| 1. |
- Larsson, Gunilla, 1944-, et al.
(författare)
-
Gross motor ability in Rett syndrome : the power of expectation, motivation and planning
- 2001
-
Ingår i: Brain & development (Tokyo. 1979). - 0387-7604 .- 1872-7131. ; 23:Suppl. 1, s. S77-S81
-
Tidskriftsartikel (refereegranskat)abstract
- A main task for the physiotherapist at the Swedish Rett Center is to document and report successful treatment. This report shows the possibility to regain function, get variation and avoid contractures for several years. A thorough neurologic, orthopaedic and physiotherapeutic assessment and analysis is essential. We stress the importance of keeping the feet in good position, using surgery and well fitting orthoses when needed, making standing possible and for some persons, walking. For the effect of treatment the following factors were of vital importance: the expectations of the persons treating the girl/woman – what they believed she could do, the motivation of the girl/woman herself, a joint plan for intervention including everyone involved, and well educated personnel, well informed about Rett syndrome – its problems and possibilities.
|
|
| 2. |
- Aoki, Sayaka, et al.
(författare)
-
Development of a new screening tool for neuromotor development in children aged two - the neuromotor 5min exam 2-year-old version (N5E2).
- 2018
-
Ingår i: Brain & development. - : Elsevier BV. - 1872-7131 .- 0387-7604. ; 40:6, s. 445-451
-
Tidskriftsartikel (refereegranskat)abstract
- As a new screening tool for neuromotor development in children aged two, we developed the Neuromotor 5min Exam 2-year-old version (N5E2), which can be easily administered by pediatricians or primary care physicians. In this study, as an initial attempt to examine the utility of the N5E2, the inter-rater reliability on scoring for the individual items in this scale was assessed.The participants of the study were 29 children (aged 1-5years, mean age=2.79) diagnosed with a variety of neuromotor/developmental disorders/high-risk conditions. Inter-rater reliability was examined on the following 11 items in the N5E2: (1) Retrieving a rolling ball, (2) Gait, (3) Toe-walking, (4) Asymmetries of posture and/or movement, (5) Age at unsupported walking, (6) Speaking in two-word understandable sentences, (7) Hypotonus, (8) Hypertonus, (9) Eye movement, (10) Vision problem, (11) Hearing problem. The items were administered to children by two pediatricians with different expertise and clinical experience, separately.The results showed that among the eleven items in the N5E2 examined, a high level of agreement (κ≥0.60) was found on 4 items, and a moderate level of agreement (0.40≤κ<0.60) was found on 5 items. The level of agreement somewhat improved after the dichotomization of the score; using this format, a high level of rater agreement (κ≥0.60) was found on 6 out of 11 items. The analyses also revealed high inter-rater reliability on the sum score of the 11 items (r=0.84).The results suggest the possibility that this brief screening tool could be feasible in settings where clinicians' experience varies, based on its inter-rater reliability on individual items between the clinicians with different expertise and amount of clinical experiences.
|
|
| 3. |
|
|
| 4. |
- Hagberg, G, et al.
(författare)
-
Head growth in Rett syndrome
- 2001
-
Ingår i: Brain & development. - : Elsevier BV. - 0387-7604. ; 2323 Suppl 1, s. S227-S229
-
Tidskriftsartikel (refereegranskat)
|
|
| 5. |
|
|
| 6. |
|
|
| 7. |
- Henriksen, M. W., et al.
(författare)
-
Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome
- 2020
-
Ingår i: Brain & Development. - : Elsevier BV. - 0387-7604. ; 42:7, s. 484-495
-
Tidskriftsartikel (refereegranskat)abstract
- 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. (C) 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
|
|
