scholarly journals Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Eugen Mengel ◽  
Marc C. Patterson ◽  
Michael Chladek ◽  
Christina Guldberg ◽  
Christine í Dali ◽  
...  

Abstract Background Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy. Since there is little qualitative research from the perspective of patients and family caregivers, this study explored the impact of NPC on patients’ and caregivers’ daily lives to understand the burden of disease. Results A survey of caregivers for patients with NPC and adult patients with NPC (n = 49; patient age: 13 months–65 years) assessed NPC severity, importance of NPC symptoms, and how symptoms impacted patients’ and caregivers’ activities of daily living (ADLs) and health-related QOL (HRQOL). Follow-up interviews with a subset of survey participants (n = 28) explored the ranking of NPC symptom importance and impact on ADLs and HRQOL. Findings indicated that the most important manifestations of NPC were ambulation, swallowing, speech, fine motor skills, and cognition, which were those that had the most significant impact on ADLs and HRQOL. A wide range of ADLs were affected by NPC, mainly eating/drinking and the ability to perform daily tasks, including self-care, communicating, participating in school or work, and moving indoors as well as outside the home. Along with these impacts, there was an increased risk of experiencing dangerous or life-threatening situations leading to loss of patient independence and additional caregiver burden, often requiring changes in lifestyle such as giving up work. All aspects of patients’ and caregivers’ HRQOL were affected. Participants reported feelings of social isolation, loss of enjoyment in activities (patients), and feelings of sadness or worry (caregivers). Conclusions Ambulation, swallowing, speech, fine motor skills, and cognition are important manifestations of NPC. ADLs and HRQOL were impaired in the majority of patients as well as their caregivers. The findings were independent of current age, age of onset of symptoms, and level of NPC disease-related disability; however, the impact increased at higher levels of disease disability. Knowing the impact of NPC on patients and caregivers is important for understanding the lived experience of NPC and for identifying potential areas of support.

2021 ◽  
Author(s):  
Eugen Mengel ◽  
Marc C Patterson ◽  
Michael Chladek ◽  
Christina Guldberg ◽  
Christine íDali ◽  
...  

Abstract Background Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy. Since there is little qualitative research from the perspective of patients and family caregivers, this study explored the impact of NPC on patients’ and caregivers’ daily lives to understand the burden of disease.Results A survey of caregivers for patients with NPC and adult patients with NPC (n = 49; patient age: 13 months – 65 years) assessed NPC severity, importance of NPC symptoms, and how symptoms impacted patients’ and caregivers’ activities of daily living (ADLs) and health-related QOL (HRQOL). Follow-up interviews with a subset of survey participants (n = 28) explored the ranking of NPC symptom importance and impact on ADLs and HRQOL.Findings indicated that the most important manifestations of NPC were ambulation, swallowing, speech, fine motor skills, and cognition, which were those that had the most significant impact on ADLs and HRQOL. A wide range of ADLs were affected by NPC, mainly eating/drinking and ability to perform daily tasks, including self-care, communicating, participating in school or work, and moving indoors as well as outside the home. Along with these impacts, there was an increased risk of experiencing dangerous or life-threatening situations leading to loss of patient independence and additional caregiver burden, often requiring changes in lifestyle such as giving up work. All aspects of patients’ and caregivers’ HRQOL were affected. Participants reported feelings of social isolation, loss of enjoyment in activities (patients), and feelings of sadness or worry (caregivers).ConclusionsAmbulation, swallowing, speech, fine motor skills, and cognition are important manifestations of NPC. ADLs and HRQOL were impaired in the majority of patients as well as their caregivers. The findings were independent of current age, age of onset of symptoms, and level of NPC disease-related disability; however, the impact increased at higher levels of disease disability. Knowing the impact of NPC on patients and caregivers is important for understanding the lived experience of NPC and for identifying potential areas of support.Trial registrationNCT02612129. Registered 23 November 2015, https://clinicaltrials.gov/ct2/show/NCT02612129


Author(s):  
Dr. Manish Bhardwaj ◽  
Dr. R. K. Sureka ◽  
Dr. Surendra Kumar Meena ◽  
Dr. Neha Jain

The occupational therapy has a decisive role in restoring fine motor skills in post stroke patients. The purpose of this study was to compile all the information pertaining to the assessment and treatment performed by occupational therapist. This study amass the complete personification of occupational therapy from the need of theoretical basis to the practical treatment aspects. The study covers the basic idea of stroke and complications arose in the normal movements and leads towards the complete functional aspects of the motor function of human hand. The position of occupational therapy in a rehabilitation team and a detailed knowledge of areas of occupational therapy related to fine motor skills helps to grab the evaluation process used and treatment protocol prescribed to restore fine motor skills after stroke. It helps to gain a detailed know-how of tools and instruments used for assessment and techniques used in the treatment of stroke that focuses on fine motor skills. This study reveals that occupational therapy as its specialty in hand rehabilitation has a wide range of assessments, treatment and management protocols to pursue the treatment of a variety of areas of hand rehabilitation including fine motor skills after an event of stroke


2018 ◽  
Vol 25 (1) ◽  
pp. 16-22
Author(s):  
Waldemar Skowroński ◽  
Witold Winnicki ◽  
Grzegorz Bednarczuk ◽  
Izabela Rutkowska ◽  
Witold Rekowski

Abstract Introduction. Physical fitness affects motor and intellectual development. Having a wide range of motor skills makes it possible to learn about the surrounding world and expand one’s knowledge. In the case of persons with intellectual disabilities, mastering gross and fine motor skills is the core of their development and functioning in society. The aim of the study was to analyse the relationship between physical fitness, gross and fine motor skills, and the level of functioning in schoolchildren with intellectual disabilities. Material and methods. The study involved 62 subjects whose age ranged from 9 to 24 years. Due to the large size and homogeneity of the group, the results of 26 subjects were considered in the analysis: 12 girls and 14 boys with moderate intellectual disability. Physical disability as well as gross and fine motor skills were measured with the BOT-2, TGMD- 2, and Eurofit Special tests. The level of functioning in society was assessed with a specially designed ICF-based questionnaire. Results. The study showed that girls had better motor skills than boys; this was reflected in the participants’ level of functioning as girls displayed a higher level of functioning. Boys, despite better physical fitness, were ranked on a lower level of functioning. Conclusions. A relationship was found between gross and fine motor skills and the level of functioning, assessed with BOT-2 and TGMD-2. No relationship was found between physical fitness, assessed with Eurofit Special, and the level of functioning. Instead of using assessment tools for general fitness, one should measure specific motor skills when assessing physical and motor development in children with intellectual disabilities.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Marc C. Patterson ◽  
Lucy Lloyd-Price ◽  
Christina Guldberg ◽  
Helen Doll ◽  
Claire Burbridge ◽  
...  

Abstract Background Niemann-Pick disease type C (NPC) is an ultra-rare, progressive, genetic disease leading to impaired lysosomal function and neurodegeneration causing serious morbidity and shortened life expectancy. The Niemann-Pick type C Clinical Severity Scale (NPCCSS) is a 17 domain, disease-specific, clinician-reported outcome measure of disease severity and progression. An abbreviated 5-domain NPCCSS scale has been developed (measuring Ambulation, Swallow, Cognition, Speech, and Fine Motor Skills) and the scale reliability has been established. Additional psychometric properties and meaningful change of the scale need, however, to be assessed. Methods Mixed method studies were conducted to ascertain which NPCCSS domains were most important, as well as to explore meaningful change: 1) surveys in caregivers/patients (n = 49) and 2) interviews with clinicians (n = 5) as well as caregivers/patients (n = 28). Clinical trial data (n = 43) assessed construct validity and meaningful change through an anchor-based approach. Results Domains identified as most important by clinicians, caregivers, and patients (independent of current age, age of onset, and disease severity) were Ambulation, Swallow, Cognition, Speech, and Fine Motor Skills, indicating content validity of the 5-domain NPCCSS. Criterion validity was shown with the 5-domain NPCCSS being highly correlated with the 17-item NPCCSS total score (excluding hearing domains), r2 = 0.97. Convergent validity was demonstrated against the 9 Hole Peg Test, r2 = 0.65 (n = 31 patients), and the Scale for Assessment and Rating of Ataxia (SARA), r2 = 0.86 (n = 49 patients). Any change was seen as meaningful by patients/caregivers across domains. Meaningful change using trial data and interviews with NPC experts (n = 5) and patients/caregivers (n = 28) suggested that a 1-category change on a domain is equivalent to 1-point change or greater in the 5-domain NPCCSS total score. Conclusions Qualitative and quantitative data support content and construct validity of the 5-domain NPCCSS score as a valid endpoint in NPC trials. A 1-category change on any domain is equivalent to 1-point change or greater in the 5 domain NPCCSS total score, representing a clinically meaningful transition and reflecting loss of complex function and increased disability. Trial registration NCT02612129. Registered 23 November 2015, https://clinicaltrials.gov/ct2/show/NCT02612129


2018 ◽  
Vol 16 (1) ◽  
pp. 35
Author(s):  
Nia Sutisna ◽  
Yeni Rachmawati

Kesulitan yang dihadapi oleh anak cerebral palsy dengan tipe spastik yaitu ia memiliki kesulitan dalam menggunakan otot-ototnya untuk bergerak, disebabkan adanya kekejangan pada otot, akibatnya gerakan tubuh menjadi terbatas dan lambat. Dampak dari kekejangan atau kekakuan yang dialami anak cerebral palsy tipe spastik diantaranya adalah hambatan dalam melakukan kegiatan yang berkaitan dengan kemampuan otot, yaitu kemampuan motorik halus seperti dalam kegiatan bina diri dan belajar. Untuk mengembangkan kemampuan motorik halus pada siswa cerebral palsy tipe spastik dibutuhkan suatu metode atau aktivitas pembelajaran yang tepat agar kemampuan motorik halus yang dimiliknya dapat dikembangkan. Salah satunya dengan aktivitas kolase yang dilakukan guna melatih motorik halus anak, koordinasi mata dan tangan melalui sebuah aktivitas yang menyenangkan serta bermanfaat. Kolase merupakan teknik yang kaya akan aktivitas yang memungkinkan untuk mengembangkan keterampilan motorik halus terutama kelenturan dalam menggunakan jari-jarinya seperti merobek dan menempel. Penelitian ini dilakukan untuk mengetahui apakah aktivitas kolase berpengaruh terhadap peningkatan kemampuan motorik halus pada siswa cerebral palsy tipe spastik kelas VII di SMPLB-D YPAC Bandung. Metode penelitian yang digunakan adalah Single Subject Research (SSR) dengan desain penelitian A-B-A. Teknik pengumpulan data melalui tes perbuatan dan teknik analisis data menggunakan persentase, dengan indikator mampu mengambil dan meletakkan benda dalam berbagai posisi, mampu memasang dan melepas resleting celana, serta mampu memasang dan melepas kancing baju. Hasil penelitian diperoleh mean level baseline 1 (A-1) sebesar 50,97%, mean level intervensi (B) sebesar 71,8% dan mean level baseline 2 (A-2) sebesar 85,29%. Hasil penelitian ini menyatakan bahwa melalui aktivitas kolase dapat meningkatkan kemampuan motorik halus pada siswa cerebral palsy tipe spastik (MBY), terbukti dari kenaikan mean level pada setiap sesi. Hasil penelitian ini sekiranya dapat dijadikan bahan pertimbangan bagi pendidik dalam pemilihan aktivitas pembelajaran pada anak cerebral palsy. Difficulties arising from the child's spastic cerebral palsy type is a person who has difficulty in using his muscles to move that affects muscle spasm. The impact of spasticity or stiffness experienced by children of cerebral palsy type is an obstacle in performing activities related to muscle ability. To develop fine motor abilities in students, the type of cerebral palsy spastic technology or the proper learning activities for fine motor skills that can be developed. This study was conducted to determine whether the collage process can improve fine motor skills in grade VII cerebral palsy spastic students at SMPLB-D YPAC Bandung. The research method used is Single Subject Research (SSR) with A-B-A research design. Data processing techniques through tests and data analysis techniques using percentages, with indicators that can be used in various positions, able to load and finish pants, and able to lift and remove clothes. The result of the research obtained average level of baseline 1 (A-1) equal to 50,97%, mean intervention level (B) equal to 71,8% and mean level of baseline 2 (A-2) equal to 85,29%. The results of this study suggest that through the collage stage can improve fine motor skills in students of cerebral palsy spastic type (MBY), as evidenced by the increase in the average rate in each session.


2020 ◽  
Vol 2 (1) ◽  
pp. 89-99
Author(s):  
Sumardi Sumardi ◽  
Lutfi Nur ◽  
Peny Anggraeni

ABSTRACTEarly childhood is laying the foundation for growth and development is crucial for the child in the future. To be able to support that teachers should provide a wide range of strategies to achieve the expected competencies based on standard achievement level child development (STPPA). The scope of development listed in STPPA among which the religious and moral values, physical, motor, cognitive, language, social, emotional and artistic. Based on observations conducted in children aged 5-6 years group B TK Sejahtera 4 motor ability in the physical aspects of the scope of the development of fine motor skills are still low, especially related to the children imitate the skills varied line, cutting, writing letters of the alphabet and learning hijaiyah this is due to improve fine motor skills is not optimal and does not vary. Researchers hope that by using the right learning media can improve fine motor development and can improve learning outcomes are optimal. To the researchers undergo a learning improvement through action research methods class (PTK) developed by Kemmis McTaggart. Through play dough (play dough) kneading child, print and form. Through the experience of children practicing coordinate eye and hand control, agility and strength are important capabilities that they will need later to write. The results of the study in the first cycle there are 4 children in underdeveloped and 16 children began to grow with the overall percentage of the first cycle of 46% and the number of children who attended as many as 20 children, in the second cycle are 9 children begin to develop and 8 children to develop according expectations with the overall percentage of 63% as well as the number of children who attended were 17 children and the third cycle, there were 13 children develop according to expectations and 4 children is growing very well with the overall percentage of 84% as well as the number of children who attended as many as 17 children. This shows an increase in the fine motor skills of children aged 5-6 years through the use of play dough in group B TK Sejahtera 4 Karsamenak,  Kawalu, Tasikmalaya in the academic year 2016-2017. Pendidikan anak usia dini merupakan penyelenggaraan pendidikan yang menik beratkan pada pertumbuhan dan perkembangan, sedangkan usia dini merupakan peletakkan dasar bagi pertumbuhan dan perkembangan yang sangat menentukan bagi anak di masa depannya. Untuk dapat mendukung hal tersebut guru harus menyediakan berbagai macam strategi guna tercapainya kompetensi yang diharapkan berdasarkan standar tingkat pencapaian perkembangan anak (STPPA). Lingkupnya yaitu nilai agama dan moral, fisik motorik, kognitif, bahasa, sosial emosional dan seni. Berdasarkan hasil observasi yang dilakukan pada anak usia 5-6 tahun kelompok B TK Sejahtera 4 kemampuan dalam aspek fisik motorik lingkup perkembangan motorik halusnya masih rendah terutama yang berhubungan dengan keterampilan anak meniru garis bervariasi, menggunting, menulis huruf abjad dan hijaiyah hal ini disebabkan pembelajaran untuk meningkatkan kemampuan motorik halus belum optimal dan tidak bervariasi. Peneliti berharap media ini dapat meningkatkan perkembangan motorik halus. Untuk itu peneliti melakuan perbaikan pembelajaran melalui metode penelitian tindakan kelas (PTK) yang dikembangkan oleh Kemmis McTaggart. Melalui bermain adonan (play dough) anak meremas, mencetak dan membentuk. Lewat pengalaman tersebut anak berlatih mengkoordinasikan mata dan tangan yang terkontrol, ketangkasan dan kekuatan merupakan kemampuan penting yang mereka akan butuhkan kelak untuk menulis. Hasil penelitian pada siklus I terdapat 4 orang anak belum berkembang dan 16 orang anak mulai berkembang dengan persentase keseluruhan siklus I sebesar 46% serta jumlah anak yang hadir sebanyak 20 orang anak, pada siklus II terdapat 9 orang anak mulai berkembang dan 8 orang anak berkembang sesuai harapan dengan persentase keseluruhan 63% serta jumlah anak yang hadir sebanyak 17 orang anak dan siklus III terdapat 13 orang anak berkembang sesuai harapan dan 4 orang anak berkembang sangat baik dengan persentase keseluruhan 84% serta jumlah anak yang hadir sebanyak 17 orang anak. Hal ini menunjukkan adanya peningkatan kemampuan motorik halus anak usia 5-6 tahun melalui penggunaan play dough pada kelompok B TK Sejahtera 4 Kelurahan Karsamenak Kecamatan Kawalu Kota Tasikmalaya Tahun Pelajaran 2016-2017.


Edupedia ◽  
2019 ◽  
Vol 3 (2) ◽  
pp. 67-77
Author(s):  
Farhatin Masrurah ◽  
Khulusinniyah Khulusinniyah

The first five years of a children’s age is the period of rapid growth with physical and motor development. Those process will develop well if stimulated continuously. Early childhood always identic with high activity requires the opportunity to express their abilities. Therefore playing method is very urgent inchildren’s gross motor skills and fine motor skills development through a variety of playing activities both indoors and outdoors. Playing is an activity that cannot be separated from early childhood’s world. All playing activities will be carried out happily. By the same token learning by playing will be done happily without any sense of being forced or oppressed.


Author(s):  
Domenica A. Merchan-Garcia ◽  
Alejandro S. Enriquez-Mancheno ◽  
Victor H. Uguna-Uguna ◽  
Paola F. Suquilanda-Cuesta ◽  
Vladimir E. Robles-Bykbaev

2020 ◽  
Vol 41 (S1) ◽  
pp. s258-s259
Author(s):  
James Harrigan ◽  
Ebbing Lautenbach ◽  
Emily Reesey ◽  
Magda Wernovsky ◽  
Pam Tolomeo ◽  
...  

Background: Clinically diagnosed ventilator-associated pneumonia (VAP) is common in the long-term acute-care hospital (LTACH) setting and may contribute to adverse ventilator-associated events (VAEs). Pseudomonas aeruginosa is a common causative organism of VAP. We evaluated the impact of respiratory P. aeruginosa colonization and bacterial community dominance, both diagnosed and undiagnosed, on subsequent P. aeruginosa VAP and VAE events during long-term acute care. Methods: We enrolled 83 patients on LTACH admission for ventilator weaning, performed longitudinal sampling of endotracheal aspirates followed by 16S rRNA gene sequencing (Illumina HiSeq), and bacterial community profiling (QIIME2). Statistical analysis was performed with R and Stan; mixed-effects models were fit to relate the abundance of respiratory Psa on admission to clinically diagnosed VAP and VAE events. Results: Of the 83 patients included, 12 were diagnosed with P. aeruginosa pneumonia during the 14 days prior to LTACH admission (known P. aeruginosa), and 22 additional patients received anti–P. aeruginosa antibiotics within 48 hours of admission (suspected P. aeruginosa); 49 patients had no known or suspected P. aeruginosa (unknown P. aeruginosa). Among the known P. aeruginosa group, all 12 patients had P. aeruginosa detectable by 16S sequencing, with elevated admission P. aeruginosa proportional abundance (median, 0.97; IQR, 0.33–1). Among the suspected P. aeruginosa group, all 22 patients had P. aeruginosa detectable by 16S sequencing, with a wide range of admission P. aeruginosa proportional abundance (median, 0.0088; IQR, 0.00012–0.31). Of the 49 patients in the unknown group, 47 also had detectable respiratory Psa, and many had high P. aeruginosa proportional abundance at admission (median, 0.014; IQR, 0.00025–0.52). Incident P. aeruginosa VAP was observed within 30 days in 4 of the known P. aeruginosa patients (33.3%), 5 of the suspected P. aeruginosa patients (22.7%), and 8 of the unknown P. aeruginosa patients (16.3%). VAE was observed within 30 days in 1 of the known P. aeruginosa patients (8.3%), 2 of the suspected P. aeruginosa patients (9.1%), and 1 of the unknown P. aeruginosa patients (2%). Admission P. aeruginosa abundance was positively associated with VAP and VAE risk in all groups, but the association only achieved statistical significance in the unknown group (type S error <0.002 for 30-day VAP and <0.011 for 30-day VAE). Conclusions: We identified a high prevalence of unrecognized respiratory P. aeruginosa colonization among patients admitted to LTACH for weaning from mechanical ventilation. The admission P. aeruginosa proportional abundance was strongly associated with increased risk of incident P. aeruginosa VAP among these patients.Funding: NoneDisclosures: None


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