Browse Items · Pediatric Palliative Care Library

Melatonin treatment in individuals with intellectual disability and chronic insomnia: a randomized placebo-controlled study

BACKGROUND: While several small-number or open-label studies suggest that melatonin improves sleep in individuals with intellectual disabilities (ID) with chronic sleep disturbance, a larger randomized control trial is necessary to validate these…

The ocular features of the mucopolysaccharidoses

AIMS: The mucopolysaccharidoses (MPS) are a heterogeneous group of rare disorders characterised by accumulation of glycosaminoglycans within multiple organ systems. This study aimed to determine the prevalence and severity of ocular complications in…

An approach to the diagnosis of metabolic diseases

Inborn metabolic errors, which are not common, may have significant implications for patients. Those patients with such errors who have acute life-threatening symptoms must be treated immediately, and specimens for analysis should be obtained and…

Tags: 2004, Backlog, Barness LA, Child, Fetal And Pediatric Pathology, Humans, Inborn Errors/diagnosis/genetics/metabolism, Infant, Journal Article, Laboratory Techniques and Procedures, Metabolism, Newborn, Q3 Scoping Review Results

Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome)

Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of…

Behaviour in mucopolysaccharide disorders

This paper reports a study of the nature and prevalence of behaviour problems in 258 children with mucopolysaccharide disorders. Questionnaire data obtained through the post was supplemented by home visits to 42 families in the sample and by regular…

Evidence based medicine

2004

Tags: 2004, Adaptation, Backlog, Baxter P, Capital Financing/economics, Cerebral Palsy/therapy, Child, Developmental Medicine and Child Neurology, Epilepsy/drug therapy, Evidence-based Medicine, Gastrostomy/utilization, Health Personnel, Home Care Services/organization & administration, Humans, Journal Article, Melatonin/physiology, Muscular Dystrophies, Psychological, Q3 Scoping Review Results

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency

A retrospective, multicenter study of 180 children with cytochrome c oxidase (COX) deficiency analyzed the clinical features, prognosis, and molecular bases of the COX deficiency. Clinical symptoms including failure to thrive, encephalopathy,…

Melatonin treatment in individuals with intellectual disability and chronic insomnia: a randomized placebo-controlled study

BACKGROUND: While several small-number or open-label studies suggest that melatonin improves sleep in individuals with intellectual disabilities (ID) with chronic sleep disturbance, a larger randomized control trial is necessary to validate these…

Pyruvate dehydrogenase E3 binding protein (protein X) deficiency

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…

An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient

We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated…

Unilateral closed-lip schizencephaly and epilepsy: a comparison with cases of unilateral polymicrogyria

We compared the electroclinical features and evolution of patients with two different types of abnormal cortical organization: unilateral closed-lip schizencephaly (SCHZ) and unilateral polymicrogyria (PMG). Between February 1990 and June 2002, 51…

Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome

A 3 1/2-year-old boy presented at three months of age with an acute episode of lethargy, somnolence, hypoglycemia, hepatomegaly, and cardiomegaly, which responded poorly to restoration of the blood sugar level to normal. The absence of ketonuria…

The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases

We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range:…

Tags: 2008, Adolescent, Adult, Age Factors, Atrophy/complications/pathology, Auditory, Backlog, Bhatia KP, Brain Stem/physiology, Brain/pathology/physiopathology, Cerebellar Ataxia/complications/diagnosis, Cerebellum/pathology/physiopathology, Chew NK, Child, Chromosomes, Cordivari C, Dementia/complications/diagnosis, Diagnosis, Differential, Disease Progression, Dystonia/complications/diagnosis, Edwards MJ, Electroencephalography, Electromyography, Evoked Potentials, Evoked Potentials/physiology, Female, Human, Humans, Journal Article, Kim HT, Magnetic Resonance Imaging, Male, Martino D, Mir P, Movement Disorders: Official Journal Of The Movement Disorder Society, Myoclonus/complications/diagnosis, Neuropsychological Tests, Pair 21/genetics, Q3 Scoping Review Results, Quinn NP, Schneider SA, Seizures/complications/diagnosis, Severity Of Illness Index, Unverricht-Lundborg Syndrome/diagnosis/genetics/physiopathology

High agreement but low kappa: II. Resolving the paradoxes

An omnibus index offers a single summary expression for a fourfold table of binary concordance among two observers. Among the available other omnibus indexes, none offers a satisfactory solution for the paradoxes that occur with p0 and kappa. The…

Tags: 1990, Backlog, Cicchetti DV, Feinstein AR, Journal Article, Journal Of Clinical Epidemiology, Observer Variation, Q3 Scoping Review Results, Sensitivity and Specificity, Statistics as Topic

Adrenoleukodystrophy.

1999

Tags: 1999, Backlog, Coves OFJ, Journal Article, Medicina Intensiva, Q3 Scoping Review Results, Tabernero TC

Mitochondrial encephalomyopathy: variable clinical expression within a single kindred

The clinical manifestations of mitochondrial encephalomyopathy are described in four generations of a single kindred. The age of onset of major neurological disturbance varied from 3-70 years. In some patients, deafness was the only manifestation; in…

Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases

OBJECTIVES: We sought to determine the clinical spectrum, survival, and long-term functional outcome of a cohort of pediatric patients with mitochondrial diseases and to identify prognostic factors. METHODS: Medical charts were reviewed for 73…

Tags: 2007, AIM, Backlog, Cause Of Death, Chevalier I, Child, Cohort Studies, Debray FG, Decarie JC, DNA, DNA Fragmentation, Female, Follow-up Studies, HEREDITARY, Humans, IM, Infant, Journal Article, Lambert M, Leber/di [Diagnosis], Leber/ge [Genetics], Leber/mo [Mortality], Longitudinal Studies, Male, MELAS Syndrome/di [Diagnosis], MELAS Syndrome/mo [Mortality], MELAS Syndrome/th [Therapy], Mitchell GA, Mitochondrial Diseases/di [Diagnosis], Mitochondrial Diseases/ge [Genetics], Mitochondrial Diseases/mo [Mortality], Mitochondrial Encephalomyopathies/di [Diagnosis], Mitochondrial Encephalomyopathies/mo [Mortality], Mitochondrial Encephalomyopathies/th [therapy], Mitochondrial Myopathies/di [Diagnosis], Mitochondrial Myopathies/ge [Genetics], Mitochondrial Myopathies/mo [Mortality], Mitochondrial/ge [Genetics], Newborn, Optic Atrophy, Pediatrics, Preschool, Probability, Proportional Hazards Models, Q3 Scoping Review Results, Retrospective Studies, Robinson BH, Robitaille Y, Severity Of Illness Index, Shoubridge EA, Survival Analysis, Time Factors

Chronic constipation and fecal incontinence in children with neurological and neuromuscular handicap

1997

Tags: 1997, Backlog, Child, Chronic Disease, Constipation/complications/therapy, Di Lorenzo C, Disabled Persons, Fecal Incontinence/complications/therapy, Humans, Journal Article, Journal Of Pediatric Gastroenterology And Nutrition, Nervous System Diseases/complications, Neuromuscular Diseases/complications, Q3 Scoping Review Results

Use of colonic manometry to differentiate causes of intractable constipation in children

We evaluated colon manometry as a means of differentiating causes of intractable constipation in children. We studied pressure changes in the transverse, descending, and rectosigmoid colons of 23 children with intractable constipation. All patients…

Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

A 3-year-old boy had recurrent episodes of lethargy, encephalopathy, and hepatomegaly accompanied by hypoglycemia, elevated liver aminotransferase and creatine kinase values, and nonketotic dicarboxylic aciduria; the serum carnitine level was…

Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up

PURPOSE: To present long-term ocular complications and electroretinographic (ERG) findings in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency - a life-threatening metabolic disease - and the relation to age at diagnosis,…

Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study

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…

Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study

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…

Impairment of the melatonin rhythm in children with Sanfilippo syndrome

Sleep and neuromuscular disease: bilevel positive airway pressure by nasal mask as a treatment for sleep disordered breathing in patients with neuromuscular disease

OBJECTIVE: Investigation of the therapeutic effects of bilevel positive airway pressure delivered by nasal mask in patients with neuromuscular disease. METHODS: 20 patients with neuromuscular disease were evaluated for symptoms of nocturnal sleep…

Lung disease in Niemann-Pick disease

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:…

Course of disability and respiratory function in untreated late-onset Pompe disease

Fifty-two untreated patients with late-onset Pompe disease completed questionnaires about their clinical condition and level of handicap at baseline and at 1-year (n = 41) and 2-year follow-ups (n = 40). During this period, declines in functional…

Disease severity in children and adults with Pompe disease related to age and disease duration

Information about 255 children and adults with Pompe disease was gathered through a questionnaire. Disease severity was associated with disease duration and not with age; an early manifestation of the disease implied earlier wheelchair or ventilator…

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid alpha-glucosidase. Current developments in enzyme replacement therapy require detailed knowledge of…

Review: the quality of dying and death: a systematic review of measures

To determine whether modern medicine is facilitating 'good' deaths, appropriate measures of the quality of dying and death must be developed and utilized. The purpose of this paper is to identify quality of dying and death measurement tools and to…

Tags: 2010, Backlog, Hales S, Journal Article, Palliative Medicine, Q3 Scoping Review Results, Rodin G, Zimmermann C

Central hypothermia as a cause of acute pancreatitis in children with neurodevelopmental impairment

Children with severe neurodevelopmental impairment are at risk for recurrent hypothermia, defined as a temperature of less than 35 degrees C, as a result of hypothalamic dysfunction. Acute pancreatitis following hypothermia from environmental…

Electrogastrography in gastrostomy-tube-fed children

Following gastrostomy tube placement some children develop gagging, retching, vomiting, pain, or irritability during feedings. Conventional medical management is not always successful. It is possible that intolerance of gastrostomy tube feedings…

Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies

We studied 42 individuals, including 8 patients with either complete or partial syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), 8 patients with either complete or partial syndrome of myoclonic…

Clinical validation of the paediatric pain profile

The Paediatric Pain Profile (PPP) is a 20-item behaviour rating scale designed to assess pain in children with severe neurological disability. We assessed the validity and reliability of the scale in 140 children (76 females, mean age 9 years 11…

The natural history of Niemann-Pick disease type C in the UK

Niemann-Pick disease type C (NPC) is an autosomal recessive, neurovisceral lipid storage disorder. Mutations in two genes (NPC1 and NPC2) produce indistinguishable clinical phenotypes by biochemical mechanisms that have not yet been entirely…

The use of clonidine for severe and intractable sleep problems in children with neurodevelopmental disorders--a case series

This paper reports on the use of clonidine for the treatment of severe sleep problems associated with behavioural difficulties in children with neurodevelopmental disabilities. Data were obtained from reviewing the case notes of a series of six…

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