Behavioural strengths and difficulties in relation to intellectual functions and age in Swedish boys with Duchenne muscular dystrophy

Autor: Jonas Gillenstrand, Anne-Berit Ekström, Anna-Karin Kroksmark, Mar Tulinius, Malin Broberg

Publikováno v: Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

The aim of this study was to describe behavioral strengths and difficulties in relation to intellectual function and age in boys with DMD. In a cross-sectional design, 70 boys with DMD were tested at 5, 8, 11, and 14 years of age (mean age 10y 5 m).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eba0f5f450b43ad8ad5b85b34064addc
https://pubmed.ncbi.nlm.nih.gov/36444135

Daily activity performance in congenital and childhood forms of myotonic dystrophy type 1: a population‐based study

Autor: Marie Peny-Dahlstrand, Anne-Berit Ekström, Britt‐Marie Eriksson

Publikováno v: Developmental Medicine & Child Neurology. 62:723-728

To identify and describe the profile characterizing motor and process skills during daily activity performance in individuals with congenital and childhood forms of myotonic dystrophy type 1 (DM1) and to investigate differences in performance between

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d807be3f349950f7589afa8a459ae17
https://doi.org/10.1111/dmcn.14395

Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1

Autor: Tina Duong, Kiera Berggren, Craig Campbell, Tetsuo Ashizawa, Leah Hellerstein, Chiara Marini-Bettolo, Anne Berit Ekström, Nicholas E. Johnson, Nathalie Angeard, Valeria A. Sansone, Eugenio Zapata Aldana, Cuixia Tian

Publikováno v: Paediatrics Publications
Neurology: Clinical Practice

Purpose of reviewMyotonic dystrophy type 1 is a multisystemic disorder caused by a noncoding triplet repeat. The age of onset is variable across the lifespan, but in its most severe form, the symptoms appear at birth (congenital myotonic dystrophy) o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::095c68871835bfcc1ad0741783dc3da6
https://doi.org/10.1212/cpj.0000000000000646

En kritisk granskning av Oregonmodellen

Autor: Anne-Berit Ekström, Mikaela Luthman

Publikováno v: Dødshjelp i Norden? Etikk, klinikk og politikk

The so-called Oregon model has been described as a more attractive and safer alternative for assisted dying than the controversial euthanasia laws in the Benelux countries. Many advocates of assisted dying believe that the Oregon model, which implies

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::77f97ae4943fad9098dc2b220c2b54eb
https://doi.org/10.23865/noasp.96.ch14

Consensus-based care recommendations for adults with myotonic dystrophy type 1

Autor: Valeria A. Sansone, Marla B. Ferschl, Elisa De Mattia, John W. Day, Anne-Berit Ekström, Gordon F. Tomaselli, James E. Hilbert, Todd Goodglick, Tetsuo Ashizawa, Laurie Gutmann, Ericka Simpson, Nicholas E. Johnson, Linda Nguyen, S. H. Subramony, Laurie Sterling, Nathalie Angeard, Marie Kierkegaard, Belen Esparis, Careniña Trujillo, Baziel G.M. van Engelen, Benedikt Schoser, William J. Groh, Tina Duong, Edith H. C. Cup, Elisabetta Roma, Wilma J. Koopman, Shannon L. Venance, Venessa Holland, Kiera Berggren, Janice L.B. Byrne, Ann Broderick, Guillaume Bassez, Daphne Maas, Saman Nazarian, Kari Lane, Chad Heatwole, Peg Nopoulos, Giovanni Meola, Jacinda B. Sampson, Cuixia Tian, Aparajitha Verma, Louis Richer, Marco Bozzali, Subha Raman, Richard T. Moxley, Jack Puymirat, Shahinaz M. Gadalla, Cynthia Gagnon, Katherine D. Mathews, Stefan Winblad, Katy Eichinger, Craig Campbell, Benjamin Gallais, Jeffrey Statland, Richard E. Petty, David J. Moser, Deepak Bhakta, Shree Pandya, Denis Duboc, Chris Turner, Ami Mankodi, Janel Phetteplace, Darren G. Monckton, Molly White, Bruno Eymard, Mark T. Rogers

Publikováno v: Paediatrics Publications
Neurology. Clinical Practice, 8, 6, pp. 507-520
Neurology: Clinical Practice
Neurology: Clinical Practice, 2018, 8 (6), pp.507-520. ⟨10.1212/CPJ.0000000000000531⟩
Neurology. Clinical Practice, 8, 507-520

Purpose of review: Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aee3d1ad9bb57439767406ba7ad93787
https://ir.lib.uwo.ca/paedpub/202