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Variations of Stereotypies in Individuals With Rett Syndrome: A Nationwide Cross-Sectional Study in Taiwan

Individuals with Rett syndrome (RTT) can have variable manifestations of stereotypies. In this nation-wide cross-sectional study, we recruited all individuals with RTT in Taiwan diagnosed as RTT by neurologists based on genetic findings and…

Validating the Rett Syndrome Gross Motor Scale

© 2016 Downs et al. Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross…

Tags: 2016, Bisgaard A, Downs J, Jacoby P, Leonard H, PLoS One, Rett syndrome, RSGMS, scale development, Stahlhut M, Syhler B, tone and motor problems, tool development, Wong K

The use of pulse oximetry as a screening assessment for paediatric neurogenic dysphagia

Purpose: Early screening and intervention for dysphagia is crucial to offset potential outcomes such as compromised nutrition or reduced respiratory function. Current paediatric dysphagia screening tests are subjective with poor sensitivity and…

The use and effectiveness of elbow splints in the Rett syndrome

Incessant hand to mouth movements are often noted as part of the movement disorder of the hands in the Rett syndrome (RS). Elbow splints were designed to inhibit this behavior and prevent further injury to the hands. A study of eight RS patients was…

Tags: 1990, Aron M, Brain and Development, elbow splints, Occupational Therapy, physical intervention, Rett syndrome, stereotypic hand behavior, stereotypy, tone and motor problems

The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome

Background: Although physical features, including loss of hand skills, deceleration of head growth, spasticity and scoliosis, are cardinal features of Rett syndrome (RS), a number of behavioural features are also associated with the disorder,…

THE PATHOPHYSIOLOGY OF THE RETT SYNDROME FROM THE STANDPOINT OF POLYSOMNOGRAPHY

Tags: 1990, Brain and Development, characteristics, Neurosciences & Neurology, Nomura Y, Rett syndrome, Segawa M, sleep disturbance/disorders, sleep-wake cycle, Trajectory

The Increase of Attention in Rett Syndrome: A Pre-Test/Post-Test Research Design

Rett Syndrome (RS) is a neuro-developmental disorder, predominantly affecting females, resulting in severe mental retardation and neuro-behavioral disability. Some RS theoreticians hypothesize that behaviors that are neurologically driven are not…

The Incidence and Evolution of Parkinsonian Rigidity in Rett Syndrome: A Pilot Study

Background: Patients with Rett syndrome (RTT) may demonstrate parkinsonian features. Here, we report a preliminary cross-sectional and prospective evaluation of the evolution, regional distribution, and eventual incidence of rigid tone in a cohort of…

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

The effect of hand splints on stereotypic hand behavior in Rett's syndrome

The purpose of this study was to examine the effect of hand splints and one elbow restraint on persistent stereotypic hand movements of four girls with Rett's syndrome. Among the most characteristic features of Rett's syndrome are stereotypic hand…

Tags: 2002, Bumin G, Duger T, elbow restraint, hand splints, Kayihan H, physical intervention, Rett syndrome, stereotypic behavior, tone and motor problems, Topcu M, Turkish Journal of Pediatrics, Uyanik M

The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study

INTRODUCTION: Rett syndrome (RTT) is a neurological disorder usually associated with a mutation in the MECP2 gene. Conductive Education (CE) is an educational approach that has not yet been explored with regard to children with RTT. OBJECTIVE:…

Tags: 2012, daily training program, Developmental Neurorehabilitation, Downs J, Lotan M, physical intervention, Rett syndrome, Schenker R, tone and motor problems, treadmill, Wine J

Technological aids to support choice strategies by three girls with Rett syndrome

This study was aimed at extending the use of assistive technology (i.e., photocells, interface and personal computer) to support choice strategies by three girls with Rett syndrome and severe to profound developmental disabilities. A second purpose…

Tags: 2015, Albano V, Assistive technology, Damato C, Damiani R, Di Leone A, interface, Perilli V, personal computer, photocells, physical intervention, Research in Developmental Disabilities, Rett syndrome, Stasolla F, Stella A, stereotyped movements, tone and motor problems

TEACHING SELF-FEEDING SKILLS TO PATIENTS WITH RETT-SYNDROME

Few studies have examined the extent to which functional hand-use may be taught to girls with Rett syndrome after those skills have been lost. In this investigation, five females with classic Rett syndrome taught to feed themselves using a method of…

Tags: 1993, Anderson C, Developmental Medicine and Child Neurology, feeding difficulties, Fisher W, girls, Neurosciences & Neurology, Pediatrics, Piazza C C, psychological intervention, Rett syndrome, splints, tone and motor problems

Systematic review of melatonin treatment in children with neurodevelopmental disabilities and sleep impairment

Sleep disturbances in children with neurodevelopmental disabilities are common and frequently difficult to treat with conventional pharmacological and behavioural methods. Melatonin is a pineal hormone known to be important in the regulation of the…

Tags: 2004, Antioxidants/therapeutic use, Appleton R E, Brain/physiopathology, Child, Developmental Disabilities/drug therapy/epidemiology/physiopathology, Developmental Medicine and Child Neurology, Humans, melatonin, Melatonin/therapeutic use, pharmacologic intervention, Phillips L, Rett syndrome, sleep disturbance/disorders, Sleep Wake Disorders/epidemiology, Wakefulness/physiology

Stereotypies in Rett syndrome - Analysis of 83 patients with and without detected MECP2 mutations

Background: Hand stereotypies are considered a hallmark of Rett syndrome (RTT) and are usually described as symmetric movements at the midline. However, related pathologies may show the same type of involuntary movement. Furthermore, patients with…

Stereotypical Hand Movements in 144 Subjects with Rett Syndrome from the Population-Based Australian Database

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. Video data in familiar settings were obtained on subjects (n = 144) identified from an Australian population-based database. I-land…

Sleep problems and their management in Rett syndrome

Rett syndrome (RTT), a rare but severe neurological disorder is associated with a mutation in the methyl CpG binding protein 2 (MECP2) gene on the X chromosome occurring in 1:9000 live female births. Apparently normal development is followed by a…

Tags: 2015, Boban S, characteristics, Rett syndrome, sleep disturbance/disorders, Trajectory

Sleep problems and daytime problem behaviours in children with intellectual disability

BACKGROUND: Sleep problems are common among children with intellectual disability (ID). METHOD: The present study assessed the prevalence of severe sleep problems in a sample of children (n=286) with mild to profound ID who lived at home with their…

Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration

The sleep patterns of a cohort of 83 Rett syndrome females were characterized using a sleep diary for 7 consecutive days and nights and compared with normative sleep data. The mean total sleep time of the cohort was 10.75 h, daytime sleep 0.77 h,…

Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment

Nine girls with Rett syndrome (mean age, 10.1 years) were monitored 24 hours a day over a period of 10 weeks using wrist actigraphy. Baseline sleep-wake patterns were assessed for 1 week. Subsequently, patients underwent a 4-week melatonin treatment…

Tags: 1998, Budden S S, Developmental Medicine and Child Neurology, McArthur A J, melatonin, pharmacologic intervention, Rett syndrome, sleep disturbance/disorders

Serum melatonin kinetics and long-term melatonin treatment for sleep disorders in Rett syndrome

We studied the circadian rhythm of serum melatonin levels in two patients with classical Rett syndrome having severe sleep disorders; serum melatonin levels were measured before and during melatonin treatment using radioimmunoassay. Patient 1 had a…

Tags: 1999, Brain and Development, melatonin, Miyamoto A, Oki J, Okuno A, pharmacologic intervention, Rett syndrome, sleep disturbance/disorders, Takahashi S

Rett's syndrome: Characterization of respiratory patterns and sleep

Rett's syndrome is a progressive disorder that occurs in females and is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures. Patients with Rett's syndrome have been observed to have stereotyped hand…

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

Background: Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion. This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome. Methods: Twenty-six…

Rett syndrome: A preliminary analysis of stereotypy, stress, and negative affect

Rett syndrome (RTT) is a neurodevelopmental disorder primarily affecting females. It is characterized by apparently normative development of motor and communicative abilities followed by deterioration in these domains. Stereotypic hand movements are…

Tags: 2014, behavioral problems, Byiers B J, characteristics, hand stereotypy, negative affect, Payen A, Quest K M, Research in Developmental Disabilities, Rett syndrome, stereotypy, Symons F J, tone and motor problems, Trajectory

Rett syndrome and associated movement disorders

Rett syndrome, a progressive neurodegenerative disorder described only in female subjects, is manifested by a wide spectrum of behavioral and motor abnormalities. We studied 32 patients with this disorder, ages 30 months to 28 years old, and…

Respiratory disturbances in rett syndrome: Don't forget to evaluate upper airway obstruction

Rett syndrome is characterized by loss of motor and social functions, development of stereotypic hand movements, seizures, and breathing disturbances. This study evaluates the presence of overnight respiratory disturbances. Polysomnography in…

Tags: 2012, Bijlmer R P G M, breathing difficulties, characteristics, Hagebeuk E E O, Journal of Child Neurology, Koelman J H T M, Poll-The B T, respiratory muscle strength, Rett syndrome, Trajectory

Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome

Aim: To quantify, in individuals with Rett syndrome with the capacity to walk, walking-based activity and sedentary time, and to analyse the influences of age, walking ability, scoliosis, and the severity of epilepsy. Method: Sixty-four participants…

Psychometric properties of a sleep questionnaire for use in individuals with intellectual disabilities

We examined the psychometric properties of one part of the Sleep Questionnaire developed by Simonds and Parraga (SQ-SP; 1982), a questionnaire that is frequently used to explore sleep problems and behaviors related to sleep in individuals with…

Tags: 2011, Braam W, Collin P, cri-du-chat syndrome, Curfs L M G, Didden R, Jacobsen syndrome, Korzilius H, Maas A, Research in Developmental Disabilities, Rett syndrome, scale development, sleep disturbance/disorders, Smits M G, tool development

Promoting adaptive behaviors by two girls with Rett syndrome through a microswitch-based program

We assessed a microswitch-based program to improve self-determination to access to preferred stimuli and to foster locomotor behavior by two girls with Rett syndrome and multiple disabilities. To enhance the first behavior (access to preferred…

Prolonged-release melatonin for children with neurodevelopmental disorders

Previous studies demonstrated the efficacy and safety of prolonged-release melatonin in children and adolescents with neurodevelopmental and behavioral disorders. The long-term effectiveness and safety of prolonged-release melatonin treatment were…

Tags: 2011, De Leersnyder H, Laudon M, melatonin, Pediatric Neurology, pharmacologic intervention, PR melatonin, prolonged-release melatonin, Rett syndrome, sleep disturbance/disorders, Zisapel N

Polysomnographic recordings of respiratory disturbances in Rett syndrome

Polygraphic recordings in the awake state and during sleep were performed in two girls with Rett syndrome, aged 9 y and 17 y, in order to characterize the clinically manifest breathing disorder of these patients. Primary hyperventilation was…

Polysomnographic findings in Rett syndrome: a case-control study

PURPOSE: Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and usually linked to mutations in the methyl-CpG-binding protein 2 gene, with an estimated prevalence of 1 in 10,000 live female births. Clinical features which…

Observations on hand movements in Rett syndrome: A pilot study

Objectives - It has been assumed that the sterotyped hand movements in Rett syndrome are symmetrical, midline and that they prevent purposeful use of the hands. Their relationship with respiration has not been previously explored. Material and…

Tags: 1996, Acta Neurologica Scandinavica, asymmetrical hand movements, characteristics, disorganised breathing, Elian M, girls, hand movements, Neurosciences & Neurology, Rett syndrome, Rudolf N D, splints, tone and motor problems, Trajectory

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

Rett syndrome (RS) is one of the best human models to study movement disorders. Patients evolve from a hyperkinetic to a hypokinetic state, and a large series of abnormal movements may be observed along their lives Such as stereotypies, tremor,…

Longitudinal Hand Function in Rett Syndrome

Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating in the Australian Rett Syndrome Database. Approximately 40% of subjects with some grasping…

Tags: 2011, Bebbington A, characteristics, Downs J, Journal of Child Neurology, Kaufmann W E, Leonard H, Rett syndrome, tone and motor problems, Trajectory

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

AIM: We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome. METHOD: Video assessment in naturalistic settings was supplemented by parent-reported data in a cross-sectional study of 144 females with…

Interventions for oropharyngeal dysphagia in children with neurological impairment

BACKGROUND: Oropharyngeal dysphagia encompasses problems with the oral preparatory phase of swallowing (chewing and preparing the food), oral phase (moving the food or fluid posteriorly through the oral cavity with the tongue into the back of the…

Tags: 2012, Cerebral Palsy, Dodrill P, Down Syndrome, feeding difficulties, lip strengthening intervention, Morgan A T, myotonic dystrophy, neurological impairment, oral sensorimotor intervention, oropharyngeal dysphagia, physical intervention, Rett syndrome, sensorimotor intervention, Stroke, The Cochrane Database of Systematic Reviews, traumatic brain injury, Ward E C

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