Browse Items (109 total)
- Tags: tone and motor problems
Longitudinal Hand Function in Rett Syndrome
Gross motor profile in rett syndrome as determined by video analysis
Orthopedic manifestations and implications for individuals with Costello syndrome
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
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
Characterizing gait, locomotor status, and disease severity in children and adolescents with 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
A comparison of three measures of upper limb function in Friedreich ataxia
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
Direct Observation of the Behaviour of Females with Rett Syndrome
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
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
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration
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
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
International Cooperative Ataxia Rating Scale (ICARS): Appropriate for studies of Friedreich's ataxia?
Successful treatment of cataplexy in patients with early-infantile Niemann-Pick disease type C: use of tricyclic antidepressants
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
The effect of hand splints on stereotypic hand behavior in Rett's syndrome
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
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
Levodopa is not a useful treatment for Lesch-Nyhan disease
Behavioural phenotype of Cornelia de Lange 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]
The use and effectiveness of elbow splints in the Rett syndrome
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
A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis
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