Dyskinetic cerebral palsy and dystonia

INTRODUCTION: Impaired upper limb movements are a key feature in dyskinetic cerebral palsy (CP). However, information on how specific movement patterns relate to manual ability, performance and underlying movement disorders is lacking. Insight in these associations may contribute to targeted upper limb management in dyskinetic CP. This study aimed to explore associations between deviant upper limb movement patterns and (1) manual ability, (2) severity of dystonia/choreoathetosis, and (3) movement time/trajectory deviation during reaching and grasping...

BACKGROUND: Levodopa is used to treat hyperkinetic movements in children with dopa-responsive dystonia. However, levodopa may also be helpful in treating other forms of dystonia when used beyond a brief trial period. METHODS: We performed a retrospective review of all children referred to our institution for evaluation of generalized dystonia and subsequently treated with carbidopa-levodopa. Motor function was assessed using video recordings and examination notes, quantified with the Burke-Fahn-Marsden Dystonia Rating Scale...

INTRODUCTION: Dihydropteridine reductase deficiency (DHPRD) is a rare genetic disorder of tetrahydrobiopterin (BH4) regeneration, a cofactor for several enzymes, including phenylalanine hydroxylase. Due to hyperphenylalaninemia (HPA), patients can be detected by the newborn metabolic screening, when available. The most common symptoms of DHPRD may mimic cerebral palsy: developmental/cognitive impairment, hypotonia, peripheral hypertonia, dystonia, feeding difficulties, epilepsy, and microcephaly...

Herein, we describe the case of a 43-month-old girl who presented with clinical manifestations of dyskinetic cerebral palsy (CP), classified as the Gross Motor Function Classification System (GMFCS) V. The patient had no family history of neurological or perinatal disorders. Despite early rehabilitation, serial assessments using the Gross Motor Function Measure (GMFM) showed no significant improvements in gross motor function. Brain magnetic resonance imaging showed nonspecific findings that could not account for developmental delay or dystonia...

The rate model of basal ganglia function predicts that muscle activity in dystonia is due to disinhibition of thalamus resulting from decreased inhibitory input from pallidum. We seek to test this hypothesis in children with dyskinetic cerebral palsy undergoing evaluation for deep brain stimulation (DBS) to analyze movement-related activity in different brain regions. The results revealed prominent beta-band frequency peaks in the globus pallidus interna (GPi), ventral oralis anterior/posterior (VoaVop) subnuclei of the thalamus, and subthalamic nucleus (STN) during movement but not at rest...

Introduction: Video-based clinical rating plays an important role in assessing dystonia and monitoring the effect of treatment in dyskinetic cerebral palsy (CP). However, evaluation by clinicians is time-consuming, and the quality of rating is dependent on experience. The aim of the current study is to provide a proof-of-concept for a machine learning approach to automatically assess scoring of dystonia using 2D stick figures extracted from videos. Model performance was compared to human performance. Methods: A total of 187 video sequences of 34 individuals with dyskinetic CP (8-23 years, all non-ambulatory) were filmed at rest during lying and supported sitting...

OBJECTIVE: Cerebral palsy (CP) represents the most common childhood physical disability that encompasses disorders of movement and posture attributed to nonprogressive disturbances that occurred in the developmental fetal or infant brain. Dyskinetic CP (DCP), the second most common type of CP after spastic forms, refers to a subset of patients in whom dystonia and choreoathetosis are the predominant motor manifestations. Most children with CP have abnormal brain MRI studies indicative of cortical and deep gray matter damage consistent with hypoxic ischemic encephalopathy, which may preclude or suggest decreased efficacy of standard deep brain stimulation (DBS) targets...

BACKGROUND: Dyskinetic cerebral palsy (DCP), a lifelong neurological disorder beginning in early childhood, manifests with hyperkinetic movements and dystonia. The Movement Disorder-Childhood Rating Scale (MD-CRS) is a clinician-reported outcome measure assessing the intensity of movement disorders and their effect on daily life in pediatric patients. Content validity of clinical outcome assessments is key to accurately capturing patient perspective. Evidence demonstrating content validity of the MD-CRS in patients with DCP is needed...

Background -Movement patterns in dyskinetic cerebral palsy (DCP) are characterized by abnormal postures and involuntary movements. Current evaluation tools in DCP are subjective and time-consuming. Sensors could yield objective information on pathological patterns in DCP, but their reliability has not yet been evaluated. The objectives of this study were to evaluate (i) reliability and (ii) discriminative ability of sensor parameters. Methods -Inertial measurement units were placed on the arm, forearm, and hand of individuals with and without DCP while performing reach-forward, reach-and-grasp-vertical, and reach-sideways tasks...

BACKGROUND: Cerebral Palsy (CP) represents a frequent cause of disability in childhood. Early in life, genetic disorders may present with motor dysfunction and diagnosed as CP. Establishing the primary, genetic etiology allows more accurate prognosis, genetic counselling, and planning for symptomatic interventions in homogeneous etiological groups. Deep brain stimulation (DBS) is recommended in refractory movement disorders, including isolated pediatric dystonias. For dystonia evolving in more complex associations in genetic CP, the effect of DBS is still understudied and currently only sporadically described...

Most movement disorders in children are hyperkinetic. The most common type is tic disorders, which can involve motor and phonic tics and are classified as simple or complex. Motor or phonic tics that persist for more than 1 year are defined as persistent (chronic) tic disorder. Tourette syndrome can be diagnosed if a child has multiple motor tics and at least one phonic tic for more than 1 year with onset before age 18 years. Children with Tourette syndrome may have symptoms of attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, depression, or behavioral disorders...

AIM: To create a shortened, more user-friendly Second Edition of the Dyskinesia Impairment Scale (DIS-II) to assess dystonia and choreoathetosis, and evaluate its construct validity and reliability. METHOD: Scale development included an online expert meeting (n = 21) and iterative discussions within the research group (n = 6). A Rasch measurement model analysis on DIS scores from individuals with dyskinetic cerebral palsy or inherited/idiopathic dystonia (n = 123, 74 males, mean age 14 years, SD 5 years) was performed to evaluate the construct validity and reliability of the DIS-II...

BACKGROUND: Spasticity and dyskinesia are motor signs that co-exist in cerebral palsy (CP). It is well accepted that, in spastic bilateral CP, dystonia can be present in addition to spasticity, and equally that spasticity is often present in individuals with dyskinetic CP. In unilateral spastic CP, dystonia of the upper extremity is only rarely identified or addressed. The aim of this study was to investigate if dystonia was present in the hand of children with unilateral spastic CP, and, if present, to what extent, and when it was first noticeable...

BACKGROUND: Cerebral palsy (CP) is a common cause of acquired dystonia, which can lead to significant interference with quality of life and societal participation. In the last two decades, the surgical treatment of dystonia has primarily focused on deep brain stimulation targeting the basal ganglia and thalamic circuits. However, stimulation of the basal ganglia has generally been less effective in acquired combined forms of dystonia, including dystonic CP. These limitations, along with growing evidence for the role of the cerebellum in the pathophysiology of dystonia, have led to renewed interest in the cerebellum as a target for therapeutic stimulation in dystonia...

OBJECTIVE: To compare the efficacy of gabapentin as add-on therapy to trihexyphenidyl in the treatment of children with dyskinetic cerebral palsy (CP). METHODS: An open-labelled, randomized, controlled trial was conducted among children aged 3-9 y with dyskinetic CP [Gross Motor Functional Classification System (GMFCS) 4-5]. Participants were assigned into two groups: gabapentin with trihexyphenidyl (n = 30) and trihexyphenidyl alone (n = 30). Dyskinesia Impairment Scale (DIS), Dystonia Severity Assessment Plan (DSAP), and International Classification of Functioning, Disability, and Health-Children and Youth Version (ICF-CY) were measured at baseline, 4 and 12 wk...

Accurate and reliable measurement of the severity of dystonia is essential for the indication, evaluation, monitoring and fine-tuning of treatments. Assessment of dystonia in children and adolescents with dyskinetic cerebral palsy (CP) is now commonly performed by visual evaluation either directly in the doctor's office or from video recordings using standardized scales. Both methods lack objectivity and require much time and effort of clinical experts. Only a snapshot of the severity of dyskinetic movements (i...

Cerebral palsy (CP) is a relatively common neurological disease, and its prevalence at a transitional age is estimated to be approximately 0.2% in Japan. We should understand the pathology of CP, which causes various dysfunctions other than motor disturbances, for delivering a comprehensive treatment. Rapid progress in perinatal medicine has altered the underlying brain lesions. Bilateral spastic CP associated with visual cognitive impairment due to periventricular leukomalacia has becomethe most prevalent instead of dyskinetic CP due to kernicterus...

PURPOSE: To determine the feasibility of using parent-reported outcome measures of the Paediatric Pain Profile (PPP), Sleep Disturbance Scale for Children (SDSC) and Care and Comfort Hypertonicity Questionnaire (CCHQ) as repeated outcome measures of change at weekly intervals for children with dyskinetic cerebral palsy (CP). The secondary aim was to explore the efficacy of individualised movement intervention. MATERIAL AND METHODS: In this pilot feasibility study a single subject research design was utilised...

Cerebral palsy (CP) is the most common cause of motor disability in children. The largest group of children with CP present with spasticity. Dystonia is estimated to be present in approximately 15% of children with CP, referred to as dyskinetic CP. Still, dystonia in CP remains underdiagnosed. Dystonia and spasticity can occur together in a subgroup of children with CP as well. Dystonia is characterized by fluctuating hypertonia and involuntary movement and postures. Dystonia in children with CP can interfere with motor function, caregiving and comfort...

PURPOSE: To assess attainment of individual treatment goals one year after intrathecal baclofen (ITB) pump implantation in individuals with dyskinetic cerebral palsy (CP). MATERIALS AND METHODS: A multi-center prospective cohort study was conducted including 34 non-walking individuals with severe dyskinetic CP, classified as Gross Motor Function Classification System (GMFCS) IV/V, aged 4-24 years, 12 months after pump implantation. The main outcome measure was Goal Attainment Scaling (GAS)...