Showing papers by "David Cohen published in 2017"

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Abstract: Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10-15), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 × 10-6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 × 10-11) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 × 10-5). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Abstract: Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10−15), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 × 10−6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 × 10−11) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 × 10−5). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.

Serious games to teach social interactions and emotions to individuals with autism spectrum disorders (ASD)

Abstract: The use of information communication technologies (ICTs) in therapy offers new perspectives for treating many domains in individuals with autism spectrum disorders (ASD) because they can be used in many different ways and settings and they are attractive to the patients. We reviewed the available literature on serious games that are used to teach social interactions to individuals with ASD. After screening the Medline, Science Direct and ACM Digital Library databases, we found a total of 31 serious games: 16 that targeted emotion recognition or production and 15 that targeted social skills. There was a significant correlation between the number of reports per year and the year of publication. Serious games appeared promising because they can support training on many different skills and they favour interactions in diverse contexts and situations, some of which may resemble real life. However, the currently available serious games exhibit some limitations: (i) most of them are developed for High-Functioning individuals; (ii) their clinical validation has rarely met the evidence-based medicine standards; (iii) the game design is not usually described; and, (iv) in many cases, the clinical validation and playability/game design are not compatible.

Why Reform Sometimes Succeeds: Understanding the Conditions That Produce Reforms That Last:

Abstract: Counter to narratives of persistently failed school reform, we argue that reforms sometimes succeed and seek to understand why. Drawing on examples from the founding of public schools to the presen...

The Use of Oxytocin to Improve Feeding and Social Skills in Infants With Prader-Willi Syndrome.

Abstract: BACKGROUND AND OBJECTIVES: Patients with Prader–Willi syndrome (PWS) display poor feeding and social skills as infants and fewer hypothalamic oxytocin (OXT)-producing neurons were documented in adults. Animal data demonstrated that early treatment with OXT restores sucking after birth. Our aim is to reproduce these data in infants with PWS. METHODS: We conducted a phase 2 escalating dose study of a short course (7 days) of intranasal OXT administration. We enrolled 18 infants with PWS under 6 months old (6 infants in each step) who received 4 IU of OXT either every other day, daily, or twice daily. We investigated the tolerance and the effects on feeding and social skills and changes in circulating ghrelin and brain connectivity by functional MRI. RESULTS: No adverse events were reported. No dose effect was observed. Sucking assessed by the Neonatal Oral-Motor Scale was abnormal in all infants at baseline and normalized in 88% after treatment. The scores of Neonatal Oral-Motor Scale and videofluoroscopy of swallowing significantly decreased from 16 to 9 (P CONCLUSIONS: OXT is well tolerated in infants with PWS and improves feeding and social skills. These results open perspectives for early treatment in neurodevelopment diseases with feeding problems.

Cost-Effectiveness of Solitaire Stent Retriever Thrombectomy for Acute Ischemic Stroke: Results From the SWIFT-PRIME Trial (Solitaire With the Intention for Thrombectomy as Primary Endovascular Treatment for Acute Ischemic Stroke).

Abstract: Background and Purpose—Clinical trials have demonstrated improved 90-day outcomes for patients with acute ischemic stroke treated with stent retriever thrombectomy plus tissue-type plasminogen acti...

The Dilemmas of Educational Reform

Abstract: The environment of U.S. schools has changed dramatically over a quarter century as standards tied to test-based accountability and market competition became commonplace. We examine the issues that school systems face in this changing environment, to identify considerations for researchers interested in reform as educational system building. We highlight a central dilemma: Systems manage environmental pressures to become more coherent enterprises that focus on tested outcomes while managing the inherited differentiated organizations and environmental pressures which support these enterprises. We identify four activity domains that are defined by these competing pressure: consensus on outcomes; infrastructure to connect outcomes with instruction; recruitment that is aligned with outcomes; and competing environmental pressures.

Routine Upstream Initiation vs Deferred Selective Use of Glycoprotein IIb/IIIa Inhibitors in Acute Coronary Syndromes

Abstract: CONTEXT In patients with moderate- and high-risk acute coronary syndromes (ACS) who undergo an early, invasive treatment strategy, current guidelines recommend administration of platelet glycoprotein IIb/IIIa (Gp IIb/IIIa) inhibitors, either upstream to all patients prior to angiography or deferred for selective use in the catheterization laboratory just prior to angioplasty. The preferred approach is undetermined. OBJECTIVE To determine the optimal strategy for the use of Gp IIb/IIIa inhibitors in patients with moderate- and high-risk ACS undergoing an early, invasive treatment strategy. DESIGN Prospective, randomized, open-label trial with 30-day clinical follow-up. SETTING Four hundred fifty academic and community-based institutions in 17 countries. PATIENTS A total of 9207 patients with moderate- and high-risk ACS undergoing an invasive treatment strategy. INTERVENTIONS Patients were randomly assigned to receive either routine upstream (n=4605) or deferred selective (n=4602) Gp IIb/IIIa inhibitor administration, respectively. MAIN OUTCOME MEASURES The primary outcome was assessment of noninferiority of deferred Gp IIb/IIIa inhibitor use compared with upstream administration for the prevention of composite ischemic events (death, myocardial infarction, or unplanned revascularization for ischemia) at 30 days, using a 1-sided alpha level of .025. Major secondary end points included noninferiority or superiority of major bleeding and net clinical outcomes (composite ischemia or major bleeding). RESULTS Glycoprotein IIb/IIIa inhibitors were used more frequently (98.3% vs 55.7%, respectively) and for a significantly longer duration (median, 18.3 vs 13.1 hours; P<.001) in patients in the upstream group compared with the deferred group. Composite ischemia at 30 days occurred in 7.9% of patients assigned to deferred use compared with 7.1% of patients assigned to upstream administration (relative risk, 1.12; 95% confidence interval, 0.97-1.29; P = .044 for noninferiority; P = .13 for superiority); as such, the criterion for noninferiority was not met. Deferred use compared with upstream use resulted in reduced 30-day rates of major bleeding (4.9% vs 6.1%, respectively; P<.001 for noninferiority; P = .009 for superiority) and similar rates of net clinical outcomes (11.7% vs 11.7%; P<.001 for noninferiority; P = .93 for superiority). CONCLUSIONS Among patients with moderate- and high-risk ACS undergoing an invasive treatment strategy, deferring the routine upstream use of Gp IIb/IIIa inhibitors for selective administration in the cardiac catheterization laboratory only to patients undergoing percutaneous coronary intervention resulted in a numerical increase in composite ischemia that, while not statistically significant, did not meet the criterion for noninferiority. This finding was offset by a significant reduction in major bleeding. TRIAL REGISTRATION ClinicalTrials.gov Identifier: NCT00093158.

Tourette syndrome and other neurodevelopmental disorders: a comprehensive review.

Abstract: Gilles de la Tourette syndrome (TS) is a complex developmental neuropsychiatric condition in which motor manifestations are often accompanied by comorbid conditions that impact the patient’s quality of life. In the DSM-5, TS belongs to the “neurodevelopmental disorders” group, together with other neurodevelopmental conditions, frequently co-occurring. In this study, we searched the PubMed database using a combination of keywords associating TS and all neurodevelopmental diagnoses. From 1009 original reports, we identified 36 studies addressing TS and neurodevelopmental comorbidities. The available evidence suggests the following: (1) neurodevelopmental comorbidities in TS are the rule, rather than the exception; (2) attention deficit/hyperactivity disorder (ADHD) is the most frequent; (3) there is a continuum from a simple (TS + ADHD or/and learning disorder) to a more complex phenotype (TS + autism spectrum disorder). We conclude that a prompt diagnosis and a detailed description of TS comorbidities are necessary not only to understand the aetiological basis of neurodevelopmental disorders but also to address specific rehabilitative and therapeutic approaches.

Infant and dyadic assessment in early community-based screening for autism spectrum disorder with the PREAUT grid.

Abstract: Background The need for early treatment of autism spectrum disorders (ASD) necessitates early screening. Very few tools have been prospectively tested with infants of less than 12 months of age. The PREAUT grid is based on dyadic assessment through interaction and shared emotion and showed good metrics for predicting ASD in very-high-risk infants with West syndrome. Methods We assessed the ability of the PREAUT grid to predict ASD in low-risk individuals by prospectively following and screening 12,179 infants with the PREAUT grid at four (PREAUT-4) and nine (PREAUT-9) months of age. A sample of 4,835 toddlers completed the Checklist for Autism in Toddlers (CHAT) at 24 months (CHAT-24) of age. Children who were positive at one screening (N = 100) were proposed a clinical assessment (including the Children Autism Rating Scale, a Developmental Quotient, and an ICD-10-based clinical diagnosis if appropriate) in the third year of life. A randomly selected sample of 1,100 individuals who were negative at all screenings was followed by the PMI team from three to five years of age to identify prospective false negative cases. The clinical outcome was available for 45% (N = 45) of positive children and 52.6% (N = 579) of negative children. Results Of the 100 children who screened positive, 45 received a diagnosis at follow-up. Among those receiving a diagnosis, 22 were healthy, 10 were diagnosed with ASD, seven with intellectual disability (ID), and six had another developmental disorder. Thus, 50% of infants positive at one screening subsequently received a neurodevelopmental diagnosis. The PREAUT grid scores were significantly associated with medium and high ASD risk status on the CHAT at 24 months (odds ratio of 12.1 (95%CI: 3.0–36.8), p < 0.001, at four months and 38.1 (95%CI: 3.65–220.3), p < 0.001, at nine months). Sensitivity (Se), specificity, negative predictive values, and positive predictive values (PPVs) for PREAUT at four or nine months, and CHAT at 24 months, were similar [PREAUT-4: Se = 16.0 to 20.6%, PPV = 25.4 to 26.3%; PREAUT-9: Se = 30.5 to 41.2%, PPV = 20.2 to 36.4%; and CHAT-24: Se = 33.9 to 41.5%, PPV = 27.3 to 25.9%]. The repeated use of the screening instruments increased the Se but not PPV estimates [PREAUT and CHAT combined: Se = 67.9 to 77.7%, PPV = 19.0 to 28.0%]. Conclusions The PREAUT grid can contribute to very early detection of ASD and its combination with the CHAT may improve the early diagnosis of ASD and other neurodevelopmental disorders.

GOLIAH (Gaming Open Library for Intervention in Autism at Home): a 6-month single blind matched controlled exploratory study

Abstract: To meet the required hours of intensive intervention for treating children with autism spectrum disorder (ASD), we developed an automated serious gaming platform (11 games) to deliver intervention at home (GOLIAH) by mapping the imitation and joint attention (JA) subset of age-adapted stimuli from the Early Start Denver Model (ESDM) intervention. Here, we report the results of a 6-month matched controlled exploratory study. From two specialized clinics, we included 14 children (age range 5–8 years) with ASD and 10 controls matched for gender, age, sites, and treatment as usual (TAU). Participants from the experimental group received in addition to TAU four 30-min sessions with GOLIAH per week at home and one at hospital for 6 months. Statistics were performed using Linear Mixed Models. Children and parents participated in 40% of the planned sessions. They were able to use the 11 games, and participants trained with GOLIAH improved time to perform the task in most JA games and imitation scores in most imitation games. GOLIAH intervention did not affect Parental Stress Index scores. At end-point, we found in both groups a significant improvement for Autism Diagnostic Observation Schedule scores, Vineland socialization score, Parental Stress Index total score, and Child Behavior Checklist internalizing, externalizing and total problems. However, we found no significant change for by time × group interaction. Despite the lack of superiority of TAU + GOLIAH versus TAU, the results are interesting both in terms of changes by using the gaming platform and lack of parental stress increase. A large randomized controlled trial with younger participants (who are the core target of ESDM model) is now discussed. This should be facilitated by computing GOLIAH for a web platform. Trial registration Clinicaltrials.gov NCT02560415

Hospital Practice of Direct‐Home Discharge and 30‐Day Readmission After Transcatheter Aortic Valve Replacement in the Society of Thoracic Surgeons/American College of Cardiology Transcatheter Valve Therapy (STS/ACC TVT) Registry

Abstract: BackgroundNearly 17% of patients are readmitted within 30 days of discharge after transcatheter aortic valve replacement. Selected patients are discharged to skilled nursing facilities, yet the ass...

White Blood Cell Count and Major Adverse Cardiovascular Events After Percutaneous Coronary Intervention in the Contemporary Era: Insights From the PARIS Study (Patterns of Non-Adherence to Anti-Platelet Regimens in Stented Patients Registry).

Abstract: Background—Elevated white blood cell (WBC) count is associated with increased major adverse cardiovascular events (MACE) in the setting of acute coronary syndrome. The aim of this study was to eval...

Adverse Childhood Experiences Among Inpatient Youths with Severe and Early-Onset Psychiatric Disorders: Prevalence and Clinical Correlates.

Abstract: This study aimed to determine the prevalence and the clinical correlates of Adverse Childhood Experiences (ACEs) among 158 inpatient youths with two types of severe psychiatric disorders. ACEs were retrospectively collected with the ACEs scale and the List of Threatening Experiences Questionnaire in 77 patients hospitalized for a catatonic syndrome (average age 15.2 years) and 81 for a manic or mixed episode (average age 15.7 years). ACEs were frequent in youths suffering from bipolar disorder type I (BD-I) (58 %) and from catatonia (57 %), with around one quarter exposed to severe abuse (i.e., physical/sexual/emotional abuse or physical/emotional neglect). Youths with BD-I were more likely to be exposed to family violence compared to those with catatonia. Youths who had been exposed to ACEs did not exhibit a more severe presentation or a poorer response to treatment compared to others, either in the bipolar group or in the catatonic group.

Evidence-based treatments for youths with severely dysregulated mood: a qualitative systematic review of trials for SMD and DMDD

Abstract: The aim of this literature review was to examine the evidence for psychotherapeutic and pharmacological treatments in subjects with severely dysregulated mood and to identify potential areas for improvements in research designs. A literature search was conducted using several databases for published (PubMed, PsycINFO) and ongoing (clinical trial registries) studies conducted in youths who met NIMH’s criteria for Severe Mood Dysregulation (SMD) or the DSM-5 diagnosis of Disruptive Mood Dysregulation Disorder (DMDD). Eight completed studies were identified: three randomized trials, four open pilot studies and one case report. Seven ongoing studies were found in trial registries. The available evidence suggests potential efficacy of psychotherapies which have previously been developed for internalizing and externalizing disorders. The two main pharmacological strategies tested are, first, a monotherapy of psychostimulant or atypical antipsychotic such as risperidone, already used in the treatment of severe irritability in youths with developmental disorders; and second, the use of a serotonergic antidepressant as an add-on therapy in youths treated with psychostimulant. Ongoing studies will further clarify the effectiveness of psychotherapeutic interventions for DMDD individuals and whether they should be given alone or in conjunction with other treatments. The short duration of the trials for a chronic disorder, the low number of studies, the lack of placebo or active comparator arm, and restrictive inclusion criteria in most of the controlled trials dramatically limit the interpretation of the results. Finally, future research should be conducted across multiple sites, with standardized procedures to measure DMDD symptoms reduction, and include a run-in period to limit placebo effect.

Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy

Abstract: Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with autism spectrum disorder (ASD). The objective of this article is to show the diversity of genetic disorders associated with ASD (based on an extensive review of single-gene disorders, copy number variants, and other chromosomal disorders), and consequently to propose a hierarchical diagnostic strategy with a stepwise evaluation, helping general practitioners/pediatricians and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disorders associated with ASD. The first step is a clinical investigation involving: (i) a child psychiatric and psychological evaluation confirming autism diagnosis from different observational sources and assessing autism severity; (ii) a neuropediatric evaluation examining neurological symptoms and developmental milestones; and (iii) a genetic evaluation searching for dysmorphic features and malformations. The second step involves laboratory and if necessary neuroimaging and EEG studies oriented by clinical results based on clinical genetic and neuropediatric examinations. The identification of genetic disorders associated with ASD has practical implications for diagnostic strategies, early detection or prevention of co-morbidity, specific treatment and follow up, and genetic counseling.

How Do Stress Exposure and Stress Regulation Relate to Borderline Personality Disorder

Abstract: Borderline personality disorder (BPD) is a severe and frequent disorder characterized by a pervasive pattern of instability affecting impulse control, emotional regulation, cognitive processing, self-image and interpersonal relationships. Patients' personal histories are often marked by stressful or traumatic experiences, either unique or repeated. Moreover, while clinical signs of the disorder include both chronic and acute features, acute features are mostly triggered by acute stressful situations. Such features include transient cognitive distortion, intense anger, uncontrollable impulsivity, and self-harm behavior - including suicide - and contribute to the burden of the disease. In this paper, we review the various aspects (epidemiological, clinical, and physiological) contributing to the relationship between BDP and stress. In particular, we explore the statistical association between stress exposure and the emergence of BPD while taking into account other psychopathologies, such as post-traumatic stress disorder. Then, the different aspects of stress responses (namely, the phenomenological, behavioral, hormonal, neuro-vegetative and neural responses) are reviewed in BPD patients. Pathophysiological hypotheses are formulated to explain the differences in responses between BPD patients and healthy subjects and their relation to BPD symptoms. Although the pathogenesis remains uncertain, our conclusions seem to reflect a specific biological and neural pattern of altered stress perception and regulation in BPD.

Dyspnea Among Patients With Chronic Total Occlusions Undergoing Percutaneous Coronary Intervention: Prevalence and Predictors of Improvement

Abstract: Background—Dyspnea is a common angina equivalent that adversely affects quality of life, but its prevalence in patients with chronic total occlusions (CTOs) and predictors of its improvement after ...

Interpersonal Synchrony: From Social Perception to Social Interaction

Abstract: Introduction Synchrony refers to individuals’ temporal coordination during social interactions (Cappella, 2005). The analysis of this phenomenon is complex, requiring the perception and integration of multimodal communicative signals. The evaluation of synchrony has received multidisciplinary attention because of its role in early development (Feldman, 2003), language learning (Goldstein, King, & West, 2003), and social connection (Harrist & Waugh, 2002). Initially, instances of synchrony were directly perceived in the data by trained observers. Several methods have been proposed to evaluate interactional synchrony, ranging from behavior microanalysis (Cappella, 1997) to global perception of synchrony (Bernieri, Reznick, & Rosenthal, 1988). Behavioral synchrony has now captured the interest of researchers in such fields as social signal processing, robotics, and machine learning (Prepin & Pelachaud, 2011; Kozima, Michalowski, & Nakagawa, 2009). In this chapter, we focus especially on description and definition of synchrony for the development of computational models. The chapter begins with a review of evidences of interpersonal synchrony from different research domains (psychology, clinics, neuroscience and biology). Then, we introduce a working definition of interpersonal synchrony (see Proposed Definition). The chapter surveys evaluation models and methods from the literature of psychology (see Non-computational Methods of Synchrony Assessment) and social signal processing (see Fully Automatic Measures of Synchrony). Finally, the chapter discusses a number of challenges that need to be addressed (see Conclusions and Main Challenges). Non-verbal Evidence of Interpersonal Synchrony Among social signals, synchrony and coordination have been considered lately (Ramseyer & Tschacher, 2010; Delaherche et al., 2012). Condon and Ogston (1967) initially proposed a microanalysis of human behavior (body motion and speech intonation) and evidenced the existence of interactional synchrony, the coordination between listener's and speaker's body movements, or between the listener's body movement and the speaker's pitch and stress variations. Bernieri et al. (1988) define coordination as the “degree to which the behaviors in an interaction are non-random, patterned or synchronized in both form and timing”. (Kendon, 1970) raises fundamental questions about the condition of interactional synchrony arousal and its function in interaction. When he synchronizes with the speaker, the listener demonstrates his ability to anticipate what the speaker is going to say. In this way, he gives feedback to the speaker and smoothens the running of the encounter.

Rééducation de l’expression émotionnelle chez l’enfant avec trouble du spectre autistique grâce aux supports numériques : le projet JEMImE

Abstract: Resume L’utilisation de jeux serieux pour favoriser l’emergence de capacites d’interactions sociales plus abouties chez les personnes avec autisme est de plus en plus exploree. Apres une revue de la litterature concernant les jeux serieux focalises sur la reconnaissance des emotions ayant ete proposes et utilises avec des personnes autistes, nous decrirons l’architecture d’un nouveau jeu serieux JEMImE dont l’objectif est de travailler la production emotionnelle uni et bimodale en contexte social. Nous decrirons le principal verrou technologique, a savoir la programmation d’un algorithme de reconnaissance emotionnelle capable de donner en temps reel un feed-back au joueur. Cet algorithme sera developpe suivant des principes d’apprentissage machine sur une base de donnees d’emotions produites par des enfants tout-venant recrutes dans des ecoles et specifiquement creee pour le projet.

Relations between Automatically Extracted Motion Features and the Quality of Mother-Infant Interactions at 4 and 13 Months

Abstract: Bodily movements are an essential component of social interactions. However, the role of movement in early mother-infant interaction has received little attention in the research literature. The aim of the present study was to investigate the relationship between automatically extracted motion features and interaction quality in mother-infant interactions at 4 and 13 months. The sample consisted of 19 mother-infant dyads at 4 months and 33 mother-infant dyads at 13 months. The coding system Coding Interactive Behavior (CIB) was used for rating the quality of the interactions. Kinetic energy of upper-body, arms and head motion was calculated and used as segmentation in order to extract coarse- and fine-grained motion features. Spearman correlations were conducted between the composites derived from the CIB and the coarse- and fine-grained motion features. At both 4 and 13 months, longer durations of maternal arm motion and infant upper-body motion were associated with more aversive interactions, i.e., more parent-led interactions and more infant negativity. Further, at 4 months, the amount of motion silence was related to more adaptive interactions, i.e., more sensitive and child-led interactions. Analyses of the fine-grained motion features showed that if the mother coordinates her head movements with her infant's head movements, the interaction is rated as more adaptive in terms of less infant negativity and less dyadic negative states. We found more and stronger correlations between the motion features and the interaction qualities at 4 compared to 13 months. These results highlight that motion features are related to the quality of mother-infant interactions. Factors such as infant age and interaction set-up are likely to modify the meaning and importance of different motion features.

Distinguish self- and hetero-perceived stress through behavioral imaging and physiological features.

Abstract: Stress reactivity is a complex phenomenon associated to multiple and multimodal expressions. Response to stressors has an obvious survival function and may be seen as an internal regulation to adapt to threat or danger. The intensity of this internal response can be assessed as the self-perception of the stress response. In species with social organization, this response also serves a communicative function, so-called hetero-perception. Our study presents multimodal stress detection assessment - a new methodology combining behavioral imaging and physiological monitoring for analyzing stress from these two perspectives. The system is based on automatic extraction of 39 behavioral (2D + 3D video recording) and 62 physiological (Nexus-10 recording) features during a socially evaluated mental arithmetic test. The analysis with machine learning techniques for automatic classification using Support Vector Machine (SVM) show that self-perception and hetero-perception of social stress are both close but different phenomena: self-perception was significantly correlated with hetero-perception but significantly differed from it. Also, assessing stress with SVM through multimodality gave excellent classification results (F1 score values: 0.9 ± 0.012 for hetero-perception and 0.87 ± 0.021 for self-perception). In the best selected feature subsets, we found some common behavioral and physiological features that allow classification of both self- and hetero-perceived stress. However, we also found the contributing features for automatic classifications had opposite distributions: self-perception classification was mainly based on physiological features and hetero-perception was mainly based on behavioral features.

Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness

Abstract: We report the case of a young boy with nonverbal autism and intellectual disability, with a rare de novo 1q21.3 microdeletion. The patient had early and extreme self-injurious behaviours that led to blindness, complicated by severe developmental regression. A significant reduction in the self-injurious behaviours and the recovery of developmental dynamics were attained in a multidisciplinary neurodevelopmental inpatient unit. Improvement was obtained after managing all causes of somatic pains, using opiate blockers and stabilizing the patient’s mood. We offered both sensorimotor developmental approach with therapeutic body wrap and specific psychoeducation adapted to his blindness condition for improving his communication abilities.