[Motivations for a consultation before adoption: A multicenter study]. / Étude multicentrique sur les motivations d'une consultation avant adoption.

INTRODUCTION: While the number of international adoptions in France is decreasing, adopted children are older and in poorer health than they used to be. This phenomenon has resulted in an increase in the demand for preadoption consultations over the past several years. This study analyses the reasons for these consultations. METHOD: Prospective multicenter study conducted from 1 January to 31 December 2013. RESULTS: Ten centers contributed to the study, i.e., 196 preadoption consultations. Seeking medical advice was the reason for 88% of the consultations, whether the advice was based on the study of an identified child's medical file (32%) or a country's healthcare characteristics, whether the country was identified (34%) or not (23%). In 6% of cases, the motive for preadoption consultations was social and familial, and in the last 5% it was to obtain general information about adoption and its procedures. In more than 40% of the cases, whether the child or the country identified, Russia is the subject of the consultation because of the complexity of the files and because of the dreaded but rarely mentioned fetal alcohol syndrome. CONCLUSION: The deterioration of adopted children's health is an additional worry for future adoption applicants. To provide them with the best information possible without making choices for them, specialists should have substantial experience in adoption before going into these preadoption consultations.

[Catch-up vaccination of worldwide newcoming (adopted, refugee or migrant) children in France]. / Mise à jour des vaccinations de l'enfant arrivant de l'étranger (adopté, réfugié ou migrant) en France.

In France, international adoption includes around to 90,000 children since 1980 and near 300,000 immigrant children were counted in 2008. This population is heterogeneous, according to age and country of origin, and its large number. It is not easy to completely and surely assess the vaccine status of the child. Due to a great variability of individual situations, it is not possible to have systematic and unchangeable rules. This article aims to give an update of catch-up vaccination of internationally adopted or refugee or migrant children in France. The vaccination status of a child who recently arrived in France is complex and has to be adapted to his country of origin. Some of them were never vaccinated whereas the vaccine status of others is uncertain or unknown. Three parameters have to be considered: the age of the child, the country of origin, and sometimes serology in the case of doubts of his vaccine status. Catch-up vaccination of foreign children has to be adapted to French vaccine recommendations, as a reference, and to vaccines already administered to the child.

[Update on vaccine research. Proceedings of the 15th annual conference on vaccine research organized by the National Foundation for Infectious Diseases]. / Actualités en matière de recherche vaccinale. Compte-rendu de la 15(e) conférence annuelle sur la recherche vaccinale organisée par la National Foundation for Infectious Diseases.

Every year, the National Foundation for Infectious Diseases brings together more than 300 participants to review progress in vaccine research and development and identify the most promising avenues of research. These conferences are among the most important scientific meetings entirely dedicated to vaccine research for both humans and animals, and provide a mix of plenary sessions with invited presentations by acknowledged international experts, parallel sessions, poster sessions, and informal exchanges between experts and young researchers. During the Fifteenth Conference that took place in Baltimore in May 2012, various topics were addressed, including the scientific basis for vaccinology; exploration of the immune response; novel vaccine design; new adjuvants; evaluation of the impact of newly introduced vaccines (such as rotavirus, HPV vaccines); vaccine safety; and immunization strategies. The new techniques of systems biology allow for a more comprehensive approach to the study of immune responses in order to identify correlates of protection and to design novel vaccines against chronic diseases such as AIDS or malaria, against which natural immunity is incomplete.

Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.

We report on a rare homozygous intragenic deletion encompassing exons 1-6 of the SMN1 gene in a patient with spinal muscular atrophy (SMA) born into a consanguineous family. This exceptional configuration induced misinterpretation of the molecular defect involved in this patient, who was first reported as having a classic SMN1 exon 7 deletion. This case points out the possible pitfalls in molecular diagnosis of SMA in affected patients and their relatives: exploration of the SMN1 exon 7 (c.840C/T alleles) may be disturbed by several non-pathological or pathological variants around the SMN1 exon 7. In order to accurately describe the molecular defect in an SMA-affected patient, we propose to apply the Human Genome Variation Society nomenclature. This widely accepted nomenclature would improve the reporting of the molecular defect observed in SMA patients and thus would avoid the commonly used but imprecise terminology "absence of SMN1 exon 7."

The pituitary stalk interruption syndrome: endocrine features and benefits of growth hormone therapy.

INTRODUCTION: Childhood anterior-pituitary insufficiency has many causes (malformative, genetic, traumatic, tumoral...). One particular entity can be clearly identified: pituitary stalk interruption syndrome (PSIS). The aim of our study was to analyse the long-term evolution of patients with PSIS. PATIENTS AND METHODS: The records of all the children followed at Dijon University Hospital between 1990 and 2008 who underwent brain magnetic resonance imaging (MRI) and endocrinological evaluation that revealed a growth hormone (GH) deficiency were analysed. We thus selected 14 children diagnosed with PSIS according to the results of MRI. We studied the perinatal characteristics of these patients, then the auxological and the endocrine evolutions, before the initiation of GH therapy and then after 1 and 3 years of treatment and during the last evaluation. RESULTS: Fourteen children were diagnosed with PSIS at a mean+/-sd age of 3.2+/-3.5 years, five of whom being diagnosed during the first 2 months of life. Growth, as well as other anterior-pituitary deficiencies, was systematically followed up two to four times a year depending on the clinical context. The results in terms of endocrinology were analysed in all 14 children, and with regard to auxology in the 10 children who received GH therapy for at least 12 months, with a mean of 8.3+/-4.2 years and at a mean maintenance posology of 0.22+/-0.02mg/kg per week. Among the 14 children, 12 had complete GH deficiency while two had a partial deficiency. Nine had multiple anterior pituitary deficiencies, diagnosed at the same time or later in five and four of them respectively. A clinical picture of panhypopituitarism was found in the infants who were diagnosed with PSIS in their first months of life. In the 10 children who were treated for at least 12 months, the height before treatment was -3.1+/-0.8 standard deviation score (SDS). At the last consultation, the total gain in height was +2.5+/-0.9 SDS compared to the distance to target height of +2.7+/-0.6 SDS. The height gain after 1 year of treatment corresponded to 60% of the total gain. CONCLUSION: In children with PSIS, the other anterior pituitary deficiencies are often associated with GH deficiency and sometimes during the first month of life. These functions therefore require to be carefully followed early, periodically and in the long term. Growth in these children responds particularly well to GH therapy, in particular during the first year.

[Breastfeeding and culture]. / Allaitement maternel et culture.

Pediatricians consider that breast-feeding is the most appropriate means of nourishing infants. However, in cultural terms, lactation far outweighs this purely dietary function. The act of breast-feeding is very often regarded as being of prime importance and is accordingly strictly controlled. In human societies the choice, duration, and mode of lactation, are governed by various prohibitions or beliefs. Infant feeding habits are transformed by major social changes, such as women working outside the home, female emancipation or the emergence of a consumer society, although this is not always noticed by physicians and health systems. Rather than being organic in origin, most cases of inadequate milk production are due to social causes. Hence, when promoting breast feeding, in addition to argue on the basis of scientific knowledge, physicians must take into account the changes in the social context.

[Bullous cutaneous mastocytosis revealed by acute disease secondary to morphine administration]. / Mastocytose cutanée bulleuse révélée par un malaise grave secondaire à la prise de morphinique.

UNLABELLED: Mastocytosis in children shows in three clinical forms. The rarest is the diffuse or bullous form. CASE REPORT: Since one month of age an infant showed a diffuse erythema and vesicle rash. At four months of age, serious discomfort after morphinic absorption led to the diagnosis of bullous cutaneous mastocytosis. Histologic examination confirmed this diagnosis. The clinical severity led to intravenous corticosteroid and antihistamine therapy. COMMENTS: Bullous cutaneous mastocytosis is unusual in children. However, it should be considered if there are any doubts because of its serious complications and iatrogenic therapeutic risks. Some serious cases require intravenous corticosteroid therapy. Appropriate care enables a normal development with a disappearance of the disease before the teenage years.

Association of Marfan's syndrome and Turner's syndrome.

We report on a 12 year-old girl with severe myopia, ectopia lentis, dilatation of the ascending aorta, protrusio acetabulae, arachnodactyly, scoliosis and moderate short stature (-1.7 SD). Her sister and father presented with Marfan's syndrome. Despite short stature, Marfan's syndrome could not be ruled out. Primary amenorrhoea and growth retardation indicated cytogenetic analysis which showed chromosomal aberration 45,X in every studied cell. However, she did not present any other clinical features of Turner's syndrome. We report here for the first time on an association of Turner's syndrome and Marfan's syndrome in the same patient, and discuss particular clinical features.

[Foreign adopted children growth follow-up]. / Surveillance de la croissance des enfants adoptés à l'étranger.

For twenty years, Western Europe has taken part in a substantial development of international adoption. A consequent risk of precocious puberty affects little girls following such adoption. This diagnosis is still often unrecognized or passed off as a problem from the country of origin. It is important however not to delay treatment so as not compromise the final height. The start of puberty depends heavily on weight. Weight gain provokes the secretion of leptine, the latter increasing the frequence of GnRH peaks. Hence the radical change in diet which often experienced by the little girls adopted from developing countries and placed in rich countries, can provoke the onset of puberty. It is therefore necessary to follow very closely the height and weight curves of children adopted from overseas, particularly during the first year following adoption. The risk is as great as the need for an improved diet itself. Girls aged from three to nine at the time of their adoption comprise the group most susceptible to this disease. It is advised to have an X-ray taken upon their arrival to ascertain the age of the bones, allowing follow-up care in the case of a too rapid acceleration in growth. The treatment is the same for all central precocious puberty.

[Who are my parents? Filial adoption and the function of time and place]. / Qui sont mes parents? Filiation adoptive en fonction du temps et de l'endroit.

Despite a substantial development for several years, adoption frequently remains seen as an unnatural phenomenon which cannot replace a biological relationship. In all periods and everywhere in the world children have been and are being resettled, and history and anthropological studies show that there exist as many modes of adoption as societies. In some societies, such as in Polynesia, no differences exist between biological and adoptive parenthood. The most important thing is to allow every child to have a family, biological or not. The adopted child must be told about her/his adoption as early as possible in a natural manner. Concealing the truth may lead to a profound psychological wound when later learned by the child.

[Precocious puberty secondary to an intramedullary germinoma]. / Puberté précoce secondaire à un germinome intramédullaire.

BACKGROUND: hCG secreting tumors are responsible for 21% of precocious puberties in boys. Usual localizations are hepatic, cerebral, mediastinal and gonadic. CASE REPORT: A 4-year-old boy developed precocious puberty with rapid evolution. Serum beta hCG suggested germinal etiology, but radiological procedures failed to find any usual localization. Further occurrence of pain in the legs led to carry out a lumbar puncture. The high cerebrospinal fluid/blood gradient of beta hCG suggested the presence of an intramedullar tumor. Medullar magnetic resonance imaging found a large tumor facing L1 and L2. CONCLUSION: To our knowledge, this localization is described for only the second time.