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Intervention, Education and Learning Strategies in a Lifetime Perspective

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Intervention, Education and Learning Strategies in a Lifetime Perspective Juvenile neuronal ceroid lipofuscinosis (JNCL) is a rare neurological condition characterized by the onset of blindness and dementia in childhood, but Juvenile Neuronal Ceroid Lipofuscinosis, with considerable individual differences. This book is concerned with the developmental course of the Childhood Dementia and Education disease and educational and non-medical intervention for children and young people with this condition. The book is based on an international project on JNCL, Lipofuscinosis, Ceroid Juvenile Neuronal Intervention, education and learning strategies dementia and education, and presents evidence-based Childhood Dementia and Education in a lifetime perspective practices in various areas. It gives the reader insight into educational strategies and tools which may support learning and maintenance of knowledge and skills in children and young people with JNCL, as well as the experiences of parents and staff. The text is illustrated with many small case stories. The chapters are written by professionals and parents from different countries and give a broad knowledge foundation for planning education for students with JNCL and contributing to their learning and a meaningful life. The book is intended as a knowledge base and source of practice for parents, educators and support staff. The book focuses on JNCL and its many manifestations and symptoms, but may be useful also for professionals working with other young people with early blindness or dementia. Edited by ISBN 978-82-7083-563-8 Stephen von Tetzchner, Bengt Elmerskog, Anne-Grethe Tøssebro and Svein Rokne Juvenile Neuronal Ceroid Lipofuscinosis, Childhood Dementia and Education Juvenile Neuronal Ceroid Lipofuscinosis, Childhood Dementia and Education Intervention, education and learning strategies in a lifetime perspective Edited by Stephen von Tetzchner, Bengt Elmerskog, Anne-Grethe Tøssebro and Svein Rokne A step towards an extended curriculum – Conclusions and recommendations from the Erasmus+ sponsored project «JNCL and Education». Published by: SNØFUGL FORLAG www.snøfugl.no ISBN 978-82-7083-563-8 Design and cover: IQ DESIGN Janett Alice Olijnyk www.iq-design.no Heidi Tangen, Statped Midt, Norway, has designed Figures 3.3, 16.4–16.7 and 16.10 Print: INDEVELOP Riga Content Foreword Project Members and Authors 1 Introduction Stephen von Tetzchner, Bengt Elmerskog, Anne-Grethe Tøssebro and Svein Rokne 23 The NCL spectrum ................................................................................. 23 The course of JNCL ................................................................................ 24 Evidence-based practice ......................................................................... 27 Education as a leading activity from childhood to emergent adulthood ................................................ 28 JNCL and education ............................................................................... 28 Registry .................................................................................................. 31 Overview ................................................................................................ 31 References .............................................................................................................................. 32 2 A Developmental Perspective on Juvenile Neuronal Ceroid Lipofuscinosis Stephen von Tetzchner 35 The concept of development ......................................................................................... 35 Development may imply both progression and regression ......................... 39 The zones of proximal development and developmental maintenance ................................................................................ 40 The role of planning in atypical development .................................................... 42 References .............................................................................................................................. 43 3 Medical Aspects of Juvenile Neuronal Ceroid Lipofuscinosis Alfried Kohlschütter, Jonathan D. Cooper, Sara E. Mole, John R. Østergaard and Angela Schulz 45 Definition of JNCL ............................................................................................................ 45 Genetic causes of JNCL ................................................................................................... 46 Disease mechanisms in JNCL ...................................................................................... 47 Diagnosis of JNCL ............................................................................................................. 49 Medical treatment of JNCL .......................................................................................... 51 Common problems during disease progression ................................................. 51 Concluding comments ..................................................................................................... 60 References .............................................................................................................................. 60 4 Development and Loss of Vision Bengt Elmerskog and Stephen von Tetzchner 63 Visual impairment ............................................................................................................. 63 Consequences of visual impairment ........................................................................ 64 Visual impairment in individuals with JNCL ..................................................... 68 Conclusions ........................................................................................................................... 71 References .............................................................................................................................. 72 5 Dementia in Adulthood and Childhood Per Kristian Haugen, Stephen von Tetzchner, Judith D. Oxley and Bengt Elmerskog 75 Dementia ................................................................................................................................ 76 Attention ................................................................................................................................ 78 Memory .................................................................................................................................. 79 Executive functions ........................................................................................................... 82 Dementia in JNCL ............................................................................................................. 83 Dementia and practice related to JNCL .................................................................. 87 References .............................................................................................................................. 89 6 Language Development and Attrition in Juvenile Neuronal Ceroid Lipofuscinosis Anne-Grethe Tøssebro and Stephen von Tetzchner 93 Language comprehension and production .......................................................... 93 Language development in children with JNCL .................................................. 94 Language attrition in JNCL .......................................................................................... 95 Observations and assessments .................................................................................. 101 Consequences of language loss ................................................................................... 104 References .............................................................................................................................. 105 7 Motor Development and Loss in Individuals with Juvenile Neuronal Ceroid Lipofuscinosis Bengt Elmerskog and Riikka Hokkanen 109 Motor functions and impairment .............................................................................. 109 Decline of motor function and activities in individuals with JNCL ........ 111 Visual impairment ............................................................................................................. 113 Effect of motor and visual impairments on activities ..................................... 114 Physical activity, cognition and childhood dementia ....................................... 117 Dementia, physical activity and JNCL .................................................................... 119 Conclusions ........................................................................................................................... 119 References .............................................................................................................................. 120 8 Ethical Issues Related to Working with Individuals with Juvenile Neuronal Ceroid Lipofuscinosis Stephen von Tetzchner and Finn Hesselberg 125 Ethical reflection and professional practice ........................................................... 126 Understanding the lifeworlds of people with disabilities .............................. 130 Disability, ethics and human rights .......................................................................... 131 Ideal and pragmatic services ......................................................................................... 133 Concluding remarks .......................................................................................................... 134 References .............................................................................................................................
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