Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.

BACKGROUND/AIMS: Unverricht-Lundborg disease (EPM1) is caused by mutations in the cystatin B (CSTB) gene. Most patients are homozygous for the expanded dodecamer repeat mutation alleles, but 9 other EPM1-associated mutations have also been identified. We describe the clinical, cognitive and imaging characteristics of 5 Finnish EPM1 patients who are compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutations. METHODS: Five compound heterozygous patients and 21 patients homozygous for the expansion mutation, participating in an ongoing nationwide clinical and molecular genetics study, were evaluated using the Unified Myoclonus Rating Scale test and comprehensive neuropsychological testing. All patients underwent MR imaging. The MR data were also compared with those of 24 healthy control subjects. RESULTS: Age at onset of symptoms was significantly lower in the compound heterozygotes than in the homozygous EPM1 patients. They also had severer myoclonus and drug-resistant tonic-clonic seizures. Moreover, they had lower cognitive performance. In MRI a voxel-based morphometry analysis of primary and premotor cortex, supplementary motor cortex and thalami revealed gray matter volume loss when compared with the healthy controls, similar to patients homozygous for the expansion mutation. CONCLUSION: Patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutations seem to have a severer form of EPM1 than patients homozygous for the expansion mutation. These findings have implications for counseling of EPM1 patients with different genetic defects.

Profiles of functioning of children with cerebral palsy in Finland: analysis of multi-professional family meetings.

PURPOSE: To explore what aspects of and how the child's functioning are discussed during a multi-professional team meeting when planning goals and interventions for rehabilitation. MATERIALS AND METHODS: Multiprofessional rehabilitation meetings were videotaped, the discussions transcribed and all content related to the child's function was linked to the International Classification of Functioning, Disability and Health comprehensive Core Set for children with cerebral palsy. RESULTS: Thirteen families gave their informed consent to participate. In nine meetings the child was present and one or two parents attended all meetings. The mean age of the children was 10 years (3-17 years). Functioning was described as wide-ranging and covered most components of the International Classification of Functioning, Disability and Health. Body structures were mentioned rarely, and of body functions, musculoskeletal functions were most commonly discussed. The focus was on activities and participation, the most discussed aspects being learning, applying knowledge and mobility. CONCLUSIONS: The results showed that both children and their parents were involved when rehabilitation was planned. The comprehensive ICF Core Set for children and young people with CP was in this study used to analyze the areas of functioning discussed, but could also be useful in clinical practice to identify relevant areas of functioning.IMPLICATIONS FOR REHABILITATIONIdentifying areas of functioning facilitate communication among families and multi-disciplinary professionals during rehabilitation team meetings.Important areas of participation are overlooked during intervention planning meetings, which could be improved using ICF-based tools.The comprehensive ICF Core Set for cerebral palsy is a useful framework to identify areas of functioning in Finland.

Quality of life of Finnish children with cerebral palsy.

PURPOSE: The aim of this study was to examine the quality of life (QOL) of Finnish children with cerebral palsy (CP) in different parts of Finland from the children's and caregivers' perspectives. The acceptability of the Finnish version of the CP QOL-Child questionnaire for clinical use is also evaluated. METHOD: This study was conducted in 2010-2013 as a part of the national CP-project. It is based on validated CP QOL-Child questionnaires. Children between 9 and 12 years were asked to fill in the child-self-report version. Caregivers who had a 4- to 12-year-old child with CP filled in parent-proxy reports. RESULTS: Responses were obtained from 63 children and 161 caregivers. The response rates were 63 and 60%, respectively. Overall QOL was reported to be fairly good with no significant regional differences within Finland. Children reported significantly higher QOL in all QOL-domains except "social wellbeing and acceptance" than their caregivers did. The results showed acceptable levels of internal consistency of the Finnish version of the CP QOL-Child. CONCLUSIONS: QOL of children with CP is quite good in Finland. However, barriers to participation and the impact of disability and pain impair QOL. The Finnish version of the CP QOL-Child questionnaire is an appropriate clinical tool to assess QOL. IMPLICATIONS FOR REHABILITATION: The used questionnaire provides an effective tool to identify areas for targeting support actions and to set goals for rehabilitation plans. The study brings forward the voices of children. It was found that pain has a great role in QOL, which should be taken into account when making rehabilitation plans. The participation of children with CP should be strengthened in every possible ways.