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Perspectives on hand function in girls and women with Rett syndrome.
Downs J, Parkinson S, Ranelli S, Leonard H, Diener P, Lotan M. Downs J, et al. Dev Neurorehabil. 2014 Jun;17(3):210-7. doi: 10.3109/17518423.2012.758183. Epub 2013 Jul 19. Dev Neurorehabil. 2014. PMID: 23869872 Free article. Review.
Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome. METHODS: We reviewed the literature pertaining to hand function and stereotyp …
Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand …
Participation and engagement in family activities among girls and young women with Rett syndrome living at home with their parents - a cross-sectional study.
Kruse Gyldhof D, Stahlhut M, Waehrens EE. Kruse Gyldhof D, et al. Disabil Rehabil. 2022 Jul;44(14):3650-3660. doi: 10.1080/09638288.2021.1878394. Epub 2021 Feb 23. Disabil Rehabil. 2022. PMID: 33621156 Free article.
PURPOSE: To describe the extent of participation and engagement in family activities and explore variables potentially impacting on these factors in family activities among girls and young women with Rett syndrome (RTT) under the age of 21. MATERIALS A …
PURPOSE: To describe the extent of participation and engagement in family activities and explore variables potentially impacting on these fa …
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.
Kaufmann WE, Percy AK, Neul JL, Downs J, Leonard H, Nues P, Sharma GD, Bartolotta TE, Townend GS, Curfs LMG, Mariotti O, Buda C, O'Leary HM, Oberman LM, Vogel-Farley V, Barnes KV, Missling CU. Kaufmann WE, et al. Orphanet J Rare Dis. 2024 Aug 13;19(1):296. doi: 10.1186/s13023-024-03313-8. Orphanet J Rare Dis. 2024. PMID: 39138481 Free PMC article.
BACKGROUND: Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. ...The questionnaire was administered anonymously online to an international sample of 756 caregivers (predominantly parents) of girl …
BACKGROUND: Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairmen …
Beyond Widespread Mecp2 Deletions to Model Rett Syndrome: Conditional Spatio-Temporal Knockout, Single-Point Mutations and Transgenic Rescue Mice.
Li W, Pozzo-Miller L. Li W, et al. Autism Open Access. 2012;2012(Suppl 1):5. doi: 10.4172/2165-7890.S1-005. Autism Open Access. 2012. PMID: 23946910 Free PMC article.
Rett syndrome (RTT) is one of the leading causes of intellectual disabilities in women. ...In this review, we will briefly discuss current perspectives on MeCP2 function, and then will describe in detail novel mouse models of RTT based on loss-o …
Rett syndrome (RTT) is one of the leading causes of intellectual disabilities in women. ...In this review, we will brie …