| 1. |
- Henriksen, M. W., et al.
(författare)
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De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
- 2018
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Ingår i: Bmc Medical Genetics. - : Springer Science and Business Media LLC. - 1471-2350. ; 19
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Tidskriftsartikel (refereegranskat)abstract
- Background: Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of females with classic RTT a pathogenic mutation in MECP2 has been identified. This leaves a small fraction of classic cases with other genetic causes. So far, there has not been reported any other gene that may account for the majority of these cases. Case presentation: We describe two females who fulfill the diagnostic criteria for classic RTT, with pathogenic de novo mutations in SCN1A, which usually leads to Dravet syndrome. The developmental history and clinical features of these two females fits well with RTT, but they do have an unusual epileptic profile with early onset of seizures. Investigation of mRNA from one of the females showed a significantly reduced level of MECP2 mRNA. Conclusions: To our knowledge, this is the first report suggesting that SCN1A mutations could account for a proportion of the females with classic RTT without MECP2 mutations. As a consequence of these findings SCN1A should be considered in the molecular routine screening in MECP2-negative individuals with RTT and early onset epilepsy.
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| 2. |
- Henriksen, M. W., et al.
(författare)
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Epilepsy in classic Rett syndrome: Course and characteristics in adult age
- 2018
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Ingår i: Epilepsy Research. - : Elsevier BV. - 0920-1211. ; 145, s. 134-139
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females. Epilepsy is a major clinical feature, but its long-term course in RTT has not been sufficiently explored. This study addresses the development of the epilepsy in adults with KIT. Methods: Available females diagnosed with RTT in Norway were asked to participate. Parents/caregivers were interviewed, the girls/women were examined and their medical records reviewed. Participants were categorized according to age, epilepsy, seizure patterns and mutation severity groups. RTT severity was assessed (epilepsy score excluded). Results: 70 females with classic RTT were included. A presumed pathogenic mutation in MECP2 was found in 96%. The presence of active epilepsy (seizures last five years) was similar in all age groups above the age of ten: 11 (65%) in adolescents (11-20 years), 9 (60%) in young adults (21-30 years) and 14 (67%) in participants above 30 years of age. Tonic-clonic seizures within the last year were present in 55, 67 and 64%, and >= weekly seizures occurred in 27, 45 and 50% in the respective age groups. Among participants with active epilepsy, 69% had unremitting seizures, whereas 31% had experienced remissions for more than six months during the last five years. In the oldest group ( > 30 years), only 19% had obtained seizure control for > 5 years, and 14% had never experienced seizures. Seizure activity correlated with RTT severity score, whereas the relationship to mutation type remained ambiguous. Conclusion: Epilepsy continues to be a major concern in adults with RTT. Two thirds of women above 30 years of age remained with active epilepsy and 50% of them had seizures at least weekly.
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| 3. |
- Henriksen, M. W., et al.
(författare)
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Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome
- 2020
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Ingår i: Brain & Development. - : Elsevier BV. - 0387-7604. ; 42:7, s. 484-495
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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.
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| 4. |
- Henriksen, M. W., et al.
(författare)
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Medical Issues in Adults with Rett Syndrome–A National Survey
- 2020
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Ingår i: Developmental Neurorehabilitation. - : Informa UK Limited. - 1751-8423 .- 1751-8431. ; 23:2, s. 106-112
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Tidskriftsartikel (refereegranskat)abstract
- 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 (1–20years), a middle (21–35years) and an older group (36–66years). 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. © 2019, © 2019 Taylor & Francis Group, LLC.
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| 5. |
- Stadskleiv, K., et al.
(författare)
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Aided communication, mind understanding and co-construction of meaning
- 2022
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Ingår i: Developmental Neurorehabilitation. - : Informa UK Limited. - 1751-8423 .- 1751-8431. ; 25:8, s. 518-530
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Tidskriftsartikel (refereegranskat)abstract
- Mind understanding allows for the adaptation of expressive language to a listener and is a core element when communicating new information to a communication partner. There is limited knowledge about the relationship between aided language and mind understanding. This study investigates this relationship using a communication task. The participants were 71 aided communicators using graphic symbols or spelling for expression (38/33 girls/boys) and a reference group of 40 speaking children (21/19 girls/boys), aged 5;0-15;11 years. The task was to describe, but not name, drawings to a communication partner. The partner could not see the drawing and had to infer what was depicted from the child's explanation. Dyads with aided communicators solved fewer items than reference dyads (64% vs 93%). The aided spellers presented more precise details than the symbol users (46% vs 38%). In the aided group, number of correct items correlated with verbal comprehension and age.
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| 6. |
- Stadskleiv, K., et al.
(författare)
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Investigating executive functions in children with severe speech and movement disorders using structured tasks
- 2014
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Ingår i: Frontiers in Psychology. - : Frontiers Media SA. - 1664-1078. ; 5:992
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Tidskriftsartikel (refereegranskat)abstract
- Executive functions are the basis for goal-directed activity and include planning, monitoring, and inhibition, and language seems to play a role in the development of these functions. There is a tradition of studying executive function in both typical and atypical populations, and the present study investigates executive functions in children with severe speech and motor impairments who are communicating using communication aids with graphic symbols, letters, and/or words. There are few neuropsychological studies of children in this group and little is known about their cognitive functioning, including executive functions. It was hypothesized that aided communication would tax executive functions more than speech. Twenty-nine children using communication aids and 27 naturally speaking children participated. Structured tasks resembling everyday activities, where the action goals had to be reached through communication with a partner, were used to get information about executive functions. The children (a) directed the partner to perform actions like building a Lego tower from a model the partner could not see and (b) gave information about an object without naming it to a person who had to guess what object it was. The executive functions of planning, monitoring, and impulse control were coded from the children's on-task behavior. Both groups solved most of the tasks correctly, indicating that aided communicators are able to use language to direct another person to do a complex set of actions. Planning and lack of impulsivity was positively related to task success in both groups. The aided group completed significantly fewer tasks, spent longer time and showed more variation in performance than the comparison group. The aided communicators scored lower on planning and showed more impulsivity than the comparison group, while both groups showed an equal degree of monitoring of the work progress. The results are consistent with the hypothesis that aided language tax executive functions more than speech. The results may also indicate that aided communicators have less experience with these kinds of play activities. The findings broaden the perspective on executive functions and have implications for interventions for motor-impaired children developing aided communication.
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