The new Ghent criteria for Marfan syndrome: what do they change?

The diagnosis of Marfan syndrome (MFS) is challenging and international criteria have been proposed. The 1996 Ghent criteria were adopted worldwide, but new diagnostic criteria for MFS were released in 2010, giving more weight to aortic root aneurysm and ectopia lentis. We aimed to compare the diagnosis reached by applying this new nosology vs the Ghent nosology in a well-known series of 1009 probands defined by the presence of an FBN1 mutation. A total of 842 patients could be classified as MFS according to the new nosology (83%) as compared to 894 (89%) according to the 1996 Ghent criteria. The remaining 17% would be classified as ectopia lentis syndrome (ELS), mitral valve prolapse syndrome or mitral valve, aorta, skeleton and skin (MASS) syndrome, or potential MFS in patients aged less than 20 years. Taking into account the median age at last follow-up (29 years), the possibility has to be considered that these patients would go on to develop classic MFS with time. Although the number of patients for a given diagnosis differed only slightly, the new nosology led to a different diagnosis in 15% of cases. Indeed, 10% of MFS patients were reclassified as ELS or MASS in the absence of aortic dilatation; conversely, 5% were reclassified as MFS in the presence of aortic dilatation. The nosology is easier to apply because the systemic score is helpful to reach the diagnosis of MFS only in a minority of patients. Diagnostic criteria should be a flexible and dynamic tool so that reclassification of patients with alternative diagnosis is possible, requiring regular clinical and aortic follow-up.

Checklist for follow-up of adolescents with chronic illness. A monitoring tool to help prepare the transition from pediatric to adult care.

Adolescence can be a particularly challenging period for individuals with a chronic illness. To help the specialized healthcare teams, an expert panel drafted a checklist of topics to be addressed throughout adolescence that are often not covered in subspecialty clinic visits such as peers, coping, adherence, understanding of illness, sexuality, etc., since these topics apply to youth with special healthcare needs. Each member of the specialized team can discuss one of the themes according to their role with the adolescent as a doctor, educator, nurse, dietician, etc. The coherence of the team enables a comprehensive approach and will facilitate the transition to adult medical care.

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.

Mutations in the FBN1 gene cause Marfan syndrome (MFS) and have been associated with a wide range of milder overlapping phenotypes. A proportion of patients carrying a FBN1 mutation does not meet diagnostic criteria for MFS, and are diagnosed with "other type I fibrillinopathy." In order to better describe this entity, we analyzed a subgroup of 146 out of 689 adult propositi with incomplete "clinical" international criteria (Ghent nosology) from a large collaborative international study including 1,009 propositi with a pathogenic FBN1 mutation. We focused on patients with only one major clinical criterion, [including isolated ectopia lentis (EL; 12 patients), isolated ascending aortic dilatation (17 patients), and isolated major skeletal manifestations (1 patient)] or with no major criterion but only minor criteria in 1 or more organ systems (16 patients). At least one component of the Ghent nosology, insufficient alone to make a minor criterion, was found in the majority of patients with isolated ascending aortic dilatation and isolated EL. In patients with isolated EL, missense mutations involving a cysteine were predominant, mutations in exons 24-32 were underrepresented, and no mutations leading to a premature truncation were found. Studies of recurrent mutations and affected family members of propositi with only one major clinical criterion argue for a clinical continuum between such phenotypes and classical MFS. Using strict definitions, we conclude that patients with FBN1 mutation and only one major clinical criterion or with only minor clinical criteria of one or more organ system do exist but represent only 5% of the adult cohort.

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

BACKGROUND: The diagnosis of Marfan syndrome (MFS) is usually initially based on clinical criteria according to the number of major and minor systems affected following international nosology. The number of FBN1 mutation carriers, at risk of aortic complications who would not be properly diagnosed based only on clinical grounds, is of growing importance owing to the increased availability of molecular screening. The aim of the study was to identify patients who should be considered for FBN1 mutation screening. METHODS: Our international series included 1009 probands with a known FBN1 mutation. Patients were classified as either fulfilling or not fulfilling "clinical" criteria. In patients with unfulfilled "clinical" criteria, we evaluated the percentage of additional patients who became positive for international criteria when the FBN1 mutation was considered. The aortic risk was evaluated and compared in patients fulfilling or not fulfilling the "clinical" international criteria. RESULTS: Diagnosis of MFS was possible on clinical grounds in 79% of the adults, whereas 90% fulfilled the international criteria when including the FBN1 mutation. Corresponding figures for children were 56% and 85%, respectively. Aortic dilatation occurred later in adults with unfulfilled "clinical criteria" when compared to the Marfan syndrome group (44% vs 73% at 40 years, p<0.001), but the lifelong risk for ascending aortic dissection or surgery was not significantly different in both groups. CONCLUSIONS: Because of its implications for aortic follow-up, FBN1 molecular analysis is recommended in newly suspected MFS when two systems are involved with at least one major system affected. This is of utmost importance in patients without aortic dilatation and in children.

[A diagnostic questionnaire for the hyperventilation syndrome in children]. / Elaboration d'un questionnaire diagnostique du syndrome d'hyperventilation chez l'enfant.

INTRODUCTION: Intensive efforts should be made to diagnose the hyperventilation syndrome (HVS) at an early stage as this will prevent stigmatisation and reinforcement of symptoms. It will also prevent children from undergoing unnecessary medical examinations and treatment. A diagnostic questionnaire should be useful for this purpose. METHODS: We administered a questionnaire with 16 respiratory symptoms and 23 non respiratory symptoms to 25 children with HVS alone, 20 with asthma and HVS, and two control groups: 20 children with asthma without HVS and 20 presenting with trauma. For each symptom a visual analogue scale (VAS) was completed. The symptoms for which the mean VAS values were significantly different between the children with HVS and the controls were subject to principal component analysis after varimax rotation with Kaiser normalisation. RESULTS: There was no significant difference in symptoms between HVS children with or without asthma. The five major respiratory symptoms were: throat-clearing, sniffing, difficulty in breathing in, sighing and yawning. The combined sensitivity of those symptoms was 99%, the combined specificity 24%. The five major non-respiratory symptoms were: anxiety, difficulty in going to sleep, general fatigue, abdominal pain, and joint pains. The combined sensitivity of those symptoms was 99%, the combined specificity 36%. CONCLUSIONS: We performed a simplified diagnostic questionnaire for HVS in healthy and asthmatic children and found 5 respiratory and 5 non-respiratory symptoms of significance.

[Medication errors in pediatric inpatients: a multicentric prospective study]. / Erreurs de prescription médicamenteuse en pédiatrie hospitalière: enquête prospective multicentrique. Implications pour la prévention.

OBJECTIVE: To improve the knowledge of medication errors in paediatrics: rate of occurrence, error characteristics, risk factors. PATIENTS AND METHODS: Our prospective study included nine uninformed teaching paediatric wards (general paediatrics, emergency departments, intensive care units) using a describing questionnaire built from medical reports analysis (event description, medical issues, contributing personal and structural factors) during a two-months period. RESULTS: Seventy-five questionnaires were collected and analysed. Medical errors reported concerned prescription: 21 cases and administration: 45 cases. Ten errors led to adverse effects. An attributable factor was noted in 39 cases. Concerning prescription errors, no respect to protocol: 11 cases, lack of knowledge: 3 cases, personal communication failure: 3 cases were noted. Concerning administration errors, human mistakes (lack of experience, miscommunication, calculation error): 8 cases, unclear prescription: 6 cases and system flaws: 6 cases were noted. Several attribuable causes were reported in 8 cases. CONCLUSIONS: Medication errors in paediatrics inpatients are common and contributing factors intricated. Paediatricians should help hospitals develop effective programs for safety providing medications, reporting medication errors, errors analysis strategy and creating a safe environment of medication for all hospitalised paediatric patients.

[Cannabinoid hyperemesis syndrome: A review of the literature]. / Syndrome d'hyperémèse cannabique : revue de la littérature.

Cannabis is the most widely used illicit drug in the world. In France, cannabis use has been increasing among youth since 2011, in both experimental use and regular consumption. A distinct syndrome, characterized by recurrent vomiting associated with abdominal pain and compulsive bathing, has been increasingly recognized in adult chronic users. Cannabinoid hyperemesis syndrome (CHS) is still underdiagnosed in adults and even more so among adolescents. Classically, CHS progresses into three distinct phases: prodromal, hyperemetic, and recovery. During the prodromal phase, the patient develops early morning nausea, a fear of vomiting, and abdominal discomfort. Afterward, the hyperemetic phase consists of incapacitating nausea and profuse vomiting. Most patients complain of mild abdominal pain and weight loss. Patients are relieved by taking hot showers. The recovery stage begins with cessation of cannabis use. The majority of patients will develop this symptom within 1-5years after the beginning of consumption. CHS is a clinical diagnosis and should be considered in every case of cyclical vomiting. To date, the specific etiology of CHS is unknown as is the pathophysiology of improvement with hot baths. All youth presenting with cyclic vomiting should be questioned about cannabis use and compulsive hot bathing. The early recognition of this syndrome will save unnecessary and invasive investigations.

[Perception of adolescent medicine among French pediatric residents]. / Représentations de la médecine de l'adolescent chez les futurs pédiatres.

PURPOSE: The perception of adolescent medicine (AM) among future pediatricians in France has scarcely been explored although adolescent health care is an integral part of the pediatrician's job. Moreover, pediatric residents seem to have a lack of enthusiasm for this field. The aim of this study was to assess the beliefs and perceptions of fourth-year French pediatric residents regarding adolescents and AM. METHODOLOGY: We conducted a national electronic survey among French pediatric residents in their last year of residency. An original 51-item, open-ended declarative questionnaire was sent out including questions on demographics, career expectations, AM block rotation experiences, and perceptions and beliefs regarding adolescents and AM. Difficulties and barriers experienced in this field were investigated. Queries about residents' specific AM courses and about their educational needs were also explored. RESULTS: The survey was conducted online between January and March 2015. There were 121 respondents, achieving a 43% response rate. The majority of respondents perceived teens as interesting (75%), vulnerable (83%), and time-consuming (84%). Up to four fifths of respondents (81%) considered AM to be a skill that all pediatricians should acquire. A subgroup analysis showed that the residents who had not experienced an AM block rotation did not seem to be convinced of the need for training in this field (P=0.09). The following issues were reported as major difficulties by residents: providing care for teens reluctant to seek health care (65%), managing violent behavior among adolescents in the emergency ward (98%), and managing adolescents who attempt suicide (80%). Less than half (45%) of the residents reported their residency program had a specific AM course. Among them, 73% attended the lectures and 57% found them useful. One third (32%) of the respondents had experienced a 2-month block rotation in the field of AM during their residency. DISCUSSION: This is the first nationwide study in France in this field. Although the response rate is below 50%, it exceeded our expectations. Our results are in line with previous studies showing that pediatric residents report a high interest in working with adolescents and yet their educational needs in AM are unmet. The limitations of this study include the self-selection bias and implicit limitations carried by the phrasing of the survey questions. CONCLUSIONS: There is a need to devise a better educational approach combining a broader proposal of AM block rotations together with a specific competency framework in adolescent health, since we know it improves the quality of health care delivered to adolescents. Moreover, training pediatricians in AM is a public health priority so as to comply with medical schools' principles of social accountability and address the priority health needs for an efficient, equitable, and sustainable health system. At a time when postgraduate reform is being made, the inclusion of an AM curriculum in the general pediatrician course is necessary.

Respiratory development of 5- to 6- year-old children experiencing a first bronchiolitis episode before age one.

BACKGROUND: The relationship between early infections due to respiratory syncytial virus (RSV), particularly bronchiolitis in infancy, and the subsequent development of asthma, bronchial hyper-responsiveness, and/or other allergic manifestations, seems increasingly certain, even if the mechanisms involved are not yet quite clear. OBJECTIVES: The objectives of this work were to determine the prevalence of, and risk factors for, asthma and allergy in 5 to 6 year-old children who five years previously, had experienced their first episode of bronchiolitis before the age of twelve months, and to define the possible effect of the age at which the bronchiolitis occurred on the subsequent development of asthma. METHOD: A retrospective cohort survey was conducted, based on the registers of two hospital paediatric emergency units (Unit A: the Ambroise Pare teaching hospital at Boulogne, France and unit B: the General Hospital of Cherbourg, France). The cohort comprised 5-6 years old children who had consulted or been admitted to emergency unit A or B between October 1993 and March 1994 for a first attack of bronchiolitis before the age of 12 months. RESULTS: One hundred and twenty eight children were included in the two centres (centre A: 78; centre B: 50). A familial history of allergy was found in 92 children (71.8%). Fifty-two (40.6%) were exposed to tobacco smoke. One hundred and five children (81.2%) had been hospitalised during the first episode of bronchiolitis, but none had been placed in intensive care. Their mean age at admission was 5.1 months, and 29 children were less than three months old. Ninety seven children (75.8%) had experienced at least one episode of wheezing at some time of their life. In the twelve months before the telephone interview, 40 children (31.3%) had had at least one such episode, 47 (36.7%) an attack of asthma, 32 (25.0%) wheezing after an effort, 43 (39.4%) a dry cough at night, 52 children (40.6%) had exhibited allergic rhinitis signs, and 32 (25.0%) eczema. Among the 47 children who had experienced at least one attack of asthma during the previous twelve months, 27 (57.4%) had a history of familial asthma (p<0.04). This was the only significant relationship observed in this study with regard to risk factors for asthma. No relationship was observed between asthma or recent wheezing on the one hand, and on the others age less than three months during the first bronchiolitis episode (p=0.6), initial hospital admission (p=0.6) tobacco smoke exposure (p=0.27), sex (p=0.10) or day care management until age three (p=0.73). DISCUSSION: This study showed a high prevalence of asthma and other allergic manifestations in children who five years previously, had experienced their first bronchiolitis episode before the age of twelve months. The only risk factor for asthma or chest wheezing identified in this study was a familial history of allergy. These data support the idea that for most children, early acute bronchiolitis, even if severe, is a transient event, with no or very few consequences in the middle or long term. Nevertheless it may be the expression of an interaction between viral infection and atopic familial predisposition leading to lasting bronchial hyper-responsiveness.

[Hyperventilation syndrome in children]. / Le syndrome d'hyperventilation pulmonaire chez l'enfant, revue de la litterature.

Hyperventilation syndrome is frequent in adults. There are only very few and very ancient publications in children. Diagnosis is sometimes difficult, because the symptoms often mimic those of organic diseases. Hyperventilation syndrome and organic diseases, especially asthma, often coincide. Intensive efforts should be made to diagnose hyperventilation syndrome at an early stage because this will prevent stigmatization and fixation of symptoms and disease, and also prevent children from undergoing unnecessary medical examinations and therapies. The authors review the literature about hyperventilation syndrome in children.

[Written asthma action plans: a useful tool for self-management]. / Le plan d'action écrit : un outil pour l'autogestion de l'asthme.

Written action plans for asthma have been recommended for many years. However, despite the fact that their effectiveness has been demonstrated, they are not used enough. The plans that we propose are serviceable and the method that we suggest makes them easy to use in the treatment of asthmatic children. These plans are made for patients who do not use a peak-flow meter (plans based on symptoms) and those who control this tool (plans based on peak expiratory flow).

[Espace Santé Jeunes, a medical care unit for vulnerable youth]. / L'Espace santé jeunes, un espace de soin pour jeunes fragilisés.

Adolescents, especially belonging to vulnerable groups, feel excluded from the health system. Indeed, they lack their own care service, between the child protection and the "social help" consultations. For five years now, the Espace santé jeunes (Young People Health Center) has tried to help them to regain control over their body, and to take care of their own health. Some patients only need to be reassured about their "normality", whereas others suffer from severe pathologies that were never treated before.

[How to identify the psychologically endangered adolescents in an emergency unit]. / Les adolescents aux urgences: comment repérer ceux qui sont en danger?

First aid is the most frequent way of contact of adolescents with the hospital. For many of them, the apparent reason of first aid request is only a part of larger care needs including medical, psychological and sociofamilial aspects which are frequently overlooked in the context of overcharged work of emergency units. In this paper we present a protocol aiming to identify psychologically endangered adolescents among those seen in the emergency unit of the Hôtel-Dieu hospital in Paris. The protocol is based upon a questionnary filled by the adolescents. According to the response score to this questionnary the practitioner in charge of the adolescent may be alerted, and, besides the medical or surgical first aid, may orientate the adolescent toward a management by a youth specialized team.

[Acute gastric dilatation with superior mesenteric artery syndrome in a young girl with anorexia nervosa]. / Dilatation aiguë de l'estomac avec pince mésentérique chez une jeune fille anorexique.

BACKGROUND: Acute gastric dilatation is a rare complication of anorexia nervosa which may be fatal in case of gastric perforation. Superior mesenteric artery syndrome may be associated with gastric dilatation. CASE REPORT: A 14 year-old girl was admitted suffering from severe anorexia nervosa. Shortly after admission, she complained of abdominal pain related to a bulimic episode a few days before, followed by nausea and vomiting. Distended abdomen and tachycardia suggested acute small-bowel obstruction. A diagnosis of acute gastric dilatation with superior mesenteric artery syndrome was suspected on X-ray examination and confirmed by esophagogastrography after gastric evacuation. The patient improved rapidly under total parenteral nutrition. Upper gastrointestinal study repeated 10 days later showed normal stomach. CONCLUSIONS: Small-bowel obstruction in anorexia nervosa first evokes acute gastric dilatation, and a perforation has to be ruled out by esophagogastrography. Association with superior mesenteric artery syndrome is possible; it does not necessarily lead to surgery.

[The emergency department: an appropriate place for identifying troubled teens]. / Les urgences, un lieu de repérage des adolescents en difficulté

OBJECTIVES: The main objective of this study was to estimate the prevalence of psychological distress among adolescents seen in emergency departments, and the secondary objective was to highlight their main reasons for consulting. METHODS: Cross-sectional study in three multicenter emergency departments receiving adolescents in Île-de-France conducted in 2010. All adolescents completed a questionnaire including the ADRS (Adolescent Depression Rating Scale, a screening questionnaire for depression) and a series of questions relating to somatization and risk behaviors. RESULTS: The study included 346 adolescents, 320 of which were fully analyzed. The ADRS score was considered normal (score < 3) for 70.6% of the sample (n = 226), 19.4% of adolescents (n = 62) had moderate depressive symptoms (3 ≤ score < 6), and 10.0% severe depressive symptoms (score ≥ 6) (n = 32). The majority of patients consulted for trauma and less than 10% for acute psychiatric problems; 17% of adolescents who came to the emergency department for a nonpsychiatric reason had an ADRS ≥ 3, i.e., with mental distress. CONCLUSION: The routine use of a self-administered questionnaire in the emergency services could identify adolescents with moderate to severe depressive symptoms.

[Prevalence of chronic hyperventilation syndrome in children and teenagers]. / Prévalence du syndrome d'hyperventilation chronique chez les enfants et les adolescents.

OBJECTIVE: The aim of this study was to investigate the prevalence of hyperventilation syndrome in the general population of children and teenagers from the Île-de-France region (France). METHODS: Three hundred children and teenagers (170 girls and 130 boys, aged 1 to17 years) were included in the study. To evaluate the probability of hyperventilation syndrome, we asked the children and teenagers to complete the Hyperventilation Syndrome Ambroise-Paré Enfant (SHAPE) questionnaire. The frequency of occurrence of the signs was evaluated by the child himself or herself with or without parental help. Children and teenagers with a score of 25 or over were considered to have hyperventilation syndrome. RESULTS: Sixty-three out of 300 questionnaires with a score of 25 or over revealed the presence of hyperventilation syndrome: 21% of the population evaluated. Among those surveyed, 42 were girls and 21 boys: 24.7 and 16.2%, respectively. The 280 questionnaires filled out among the non-asthmatics showed that 52 were positive (18.6%), while the positivity rate in the asthma group amounted to 55%. CONCLUSION: Although the diagnostic criteria for hyperventilation syndrome remains contested, this study shows that the disorder is real and frequent.

[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.