Browse Items · Pediatric Palliative Care Library

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…

Evolution of Stereotypies in Adolescents and Women with Rett Syndrome

Stereotypies in Rett syndrome (RTT) are a diagnostic hallmark present in all stages of the disease, but descriptions of movement disorders in adults are very scant. Among 30 patients with RTT followed-up at San Paolo Hospital in Milan, we selected…

Tags: 2009, adult age, Canevini M P, characteristics, hand stereotypies, La Briola F, movement disorder, Movement Disorders, movement-disorders, Neurosciences & Neurology, retardation, Rett syndrome, stereotypy, tone and motor problems, Trajectory, Vignoli A

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…

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…

Autism traits in children and adolescents with Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a cohesinopathy causing delayed growth and limb deficits. Individuals with CdLS have mild to profound intellectual disability and autistic features. This study characterizes the behavioral phenotype of children…

Tags: 2014, Aberrant Behavior Checklist, adaptive behavior, Adolescent, Adult, Age, American Journal of Medical Genetics Part A, Article, Autism, behavior disorder, Behavioral phenotype, behavioral problems, characteristics, Checklist, Child, Childhood Autism Rating Scale, Clark B, Clinical Article, Communication, communication disorder, compulsion, Cornelia de Lange syndrome, daily life activity, De Lange syndrome, Diagnosis, Disease Severity, Emotion, Female, Grados M A, Human, hyperactivity, Intellectual Impairment, Interpersonal Communication, Irritability, Kline A D, Landy-Schmitt C, Language, lethargy, limb, maladjustment, Male, Phenotype, Priority Journal, psychological rating scale, Rating Scale, Repetitive behaviors, rigidity, Skill, social cognition, Socialization, Specht M, Srivastava S, stereotypy, Trajectory, Verbal Communication, Vineland Adaptive Behaviors Scales

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…

A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome

The aim of the present study was to determine the prevalence and frequency of stereotypy, self-injurious behaviour (SIB), and aggression in children and adults with Cri du Chat syndrome (CCS), and to investigate the relationship between SIB,…

Direct Observation of the Behaviour of Females with Rett Syndrome

The aim was to observe the behaviour of a sample of females with RTT and explore how it was organized in relation to environmental events. Ten participants, all with a less severe form of classic (n = 9) or atypical (n = 1) Rett syndrome (RTT), were…

Tags: 2016, Behavior, breathing difficulties, characteristics, Cianfaglione R, Clarke A, Felce D, hand stereotypies, Hastings R P, Journal of Developmental and Physical Disabilities, Kerr M, Meek A, Rett syndrome, self-injury, stereotypy, tone and motor problems, Trajectory

A national survey of Rett syndrome: behavioural characteristics

BACKGROUND: The aim was to gain a UK national sample of people with Rett syndrome (RTT) across the age range and compare their characteristics using a variety of relevant behavioural measures with a well-chosen contrast group. METHODS: The achieved…

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

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