Browse Items (109 total)
- Tags: tone and motor problems
A comparison of three measures of upper limb function in Friedreich ataxia
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
A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis
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
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
A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia
Tags: 2012, ataxia, ataxia telangectasia, betamethasone, Betti G, Brusco A, Buoni S, Chessa L, Finocchi A, Fois A, Hayek J, Kelly C, Leuzzi V, Martino S, Micheli R, Misiani F, Movement Disorders, pharmacologic intervention, Pietrogrande M C, Plebani A, Rossi L N, Salvucci S, Soresina A, tone and motor problems, Zannolli R
A structured assessment of motor function, behavior, and communication in patients with Wolf-Hirschhorn 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
An analogue assessment of repetitive hand behaviours in girls and young women with Rett syndrome
An evaluation of rating scales utilized for deep brain stimulation for dystonia
Tags: 2010, cervical dystonia, deep brain stimulation, Dystonia, electrical-stimulation, Foote K D, globus pallidus internus, globus-pallidus internus, Jacobson C E, Journal Of Neurology, Malaty I A, Mishra M, movement-disorders, Neurosciences & Neurology, Okun M S, Outcome, pallidotomy, primary generalized dystonia, Q3 conditions, Rating, Rodriguez R L, scale development, scales, secondary dystonia, segmental dystonia, Sun A Q, surgical intervention, Susatia F, term-follow-up, tone and motor problems, tool development, torsion dystonia, ul Haq I, unspecified Q3 conditions, Wu S S, Zeilman P R
Anti-parkinson drugs in the Batten-Spielmeyer-Vogt syndrome; a pilot trial
Tags: 1982, Adolescent, Adult, amantadine, Amantadine/therapeutic use, Antiparkinson Agents/therapeutic use, Benserazide/therapeutic use, Clinical Neurology and Neurosurgery, Drug Combinations/therapeutic use, Humans, Levodopa/therapeutic use, Lipidoses/drug therapy, madopar, NCL3, orfenadrine, pharmacologic intervention, Psychoses Substance-Induced/etiology, Syndrome, tone and motor problems, van der Zee H J, van Nieuwenhuizen O, Zweije-Hofman I L
Behavioural phenotype of Cornelia de Lange syndrome
Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders
Tags: 2013, annotation, Behavior, challenging behavior, characteristics, Children, clinical variability, Cross E M, Endocrinology & Metabolism, Genetics & Heredity, Hare D J, hunters, Journal Of Inherited Metabolic Disease, Medicine, mental-retardation, mild, MPSI, MPSII, MPSIIIA, MPSIIIB, Research & Experimental, sanfilippo b-disease, sleep disturbance, Syndrome, tone and motor problems, Trajectory
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
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
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
Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses
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
Characterizing gait, locomotor status, and disease severity in children and adolescents with Friedreich ataxia
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study
Tags: 2017, Adolescent, Adult, Aged, Aguilera-Albesa S, Behavior, Castro C A, Child, Coelho M, Cognitive Dysfunction/di [Diagnosis], Cognitive Dysfunction/et [Etiology], Correia G L, Costa C, Cross-sectional Studies, Cuadras P D, Darling A, Disabled Persons, dystonia/di [Diagnosis], Dystonia/et [Etiology], Espinos C, Ferreira J, Garcia P J, Garrido C, Gaston I, Gavilan I T, Gonzalez G L, Gutierrez F, Hernandez L C, Humans, IND, Lin J P, Lorenzo S G, Lupo V, Madruga M, Magalhaes M, Marti M J, Marti S L, Martinez-Martin P, Martorell L, Mental Disorders/di [Diagnosis], Mental Disorders/et [Etiology], Middle Aged, Moreira F, Movement Disorders, Nardocci N, Ocular Motility Disorders/di [Diagnosis], Ocular Motility Disorders/et [Etiology], Ortigoza E J D, Pantothenate Kinase-Associated Neurodegeneration/co [Complications], Pantothenate Kinase-Associated Neurodegeneration/di [Diagnosis], Pantothenate Kinase-Associated Neurodegeneration/ge [Genetics], Parkinsonian Disorders/di [Diagnosis], Parkinsonian Disorders/et [Etiology], Perez D B, Pilot Projects, Pires P, PKANDRS, Pons R, Pujol M, Ramos L J, Rego P, Reproducibility of Results, Rodriguez-Blazquez C, scale development, Severity Of Illness Index, Stamelou M, Stefanis L, Tello C, Temudo T, Tomas V M, tone and motor problems, tool development, Tustin K, Vela L, Young Adult, Zorzi G
Clinical trial of piracetam in patients with myoclonus: nationwide multiinstitution study in Japan. The Myoclonus/Piracetam Study Group
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
Comparative Effects of Bilateral Hand Splints and an Elbow Orthosis on Stereotypic Hand Movements and Toy Play In 2 Children with Rett Syndrome
Comparing PECS and VOCA to promote communication opportunities and to reduce stereotyped behaviors by three girls with Rett syndrome
Tags: 2 boys, 2014, Albano V, Augmentative and alternative communication, Autism, contact, Damiani R, De Pace C, DEVELOPMENTAL, Developmental-disabilities, Di Leone A, Disabilities, Education & Educational Research, environmental stimuli, Indices of happiness, keyboard emulator, microswitch-based programs, motor disabilities, Perilli V, physical intervention, Picture exchange communication systems, profound multiple disabilities, Psychiatry, Psychology, Quality Of Life, quality-of-life, Rehabilitation, Research In Autism Spectrum Disorders, Rett syndrome, Social, spectrum disorders, Stasolla F, stereotypies, tone and motor problems, Vocal output communication aid
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
Considerations in deep brain stimulation (DBS) for pediatric secondary dystonia
Tags: 2017, cerebral-palsy, Childs Nervous System, deep brain stimulation, Dystonia, globus-pallidus internus, Granader Y, hemidystonia, IND, Keating R F, Lavenstein B, Neurosciences & Neurology, Oluigbo C O, Pediatric neurosurgery, Pediatrics, Reddy S K, secondary dystonia, Surgery, surgical intervention, surgical-treatment, Tochen L, tone and motor problems, Tsering D
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
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
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]
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
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
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
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: An update
Tags: 2016, 7 dehydrocholesterol/ec [Endogenous Compound], 8 dehydrocholesterol/ec [Endogenous Compound], adaptive behavior, Adolescent, Adult, Aggression, Albert P, Article, Autism, automutilation, Behavior, Bianconi S, Bukelis I, Case Study, cerebrospinal fluid level, characteristics, Child, Child Rearing, childhood, cholesterol/ec [Endogenous Compound], Clinical Article, Cognition, delayed development, development, Developmental delay, Farmer C, Female, Human, Intelligence Quotient, Interpersonal Communication, Joseph L, Journal of Neurodevelopmental Disorders, Lanham D, Male, Observational Study, Parent, Porter F D, Preschool Child, Priority Journal, problem behavior, Sarphare G, Smith Lemli Opitz syndrome, Smith-Lemli-Opitz syndrome, Socialization, Stanford-Binet Intelligence Scale, Sterols, Swedo S, Thurm A, Tierney E, tone and motor problems, Trajectory, Unclassified Drug, Walking, Wassif C A, Wheeler C, Young Adult
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
Direct Observation of the Behaviour of Females with Rett Syndrome
Disorders of Upper Limb Movements in Ataxia-Telangiectasia
Tags: 2013, abnormal involuntary movements, accelerometry, Adolescent, Adult, Age Factors, ataxia telangiectasia, Ataxia Telangiectasia/pp [Physiopathology], Biomechanical Phenomena, characteristics, Child, Child Preschool, Crawford T O, Cross-sectional Studies, Female, Humans, kinetic tremor, Lederman H M, Male, Mandir A S, Motor Activity, Motor Activity/ph [Physiology], Movement, Movement Disorders/pp [Physiopathology], Movement/ph [Physiology], Periodicity, PLoS One, postural tremor, Posture/ph [Physiology], resting tremor, Severity Of Illness Index, Shaikh A G, tone and motor problems, Trajectory, Tremor/pp [Physiopathology], Upper Extremity, Upper Extremity/pp [Physiopathology], Young Adult, Zee D S
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
Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation
Tags: 2010, Adolescent, Adult, bilateral pallidal stimulation, Brain, Brain Diseases/physiopathology/therapy, Brain/physiopathology, Child, Child Preschool, Deep Brain Stimulation/adverse effects/methods, Dystonia, Dystonia/physiopathology/therapy, Female, Functional Laterality, Gill S S, Globus Pallidus/physiopathology, Haenggeli C A, Hayflick S J, Hogarth P, Humans, IND, Infant, Iron/metabolism, Jech R, Kurlemann G, Leenders K L, Limousin P, Malanga C J, Male, Moro E, Neurodegenerative Diseases/physiopathology/therapy, Ostrem J L, Pauls K A, Peker S, Retrospective Studies, Revilla F J, Santens P, Schnitzler A, Sharma N, surgical intervention, Timmermann L, Tisch S, tone and motor problems, Treatment Outcome, Valldeoriola F, Vesper J, Volkmann J, Wieland K, Woitalla D, Young Adult