Depressive symptoms among teenagers in the emergency department: prevalence estimate and concordance with parental perceptions.

PURPOSE: This study aims to estimate the prevalence of depressive symptoms among adolescents seen in hospital emergency departments and to investigate the concordance between self-reported adolescent depression and parental perceptions of their adolescents' health status. METHOD: A multicentre cross-sectional survey in three emergency departments receiving adolescents in Ile-de-France took place in 2010. All adolescents completed a questionnaire including the Adolescent Depression Rating Scale (ADRS) and a series of questions concerning somatisation and risk behaviours. Parents simultaneously completed a questionnaire collecting their perceptions of their adolescent's health status. RESULTS: The study included 346 adolescents, and of them, 320 were fully analysed. ADRS scores were in the normal range for 70.6 % of the sample (score of <3) (n=226); 19.4 % (n=62) showed moderate depressive symptoms (3 ≤ score<6), and 10.0 %, severe depressive symptoms (score of ≥ 6) (n=32). We observed a wide discrepancy between adolescent depression, determined by a score on a self-administered scale, and parental perceptions of it. CONCLUSION: Routine use of a self-administered questionnaire in emergency units could enable identification of adolescents with moderate or severe depressive symptoms. The present study confirms the importance of increasing parental awareness of their adolescent children's depressive symptoms.

Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.

Danon disease is an X-linked lysosomal disorder, characterized by hypertrophic cardiomyopathy, skeletal myopathy and mental retardation. We report a family with a novel mutation, in which the mother and her three sons were affected with various clinical presentations. A massive hypertrophy of the left ventricle was the predominant feature in the three male patients, with different degrees of severity of cardiac symptoms, from isolated palpitations to cardiac failure and sudden death. Muscle pain and weakness were also variable, but constantly associated with increased plasma CK levels. Finally, the male patients had variable degree of a mental retardation. The mother had an attenuated phenotype, limited to a mild hypertrophic cardiomyopathy with premature ventricular contractions diagnosed during her 40's. Microscopy examination of skeletal muscle biopsy, performed in the youngest patient, demonstrated atrophic myofibers with intracytoplasmic vacuoles suggesting lysosomal glycogen storage disease. Immunohistochemistry analyses in muscle specimen showed no detectable Lysosomal-Associated Membrane Protein-2 (LAMP-2), in keeping with the diagnosis of Danon disease. However, a very low expression of a shortened LAMP-2 protein could be evidenced by Western-blot in the patient's fibroblasts. Molecular investigations identified a novel splicing mutation (IVS6 + 1delG) in the LAMP-2 gene. This case report highlights the intrafamilial variability of Danon disease phenotype. In this case, morphological examination of muscle biopsy, showing lysosomal storage myopathy, and immunohistochemistry analyses can provide key elements for orienting etiologic investigations.