Browse Items (98 total)

In children with severe generalized recessive dystrophic epidermolysis bullosa (RDEB), esophageal scarring leads to esophageal strictures with dysphagia, followed by malnutrition and delayed development. We describe a two-step multidisciplinary…

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…

The Sanfilippo Behavior Rating Scale (SBRS), a 68 item questionnaire, has been developed to assess the behavioral phenotype of children with Sanfilippo syndrome and its progression overtime. Fifteen scales rate orality, movement/activity,…

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…

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…

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…

BACKGROUND: Tuberous sclerosis complex is a multisystem genetic disorder with a range of physical manifestations that require evaluation, surveillance, and management. Individuals with tuberous sclerosis complex also have a range of behavioral,…

As part of a wider study to investigate the behavioral phenotype of a national sample of girls and women with Rett syndrome (RTT) in comparison to a well-chosen contrast group and its relationship to parental well-being, the development, clinical…

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…

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…

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 do not know the natural history of dysphagia in classical Rett syndrome (RTT) by stage or age. This study investigated swallowing physiology in 23 females ages 1:7 to 5:8 (years, months) with classical Rett syndrome to determine common and…

BACKGROUND: Models of palliative care need to address the unmet needs of children, young people and families. OBJECTIVE: To undertake an integrative review to identify the key elements of optimal paediatric palliative care from the perspectives of…

BACKGROUND: Children dying of a life threatening disease suffer a great deal at the end of life. Symptom control is often unsatisfactory, partly because many caregivers are simply not familiar with paediatric palliative care. To ensure that a child…

OBJECTIVE: To synthesize the perspectives of a broad range of pediatric palliative care (PPC) clinicians and parents, to formulate a consensus on prioritization of the PPC research agenda. STUDY DESIGN: A 4-round modified Delphi online survey was…

OBJECTIVE: Each year, more than 11,000 adolescents and young adults (AYAs), aged 15-34, die from cancer and other life-threatening conditions. In order to facilitate the transition from curative to end-of-life (EoL) care, it is recommended that EoL…

We intend to present a systematization of scientiic evidence about the emotional labour of nurses in the process of childcare in the end-of-life and their family. It was performed a literature search in the databases CINAHL, Medline, Psychology and…

REVIEW QUESTION/OBJECTIVE: The objective of this review is to identify and synthesize the best international qualitative evidence on healthcare users' experiences of communication with healthcare professionals about children who have life-limiting…

IMPORTANCE: Parents' beliefs about what they need to do to be a good parent when their children are seriously ill influence their medical decisions, and better understanding of these beliefs may improve decision support. OBJECTIVE: To assess parents'…

IMPORTANCE: Hypoxic-ischemic encephalopathy (HIE) occurs in 1 to 8 per 1000 live births in developed countries. Historically, the clinician has had little to offer neonates with HIE other than systemic supportive care. Recently, the neuroprotective…

BACKGROUND: Adolescents and young adults with cancer have inferior survival outcomes compared with younger pediatric patients and older adult patients. Lack of insurance may partly explain this disparity. The objective of this study was to identify…

BACKGROUND: End-of-life care (EOLC) discussions and treatment-related decisions, including phase 1 trial enrollment, in patients with incurable disease are complex and can influence the quality of EOLC received. The current study was conducted in…

BACKGROUND: It can be difficult to explain pediatric phase 1 oncology trials to families of children with refractory cancer. Parents may misunderstand the information presented to them, and physicians may assume that certain topics are covered in the…

BACKGROUND: Little is known about how well family members accurately represent adolescents when making EOL decisions on their behalf. This study reports on surveys given to adolescents with cancer and their parents as part of a larger study…

BACKGROUND: There is a general consensus that involving a specialized palliative care team in the care of children with advanced cancer can help optimize end-of-life communication; however, how this compares to standard oncology care is still…

CONTEXT: Pediatric patients with solid tumors can have a significant symptom burden that impacts quality of life (QoL) and end-of-life care needs. OBJECTIVES: We evaluated outcomes and symptoms in children with solid tumors and compared patterns of…

BACKGROUND: For parents of a critically ill infant, good communication may help alleviate stress and anxiety. To improve communication, physicians must be responsive to families' needs and values surrounding the care of their hospitalized infant.…

BACKGROUND: The loss of a child is associated with an increased risk for developing psychological problems. However, studies investigating the impact of parents' faith and hope for a cure during the palliative phase on long-term parental…

OBJECTIVE: To describe a single-institution pilot study regarding prevalence and risk factors for delirium in critically ill children. DESIGN: A prospective observational study, with secondary analysis of data collected during the validation of a…

OBJECTIVE: Care for children with medical complexity (CMC) relies on pediatricians who often are ill equipped, but striving to provide high quality care. We performed a needs assessment of pediatricians across diverse subspecialties at a tertiary…

Children with life limiting conditions and their families have complex needs. Evaluations must consider their views and perspectives to ensure care is relevant, appropriate and acceptable. We consulted with children, young people, their parents and…

BACKGROUND: The field of pediatric palliative care is hindered by the lack of a well-defined, reliable, and valid method for measuring the quality of end-of-life care. METHODS: The study purpose was to develop and test an instrument to measure…
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