Browse Items · Pediatric Palliative Care Library

A clinical rating scale for Batten disease Reliable and relevant for clinical trials

2005

Tags: 2005, Adams H, Adolescent, Adult, Backlog, Child, Children W/SNI, Clinical Trials/standards, de Blieck EA, DeYoung J, Disease Progression, Dure L, Female, Humans, Journal Article, Levy Erika, Longitudinal Studies, Male, Marshall FJ, McDonough T, Messing S, Mink JW, Neurologic Examination/methods/standards, Neurology, Neuronal Ceroid-Lipofuscinoses/diagnosis/physiopathology/psychology, Neuropsychological Tests/standards, others, Personality Tests/standards, Predictive Value of Tests, Preschool, Prognosis, Rothberg PG, Severity Of Illness Index, Treatment Outcome

A cohort study of children and young people with progressive neuromuscular disorders: clinical and demographic profiles and changing patterns of referral for palliative care

BACKGROUND: Progressive neuromuscular disease in children is life limiting and these children and young people would benefit from palliative care services, but data are limited on the number and demography of these children. AIM: To describe the…

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

OBJECTIVE: To characterize the natural progression of infantile-onset Pompe disease. STUDY DESIGN: Retrospective chart reviews of 168 patients with documented acid alpha-glucosidase deficiency and symptom onset by 12 months of age; Kaplan-Meier…

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,…

Advanced care planning discussions with adolescents and young adults with cancer

Cerebral palsy and neurodegenerative disease

Cerebral palsy refers to a neurologic disorder of motor skills that is static in nature and is the result of injury to the brain before its development is complete. Many neurodegenerative or metabolic disorders have a slow rate of progression and can…

Tags: 1999, Backlog, Bass N, Cerebral Palsy/diagnosis, Child, Current Opinion In Pediatrics, Diagnosis, Differential, Disease Progression, Human, Journal Article, Mitochondrial Myopathies/diagnosis, Neurodegenerative Diseases/diagnosis

Challenging symptoms in children with rare life-limiting conditions: findings from a prospective diary and interview study with families

Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period

Rett syndrome is a rare but severe neurological disorder typically associated with a mutation in the MECP2 gene. We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database.…

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…

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…

Depression, distress and positive mood in late-stage cancer: a longitudinal study

OBJECTIVES: To determine whether new-onset clinical depression emerges over time, and whether positive and negative mood levels change among patients with terminal cancer. METHODS: In this two-site study, 58 cancer patients seen at least twice were…

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…

Disease trajectories and ACT/RCPCH categories in paediatric palliative care

The objective of this study was to provide a preliminary description of trajectories of life-limiting conditions (LLCs) using qualitative experiential data. Semi-structured interviews were conducted with families of children with LLCs, selected to…

Exploring documentation of end-of-life care of children with cancer

This article presents the findings of a study that explored documentation surrounding the end-of-life care of children with cancer. An in-depth history audit of 18 children with cancer, who died from disease progression at a single tertiary…

Tags: 2002, Adolescent, Aranda S, Backlog, Child, Child Psychology, De Graves SD, Disease Progression, Female, Human, Infant, International Journal of Palliative Nursing, Journal Article, Male, Medical Records, Neoplasms/nursing, Palliative Care/psychology, Preschool, Terminal Care/psychology

Follow-up in children with Joubert syndrome

Although Joubert syndrome (JS) was first reported in 1969 by Joubert et al (21), the long-term outcome is not yet documented. We report 19 children (4 pairs of siblings) from a single institution diagnosed with JS. Nine children were last seen…

Impact on parents when a child has a progressive, life-threatening illness.

Children with neurodegenerative, life-threatening illnesses (NLTIs) account for a significant proportion of children requiring palliative care, yet there is a lack of of research that examines families' experiences. This grounded theory study…

Tags: 2006, Backlog, Child, Davies B, Disease Progression, Humans, International Journal of Palliative Nursing, Journal Article, Longitudinal Studies, Palliative Care, Parent-child Relations, Pediatrics, Steele R

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…

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…

Leigh's syndrome

A 15-month-old female child presented with sudden onset cough and hyperventilation along with evidence of metabolic acidosis. She had past history of recurrent vomiting, episodes of abnormal posturing, difficulty in deglutition and regression of…

Life Transitions Of Adolescents And Young Adults With Life-limiting Conditions

Aims:
A systematic review was conducted to appraise and classify evidence related to the life transitions of adolescents and young adults with life-limiting conditions.

Methods:
The databases searched were MEDLINE, CINAHL, PsycINFO, CancerLit, and…

Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients

OBJECTIVES: We sought to determine the long-term clinical and biochemical outcome of newborns with mitochondrial cytopathies (MCs) and to identify possible prognostic factors that may modify the course of these diseases. MATERIAL AND METHODS:…

Massage therapy is associated with enhancement of the immune system's cytotoxic capacity

Twenty-nine gay men (20 HIV+, 9 HIV-) received daily massages for one month. A subset of 11 of the HIV+ subjects served as a within subject control group (one month with and without massages). Major immune findings for the effects of the month of…

Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale

Measuring the severity of neurologic dysfunction in patients with inherited ataxias, including Friedreich ataxia (FA), is difficult because of the variable rate of progression, the variable age at onset and the variety of neural systems that may be…

Missing life stories. The narratives of palliative patients, parents and physicians in paediatric oncology

Illness narratives have become very popular. The stories of children, however, are rarely ever studied. This paper aims to provide insight into how children, parents and physicians make sense of progressive childhood cancer. It also explores how this…

Natural history of nonketotic hyperglycinemia in 65 patients

BACKGROUND: Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an autosomal recessive disorder caused by a defect in the glycine cleavage system. NKH is classically associated with neonatal apnea, lethargy, hypotonia, and…

Tags: 2004, Adolescent, Age of Onset, AIM, Anticonvulsants/tu [Therapeutic Use], Apnea/et [Etiology], Apnea/th [Therapy], Applegarth D, Artificial, Backlog, Child, Corpus Callosum/ab [Abnormalities], Disease Progression, Female, Glycine/bl [Blood], Glycine/cf [Cerebrospinal Fluid], Hamosh A, Health Surveys, Hoover-Fong JE, Humans, Hydrocephalus/ep [Epidemiology], Hydrocephalus/et [Etiology], Hyperglycinemia, IM, Infant, Journal Article, Juvenile/dt [Drug Therapy], Juvenile/ep [Epidemiology], Juvenile/et [Etiology], Male, Myoclonic Epilepsy, Neurology, Newborn, Nonketotic/co [Complications], Nonketotic/ep [Epidemiology], Nonketotic/me [Metabolism], Nonketotic/mo [Mortality], Nystagmus, Pathologic/ep [Epidemiology], Pathologic/et [Etiology], Pregnancy, Pregnancy Complications/ep [Epidemiology], Preschool, Psychomotor Disorders/ep [Epidemiology], Psychomotor Disorders/et [Etiology], Questionnaires, Registries, Respiration, Retrospective Studies, Seizures/dt [Drug Therapy], Seizures/ep [Epidemiology], Seizures/et [Etiology], Sex Factors, Shah S, Survival Analysis, Toone J, Van Hove JL

Niemann-Pick disease type C: From bench to bedside.

Niemann-Pick disease type C: Two cases and an update.

We describe two patients with juvenile-onset Niemann-Pick disease type C (NPC) to illustrate the variable neurologic features of this condition. One presented with hypersplenism at age 10 and was misdiagnosed with Gaucher disease. He developed…

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,…

Prevalence and progression of mitochondrial diseases: a study of 50 patients

We report 50 patients with various clinical phenotypes of mitochondrial disease studied over the past 10 years in a large urban area (Madrid Health Area 5). The clinical phenotypes showed a large variety of abnormalities in molecular biology and…

Tags: 2003, Adolescent, Adult, Age of Onset, Aged, Arenas J, Arpa J, Arpa-Fernandez A, Backlog, Campos Y, Chronic Progressive External/ep [Epidemiology], Chronic Progressive External/ge [Genetics], Chronic Progressive External/pa [Pathology], Cruz-Martinez A, Del Hoyo P, Disease Progression, DNA, Electromyography, Epilepsies, Female, Garcia-Rio F, Gutierrez-Molina M, Humans, IM, Journal Article, Lactic Acid/bl [Blood], Male, Martin MA, MELAS Syndrome/ep [Epidemiology], MELAS Syndrome/ge [Genetics], MELAS Syndrome/pa [Pathology], Middle Aged, Mitochondrial Diseases/ep [Epidemiology], Mitochondrial Diseases/ge [Genetics], Mitochondrial Diseases/pa [Pathology], Mitochondrial/ge [Genetics], Muscle, Muscle & Nerve, Myoclonic/ep [Epidemiology], Myoclonic/ge [Genetics], Myoclonic/pa [Pathology], Neural Conduction/ph [Physiology], Ophthalmoplegia, Perez-Conde C, Phenotype, Rubio JC, Skeletal/pa [Pathology], Spain/ep [Epidemiology], Survival Analysis

Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)

OBJECTIVE: To use the Unified Batten Disease Rating Scale (UBDRS) to measure the rate of decline in physical and functional capability domains in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) or Batten disease, a neurodegenerative…

Quantitative estimation of rare adverse events which follow a biological progression: a new model applied to chronic NSAID use

Randomised controlled trials (RCTs) alone are unlikely to provide reliable estimates of the incidence of rare events because of their limited size. Cohort, case control, and other observational studies have large numbers but are vulnerable to various…

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…

Sleep disordered breathing in spinal muscular atrophy

Sleep disordered breathing is a common but under-diagnosed complication causing sleep disturbance and daytime symptoms in children with spinal muscular atrophy. Non-invasive (positive pressure) ventilation is an established treatment of respiratory…

Tags: 2004, breathing difficulties, Child, Cyclic AMP, Disease Progression, disordered breathing, Dohna-Schwake C, Female, Humans, Male, Mellies U, Muscle, Neuromuscular Disorders, non-invasive positive pressure ventilation, physical intervention, Response Element-Binding Protein, Skeletal/pa [Pathology] Muscle, SMA1, Stehling F V T

Symptoms in children/young people with progressive malignant disease: United Kingdom Children's Cancer Study Group/Paediatric Oncology Nurses Forum survey.

AIM: The purpose of this study was to survey symptoms in children/young people with progressive cancer and identify which are the most important and which are the most difficult to treat effectively. PATIENTS AND METHODS: This was a questionnaire…

The biochemical basis of metabolism in cancer cachexia

Cancer cachexia is a syndrome of progressive body wasting characterized by loss of adipose tissue and skeletal muscle mass. It is the most common side effect of malignancy occurring in approximately one-half of untreated cancer patients. The…

The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil

The clinical course of Japanese patients with childhood and adolescent adrenoleukodystrophy (ALD) who were treated with Lorenzo's oil after the progression of early symptoms was investigated by Kaplan-Meier analyses. Many of the early symptoms,…

Tags: 2001, Adolescent, Adrenoleukodystrophy/drug therapy/pathology/physiopathology, Backlog, Brain & Development, Child, Disease Progression, Erucic Acids/therapeutic use, Humans, Imamura A, Japan, Journal Article, Kondo N, Male, Q3 Scoping Review Results, Shimozawa N, Suzuki Y, Treatment Outcome

The course of the terminal phase in patients with amyotrophic lateral sclerosis

The fear of "choking to death" is on the mind of most patients suffering from amyotrophic lateral sclerosis (ALS). So far, however, there have been no systematic surveys concerning the dying phase in a general ALS population. We therefore performed a…

The impact of clinical trial enrollment on specialty palliative care utilization in pediatric patients with high-grade gliomas

BACKGROUND: Palliative care (PC) provides numerous benefits for children with cancer. Pediatric patients with high-grade glioma (HGG) are particularly well suited for early PC involvement given their high symptom burden and poor prognosis. However,…

Tags: 2023, 2023 SE3 - Oncology, Child, Clinical Trial, Clinical Trials as Topic, Disease Progression, Franson AT, Glioma, Glioma/therapy/pathology, high-grade glioma, Humans, Palliative Care, Pediatric Blood and Cancer, Pediatric Brain Tumor, Roberts HJ, Spruit JL, Taylor L, Wang Y

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

OBJECTIVE: Infantile Pompe's disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of…

The natural history of degenerative ataxia: a retrospective study in 466 patients

The aim of the present study was (i) to compare disease progression and survival in different types of degenerative ataxia, and (ii) to identify variables that may modify the rate of disease progression. We included patients suffering from…

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