Browse Items (74 total)
- Tags: Rett syndrome
End of life care in children with neurodisability and concurrent palliative care needs: An audit of local Paediatric palliative services
Tags: 2019, Archives of Disease in Childhood, August 2019 List, Awareness, Canavan disease, Cerebral Palsy, Child, Clinical Article, conference abstract, Decision Making, disorders of mitochondrial functions, Documentation, Female, Hqli F, Human, Male, Medical Specialist, Monitoring, Nutrition, Pain, Palliative Therapy, Rett syndrome, Santhanam G, School Child, secondary health care, Seizure, Social Care, Spinal Muscular Atrophy, Terminal Care
Co-occurrence of Dystonic and Dyskinetic Tongue Movements with Oral Apraxia in Post-regression Dysphagia in Classical Rett Syndrome Years of Life 1 Through 5
Tags: 2015, Abraham S S, characteristics, Classical Rett syndrome, Deglutition, Disorders, Djukic A, dysfunction, Dyskinesia, dysmotility, Dysphagia, Dystonia, Early Pseudostationary stage, feeding difficulties, Fluoroscopy, Genotype, girls, mecp2 mutations, Otorhinolaryngology, Phenotype, Rett syndrome, Swallowing, Taragin B, tone and motor, Trajectory, Videofluoroscopic study of swallowing, Women
The use and effectiveness of elbow splints in the Rett syndrome
Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales
Tags: 2015, anxiety, Autism spectrum disorder, Barnes K V, Bazin G A, Behavior, Beinecke E B, breathing difficulties, Bruck N, Cantwell N G, characteristics, Checklist, Children, Coughlin F R, Down-syndrome, fragile-x-syndrome, Intellectual disabilities, Journal of Neurodevelopmental Disorders, Kaufmann W E, mecp2, mental-retardation, mouse model, Neurosciences & Neurology, O'Leary H M, Problematic behavior, quality-of-life, Rett syndrome, severity, sleep disturbance, Social avoidance, Trajectory, Walco A C
Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype
Tags: 0 (Methyl-CpG-Binding Protein 2), 2016, Adolescent, Adult, American Journal of Medical Genetics Part A, Anderson B, Boban S, characteristics, Child, Child Preschool, Downs J, Epilepsy/di [diagnosis], Epilepsy/ge [Genetics], Epstein A, Genetic Association Studies, Genotype, Humans, Infant, Infant Newborn, Leonard H, Methyl-CpG-Binding Protein 2/ge [Genetics], Middle Aged, Murphy N, Mutation, Phenotype, Rett syndrome, Rett Syndrome/di [Diagnosis], Rett Syndrome/ge [Genetics], Rett Syndrome/pp [Physiopathology], Severity Of Illness Index, sleep disturbance/disorders, Sleep Wake Disorders/di [Diagnosis], Sleep Wake Disorders/ge [Genetics], Trajectory, Wong K, Young Adult
Sleep problems and their management in Rett syndrome
The effect of hand splints on stereotypic hand behavior in Rett's syndrome
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
Findings from a multidisciplinary clinical case series of females with Rett syndrome
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 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
Direct Observation of the Behaviour of Females with Rett Syndrome
Prolonged-release melatonin for children with neurodevelopmental disorders
Sleep problems and daytime problem behaviours in children with intellectual disability
Tags: 2002, Adolescents, adults, Behavior, breathing difficulties, challenging behavior, characteristics, Children, community-based sample, daytime problem behaviour, de Vries M, Didden R, difficulties, Disorders, disturbance, Education & Educational Research, Genetics & Heredity, handicapped-children, Intellectual Disability, Journal Of Intellectual Disability Research, Korzilius H, Neurology, Neurosciences &, Psychiatry, Rehabilitation, Rett syndrome, severe learning-disabilities, sleep disturbance, sleep problem, Trajectory, Tuberous Sclerosis, urinary incontinence, van Aperlo B, van Overloop C
Gross motor profile in rett syndrome as determined by video analysis
Longitudinal Hand Function 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
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
Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome
Validating the Rett Syndrome Gross Motor Scale
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
Observations on hand movements in Rett syndrome: A pilot study
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
Attention and communication in Rett Syndrome
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
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
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
Incontinence in Individuals with Rett Syndrome: A Comparative Study
Tags: 2012, adaptive functioning, Adolescents, behavioral-phenotype, bowel incontinence, characteristics, Children, Comparative Study, Curfs L M G, Didden R, Disorders, enuresis, Epidemiology, fecal incontinence, females, Giesbers S, Incontinence, Intellectual Disability, Journal of Developmental and Physical Disabilities, Korzilius H, Lang R, mental-retardation, Radstaake M, Rehabilitation, Rett syndrome, Smeets E, Trajectory, urinary incontinence, von Gontard A
Rett's syndrome: Characterization of respiratory patterns and sleep
Tags: 1987, abnormal respiratory problems, abnormal sleep patterns, Annals Of Neurology, ataxia, Autism, breathing difficulties, Central Nervous System, characteristics, Child, Dementia, Diagnosis, etiology, Frost Jr J D, Glaze D G, heredity, Human, hyperpnea, Major Clinical Study, Percy A K, Priority Journal, Respiratory System, Rett syndrome, Seizure, Sleep, sleep disturbance, Trajectory, Zoghbi H Y
Hand stereotypies distinguish Rett syndrome from autism disorder
Respiratory disturbances in rett syndrome: Don't forget to evaluate upper airway obstruction
Initial assessment of the StepWatch Activity Monitor (TM) to measure walking activity in Rett syndrome
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
Eating difficulties in girls with Rett syndrome compared with other developmental disabilities
Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder
Tags: 2001, abnormal respiratory rhythm, Al-Rawas S, angiotensin-ii, Apartopoulos F, Archives of Disease in Childhood, autonomic system, brain stem, breathing difficulties, characteristics, component, Dysautonomia, Engerstrom I W, Engerstrom L, Hansen S, hyperventilation, immaturity, Jamal G A, Julu P O O, Kerr A M, Neurons, nucleus-tractus-solitarii, Pediatrics, protein-2, real-time, reflexes, Rett disorder, Rett syndrome, Trajectory, vagal tone
Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome
Tags: 2012, Adolescent, Adult, Age Factors, Annese F, Barrish J O, Bone Diseases/complications/epidemiology, Caeg E, characteristics, Child, Child Preschool, Child Nutrition Disorders/epidemiology/etiology/genetics, Constipation, dysmotility, Dysphagia, feeding difficulties, Female, Gastrointestinal Diseases/epidemiology/etiology/genetics, gastrointestinal dysmotility, Geerts S, Glaze D G, Growth Disorders/epidemiology/etiology/genetics, Health Surveys, Humans, Infant, Infant Nutrition Disorders/epidemiology/etiology/genetics, Journal Of Pediatric Gastroenterology And Nutrition, Lane J B, Lee H S, Male, McNair L, Methyl-CpG-Binding Protein 2/genetics, Motil K J, Mutation, Neul J L, Nutrition Disorders/epidemiology/etiology/genetics, Parents, Percy A K, Prevalence, Rett syndrome, Rett Syndrome/complications/genetics, Skinner S A, Surveys And Questionnaires, Trajectory, Young Adult
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