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Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, lysosomal storage disorder that causes pediatric onset neurodegenerative disease. It is characterized by mutations in the TPP1 gene. Symptoms begin between 2 and 4 years of age with loss of previously acquired motor, cognitive, and language abilities. Cerliponase alfa, a recombinant human TPP1 enzyme, is the only approved therapy. We report the first presymptomatic cerliponase alfa intraventricular treatment in a familial case of CLN2 related to a classical TPP1 variant. Sister 1 presented with motor, cognitive, and language decline and progressive myoclonic epilepsy since the age of 3 years, evolved with severe diffuse encephalopathy, received no specific treatment, and died at 11 years. Sister 2 had a CLN2 presymptomatic diagnosis and has been treated with cerliponase since she was 12 months old. She is now 6 years 8 months and has no CLN2 symptom except one generalized seizure 1 year ago. No serious adverse event has occurred. Repeated Wechsler Preschool and Primary Scale of Intelligence, Fourth Edition standardized index scores are heterogeneous in the extremely low to low average ranges. Mean length of utterances, a global index of sentence complexity, showed a delay, but a gradual improvement. The reported case enhances the major contribution of presymptomatic diagnosis and significant middle‐term treatment benefit for patients with CLN2. [ABSTRACT FROM AUTHOR]

We document and discuss the implications of a striking feature of modern American policing: the stasis of police labor forces. Using an original employment dataset assembled through public records requests, we show that, after the first few years on a job, officers rarely change employers, and intermediate officer ranks are filled almost exclusively through promotion rather than lateral hiring. Policing is like a sports league, if you removed trades and free agency and left only the draft in place. We identify both nonlegal and legal causes of this phenomenon--ranging from geographic monopolies to statutory and collectively bargained rules about pensions, rank, and seniority--and discuss its normative implications. On the one hand, job stability may encourage investment in training and expertise by agencies and officers alike; it may also attract some high-quality candidates, including candidates from underrepresented backgrounds, to the profession. On the other hand, low labor mobility can foster sclerosis in police departments, entrenching old ways of policing. Limited outside options may lead officers to stay in positions that suit them poorly, decreasing morale and productivity and potentially contributing to the scale of policing harms. In turn, the lack of labor mobility makes it all the more important to police officers to retain the jobs they have. This encourages them to insist on extensive labor protections and to enforce norms like the "blue wall of silence," which exacerbate the problem of police misconduct. We suggest reforms designed to confer the advantages of labor mobility while ameliorating its costs. [ABSTRACT FROM AUTHOR]

Cet article propose de passer en revue les changements récents dans les méthodes d'intervention précoce des jeunes enfants avec Trouble du Spectre de l'Autisme. Nous sommes passés de modèles d'interventions intensives, en situations écologiquement non pertinentes, centrées sur les comportements autistiques des enfants, à des interventions moins intensives, au sein de la dyade, en contexte écologique. Elles ciblent l'interaction parent/enfant, notamment la synchronie, la sensibilité parentale, les compétences langagières et la communication sociale de l'enfant. Les différentes techniques de vidéo feed-back, particulièrement pertinentes chez l'enfant autiste, sont détaillées, notamment la VIPP, le PACT et la Thérapie de Guidance Interactive (TGI) avec leur intérêt, leur validité et leurs limites. L'enjeu est de développer ces techniques de manière reproductible et mesurable, tout en respectant la spécificité de chaque dyade. Nous proposons, pour répondre à ces gageures, de développer la TGI, qui répond aux exigences énoncées, et de développer la méthodologie du cas unique afin d'évaluer les effets des interventions précoces chez les enfants avec autisme. This paper aims to review recent changes in the methods of early intervention used in treating young children with Autism Spectrum Disorder. We have transitioned from models of intensive interventions, in ecologically irrelevant situations, that focus on children's autistic behavior, to less intensive dyad-based interventions in ecological contexts. They target parent/child interaction, including synchrony, parental sensitivity, language skills, and the child's social communication. The various video feedback techniques, particularly relevant for autistic children, are detailed, in particular VIPP, PACT, and Interactive Guidance Therapy (IGT) taking into account their interest, validity and limitations. The challenge is to develop these techniques in a reproducible and measurable way, while respecting the specificity of each dyad. To meet these challenges, we propose to develop the IGT model, which meets the stated requirements, and to develop the single-case methodology in order to assess the effects of early interventions on children with autism. [ABSTRACT FROM AUTHOR]

Pain, with its subjective, behavioural and physiological dimension, is part of the regulatory phenomena aimed at homeostasis of an organism. In its acute expression, it triggers a cascade of allostatic systems, resulting in a protective motor response, with its relational function, which attracts the attention of the environment, and includes it in this homeostatic balancing. [ABSTRACT FROM AUTHOR]

How does employer market power affect workers? We compute the concentration of new hires by occupation and commuting zone in France using linked employer-employee data. Using instrumental variables, we find that a 10% increase in labor market concentration decreases hires by 3.2% and their hourly wage by nearly 0.5%, as hypothesized by monopsony theory. Based on a simple merger simulation, we find that a merger between the top two employers in the retail industry would be most damaging, with about 30 million euros in annual loss to the wage bill of new hires, and a 3000 decrease in annual hires. [ABSTRACT FROM AUTHOR]

Aim: To examine how children with sleep-disordered breathing express their own sleep through drawing.Methods: Children hospitalised for a sleep study in a sleep laboratory of a tertiary hospital were asked to draw a human figure and themselves while asleep. Characteristics of the two drawings were analysed and compared along with a descriptive analysis of some drawings.Results: Children with sleep-disordered breathing and an associated disorder, n = 34, age 5-11 years, participated in the study. The size of the human figure, the colours used, the orientation of the sheet, the type of drawing strokes and the objective quality of the drawing were comparable between the two drawings. On the sleep drawing, 71% of the children drew a bed, 15% drew themselves asleep, 19% represented snoring and 12% night elements. Sixty-two per cent of the children preferred the human drawing to the sleep drawing. A descriptive analysis of 12 drawings showed the influence of the associated disorder on the two drawings.Conclusion: This study showed how the associated disease of children with sleep-disordered breathing infiltrated their imaginary life. The sleep drawing gave useful information about representation, fears and wishes in relation to the associated disease and the child's sleeping. [ABSTRACT FROM AUTHOR]

This paper aims at the detection and characterization of partial discharges (PD) in GIS under HVDC constraints in the presence of a protrusion/metallic particle on the high voltage conductor. It is shown that the use of the IEC 60270 standard does not allow for the detection of PDs. For that purpose, a very accurate steady-state current measurement and a high frequency measurement of the current and emitted light associated with the PDs are performed. The results evidence a close correlation between the PD and the steady-state current and light emission. The transition between pulse and pulseless forms of corona discharges is also evidenced. [ABSTRACT FROM AUTHOR]

This Article aims to reorient the conversation around "failure-to-appear" (FTA) in criminal court. Recent policy and scholarship have addressed FTA mostly as a problem of criminal defendants in connection with questions about how bail systems should operate. But ten years of data from Philadelphia reveal a striking fact: it is not defendants who most frequently fail to appear but rather the other parties necessary for a criminal proceeding--witnesses and lawyers. Between 2010 and 2020, an essential witness or private attorney failed to appear for at least one hearing in 53% of all cases, compared to a 19% FTA rate for defendants. Police officers, victims, other witnesses, and private attorneys each failed to appear at rates substantially higher than defendants. In short: FTA is a systemic phenomenon. The systemic nature of FTA calls into question the extreme asymmetry between the treatment of defendant and non-defendant FTA. Bail reform has generated intense debates about when cash bail, detention, and other pretrial interventions are warranted to ensure defendants' appearance. Given that witnesses and lawyers also have a legal duty to appear, the systemic nature of FTA requires more comprehensive thinking about how best to get people to court and when restrictions on liberty are appropriate. Systemic FTA also has systemic consequences, because when essential witnesses don't show, cases are dismissed or withdrawn. FTA thus serves a regulatory function by providing a check on the nature and volume of criminal adjudications. Sometimes this function seems beneficial, as when witness FTA carries information about the strength or worth of the case, but other times it seems like a problem. The sheer volume of police officer FTA creates an impression of arbitrariness, dysfunction, and disrespect. Other aspects of this regulatory dynamic are more ambiguous. For instance, victim FTA rates are so persistently high that many appear to be effectively "opting out" of the criminal proceeding. Does this tell us that certain classes of harm are better dealt with outside of the criminal legal process? Or are we, as a society, losing something valuable when cases are dismissed due to victim or witness nonappearance? More generally, when is witness FTA a problem and when is it a healthy check on the system? This Article aims to draw attention to systemic FTA as an important feature of contemporary U.S. criminal legal systems, identify the core questions that it raises, and lay a path for future research. [ABSTRACT FROM AUTHOR]

Suicide remains one of the leading causes of death among young people, and suicidal ideation and behavior are relatively common in healthy and clinical populations. Suicide risk in childhood and adolescence is often approached from the perspective of nosographic categories to which predictive variables for suicidal acts are often linked. The cascading effects resulting from altered clock genes in a pediatric population could participate in biological rhythm abnormalities and the emergence of suicide attempts through impaired regulation of circadian rhythms and emotional states with neurodevelopmental effects. Also, early trauma and stressful life events can alter the expression of clock genes and contribute to the emergence of suicide attempts. Alteration of clock genes might lead to desynchronized and abnormal circadian rhythms impairing in turn the synchronization between external and internal rhythms and therefore the adaptation of the individual to his/her internal and external environment with the development of psychiatric disorders associated with increased risk for suicide attempts. [ABSTRACT FROM AUTHOR]

Summary This paper aims to describe current questions concerning conversive disorders among children and adolescents. We first describe prevalence and clinical characteristics of these. Many unresolved questions remain. Why do patients show excess, or loss of function? Attachment theory offers a relevant framework to answer this question. Does neurobiology of conversion disorders shed light on conversive processes? Current neurobiological research paradigms focus on the symptom, trying to infer processes, instead of proposing paradigms that test theoretical hypotheses. The most convincing theoretical framework that has already proposed a coherent theory of conversion is a psychodynamic one, which has not yet been tested with neurobiological paradigms. The interest of studying child and adolescent conversive disorders is to provide a means to more deeply investigate the two challenges we face: theoretical, and clinical ones. It provides the opportunity to access a pathopsychological process at its roots, not yet hidden by many defensive, rationalizing attitudes, and to better explore environmental features. We propose a “complementarist” model, which allows the combination of different approaches (neural, cognitive, environmental, attachment, intra-psychic) and permits proposal of different levels of therapeutic targets and means. [ABSTRACT FROM AUTHOR]

West syndrome (WS) is a rare epileptic encephalopathy with early onset and a high risk of autistic outcome. The PréAut grid assesses this risk following WS onset by taking into account synchrony and emotion in interactions and by evaluating the baby's active desire to engage in pleasant interactions (especially the infant's early active behaviors that encourage being gazed at or kissed by the mother or to share joy with her). We followed a sample of 25 WS patients prospectively from disease onset and assessed whether the PréAut grid before 9 months, and the checklist for autism in toddlers (CHAT) at 18 and 24 months predicted autism or intellectual disability (ID) outcomes at 4 years. We found that the PréAut grid at 9 months (sensitivity = 0.83; specificity = 1) had similar prediction parameters as the CHAT at 18 months (sensitivity = 0.90; specificity = 0.83) and 24 months (sensitivity = 0.92; specificity = 1). WS patients with a positive PréAut screening at 9 months had a risk of having autism or ID at 4 years, which is 38 times that of children with a negative PréAut grid [OR = 38.6 (95 % CI 2.2-2961); p = 0.006]. We conclude that the PréAut grid could be a useful tool for the early detection of autism or ID risk in the context of WS. Further research is needed to assess the PréAut grid in other contexts (e.g. infants at high-risk for non-syndromic autism). [ABSTRACT FROM AUTHOR]

BACKGROUND: A distinct velocity pattern represented by a "notch" is observed during the time interval between the end of the systolic and the onset of the early diastolic velocity wave on longitudinal myocardial velocity curve. The origin of the post-systolic velocity notch (PSN) has not been resolved. METHODS: The high frame rate color tissue Doppler imaging of the apical longitudinal axis was performed in 32 healthy subjects. RESULTS: The time delays of the PSN onset at the posterior aortic wall (AW), the mid anteroseptal wall (MAS) and the posterior mitral annulus (MA) relatively to the anterior aortic annulus (AA) were found to be significantly longer than zero (5.1 ± 2.2, 6.0 ± 2.3, 6.8 ± 2.8 ms;p < 0.001). The amplitude was the highest at the AA when compared to the AW, the MAS and the MA (4.77 ± 1.28 vs. 2.88 ± 1.11, 2.15 ± 0.73, 2.44 ± 1.17 cm/s; p < 0.001). A second PSN spike was identifiable in 10/32 (31%) of the studied subjects at the AA. Of these, 9 (28%) exhibited a second PSN spike at the AW, 3 (9%) at the MAS and no one at the MA. CONCLUSION: The AA represents the site of the earliest onset and maximal amplitude of the PSN on the longitudinal velocity curve suggesting its mechanism to be that of an energy release at the instant of the aortic valve closure causing an apically directed acceleration of the myocardium. A substantial number of healthy subjects exhibit a second PSN spike predominantly at the level of the AA. Its mechanism remains to be elucidated. [ABSTRACT FROM AUTHOR]

Summary: Research has shown a high rate of autism spectrum disorders among very low birth weight children over the past decade. This paper proposes a literature review on this topic. Two generations of research have followed one another. The first retrospective studies found a high rate of ASD among premature babies. The second generation of prospective studies underlined and relativized this risk. Prospective research using screening tools (M-CHAT) have found around 20 % ASD, whereas 2 studies assessing the actual diagnosis found 5 % and 8 % ASD, 10 to 12 times more than in the general population. A number of hypotheses have been put forward to explain these high rates of ASD: sensory impairment associated with prematurity, white matter abnormalities, and cerebellar impairment. The authors propose complex models that take into account neurological deficits and the effects of perinatal events on interactive dynamics between infants and their caregivers. These models aim to allow suitable prevention and care for premature children with autism, a heavy additional handicap. [Copyright &y& Elsevier]

Providing abandoned children the necessary medical and psychological care as possible after their institutionalization may minimize developmental delays. We describe psychomotor development in infants admitted to an orphanage in Khartoum, Sudan, assessed at admission and over an 18-month follow-up. Psychological state and psychomotor quotients were determined using a simplified Neonatal Behavior Assessment Scale (NBAS), the Brunet–Lezine and Alarm distress baby (ADBB) scale. From May–September 2005, 151 children were evaluated 2, 4, 9, 12 and 18 months after inclusion. At admission, ∼15% of children ≤1 month had a regulation impairment according to the NBAS, and 33.8% presented a distress state (ADBB score >5). More than 85% (129/151) recovered normal psychomotor development. The results of the program reinforce the importance of early detection of psychological disorders followed by rapid implementation of psychological case management to improve the development of young children in similar institutions and circumstances. [ABSTRACT FROM PUBLISHER]

Abstract: This paper aims to develop the rational to support why and how we should link neuroscience and psychoanalysis. Many of these points are derived from child development and child psychiatry. Neuroscience investigates developmental questions in a different way than psychoanalysis, while psychoanalysis itself has shifted towards new developmental paradigms. The rapprochement between neuroscience and psychoanalysis allows a new understanding of some concepts, including embodiment of mind, consciousness and attachment. The “double reading” paradigm allows a better understanding of symptomatic configurations. Linking neuroscience and psychoanalysis may improve treatments and result in new experimental neuroscientific paradigms involving changing the research object, changing the state of the research object, and investigating the structural changes in the brain following psychotherapy. The last aim is to create an epistemology of the articulation between the theoretical frameworks through phenomenology, “complementarism” and neuropsychoanalysis. We argue that it is necessary for clinicians to be aware of the advancements in each field. This is not only an epistemological question; we assume that new findings in neuroscience will change the way psychoanalysts think and approach treatment of their patients. We hope the present research will contribute to change the way that neuroscientists think and will provide new options to their set of experimental paradigms. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 65 year old male patient who received a DDDR pacemaker for high grade atrioventricular block with recurrent syncope who presented to physicians with sudden onset fatigue which occurred during cycling. A discussion of an electrocardiogram which was conducted on the patient, and of factors which could have led to an apparent pacemaker malfunction in the patient, is presented.

The article focuses on field studies conducted in New York City to evaluate interventions and to make defendants more aware of court information. One of the study was designed to send text messages to show critical court information for defendants leading up to their court appearance. It was estimated that these nudges helped avoid at least 30,000 arrest warrants over 3 year period.

Background: Trimethylaminuria (TMAU) is a metabolic disorder characterized by the excessive excretion of the malodorous compound trimethylamine (TMA). The diagnosis of TMAU is challenging because this disorder is situated at the boundary between biochemistry and psychiatry. Here, we used nuclear magnetic resonance spectroscopy to assess TMAU in 13 patients. We also sequenced the FMO3 gene in 11 of these patients. Treatment with vitamin B2 was prescribed.Results: Two patients (aged 3 and 9 years at the initial consultation) had a particularly unpleasant body odor, as assessed by their parents and the attending physicians. The presence of high urine TMA levels confirmed the presence of a metabolic disorder. The two (unrelated) children carried compound heterozygous variants in the FMO3 gene. In both cases, vitamin B2 administration decreased TMA excretion and reduced body odor. The 11 adults complained of an unpleasant body odor, but the physicians did not confirm this. In all adult patients, the urine TMA level was within the normal range reported for control (non-affected) subjects, although two of the patients displayed an abnormally high proportion of oxidized TMA. Seven of the 9 tested adult patients had a hypomorphic variant of the FMO3 gene; the variant was found in the homozygous state, in the heterozygous state or combined with another hypomorphic variant. All 11 adults presented a particular psychological or psychiatric phenotype, with a subjective perception of unpleasant odor.Conclusions: The results present the clinical and biochemical data of patients complaining of unpleasant body odor. Contrary to adult patients, the two children exhibited all criteria of recessively inherited trimethylaminuria, suspected by parents in infancy. B2 vitamin treatment dramatically improved the unpleasant body odor and the ratio of TMA/Cr vs TMAO/Cr in the urine in the children. Other patients presented a particular psychological or psychiatric phenotype. [ABSTRACT FROM AUTHOR]

Objective: To study longitudinal changes in tuber and whole-brain perfusion in children with tuberous sclerosis complex (TSC) using arterial spin labeling (ASL) perfusion MRI and correlate them with pathological EEG slow wave activity and neurodevelopmental outcomes. Methods: Retrospective longitudinal cohort study of 13 children with TSC, 3 to 6 serial ASL-MRI scans between 2 months and 7 years of age (53 scans in total), and an EEG examination performed within 2 months of the last MRI. Tuber cerebral blood flow (CBF) values were calculated in tuber segmentation masks, and tuber:cortical CBF ratios were used to study tuber perfusion. Logistic regression analysis was performed to identify which initial tuber characteristics (CBF value, volume, location) in the first MRI predicted tubers subsequently associated with EEG slow waves. Whole-brain and lobar CBF values were extracted for all patient scans and age-matched controls. CBF ratios were compared in patients and controls to study longitudinal changes in whole-brain CBF. Results: Perfusion was reduced in tubers associated with EEG slow waves compared with other tubers. Low tuber CBF values around 6 months of age and large tuber volumes were predictive of tubers subsequently associated with EEG slow waves. Patients with severe developmental delay had more severe whole-brain hypoperfusion than those with no/mild delay, which became apparent after 2 years of age and were not associated with a higher tuber load. Conclusions: Dynamic changes in tuber and brain perfusion occur over time. Perfusion is significantly reduced in tubers associated with EEG slow waves. Whole-brain perfusion is significantly reduced in patients with severe delay. Key Points: • Tubers associated with EEG slow wave activity were significantly more hypoperfused than other tubers, especially after 1 year of age. • Larger and more hypoperfused tubers at 6 months of age were more likely to subsequently be associated with pathological EEG slow wave activity. • Patients with severe developmental delay had more extensive and severe global hypoperfusion than those without developmental delay. [ABSTRACT FROM AUTHOR]

Maternal input addressed to children after an early hospitalization (EH) was longitudinally compared to maternal input directed to typically developing children (TD), at 6, 9, 12, 18 and 24 months of age. The data were analyzed with the CHILDES tools for (a) word-tokens (b) word-types (c) Mean Length of Utterances (MLU) and (d) questions in which the mothers request a response or a turn. Nonsignificant differences between groups were found. Only questions were significantly higher for EH mothers than for TD mothers across the five sessions. Lexical Correspondence Analysis (LCA) on these two datasets show qualitative differences between the two groups. Depression and anxiety at 12 months and children attachment behaviour assessed at 18 months do not play a role from EH mothers. These findings suggest that EH mothers have a specific conversational style encouraging their infants and toddlers to request salient information or to perform an action. [ABSTRACT FROM AUTHOR]

The role of catheter ablation in elderly patients with atrial fibrillation (AF) is unclear. Pulsed field ablation (PFA) demonstrates a favorable clinical profile, however, data on elderly patients are lacking. We aimed to assess the safety and efficacy of PFA in the elderly, using data from the EU-PORIA registry. Periprocedural complications and long-term safety and efficacy outcomes of AF ablation using the pentaspline PFA catheter (Farapulse™) were compared between patients older than 80 years old and their younger counterparts, across seven European centers. Among the 1233 patients in the registry, 88 (7.1 %) were older than 80 years. Elderly patients were more often females (51.1 % vs 37.8 %, p = 0.01) with a lower median BMI (26.0, IQR:23.5–29.2 vs 26.9, IQR:24.4–30.4 kg/m2, p = 0.02), a higher median CHA 2 DS 2 -VASc score (4, IQR:3–5 vs 2, IQR:1–3, p < 0.001) and a higher incidence of hypertension (73.9 % vs 52.7 %, p < 0.001). In both groups, most patients had paroxysmal AF (58.0 % vs 60.3 %, p = 0.65). Ablation in the elderly was more frequently performed with minimally interrupted anticoagulation (87.5 % vs 59.7 %, p < 0.001). Despite comparable rates of overall complications (5.7 % vs 3.5 %, p = 0.29), elderly patients had a higher incidence of stroke (2.3 % vs 0.3 %, p = 0.04). At 12 months, major adverse clinical events (4.5 % vs. 2.1 %, p = 0.12) and arrhythmia-free survival (70 % vs 74 %, p = 0.69) were comparable in both groups. None of the recurrence-free elderly patients were on antiarrhythmic drugs at the end of follow-up. In this real-world cohort, the efficacy of PFA for AF was similar in elderly and younger patients. Despite comparable complication rates, a higher incidence of stroke was observed in the elderly. [Display omitted] • The role of catheter ablation in octogenarians is unclear and only a paucity of data is available concerning safety and efficacy of Pulsed-Field Ablation in this population. • In this sub-analysis of the EU-PORIA registry, overall procedural complications were comparable in patients over 80 years old undergoing pulsed field ablation for atrial fibrillation and their younger counterparts. However, elderly patients exhibited a higher incidence of periprocedural stroke. • At 12 months, arrhythmia-free survival was similar in elderly and younger patients. • Age ≥ 80 years was not associated with increased overall complications, major adverse clinical events, or arrhythmia recurrences. [ABSTRACT FROM AUTHOR]

Aim: The aim of the study was to assess the emotional and behavioural functioning of siblings of children treated with long term non‐invasive ventilation (NIV). Methods: Parents of children treated with NIV completed the Child Behaviour Checklist and a qualitative questionnaire for each sibling, aged 1.5–18 years old. Results: The parents of 49 ventilated children were questioned about 79 siblings. For the siblings aged 1.5–5, mean total T score was 57 ± 22 (range 28–92), and five siblings (31%) were in the clinical range. For the siblings aged 6–18, mean total T score was 49 ± 12 (range 26–71), and six siblings (10%) were in the clinical range. Siblings felt responsible for their affected sibling (31%) and involved with his/her illness (52%), with 31% being worried about him/her. A change in behaviour was observed in 19% of the siblings since the initiation of NIV; 26% were impacted by the use of the NIV device. Conclusions: The majority of siblings of children treated with NIV do not present significant emotional and behavioural problems. They feel deeply responsible for their affected sibling and involved in his/her illness and treatment, highlighting the importance to involve the siblings in the care of the affected child. [ABSTRACT FROM AUTHOR]

La guidance interactive est une technique de psychothérapie parent–enfant. Initialement développée par Susan Mc Donough aux États-Unis, pour soutenir l'alliance auprès des parents en grandes difficultés. Elle a ensuite montré sont efficacité auprès de dyades dont les bébés présentaient des troubles fonctionnels du nourrisson, dans l'étude Princeps du Geneva Group. Cette technique choisit comme porte d'entrée dans l'interaction parent–enfant, la dimension interpersonnelle, et la lecture des comportements interactifs, pour ensuite aborder les pensées et cognitions et les émotions en lien avec le symptôme de l'enfant ou de la dyade. Le visionnement de séquences de jeu libre est au cœur du dispositif thérapeutique, permettant une co-construction de la lecture de l'interaction, entre le thérapeute et le parent concerné. Nous proposons une description des grands principes de cette technique et son illustration par deux cas cliniques. Le premier décrit une interaction dont la lecture fut un moment clé dans une thérapie mère–bébé auprès d'une patiente présentant une dépression périnatale. Le second illustre la création d'une alliance thérapeutique forte, dans une situation de parentalité à haut risque, par la description et soutien des compétences parentales à travers le visionnement de moments positifs de l'interaction. Ces situations illustrent le processus thérapeutique et les liens qui se font entre la symptomatologie maternelle et la synchronie de l'interaction. Nous discuterons cette technique au regard d'autres interventions utilisant le vidéo feed-back. Interactive guidance is a parent-child psychotherapy technique, which was initially developed by Susan Mc Donough in the United States to support parental alliance in high-risk families. Later the Geneva Group Study showed its effectiveness in dyads whose babies had functional disorders. This technique chooses as a gateway in the parent–child interaction the interpersonal dimension, and the reading of the Interactive behaviors, to then approach thoughts, cognitions, and emotions related to the symptom of the child or of the dyad. The viewing of free play sequences is at the heart of the therapeutic device allowing a co-construction of the interaction reading between the therapist and the concerned parent. We propose a main principles description of this technique and its illustration by two clinical cases. The first one describes an interaction whose reading was a key moment in a mother–baby therapy with a mother suffering from perinatal depression. The second illustrates the creation of a strong therapeutic alliance in a situation of high-risk parenting through the description and support of parenting skills by means of viewing positive moments of interaction. These situations illustrate the therapeutic process and the links that arise between the maternal symptomatology and the synchrony of the interaction. We will discuss this technique in conceptual contrast to some other interventions using video feedback. [ABSTRACT FROM AUTHOR]

Infant-directed speech (IDS) is part of an interactive loop that plays an important role in infants' cognitive and social development. The use of IDS is universal and is composed of linguistic and emotional components. However, whether the emotional component has similar acoustics characteristics has not been studied automatically. We performed a cross-cultural study using automatic social signal processing techniques (SSP) to compare IDS across languages. Our speech corpus consisted of audio-recorded vocalizations from parents during interactions with their infant between the ages of 4 and 18 months. It included 6 databases of five languages: English, French, Hebrew (two databases: mothers/fathers), Italian, and Brazilian Portuguese. We used an automatic classifier that exploits the acoustic characteristics of speech and machine learning methods (Support Vector Machines, SVM) to distinguish emotional IDS and non-emotional IDS. Automated classification of emotional IDS was possible for all languages and speakers (father and mother). The uni-language condition (classifier trained and tested in the same language) produced moderate to excellent classification results, all of which were significantly different from chance (P < 1 × 10−10). More interestingly, the cross-over condition (IDS classifier trained in one language and tested in another language) produced classification results that were all significantly different from chance (P < 1 × 10−10). The automated classification of emotional and non-emotional components of IDS is possible based on the acoustic characteristics regardless of the language. The results found in the cross-over condition support the hypothesis that the emotional component shares similar acoustic characteristics across languages. [ABSTRACT FROM AUTHOR]

Aim: We evaluated the impact that having a child with sleep-disordered breathing had on their parents, including their own sleep quality.Methods: Questionnaires were completed by 96 parents of 86 children referred for a sleep study or control of continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) at the sleep laboratory of the Necker Hospital, Paris, France, between October 2015 and January 2016. The questionnaires evaluated anxiety and depression, family functioning, the parents' quality of life, daytime sleepiness and sleep quality.Results: The children had a mean age of seven ±five years and most of the responses (79%) came from their mothers. These showed that 26% of parents showed moderate-to-severe anxiety, 8% moderate-to-severe depression, 6% complex family cohesion, 59% moderate-to-severe daytime sleepiness and 54% poor sleep quality. Anxiety was higher in mothers than in fathers (p < 0.001). The questionnaire scores did not differ according to the child's age, the results of the sleep studies or the CPAP or NIV treatment. The symptoms seem to be more commonly related to the child's underlying disease than their sleep-disordered breathing.Conclusion: The parents of children referred to a sleep laboratory reported frequent anxiety, daytime sleepiness and poor sleep quality. [ABSTRACT FROM AUTHOR]

This is the second of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper addresses the outcome for some particularly challenging childhood-onset epileptic disorders with the goal of recommending the best approach to transition. We have grouped these disorders in five categories with a few examples for each. The first group includes disorders presenting in childhood that may have late- or adult-onset epilepsy (metabolic and mitochondrial disorders). The second group includes disorders with changing problems in adulthood (tuberous sclerosis complex, Rett syndrome, Dravet syndrome, and autism). A third group includes epilepsies that change with age (Childhood Absence Epilepsy, Juvenile Myoclonic Epilepsy, West Syndrome, and Lennox-Gastaut syndrome). A fourth group consists of epilepsies that vary in symptoms and severity depending on the age of onset (autoimmune encephalitis, Rasmussen's syndrome). A fifth group has epilepsy from structural causes that are less likely to evolve in adulthood. Finally we have included a discussion about the risk of later adulthood cerebrovascular disease and dementia following childhood-onset epilepsy. A detailed knowledge of each of these disorders should assist the process of transition to be certain that attention is paid to the most important age-related symptoms and concerns. [ABSTRACT FROM AUTHOR]

Introduction Autism features and various degrees of cognitive deficit are reported in patients with PCDH - 19 mutations and epilepsy. Autism spectrum disorder (ASD) and, often, cognitive profile are usually assessed clinically. We studied autism phenotype and cognitive outcome in a series of patients using standardized tools for development and ASD. We aimed to describe the phenotype of ASD in this series and to understand whether ASD is strictly linked to intellectual disability (ID) or is present as a comorbidity. Methods Eight females aged 5 to 17 years old with PCDH-19 mutations and epilepsy were recruited. For ASD diagnosis, the Autism Diagnostic Interview — Revised (ADI-R) and the Autism Diagnosis Observation Schedule (ADOS) were administered. Patients underwent a neuropsychological examination with tests measuring global intellectual efficiency (WPPSI-III and WISC-IV), language, and executive and social cognition abilities. Parental adaptive behavioral questionnaires were also obtained (VABS, CBCL, and BRIEF). Results Six out of eight patients presented with ASD and ID. Two patients had neither ASD nor ID, and both had the latest age of onset for their epilepsy. All cognitive functions were deficient, but theory-of-mind abilities compared to other cognitive features were even impaired. Features of ASD lacked major repetitive and stereotyped behaviors and show some differences with the classical ASD features related to ID. Conclusion Our results show a large spectrum of ID and a very high rate of ASD in patients with epilepsy and PCDH-19 mutations. Autism spectrum disorder seems to be a genuine comorbidity, more than a consequence of ID. It highlights the importance of standardized psychiatric and cognitive evaluation in order to establish a tailored rehabilitation program. [ABSTRACT FROM AUTHOR]

This study focused on parents’ satisfaction with the special education and care services proposed to their child with autism spectrum disorders (ASD). Data were collected in three regions of France, using a questionnaire designed for the purpose of this study. Among the 530 families contacted, 212 filled in the questionnaire (response rate = 40.8%). Results showed that parents were globally satisfied with providers’ involvement and motivation, but they felt they were not involved enough in their child’s individualized program, that communication with providers was insufficient and that the services lacked ASD’s specific tools and interventions. Among all families interviewed, parents of adolescents were the most unsatisfied and we hypothesized that this could be due to the specific issues regarding developmental changes and concern about the future at this period of life. Congruently with the literature, variables related to parental overall satisfaction were a regular communication with professionals, a specific, regularly updated individual program in which parents are associated, and specialized tools and interventions. The implications of these findings are discussed as well as future directions for clinicians to improve service delivery and allow the persons with ASD and their families to be more involved in the services. [ABSTRACT FROM PUBLISHER]

Abstract: Aim: This study is a component of the “French Autism Plan 2008–2010”. Its objective is to describe intervention and care practices proposed to people with pervasive developmental disorders (PDD) in three French regions (Île-de-France, Franche-Comté, Nord-Pas-de-Calais). Method: Data were collected by a questionnaire adapted mailed to special education and health care services in three regions (quantitative data) and semi-structured interviews from a sample of professionals (qualitative data). A total of 254 questionnaires (163 from services for children and adolescents, 91 from services for adults) and 48 interviews (21 for children and adolescents, 27 for adults) were analyzed. Results: Intervention and care practices described often lack of specificity and are not enough adapted to people with PDD, particularly in adults’ services. An improvement of practices is nevertheless evidenced, with the development of interventions centered on the development of communication or daily living skills and procedures to manage challenging behaviors, yet not generalized. Important efforts are made regarding training and partnership with ordinary settings. Professionals also wish to better take into account the person''s and his family''s point of view in the individualized program. Conclusion: This study emphasizes lacks and improvement in intervention and care practices for people with PDD in France, and those data might be a useful basis to study the practices’ evolution in the future. [Copyright &y& Elsevier]

The aim of this study was to investigate attachment behavior in a population of infants with infantile spasms (ISs) using the Strange Situation Procedure (SSP) and to explore factors associated with the infants' attachment behavior. The SSP was assessed in a population of 29 children with ISs during the second year of life. In mothers, we assessed anxiety, depression, maternal emotions, and perception of the temperament of the child, and sociodemographic characteristics. In children, we assessed epilepsy characteristics, response to antiepileptic drugs (AEDs) at the time of the SSP, and the child's outcome at 3 years of age, in terms of intellectual disability (ID), and autism spectrum disorder (ASD). Insecure attachment was higher than in the general population (68% versus 32%). It was associated with maternal anxiety, sadness, and maternal representation of the child at 12 months but with none of the child characteristics including ID, ASD, response to AEDs, or ISs etiology. Nonspecific dimensions were more important than disease characteristics for the infants' attachment behavior. In conclusion, we propose that interventions targeting mother–child interaction could prevent attachment insecurity and the developmental consequences of early epilepsy. • Insecure attachment among infants wit Infantile Spasms is higher than in the general population • Insecure attachment is associated with maternal anxiety, sadness and maternal representation of the child • Insecure attachment is not associated with the child characteristics (ID, ASD, response to AEDs, etiology) • Interventions targeting mother-child interaction could prevent the psychological consequences of early epilepsy [ABSTRACT FROM AUTHOR]