Browse Items (109 total)
- Tags: tone and motor problems
Level of purposeful hand function as a marker of clinical severity in Rett syndrome
Tags: 2010, Adolescent, Adult, Age Factors, Bebbington A, characteristics, Child, Child Preschool, Cross-sectional Studies, Databases as Topic, Developmental Medicine and Child Neurology, Downs J, Female, Genotype, Ghosh S, Hand, Humans, Jacoby P, Kaufmann W E, Leonard H, Methyl-CpG-Binding Protein 2, Motor Activity, Mutation, Phenotype, Registries, Rett syndrome, Severity Of Illness Index, tone and motor problems, Trajectory, Video Recording, Walking, Williams A, Young Adult
Longitudinal Hand Function in Rett Syndrome
Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome
Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders
Tags: 2015, accelerometry, accuracy, activity monitors, Baikie G, Brisco L, Disability And Rehabilitation, Disease, Downs J, Hill K, injury, Jacoby P, Leonard H, outcome measure, physical activity, physical-activity, Rehabilitation, Rett syndrome, sample, scale development, step, StepWatch, test-retest reliability, tone and motor problems, tool development, Validity, Walking
Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome
Tags: 2017, Adolescent, Adult, characteristics, Controlled Study, Cross-sectional Study, Data Base, Developmental Medicine and Child Neurology, Downs J, Female, Hill K, Human, Leonard H, linear regression analysis, Major Clinical Study, Model, Newton N, Quantitative Study, Rett syndrome, scoliosis, Seizure, tone and motor problems, Trajectory, Wakefulness, Walking, Wong K
Validating the Rett Syndrome Gross Motor Scale
Development of a video-based evaluation tool in Rett syndrome
Tags: 2007, Adolescent, Adult, Burford B, Child, Diagnosis Differential, Downs J, Ellaway C, Feasibility Studies, feeding difficulties, Female, filming and coding protocol, Fyfe S, Humans, Journal of Autism and Developmental Disorders, Kaufmann W E, Laurvick C L, Leonard H, Lister J, Male, McIlroy O, Movement Disorders/diagnosis/etiology, Msall M, Phenotype, Philippe C, Reilly S, Rett syndrome, Rett Syndrome/complications/diagnosis, scale development, tone and motor problems, tool development, Videotape Recording
Beyond the Burke-Fahn-Marsden Dystonia Rating Scale: Deep brain stimulation in childhood secondary dystonia
Tags: (DBS), 2012, BFMDRS, cerebral-palsy, Childhood dystonia, Children, deep brain stimulation, Disability, European Journal of Paediatric Neurology, Follow-up, Gimeno H, globus-pallidus internus, Glutaric acidemia type I, Goals, Lin J P, Neurosciences & Neurology, Outcomes, Paediatric deep brain stimulation, Patient Selection, pediatric movement-disorders, Pediatrics, primary generalized dystonia, Rehabilitation, Reliability, secondary dystonia, Selway R, surgical intervention, tone and motor problems, Tustin K, Validity
Initial assessment of the StepWatch Activity Monitor (TM) to measure walking activity in Rett syndrome
Prospective study of spinal muscular atrophy before age 6 years. DCN/SMA Group
Tags: 1993, Browne R H, Buncher C R, characteristics, Child, Child Preschool, facial weakness, Female, Humans, Iannaccone S T, Infant, Male, Motor Skills/physiology, Muscle Contraction/physiology, Neurologic Examination, Pediatric Neurology, Prospective Studies, Range of Motion Articular/physiology, Reflex Stretch/physiology, Samaha F J, SMA1, Spinal Muscular Atrophies of Childhood/diagnosis/physiopathology, Sucking Behavior/physiology, tone and motor problems, tongue fasciculation, Trajectory
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Tags: 2011, Adams H, Adolescent, Adult, Analysis of Variance, Augustine E F, Beck C A, Child, Child Preschool, Cialone J, Cross-sectional Studies, Deblieck E A, Disabled Persons, Disease Progression, Dure L S, Genotype, Homozygote, Humans, Kwon J M, Levy E, Marshall F J, Membrane Glycoproteins, Mink J W, Molecular Chaperones, Mutation, NCL3, Neurology, Neuronal Ceroid-Lipofuscinoses, Neuropsychological Tests, Newhouse N J, Prospective Studies, Ramirez-Montealegre D, Regression Analysis, Reproducibility of Results, Rose K R, Rothberg P G, scale development, tone and motor problems, tool development, UBDRS, Vierhile A, Young Adult
The prevalence and phenomenology of repetitive behavior in genetic syndromes
Tags: 2009, Adolescent, Adult, Angelman Syndrome/epidemiology/psychology, Arron K, behavioral problems, Berg K, Burbidge C, characteristics, Child, Child Preschool, Cri-du-chat, Cri-du-Chat Syndrome/epidemiology/psychology, De Lange syndrome, De Lange Syndrome/epidemiology/psychology, Female, Fragile X Syndrome/epidemiology/psychology, Humans, Intellectual Disability/epidemiology/genetics/psychology, Journal of Autism and Developmental Disorders, London, Male, Middle Aged, Moss J, Oliver C, Phenotype, Prader-Willi Syndrome/epidemiology/psychology, Prevalence, repetitive behavior, Stereotyped Behavior, Surveys And Questionnaires, Syndrome, tone and motor problems, Trajectory, Young Adult
Building the repertoire of measures of walking in Rett syndrome
Tags: 2-minute, 2017, 6-minute, adults, Bisgaard A M, cerebral-palsy, Children, Disability And Rehabilitation, disability inventory, Downs J, functional mobility scale, girls, Leonard H, Modified two-minute walk test, Nordmark E, pediatric evaluation, Rehabilitation, Rett syndrome, Rett syndrome specific functional mobility scale, RSGMS, scale development, Stahlhut M, test-retest reliability, tone and motor problems, tool development, two-minute walk test, Walking
Stereotypies in Rett syndrome - Analysis of 83 patients with and without detected MECP2 mutations
Tags: 2007, Barbosa C, Barbot C, behaviors, Borges L, Cabral A, Cabral P, Calado E, Carrilho I, characteristics, Dias A, Dias K, Eusebio F, Fonseca M, Gomes R, hair pulling, hand movements, Levy A, Maciel P, Mira G, Monteiro J, Moreira A, Neurology, Neurosciences & Neurology, normal human infants, Oliveira G, Oliveira P, Regression, Rett syndrome, Santos M, Sequeiros J, stage, stereotypy, Temudo T, tone and motor problems, Trajectory, Vieira J
Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type
Tags: 2008, Barbot C, Borges L, Cabral A, Cabral P, Calado E, Carrilho I, characteristics, CHOREA, Dias K, Dystonia, females, Fonseca M, Gomes R, Levy A, Maciel P, Monteiro J P, Moreira A, Movement Disorders, Neurosciences & Neurology, Oliveira G, Parkinson, Ramos E, Rett syndrome, rigidity, Santos M, Sequeiros J, stereotypies, Temudo T, tone and motor problems, Trajectory, tremor, Vieira J P
Functional and gait assessment in children and adolescents affected by Friedreich's ataxia: A one-year longitudinal study
Tags: 2016, Adolescent, Article, assessment of humans, Bella G D, Bertini E, Castelli E, characteristics, Child, Clinical Article, Controlled Study, Female, Friedreich's ataxia, functional assessment, Gait, Gait Analysis and the Scale for the Assessment and Rating of Ataxia, Gazzellini S, Human, Lispi M L, longitudinal study, Male, Petrarca M, Pisano A, PLoS One, Preschool Child, Reliability, step length, stride length, tone and motor problems, Trajectory, Vasco G, Walking, walking velocity, Zazza M
Responsiveness of the motor function measure in neuromuscular diseases
Tags: 2012, Adolescent, Adult, Aged, Archives Of Physical Medicine And Rehabilitation, Berard C, Child, Disability Evaluation, Ecochard R, Female, Fermanian J, Girardot F, Humans, Iwaz J, Male, MFM, Middle Aged, Mobility Limitation, motor function measure, Motor Skills, Muscular Dystrophy Duchenne/physiopathology/rehabilitation, Neuromuscular Diseases/physiopathology/rehabilitation, Payan C, Perception, Physical Therapy Modalities, Prospective Studies, Q3 conditions, scale development, SMA1, tone and motor problems, tool development, Vuillerot C, Young Adult
Temporal and spatial gait parameters in children with Cri du Chat Syndrome under single and dual task conditions
Tags: 2016, Abbruzzese L D, Aubuchon M, characteristics, Children, concurrent task, Cri du Chat Syndrome, Dual-task, Gait, Gait & Posture, motor, Neurosciences & Neurology, older-adults, Orthopedics, parkinsons-disease, performance, Rao A K, Salazar R, Sport Sciences, tone and motor problems, Trajectory, Walking
A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis
Deep brain stimulation in children: experience and technical pearls
Tags: 2011, Adolescent, Adult, Age, Air E L, Brain/ra [Radiography], Child, deep brain stimulation, Deep Brain Stimulation/ae [Adverse Effects], Deep Brain Stimulation/mt [Methods], Dystonia/pp [Physiopathology], Dystonia/th [Therapy], Factors Brain/pa [Pathology], Female, Follow-up Studies, Glutaric acidemia type I, Humans, Journal of Neurosurgery - Pediatrics, Lesch-Nyhan syndrome, Magnetic Resonance Imaging, Male, Movement, Ostrem J L, Preschool, Retrospective Studies, Sanger T D, secondary dystonia, Starr P A, Tomography, tone and motor problems, X-Ray Computed Treatment Outcome
The use and effectiveness of elbow splints in the Rett syndrome
Deep Brain Stimulation in Rare Inherited Dystonias
Tags: 2016, Adolescent, Adult, Aged, Aquino C C, Article, ataxia telangiectasia, ataxia telangiectasia/di [Diagnosis], ataxia telangiectasia/dt [Drug Therapy], atypical dopa responsive dystonia/di [Diagnosis], atypical dopa responsive dystonia/dt [Drug Therapy], Baclofen/dt [drug Therapy], Beaulieu-Boire I, benzodiazepine derivative/dt [Drug Therapy], Brain Depth Stimulation, Brain Stimulation, Burke Fahn Marsden Dystonia Rating Scale, cerebellar ataxia/di [Diagnosis], cerebellar ataxia/dt [Drug Therapy], Child, chorea/di [Diagnosis], chorea/dt [Drug Therapy], Clinical Article, clinical assessment, Clinical Effectiveness, clobazam/dt [Drug Therapy], clonazepam/dt [Drug Therapy], deep brain stimulation, diazepam/dt [Drug Therapy], disease duration, Disease Severity, Dystonia, dystonia/di [Diagnosis], dystonia/dt [Drug Therapy], Dystonic Disorder/su [surgery], dystonic disorder/th [Therapy], entacapone/cb [Drug Combination], entacapone/dt [Drug Therapy], escitalopram/dt [Drug Therapy], extrapyramidal syndrome/di [Diagnosis], extrapyramidal syndrome/dt [Drug Therapy], Fallis M, Fasano A, Follow Up, gabapentin/dt [Drug Therapy], haloperidol/dt [Drug Therapy], Hodaie M, Human, Inherited dystonia, Kalia S K, Lang A E, levodopa/dt [Drug Therapy], lorazepam/dt [Drug Therapy], Lozano A, MCM deficiency, methylmalonic aciduria/di [Diagnosis], methylmalonic aciduria/dt [Drug Therapy], Middle Aged, mirtazapine/dt [Drug Therapy], Moro E, motor dysfunction assessment, NCL, Nemaline myopathy, nemaline myopathy/di [Diagnosis], nemaline myopathy/dt [Drug Therapy], neuronal ceroid lipofuscinosis/di [Diagnosis], neuronal ceroid lipofuscinosis/dt [Drug Therapy], olanzapine/dt [Drug Therapy], outcome assessment, Phenotype, Poon Y Y, pramipexole/cb [Drug Combination], pramipexole/dt [Drug Therapy], Preoperative Care, Priority Journal, Rating Scale, risperidone/dt [Drug Therapy], School Child, selegiline/cb [Drug Combination], selegiline/dt [Drug Therapy], Surgery, surgical intervention, tetrabenazine/dt [Drug Therapy], therapy effect, time to treatment, tizanidine/dt [Drug Therapy], tone and motor problems, trazodone/dt [Drug Therapy], Treatment, trihexyphenidyl/cb [Drug Combination], trihexyphenidyl/dt [Drug Therapy], Trisomy/di [diagnosis], trisomy/dt [Drug Therapy], Wilson disease/di [Diagnosis], Wilson disease/dt [Drug Therapy], woodhouse sakati syndrome/di [Diagnosis], woodhouse sakati syndrome/dt [Drug Therapy], x trisomy/di [Diagnosis], x trisomy/dt [Drug Therapy]
Behavioural phenotype of Cornelia de Lange syndrome
Levodopa is not a useful treatment for Lesch-Nyhan disease
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type i
Tags: 2015, Adolescent, Adult, Article, Barry Albright Dystonia Scale, Boy N, Burgard P, characteristics, Child, Clinical Article, Cognition, cognitive development, continuous performance test, Controlled Study, Cross Sectional Study, Dystonia, dystonia/di [Diagnosis], enzyme deficiency, Female, Garbade S F, Glahn E M, Glutaric acidemia type I, glutaric aciduria type I, Haege G, Heringer J, Hoffmann G F, Human, Information Processing, Kolker S, Male, Metabolic Disorder, motor dysfunction, motor performance, neurologic disease assessment, newborn screening, Orphanet Journal Of Rare Diseases, response time, tone and motor problems, Trajectory, visual memory, visuomotor coordination, working memory
Effect of selective dorsal rhizotomy on daily care and comfort in non-walking children and adolescents with severe spasticity
Tags: 2017, Adolescent, Attention, Becher J G, Bolster E A M, Buizer A I, Cerebral Palsy, Child, Clinical Article, Comfort, Congenital Malformation, Controlled Study, dorsal rhizotomy, Dystonia, European Journal of Paediatric Neurology, Follow Up, Human, leg muscle, lipidoses, Medical History, Pain, risk factor, Satisfaction, School Child, scoliosis, selective dorsal rhizotomy, Spasticity, Stadhouder A, Strijers R L, surgical intervention, tone and motor problems, van de Pol L A, van Ouwerkerk W J, van Schie P E M, Vermeulen R J
The effect of hand splints on stereotypic hand behavior in Rett's syndrome
Comparison of three clinical rating scales in Friedreich ataxia (FRDA)
Tags: 2009, ataxia, Boesch S, Bürk K, characteristics, Degen I, Dimitriadis K, Dörr J M, Friedreich's ataxia, Haug V, Heck S, Hering S, Ivo A, Klockgether T, Klopstock T, Kruse B, Lindig T M, Mälzig U, Movement Disorders, Ratzka S, Schmitz-Hübsch T, Schols L, Schulz J B, Timmann D, tone and motor problems, Trajectory, Wolf S
Successful treatment of cataplexy in patients with early-infantile Niemann-Pick disease type C: use of tricyclic antidepressants
International Cooperative Ataxia Rating Scale (ICARS): Appropriate for studies of Friedreich's ataxia?
Polysomnographic findings in Rett syndrome: a case-control study
Tags: 2013, Bravaccio C, breathing difficulties, Carotenuto M, Case-Control Studies, Cerebral Cortex, characteristics, Child, D'Aniello A, Elia M, Esposito M, Female, Humans, obstructive apnea, Pascotto A, periodic limb movement, Polysomnography, Precenzano F, Reference Values, Rett syndrome, Rippa C D, Signal Processing Computer-Assisted, Sleep, Sleep REM, Sleep & Breathing, sleep disturbance, tone and motor problems, Trajectory, Wakefulness
Stereotypical Hand Movements in 144 Subjects with Rett Syndrome from the Population-Based Australian Database
Tags: 2010, Bebbington A, Behavior, Carter P, characteristics, Downs J, features, females, Genotype, hand function, hand stereotypies, Jacoby P, Kaufmann W E, Leonard H, mecp2 mutations, Movement Disorders, Neurosciences & Neurology, Phenotype, Rett syndrome, severity, stereotypic movement disorder, tone and motor problems, Trajectory, Video Recording, Williams S
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration
Severity score system for progressive myelopathy: development and validation of a new clinical scale
Tags: 2012, Adrenomyeloneuropathy, Blank D, Castilhos R M, Fernandes L N T, Giugliani R, Jardim L B, MPS I, MPSIV, Mucolipidosis, myelopathy, Netto C B O, scale development, Schwartz I V D, Souza C F M, The Brazilian Journal of Medical and Biological Research, tone and motor problems, tool development
A national survey of Rett syndrome: age, clinical characteristics, current abilities, and health
Tags: 2015, American Journal of Medical Genetics Part A, bowel problems, breathing difficulties, characteristics, Cianfaglione R, Clarke A, Constipation, Epilepsy, feeding difficulties, Felce D, gastrointestinal problems, Hastings R P, Kerr M, Oliver C, Rett syndrome, tone and motor problems, Trajectory, weight
A national survey of Rett syndrome: behavioural characteristics
Tags: 2015, anxiety, Behavior, breathing difficulties, breathing problems, characteristics, Cianfaglione R, Clarke A, Felce D, hand stereotypies, Hastings R P, Heald M, inappropriate fear, Journal of Neurodevelopmental Disorders, Kerr M, Moss J, Oliver C, Rett syndrome, sleep problems, stereotypy, tone and motor problems, Trajectory
Direct Observation of the Behaviour of Females with Rett Syndrome
A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome
Tags: 2002, Adolescent, Adult, Aggression, Aggression/psychology, Behavior, characteristics, Child, Collins M S, Comorbidity, Cornish K, Cri-du-chat, Cri-du-Chat Syndrome/epidemiology, Female, Humans, Journal Of Intellectual Disability Research, Male, Prevalence, Self-Injurious Behavior/epidemiology, self-injury, Stereotypic Movement Disorder/epidemiology, stereotypy, Surveys And Questionnaires, tone and motor problems, Trajectory
A comparison of three measures of upper limb function in Friedreich ataxia
Developmental and behavioural characteristics of cri du chat syndrome
Tags: 1996, Archives of Disease in Childhood, Behavior, bowel incontinence, characteristics, clumsiness, Cornish K M, Cri-du-chat, feeding difficulties, obsessive attachment to objects, Pigram J, repetitive movements, self-injury, sound hypersensitivity, tone and motor problems, Trajectory, urinary incontinence