activation. The term 'spasticity' should only be used next to stretch hyperreflexia, and 'stiffness' next to passive tissue contributions. When joint angle, moment and electromyography are recorded, components of hyper-resistance within the framework can be quantitatively assessed. CONCLUSIONS: A conceptual framework of pathophysiological responses to passive muscle stretch is defined. This framework can be used in clinical assessment of hyper-resistance and will improve communication between clinicians. Components within the framework are defined by objective parameters from instrumented assessment. These parameters need experimental validation in order to develop treatment algorithms based on the aetiology of the clinical phenomena.

Ankle foot orthoses in cerebral palsy: Effects of ankle stiffness on trunk kinematics, gait stability and energy cost of walking.

In children with cerebral palsy (CP), rigid ventral shell ankle-foot orthoses (vAFOs) are often prescribed to reduce excessive knee flexion in stance and lower the energy cost of walking (ECW). However, how vAFOs affect ECW is a complex issue, as vAFOs may have an impact on lower limb biomechanics, upper body movements, and balance. Besides, the vAFO's biomechanical effect have been shown to be dependent on its stiffness around the ankle joint. We examined whether vAFO stiffness influences trunk movements and gait stability in CP, and whether there is a relationship between these factors and ECW. Fifteen children with spastic CP were prescribed vAFOs. Stiffness was varied into a rigid, stiff and flexible configuration. At baseline (shoes-only) and for each vAFO stiffness configuration, 3D-gait analyses and ECW-tests were performed. From the gait analyses, we derived trunk tilt, lateroflexion, and rotation range of motion (RoM) and the mediolateral and anteroposterior Margins of Stability (MoS) and their variability as measures of gait stability. With the ECW-test we determined the netEC. We found that wearing vAFOs significantly increased trunk lateroflexion (Wald χ2 = 33.7, p < 0.001), rotation RoM (Wald χ2 = 20.5, p < 0.001) and mediolateral gait instability (Wald χ2 = 10.4, p = 0.016). The extent of these effects partly depended on the stiffness of the vAFO. Significant relations between trunk movements, gait stability and ECW were found r = 0.57-0.81, p < 0.05), which indicates that trunk movements and gait stability should be taken into account when prescribing vAFOs to improve gait in children with CP walking with excessive knee flexion.

The validity and usability of an eight marker model for avatar-based biofeedback gait training.

BACKGROUND: Virtual reality presents a platform for therapeutic gaming, and incorporation of immersive biofeedback on gait may enhance outcomes in rehabilitation. Time is limited in therapeutic practice, therefore any potential gait training tool requires a short set up time, while maintaining clinical relevance and accuracy. The aim of this study was to develop, validate, and establish the usability of an avatar-based application for biofeedback-enhanced gait training with minimal set up time. METHODS: A simplified, eight marker model was developed using eight passive markers placed on anatomical landmarks. This allowed for visualisation of avatar-based biofeedback on pelvis kinematics, hip and knee sagittal angles in real-time. Retrospective gait analysis data from typically developing children (n = 41) and children with cerebral palsy (n = 25), were used to validate eight marker model. Gait outcomes were compared to the Human Body Model using statistical parametric mapping. Usability for use in clinical practice was tested in five clinical rehabilitation centers with the system usability score. FINDINGS: Gait outcomes of Human Body Model and eight marker model were comparable, with small differences in gait parameters. The discrepancies between models were <5°, except for knee extension where eight marker model showed significantly less knee extension, especially towards full extension. The application was considered of 'high marginal acceptability' (system usability score, mean 68 (SD 13)). INTERPRETATION: Gait biofeedback can be achieved, to acceptable accuracy for within-session gait training, using an eight marker model. The application may be considered usable and implemented for use in patient populations undergoing gait training.

Effect of selective dorsal rhizotomy on daily care and comfort in non-walking children and adolescents with severe spasticity.

BACKGROUND: In non-walking children with severe spasticity, daily care can be difficult and many patients suffer from pain. Selective dorsal rhizotomy (SDR) reduces spasticity in the legs, and therefore has the potential to improve daily care and comfort. AIM: To examine effects of SDR on daily care and comfort in non-walking children with severe spasticity due to different underlying neurological conditions. METHODS: Medical history, changes in daily care and comfort and satisfaction with outcome were assessed retrospectively in non-walking children who underwent SDR in our center, with a mean follow-up of 1y 7m (range 11m-4y 3m). All eligible patients (n = 24, years 2009-2014) were included. RESULTS: Mean age at SDR was 12y 4m (SD 4y 3m, range 2y 8m-19y 3m). Associated orthopaedic problems were frequent. Seven patients underwent scoliosis correction in the same session. Most improvements were reported in dressing (n = 16), washing (n = 12) and comfort (n = 10). Median score for satisfaction was 7 on a scale of 10 (range 1-9). SDR resulted in reduction of spasticity in leg muscles. In nine patients dystonia was recorded post-operatively, mainly in children with congenital malformations and syndromes. INTERPRETATION: SDR is a single event intervention that can improve daily care and comfort in non-walking children with severe spasticity, and can safely be combined with scoliosis correction. Despite the improvements, satisfaction is variable. Careful attention is necessary for risk factors for dystonia, which may be unmasked after SDR.

The head-shaft angle of the hip in early childhood: a comparison of reference values for children with cerebral palsy and normally developing hips.

The recognition of hips at risk of displacement in children with cerebral palsy (CP) is a difficult problem for the orthopaedic surgeon. The Gross Motor Function Classification System (GMFCS) and head-shaft angle (HSA) are prognostic factors for hip displacement. However, reference values for HSA are lacking. This study describes and compares the development of HSA in normal hips and children with CP. We selected 33 children from a retrospective cohort with unilateral developmental dysplasia of the hip (DDH) (five boys, 28 girls) and 50 children (35 boys, 15 girls) with CP with GMFCS levels II to V. HSA of normal developing hips was measured at the contralateral hip of unilateral DDH children (33 hips) and HSA of CP children was measured in both hips (100 hips). Measurements were taken from the radiographs of the children at age two, four and seven years. The normal hip HSA decreased by 2° per year (p < 0.001). In children with CP with GMFCS levels II and III HSA decreased by 0.6° (p = 0.046) and 0.9° (p = 0.049) per year, respectively. The HSA did not alter significantly in GMFCS levels IV and V. Between the ages of two and eight years, the HSA decreases in normal hips and CP children with GMFCS level, II to III but does not change in GMFCS levels IV to V. As HSA has a prognostic value for hip displacement, these reference values may help the orthopaedic surgeon to predict future hip displacement in children with CP.

The prognostic value of the head-shaft angle on hip displacement in children with cerebral palsy.

BACKGROUND: Hip displacement is the second most common deformity in cerebral palsy (CP). The risk for hip displacement is related to the Gross Motor Function Classification System (GMFCS). Recently, the head-shaft angle (HSA) has been identified as a predictor for hip displacement and the aim of this study is to assess the predictive value of the HSA for hip displacement in CP. METHODS: In this retrospective cohort, we performed radiological measurements in 50 children on both hips. In children with GMFCS level II (30 hips), III (30 hips), IV (20 hips) and V (20 hips), we measured the HSA and migration percentage (MP) in three age intervals: age two years (T1), age four years (T2) and age seven years (T3). RESULTS: At T1, the HSA was larger (more valgus) in hips that will displace than in hips that will not displace (174° vs. 166°; p = 0.001) and was also larger in higher GMFCS levels (IV-V vs. II-III) (172° vs. 165°; p < 0.001). At T1, GMFCS [odds ratio (OR) 14.7; p = 0.001] and HSA (OR 1.102; p = 0.043) were predictors for hip displacement at T3, but at T2, MP (OR 1.071; p = 0.010) was the only predictor for hip displacement at T3. CONCLUSIONS: The HSA at two years is larger in hips that will displace and larger in children with higher GMFCS levels (IV-V). At age two years, GMFCS and HSA are valuable predictors for hip displacement, but at the age of four years, only MP should be used in the prediction of hip displacement. LEVEL OF EVIDENCE: Prognostic study, level II.