Browse Items (7 total)
- Tags: mecp2
Variations of Stereotypies in Individuals With Rett Syndrome: A Nationwide Cross-Sectional Study in Taiwan
Tags: 2017, Autism, Autism Research, Behavioral Sciences, bruxism, CDKL5, characteristics, chinese patients, Disorders, Epilepsy, Ganglia, girls, hair pulling, Hung P L, Jan T Y, Lee W T, lip protrusion, manifestations, mecp2, mecp2 mutations, motor stereotypies, Movement Disorders, Psychology, retropulsion, Rett syndrome, stereotypies, stereotypy, tone and motor problems, Trajectory, Wong L C
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
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
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
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
Hand stereotypies distinguish Rett syndrome from autism disorder
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