scholarly journals Preliminary development of proxy-rated quality-of-life scales for children and adults with Niemann-Pick type C

2019 ◽  
Vol 28 (11) ◽  
pp. 3083-3092 ◽  
Author(s):  
Lydia Aston ◽  
Rachel Shaw ◽  
Rebecca Knibb
Keyword(s):  
Quality Of Life ◽  
Type C ◽  
Niemann Pick

scholarly journals Efficacy and safety of N-acetyl-l-leucine in Niemann–Pick disease type C

2021 ◽  
Author(s):  
Tatiana Bremova-Ertl ◽  
Jens Claassen ◽  
Tomas Foltan ◽  
Jordi Gascon-Bayarri ◽  
Paul Gissen ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Washout Period ◽  
Rating Scales ◽  
Disease Type ◽  
Clinical Impression ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Abstract Objective To investigate the safety and efficacy of N-acetyl-l-leucine (NALL) on symptoms, functioning, and quality of life in pediatric (≥ 6 years) and adult Niemann–Pick disease type C (NPC) patients. Methods In this multi-national, open-label, rater-blinded Phase II study, patients were assessed during a baseline period, a 6-week treatment period (orally administered NALL 4 g/day in patients ≥ 13 years, weight-tiered doses for patients 6–12 years), and a 6-week post-treatment washout period. The primary Clinical Impression of Change in Severity (CI-CS) endpoint (based on a 7-point Likert scale) was assessed by blinded, centralized raters who compared randomized video pairs of each patient performing a pre-defined primary anchor test (8-Meter Walk Test or 9-Hole Peg Test) during each study periods. Secondary outcomes included cerebellar functional rating scales, clinical global impression, and quality of life assessments. Results 33 subjects aged 7–64 years with a confirmed diagnosis of NPC were enrolled. 32 patients were included in the primary modified intention-to-treat analysis. NALL met the CI-CS primary endpoint (mean difference 0.86, SD = 2.52, 90% CI 0.25, 1.75, p = 0.029), as well as secondary endpoints. No treatment-related serious adverse events occurred. Conclusions NALL demonstrated a statistically significant and clinical meaningfully improvement in symptoms, functioning, and quality of life in 6 weeks, the clinical effect of which was lost after the 6-week washout period. NALL was safe and well-tolerated, informing a favorable benefit-risk profile for the treatment of NPC. Clinicaltrials.gov identifier NCT03759639.

Sequential correction technique in degenerative scoliosis with type C coronal imbalance: a comparison with traditional 2-rod technique

2021 ◽  
pp. 1-7
Keyword(s):  
Quality Of Life ◽  
Cobb Angle ◽  
Type A ◽  
Degenerative Scoliosis ◽  
Coronal Balance ◽  
Coronal Imbalance ◽  
Correction Technique ◽  
Type C

OBJECTIVE The aim of this study was to compare the radiographic and clinical outcomes in patients with degenerative scoliosis (DS) with type C coronal imbalance who underwent either a sequential correction technique or a traditional 2-rod technique with a minimum of 2 years of follow-up. METHODS DS patients with type C coronal imbalance undergoing posterior correction surgery from February 2014 to January 2018 were divided into groups by technique: the sequential correction technique (SC group) and the traditional 2-rod technique (TT group). Radiographic parameters, including Cobb angle, coronal balance distance (CBD), global kyphosis (GK), thoracic kyphosis (TK), lumbar lordosis (LL), sagittal vertical axis (SVA), pelvic incidence (PI), pelvic tilt (PT), and sacral slope, were assessed pre- and postoperatively. The SF-36 questionnaire was used to assess quality of life. RESULTS A total of 34 patients were included. Significant postoperative improvement in the Cobb angle of the main curve, CBD, GK, TK, LL, SVA, and PT was found in both groups (p < 0.05). Postoperatively, the coronal balance was type A in 13 patients (92.9%) in the SC group and in 16 patients (80.0%) in the TT group (p = 0.298). In the TT group, 1 patient had deteriorative coronal imbalance immediately postoperatively, and coronal imbalance deteriorated from type A to type C in 2 patients during follow-up. The scores of Physical Functioning, Role-Physical, Bodily Pain, Vitality, Social Functioning, Role-Emotional, and Mental Health were statistically improved postoperatively (p < 0.05) in both groups. Type C coronal imbalance at the last follow-up was associated with a relatively worse quality of life. There were no implant failures during follow-up in the SC group, whereas rod fracture was observed in 3 patients in the TT group. CONCLUSIONS Compared with the traditional 2-rod technique, the sequential correction technique can simplify rod installation procedure, enhance internal instrumentation, and reduce risk of implant failures. The sequential correction technique could be routinely recommended for DS patients with type C coronal imbalance.

scholarly journals Neurodegeneration in Niemann–Pick Type C Disease: An Updated Review on Pharmacological and Non-Pharmacological Approaches to Counteract Brain and Cognitive Impairment

2021 ◽  
Vol 22 (12) ◽  
pp. 6600
Author(s):  
Ida Cariati ◽  
Laura Masuelli ◽  
Roberto Bei ◽  
Virginia Tancredi ◽  
Claudio Frank ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Physical Exercise ◽  
Cortical Neurons ◽  
Current Knowledge ◽  
Neurofibrillary Tangle ◽  
Lysosomal System ◽  
Type C ◽  
Niemann Pick ◽  
Molecular And Biochemical Mechanisms

Niemann–Pick type C (NPC) disease is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol in the late endo-lysosomal system of cells. Progressive neurological deterioration and the onset of symptoms, such as ataxia, seizures, cognitive decline, and severe dementia, are pathognomonic features of the disease. In addition, different pathological similarities, including degeneration of hippocampal and cortical neurons, hyperphosphorylated tau, and neurofibrillary tangle formation, have been identified between NPC disease and other neurodegenerative pathologies. However, the underlying pathophysiological mechanisms are not yet well understood, and even a real cure to counteract neurodegeneration has not been identified. Therefore, the combination of current pharmacological therapies, represented by miglustat and cyclodextrin, and non-pharmacological approaches, such as physical exercise and appropriate diet, could represent a strategy to improve the quality of life of NPC patients. Based on this evidence, in our review we focused on the neurodegenerative aspects of NPC disease, summarizing the current knowledge on the molecular and biochemical mechanisms responsible for cognitive impairment, and suggesting physical exercise and nutritional treatments as additional non-pharmacologic approaches to reduce the progression and neurodegenerative course of NPC disease.

scholarly journals Relationship between Family Anxiety, Family Support and Quality of Life of Attention Defcit Hiperactivity Disorder (Adhd) Children

2019 ◽  
Vol 7 (2) ◽  
Author(s):  
Adelse Prima Mulya ◽  
Desy Indra Yani ◽  
Citra Windani Mambang Sari
Keyword(s):  
Quality Of Life ◽  
Family Support ◽  
Pearson Correlation ◽  
Sampling Technique ◽  
Behavioral Disorder ◽  
School Type ◽  
Life Questionnaire ◽  
Impulsive Behavior ◽  
Type C

Attenton Defcit Hiperactivity Disorder (ADHD) is behavioral disorder characterized attention defcit disorder,impulsive behavior, accompanied by excessive activity that is inconsistent with age in childhood, ADHD canimpact the decline in the quality of life of children, some of the factors that influence anxiety among families andfamily support. This study aimed to analyze the relationship between anxiety of family and family support forADHD children’s quality of life in Extraordinary school type C Bandung. The study design was cross-sectionalquantitative analytic. The subject of research totally 87 ADHD families with children aged 8-12 years who attendschool in 5 pieces of extraordinary school type C Bandung but there was something problem like rejection, nohave time and others therefore 63 samples were collected. Sampling using total sampling technique with 3 piecesinventory questionnaire including children’s quality of life questionnaire (PedsQL), family anxiety (STAI-S) andfamily support (CASSS). Data were analyzed using Pearson correlation coefcient. The results showed a correlationbetween anxiety and family support families with ADHD children’s quality of life as well as having a fairly strongcorrelation (r = 0.75 and r = 0.78). That is, an increase or decrease in the quality of life can be determined by changesin the anxiety of family and family support simultaneously. Increased family anxiety can reduce the quality of life ofchildren ADHD whereas the increase in family support can improve the quality of life of children ADHD. Nurses areexpected to increase school health services by involving schools, families and communities as well as the expectednursing policy makers in order to make policy on the procurement of health-based community health nursing school.

Complications associated with intrathecal drug delivery in a paediatric patient with Niemann-Pick type C

2021 ◽  
Vol 14 (5) ◽  
pp. e241786
Author(s):  
Jose Ignacio Rodriguez Rodriguez Ciancio ◽  
Kristian Aquilina
Keyword(s):  
Drug Delivery ◽  
Medicinal Product ◽  
Significant Risk ◽  
Neurological Injury ◽  
Drug Delivery Device ◽  
Intrathecal Drug Delivery ◽  
Type C ◽  
Niemann Pick ◽  
Intrathecal Space

We report on a male subject with a diagnosis of Niemann-Pick type C (NPC). He received an experimental medicinal product intrathecally initially via lumbar puncture (LP) and eventually via intrathecal drug delivery device. Shortly after implantation, the device catheter migrated outside of the intrathecal space and coiled subcutaneously. The treatment continued via LP after removal of the device. A subdural haematoma developed after repeated LPs. It was surgically evacuated and the patient recovered with sequelae. Surgically implanted drug delivery devices are designed to bypass the blood–brain barrier and deliver a medicinal product directly into the cerebrospinal fluid circulation. Their use has extended into the field of neurodegenerative disorders. Significant adverse events can occur at any given time after implantation including neurological injury, dislodgement or displacement of any of its components, infection and drug-related complications; all can significantly affect the quality of life of patients. Repeated LPs also carry significant risk.

scholarly journals Impact of Intravenous Trehalose Administration in Patients with Niemann–Pick Disease Types A and B

2022 ◽  
Vol 11 (1) ◽  
pp. 247
Author(s):  
Moein Mobini ◽  
Shabnam Radbakhsh ◽  
Francyne Kubaski ◽  
Peyman Eshraghi ◽  
Saba Vakili ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Clinical Symptoms ◽  
Serum Biomarkers ◽  
Acid Sphingomyelinase ◽  
Open Label ◽  
Niemann Pick Disease ◽  
Number Of Patients ◽  
Niemann Pick ◽  
Pick Disease

Background and Aims: Niemann–Pick disease (NPD) types A (NPA) and B (NPB) are caused by deficiency of the acid sphingomyelinase enzyme, which is encoded by the SMPD1 gene, resulting in progressive pathogenic accumulation of lipids in tissues. Trehalose has been suggested as an autophagy inducer with therapeutic neuroprotective effects. We performed a single-arm, open-label pilot study to assess the potential efficacy of trehalose treatment in patients with NPA and NPB patients. Methods: Five patients with NPD type A and B were enrolled in an open-label, single-arm clinical trial. Trehalose was administrated intravenously (IV) (15 g/week) for three months. The efficacy of trehalose in the management of clinical symptoms was evaluated in patients by assessing the quality of life, serum biomarkers, and high-resolution computed tomography (HRCT) of the lungs at the baseline and end of the interventional trial (day 0 and week 12). Results: The mean of TNO-AZL Preschool children Quality of Life (TAPQOL) scores increased in all patients after intervention at W12 compared to the baseline W0, although the difference was not statistically significant. The serum levels of lyso-SM-509 and lyso-SM were decreased in three and four patients out of five, respectively, compared with baseline. Elevated ALT and AST levels were decreased in all patients after 12 weeks of treatment; however, changes were not statistically significant. Pro-oxidant antioxidant balance (PAB) was also decreased and glutathione peroxidase (GPX) activity was increased in serum of patients at the end of the study. Imaging studies of spleen and lung HRCT showed improvement of symptoms in two patients. Conclusions: Positive trends in health-related quality of life (HRQoL), serum biomarkers, and organomegaly were observed after 3 months of treatment with trehalose in patients with NPA and NPB. Although not statistically significant, due to the small number of patients enrolled, these results are encouraging and should be further explored.

Self-Compassion and Quality of Life in Adults Who Stutter

2020 ◽  
Vol 29 (4) ◽  
pp. 2097-2108
Author(s):  
Robyn L. Croft ◽  
Courtney T. Byrd
Keyword(s):  
Quality Of Life ◽  
Social Connectedness ◽  
The Self ◽  
Future Research ◽  
Self Compassion ◽  
Adults Who Stutter ◽  
And Gender ◽  
Relationship Of ◽  
The Impact

Purpose The purpose of this study was to identify levels of self-compassion in adults who do and do not stutter and to determine whether self-compassion predicts the impact of stuttering on quality of life in adults who stutter. Method Participants included 140 adults who do and do not stutter matched for age and gender. All participants completed the Self-Compassion Scale. Adults who stutter also completed the Overall Assessment of the Speaker's Experience of Stuttering. Data were analyzed for self-compassion differences between and within adults who do and do not stutter and to predict self-compassion on quality of life in adults who stutter. Results Adults who do and do not stutter exhibited no significant differences in total self-compassion, regardless of participant gender. A simple linear regression of the total self-compassion score and total Overall Assessment of the Speaker's Experience of Stuttering score showed a significant, negative linear relationship of self-compassion predicting the impact of stuttering on quality of life. Conclusions Data suggest that higher levels of self-kindness, mindfulness, and social connectedness (i.e., self-compassion) are related to reduced negative reactions to stuttering, an increased participation in daily communication situations, and an improved overall quality of life. Future research should replicate current findings and identify moderators of the self-compassion–quality of life relationship.

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