Browse Items (291 total)

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…

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…

Archival data from a survey of parent observations was used to determine the prevalence of social and behavioral problems in children with agenesis of the corpus callosum (ACC). Parent observations were surveyed using the Child Behavior Checklist…

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…

Objective: Our objective was to characterize sleep-disordered breathing in 88 children with achondroplasia aged 1 month to 12.6 years. Results: At the time of their initial polysomnography, five children had previously undergone tracheostomy, and…

Characteristics of sleep and sleep problems were investigated in 43 individuals with 11q terminal deletion disorder (Jacobsen syndrome). Data were collected using a sleep questionnaire. Ten individuals (23%) had a sleep problem. Settling problems,…

Sanfilippo syndrome is a rare degenerative disorder which has severe intellectual and behavioural sequelae, commonly including sleep problems. A parental questionnaire was used to gather information on the sleep patterns of 80 children with…

Background: Very little is known about sleep habits in children with agenesis of the corpus callosum (ACC). The purpose of this investigation was to evaluate sleep problems in children with ACC and examine the association with quality of…

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…

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,…

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…

AIMS: To determine the incidence, manifestations, and best management of sleep disturbance in Sanfilippo syndrome (mucopolysaccharidosis (MPS) type III). METHODS: Families were ascertained through the MPS societies of Australasia, the UK, and the…

Sanfilippo syndrome (mucopolysaccharidosis type III) is the commonest mucoploysaccharidosis. It causes neurodegeneration with often profound sleep and behavioral disturbance. Management of the sleep disturbance is difficult and inconsistent. In this…

Overnight polysomnography was performed in 10 subjects with tuberous sclerosis (TS) and partial epilepsy in order to investigate the relationships between sleep organization, sleep disorders and epilepsy. Sleep architecture abnormalities were…

Sleep disordered breathing is a common but under-diagnosed complication causing sleep disturbance and daytime symptoms in children with spinal muscular atrophy. Non-invasive (positive pressure) ventilation is an established treatment of respiratory…

Sleep disorders were investigated in 40 children with tuberous sclerosis (TS) and compared with those found in non-disabled children and those reported in a mixed group with learning disabilities. Significantly higher levels of sleep disturbance were…

To examine the nature of sleep disturbance in patients with a variant form of late infantile neuronal ceroid lipofuscinosis (CLNS), we studied 12 patients (age range 7-32 years). We used a sleep questionnaire to assess sleep and its disturbances…

In juvenile neuronal ceroid-lipofuscinosis (JNCL), sleep disorders are common. The purpose of this study was to investigate the sleep structure of 28 patients with JNCL compared with healthy controls subjects and to clarify the pathophysiology…

Little emphasis has been accorded to peripheral skin temperature impairments in children with neurological disorders but attention has been paid to the significance of cold extremities (autonomic failure) for well-being and quality of life in adults…

We surveyed 64 individuals with the diagnosis of Brachmann-de Lange syndrome (BDLS) to determine the natural course and cause of the disorder. The 64 individuals were ascertained through membership in a national organization, the Cornelia de Lange…

Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for…

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…

In a series of patients with the Lesch-Nyhan syndrome a pharmacologic attempt was made to alter the balance of biogenic amines in the central nervous system by increasing the level of serotin. Patients were treated with 5-hydroxytryptophan in…

UNLABELLED: Parents of 40 patients with Lesch-Nyhan disease completed a questionnaire detailing developmental history, life course, management, medication, factors influencing variability and topography of self-injury. Several conclusions were…

The early development of self-injurious behaviour in three young boys (aged 17, 25, and 30 months at start of study) with Lesch-Nyhan syndrome was examined by means of parental interviews and by direct observations completed at 3 to 4 monthly…

Researchers have argued that individuals who show self-restraint are more likely to show self-injurious behavior (SIB) that is compulsive. Self-injurious behavior, self-restraint, and compulsive behaviors have been described as features of Cornelia…

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…

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