X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifests either in children or more rarely in adults. About…
ObjectiveTo review the experience of the practice of withdrawal of artificial nutrition and hydration (WANH) and to describe parental perspectives on the process.DesignA retrospective chart review and parental survey.SettingTertiary level Neonatal…
Objective: Degenerative ataxias in children present a rare condition where effective treatments are lacking. Intensive coordinative training based on physiotherapeutic exercises improves degenerative ataxia in adults, but such exercises have…
AIMS AND OBJECTIVES: The study aim was to develop a service evaluation tool for an advance care planning model implemented in community palliative care., BACKGROUND: Internationally, advance care planning programmes usually measure success by…
Background: Difficulties in initiating and maintaining sleep are common in children with neurodevelopmental disorders. Melatonin is unlicensed in children yet widely prescribed for sleep problems. Objective: To determine whether or not…
Pompe disease is a lysosomal storage disorder characterized by progressive muscle weakness. With the emergence of new treatment options, psychometrically robust outcome measures are needed to monitor patients' clinical status. We constructed a motor…
BACKGROUND: The purpose of this article is to report on the quality of the existing evidence base regarding the effectiveness of clinical pathway (CPW) research in the hospital setting. The analysis is based on a recently published Cochrane review of…
BACKGROUND: Proximal femur fracture (PFF) is associated with considerable morbidity and mortality. The European Quality of Care Pathway (EQCP) study on PFF (NCT00962910) was designed to determine how care pathways (CP) for hospital treatment of PFF…
Previous findings have suggested that the loss of a family member is associated with mortality among bereaved family members. The least-studied familial relationship in the bereavement literature is that of siblings, although loss of a sibling may…
BACKGROUND: Although care pathways are often said to promote teamwork, high-level evidence that supports this statement is lacking. Furthermore, knowledge on conditions and facilitators for successful pathway implementation is scarce. The objective…
BACKGROUND: Pain is common during cancer treatment, and patient self-reporting of pain is an essential first step for ideal cancer pain management. However, many studies on cancer pain management report that, because pain may be underestimated, it is…
INTRODUCTION: Rett syndrome (RTT) is a neurological disorder usually associated with a mutation in the MECP2 gene. Conductive Education (CE) is an educational approach that has not yet been explored with regard to children with RTT. OBJECTIVE:…
Background The Behavior Problems Inventory-01 (BPI-01) is an informant-based behaviour rating instrument for intellectual disabilities (ID) with 49 items and three sub-scales: Self-injurious Behavior, Stereotyped Behavior and Aggressive/Destructive…
BACKGROUND: The Behavior Problems Inventory-01 (BPI-01) is an informant-based behaviour rating instrument that was designed to assess maladaptive behaviours in individuals with intellectual disabilities (ID). Its items fall into one of three…
We evaluated the independent association between adaptive behavior, communication and repetitive or ritualistic behaviors and self-injury, aggression and destructive behavior to identify potential early risk markers for challenging behaviors. Data…
Abstract Background: Proxy reporting is frequently used to assess symptom distress of patients with advanced chronic organ failure. The aim of the present cross-sectional study was to examine agreement in severity of symptom distress, presence of…
CONTEXT: Very preterm infants are prone to apnea and have an increased risk of death or disability. Caffeine therapy for apnea of prematurity reduces the rates of cerebral palsy and cognitive delay at 18 months of age. OBJECTIVE: To determine whether…
BACKGROUND: Palliative care unit (PCU) beds are a limited resource in Canada, so PCU admission is restricted to patients with a short prognosis. Anecdotally, PCUs further restrict admission of patients with noncancer diagnoses out of fear that they…
The death of a child can have a devastating effect on the family. The pediatrician has an important role to play in supporting the parents and any siblings still in his or her practice after such a death. Pediatricians may be poorly prepared to…
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…
BACKGROUND: Life-limiting conditions (LLCs) describe diseases with no reasonable hope of cure that will ultimately be fatal. For children with these diseases, palliative care services should be available but few data are available to estimate the…
OBJECTIVES: To study the responsiveness (sensitivity to change) of the Motor Function Measure (MFM) in detecting change in neuromuscular disease patients with the intent of using this measure in future clinical trials. DESIGN: Prospective cohort…
Rett syndrome is characterized by loss of motor and social functions, development of stereotypic hand movements, seizures, and breathing disturbances. This study evaluates the presence of overnight respiratory disturbances. Polysomnography in…
BACKGROUND: In questionnaire-based research, human subject protection committees must assess the emotional impact of the study on participants. Without clear data about the risks and benefits of participating in such studies, however, review board…
Rare disorders are scarcely represented in international classifications and therefore invisible in information systems. One of the major needs in health information systems and for research is to share and/or to integrate data coming from…
