[Recent progress in Marfan syndrome]. / Nouveautés dans le syndrome de Marfan.

For 20 years, the clinical, genetic and therapeutic knowledge of Marfan syndrome made great progress. The new classification, allowing the diagnosis and published in 2010, is easier to use. The diagnosis remains sometimes difficult particularly during childhood, because of the great variability of expression of the disease, from neonatal Marfan syndrome, to a weak clinical expression and especially because of the evolution of the signs with the age, which no classification takes into account. The search for amutation in the FBN1 gene is long and expensive and must be reserved only for patients having a very strong diagnostic suspicion. The therapeutics is preventive and based on patient education, limitation of the sport, beta blockade therapy, regular echocardiography as well as aorta replacement. New treatments are at present on approval but did not make the proof of their efficiency. The global care of the patient, by taking into account difficulties about genetic origin of the disease, aesthetic and psychological consequences, allows an improvement of the quality of life.

Quality-of-life, mood and executive functioning after childhood craniopharyngioma treated with surgery and proton beam therapy.

PRIMARY OBJECTIVE: Childhood craniopharyngioma, a benign tumour with a good survival rate, is associated with important neurocognitive and psychological morbidity, reducing quality-of-life (QoL). METHOD: This retrospective study analysed QoL, mood disorders, everyday executive functioning and disease's impact on family life in 29 patients (mean age at diagnosis 7 years 10 months (SD = 4.1); mean follow-up period 6 years 2 months (SD = 4.5)) treated for childhood craniopharyngioma by surgery combined with radiotherapy using proton beam. Assessment included a semi-structured interview and standardized scales evaluating self-report of QoL (Kidscreen 52) and depression (MDI-C) and proxy-reports of QoL (Kidscreen 52), executive functioning (BRIEF) and disease's impact (Hoare and Russel Questionnaire). RESULTS: Twenty-three families answered the questionnaires completely. Overall QoL self-report was within the normal range. QoL proxy-report was lower than self-report. Eleven patients reported depression; 24-38% had dysexecutive symptoms. A majority of families felt 'very concerned' by the disease. Depression and low parental educational level were associated with lower QoL and higher levels of executive dysfunction. CONCLUSION: Given the high morbidity of childhood craniopharyngioma, screening for psychosocial outcome, cognitive functioning, including executive functions, mood and QoL should be systematic and specific interventions should be developed and implemented.