Browse Items · Pediatric Palliative Care Library

Melatonin treatment for sleep disorders in children with neurodevelopmental disorders: an observational study

The study aim was to quantify melatonin-associated improvement in sleep by means of a parent-completed sleep diary during routine outpatient activity. An investigation into sleep disturbance was made at neurology outpatient appointments. Those…

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…

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…

Progressive cerebral vascular degeneration with mitochondrial encephalopathy

MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) is a maternally inherited disorder characterized by recurrent cerebral infarctions that do not conform to discreet vascular territories. Here we report on a patient…

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

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:…

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…

Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation

The characteristic clinical presentation, especially the appearance of muscle symptoms, is quite unique in children carrying the mtA8344G mutation. The diagnosis of MERRF syndrome is seldom made in the pediatric age. Fatigue is a common finding in…

Parental perception of cold extremities and other accompanying symptoms in children with cerebral palsy

Cold extremities have been noted in non-walking children with cerebral damage compared with healthy controls. Whether this is a general problem in children with cerebral palsy (CP) and associated with other symptoms is unknown. This study describes…

Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

To describe the clinical and neurophysiological spectrum and prognosis in a large cohort of biochemically and genetically proven late onset Pompe patients. Thirty-eight diagnosed with late onset Pompe disease at our neuromuscular department during…

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands

Mucopolysaccharidosis IIIC (MPS IIIC, Sanfilippo C syndrome) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT). We performed a clinical study on 29 Dutch MPS IIIC…

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

BACKGROUND: Niemann-Pick type C disease (NPC) is an inherited neurodegenerative disorder characterised by an intracellular lipid-trafficking defect with secondary accumulation of glycosphingolipids. Miglustat, a small iminosugar, reversibly inhibits…

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…

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…

Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study

PURPOSE: To describe the outcome of ophthalmologic examination of 10 Norwegian children with ataxia-telangiectasia (AT) followed through 5 years. METHODS: Ten Norwegian patients with AT aged 2-22 years (three females, seven males) were examined. The…

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,…

Supportive and palliative care needs of families of children with life-threatening illnesses in Western Australia: evidence to guide the development of a palliative care service

OBJECTIVE: To obtain feedback from families of children receiving palliative and supportive care about their care needs in hospital and in community settings. DESIGN: A two-phase combined quantitative and qualitative study. SETTING: Western…

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

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

Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)

OBJECTIVE: Mucopolysaccharidosis types IIIA through IIID (Sanfilippo syndrome) are caused by deficiencies of enzymes involved in the degradation of heparan sulfate. The onset and severity of the disease are highly variable. The purpose of this study…

The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis

OBJECTIVE: To describe the clinical and demographic characteristics of nonneuronopathic Gaucher disease (GD) in children at the time of diagnosis. DESIGN: Longitudinal observational database of the International Collaborative Gaucher Group Gaucher…

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…

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…

Neurologically impaired children and digestive problems

A scale to monitor progression and treatment of mitochondrial disease in children.

Mitochondrial diseases affect all age groups, but those with childhood onset often seem to experience the greatest burden of disability. In some paediatric patients this can be explained by a cumulative disability acquired over many years. In others,…

Links between abnormal brain structure and cognition in holoprosencephaly

Converging information on medical issues, motor ability, and cognitive outcomes is essential when addressing long-term clinical management in children with holoprosencephaly. This study considered whether adding more informative structural indices to…

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…

Coping with Dravet syndrome: parental experiences with a catastrophic epilepsy

The aim of this study was to investigate how parents cope with and care for a child with Dravet syndrome, a severe myoclonic epilepsy with three distinct stages. Twenty-four parents of children with Dravet syndrome participated in a semi-structured…

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…

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…

Impairment of the melatonin rhythm in children with Sanfilippo syndrome

Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey

BACKGROUND: Fabry disease is a rare X-linked disorder caused by deficient activity of the enzyme alpha-galactosidase A. This produces progressive lysosomal accumulation of globotriaosylceramide throughout the body, leading to organ failure and…

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…

Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations

Mutations in the SURF1 gene are the most frequent causes of Leigh disease with cytochrome c oxidase deficiency. We describe four children with novel SURF1 mutations and unusual features: three had prominent renal symptoms and one had ragged red…

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,…

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…

Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency

Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report two previously asymptomatic patients with macrocephaly presenting with progressive…

Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials

OBJECTIVE: To describe the disease course and natural history of Type A Niemann-Pick disease (NPD). METHODS: Ten patients with NPD-A (six male, four female; age range at entry: 3 to 6 months) were serially evaluated including clinical neurologic,…

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…

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

OBJECTIVE: Juvenile GM2 gangliosidosis is a group of inherited neurodegenerative diseases caused by deficiency of lysosomal beta-hexosaminidase resulting in GM2 ganglioside accumulation in brain. The purpose of this study was to delineate the natural…

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