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: 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…
Objective: Up to 55% of patients with Cornelia de Lange Syndrome (CdLS) experience sleep disturbance. Prior evaluation of children without CdLS with similar intellectual disability and self-injurious behavior suggests that sleep disturbances may be…
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…
OBJECTIVES: To determine whether the recommended nutritional intake of moderately to severely neurologically impaired children is congruent with current growth parameter expectations. METHODS: Observational cross-sectional study at a children's…
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…
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…
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: 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…
This was a prospective descriptive study of hospice physician home visits (HVs) conducted by Hospice and Palliative Medicine Fellows. Our objectives were 1) to improve our knowledge of hospice care at home by describing physician HVs 2) to identify…
Emergency department use contributes to high end-of-life costs and is potentially burdensome for patients and family members. We examined emergency department use in the last months of life for patients age sixty-five or older who died while enrolled…
OBJECTIVE. The purpose of this study was to investigate the immediate and long-term outcomes after fluoroscopically guided balloon dilation of esophageal strictures in a series of patients with dystrophic epidermolysis bullosa (DEB). MATERIALS AND…
Recent studies have shown that rates of depression and anxiety symptoms are elevated among individuals with autism spectrum disorders (ASDs) of various ages and IQs and that depression/anxiety symptoms are associated with higher IQ and fewer ASD…
There is an extensive literature on discrepancies between adult informant ratings of symptom severity on the Child Behavior Checklist and ratings by children and adolescents on the Youth Self Report. This article presents an elaboration of a caveat…
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…
Abstract Objectives: Little data are available on palliative home care for children. The objective of this study was to evaluate the effectiveness of a specialized pediatric palliative home care team (PPHCT) as experienced by parents and health care…
Communication about and planning for the end of life has evolved with medical and technological changes. This article presents a focused literature review of Advance Directives (ADs), Advanced Care Planning (ACP), and communication in palliative and…
Medical researchers looking for evidence pertinent to a specific clinical question must navigate an increasingly voluminous corpus of published literature. This data deluge has motivated the development of machine learning and data mining…
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…
OBJECTIVE:The objective of this study was to assess and compare the usefulness, helpfulness, and stress associated with reviewing a previously adapted advance care planning guide, My Thoughts, My Wishes, My Voice, in comparison with the widely used…
Rubinstein-Taybi syndrome (RTS) is characterized by developmental delay, postnatal growth retardation, typical facial appearance, and broad thumbs and big toes. The behavioral phenotype of children with RTS has been described as friendly and having…
No controlled studies exist regarding the pharmaceutical reduction of ataxia symptoms in ataxia telangiectasia (A-T). In a multicenter, double-blind, randomized, placebo-controlled crossover trial, oral betamethasone (BETA) and placebo were compared…
BACKGROUND: When curative treatments are no longer options for patients dying of cancer, the focus of care often turns from prolonging life to promoting quality of life (QOL). Few data exist on what predicts better QOL at the end of life (EOL) for…
