Browse Items (98 total)

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…

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…

OBJECTIVE: To assess the validity of an electronic version of the Pediatric Index of Mortality 2 score. DESIGN: Retrospective observational study. SETTING: Pediatric and cardiac ICUs at a quaternary medical center. PATIENTS: Patients more than 60…

BACKGROUND: There has been limited empirical research into the environmental causes of self-injury in Cornelia de Lange syndrome. The present study examined the variability of self-injurious behaviour in Cornelia de Lange syndrome across…

OBJECTIVES: To assess the ability of two illness severity scores, Pediatric Logistic Organ Dysfunction Score 2 and Pediatric Index of Mortality 3, in predicting PICU-acquired morbidity. DESIGN: Retrospective chart review conducted from April 2015 to…

Data show that children are less severely affected with SARS-Covid-19 than adults; however, there have been a small proportion of children who have been critically unwell. In this systematic review, we aimed to identify and describe which underlying…

Congenital and acquired forms of osteoporosis in childhood and adolescence can result in morbidity from fracture and pain in childhood, and place an individual at significant risk for problems in adult life. A range of therapies exist for the…

BACKGROUND: Advances in paediatric critical care have resulted in increased survival of critically ill patients, many of whom require long-term ventilation as a means of life support. AIM: To determine current trends in resource utilization, and…

OBJECTIVES: Develop a prediction model to identify persons who have an increased risk of dying within the next 36 months, in order to focus additional resources and assessment in areas related to advanced care planning. DESIGN: Retrospective study…

Pyruvate dehydrogenase (PDH) deficiency is a major cause of neurological dysfunction and lactic acidosis in infancy and early childhood. The great majority of cases (>80%) result from mutations in the X-linked gene for the E1alpha subunit of the…

BACKGROUND: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the…

OBJECTIVES: To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. STUDY DESIGN: A nationwide, retrospective analysis of clinical presentation and…

BACKGROUND: The current study was conducted to assess the safety and tolerability of a transdermal fentanyl delivery system for the relief of chronic pain in a pediatric population, and also to validate titration recommendations and conversion to…

OBJECTIVE: The purpose of this study was to establish relationships between illness severity, length of stay, and functional outcomes in the pediatric intensive care unit (PICU) by using multi-institutional data. We hypothesized that a positive…

The management of pain in children with life-limiting illnesses is complex and unfortunately not often done effectively. Pain is a multidimensional symptom that can overshadow all other experiences of both the child and family. This article focuses…

AIM: To determine the prevalence and associations of self-reported and parent-reported pain in children with cerebral palsy (CP) of all severities., METHOD: Cross-sectional design using a questionnaire; analysis using ordinal regression. Children…

BACKGROUND: Lung involvement in children with Niemann-Pick disease has rarely been studied systematically. OBJECTIVE: To assess the involvement of the lung and the value of bronchoalveolar lavage in children with Niemann-Pick diseases. DESIGN:…

AIM: To assess reliability and predictive validity of the neurological scale of the Standardized Infant NeuroDevelopmental Assessment (SINDA), a recently developed assessment for infants aged 6 weeks to 12 months. METHOD: To assess reliability, three…

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…

Neurologically impaired children have an increased frequency of recurrent pain and irritability that persist in some despite comprehensive evaluation and management of possible pain sources. We hypothesized that visceral hyperalgesia was a source of…

The present paper describes a cross-sectional study of the psychosocial adjustment of 143 children with severe disability and their families identified from a regional case register for children with special needs. Thirty-eight per cent of the…

Compared participation levels in a longitudinal study of parent-child relationships from infancy to 4 years in families of children with cystic fibrosis, congenital heart disease, and with no chronic illness. Demographic (parent's age, education) and…
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