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.

[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.

[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.

[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.

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.

[Benign afebrile seizures in rotavirus gastroenteritis]. / Convulsions non fébriles bénignes associées à une gastro-entérite aiguë à rotavirus chez l'enfant.

Benign afebrile seizures associated with mild gastroenteritis and normal serum electrolytes are often described in Asian infants under the name of convulsions with mild gastroenteritis (CwG). Herein, we report 3 cases of CwG that occurred in Caucasian children. Clinical features and outcomes are described and the cases reported in the literature are reviewed. The CwG syndrome is now recognized as a distinct entity characterized by the following criteria: (1) it occurs in previously healthy 6-month to 3-year-old children who present with afebrile convulsions, (2) it is associated with mild gastroenteritis, (3) seizures tend to occur in a clustered manner, (4) interictal EEG shows no paroxysmal discharge, and (5) laboratory examinations are normal, including normal cerebrospinal fluid, serum electrolytes and glycemia. The CwG syndrome is a self-limited disease with a short course and a good prognosis. Investigations must be targeted and anticonvulsivant therapy is not required. As rotavirus is the most common agent among the diarrheal viruses detected to be the cause of CwG, one could hypothesize that this virus may play a role in the CwG pathogenesis.

[Rapid malnutrition in patient with anorexia nervosa: experience of a general pediatric department]. / Dénutrition rapide au cours de l'anorexie mentale : expérience d'un service de pédiatrie générale.

OBJECTIVE: Rapid undernutrition in patients with anorexia nervosa can compromise vital functions, notably due to cardiac complications. The aim of this study was to analyze the clinical parameters of anorexic patients, hospitalized for substantial weight loss, in a general pediatric inpatient unit, in order to determine which parameters should be tested by the medical doctor. POPULATION AND METHODS: We performed a retrospective study on 20 consecutive patients (18 girls), median age of 13.75 (+/-2.3) years, admitted for the first time in our pediatric inpatient unit for anorexia nervosa. RESULTS: Symptoms evolved for a median duration of 11.5 (+/-10.2) months before admittance and was shorter for the youngest patients (r = 0.42, p = 0.067). The mean BMI was 13.3 (+/-0.6) kg/m(2) (-3.0+/-1.2 Z-score) and was inversely correlated with serum creatinine levels (74+/-15 micromol/l) (r = 0.44, p < 0.05). The mean BMI variation between the beginning of the disease and hospitalization (Delta BMI) was-3.5 Z-score and was correlated to low systolic blood pressure (r = 0.45, p< or =0.05) and the presence of a pericardial effusion at admittance (r = 0.45, p < 0.05). Complete blood count, electrolyte balance and the serum phosphorus levels were normal except in 1 case. Mean serum glucose was 3.5+/-1.2 mmol/l. At admittance, an electrocardiogram, performed for 16 patients, showed sinusal bradycardia without conduction impairment. Enteral nutrition was necessary for 14 patients (70%) for a mean duration of 18.1 days (range, 6-56 days). The mean weight gain was 3.1+/-2 kg and was inversely correlated to the BMI at admittance (r = 0.49, p < 0.05). CONCLUSION: Medical supervision of undernutrition tolerance during anorexia nervosa is above all clinical, as hematological and biological parameters remain normal for a long time. The cardiac complications found in our study appeared to be more related to the rapid rate of weight loss than to the amount of weight loss itself.

[The first consultation with an adolescent]. / La première consultation avec un adolescent.

It is crucial not to miss the first consultation with an adolescent. This article reviews some of the essential step necessary to help make the first consultation a success: the time to devote to the patient, the preparation of the consultation, mandatory issues to address, clinical/physical examination, conclusion of the consultation, the prescriptions and the follow-up.

[Diagnostic value of the SHAPE questionnaire in recognition of the hyperventilation syndrome in children: a pilot study]. / Valeur diagnostique du questionnaire SHAPE pour le syndrome d'hyperventilation de l'enfant : étude pilote.

OBJECTIVE: Determination of a diagnostic scoring method for hyperventilation syndrome (HVS) in children and proposal of a simplified questionnaire. METHOD: We used the main clinical signs of HVS in children and adolescents identified in a previous study and classified them according to their odds ratios (OR). The intensity of each sign, measured using a visual analogic scale in the previous study, led us to analyze several scoring methods, with a breakdown between major and minor signs according to their OR. Building receiver operating characteristics (ROC) curves allowed us to choose the best diagnostic combination. RESULTS: A sample of 85 children and adolescents aged from 7 to 20 years (mean age, 11.9 years) was tested. This sample comprised 45 children with isolated HVS or HVS associated with asthma and 40 controls, with asthma but without HVS or attending our emergency unit after trauma. Seven respiratory signs and 10 nonrespiratory signs were selected. For each scoring method, a significant difference was observed between HVS and non-HVS patients. The most suitable area under the curve (0.934) and the best combination between specificity and sensitivity (Sp=0.90 and Se=0.82) were obtained when the scoring method was 0,3,6 for major signs, and 0,1,2 for minor signs, according to perceived intensity of each sign ("never or almost never", "sometimes" or "often or very often"). CONCLUSION: Since no gold standard is available to confirm the diagnosis of HVS in children, we propose using a simplified questionnaire composed of 17 items to compute a diagnostic score. The questionnaire will be validated shortly in a new prospective study.

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.

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

Mutations in the FBN1 gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast majority of probands carrying a mutation within exons 24-32. We previously showed that a mutation in exons 24-32 is predictive of a severe cardiovascular phenotype even in non-neonatal cases, and that mutations leading to premature truncation codons are under-represented in this region. To describe patients carrying a mutation in this so-called 'neonatal' region, we studied the clinical and molecular characteristics of 198 probands with a mutation in exons 24-32 from a series of 1013 probands with a FBN1 mutation (20%). When comparing patients with mutations leading to a premature termination codon (PTC) within exons 24-32 to patients with an in-frame mutation within the same region, a significantly higher probability of developing ectopia lentis and mitral insufficiency were found in the second group. Patients with a PTC within exons 24-32 rarely displayed a neonatal or severe MFS presentation. We also found a higher probability of neonatal presentations associated with exon 25 mutations, as well as a higher probability of cardiovascular manifestations. A high phenotypic heterogeneity could be described for recurrent mutations, ranging from neonatal to classical MFS phenotype. In conclusion, even if the exons 24-32 location appears as a major cause of the severity of the phenotype in patients with a mutation in this region, other factors such as the type of mutation or modifier genes might also be relevant.

[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.