[Sudden death in adults : Data from 305 consecutive autopsy cases in Algeria]. / Mort subite de l'adulte : données de 305 cas d'autopsies consécutives en Algérie.

BACKGROUND-AIMS: Sudden death in a young adult who showed no prodrome or complaint during his lifetime is a tragedy. The death often remains unexplained by doctors and is often the subject of a judicial investigation following which an autopsy is ordered. Our study joins several studies around the world, where the results have linked sudden death in adults to a cardiac origin. METHODS: Through a series of 305 autopsies carried out in the forensic medicine department of the Frantz Fanon hospital in the city of Bejaia in Algeria over a period of two years, 57 cases corresponded to unexplained sudden deaths, i.e. an incidence of 3 cases per 100,000 inhabitants per year. RESULTS: Sudden death was of cardiac origin in 50.8% of cases (N=28). Two epidemiologic profiles emerge in our study: the first is that of a man aged between 50 and 60 years of age, with several deleterious lifestyle habits (in particular smoking) with a cardiovascular history, previously followed by a cardiologist, who died suddenly out-of-hospital, from ischemic heart disease. The second is that of a young adult under 40 years of age, of average build, with no particular medical history, having not previously consulted a cardiologist, who died suddenly of hypertrophic cardiomyopathy. CONCLUSIONS: In many instances, we observed major anatomical lesion, which had not motivated any prior medical consultation either with a general practitioner or with a cardiologist.

Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype.

Introduction: Ciliopathies with major skeletal involvement embrace a group of heterogeneous disorders caused by pathogenic variants in a group of diverse genes. A narrow thorax with shortening of long bones inspires a clinical entity underlined by dysfunction of primary cilia. Currently, more than 23 genes are listed in the OMIM database corresponding to this clinical entity: WDR19/34/35/60, IFT43/52/80/81/140/172, DYNC2LI1, TTC21B, DYNLT2B, EVC2, EVC, INTU, NEK1, CEP120, DYNC2H1, KIAA0586, SRTD1, KIAA0753, and SRTD12. Recently, individuals with biallelic loss-of-function variants in GRK2 are shown to demonstrate a phenotype compatible with Jeune syndrome. Experimental evidence has shown that impaired function of GRK2 compromises cilia-based signaling of Hedgehog pathway as well as Wnt signaling, while cilia morphology remains intact. Hence, GRK2 is now considered an essential protein in regulation of the skeletogenesis. Case Presentation: We presented a female infant born to a consanguineous marriage who was found to have a biallelic p.R474* alteration in GRK2 in reanalysis of the whole-exome sequencing (WES) data. The patient was exhibiting major clinical features of Jeune syndrome, such as shortened long bones, ribs, and narrow thorax. Discussion: Our reanalysis of WES data revealed a likely pathogenic biallelic variant in the GRK2 which is probably responsible for the Jeune syndrome phenotype in the patient. Hence, our report supports the recently discovered association of GRK2 loss-of-function variants with Jeune syndrome phenotype and emphasizes the significance of reanalysis of WES data, notably in patients with phenotypes suggestive of a such discernible Mendelian disorder.

Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement.

Jeune syndrome, or asphyxiating thoracic dystrophy (JATD), is a rare autosomal recessive skeletal dysplasia with heterogeneous genetic and clinical phenotypes, which primarily affects cartilage and bone development. Herein, we report a patient with a lethal form of SRTD3 without polydactyly (JATD), which led to severe restrictive lung disease and fatal respiratory failure. A full-term boy was born to a 30-year-old mother who was known to have hypothyroidism and was on thyroxine. The parents were first-degree cousins and had one healthy older son. Fetal ultrasound showed a cephalic fetus, normal amniotic fluid and a fundal placenta. All long bones and ribs were below the 1% percentile. The femur was bowed with no fractures or signs of significant demineralization at time of imaging. Head and abdominal circumference were within normal range. An echocardiogram on the 2nd day of life showed severe pulmonary hypertension (PHTN). Nitric oxide was started due to the presence of persistent hypoxia and severe PHTN. The patient continued to require high cardiorespiratory support, but the medical condition worsened, and respiratory failure persisted. The patient died of severe respiratory failure at 16 days of life due to respiratory insufficiency secondary to a severely restricted thoracic cage. Whole-exome sequencing (WES) revealed a homozygous mutation in the DYNC2H1 (NM_001377.3) gene, namely, the c.9041G>T NP_001368.2: p.(Arg3014Ile) missense variant, which results in the substitution of the arginine codon at amino acid position 3014 with an isoleucine codon. The phenotyping of the patient's JATD and the detection of a homozygous variant in the DYNC2H1 gene confirmed the diagnosis of short-rib thoracic dysplasia-3 without polydactyly. In summary, the patient had isolated skeletal anomalies without polydactyly or other organ involvement. Additionally, the infant had severe PHTN on top of the respiratory failure, which eventually caused death. Considerably more work will need to be done to determine the clinical spectrum of JATD and understand its genetic heterogeneity.

Plant-based and Early Time-restricted Eating for Prevention and Treatment of Type 2 Diabetes in Adults: A Narrative Review.

Type 2 diabetes (T2D) is a significant public health challenge for which effective lifestyle interventions are needed. A growing body of evidence supports the use of both plant-based eating patterns and early time-restricted eating (eTRE) for the prevention and treatment of T2D, but research has not yet explored the potential of these dietary strategies in combination. In this narrative review we assessed the evidence by which plant-based diets, in conjunction with eTRE, could support T2D care. The electronic databases MEDLINE and the Web of Science were searched for relevant articles published throughout the last decade. Observational research has shown that healthy plant-based eating patterns and eTRE are associated with reductions in T2D risk. Interventional trials demonstrated that plant-based diets promote improvements in glycated hemoglobin, insulin resistance, glycemic control, and cardiometabolic risk factors. These changes may be mediated, in part, by reductions in oxidative stress, dietary acid load, and hepatocellular and intramyocellular lipids. The eTRE strategies were also shown to improve insulin resistance and glycemic control, and mechanisms of action included enhanced regulation of circadian rhythm and increased metabolic flexibility. Integrating these dietary strategies may produce additive benefits, mediated by reduced visceral adiposity and beneficial shifts in gut microbiota composition. However, potential barriers to concurrent implementation of these interventions may exist, including social challenges, scheduling constraints, and tolerance. Prospective trials are needed to examine their acceptability and clinical effects.

Prevalence of mental disorders in closed educational centers in France.

INTRODUCTION: Closed educational centres (CEC) receive young offenders who most often have a conduct disorder (CD). Mental disorders other than conduct disorder are a negative factor in the effect of educational actions. Moreover, adverse life experiences are frequent vulnerability factors in this population. This article aims to document the prevalence and links between psychiatric disorders, exposure to trauma, and the psycho-behavioural characteristics of adolescents placed in CEC. METHOD: We conducted a multicentre epidemiological study on a sample of 101 adolescents placed in nine closed educational centres in France. Psychiatric disorders were measured by the MINI-KID 2 and Conners Rating Scale questionnaires. Several questionnaires were used to collect sociodemographic data and the psychological profile of each adolescent. RESULTS: Among the adolescents, 90.2% had at least one mental disorder with a predominance of conduct disorder (80%). Comorbidity was also frequently found: among the subjects with conduct disorder, 37% had at least one other psychiatric disorder. Interestingly, the intensity of conduct disorder and the Adverse Childhood Experiences (ACE) score were significantly correlated. Furthermore, two subgroups were identified: adolescents with isolated conduct disorder (44.6%) and adolescents with other psychiatric disorders (45.7%) with or without conduct disorder. The latter subgroup showed higher vulnerability and poorer outcomes in terms of attachment patterns, feelings of abandonment, hostility and impulsivity. CONCLUSION: This study is the first French epidemiological study of mental disorders in juvenile offenders. It suggests that the detection of psychiatric disorders in young people in CEC is an important prerequisite for the implementation of targeted interventions according to different profiles. Furthermore, collaboration between the medical-psychological and judicial fields, in the form of an operational partnership, is necessary to guarantee better support for these young people.

[State of play of adolescent-adult transition platforms]. / États des lieux des plateformes de transition ado-adulte.

Transition support is an integral part of the care of adolescents in clinical services. To avoid disruptions in the care pathway, transition spaces in pediatric and adult hospitals are emerging. There are currently fifteen in France. The professionals working there and the tools and methods used are heterogeneous, but with a common challenge which is the reduction of the major risk of disruption of the care pathway and support for the life course.

[Changes in autonomy and attachment to parents and caregivers during transition to adult services]. / Évolution de l'autonomie et de l'attachement aux parents et aux soignants au cours de la transition en service d'adultes.

The transition from pediatric to adult care is a risky period in the care of a child or adolescent with a chronic illness. This pivotal stage is also part of an evolutionary process of individuation and empowerment that is both global and specific. The security felt, both in relationships with parents and caregivers, is fundamental to these processes. It is this security that will enable the young person to develop nuanced, flexible strategies for adjusting to the different kinds of changes he will have to face in his situation as a patient and, more broadly, in his daily life. Enrolled in multiple networks of relationships, yet autonomous, he or she will become an agent of his or her own life, of which medical care is one aspect.

Case report: A simple and reliable approach for progressive internal distraction of the sternum for Jeune syndrome (asphyxiating thoracic dystrophy): preliminary experience and literature review of surgical techniques.

Background: Described for the first time in 1954, Jeune syndrome (JS), often called asphyxiating thoracic dystrophy, is a congenital musculoskeletal disease characterized by short ribs, a narrow thorax, and small limbs. In this study, we analyzed and presented our preliminary experience with a device for progressive internal distraction of the sternum (PIDS) in patients with symptomatic JS. In addition, we reviewed the contemporary English literature on existing surgical techniques for treating children with congenital JS. Material and methods: A retrospective analysis of pediatric patients (<18 years old) treated for symptomatic JS at our tertiary center between 2017 and 2023 was performed. Results: We presented two patients with JS who underwent surgery using an internal sternal distractor, a Zurich II Micro Zurich Modular Distractor, placed at the corpus of the sternum among the divided halves. Conclusions: We obtained promising results regarding the safety and effectiveness of this less-invasive device for PIDS in patients with symptomatic JS. Further studies on long-term outcomes are needed to validate these findings.

Une approche d'affirmation pour les soins aux jeunes transgenres et de diverses identités de genre.

Un nombre croissant de jeunes s'identifient comme transgenres ou de diverses identités de genre. De nombreux pédiatres et dispensateurs de soins de première ligne accueilleront cette population dans leur pratique, dans le cadre de soins liés au genre ou de soins de santé généraux. Le présent document de principes se veut une ressource pour orienter les pédiatres et les dispensateurs de soins de première ligne à adopter une approche d'affirmation pour la prestation des soins réguliers à tous les jeunes. De plus, il contient de l'information visant à aider les dispensateurs à répondre aux demandes de conseils des jeunes transgenres et de diverses identités de genre et de leur famille au sujet des possibilités de transition médicale et d'orientation vers des services spécialisés s'ils le désirent et le jugent pertinent. Enfin, on anticipe que la demande de soins d'affirmation de genre continue d'augmenter, et certains dispensateurs de soins peuvent souhaiter acquérir les connaissances et les habiletés nécessaires pour amorcer les inhibiteurs d'hormones et les hormones d'affirmation de genre chez les adolescents. Le présent document ne contient pas de directives cliniques, mais de l'information fondamentale au sujet des divers éléments possibles des soins d'affirmation de genre, tout en reconnaissant que les besoins et les objectifs d'adolescents particuliers n'incluent pas automatiquement de telles interventions. D'autres ressources permettant d'acquérir les compétences nécessaires pour offrir des interventions d'affirmation de genre sont également proposées.

[Care pathways for young transgender people]. / Parcours de soins des jeunes personnes transgenres.

Gender incongruence corresponds to the mismatch between gender identity and gender/sex assigned at birth gender/sex assigned at birth. It can be accompanied by psychological distress. In line with the literature, an increase in consultations for gender incongruence has been observed, especially among young people. Multidisciplinary care should be offered to this population; here we provide an example of healthcare proposed at the university hospital of Nancy.

Predictive factors for the outcome of emotional and/or behavioural disorders in 18- to 48-month-old children after parent-child psychotherapy: Protocol of a European prospective cohort study.

OBJECTIVES: Several studies have shown that in young children, behavioural and/or emotional disorders are more difficult to manage than regulatory disorders. Moreover, data are lacking on outcome predictive factors. This article presents a short synthesis of previous research about outcome predictive factors in child psychiatry. It also describes the protocol of a longitudinal observational European multicentre study the main objective of which was to identify predictive factors of behavioural and emotional disorder outcome in toddlers after parent-child psychotherapy. The secondary objectives were to study predictive factors of the outcome in parents (anxiety/depression symptoms) and parent-child relationship. METHOD: In order to highlight medium-effect size, 255 toddlers (age: 18 to 48 months) needed to be included. Outcomes will be assessed by comparing the pre- and post-therapy scores of a battery of questionnaires that assess the child's symptoms, the parents' anxiety/depression, and the parent-child relationship. Multivariate linear regression analysis will be used to identify predictive factors of the outcome among the studied variables (child age and sex, socio-economic status, life events, disorder type, intensity and duration, social support, parents' psychopathology, parents' attachment, parent-child relationships, therapy length and frequency, father's involvement in the therapy, and therapeutic alliance). EXPECTED RESULTS AND CONCLUSION: This study should allow identifying some of the factors that contribute to the outcome of externalizing and internalizing disorders, and distinguishing between pre-existing and treatment-related variables. It should also help to identify children at higher risk of poor outcome who require special vigilance on the part of the therapist. It should confirm the importance of therapeutic alliance. TRIAL REGISTRATION: ID-RCB 2008-A01088-47.

Adaptation of the working alliance inventory to therapeutic interventions for early-age regulatory and behavioral symptoms: French versions of the infant-toddler WAI for parents and therapists.

OBJECTIVES: The therapeutic alliance, an essential component of the therapeutic process, has been investigated in adult and child therapy, but studies in the context of parent-infant or parent-toddler therapeutic interventions are scarce. This monocentric study aims to produce a French cross-cultural adaptation of a therapeutic alliance scale for the context of early consultations in a child and psychiatry department. METHOD: Fifty-five young children aged 3 to 30 months consulting for regulation or behavioral disorders and their mothers were included in the study. The working alliance inventory (WAI) was translated into French by two bilingual translators and adapted to early-age consultations in parent and therapist versions. Assessments of the child's symptoms and the parents' anxiety and depression were carried out at the start and end of therapy. We studied the association of the alliance with the initial clinical characteristics and with the outcome of the child and the mother. An exploratory factor analysis was performed considering the items most associated with expected outcomes. RESULTS: The alliance coded by the mother was lower in case of child behavioral problems and was associated with the mother and child outcome. Short versions of the infant-toddler WAI were developed based on factor analysis, highlighting four factors: positive goals and tasks, bond with the mother, alliance with the child, negative experience of care relationship. DISCUSSION: Results were similar to those found in therapy with adults or older children. The alliance issue in mother-baby therapies was as essential as in other therapy contexts. The short Infant-Toddler WAI resulting from this work must be validated in future studies.

[Characteristics of radiotherapy for adolescents and young adults]. / Caractéristiques de la radiothérapie chez les adolescents et les jeunes adultes.

Radiotherapy for adolescents and young adults is complex in several aspects. The population is very heterogeneous and has characteristics derived from both paediatric and adult populations both in terms of pathology (anatomical pathology, response to treatment) and the patient's physical, biological and psychological characteristics. This article reviews the characteristics to be taken into account in adolescent and young adult patients radiotherapy and more particularly in some of the most common diseases.

A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report.

We report a Chinese patient with JATD presenting a mild skeletal phenotype and with renal insufficiency as the initial symptom of the disease. A novel homozygous c.2789C>T (p.S930L) variant in the WDR60 gene was identified. Our report will help to improve awareness and diagnosability for this disease.

Factors Associated With Sleep Disturbance Amongst Youth With Bipolar Disorder.

Background: While sleep disturbances and their impact on functioning are well-established in adults with bipolar disorder (BD), little is known about this topic in youth. Objective: This study investigates the prevalence and correlates of sleep disturbance among youth with BD. Methods: The study included 103 youth (72 BD, 31 healthy controls [HC]), ages 14-20 years. Study measures included a semi-structured diagnostic interview and the Pittsburgh Sleep Quality Index (PSQI). PSQI yields a global score and 7 subscale scores. Analyses examined between group differences in PSQI scores, and correlates of PSQI within BD. Results: BD youth had significantly higher (worse) global sleep scores, and higher scores on 5/7 subscales (quality, latency, disturbance, sleep medication use, daytime dysfunction). In univariate analyses, poorer sleep quality was associated with higher lifetime and current depression severity, mixed mood state, self-reported affective lability, and borderline personality traits. Lifetime lithium treatment and euthymic mood state were associated with better sleep scores. In multivariate analyses, greater current depression severity and self-reported affective lability were most robustly associated with poor sleep quality. Conclusions: Converging with data from adults, present findings indicate greater sleep disturbance among youth with BD versus HC. Also convergent with adults with BD, mood disturbance, whether depression severity or emotional lability, comprised the predominant correlates of sleep disturbance among youth with BD. Future research is warranted to better understand the temporal association between sleep disturbance and its correlates in youth with BD. Relatedly, interventions that address both mood and sleep disturbances may help improve overall functioning.

Contexte: Bien que les perturbations du sommeil et leur effet sur le fonctionnement soient bien établies chez les adultes souffrant du trouble bipolaire (TB). Nous en savons peu à ce sujet chez les jeunes. Objectif: La présente étude investigue la prévalence et les corrélats de la perturbation du sommeil chez les jeunes souffrant du TB. Méthodes: L'étude comprenait 103 jeunes (72 TB, 31 témoins en santé [TS]), âgés de 14 à 20 ans. Les mesures de l'étude étaient notamment une entrevue diagnostique semi-structurée et l'Index de Qualité du Sommeil de Pittsburgh (IQSP). L'IQSP donne un score global et 7 scores de sous-échelles. Les analyses ont examiné entre les différences de groupes dans les scores IQSP, et les corrélats d'IQSP dans le TB. Résultats: Les jeunes souffrant de TB avaient des scores de sommeil globaux significativement plus élevés (pires), et des scores plus élevés à 5/7 sous-échelles (qualité, latence, perturbation, utilisation de médicament pour dormir, dysfonction diurne). Dans les analyses univariées, la mauvaise qualité du sommeil était associée à la gravité de la dépression de durée de vie et actuelle, à l'état de l'humeur mixte, à la labilité affective auto-déclarée, et aux traits de la personnalité limite. Le traitement au lithium de durée de vie et l'état de l'humeur euthymique étaient associés avec de meilleurs scores de sommeil. Dans les analyses multivariées, une plus grande gravité de la dépression actuelle et de la labilité affective auto-déclarée étaient très robustement associées à une mauvaise qualité du sommeil. Conclusions: Convergeant avec les données des adultes, les résultats actuels indiquent une plus grande perturbation du sommeil chez les jeunes souffrant du TB contre les TS. Convergeant également avec les adultes souffrant de TB, la perturbation de l'humeur, que ce soit par la gravité de la dépression ou la labilité émotionnelle, comprenait les corrélats prédominants de la perturbation du sommeil chez les jeunes souffrant de TB. La future recherche est justifiée pour mieux comprendre l'association temporelle entre la perturbation du sommeil et ses corrélats chez les jeunes souffrant du TB. Étant liées, les interventions qui abordent l'humeur et les perturbations du sommeil peuvent aider à améliorer le fonctionnement général.

[Acute coronary syndrome and cannabis use: a retrospective cohort study]. / Syndrome coronarien aigu et consommation de cannabis ; étude monocentrique rétrospective au Centre Hospitalier de Troyes.

INTRODUCTION: Acute coronary syndrome (ACS) is the usual clinical entry point for coronary heart disease. France is the European country with the highest prevalence of cannabis use and an increase in serious cardiovascular complications, including infarction, related to cannabis. The main objective was to compare the clinical and cardiological profile of patients with ACS according to exposure to cannabis use. POPULATION AND METHODS: We conducted a retrospective, single-centre, exposure-non-exposure cohort study of all adult patients (> 18 years) admitted for ACS in the ICU between January 1, 2012 and December 31, 2021 at the Centre Hospitalier de Troyes, with mention of cannabis use in the medical record. A matching was performed so that each patient identified in the exposed group was associated with a comparable unexposed patient on age, sex, period of hospitalisation and cardiovascular event typology (type of ACS and topography for ST+). RESULTS: 2745 patients admitted to the ICU and the coronary angiography room presented an ST+ or ST- ACS from 01/01/2012 to 31/12/2021 at the CHT. For 31 patients of them (1.1%), we noted cannabis consumption, which concern 7,9% of SCA ST+ aged under 50. DISCUSSION: The link between cannabis use and ACS is established, but studies concerning the place of cannabis in the ACS pathway of an ICU are few in France. Our results show the interest of developing a specific pathway focused on the needs of patients and their specificities in post ACS management.

[Early onset of small cell carcinom of the lung in a young patient in Benin]. / Survenue précoce d'un carcinome bronchique à petites cellules chez un sujet jeune au Bénin.

Context Bronchial cancer in a person under 30 years of age is quite rare. It generally occurs after 40 years of age following heavy smoking intoxication. We report a clinical case illustrating the early onset of a small cell lung carcinoma in young heavy smoker. CASE REPORT: A 30-year-old patient, current smoker for about 10 years (15 packs/year), consulted for a cough with haemoptotic sputum. Clinical and paraclinical examinations diagnosed small cell carcinoma of the right lung with some controlatéral metastatic nodules. . He was classified as stage T2bN2M1a. Unfortunately, due to lack of financial accessibility to suitable chemotherapy, the patient died after one month. CONCLUSION: Early-onset of bronchial carcinoma in young smokers calls for strengthened control of teenage tobacco use, especially in Africa, where the phenomenon has been taking on alarming proportions.

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.

Meier−Gorlin syndrome (MGS) is a rare genetic developmental disorder that causes primordial proportional dwarfism, microtia, the absence of or hypoplastic patellae and other skeletal anomalies. Skeletal symptoms overlapping with other syndromes make MGS difficult to diagnose clinically. We describe a 3-year-old boy with short stature, recurrent respiratory infections, short-rib dysplasia, tower head and facial dysmorphisms who was admitted to the Tomsk Genetic Clinic to verify a clinical diagnosis of Jeune syndrome. Clinical exome sequencing revealed two variants (compound heterozygosity) in the ORC6 gene: c.2T>C(p.Met1Thr) and c.449+5G>A. In silico analysis showed the pathogenicity of these two mutations and predicted a decrease in donor splicing site strength for c.449+5G>A. An in vitro minigene assay indicated that variant c.449+5G>A causes complete skipping of exon 4 in the ORC6 gene. The parents requested urgent prenatal testing for MGS for the next pregnancy, but it ended in a miscarriage. Our results may help prevent MGS misdiagnosis in the future. We also performed in silico and functional analyses of ORC6 mutations and developed a restriction fragment length polymorphism and haplotype-based short-tandem-repeat assay for prenatal genetic testing for MGS. These findings should elucidate MGS etiology and improve the quality of genetic counselling for affected families.

Appel à l'action : des recommandations pour améliorer la transition des jeunes ayant des besoins de santé complexes vers les soins aux adultes.

Les jeunes qui ont des besoins de santé complexes, définis comme ceux qui nécessitent des soins et services spécialisés en raison d'affections physiques, développementales ou mentales, sont souvent traités par des pédiatres et autres spécialistes en pédiatrie. Au Canada, l'âge auquel les bailleurs de fonds provinciaux et territoriaux exigent le transfert des soins pédiatriques aux soins pour adultes varie entre 16 et 19 ans. La délimitation actuelle entre les services de santé pédiatriques et aux adultes est fragmentaire, ce qui entrave la continuité des soins pendant une période déjà vulnérable du développement. Le peu d'intégration des soins entre les domaines peut nuire à l'engagement des jeunes en matière de santé et compromettre leur santé à l'âge adulte. Pour renverser ces obstacles et améliorer les résultats de la transition, les dispensateurs de soins pédiatriques et de soins aux adultes, de même que les médecins de famille et d'autres partenaires communautaires, doivent collaborer de manière satisfaisante à l'élaboration de stratégies systémiques qui rationalisent et préservent les soins aux jeunes en transition vers des soins aux adultes en milieu tertiaire, communautaire et primaire. Il est recommandé de privilégier des limites d'âge flexibles pour effectuer cette transition vers les soins aux adultes et de tenir compte de la phase de développement et de l'aptitude de chaque jeune, ainsi que des besoins et de la situation de chaque patient et de chaque famille. Une formation et un enseignement spécialisés sur les enjeux liés aux soins de transition s'imposent pour renforcer les capacités et s'assurer que les professionnels de la santé des diverses disciplines et des divers milieux soient mieux outillés pour accepter et traiter les jeunes qui ont des besoins de santé complexes.

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.

Skeletal dysplasias (SDs) are a large, heterogeneous group of mostly genetic disorders that affect the bones and cartilage, resulting in abnormal growth and development of skeletal structures. The high clinical and genetic diversity in SDs cause difficulties in prenatal diagnosis. To establish a correct prognosis and better management, it is very important to distinguish SDs with poor life-limiting prognosis or lethal SDs from other ones. Bad prognosis in foetuses is assessed on the basis of the size of the thorax, lung volumes, long bones' length, bones' echogenicity, bones' angulation or presented fractures, and the concomitant presence of non-immune hydrops or visceral abnormalities. To confirm SD diagnosis and perform family genetic consultation, rapid molecular diagnostics are needed; therefore, the NGS method using a panel of genes corresponding to SD or whole-exome sequencing (WES) is commonly used. We report a case of a foetus showing long bones' shortening and a narrow chest with short ribs, diagnosed prenatally with asphyxiating thoracic dystrophy, also known as Jeune syndrome (ATD; OMIM 208500), caused by compound heterozygous variants in the DYNC2H1 gene, identified by prenatally performed rapid-WES analysis. The missense variants in the DYNC2H1 gene were inherited from the mother (c.7289T>C; p.Ile2430Thr) and from the father (c.12716T>G; p.Leu4239Arg). The DYNC2H1 gene is one of at least 17 ATD-associated genes. This disorder belongs to the ninth group of SD, ciliopathies with major skeletal involvement. An extremely narrow, bell-shaped chest, and abnormalities of the kidneys, liver, and retinas were observed in most cases of ATD. Next to lethal and severe forms, clinically mild forms have also been reported. A diagnosis of ATD is important to establish the prognosis and management for the patient, as well as the recurrence risk for the family.