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.

Implementing the language comprehension test C-BiLLT: a qualitative description study using the COM-B model of behaviour change.

BACKGROUND: It is challenging to reliably assess the language comprehension of children with severe motor and speech impairments using traditional assessment tools. The Computer Based instrument for Low motor Language Testing (C-BiLLT) aims to reduce barriers to evidence-based assessment for this population by allowing children to access the test using non-traditional methods such as eye gaze so they can independently respond to test items. The purpose of this study is to develop a contextualized understanding of the factors that influenced clinicians' implementation of the C-BILLT in practice in the Netherlands and Norway. MATERIALS AND METHODS: A qualitative approach including semi-structured individual interviews with 15 clinicians (speech-language pathologists, neuropsychologists, and one teacher, counsellor, and vision specialist) was used. Data analysis was conducted in two rounds. First, a deductive approach including a codebook was used to code data within the COM-B components describing clinicians' capability, opportunity, and motivation for behaviour change. Then, an abductive approach applying thematic analysis was used to identify meaningful patterns within the COM-B components. RESULTS: Several meaningful barriers and facilitators were identified across the data. Clinicians used the C-BiLLT with two distinct groups of clients: (1) the population it was originally developed for, and (2) clients that could have also been assessed using a traditional language test. Clinicians working with the first group experienced more, and more complex barriers across all COM-B components, to successful C-BiLLT use than the latter. CONCLUSION: This study provides timely insights into the capability, opportunity, and motivation factors important for creating and sustaining assessment behaviour change in clinicians who used or attempted to use the C-BiLLT. Potential tailored intervention strategies aimed at improving implementation of novel assessment tools are discussed and may be helpful for others working to improve service delivery for children with complex needs.

Characterizing head motor disorders to create novel interfaces for people with cerebral palsy: creating an alternative communication channel by head motion.

This paper aims to validate a head mounted inertial interface to characterize disorder movements in people with cerebral palsy (CP). The kinematic patterns extracted from this study will be used to design an alternative communication channel (using head motion) adapted to user's capabilities and limitations. Four people with CP participated (GMFCS level V) and three healthy subjects as reference group. The main outcome measures were divided into 1) Time-domain, 2) Frequency-domain and 3) Spatial domain. Results showed that the inertial interface succeeds assessing the pathological motion. Firstly, the system differentiates between voluntary and involuntary motion in terms of motor control, frequency and range of motion. Secondly some motion disorders such as hypertonia, hypotonia can be identified. These results suggest that people with motor disorders could benefit from the developed inertial system in three fields: 1) diagnosis of motor disorder by means of an objective quantification, 2) physical and cognitive rehabilitation by means of proprioceptive enhancement through visual-motor feedback and 3) functional compensation by means of an inertial person-machine interface for controlling computer and assistive devices (e.g. wheelchairs or walkers).