Browse Items (74 total)
- Tags: Rett syndrome
Hand stereotypies distinguish Rett syndrome from autism disorder
Guided eating or feeding: three girls with Rett syndrome
Tags: 2009, Activity, being fed, Children, dyspraxia, Eliasson A C, engagement, Engerstrom I W, guided eating, hand function, hand splints, hand use, involvement, movements, Occupational Therapy, Participation, psychological intervention, Qvarfordt I, Rehabilitation, Rett syndrome, Scandinavian Journal of Occupational Therapy, skills, stereotyped hand movements, tone and motor problems
Gross motor profile in rett syndrome as determined by video analysis
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
Findings from a multidisciplinary clinical case series of females with Rett 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
Evolution of Stereotypies in Adolescents and Women with 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
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
Effect of hand splints on stereotypic hand behavior of girls with Rett syndrome: a replication study
Eating difficulties in girls with Rett syndrome compared with other developmental disabilities
Dysphagia in Rett Syndrome: A Descriptive Study
Tags: 2017, Adolescent, Annals of Otology, Rhinology and Laryngology, apraxia, Bronchitis, Caregiver, characteristics, Child, Cocca S, Complication, De Felice C, Deterioration, Diagnosis, drug fatality, Dysphagia, Feeding, feeding difficulties, Female, hand movement, Human, Human Tissue, Livi W, Major Clinical Study, Mezzedimi C, neuropsychiatry, Normal Human, Otorhinolaryngology, Prevention, progressive feeding deterioration, Psychosexual Development, Rett syndrome, Speech, tongue, Trajectory
Disturbances in cardiorespiratory function during day and night in Rett syndrome
Direct Observation of the Behaviour of Females with Rett Syndrome
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
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
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
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
Comparative Effects of Bilateral Hand Splints and an Elbow Orthosis on Stereotypic Hand Movements and Toy Play In 2 Children with Rett Syndrome
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
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
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
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
Autonomic nervous system dysregulation: Breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome
Tags: 2006, Bennett H L, Boothby C M, breathing difficulties, characteristics, Disorder, dysfunction, explanation, hyperventilation, increased breathing frequency, increased mean airflow increased hear rate, irregular breathing, Kenny A S, Lieske S P, long qt syndrome, mecp2, mutations, Patterns, Pediatric Research, Pediatrics, Ramirez J M, Rett syndrome, Silvestri J M, sudden-death, Trajectory, Weese-Mayer D E
Autonomic Dysregulation in Young Girls With Rett Syndrome During Nighttime in-Home Recordings
Tags: 2008, autonomic dysregulation, Bennett H L, Boothby C M, breathing difficulties, cardiorespiratory dysregulation, characteristics, Disorder, disturbances, dysfunction, hyperventilation, increased breathing frequency, irregular breathing, Kenny A S, Lieske S P, mecp2 mutations, Mice, nervous-system, Patterns, Pediatric Pulmonology, Pediatrics, Ramirez J M, Respiratory System, Rett syndrome, Trajectory, Weese-Mayer D E
Autonomic breathing abnormalities in Rett syndrome: Caregiver perspectives in an international database study
Tags: 2017, abdominal bloating, Adult, Article, autonomic dysfunction, bloating, breath holding, breath-holding, breathing difficulties, breathing disorder, Breathing disorders, breathing pattern, Caregiver, characteristics, Child, Data Base, Developmental Disability, Downs J, Epstein A, Female, Genotype, Heyworth J, Human, hyperventilation, International database, Journal of Neurodevelopmental Disorders, Leonard H, MacKay J, Male, mecp2, Mutation, Noninvasive Ventilation, onset age, oxygen, Priority Journal, Questionnaire, Rare disorder, rebreathing, Rett syndrome, School Child, Trajectory, Wong K
Attention and communication in 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
An analogue assessment of repetitive hand behaviours in girls and young women with Rett syndrome
Air swallowing in Rett syndrome
Tags: 2000, Adolescent, Adult, Aerophagy/di [Diagnosis], Aerophagy/pp [Physiopathology], Aerophagy/px [Psychology], air bloat, Apnea/di [Diagnosis], Apnea/pp [Physiopathology], Apnea/px [Psychology], Child, Child Preschool, Developmental Medicine and Child Neurology, Ellis R E, Feeding Behavior/ph [Physiology], feeding difficulties, Female, Fluoroscopy, gum shield, hollow tube, Humans, hyperventilation, Larynx/pp [Physiopathology], Morton R E, palatal training devices, physical intervention, Pinnington L, Rett syndrome, Rett Syndrome/di [Diagnosis], Rett Syndrome/pp [Physiopathology], Rett Syndrome/px [Psychology], Risk Factors, Stress Psychological/co [Complications], Video Recording
Aberrant sleep patterns in children with the Rett syndrome
Tags: 1990, Adolescence, Adolescent, Adult, Aging, Bowman L, Brain and Development, characteristics, Child, Child Preschool, Female, Fisher W, Human, Humans, Infant, Kiesewetter K, Moser H, NET Files, Piazza C C, Rett syndrome, Rett Syndrome/co [Complications], Rett Syndrome/complications/drug therapy, Rett Syndrome/dt [Drug Therapy], Sleep Disorders/co [Complications], sleep disturbance/disorders, Sleep Stages/ph [Physiology], Sleep Stages/physiology, Sleep Wake Disorders/complications, Trajectory
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