Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.

Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as mainly of relevance to pediatricians. Based on an increasing number of case studies it has become obvious that a significant number of UCD patients are affected by their disease in a non-classical way: presenting outside the newborn period, following a mild course, presenting with unusual clinical features, or asymptomatic patients with only biochemical signs of a UCD. These patients are surviving into adolescence and adulthood, rendering this group of diseases clinically relevant to adult physicians as well as pediatricians. In preparation for an international workshop we collected data on all patients with non-classical UCDs treated by the participants in 20 European metabolic centres. Information was collected on a cohort of 208 patients 50% of which were ≥ 16 years old. The largest subgroup (121 patients) had X-linked ornithine transcarbamylase deficiency (OTCD) of whom 83 were female and 29% of these were asymptomatic. In index patients, there was a mean delay from first symptoms to diagnosis of 1.6 years. Cognitive impairment was present in 36% of all patients including female OTCD patients (in 31%) and those 41 patients identified presymptomatically following positive newborn screening (in 12%). In conclusion, UCD patients with non-classical clinical presentations require the interest and care of adult physicians and have a high risk of neurological complications. To improve the outcome of UCDs, a greater awareness by health professionals of the importance of hyperammonemia and UCDs, and ultimately avoidance of the still long delay to correctly diagnose the patients, is crucial.

Prise en charge d'adolescents souffrant d'anorexie mentale: le rôle des parents, une approche basée sur l'évidence [Adolescents with an eating disorder: an evidence-based approach on the role of parents].

L'adolescence est une période de grands changements et de ce fait potentiellement de grande vulnérabilité. Ainsi, les bouleversements physiques et psychiques induits par les processus pubertaires sont un terrain propice à l'émergence d'un trouble des conduites alimentaires (TCA). La thérapie familiale selon Maudsley, ou family based treatment (FBT), a émergé en parallèle aux avancées neurobiologiques, qui confirment une origine multifactorielle des troubles du comportement alimentaire. Cette thérapie replace les parents au centre de la prise en charge des adolescents souffrant d'un TCA avec comme grand atout, une approche basée sur l'évidence scientifique. Adolescence is a time of great change and therefore, potentially of great vulnerability. Thus, physical and psychological changes induced by pubertal processes are fertile ground for the emergence of an eating disorder (ED). Family therapy according to Maudsley or "family based treatment" (FBT) has emerged in parallel with neurobiological advances confirming a multifactorial origin of eating disorders. This therapy places parents at the centre of care for adolescents with EDs. Its great asset is the evidence-based approach underpinning the therapy.

Blood pressure and cognitive function: a prospective analysis among adolescents in Seychelles.

OBJECTIVE: An inverse relationship between blood pressure (BP) and cognitive function has been found in adults, but limited data are available in adolescents and young adults. We examined the prospective relation between BP and cognitive function in adolescence. METHODS: We examined the association between BP measured at the ages of 12-15 years in school surveys and cognitive endpoints measured in the Seychelles Child Development Study at ages 17 (n = 407) and 19 (n = 429) years, respectively. We evaluated multiple domains of cognition based on subtests of the Cambridge Neurological Test Automated Battery (CANTAB), the Woodcock Johnson Test of Scholastic Achievement (WJTA), the Finger Tapping test (FT) and the Kaufman Brief Intelligence Test (K-BIT). We used age, sex and height-specific z-scores of SBP, DBP and mean arterial pressure (MAP). RESULTS: Six out of the 21 cognitive endpoints tested were associated with BP. However, none of these associations were found to hold for both males and females or for different subtests within the same neurodevelopmental domain or for both SBP and DBP. Most of these associations disappeared when analyses were adjusted for selected potential confounding factors such as socio-economic status, birth weight, gestational age, BMI, alcohol consumption, blood glucose, and total n-3 and n-6 polyunsaturated fats. CONCLUSIONS: Our findings do not support a consistent association between BP and subsequent performance on tests assessing various cognitive domains in adolescents.

Les émotions, bien connaître les siennes pour mieux gérer les leurs

L'adolescence est une période de modification profonde du vécu émotionnel, tant sur le plan qualitatif que quantitatif. La pathologie mentale vient, de plus, compliquer le processus de gestion des émotions, dans les excès ou les débordements; du côté des agirs, ou des manques, du côté de l'abrasion des affects ou de l'alexithymie. Les mouvements émotionnels suscités chez les saignants par les adolescents en souffrance sont colorés des mêmes excès. Pouvoir les reconnaître, les accepter et les gérer de manière souple et modulée nous offre de précieuses informations sur ce que vivent nos patients et leur permet de le percevoir et de mesurer leurs effets à travers un miroir et ainsi percevoir une part de leur fonctionnement. Cette capacité saignante a des vertus pare-excitantes et constitue un modèle de gestion des émotions que nos patients adolescents peuvent intégrer. Des ateliers prenant en compte la gestion des émotions complètent ce travail ardu du soignant qui mobilise son énergie et vield se questionner au plus près de ce qu'il vit et ressent dans sa fonction.

From controlling to letting go : what are the psychosocial needs of parents of adolescents with a chronic illness?

While one of the main objectives of adolescence is to achieve autonomy, for the specific population of adolescents with a chronic illness (CI), the struggle for autonomy is accentuated by the limits implied by their illness. However, little is known concerning the way their parents manage and cope with their children's autonomy acquisition. Our aim was to identify the needs and preoccupations of parents of adolescents with CI in coping with their children's autonomy acquisition and to determine whether mothers and fathers coped differently. Using a qualitative approach, 30 parents of adolescents with CI participated in five focus groups. Recruitment took place in five specialized pediatric clinics from our university hospital. Thematic analysis was conducted. Transcript analyses suggested four major categories of preoccupations, those regarding autonomy acquisition, giving or taking on autonomy, shared management of treatment and child's future. Some aspects implied differences between mothers' and fathers' viewpoints and ways of experiencing this period of life. Letting go can be hard for the father, mother, adolescent or all three. Helping one or the other can in turn improve family functioning as a whole. Reported findings may help health professionals better assist parents in managing their child's acquisition of autonomy.

Etat des lieux de la prise en charge de l'adolescente enceinte dans les hôpitaux suisses

Introduction :¦Une grossesse chez l'adolescente est définie selon l'Office Fédéral de la Statistique (OFS) comme une grossesse survenant avant l'âge de 20 ans. Dans notre étude, nous avons choisi d'étudier plus particulièrement les grossesses d'adolescentes de moins de 18 ans, l'âge de la majorité civile étant fixé à 18 ans selon le Code pénal suisse. En Suisse, en 2009, ont eu lieu 647 naissances d'enfants de mères de moins de 20 ans (OFS). Plus rares sont les naissances de mères de moins de 18 ans ; entre 2005 et 2009, elles étaient 461 à donner naissance(OFS). Dans la littérature, la controverse est grande au sujet d'un éventuel risque augmenté de complications obstétricales et néonatales lors de grossesses à l'adolescence. Des programmes adaptés à la¦Prise en charge de l'adolescente enceinte ont été mis en place dans de nombreux pays et ont démontré des bénéfices par l'amélioration des perspectives sociales, éducationnelles et médicales de ces jeunes filles.¦But de l'étude :¦Cette recherche se divise en trois parties dont les objectifs sont bien distincts :¦I. Analyse Statistique des données suisses du point de vue médical et psychosocial concernant les grossesses et les accouchements chez les adolescentes.¦II. Identifier La présence en Suisse De spécialistes et/ou de programmes spécifiques pour la prise en charge de l'adolescente enceinte.¦III. Explorer En parallèle le vécu individuel par rapport au suivi de grossesse d'une jeune fille concernée.¦Méthode:¦I. Analyse Statistique des données de l'Association des Cliniques De Gynécologie-ˇ‐Obstétrique Suisse (AGOS).¦II. Envoi De questionnaires via programme LimeSurvey A 85 professionnels en Suisse, Répartis selon quatre corps de métiers: médecins cadre en gynécologie-ˇ‐obstétrique sans formation spécifique relative à l'adolescente, médecin gynécologue-ˇ‐obstétricien ayant une formation spécifique en gynécologie de l'adolescente, sages-°©‐femmes, assistantes sociales (taux de réponses: 63%, n=54).¦III. Entretien Structuré avec une jeune femme ayant accouché avant l'âge de 18 ans.¦Résultats:¦I.Selon Les données de l'Association des Cliniques De Gynécologie-ˇ‐Obstétrique Suisse, Il n'y a pas d'augmentation significative des complications obstétricales et néonatales lors de grossesses chez les adolescentes. Toutefois, Les différences se situent plutôt sur le plan des dépendances aux substances et des issues psychosociales des grossesses.¦II. Une part importante des adolescentes enceintes est prise en charge par des professionnels non spécifiquement formés en médecine de l'adolescence. Malgré cela, nous constatons une volonté générale de porter une attention particulière à ces grossesses avec la mise en place d'une prise en charge individualisée. De plus, le suivi est le plus souvent multidisciplinaire. La Plupart des professionnels non spécifiquement formés prenant en charge ces patientes pensent que les structures non spécialisées actuelles suffisent. En Suisse, Les principaux obstacles au développement de structures spécifiques sont le petit nombre de patientes potentielles et les faibles moyens financiers à disposition pour de tels projets.¦III. Organiser Les rencontres avec les adolescentes s'est avéré difficile, plusieurs adolescentes ne s'étant pas présentées aux rendez‐vous convenus malgré un consentement initial spontané. L'unique Adolescente qui a finalement pu être interviewée a bénéficié d'une prise en charge multidisciplinaire, principalement au CHUV. Questionnée Sur le regard qu'elle portait sur le suivi, elle s'est dite satisfaite tout en souhaitant que plus d'attention soit accordée à ses désirs. Cependant, La nécessité de protéger l'enfant est souvent un facteur limitant l'accès aux demandes des adolescentes.

Cannabis dependence in Swiss adolescents: An exploration of the role of anxiety, coping styles and psychosocial difficulties

This naturalistic cross-sectional study explores how and to what extent cannabis dependence was associated with intrapersonal aspects (anxiety, coping styles) and interpersonal aspects of adolescent functioning (school status, family relationships, peer relationships, social life). A convenience sample of 110 adolescents (aged 12 to 19) was recruited and subdivided into two groups (38 with a cannabis dependence and 72 nondependent) according to DSM-IV-TR criteria for cannabis dependence. Participants completed the State-Trait Anxiety Inventory (STAI-Y), the Coping Across Situations Questionnaire (CASQ), and the Adolescent Drug Abuse Diagnosis (ADAD) interview investigating psychosocial and interpersonal problems in an adolescent's life. Factors associated with cannabis dependence were explored with logistic regression analyses. The results indicated that severity of problems in social life and peer relationships (OR = 1.68, 95% CI = 1.21 - 2.33) and avoidantcoping (OR = 4.22, 95% CI = 1.01 - 17.73) were the only discriminatory factors for cannabis dependence. This model correctly classified 84.5% of the adolescents. These findings are partially consistent with the "self-medication hypothesis" and underlined the importance of peer relationships and dysfunctional coping strategies in cannabis dependence in adolescence. Limitations of the study and implications for clinical work with adolescents are discussed.

Being Drunk to Have Fun or to Forget Problems? Identifying Enhancement and Coping Drinkers Among Risky Drinking Adolescents

Prevention programs in adolescence are particularly effective if they target homogeneous risk groups of adolescents who share a combination of particular needs and problems. The present work aims to identify and classify risky single-occasion drinking (RSOD) adolescents according to their motivation to engage in drinking. An easy-to-use coding procedure was developed. It was validated by means of cluster analyses and structural equation modeling based on two randomly selected subsamples of a nationally representative sample of 2,449 12- to 18-year-old RSOD students in Switzerland. Results revealed that the coding procedure classified RSOD adolescents as either enhancement drinkers or coping drinkers. The high concordance (Sample A: kappa - .88, Sample B: kappa - .90) with the results of the cluster analyses demonstrated the convergent validity of the coding classification. The fact that enhancement drinkers in both subsamples were found to go out more frequently in the evenings and to have more satisfactory social relationships, as well as a higher proportion of drinking peers and a lower likelihood to drink at home than coping drinkers demonstrates the concurrent validity of the classification. To conclude, the coding procedure appears to be a valid, reliable, and easy-to-use tool that can help better adapt prevention activities to adolescent risky drinking motives.

Frequency and effects of meeting health-behavior guidelines among adolescents

Objective: To assess the relationship between overweight status and the concomitant adherence to physical activity, daily screen time, and nutritional guidelines. Methods: Data were derived from the Swiss HBSC survey 2006. Participants (n=8130, 48.7% girls) were divided into two groups: normal-weight (n=7215, 44.8% girls), and overweight (n=915, 34.8% girls), using self-reported height and weight. Groups were compared on adherence to physical activity, screen time and nutritional guidelines. Bivariate analyses were carried out followed by multivariate analyses using normal-weight individuals as the reference category. Results: Regardless of gender, overweight individuals reported more screen time, less physical activity, and less concomitant adherence to guidelines. For boys, the multivariate analysis showed that any amount exceeding screen time recommendations was associated with increased odds of being overweight (>2-4h: adjusted odds ratio (AOR)=l .40; >4-6h: AOR=l .48; >6h: AOR=l .83). A similar relation was found for any amount below physical activity recommendations (4-6 times a week: AOR=1.67; 2-3 times a week: AOR=1.87; once a week or less: AOR=2.1). For girls, not meeting nutritional guidelines was less likely among overweight individuals (0-2 recommendations: AOR=0.54). Regardless of weight status, more than half of adolescents did not comply with any guideline and less than 2% met all 3 at the same time. Conclusions: Meeting current nutritional, physical activity and screen time guidelines should be encouraged with respect to overweight. However, as extremely low rates of concomitant adherence were found regardless of weight status, their achievability is questionable (especially for nutrition) which warrants further research to better adapt them to adolescents.

Acute coronary syndromes in young patients: presentation, treatment and outcome.

BACKGROUND: Acute coronary syndromes (ACS) in very young patients have been poorly described. We therefore evaluate ACS in patients aged 35 years and younger. METHODS: In this prospective cohort study, 76 hospitals treating ACS in Switzerland enrolled 28,778 patients with ACS between January 1, 1997, and October 1, 2008. ACS definition included ST-segment elevation myocardial infarction (STEMI), non-ST-segment elevation myocardial infarction (NSTEMI), and unstable angina (UA). RESULTS: 195 patients (0.7%) were 35 years old or younger. Compared to patients>35 years, these patients were more likely to present with chest pain (91.6% vs. 83.7%; P=0.003) and less likely to have heart failure (Killip class II to IV in 5.2% vs. 23.0%; P<0.001). STEMI was more prevalent in younger than in older patients (73.1% vs. 58.3%; P<0.001). Smoking, family history of CAD, and/or dyslipidemia were important cardiovascular risk factors in young patients (prevalence 77.2%, 55.0%, and 44.0%). The prevalence of overweight among young patients with ACS was high (57.8%). Cocaine abuse was associated with ACS in some young patients. Compared to older patients, young patients were more likely to receive early percutaneous coronary interventions and had better outcome with fewer major adverse cardiac events. CONCLUSIONS: Young patients with ACS differed from older patients in that the younger often presented with STEMI, received early aggressive treatment, and had favourable outcomes. Primary prevention of smoking, dyslipidemia and overweight should be more aggressively promoted in adolescence.

Blood pressure and cognitive function: a prospective analysis among adolescents in Seychelles

Objective: An inverse relationship between blood pressure and cognitive function has been found in adults, but limited data are available in adolescents and young adults. We prospectively examined the relation between blood pressure and cognitive function in adolescence. Methods: We examined the association between BP measured at the ages of 12-15 years in school surveys and cognitive endpoints measured in the Seychelles Child Development Study at ages 17 (n=407) and 19 (n=429) years respectively. We evaluated multiple domains of cognition based on subtests of the Cambridge Neurological Test Automated Battery (CANTAB), the Woodcock Johnson Test of Scholastic Achievement (WJTA), the Finger Tapping test (FT) and the Kaufman Brief Intelligence Test (K-BIT). We used age-, sex- and height-specific z-scores of systolic blood pressure (SBP), diastolic blood pressure (DBP) and mean arterial pressure (MAP). Results: Six out of the 21 cognitive endpoints tested were associated with BP. However, none of these associations were found to hold for both males and females or for different subtests within the same neurodevelopmental domain or for both SBP and DBP. Most of these associations disappeared when analyses were adjusted for selected potential confounding factors such as socio-economic status, birth weight, gestational age, body mass index, alcohol consumption, blood glucose, and total n-3 and n-6 polyunsaturated fats. Conclusions: Our findings do not support a consistent association between BP and subsequent performance on tests assessing various cognitive domains in adolescents.

Neck Pain in Adolescent Headache Sufferers. A Cohort Study of Schoolchildren

Although neck pain (NP) and headache (HA) are often concomitant in adolescents, few data exist on the association of NP with HA in this age group. The aim of the study was to examine the association of concomitant NP with adolescent HA and with the outcome of HA. The associations of self-reported NP, physical findings of the neck and disc degeneration of the cervical spine with adolescent HA were studied. This study is part of a population-based follow-up study of 12-year-old children (N 1135/1409) with and without HA. A sample of adolescents (N = 304) was followed to the age of 16 years. At the age of 17 years, 69 of them participated in a magnetic resonance imaging (MRI) study of the cervical spine. During the follow-up from 13 to 16 years of age, changes in both HA type and frequency were common. A poor outcome of HA was associated with NP interfering with daily activities at the age of 13 years. The changes in HA type were not predictable by NP. At the age of 16 years, local and referred palpation pain of the neck muscles, self-reported NP and NP intensity were associated with HA, and especially with disturbing HA unresponsive to analgesics. The association of NP with HA was not determined by HA type. Mild degenerative changes of the cervical spine were common but did not contribute to headache. HA in adolescence is often episodic, and prevention and treatment of NP could be important in the prevention of future chronic adult HA.

Jeune dans sa tête. Une histoire critique du cerveau adolescent

Les recherches visant à élucider les bases neurales de l'adolescence ont émergé au cours des années 1990 pour s'imposer cette dernière décennie. Il est aujourd'hui accepté dans le champ des neurosciences cognitives et du développement que le cerveau continue à se développer après la 10eme année de vie et qu'il atteint un stade de maturation similaire à l'adulte seulement vers 25 ans. La configuration structurelle et fonctionnelle du cerveau spécifique à la période de l'adolescence impliquerait un manque de contrôle émotionnel, favorisant des comportements dits de prise de risques qui à la fois permettent l'acquisition de l'indépendance et provoquent des situations de mise en danger du jeune individu et de son entourage. Ses mêmes comportements, dans leur acception négative - consommation d'alcool et de stupéfiants, conduite en état d'ivresse, rapports sexuels non-protégés, port d'arme, etc. - mobilisent les politiques de prévention et de santé publique relatives à l'adolescence et à la jeunesse. Cette thèse qui retrace l'histoire du cerveau adolescent de la fin des années 1950 à nos jours se situe à l'intersection de ces deux thèmes d'intérêt scientifique et public. A partir d'une perspective d'histoire culturelle et sociale des sciences, elle approche les éléments expérimentaux, institutionnels et contextuels qui ont contribué à la construction d'une adolescence définie par son immaturité cérébrale, associée à des comportements dits à risque. Plus précisément, elle met en évidence, sous l'angle privilégié du genre, selon quelles modalités et quelles temporalités l'histoire des recherches scientifiques sur le développement cérébral humain à l'adolescence et celle du façonnage d'un type d'adolescent-e impulsif/ve et preneur/euse de risques - c'est-à-dire potentiellement délinquant, dépendant, invalide ou malade chronique, constitué en problème de politique et de santé publique - sont amenées à converger. L'argument développé est que le genre et le sexe sont des catégories actives dans la construction d'un cerveau adolescent idéalement unisexe. En d'autres termes, bien que le cerveau adolescent qualifie des individus en regard de leur âge, sans distinction apparente de sexe et de genre, les conditions de sa production et les critères de sa définition sont constitutivement genrés, notamment par des comportements à risque qui concernent une majorité de garçons. Il s'agit d'analyser comment du sexe et du genre peuvent produire de l'âge, a priori unisexe, et d'interroger les enjeux scientifiques, sociaux et politiques qui participent de cette invisibilisation des catégories de sexe et de genre. Le but est de considérer la manière dont l'adolescence cérébrale reconfigure la gestion des questions liées à l'adolescence et à la jeunesse, en termes de problèmes sanitaires et de délinquance, mais aussi en termes de reproduction des normes sociales, de ce qu'implique devenir un homme ou une femme.

Quand la pornographie fait violence... réflexions sur les méfaits de la pornographie sur la construction de la sexualité adolescente

Dans notre pratique auprès des adolescents engagés dans des agirs sexuels violents, la consommation de pornographie est fréquemment convoquée dans le parcours de ces sujets à la découverte de la sexualité. Si bien sûr, tous les adolescents qui visionnent ces images ne commettent pas de tels actes, ce constat préoccupant nous invite à nous interroger sur les effets ou plutôt les méfaits de la pornographie sur l'investissement du corps sexué et sur la construction de la sexualité. Outre une réflexion sur l'impact de l'image dans son caractère obscène et à la suite des travaux de G. Bonnet (2003, Le Défi à la pudeur. Quand la pornographie devient l'initiation sexuelle des jeunes), nous montrerons en quoi la pornographie constitue une forme de violence, parfois jusqu'au traumatisme. Ce danger auquel les adolescents sont (sur)exposés, notamment par le biais d'Internet, pourrait en effet favoriser un clivage (que nous retrouvons systématiquement dans la problématique des violences sexuelles) entre corps érotique et corps sexué. La consommation de pornographie s'apparenterait davantage à l'incorporation de la sexualité génitale marquant ainsi l'échec de l'introjection de la génitalité au moment de l'adolescence. Ne devient-elle pas alors un ersatz de la pulsion de mort ? en tant qu'elle isole le sujet dans une activité auto-pseudo-érotique, retirant à la sexualité sa fonction de lien et par là même ouvrant le champ au déchaînement de toutes formes de violence.

Testing new identity models and processes in French-speaking adolescents and emerging adults students

Developing a sense of identity is a crucial psychosocial task for young people. The purpose of this study was to evaluate identity development in French-speaking adolescents and emerging adults (in France and Switzerland) using a process-oriented model of identity formation including five dimensions (i.e., exploration in breadth, commitment making, exploration in depth, identification with commitment, and ruminative exploration). The study included participants from three different samples (total N = 2239, 66.7% women): two samples of emerging adult student and one sample of adolescents. Results confirmed the hypothesized five-factor dimensional model of identity in our three samples and provided evidence for convergent validity of the model. The results also indicated that exploration in depth might be subdivided in two aspects: a first form of exploration in depth leading to a better understanding and to an increase of the strength of current commitments and a second form of exploration in depth leading to a re-evaluation and a reconsideration of current commitments. Further, the identity status cluster solution that emerged is globally in line with previous literature (i.e., achievement, foreclosure, moratorium, carefree diffusion, diffused diffusion, undifferentiated). However, despite a structural similarity, we found variations in identity profiles because identity development is shaped by cultural context. These specific variations are discussed in light of social, educational and economic differences between France and the French-speaking part of Switzerland. Implications and suggestions for future research are offered.