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Skei, Lynn; von Tetzchner, Stephen; Hartshorne, Timothy; Skei, Sigmund & Landrø, Nils Inge
(2023).
Executive Functions in a Population of Individuals with CHARGE Syndrome: Findings from Performance-Based and Rating Scale Measures According to a 3-Factor Model.
Developmental Neurorehabilitation.
ISSN 1751-8423.
doi:
10.1080/17518423.2023.2242942.
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Skei, Lynn; Skei, Sigmund; von Tetzchner, Stephen; Hartshorne, Timothy & Landrø, Nils Inge
(2023).
The assessment and diagnosis of intellectual disability when development is atypical. A Norwegian population study of individuals with CHARGE syndrome.
International Journal of Neuroscience.
ISSN 0020-7454.
doi:
10.1080/00207454.2023.2240485.
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Murray, Janice; Batorowicz, Beata; Deliberato, Débora; Drosopoulou, Christina Sotiropoulou; Launonen, Kaisa & Massaro, Munique
[Vis alle 16 forfattere av denne artikkelen]
(2022).
Reflections on the discussions.
I von Tetzchner, Stephen & Murray, Janice (Red.),
Becoming an Aided Communicator (BAC): Theory, wethods, findings and practical implications. Proceedings of Communication Matters’ Study Day, Leeds, June 21st 2022..
Communication Matters.
ISSN 9781910029824.
s. 51–70.
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Walter, Cátia Crivelenti de Figueiredo; Stadskleiv, Kristine; Murray, Janice & von Tetzchner, Stephen
(2022).
After BAC – Participants' reflections on involvement in research.
I von Tetzchner, Stephen & Murray, Janice (Red.),
Becoming an Aided Communicator (BAC): Theory, wethods, findings and practical implications. Proceedings of Communication Matters’ Study Day, Leeds, June 21st 2022..
Communication Matters.
ISSN 9781910029824.
s. 46–50.
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Batorowicz, Beata; Oxley, Judith D.; Renner, Gregor; Mendes, Elisabete & von Tetzchner, Stephen
(2022).
Communication aids and participation.
I von Tetzchner, Stephen & Murray, Janice (Red.),
Becoming an Aided Communicator (BAC): Theory, wethods, findings and practical implications. Proceedings of Communication Matters’ Study Day, Leeds, June 21st 2022..
Communication Matters.
ISSN 9781910029824.
s. 36–45.
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Smith, Martine M.; Neuvonen, Kirsi; Murray, Janice & von Tetzchner, Stephen
(2022).
Conversations and aided communication.
I von Tetzchner, Stephen & Murray, Janice (Red.),
Becoming an Aided Communicator (BAC): Theory, wethods, findings and practical implications. Proceedings of Communication Matters’ Study Day, Leeds, June 21st 2022..
Communication Matters.
ISSN 9781910029824.
s. 27–35.
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Neuvonen, Kirsi; van Balkom, Hans; Deliberato, Débora & von Tetzchner, Stephen
(2022).
Vocabulary use in aided communication.
I von Tetzchner, Stephen & Murray, Janice (Red.),
Becoming an Aided Communicator (BAC): Theory, wethods, findings and practical implications. Proceedings of Communication Matters’ Study Day, Leeds, June 21st 2022..
Communication Matters.
ISSN 9781910029824.
s. 21–26.
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Stadskleiv, Kristine; van Balkom, Hans & von Tetzchner, Stephen
(2022).
Cognition and assessment.
I von Tetzchner, Stephen & Murray, Janice (Red.),
Becoming an Aided Communicator (BAC): Theory, wethods, findings and practical implications. Proceedings of Communication Matters’ Study Day, Leeds, June 21st 2022..
Communication Matters.
ISSN 9781910029824.
s. 10–20.
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von Tetzchner, Stephen
(2022).
Introduction to BAC: Theory, methods, findings and practical implications.
I von Tetzchner, Stephen & Murray, Janice (Red.),
Becoming an Aided Communicator (BAC): Theory, wethods, findings and practical implications. Proceedings of Communication Matters’ Study Day, Leeds, June 21st 2022..
Communication Matters.
ISSN 9781910029824.
s. 5–8.
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von Tetzchner, Stephen & Simonsen, Eva
(2021).
Tilbudet til barn og ungdommer med tidlig døvblindhet.
Psykologi i kommunen (PIK).
ISSN 1892-3364.
56(4).
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von Tetzchner, Stephen
(2021).
Tiaozhanxing xingwei: guocheng, yufang he ganyu (Challenging behaviors: Processes, prevention and intervention). .
I von Tetzchner, Stephen; Su, Xueyun & XIAO, FEI (Red.),
Ertong zibi puxi zhang’ai de fazhan, pinggu yu ganyu: guoji he zhongguo shijiao (Development, assessment and intervention of autism spectrum disorders in childhood: International and Chinese perspectives).
Guangming Daily Press.
ISSN 978-7-5194-6219-2.
s. 351–375.
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von Tetzchner, Stephen
(2021).
Goutong he yuyan ganyu (Communication and language interventions). .
I von Tetzchner, Stephen; Su, Xueyun & XIAO, FEI (Red.),
Ertong zibi puxi zhang’ai de fazhan, pinggu yu ganyu: guoji he zhongguo shijiao (Development, assessment and intervention of autism spectrum disorders in childhood: International and Chinese perspectives).
Guangming Daily Press.
ISSN 978-7-5194-6219-2.
s. 288–316.
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von Tetzchner, Stephen
(2021).
Zhenduan he pinggu de baogao he fankui (Reports and feedback from diagnosis and assessment). .
I von Tetzchner, Stephen; Su, Xueyun & XIAO, FEI (Red.),
Ertong zibi puxi zhang’ai de fazhan, pinggu yu ganyu: guoji he zhongguo shijiao (Development, assessment and intervention of autism spectrum disorders in childhood: International and Chinese perspectives).
Guangming Daily Press.
ISSN 978-7-5194-6219-2.
s. 156–168.
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von Tetzchner, Stephen & Su, Xueyun
(2021).
Zuo wei yizhong fazhan zhang’ai de zibizheng (Autism as a developmental disorder).
I von Tetzchner, Stephen; Su, Xueyun & XIAO, FEI (Red.),
Ertong zibi puxi zhang’ai de fazhan, pinggu yu ganyu: guoji he zhongguo shijiao (Development, assessment and intervention of autism spectrum disorders in childhood: International and Chinese perspectives).
Guangming Daily Press.
ISSN 978-7-5194-6219-2.
s. 36–50.
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von Tetzchner, Stephen; Su, Xueyun & XIAO, FEI
(2021).
Daolun (Introduction).
I von Tetzchner, Stephen; Su, Xueyun & XIAO, FEI (Red.),
Ertong zibi puxi zhang’ai de fazhan, pinggu yu ganyu: guoji he zhongguo shijiao (Development, assessment and intervention of autism spectrum disorders in childhood: International and Chinese perspectives).
Guangming Daily Press.
ISSN 978-7-5194-6219-2.
s. 1–13.
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von Tetzchner, Stephen
(2020).
Inclusion of children with severe disabilities through shared peer activity.
I Galaguzova, Minnenur Akhmetkhanovna (Red.),
Понятийный аппарат педагогики и образования,Том 12 .
alpha-Print.
ISSN 978-5-7186-1704-7.
s. 108–125.
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von Tetzchner, Stephen
(2020).
Инклюзия детей с тяжелыми формами инвалидности посредством совместной со сверстниками деятельности .
I Galaguzova, Minnenur Akhmetkhanovna (Red.),
Понятийный аппарат педагогики и образования,Том 12 .
alpha-Print.
ISSN 978-5-7186-1704-7.
s. 89–107.
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Henriksen, Mari Wold; Breck, Hilde; Sejersted, Yngve; Diseth, Trond H; von Tetzchner, Stephen & Paus, Benedicte
[Vis alle 7 forfattere av denne artikkelen]
(2020).
Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome.
Brain & development (Tokyo. 1979).
ISSN 0387-7604.
42(7),
s. 484–495.
doi:
10.1016/j.braindev.2020.03.008.
Fulltekst i vitenarkiv
Vis sammendrag
Background and purpose: Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in MECP2. The diagnostic criteria of RTT are clinical; mutations in MECP2 are neither diagnostic nor necessary, and a mutation in another gene does not exclude RTT. We attempted to correlate genotype and phenotype to see if there are significant clinical associations.
Methods: All available females diagnosed with RTT in Norway were invited to the study. Parents were interviewed, the girl or woman with RTT examined and medical records reviewed. All diagnoses were revisited according to the current diagnostic criteria and exome-based sequencing analyses were performed in individuals without an identified causative mutation. Participants were categorized according to genotypes and RTT diagnosis. Individuals with RTT with and without mutations in MECP2 were compared.
Results: Ninety-one individuals were included. A presumed causative mutation was identified in 86 individuals, of these, mutations in MECP2 in 77 individuals and mutations in SMC1A, SYNGAP1, SCN1A, CDKL5, FOXG1 or chromosome 13q in nine. Seventy-two individuals fulfilled the diagnostic criteria for classic and 12 for atypical RTT. Significant differences in early development, loss of hand use and language, intense eye gaze and the presence of early onset epilepsy were revealed in individuals with RTT according to their MECP2 genotypic status.
Conclusion: Using the current diagnostic criteria, genetic and clinical variation in RTT is considerable. Significant differences between individuals with RTT with and without MECP2 mutations indicate that MECP2 is a major determinant for the clinical phenotype in individuals with RTT.
Keywords: Clinical phenotype; Epilepsy; Exome sequencing; Genetic variation; MECP2; Rett syndrome.
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Henriksen, Mari Wold; Breck, Hilde; von Tetzchner, Stephen; Paus, Benedicte & Skjeldal, Ola, Hunsbeth
(2020).
Medical Issues in Adults with Rett Syndrome - A National Survey.
Developmental Neurorehabilitation.
ISSN 1751-8423.
23(2),
s. 106–112.
doi:
10.1080/17518423.2019.1646341.
Vis sammendrag
Objectives: To examine main health issues in a population of females with Rett syndrome, with a focus on individuals aged 36 or older. Methods: A national survey including 85 females, divided into a younger (1-20 years), a middle (21-35 years) and an older group (36-66 years). Data include clinical examination, medical records and parental interviews. Prevalences of six main medical issues (scoliosis, ambulation, growth, respiration, gastrointestinal dysmobility and epilepsy) and severity scores in the three groups were compared. Results: Mean severity scores were 11.8, 15.1 and 13.7 (from younger to older), and the difference between the younger and the middle group was significant. No other major significant prevalence differences were observed. Conclusions: Most main medical issues in Rett syndrome continued to be a major concern in adulthood, but health did not seem to decline with increasing age. The results emphasize the need for clinical follow-up throughout adulthood.
Keywords: Rett syndrome; adulthood; ageing; clinical management; morbidity.
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Simonsen, Eva & von Tetzchner, Stephen
(2019).
Spesialpedagogiske utfordringer.
StatpedMagasinet.
ISSN 1894-0919.
7(3),
s. 31–41.
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von Tetzchner, Stephen
(2019).
Manual signs and graphic symbols as complementary forms of augmentative and alternative communication.
I Grove, Nicola & Launonen, Kaisa (Red.),
Manual sign acquisition in children with developmental disabilities.
Nova Science Publishers.
ISSN 978-1-53615-378-1.
s. 195–212.
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von Tetzchner, Stephen; Lippe-Holstein, Jochen & Haugen, Per Kristian
(2019).
Behavioral and emotional reactions to a difficult life situation.
I von Tetzchner, Stephen; Elmerskog, Bengt Gustav; Tøssebro, Anne-Grethe & Rokne, Svein (Red.),
Juvenile neuronal ceroid lipofuscinosis, childhood dementia and education.
Snøfugl Forlag.
ISSN 978-82-7083-563-8.
s. 519–534.
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von Tetzchner, Stephen; Andersen, Anne Margrethe; Hamann, Anne Hagedorn & Fugger, Susan
(2019).
The social life of children and adolescents with juvenile neuronal ceroid lipofuscinosis: School and participation.
I von Tetzchner, Stephen; Elmerskog, Bengt Gustav; Tøssebro, Anne-Grethe & Rokne, Svein (Red.),
Juvenile neuronal ceroid lipofuscinosis, childhood dementia and education.
Snøfugl Forlag.
ISSN 978-82-7083-563-8.
s. 431–449.
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Elmerskog, Bengt Gustav; von Tetzchner, Stephen; Forssas, Marja-Leena & Eskonen, Tarja
(2019).
Coping with everyday life.
I von Tetzchner, Stephen; Elmerskog, Bengt Gustav; Tøssebro, Anne-Grethe & Rokne, Svein (Red.),
Juvenile neuronal ceroid lipofuscinosis, childhood dementia and education.
Snøfugl Forlag.
ISSN 978-82-7083-563-8.
s. 311–341.
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Tøssebro, Anne-Grethe; von Tetzchner, Stephen; Christal, Anna; McElrone, Deidre; Siggs, Mary & Oxley, Judith D.
[Vis alle 7 forfattere av denne artikkelen]
(2019).
Communication and language in education and intervention for children and adults with juvenile neuronal ceroid lipofuscinosis.
I von Tetzchner, Stephen; Elmerskog, Bengt Gustav; Tøssebro, Anne-Grethe & Rokne, Svein (Red.),
Juvenile neuronal ceroid lipofuscinosis, childhood dementia and education.
Snøfugl Forlag.
ISSN 978-82-7083-563-8.
s. 231–256.
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Tøssebro, Anne-Grethe; von Tetzchner, Stephen; Elmerskog, Bengt Gustav & Murphy, Aine
(2019).
Early and later educational intervention.
I von Tetzchner, Stephen; Elmerskog, Bengt Gustav; Tøssebro, Anne-Grethe & Rokne, Svein (Red.),
Juvenile neuronal ceroid lipofuscinosis, childhood dementia and education.
Snøfugl Forlag.
ISSN 978-82-7083-563-8.
s. 201–229.
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Elmerskog, Bengt Gustav; von Tetzchner, Stephen; Tøssebro, Anne-Grethe & Hesselberg, Finn
(2019).
Planning education and intervention for individuals with juvenile neuronal ceroid lipofuscinosisi.
I von Tetzchner, Stephen; Elmerskog, Bengt Gustav; Tøssebro, Anne-Grethe & Rokne, Svein (Red.),
Juvenile neuronal ceroid lipofuscinosis, childhood dementia and education.
Snøfugl Forlag.
ISSN 978-82-7083-563-8.
s. 179–199.
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von Tetzchner, Stephen; Tøssebro, Anne-Grethe; Adams, Heather; Cole, Barbara & Elmerskog, Bengt Gustav
(2019).
Assessment and evaluation.
I von Tetzchner, Stephen; Elmerskog, Bengt Gustav; Tøssebro, Anne-Grethe & Rokne, Svein (Red.),
Juvenile neuronal ceroid lipofuscinosis, childhood dementia and education.
Snøfugl Forlag.
ISSN 978-82-7083-563-8.
s. 165–177.
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von Tetzchner, Stephen & Hesselberg, Finn
(2019).
Ethical issues related to working with individuals with juvenile neuronal ceroid lipofuscinosis.
I von Tetzchner, Stephen; Elmerskog, Bengt Gustav; Tøssebro, Anne-Grethe & Rokne, Svein (Red.),
Juvenile neuronal ceroid lipofuscinosis, childhood dementia and education.
Snøfugl Forlag.
ISSN 978-82-7083-563-8.
s. 125–137.
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Tøssebro, Anne-Grethe & von Tetzchner, Stephen
(2019).
Language development and attrition in juvenile neuronal ceroid lipofuscinosis.
I von Tetzchner, Stephen; Elmerskog, Bengt Gustav; Tøssebro, Anne-Grethe & Rokne, Svein (Red.),
Juvenile neuronal ceroid lipofuscinosis, childhood dementia and education.
Snøfugl Forlag.
ISSN 978-82-7083-563-8.
s. 93–107.
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Haugen, Per Kristian; von Tetzchner, Stephen; Oxley, Judith D. & Elmerskog, Bengt Gustav
(2019).
Dementia in adulthood and childhood.
I von Tetzchner, Stephen; Elmerskog, Bengt Gustav; Tøssebro, Anne-Grethe & Rokne, Svein (Red.),
Juvenile neuronal ceroid lipofuscinosis, childhood dementia and education.
Snøfugl Forlag.
ISSN 978-82-7083-563-8.
s. 75–92.
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Elmerskog, Bengt Gustav & von Tetzchner, Stephen
(2019).
Development and loss of vision.
I von Tetzchner, Stephen; Elmerskog, Bengt Gustav; Tøssebro, Anne-Grethe & Rokne, Svein (Red.),
Juvenile neuronal ceroid lipofuscinosis, childhood dementia and education.
Snøfugl Forlag.
ISSN 978-82-7083-563-8.
s. 63–73.
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von Tetzchner, Stephen
(2019).
A developmental perspective on juvenile neuronal ceroid lipofuscinosis.
I von Tetzchner, Stephen; Elmerskog, Bengt Gustav; Tøssebro, Anne-Grethe & Rokne, Svein (Red.),
Juvenile neuronal ceroid lipofuscinosis, childhood dementia and education.
Snøfugl Forlag.
ISSN 978-82-7083-563-8.
s. 35-–44.
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von Tetzchner, Stephen; Elmerskog, Bengt Gustav; Tøssebro, Anne-Grethe & Rokne, Svein
(2019).
Introduction.
I von Tetzchner, Stephen; Elmerskog, Bengt Gustav; Tøssebro, Anne-Grethe & Rokne, Svein (Red.),
Juvenile neuronal ceroid lipofuscinosis, childhood dementia and education.
Snøfugl Forlag.
ISSN 978-82-7083-563-8.
s. 23–34.
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von Tetzchner, Stephen
(2018).
Behov for mer kunnskap om ASK.
StatpedMagasinet.
ISSN 1894-0919.
s. 20–25.
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Laeng, Bruno; Færevaag, Fredrik Svartdal; Tanggaard, Stine & von Tetzchner, Stephen
(2018).
Pupillary Responses to Illusions of Brightness in Autism Spectrum Disorder.
i-Perception.
ISSN 2041-6695.
9(3),
s. 1–11.
doi:
10.1177/2041669518771716.
Fulltekst i vitenarkiv
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Murray, Janice; Dahlgren Sandberg, Annika; Smith, Martine M.; Deliberato, Débora; Stadskleiv, Kristine & von Tetzchner, Stephen
(2018).
Communicating the unknown: descriptions of pictured scenes and events presented on video by children and adolescents using aided communication and their peers using natural speech.
Augmentative and Alternative Communication : AAC.
ISSN 0743-4618.
34(1),
s. 30–39.
doi:
10.1080/07434618.2017.1420690.
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Skar, Ane-Marthe Solheim; Sherr, Lorraine; Macedo, Ana; von Tetzchner, Stephen & Fostervold, Knut Inge
(2017).
Evaluation of parenting interventions to prevent violence against children in Colombia - a randomised controlled trial.
Journal of Interpersonal Violence.
ISSN 0886-2605.
36(1-2),
s. 1098–1126.
doi:
10.1177/0886260517736881.
