Browse Items (109 total)
- Tags: tone and motor problems
Prophylactic effect of L 5 hydroxytryptophan on self mutilation in the Lesch Nyhan syndrome
Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients
Tags: 2014, Ash M, Bertini E, Bianco F, Bushby K, Colia G, D'Amico A, De Sanctis R, de Viesser M, de Vries R, Eagle M, Fanelli L, Febrer A, Goemans N, HMFS, Jeukens M, Korinthenberg R, Main M, Mata J F, Mayhew A, Mazzone E, Mercuri E, MFM, Muntoni F, Neuromuscular Diseases, Neuromuscular Disorders, Neurosciences & Neurology, Outcome measures, Palermo C, Pane M, responsiveness, scale development, Schaefer K, Scoto M, Servais L, SMA1, Spinal Muscular Atrophy, spinal muscular-atrophy, tone and motor problems, tool development, Totoescu A, trial, VALIDATION, van den Hauwe M, Vigo M, Voit T, walk test
The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study
Improving functional skills and physical fitness in children with Rett syndrome
Tags: 2004, Activities of Daily Living/psychology, Child, daily conductive educational program, Education of Intellectually Disabled, Exercise/psychology, Feasibility Studies, Female, Humans, Isakov E, Journal Of Intellectual Disability Research, Lotan M, Merrick J, Motor Skills, Physical Fitness, psychological intervention, Rett syndrome, Rett Syndrome/psychology/rehabilitation, Social Behavior, Statistics as Topic, tone and motor problems, Treatment Outcome
Subthalamic Nuclei Stimulation in Patients With Pantothenate Kinase-Associated Neurodegeneration (PKAN)
Tags: 2017, Adolescent, Adult, Article, Brain Depth Stimulation, Burke Fahn Marsden Dystonia Rating Scale movement rating scale, Case Report, deep brain stimulation, Dou W, Dystonia, Female, fluency disorder, Follow Up, globus pallidus internus, Guo J, Guo Y, Human, IND, Liu Y, Liu Z, Ma W, Male, Middle Aged, neurodegeneration with brain iron accumulation/th [Therapy], neurologic disease assessment, Neurologic Examination, Neuromodulation, pantothenate kinase-associated neurodegeneration, scoring system, subthalamic nuclei, subthalamic nuclei stimulation, Subthalamic Nucleus, surgical intervention, tone and motor problems, Treatment Outcome, Wan X, Wang L, Wang R, Wang Y, Yang Y
Gabapentin can significantly improve dystonia severity and quality of life in children
Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation
Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations
Tags: 1994, Adolescent, Amino Acid Metabolism Inborn Errors/genetics/physiopathology/therapy, Brain/pathology/physiopathology, Carlsson G, characteristics, Child, Child Preschool, Combined Modality Therapy, Disability Evaluation, Dysarthria/genetics/physiopathology/therapy, Dystonia/genetics/physiopathology/therapy, dystonic-dyskinesia disorder, Female, Fossen A, Glutarates/urine, Glutaric acidemia type I, Glutaryl-CoA Dehydrogenase, Holme I, Humans, hyperkinetic disorder, Infant, Infant Newborn, Intellectual Disability/genetics/physiopathology/therapy, Jellum E, Kyllerman M, Lundberg M, Male, Movement Disorders, Movement Disorders/genetics/physiopathology/therapy, Neurologic Examination, Neuropsychological Tests, Oxidoreductases Acting on CH-CH Group Donors, Oxidoreductases/deficiency, Skjeldal O H, Tomography X-Ray Computed, tone and motor problems, Trajectory, von Dobeln U
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
Effective treatment of spasticity using dronabinol in pediatric palliative care
Reliability and Validity of the TIMPSI for Infants With Spinal Muscular Atrophy Type I
Tags: 2013, assessments, Case L E, Child Development, Childhood/diagnosis, childhood/physiopathology, Children, Female, functional motor scale, Hartman J T, Hecker E, Humans, Infant, Kienitz K, King W, Krosschell K J, Leveille M, Male, Mazulski J A, Meffert M, motor, Observer Variation, Pediatric Physical Therapy, Pediatrics, performance, Physical Therapy, physical therapy specialty/standards, Project Cure Spinal Muscular Atrophy Investigators, Rehabilitation, Reproducibility of Results, Roman C A, scale development, Scott C, skills/physiology, SMA1, specialty/instrumentation, spinal muscular atrophies of, Swoboda K J, TIMP, tone and motor problems, tool development, Viazzo-Trussell D, Video Recording, Wood J
A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy
Tags: 2006, Child Preschool, Contracture/di [Diagnosis], Contracture/pp [Physiopathology], Crawford T O, Disability Evaluation, HFMS, Humans, Infant, Krosschell K J, Maczulski J A, Male, Neuromuscular Disorders, Observer Variation, Reproducibility of Results, scale development, Scott C, Severity Of Illness Index, SMA1, Spinal Muscular Atrophies of Childhood/di [Diagnosis], Spinal Muscular Atrophies of Childhood/pp [Physiopathology], Swoboda K J, tone and motor problems, tool development, Videotape Recording
Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale
Tags: 2006, Adolescent, Adult, Age of Onset, Carrier Proteins/ge [Genetics], cerebellar ataxia/di [Diagnosis], Cerebellar Ataxia/ep [Epidemiology], Cerebellar Diseases/di [Diagnosis], Cerebellar Diseases/ep [Epidemiology], Child, Coll M J, Comorbidity, Disability, Dysarthria/di [Diagnosis], Dysarthria/ep [Epidemiology], Evaluation, feeding difficulties, Female, Fernandez-Valero E M, Genetic Predisposition to Disease/ge [Genetics], Infant, Iturriaga C, Journal Of The Neurological Sciences, NPC, Pineda M, Preschool, scale development, sleep disturbance, tone and motor problems, tool development, Vanier M T
Video game-based coordinative training improves ataxia in children with degenerative ataxia
Clinical trial of piracetam in patients with myoclonus: nationwide multiinstitution study in Japan. The Myoclonus/Piracetam Study Group
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
The Incidence and Evolution of Parkinsonian Rigidity in Rett Syndrome: A Pilot Study
Tags: 2016, 5 hydroxyindoleacetic acid, Adolescent, Adult, Age, ankle, Article, Barrowman N, Canadian Journal of Neurological Sciences, Cerebrospinal Fluid, characteristics, Child, Cohort Analysis, Cross-sectional Study, Disease Severity, Dopamine, Dystonia, Female, genetic susceptibility, homovanillic acid, homovanillic acid/ec [Endogenous Compound], Human, Humphreys P, hva, Incidence, Major Clinical Study, mecp2, methyl CpG binding protein 2, methyl CpG binding protein 2/ec [Endogenous Compound], missense mutation, mobilization, muscle rigidity, muscle tone, musculoskeletal disease assessment, neck, parkinsonism, Pharmacokinetics, Pilot Study, Priority Journal, Prospective Study, Quantitative Study, Rett syndrome, Rett syndrome rigidity distribution score, rigidity, scoring system, Speech, tone and motor problems, Trajectory, walking difficulty
Deep brain stimulation for dystonia: A meta-analysis
Tags: 2006, Baron M S, BFMDRS, Brown R, Carne W, cervical dystonia, Cifu D X, deep brain stimulation, Dystonia, Electric Stimulation Therapy, Follow-up, globus-pallidus internus, hemidystonia, Holloway K L, IND, meige-syndrome, Meta-Analysis, Movement Disorders, Neuromodulation, Neurosciences & Neurology, primary generalized dystonia, Ramakrishnan V, Research & Experimental Medicine, Scale, severe tardive, spasmodic torticollis, stereotaxic techniques, surgical intervention, thalamic-stimulation, tone and motor problems
Intrathecal baclofen treatment an option in X-linked adrenoleukodystrophy
Tags: 1134-47-0 (baclofen), 1309378-01-5 (botulinum toxin A), 1638949-86-6 (botulinum toxin A), 1800016-51-6 (botulinum toxin A), 2018, 93384-43-1 (botulinum toxin A), Addison disease, adrenoleukodystrophy/dt [Drug Therapy], adrenoleukodystrophy/su [Surgery], Article, baclofen, Baclofen/dt [drug Therapy], baclofen/po [Oral Drug Administration], baclofen/tl [Intrathecal Drug Administration], balance disorder, behavior change, bladder dysfunction, botulinum toxin A, Case Report, Child, Clinical Article, clinical examination, clonus, diplopia, drug dose increase, Dystonia, Ehrstedt C, European Journal of Paediatric Neurology, Fatigue, hearing disorder, Hjartarson H T, Human, hyperpigmentation, intrathecal baclofen, intrathecal pump, Leukodystrophy, limited mobility, Male, Pain, pharmacologic interventions, Priority Journal, Quality Of Life, Range of Motion, School Child, Spasticity, strabismus, Tedroff K, tone and motor problems, urinary catheter, visual disorder, X chromosome linked disorder/dt [Drug Therapy], X chromosome linked disorder/su [Surgery], X-linked adrenoleukodystrophy
Initial assessment of the StepWatch Activity Monitor (TM) to measure walking activity in Rett syndrome
Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates
Tags: 1991, achondroplasia, Achondroplasia/complications/physiopathology/psychology, American Journal Of Medical Genetics, Atrophy, Brain/pathology, characteristics, Child Preschool, Electroencephalography, Evoked Potentials Somatosensory, Female, Hecht J T, Horton W A, Humans, Infant, Intellectual Disability/etiology, Intelligence, Male, Neuropsychological Tests, Patchell L, Prospective Studies, Psychomotor Performance, Respiration Disorders/etiology/physiopathology, respiratory dysfunction, Sleep Apnea Syndromes/etiology/physiopathology, sleep disturbance, Thompson N M, tone and motor problems, Trajectory, Weir T
Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses
Hand stereotypies distinguish Rett syndrome from autism disorder
Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)
Tags: (health care), 2011, atrophies of childhood/diagnosis, Child, Child Development/physiology, childhood/physiopathology, CHOP INTEND, Chung W K, Darras B T, De Vivo D C, Deng L Y, Disability Evaluation, Disease Severity, Dunaway S, Female, Finkel R S, Flickinger J, Glanzman A M, Humans, Infant, Kaufmann P, Male, Martens W B, McDermott M P, Montes J, Motor Skills/physiology, Muscle Study Group, natural-history, O'Hagen J, outcome assessment, Pediatric Neuromuscular Clinical Research, Pediatric Physical Therapy, Pediatrics, physical therapy/methods, Preschool, Psychometrics/methods, Quigley J, Rehabilitation, Riley S, scale development, Severity Of Illness Index, Sma, SMA1, smn2 copy number, spinal muscular, spinal muscular atrophies of, spinal muscular-atrophy, Sproule D, Tawil R, tone and motor problems, tool development, Validity, Yang M
The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability
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
Robotic and clinical evaluation of upper limb motor performance in patients with Friedreich's Ataxia: an observational study
Tags: 2015, accuracy, and Rating of Ataxia, Bertini E, Cappa P, Carniel S, Castelli E, cerebellar-ataxia, Children, Coordination, Engineering, Friedreich's ataxia, Germanotta M, InMotion Arm Robot, Journal of Neuroengineering and Rehabilitation, Kinematics, Movement, multiple-sclerosis, Neurosciences & Neurology, Petrarca M, quantitative-evaluation, rating-scale, Reaching task, Rehabilitation, Robot-mediated evaluation, Rossi S, scale development, Scale for the Assessment, smoothness, stroke recovery, Submovements, Therapy, tone and motor problems, tool development, Upper limb, Vasco G
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
Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration
Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period
Tags: 2011, Adolescent, Adult, Age Factors, Arginine/genetics, Australia, Bebbington A, characteristics, Disease Progression, Downs J, Female, Foley K R, Girdler S, Humans, Jacoby P, Journal of Child Neurology, Kaufmann W E, Leonard H, Linear Models, Longitudinal Studies, Methyl-CpG-Binding Protein 2/genetics, Motor Skills/physiology, Movement Disorders/etiology/genetics, Mutation/genetics, Retrospective Studies, Rett syndrome, Rett Syndrome/complications/genetics, tone and motor problems, Trajectory, Young Adult
Rett syndrome and associated movement disorders
Tags: 1990, Adolescent, Adult, characteristics, Child, Child Preschool, Female, FitzGerald P M, gait disturbance, Humans, Infant, Jankovic J, Movement Disorders, Movement Disorders/etiology/physiopathology, Percy A K, Rett syndrome, Rett Syndrome/complications/physiopathology, Stereotyped Behavior, stereotypy, tone and motor problems, Trajectory
The test of infant motor performance: reliability in spinal muscular atrophy type I
The Increase of Attention in Rett Syndrome: A Pre-Test/Post-Test Research Design
Tags: 2011, alertness, Attention process, Children, Fabio R A, Giannatiempo S, girls, Intervention, Journal of Developmental and Physical Disabilities, Murdaca A M, Oliva P, physiological intervention, Psycho-educational, Rehabilitation, Rett syndrome, SELECTIVE ATTENTION, selective attention training, Technology, tone and motor problems, Training, trial
Observations on hand movements in Rett syndrome: A pilot study
Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective
Tags: 2017, Actigraphy, Autism, D'Gama A M, definitions, Dy M E, girls, hand stereotypies, Kapur K, Kaufmann W E, Neurosciences & Neurology, O'Leary H, operational, Pediatric Neurology, Pediatrics, Regression, Rett syndrome, Sahin M, scale development, Sharma N, tone and motor problems, tool development, Urion D K, video analysis, Waugh J L
Validating the Rett Syndrome Gross Motor Scale
Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome
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
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
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