scholarly journals The quality of life in girls with Rett syndrome

2016 ◽  
Vol 8 (1) ◽  
Author(s):  
Lucia Parisi ◽  
Teresa Di Filippo ◽  
Michele Roccella
Keyword(s):  
Quality Of Life ◽  
Rett Syndrome ◽  
Research Quality ◽  
Entire Family ◽  
Severe Intellectual Disability ◽  
Common Causes ◽  
The Central Nervous System ◽  
Considerable Impact ◽  
The Impact

Nowadays, quality of life is receiving an increasing attention in all scientific areas. Rett syndrome (RTT) is a rare neurological development, affecting mainly females. The congenital disease affects the central nervous system, and is one of the most common causes of severe intellectual disability. The aim of our study is to evaluate the effect of RTT on the quality of life of people who are affected. Both parents of 18 subjects, all female, diagnosed with RTT, took part in the research. Quality of life was assessed using the Italian version of the Impact of Childhood Illness Scale. This scale consists of 30 questions that investigate the effect of illness on children, parents and families. For each question, the parent was asked to rate two variables: frequency and importance. Another questionnaire was administered to obtain medical history, diagnostic and therapeutic data of the persons with RTT. Our data show that RTT has a considerable impact on both the child’s development and the entire family. Parents’ answers demonstrated that their child’s illness had consequences for the child and how the family coped with it. For this reason, attention should be directed at psychological and social aspects, as well as attitudes, manners, reactions and effects such disturbances can have on the entire family.

scholarly journals The quality of life in girls with Rett syndrome

2016 ◽  
Vol 8 (1) ◽  
pp. 5-9 ◽  
Author(s):  
Lucia Parisi ◽  
Teresa Di Filippo ◽  
Michele Roccella
Keyword(s):  
Quality Of Life ◽  
Rett Syndrome ◽  
Research Quality ◽  
Entire Family ◽  
Severe Intellectual Disability ◽  
The Family ◽  
Common Causes ◽  
The Central Nervous System ◽  
Considerable Impact

Nowadays, quality of life is receiving an increasing attention in all scientific areas. Rett syndrome (RTT) is a rare neurological development, affecting mainly females. The congenital disease affects the central nervous system, and is one of the most common causes of severe intellectual disability. The aim of our study is to evaluate the effect of RTT on the quality of life of people who are affected. Both parents of 18 subjects, all female, diagnosed with RTT, took part in the research. Quality of life was assessed using the Italian version of the Impact of Childhood Illness Scale. This scale consists of 30 questions that investigate the effect of illness on children, parents and families. For each question, the parent was asked to rate two variables: frequency and importance. Another questionnaire was administered to obtain medical history, diagnostic and therapeutic data of the persons with RTT. Our data show that RTT has a considerable impact on both the child's development and the entire family. Parents' answers demonstrated that their child's illness had consequences for the child and how the family coped with it. For this reason, attention should be directed at psychological and social aspects, as well as attitudes, manners, reactions and effects such disturbances can have on the entire family.

Assistive Technology to Promote Adaptive Skills in Children and Adolescents With Rett Syndrome

2022 ◽  
pp. 131-146
Author(s):  
Donatella Ciarmoli
Keyword(s):  
Quality Of Life ◽  
Rett Syndrome ◽  
Assistive Technologies ◽  
Genetic Syndromes ◽  
Motor Impairments ◽  
Use Of Technology ◽  
Adaptive Responding ◽  
Clinical Conditions ◽  
The Impact

Rett syndrome is classified within the rare genetic syndromes, characterised by intellectual delays, extensive motor impairments, lack of speech and communication difficulties, sensorial deficits, and problems in adaptive responding. That clinical conditions may be deleterious on their social image, status, and quality of life. A practice for addressing this problem is technology-based interventions. The use of assistive technologies, in particular microswitches, with children with RTT has been shown to effectively change the impact on their quality of life, facilitating access to recreational activities and improving their performance. Through the use of technology-aided programs, a child with RTT and multiple disabilities will be ensured with an independent access to positive stimulation. In this chapter, a selective literature review was carried out considering Rett Syndrome, assistive technologies, quality of life, and rare genetic syndromes. Empirical data demonstrated the effectiveness and suitability of interventions with AT, allowing participants to increase their level of independence.

Swollen limbs: The impact on quality of life

2004 ◽  
Vol 10 (2) ◽  
pp. 90 ◽  
Author(s):  
T. Natasha Posner ◽  
Sirous Momenzadeh
Keyword(s):  
Quality Of Life ◽  
Body Image ◽  
Lymph Nodes ◽  
Chronic Condition ◽  
Considerable Impact ◽  
Emotional Dimensions ◽  
The Impact

A swollen limb from lymphoedema is a chronic condition that has not had a high medical profile. Very little research on how it is experienced has been carried out. This paper reports on part of the results of a survey of 137 people with lymphoedema conducted among members of the Lymphoedema Association of Queensland. One of the aims of the study was to assess the degree and nature of the impact of the condition on individual lives. Responses to two open-ended questions were analysed, revealing a considerable variation in the effects of the condition from ?minimal? to ?devastating?, and a range of impacts across functional and emotional dimensions. The condition can substantially reduce mobility and capacity for many activities, cause embarrassment and distress, and make wearing normal clothes difficult, and thus can have a considerable impact on quality of life. For many, the condition is secondary to treatment for cancer, resulting from removal of lymph nodes, and develops with no prior warning or information at a time when recovery from cancer is in prospect. This can make acceptance, participation in treatment and adjustment particularly difficult. Our data map the nature of the impact of a swollen limb (or limbs) on quality of life and body image.

The importance of support and forms of kinesiotherapeutic activity of family members of persons affected by Parkinson’s disease

2019 ◽  
Vol 6 (1) ◽  
pp. 1-7
Author(s):  
Aleksandra Wróbel ◽  
Piotr Wróbel ◽  
Ewa Otfinowska
Keyword(s):  
Quality Of Life ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family Support ◽  
Family System ◽  
Well Being ◽  
Entire Family ◽  
Permanent Disability ◽  
The Impact

Parkinson’s disease is a chronic and progressive degenerative disease of the central nervous system. The disorder is classified as extra pyramidal system diseases. In order to improve the patient’s condition and increase the level of quality of life, pharmacological treatment and rehabilitation are used to eliminate progressive disability. The help of the surrounding environment affects not only the course of the disease, but above all the emotional well-being of the patient. Family support and its participation in the whole therapeutic process greatly optimize its results. The aim of this work is to present the most important issues regarding kinesiotherapy in Parkinson’s disease and to demonstrate the impact of the involvement of the whole family system on the course and results of therapy. Kinesiotherapy as an element of treatment plays a very important role in the process of improving and adapting the patient to perform daily nursing activities. Kinesiotherapeutic treatments have not only a significant impact on the symptoms occurring in the course of the disease, but also on the overall health. The individual selection of therapy and the involvement of the entire team of therapists is extremely important in eliminating both movement and extrinsic symptoms. The correct implementation of the physiotherapist’s recommendations, the patient’s involvement, as well as the active participation of the patient’s environment, is a condition for the effectiveness of the entire process of maintaining health and fitness. Kinesiotherapy prevents permanent disability and helps maintain the longest possible independence and good quality of life. The involvement of the entire family support system has an impact on the results of the therapy.

QOLP-32. EFFECT OF CANNABIS USE ON QUALITY OF LIFE AMONG GLIOMA PATIENTS: A LONGITUDINAL PERSPECTIVE

2021 ◽  
Vol 23 (Supplement_6) ◽  
pp. vi190-vi190
Author(s):  
Eduardo Rodriguez Almaraz ◽  
Susan Chang ◽  
Nancy Ann Oberheim-Bush ◽  
Jennifer Clarke ◽  
Jennie Taylor ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Cannabis Use ◽  
Primary Tumors ◽  
Eortc Qlq C30 ◽  
Term Basis ◽  
The Central Nervous System ◽  
The Difference ◽  
Eortc Qlq ◽  
The Impact

Abstract BACKGROUND Gliomas are devastating primary tumors of the central nervous system that often present with difficult to manage symptoms in addition to the antineoplastic tumor itself. Due to recent increase in popularity and societal acceptance of cannabis products, their use by glioma patients has increased. METHODS We conducted a single center, prospective study: patients with glioma answered a locally validated survey to inquire about their cannabis use at baseline and every three months. Quality of Life was measured using the EORTC QLQ-C30, its complementary module BN-20 and the EQ-5D-5L instrument. Eligible participants were classified as cannabis users or non-users. We performed linear regression clustered by subjects to see differences by user group and trends overtime. RESULTS To date, 89 patients agreed to participate, enrolled, and answered the baseline questionnaires, and 64 have answered the 3 month follow up survey. The mean age was 49.7(SD 13.74), 55 were male, 55 were cannabis users at baseline (61.8%) and 34 at 3 months (53.13%). Patients who were cannabis users scored 11.73 lower points at baseline when compared to non-users (79.65 [SD 18.93] vs 67.92 [SD 19.22]) in the QLQ-C30 instrument. Similarly, cannabis users recorded 9.624 lower points at 3 months compared to non-users (70.1 [SD 21.33] vs 79.72 [SD13.95]). The difference-in-difference estimator was 2.108 (p< 0.7). CONCLUSION Although we observed cannabis users scoring lower QoL measurements (p< 0.05) at baseline and 3 months, we observed a slight improvement in QoL of cannabis users while observing no change or decline (in some measures) among non-users. Our findings provide insight to the impact that cannabis has in QoL over time. While not conclusive, these preliminary results need to be studied on a longer-term basis with a larger sample size in order to detect trends on quality of life among patients with different tumor types.

The Quality of life among adult Sudanese patients with epilepsy

2021 ◽  
Author(s):  
Amira Siddig ◽  
Abbasher Hussien Mohamed Ahmed ◽  
Khabab Abbasher Hussien Mohamed Ahmed ◽  
Mohammed Eltahier Abdalla Omer
Keyword(s):  
Quality Of Life ◽  
Demographic Characteristics ◽  
Brain Disorder ◽  
Item Questionnaire ◽  
Considerable Impact ◽  
The Mean ◽  
Patients With Epilepsy ◽  
The Impact ◽  
Ilae Classification

Abstract Introduction: Epilepsy is the most common serious brain disorder worldwide, the impact of it on quality of life can be substantial with far-reaching and life-long consequences despite all this very few studies have been carried out on the QOL in epilepsy. Objectives: To investigate the quality of life in adult Sudanese patients with epilepsy attending Daoud charity clinic June to July 2018.Methodology: Thirty six adult Sudanese patients with epilepsy were included in the study, a multi item questionnaire graded scale and check list to explore the demographic characteristics were used to assess the impact of epilepsy on QOL. Respondents were adults aged at least 18 years old with a diagnosis of epilepsy for more than 3 months the unpaired t-test or one way analysis of variances was used to compare means of QOL scores between groups. Results: Out of 360 patients 190 were males and 170 were females, the mean of age was 34.81.The most frequent type of epilepsy according to the ILAE classification was the generalized tonic clonic (78.4% of patients) .40.5% of patients had < 1 seizure per month during last year while 40.5% had more than 1 seizure per month and 16.2% were free of seizure during last year. The mean total score QOLIE-31 of this study was 43.97_+ 4.78 .Sex, age and marital state did not affect QOL scores. The study showed that type of seizure and duration of epilepsy did appear to be predictive of HRQOL .Adverse effects of antiepileptic drugs (AEDs) have a considerable impact on quality of life and contribute to treatment failure in up to 40% of patients Conclusion: The decrease in overall score of quality of life in adult Sudanese patients is multifactorial.

scholarly journals The impact of severe rare chronic neurological disease in childhood on the quality of life of families—a study on MLD and PCH2

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Louisa Ammann-Schnell ◽  
Samuel Groeschel ◽  
Christiane Kehrer ◽  
Saskia Frölich ◽  
Ingeborg Krägeloh-Mann
Keyword(s):  
Quality Of Life ◽  
Disease Stage ◽  
Published Data ◽  
Healthy Children ◽  
Family Impact ◽  
Entire Family ◽  
Personalized Care ◽  
Families With Children ◽  
The Impact

Abstract Background Rare and severe neurological disorders in childhood not only heavily affect the life perspective of the patients, but also their caregivers and families. The aim of this study was to investigate the impact of such diseases on the family, especially on the quality of life and life perspectives of parents, but also on the families’ everyday life, based on the model of two diseases which have been well described in recent years with respect to symptoms and course: metachromatic leukodystrophy (MLD) and pontocerebellar hypoplasia type 2 (PCH2). PCH2 is a primary severe developmental disorder, while children with MLD initially develop normally and then progressively deteriorate. Methods Using a semi-standardized questionnaire, 43 families with children suffering from MLD (n = 30) or PCH2 (n = 19) reported data on the severity of the illness/symptoms, on family support and the care situation, as well as on the circumstances of non-affected siblings and the parents’ work situation. In addition, the quality of life of parents and general family functioning was assessed using the PedsQL™ Family Impact Module [23]. Results for the latter were compared to published data from families with children without any chronic condition using student’s t-tests for independent samples. Potential factors influencing the PedsQL™ scores were analyzed using Spearman’s rank correlation. Results Parents of children with MLD and PCH2 reported significantly lower health-related quality of life (HRQOL) compared to parents of healthy children (P < 0.001). Mothers showed significantly poorer HRQOL (P < 0.05) and were significantly more dissatisfied with their professional development (P < 0.05) than fathers, and this was seen in relation to their child's disease. Neither the form of disease (‘primary’ symptomatic PCH2 or ‘secondary’ symptomatic MLD), nor the severity of the child’s illness (in terms of gross motor and speech function) had a specific impact on HRQOL in families. However, the time from diagnosis and advanced symptoms in the terminal disease stage were experienced as especially distressing. Conclusions This study illustrates that MLD and PCH2 affect mothers in particular, but also the entire family. This underlines the need for personalized care and counselling of parents and families, especially following diagnosis and during the end stage in a child with a severe, rare chronic neurological disorder.

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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