Browse Items (109 total)
- Tags: tone and motor problems
Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration
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
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
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
The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability
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
Hand stereotypies distinguish Rett syndrome from autism disorder
Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses
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
Initial assessment of the StepWatch Activity Monitor (TM) to measure walking activity in Rett syndrome
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
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
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
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
Clinical trial of piracetam in patients with myoclonus: nationwide multiinstitution study in Japan. The Myoclonus/Piracetam Study Group
Video game-based coordinative training improves ataxia in children with degenerative ataxia
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
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
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
Effective treatment of spasticity using dronabinol in pediatric palliative care
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
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
Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation
Gabapentin can significantly improve dystonia severity and quality of life in children
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
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
The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study
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
Prophylactic effect of L 5 hydroxytryptophan on self mutilation in the Lesch Nyhan syndrome
Feed-induced Dystonias in Children with Severe Central Nervous System Disorders
Tags: 1134-47-0 (baclofen), 2017, acquired brain injury, Adolescent, Article, Baclofen/dt [drug Therapy], baclofen/tl [Intrathecal Drug Administration], Campbell D I, Case Study, central nervous system disease, Cerebral Palsy, Child, Clinical Article, Constipation, Dystonia, dystonia/dt [Drug Therapy], feed induced dystonia, feed induced dystonia/dt [Drug Therapy], feeding difficulties, Female, Gastroesophageal Reflux, Gastroscopy, GERD, Human, Hydrocephalus, Hyperglycinemia, Infant, infantile spasm, intestinal dysmotility, intestine motility, Intestine Obstruction, Journal Of Pediatric Gastroenterology And Nutrition, Male, microcephaly, Mordekar S R, motor dysfunction, MPSIII, onset age, Parenteral Nutrition, Percutaneous Endoscopic Gastrostomy, peristalsis, pharmacologic intervention, Practice Guideline, Preschool Child, Priority Journal, reflux esophagitis, Retrospective Study, Rett syndrome, Sanfilippo syndrome, School Child, tone and motor problems, total parenteral nutrition, Velayudhan M, West syndrome
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
The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome
Tags: 2002, Adolescents, behavioral problems, behavioural phenotype, breathing difficulties, Cass H, Charman T, Children, cpg-binding protein-2, Diagnosis, Epidemiology, Hastings R P, Intellectual Disability, Journal Of Child Psychology And Psychiatry, mecp2, mecp2 mutations, Mental Retardation, mental-retardation, Mount R H, population prevalence, Psychiatry, Psychology, psychopathology, Questionnaire, Reilly S, Rett syndrome, RSBQ, scale development, sleep disturbance, tone and motor problems, tool development, x-chromosome inactivation
A structured assessment of motor function, behavior, and communication in patients with Wolf-Hirschhorn syndrome
Effect of hand splints on stereotypic hand behavior of three girls with Rett syndrome
Tags: 1988, Adolescent, Autistic disorder, Billingsley F F, Child, Female, finger-feeding skills, Hand, hand splints, Humans, Intellectual Disability, Naganuma G M, Neuromuscular Diseases/rehabilitation, physical intervention, Physical Therapy, Rett syndrome, splints, Stereotyped Behavior, stereotypic hand behavior, Syndrome, Thumb abduction splints, tone and motor problems
Botulinum Toxin Type A for the Treatment of Equinus Deformity in Patients With Mucopolysaccharidosis Type II
Tags: 2012, botulinum toxin type A, cerebral-palsy, Children, Disease, equinus deformity, Gautschi M, Grunt S, Hunter syndrome, hunter-syndrome, II, Journal of Child Neurology, Management, MPSII, mucopolysaccharidosis type, Nava E, Neurosciences & Neurology, Nuoffer J M, Pediatrics, pharmacologic intervention, physical intervention, Physical Therapy, Recommendations, serial casting, skeletal-muscle, tone and motor problems, Weber P
The gross motor function measure is a valid and sensitive outcome measure for spinal muscular atrophy
Tags: 2006, Adolescent, Child, Child Preschool, Clinical Trials as Topic, Endpoint Determination, Female, GMFM, Humans, Hynan L S, Iannaccone S T, Male, Motor Activity/physiology, Nelson L, Neuromuscular Disorders, Outcome Assessment (Health Care)/methods, Owens H, Psychomotor Performance/physiology, scale development, Sensitivity and Specificity, Severity Of Illness Index, SMA1, Spinal Muscular Atrophies of Childhood/drug therapy/physiopathology, tone and motor problems, tool development
Development of global rating instruments for pediatric patients with ataxia telangiectasia
Tags: 2016, Adolescent, ataxia telangiectasia, ataxia telangiectasia/di [Diagnosis], Ataxia Telangiectasia/ep [Epidemiology], Ben-Zeev B, Borgohain R, Brief Ataxia Rating Scale, Child, Child Preschool, D'Agnano D, European Journal of Paediatric Neurology, Female, Hegde A U, Humans, ICARS, Leuzzi V, Male, Micheli R, Molinaro A, Mridula K R, Nissenkorn A, Pediatrics/mt [methods], SARA, scale development, Severity Of Illness Index, tone and motor problems, tool development, Yareeda S
Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate
Tags: 0 (Antiparkinson Agents), 2013, Adolescent, amantadine sulfate, Amantadine/tu [Therapeutic Use], Antiparkinson Agents/Antiparkinson [Therapeutic Use], ataxia telangiectasia, Ataxia Telangiectasia/co [Complications], Ben-Zeev B, BF4C9Z1J53 (Amantadine), Child, Disability, Evaluation, Hassin-Baer S, Humans, Journal of Child Neurology, Lerman S F, Levi Y B, Movement Disorders/dt [Drug Therapy], Movement Disorders/et [Etiology], Neurologic Examination, Nissenkorn A, pharmacologic intervention, Preschool, Prospective Studies, Severity Of Illness Index, tone and motor problems, Tzadok M