Browse Items (72 total)

BACKGROUND: Due to psychological distress and an increased care burden, parents of children diagnosed with cancer may face a higher risk of sickness absence from work. The objective of this study was to examine the association of childhood cancer…

BACKGROUND: Cancer in a child is associated with a significant impact on parental employment. We assessed the proportions of parents of survivors and bereaved parents working and reporting sick leave five years after end of successful treatment…

This paper describes Mexican American family members' descriptions of perceived discrimination by pediatric health care providers (HCPs) and the families' reactions to the HCPs' discriminatory conduct. A retrospective, grounded theory design guided…

OBJECTIVE: To describe the perceptions of caregivers of children with medical complexity (CMC) about their decision to pursue tracheostomy for their children, in particular the satisfaction with their decision. STUDY DESIGN: In this qualitative study…

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…

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…

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…

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…

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…

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…

We report a randomized, double-blind, controlled, crossover trial investigating the response to oral melatonin using two dose regimens in patients with sleep disorders associated with tuberous sclerosis complex. Eight outpatients with tuberous…

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…

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…

Spinal muscular atrophy (SMA) is a common neuromuscular disorder of childhood, associated with a high mortality rate during the first 2 years of life. Most practitioners expect patients with SMA to follow a progressive course with loss of muscle…

To describe clinical and neurodevelopmental phenotypes of Costello syndrome, we performed a retrospective review of the clinical records and findings in 10 children with Costello syndrome. All patients showed significant postnatal growth retardation…

The Hammersmith functional motor scale for children with spinal muscular atrophy was modified to establish a standard measure of functional ability in children with non-ambulant spinal muscular atrophy types 2 and 3 in a longitudinal multi-center…

As previously reported, gastroesophageal reflux (GER) is a frequent and severe medical complication of Cornelia de Lange syndrome (CDLS). The incidence of GER and the correlation between its presence and degree, and the clinical phenotype of CDLS…

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