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.

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.

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.

[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.

Thoracic insufficiency syndrome: Approaches to assessment and management.

Thoracic insufficiency syndrome (TIS) was described in 2003 as the inability of the thorax to support normal respiration or lung growth. TIS includes a broad and disparate group of typically degenerative thoracospinal conditions. Although TIS arises due to a heterogeneous group of disorders and thus its incidence is not well quantified, general approaches to management and treatment exist. Evolving imaging techniques and measurements of health-related quality of life augment tests of pulmonary function to quantify disease burden, longitudinally and pre- and post-intervention. Intervention is primarily via growth-sparing surgery, for which several device options exist, to preserve vertical growth prior to a definitive spinal fusion at skeletal maturity.

Fetal ciliopathies: a retrospective observational single-center study.

PURPOSE: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. METHODS: Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as hyperechogenic kidneys together with polydactyly and/or other skeletal and extraskeletal findings. Cases were compared according to their prenatal findings and outcomes. RESULTS: 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet-Biedl syndrome (BBS, n = 2/36, 5.5%) and Joubert syndrome (n = 1/36, 2.8%). All cases showed abnormalities of the kidneys, most often hyperechogenic parenchyma (n = 26/36, 72.2%), cystic dysplasia (n = 24/36, 66.7%), and/or bilateral kidney enlargement (n = 22/36, 61.1%). Oligohydramnios was mainly present in fetuses with MKS. Polydactyly (n = 18/36), abnormalities of the CNS (n = 25/36), and heart defects (n = 10/36) were associated in 50%, 69.4%, and 27.8%, respectively. CONCLUSION: Prenatal detection of renal abnormalities associated with skeletal or brain abnormalities should raise the suspicion for multisystem ciliopathies. Prenatal ultrasound can help to differentiate between different diseases and pave the way for subsequent targeted genetic testing.

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.

[Atypical depression as a risk factor for obstructive sleep apnea syndrome in young adults]. / La dépression majeure à caractéristique atypique comme facteur de risque du syndrome d'apnées obstructives du sommeil chez le jeune adulte.

OBJECTIVES: In the literature, several studies have investigated the particular relationship between major depression and obstructive sleep apnoea syndrome (OSAS). However, most of these studies have focused primarily on middle-aged to elderly individuals (≥40 years) which means that this problem has been little studied in young adults (<30 years). Nevertheless, in young adults the prevalence of major depression (particularly its atypical subtype) is not negligible, which seems to justify carrying out additional investigations in order to allow a better understanding of the potential role played by major depression in the pathophysiology of OSAS in this particular subpopulation. The aim of this study was therefore to empirically investigate the prevalence of OSAS in young adults and to study the risk of OSAS associated with major depression in this particular subpopulation. METHODS: Polysomnographic and demographic data from 264 young adults were collected from the Erasme Hospital Sleep Laboratory (Brussels, Belgium) database to enable our analyses. During their two-night stay (including a first night of habituation and a night of polysomnography) at the Sleep Laboratory, these individuals underwent a complete somatic assessment (including blood test, electrocardiogram, daytime electroencephalogram and urinalysis), a systematic psychiatric assessment by a unit psychiatrist and an assessment of their complaints related to sleep. These different steps made it possible to systematically diagnose all somatic pathologies, psychiatric disorders according to the diagnostic criteria of the DSM-IV-TR and sleep pathologies according to the diagnostic criteria of the AASM. This allowed the selection of young adults included in our study based on our inclusion and exclusion criteria. Polysomnographic recordings from our Sleep Laboratory were visually scored according to AASM criteria. An obstructive sleep apnoea-hypopnoea index ≥5/hour was used for the diagnosis of OSAS. At the statistical level, in order to allow our analyses, we subdivided our sample of young adults into two groups: a control group without OSAS (n=215) and a patient group with OSAS (n=49). After checking the normal distribution of our data, normally distributed data were analysed with t-tests whereas asymmetrically or dichotomously distributed data were analysed with Wilcoxon tests or Chi2 tests. Univariate regression models were used to study the risk of OSAS associated with major depression (categorized: absent, typical, atypical) in young adults and potential confounding factors. In multivariate regression models, the risk of OSAS associated with major depression (categorized: absent, typical, atypical) in young adults was adjusted only for confounding factors significantly associated with OSAS during univariate analysis. These confounding factors were introduced in a hierarchical manner in the various multivariate regression models constructed. RESULTS: The prevalence of OSAS in our population of young adults was 18.6 %. During univariate analyses, atypical depression [OR 2.51 (95% CI 1.18-5.32), p-value=0.014], male gender [OR 4.53 (95% CI 2.20-9.34), P-value <0.001], presence of snoring [OR 2.51 (95% CI 1.33-4.75), P-value=0.005], presence of at least one cardio-metabolic alteration [OR 2.26 (95% CI 1.19-4.28), P-value=0.012], body mass index>30 kg/m2 [OR 4.55 (95% CI 2.07-10.03), P-value <0.001] and ferritin ≥150 µg/L [OR 3.28 (95% CI 1.69-6.36), P-value<0.001] were associated with increased risk of OSAS in our population of young adults. After adjusting for these major confounding factors associated with OSAS (gender, body mass index, cardio-metabolic alterations, ferritin level, and snoring) in the four models studied, multivariate regression analyses confirmed that unlike typical depression, atypical depression [OR 3.09 (95% CI 1.26-7.54), P-value=0.019] was a risk factor for OSAS in young adults. CONCLUSIONS: In our study, we demonstrated that the prevalence of OSAS was 18.6 % in young adults referred to the Erasme Hospital Sleep Laboratory. In addition, we have shown that unlike typical depression, atypical depression was associated with an increased risk of OSAS in young adults, which seems to justify more systematic research of this pathology in young adults suffering from atypical depression in order to allow the establishment of adapted therapeutic strategies and avoid the negative consequences associated with the co-occurrence of these two pathologies.

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.

A global analysis of IFT-A function reveals specialization for transport of membrane-associated proteins into cilia.

Intraflagellar transport (IFT), which is essential for the formation and function of cilia in most organisms, is the trafficking of IFT trains (i.e. assemblies of IFT particles) that carry cargo within the cilium. Defects in IFT cause several human diseases. IFT trains contain the complexes IFT-A and IFT-B. To dissect the functions of these complexes, we studied a Chlamydomonas mutant that is null for the IFT-A protein IFT140. The mutation had no effect on IFT-B but destabilized IFT-A, preventing flagella assembly. Therefore, IFT-A assembly requires IFT140. Truncated IFT140, which lacks the N-terminal WD repeats of the protein, partially rescued IFT and supported formation of half-length flagella that contained normal levels of IFT-B but greatly reduced amounts of IFT-A. The axonemes of these flagella had normal ultrastructure and, as investigated by SDS-PAGE, normal composition. However, composition of the flagellar 'membrane+matrix' was abnormal. Analysis of the latter fraction by mass spectrometry revealed decreases in small GTPases, lipid-anchored proteins and cell signaling proteins. Thus, IFT-A is specialized for the import of membrane-associated proteins. Abnormal levels of the latter are likely to account for the multiple phenotypes of patients with defects in IFT140.This article has an associated First Person interview with the first author of the paper.

[Specialised educator and socio-cultural animator in a cancer centre]. / Éducateur spécialisé et animateur socioculturel en centre de lutte contre le cancer.

The multidisciplinary teams dedicated to adolescents and young adults in cancer centres include professionals from special education or socio-cultural activities. These two professions are often unknown in the hospital environment. The educational approach implemented and the support offered by these professionals differ in their objectives, but have the common goal of improving the patient's well-being.

Stanniocalcin-1 and -2 effects on glucose and lipid metabolism in white adipose tissue from fed and fasted rats.

Stanniocalcin-1 and -2 belong to a family of molecules that exhibit both paracrine and autocrine effects in mammalian cells. Human stanniocalcin-1 (hSTC-1) is expressed in a wide range of tissues, including white adipose tissue. In fed rats, hSTC-1 increases carbon flux from glucose to lipids in retroperitoneal white adipose tissue. Human stanniocalcin-2 (hSTC-2) is expressed in almost all tissues and regulates various biological processes. The aim of this work was to study the action of hSTC-1 and hSTC-2 in the lipid and glucose metabolism of epididymal white adipose tissue (eWAT) in rats in different nutritional states. This study shows for the first time an opposite effect of hSTC-1 and hSTC-2 on glyceride-glycerol generation from glucose in eWAT of fed rats. hSTC-1 stimulated the storage of triacylglycerol in eWAT in the postprandial period, increasing glucose uptake and glyceride-glycerol generation from 14C-glucose. hSTC-2 decreased triacylglycerol synthesis, reducing glyceride-glycerol generation from 14C-glucose, direct phosphorylation of glycerol, and fatty acid synthesis from 14C-glucose in eWAT of fed rats. However, both hormones increased glucose uptake in fed and fasting states. These findings provide evidence for a direct role of hSTC-1 and hSTC-2 in the regulation of lipid and glucose metabolism in eWAT of rats.

Parenting and toddler self-regulation in low-income families: What does sleep have to do with it?

Toddlerhood is a sensitive period in the development of self-regulation, a set of adaptive skills that are fundamental to mental health and partly shaped by parenting. Healthy sleep is known to be critical for self-regulation; yet, the degree to which child sleep alters interactive child-parent processes remains understudied. This study examines associations between observed parenting and toddler self-regulation, with toddler sleep as a moderator of this association. Toddlers in low-income families (N = 171) and their mothers were videotaped during free play and a self-regulation challenge task; videos were coded for mothers' behavior and affect (free play) and toddlers' self-regulation (challenge task). Mothers reported their child's nighttime sleep duration via questionnaire. Results revealed significant Sleep × Maternal Negative Affect and Sleep × Maternal Negative Control interactions. Children who did not experience negative parenting had good self-regulation regardless of their nighttime sleep duration. For children who did experience negative parenting, self-regulation was intact among those who obtained more nighttime sleep, but significantly poorer among children who were getting less nighttime sleep. Thus, among children who were reported to obtain less nighttime sleep, there were more robust associations between negative parenting and poorer self-regulation than among toddlers who were reported to obtain more sleep.

Los primeros años de la niñez son un período sensible en el desarrollo de la auto-regulación, un grupo de habilidades adaptables que son fundamentales para la salud mental y a las que en parte les da forma la crianza. Es sabido que el dormir bien es esencial para la auto-regulación y, aun así, el nivel al que el sueño del niño altera los procesos interactivos entre progenitor y niño permanece poco estudiado. Este estudio examina las asociaciones entre la crianza observada y la auto-regulación del niño pequeño, tomando como moderador de tal asociación el proceso de dormir del niño pequeño. Se grabó en video a niños pequeños de familias de bajos ingresos (N=171) y sus madres durante una sesión de juego libre y una tarea de auto-regulación que suponía un reto; los videos fueron codificados en cuanto al comportamiento y afecto de las madres (juego libre) y la auto-regulación de los niños pequeños (tarea que suponía reto). Las madres reportaron acerca del sueño nocturno de sus niños por medio de un cuestionario. Los resultados revelaron interacciones significativas en cuanto al dormir y el negativo afecto materno, así como el dormir y el negativo control materno. Los niños que no experimentaron una crianza negativa tenían una buena auto-regulación independientemente de la duración de su sueño nocturno. En el caso de los niños que experimentaron una crianza negativa, la auto-regulación quedó intacta en aquellos que lograban más tiempo nocturno de dormir, pero fue significativamente más pobre en los niños que tenían menos tiempo de sueño nocturno. Por tanto, en el caso de los niños indicados en el reporte con menos tiempo de dormir nocturno, se dieron asociaciones más robustas entre la crianza negativa y una más pobre auto-regulación que entre los niños pequeños indicados en el reporte con más tiempo de dormir.

La petite enfance est une période sensible dans le développement de l'auto-régulation, un ensemble de compétences qui sont fondamentales pour la santé mentale et en partie formées par le parentage. L'on sait qu'un sommeil sain est critique pour l'auto-régulation et pourtant la mesure dans laquelle le sommeil de l'enfant altère les processus interactifs enfant-parent demeure peu étudiée. Cette étude examine les liens entre le parentage observé et l'auto-régulation du petit enfant, le sommeil de l'enfant ayant un effet modérateur dans ce lien. Des jeunes enfants de familles issues de milieux défavorisés (N=171) et leurs mères ont été filmés durant un jeu libre et un exercice de défi d'auto-régulation. Les vidéos ont été codées pour le comportement des mères et l'affect (jeu libre) et l'auto-régulation des jeunes enfants (exercice de défi). Les mères ont fait état de la durée de sommeil nocturne de leur enfant au moyen d'un questionnaire. Les résultats ont révélé que : sommeil significatif x l'affect négatif maternel et le sommeil x négatif maternel contrôle les interactions. Les enfants qui n'avaient pas fait l'expérience d'un parentage négatif avaient une bonne auto-régulation quelle qu'ait été la durée du sommeil nocturne. Pour les enfants ayant fait l'expérience d'une parentage négatif, l'auto-régulation était intacte chez ceux ayant plus dormi, mais bien moindre chez les enfants qui avaient moins dormi. Donc, chez les enfants ayant moins de sommeil nocturne les liens bien plus robustes ont été découverts entre le parentage négatif et une moindre auto-régulation que chez les petits enfants dormant plus durant la nuit.

Early-life risk for domestic violence perpetration: Implications for practice and policy.

Research on risks and causes of domestic violence is hampered by a policy framework that not only does not fund but in some cases suppresses inquiry into those causes. This discussion, then, will be placed in the context of those policy frameworks that hamper and distort inquiry. This includes an overview of ideological, political, and historical issues that have shaped those frameworks. Related explanatory theories and theories of practice are summarized. The article will examine known early-life risk factors for those disorders and behaviors associated with domestic violence perpetration. Particular emphasis will be placed on maltreatment and attachment/bonding processes. Framed in broad perspectives of psychosocial theory, risk factors from related literature sources (e.g. general violence and criminality) will be included where risk profiles are substantially similar.

Early childhood education and crime.

This article presents new evidence on the crime-reducing impacts of a high-quality, intensive early childhood program with long-term follow-up, evaluated by a randomized controlled trial. Proportionately, more women than men decrease their criminal activity after participating in the program. This gender difference arises because of the worse home environments for girls, with corresponding greater scope for improvement by the program. For both genders, treatment effects are larger for the least-advantaged children, as measured by their mother's education at baseline. The dollar value of the social cost of criminal activity averted is higher for men because they commit more costly violent crimes.

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Skeletal dysplasias are a diverse group of rare Mendelian disorders with clinical and genetic heterogeneity. Here, we used targeted copy number variant (CNV) screening and identified intragenic exonic duplications, formed through Alu-Alu fusion events, in two individuals with skeletal dysplasia and negative exome sequencing results. First, we detected a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD) (MIM# 208500). Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples. Complementary zebrafish studies suggested that loss of full-length IFT81 protein but expression of a shorter form of IFT81 protein affects the phenotype while being compatible with life. Second, a de novo tandem duplication of exons 2 to 5 in MATN3 was identified in a girl with multiple epiphyseal dysplasia (MED) type 5 (MIM# 607078). Our data highlights the importance of detection and careful characterization of intragenic duplication CNVs, presenting them as a novel and very rare genetic mechanism in IFT81-related Jeune syndrome and MATN3-related MED.

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Ellis-van Creveld syndrome (EvC) is a chondral and ectodermal dysplasia caused by biallelic mutations in the EVC, EVC2 and WDR35 genes. A proportion of cases with clinical diagnosis of EvC, however, do not carry mutations in these genes. To identify the genetic cause of EvC in a cohort of mutation-negative patients, exome sequencing was undertaken in a family with 3 affected members, and mutation scanning of a panel of clinically and functionally relevant genes was performed in 24 additional subjects with features fitting/overlapping EvC. Compound heterozygosity for the c.2T>C (p.Met1?) and c.662C>T (p.Thr221Ile) variants in DYNC2LI1, which encodes a component of the intraflagellar transport-related dynein-2 complex previously found mutated in other short-rib thoracic dysplasias, was identified in the 3 affected members of the first family. Targeted resequencing detected compound heterozygosity for the same missense variant and a truncating change (p.Val141*) in 2 siblings with EvC from a second family, while a newborn with a more severe phenotype carried 2 DYNC2LI1 truncating variants. Our findings indicate that DYNC2LI1 mutations are associated with a wider clinical spectrum than previously appreciated, including EvC, with the severity of the phenotype likely depending on the extent of defective DYNC2LI1 function.