Browse
Submit Data
Databases
API
Help

Dataset Information

10 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Psychological health in adults with morquio syndrome.

ABSTRACT: Mucopolysaccharidosis type IV (MPSIV), also known as Morquio syndrome, is a progressive genetic condition which predominantly affects skeletal development. Research thus far has focused on physical manifestations, with little attention to psychological characteristics. As a first step in determining the natural occurrence of psychological symptoms in this population, we administered Achenbach measures of psychological functioning (ASEBA ASR and OASR), quality of life (SF-36), and pain severity (BPI) questionnaires to 20 adults with Morquio syndrome. 11/20 subjects (55%) scored within the symptomatic range on at least one or more ASEBA problem scales. These subjects also had higher pain severity scores (p?=?0.051) and pain interference scores (p?=?0.03) on the BPI. However, subjects with psychological symptoms did not differ significantly on QOL measures from those without psychological symptoms. Overall, subjects scored below the US mean only in physical health QOL (p?

SUBMITTER: Ali N

PROVIDER: S-EPMC4375129 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Psychological health in adults with morquio syndrome.

Ali Nadia N Cagle S S

JIMD reports 20150123

Mucopolysaccharidosis type IV (MPSIV), also known as Morquio syndrome, is a progressive genetic condition which predominantly affects skeletal development. Research thus far has focused on physical manifestations, with little attention to psychological characteristics. As a first step in determining the natural occurrence of psychological symptoms in this population, we administered Achenbach measures of psychological functioning (ASEBA ASR and OASR), quality of life (SF-36), and pain severity ( ...[more]

PMID: 25614312

Similar Datasets

Mortality in patients with morquio syndrome a.

Project description:BACKGROUND:Morquio syndrome A (mucopolysaccharidosis type IVA) is an autosomal recessive, life-limiting lysosomal storage disease characterized by deficient activity of the enzyme galactosamine-6-sulfatase. The disease affects multiple body systems, and patients require multidisciplinary care from an early age. METHODS:To better understand the natural progression of the disease, life expectancy and common causes of death, death certificates were evaluated for 27 patients (15 male, 12 female) with Morquio syndrome A in the UK, covering the years 1975-2010. RESULTS:Mean age at death (±standard deviation) was 25.30?±?17.43 years, with female patients living longer than male patients (26.55?±?12.28 years versus 22.95?±?17.63 years, respectively). Respiratory failure was the primary cause of death in nearly two-thirds of patients (63%). Other causes of death were cardiac failure (11%), post-traumatic organ failure (11%), complications of surgery (11%) and myocardial infarction (4%). Life expectancy increased gradually over time (R (2)?=?0.0963), and mean age at death due to respiratory failure improved from 17.42?±?9.54 years in the 1980s to 30.74?±?10.84 years in the 2000s. CONCLUSIONS:The current data suggest that survival of patients with Morquio syndrome A in the UK has improved in recent decades. It is possible that improvements in multidisciplinary care and referral of patients to specialist centres underlie this trend. It is hoped that novel disease-specific treatments such as enzyme replacement therapy and haematopoietic stem cell therapy will help to extend the lifespan of patients with Morquio syndrome further still.

| S-EPMC4270860 | biostudies-literature

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

Project description:Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological deterioration and loss of function. This review details the spinal manifestations of MPS IVA and describes the tools used to diagnose and monitor spinal involvement. The relative utility of radiography, computed tomography (CT) and magnetic resonance imaging (MRI) for the evaluation of cervical spine instability, stenosis, and cord compression is discussed. Surgical interventions, anaesthetic considerations, and the use of neurophysiological monitoring during procedures performed under general anaesthesia are reviewed. Recommendations for regular radiological imaging and neurologic assessments are presented, and the need for a more standardized approach for evaluating and managing spinal involvement in MPS IVA is addressed.

| S-EPMC3590412 | biostudies-literature

Activity of daily living for Morquio A syndrome.

Project description:The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three domains: "Movement," "Movement with cognition," and "Cognition." Each domain has four subcategories rated on a 5-point scale based on the level of assistance. The questionnaire was collected from 145 healthy controls and 82 patients with MPS IVA. The patient cohort consisted of 63 severe and 17 attenuated phenotypes (2 were undefined); 4 patients treated with hematopoietic stem cell transplantation (HSCT), 33 patients treated with enzyme replacement therapy (ERT) for more than a year, and 45 untreated patients. MPS IVA patients show a decline in ADL scores after 10years of age. Patients with a severe phenotype have a lower ADL score than healthy control subjects, and lower scores than patients with an attenuated phenotype in domains of "Movement" and "Movement with cognition." Patients, who underwent HSCT and were followed up for over 10years, had higher ADL scores and fewer surgical interventions than untreated patients. ADL scores for ERT patients (2.5years follow-up on average) were similar with the-age-matched controls below 10years of age, but declined in older patients. Surgical frequency was higher for severe phenotypic patients than attenuated ones. Surgical frequency for patients treated with ERT was not decreased compared to untreated patients. In conclusion, we have shown the utility of the proposed ADL questionnaire and frequency of surgical interventions in patients with MPS IVA to evaluate the clinical severity and therapeutic efficacy compared with age-matched controls.

| S-EPMC5016714 | biostudies-literature

Hematopoietic stem cell transplantation for Morquio A syndrome.

Project description:Morquio A syndrome features systemic skeletal dysplasia. To date, there has been no curative therapy for this skeletal dysplasia. No systemic report on a long-term effect of hematopoietic stem cell transplantation (HSCT) for Morquio A has been described. We conducted HSCT for 4 cases with Morquio A (age at HSCT: 4-15years, mean 10.5years) and followed them at least 10years (range 11-28years; mean 19years). Current age ranged between 25 and 36years of age (mean 29.5years). All cases had a successful full engraftment of allogeneic bone marrow transplantation without serious GVHD. Transplanted bone marrow derived from HLA-identical siblings (three cases) or HLA-identical unrelated donor. The levels of the enzyme activity in the recipient's lymphocytes reached the levels of donors' enzyme activities within two years after HSCT. For the successive over 10years post-BMT, GALNS activity in lymphocytes was maintained at the same level as the donors. Except one case who had osteotomy in both legs one year later post BMT, other three cases had no orthopedic surgical intervention. All cases remained ambulatory, and three of them could walk over 400m. Activity of daily living (ADL) in patients with HSCT was better than untreated patients. The patient who underwent HSCT at four years of age showed the best ADL score. In conclusion, the long-term study of HSCT has demonstrated therapeutic effect in amelioration of progression of the disease in respiratory function, ADL, and biochemical findings, suggesting that HSCT is a therapeutic option for patients with Morquio A.

| S-EPMC5016080 | biostudies-literature

Simultaneous bilateral total hip arthroplasty in Morquio syndrome.

Project description:A 16-year-old girl who had Morquio syndrome presented with severe bilateral hip pain and limited mobility because of bilateral hip osteoarthritis and fixed flexion deformities. She was wheelchair bound for the previous 6 months. Cervical spine flexion-extension views showed mild subluxation (<3 mm), and there was thoracolumbar spine kyphosis. Magnetic resonance imaging of the cervical and thoracolumbar spine showed hypoplasia of the odontoid and vertebral bodies, but no spinal cord compression. Bilateral cemented total hip arthroplasty was performed through a posterior approach under general anesthesia with fiberoptic intubation. The femoral canals accepted a small-diameter stem, the right femoral head was used as a graft for superior right acetabular deficiency, and low-profile all-polyethylene acetabular cups were implanted. Follow-up at 15 years after surgery showed that the patient was fully ambulatory without pain or supports, and radiographs showed no loosening. In summary, total hip arthroplasty at a young age may be necessary in patients who have Morquio syndrome because of severe arthritis and soft tissue contractures. Extensive preoperative evaluation that includes imaging of the entire spine is mandatory because of the risk of developing spinal cord compression.

| S-EPMC5585770 | biostudies-literature

Enzyme replacement therapy for mucopolysaccharidosis type IV (Morquio syndrome)

Project description:Abstract This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: To assess the effectiveness, safety and appropriate dose regimen of ERT in people with MPS IV A. To determine whether evidence from NRSIs (which potentially offers longer follow‐ups) can contribute to the ERT efficacy evidence‐base, and to determine the potential need for additional RCT evidence. To consolidate recommendations for the design of future clinical trials.

| S-EPMC6494408 | biostudies-literature

Current and emerging management options for patients with Morquio A syndrome.

Project description:Morquio A syndrome is a lysosomal storage disease associated with mucopolysaccharidosis. It is caused by a deficiency of the lysosomal enzyme, N-acetylgalactosamine-6-sulfate sulfatase, which leads to accumulation of keratan sulfate and condroitin-6 sulfate in multiple organs. Patients present with multisystemic complications involving the musculoskeletal, respiratory, cardiovascular, and digestive systems. Presently, there is no definitive cure, and current management options are palliative. Enzyme replacement therapy and hematopoietic stem cell therapy have been proven effective in certain lysosomal storage diseases, and current investigations are underway to evaluate the effectiveness of these therapies and others for the treatment of Morquio A syndrome. This review discusses the current and emerging treatment options for Morquio A syndrome, citing examples of the treatment of other mucopolysaccharidoses.

| S-EPMC3572824 | biostudies-other

Psychological Well-being's Link with Cardiovascular Health in Older Adults.

Project description:Favorable cardiovascular health (FCH) is associated with healthy longevity and reduced cardiovascular mortality risk. However, limited work has investigated the distribution of FCH in older age or considered the antecedents of FCH. Based on prior work linking psychological well-being with cardiovascular endpoints, higher psychological well-being was hypothesized to be associated with increased likelihood of maintaining FCH over time.Data were from the English Longitudinal Study of Ageing. The first study wave (2002-2003) included men and women aged ?50 years. The analytic sample (N=4,925) was restricted to individuals without baseline cardiovascular disease and with clinical data from three follow-ups through 2013. Psychological well-being was assessed with 17 items from the Control, Autonomy, Satisfaction, and Pleasure scale. FCH was defined as being a non-smoker, diabetes-free, and having healthy levels of blood pressure, cholesterol, and BMI (FCH scores ranged from 0-5). Statistical analyses conducted in 2016-2017 used linear mixed models to examine associations between psychological well-being and FCH scores over time. Secondary analyses examined cardiovascular-related mortality.Only 1% of participants had achieved complete FCH at study baseline. Adjusting for sociodemographic factors and depression, greater psychological well-being was associated with higher FCH scores across time (?=0.05, 95% CI=0.02, 0.08), but not rate of change in FCH. Psychological well-being was also associated with a 29% reduced risk of cardiovascular-related mortality in multivariable-adjusted models.Findings suggest that psychological well-being is associated with having FCH at older ages, and add to knowledge of assets that may increase likelihood of healthy aging.

| S-EPMC5833990 | biostudies-literature

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe.

Project description:Mucopolysaccharidosis type IVA, also known as Morquio (Morquio-Brailsford) syndrome results from accumulation of keratan sulfate (KS) and chondroitin-6-sulfate (C6S), whereas the primary cause is mutations in the gene encoding galactosamine (N-acetyl)-6-sulfatase (GALNS). Phenotypically it seems to be a well-defined condition, with two main clinical forms: mild (attenuated) and severe, which are determined based on a combination of symptoms, i.e., enzymatic activity of GALNS, age of onset, and symptom severity. Nevertheless, the natural history of MPSIVA in relation to specific anthropometric parameters (growth, head circumference, body proportions, and face phenotype) is not precisely characterized. The aim of our work was to analyze the aforementioned anthropometric parameters, including correlation to molecular data (causative GALNS mutations).

| S-EPMC6483970 | biostudies-literature

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa.

Project description:BACKGROUND:This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ?18 years of age evaluated in an open-label, long-term extension study of elosulfase alfa (modified per protocol [MPP], n?=?32; intent-to-treat [ITT], n?=?37; MOR-005; NCT01415427) were compared with the ?18-year-old untreated population with 2-years follow-up from a Morquio A natural history study (n?=?10; MorCAP; NCT00787995). The MOR-005 MPP population excluded patients who underwent orthopedic surgical procedures or were noncompliant with study protocol (defined as missing ?20% of ERT infusions). No MorCAP patients underwent orthopedic surgical procedures during the relevant time period. Endurance was assessed by the 6-min walk test (6MWT) and 3-min stair climb test (3MSCT). Activities of daily living (ADLs) were assessed by the MPS Health Assessment Questionnaire (MPS HAQ). RESULTS:Least squares (LS) mean (SE) 6MWT distances increased by 34.9 (11.7) m (MPP) and 30.5 (10.8) m (ITT) by week 120; LS mean (SE) change in 3MSCT at week 120 was 6.7 (1.8) stairs/min (MPP) and 5.9 (1.7) stairs/min (ITT). MorCAP patients showed no improvement in 6MWT distance or 3MSCT over a similar period of time. Pulmonary function measures remained unchanged in both MOR-005 and MorCAP adults. All MPS HAQ domain scores improved in MOR-005 adults, whereas MorCAP adults had unchanged caregiver assistance and mobility outcomes and worsened self-care outcomes. CONCLUSIONS:Long-term ERT in adult patients with Morquio A was associated with increased endurance and improvement in performance of ADLs. TRIAL REGISTRATION:Trial Registration NCT01415427 . Name of registry: Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome). Registered 8 August 2011, retrospectively registered.

| S-EPMC5442692 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data