ABSTRACT
Here we report a 12 year old male with an extreme presentation of spastic paraplegia along with autism and dysmorphisms. Whole exome sequencing identified a predicted pathogenic pair of missense variants in SPAST at the same chromosomal location, each with a different alternative allele, while a chromosome microarray identified a 1.73 Mb paternally inherited copy gain of 1q21.1q21.2 resulting in a blended phenotype of both Spastic paraplegia 4 and 1q21.1 microduplication syndrome. We believe that the extreme phenotype observed is likely caused by the presence of cells which contain only mutant SPAST, but that the viability of the patient is possible due mosaicism of mutant alleles observed in different proportions across tissues.
Subject(s)
Autism Spectrum Disorder/genetics , Heart Defects, Congenital/genetics , Intellectual Disability/genetics , Mosaicism , Paraplegia/genetics , Phenotype , Autism Spectrum Disorder/diagnosis , Autistic Disorder/diagnosis , Autistic Disorder/genetics , Child , Chromosome Deletion , Chromosome Duplication , Chromosomes, Human, Pair 1/genetics , Heart Defects, Congenital/diagnosis , Humans , Intellectual Disability/diagnosis , Male , Mutation, Missense , Paraplegia/diagnosis , Paternal Inheritance , Spastin/geneticsABSTRACT
This retrospective study analysed data for 703 children who died from 2000 to 2006 to examine where children with a broad range of progressive, life-limiting illnesses actually die when families are able to access hospital, paediatric hospice facility and care at home. There was an overall even distribution for location of death in which 35.1% of children died at home, 32.1% died in a paediatric hospice facility, 31.9% in hospital and 0.9% at another location. Previous research suggests a preference for home as the location of death, but these studies have primarily focused on adults, children with cancer or settings without paediatric hospice facilities available as an option. Our results suggest that the choice of families for end-of-life care is equally divided amongst all three options. Given the increasing numbers of children's hospices worldwide, these findings are important for clinicians, care managers and researchers who plan, provide and evaluate the care of children with life-limiting illness.
Subject(s)
Attitude to Death , Palliative Care , Patient Satisfaction , Terminal Care , Australia , Canada , Child , Choice Behavior , Humans , Residence Characteristics/statistics & numerical data , Retrospective Studies , United KingdomABSTRACT
OBJECTIVE: Needs assessment is a critical part of the design and implementation of telehealth projects. This study assessed the need for a telehealth link between a local community and a tertiary-care medical center. METHODS: The assessment was conducted using multiple focus groups in a remote community and at a tertiary-care pediatric and women's medical center. Participants were physicians and allied health professionals at both sites and the parents of pediatric patients. Data were analyzed for comment categories and thematic items. RESULTS: The focus groups revealed a number of important positive and negative attitudes regarding telehealth and priorities for implementation. Uncertainty and trust were two themes that emerged from all groups. The resulting design of the telehealth program incorporated these responses. CONCLUSION: Qualitative methods, including focus groups, can yield useful data on complex behavior and explore attitudes toward new and unfamiliar technology.
Subject(s)
Needs Assessment , Telemedicine , British Columbia , Focus Groups , Humans , Program Development , Remote ConsultationSubject(s)
Extracorporeal Membrane Oxygenation , Hemorrhage/therapy , Lung Diseases/therapy , Respiration, Artificial , Respiratory Insufficiency/therapy , Acute Disease , Female , Hemorrhage/complications , Humans , Infant , Lung Diseases/complications , Male , Respiratory Insufficiency/etiology , Severity of Illness IndexABSTRACT
Hemodynamic data obtained in the intensive care unit, immediately after repair of tetralogy of Fallot, were compared with measurements obtained at 1 year postoperative catheterization in 98 infants and children. Eight of 12 patients who had pulmonary artery oxygen saturation of 80% or greater in the intensive care unit had a pulmonary to systemic flow ratio greater than 1.5 at catheterization; all 79 patients who had a pulmonary artery oxygen saturation of ess than 80% in the intensive care unit had a pulmonary to systemic flow ratio of 1.5 or less at catheterization. Five of six patients who had a right ventricular outflow tract pressure gradient greater than 40 mm Hg in the intensive care unit had a gradient greater than 40 mm Hg at catheterization; 7 of 61 patients who had a right ventricular outflow tract gradient of 40 mm Hg or less in the intensive care unit had a gradient greater than 40 mm Hg at catheterization. The addition of measurements of right ventricular pressure and the right ventricular to systemic arterial pressure ratio in the intensive care unit did not improve sensitivity in identifying patients with a right ventricular outflow tract gradient greater than 40 mm Hg at catheterization. Intensive care unit measurement of pulmonary artery oxygen saturation is valuable for determining the presence or absence of a significant left to right shunt after repair of tetralogy of Fallot and should be considered an adjunct to patient management. Intensive care unit measurement of the right ventricular outflow tract gradient identifies patients with a significant right ventricular outflow tract gradient at catheterization but is not highly sensitive.
