Browse Items (32 total)

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…

Purpose There is a paucity of effective long-term medication treatment for secondary dystonias. In situations where significantly impairing secondary dystonias fail to respond to typical enteral medications and intrathecal (or even intraventricular)…

Background: Children with severe psychomotor impairment (SPMI) often experience sleep disturbances that severely distress both the child and his or her parents. Validated questionnaires for the assessment of parents' distress related to their child's…

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,…

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…

Self-injurious behavior (SIB) has been observed in people with tuberous sclerosis complex (TSC), although the frequency of SIB in TSC is largely unknown. SIB is associated with intellectual and developmental disabilities, but there is no single cause…

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…

The electrophysiological features of 3 brothers with the classic form of Pelizaeus-Merzbacher disease (PMD) were studied. Two consecutive overnight polygraphic sleep recordings indicated a gross distortion of rapid-eye-movement (REM) sleep for all…

Mucopolysaccharidoses are lysosomal storage disorders that are caused by a deficiency in the enzymes that degrade glycosaminoglycans. The accumulation of glycosaminoglycans affects multiple systems, resulting in coarse facial features, short stature,…

Background: Sleep disturbance is part of the behavioural phenotype of the rare genetic condition mucopolysaccharidosis (MPS) type III. A growing body of evidence suggests that underlying disturbance in circadian rhythm functioning may explain sleep…

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 aim of this prospective longitudinal multi centric study was to evaluate the correlation between the Hammersmith Functional Motor Scale and the 20 item version of the Motor Function Measure in non ambulant SMA children and adults at baseline and…

AimThis cross-sectional investigation aimed to assess the value of non-invasive measures of temporal respiratory-swallow coupling in individuals with ataxic swallowing. MethodTwenty participants (11 males, 9 females; range 9-21y) with ataxia…

BACKGROUND: Tuberous sclerosis complex is a multisystem disorder that includes a range of tuberous sclerosis associated neuropsychiatric disorders (TAND). The lifetime prevalence rates of TAND are very high; yet surveys suggest that the majority of…

Behavioral problems are common in children with tuberous sclerosis complex (TSC) and can be challenging to manage at home. Standardized measures were used to assess behavior in 99 pediatric patients with TSC and to evaluate parenting stress in their…

Objective. To use a meta-analysis on all reported cases of deep brain stimulation (DBS) for dystonia to determine which factors significantly influence outcome. The Burke-Fahn-Marsden (BFM) movement scale, the most reported measure, was chosen as the…

Background: Rett syndrome (RTT) and autism disorder (AD) are 2 neurodevelopmental disorders of early life that share phenotypic features, one being hand stereotypies. Distinguishing RTT from AD often represents a challenge, and given their distinct…

Purpose: Deep brain stimulation is now widely accepted as an effective treatment for children with primary generalized dystonia. More variable results are reported in secondary dystonias and its efficacy in this heterogeneous group has not been fully…

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…

INTRODUCTION: Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (WIT) but are difficult to characterize and quantify systematically. METHODS: We collected video on 27 girls (2-12 years of age) with classic RTT who…

This study explored the safety and efficacy of synthetic melatonin in the treatment of sleep problems in 20 children with developmental disabilities, in a randomized, double-blind, placebo-controlled 6-week trial of melatonin versus placebo. All but…

Objectives: We sought to document the prevalence and nature of sleep-disordered breathing (SDB) in individuals with Friedreich ataxia (FRDA) as well as establish the relationship, if any, between SDB and clinical parameters of FRDA. Methods:…

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…

Objective: Sleep disturbance and daytime restlessness are present in 50% to 80% of children with severe psychomotor impairment due to neurologic or other complex diseases. Although these issues severely impair the quality of life of the children and…

Background: Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by regression of language and motor skills, cognitive impairment, and frequent seizures. Although the diagnostic criteria focus on communication, motor impairments,…

We obtained information about the behavioral, psychiatric, and functional status of 26 children (13 males, 13 females) with juvenile neuronal ceroid lipofuscinosis (JNCL; mean age 12y 3mo [SD 3y 4mo]; range 6y 9mo to 18y 8mo). Twenty-five children…

Aim: To describe temporal and spatial gait characteristics in individuals with Cri du Chat syndrome (CdCS) and to explore the effects of performing concurrent manual tasks while walking. Methods: The gait parameters of 14 participants with CdCS (mean…

Context. - The regional resource teams of pediatric palliative care, like any adult mobile palliative care team in France, have to realize an annual report including several indicators that are often imposed by the regional public health authorities.…
Output Formats

atom, dcmes-xml, json, omeka-xml, rss2