Morgendagen har nye muligheter : en evalueringsundersøkelse av Ungdom mot Volds arbeid med straffedømt ungdom

Denne undersøkelsen er en kvalitativ evaluering av Ungdom mot Vold som soningstiltak for ungdom idømt samfunnsstraff. Ungdom mot Vold ønsker å støtte de domfelte i å mestre et liv uten kriminalitet gjennom å fokusere på deres positive utviklingspotensialer. Hensikten med undersøkelsen er å bidra med en systematisk vurdering av Ungdom mot Vold og deres arbeidsmetode Kognitiv Atferdsmestring i Praksis. Hva er kjennetegnene ved Ungdom mot Vold? Skjer det en positiv utvikling hos den enkelte domfelte i retning av å være en ansvarlig og lovlydig samfunnsborger i løpet av soningsperioden? Innfallsvinkelen i denne evalueringen er begrepene mulige selv (Markus & Nurius, 1986) og positiv ungdomsutvikling (Damon, 2004). Ungdommene intervjues når de begynner og igjen en tid ut i soningen. Ingen av ungdommene avbrøt soningen. Resultatene viser også at de domfelte i soningsperioden har tilegnet seg kunnskap som er relevant for bedre å mestre voksenlivet, og de endrer seg i en mer positiv retning i soningsperioden. Ungdommen er særlig opptatt av at de hele tiden i Ungom mot Vold inngår i en respektfull relasjon der deres egne behov og situasjon blir sett og tatt hensyn til. En slik empatisk relasjon oppleves som avgjørende for det å ta et nytt grep på livet sitt

Epilepsy in classic Rett syndrome: Course and characteristics in adult age

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 RTT. 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

Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome

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. Keywords: Clinical phenotype; Epilepsy; Exome sequencing; Genetic variation; MECP2; Rett syndrome