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1.
Eur J Anaesthesiol ; 2019 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-31567468

RESUMO

BACKGROUND: Viscoelastic techniques have made it possible to describe specific fibrinolytic phenotypes (physiological, hyperfibrinolysis and shutdown) and to establish a relationship of these phenotypes with outcome. However, there remains a debate as to whether shutdown is a state of hypercoagulability or rather a coagulopathy with moderate fibrinolysis and fibrinogen consumption. OBJECTIVES: Our objectives were to describe the relationship between fibrinolytic phenotypes and outcomes, and to report the effects of tranexamic acid (TXA) administration. DESIGN: This was a retrospective analysis of prospectively acquired data from a trauma registry. SETTING: An academic level 1 trauma centre in the Lyon Region, from March 2011 to December 2016. PATIENTS: We included all injured patients who had a rotational thromboelastometry analysis at admission. Fibrinolytic phenotypes were determined according to the maximum lysis: shutdown less than 3%, physiological 3 to 15%, hyperfibrinolysis more than 15%. MAIN OUTCOME MEASURE: Mortality at 24 h and at hospital discharge. RESULTS: During the study period, 473 patients were included with the following phenotypes: physiological (344 patients, 73%), shutdown (107 patients, 23%) and hyperfibrinolysis (22 patients, 5%). There was an increase in injury severity, prothrombin time ratio, fibrin degradation products and transfusion requirements from the physiological to the shutdown and hyperfibrinolysis phenotypes. Prehospital TXA administration increased the rate of shutdown and decreased the maximum lysis value at admission. After adjustment, multivariate analysis showed that fibrinolytic phenotypes, but not TXA, were independently associated with an increased risk of early death and death before hospital discharge: shutdown [odds ratio (95% confidence interval)] 2.4 (1.2 to 4.8) and hyperfibrinolysis 67.9 (7.4 to 624.2). CONCLUSION: The results of the current study suggest that shutdown, which is associated with injury severity and mortality, probably reflects a moderate form of coagulopathy and fibrinolysis rather than a hypercoagulopathy. Therefore, the observation of shutdown fibrinolysis on thromboelastography/rotational thromboelastometry should not lead to withholding but rather to the administration of TXA.

2.
Artigo em Inglês | MEDLINE | ID: mdl-30421978

RESUMO

OBJECTIVES: Osteoporosis is a major risk factor for fracture and treatment is mainly preventive. Patients with severe psychiatric condition and treated with antipsychotics are at risk for vitamin D deficiency and iatrogenic hyperprolactinemia, two serious risk factors of osteoporosis. We aim to determine whether all antipsychotics are similar regarding the risk of osteoporosis in young patients. METHODS: From January 2009 to March 2015, we determined the vitamin D blood level (VDBL) among 484 inpatients and from January 2012 to March 2015, we determined the prolactin blood level (PBL) among 205 inpatients. We systematically recorded well-documented risk factors (e.g., age, gender, ethnic origin, body mass index, or season) and suspected risk factors (e.g., disease type or antipsychotic treatment). RESULTS: Up to 89% of the inpatients had a VDBL under the recommended threshold. Up to 60% of the inpatients had hyperprolactinemia. The multivariate model found a significant effect on VDBL for seasonality (higher VDBL in summer), ethnicity (lower VDBL in Black individuals), and treatment exposure. The multivariate model found a significant effect on PBL for gender and treatment exposure. In both models, aripiprazole had a safer profile compared with other antipsychotics. CONCLUSION: Because adolescence is a period of bone construction and a critical window of opportunity for maximizing bone mass, we recommend vitamin D supplementation in young patients with severe mental condition. It could be interesting to reconsider to regularly monitor PBL among youth patients treated with antipsychotic, with the exception of aripiprazole.

3.
Curr Opin Psychiatry ; 31(6): 474-483, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30256263

RESUMO

PURPOSE OF REVIEW: Over the past 10 years, the use of information and communication technologies (ICTs) has increased in regard to the treatment of individuals with autism spectrum disorders (ASDs). ICT support mechanisms (e.g. computers, laptops, robots) are particularly attractive and are adapted to children with ASD. In addition, ICT algorithms can offer new perspectives for clinicians, outside direct apps or gaming proposals. Here, we will focus on the use of serious games and robots because of their attractiveness and their value in working on social skills. RECENT FINDINGS: The latest knowledge regarding the use of ICT in the forms of serious games and robotics applied to individuals with ASD shows that the field of serious games has already achieved interesting and promising results, although the clinical validations are not always complete. In the field of robotics, there are still many limitations on the use of ICT (e.g. most interaction are similar to the wizard of Oz), and questions remain concerning their eventual effectiveness. SUMMARY: To describe the implications of the findings for clinical practice or research, we describe two large projects, namely, JEMImE and Michelangelo, as examples of current studies that are aimed at enhancing social skills in children with ASD by including novel algorithms with clinical insights in robots or serious games.

4.
Front Psychol ; 9: 1467, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30233439

RESUMO

Background: Impairments in imitation abilities have been commonly described in children with autism spectrum disorder (ASD). How motricity in interpersonal coordination impacts imitation, during long lasting semi-ecological conditions, has not been carefully investigated. Methods: Eighty-five children and adolescents (39 controls with typical development, TD; 29 patients with ASD; 17 patients with developmental coordination disorder, DCD), aged 6 to 20 years, participated to a behavioral paradigm in which participants, standing and moving, interacted with a virtual tightrope walker standing and moving as well. During the protocol, we measured automatically and continuously bodily postures and movements from RGB sensor recording to assess participants' behavioral imitation. Results: We show that (1) interpersonal synchronization (as evidenced by the synchrony between the participant's and the tightrope walker's bars) and (2) motor coordination (as evidenced by the synchrony between the participant's bar and its own head axis) increased with age and were more impaired in patients with ASD. Also, motor control as evidenced by the movement angle standard deviations of participants' bar and head were significantly impaired in ASD compared to TD or DCD. Conclusion: Interpersonal synchronization and motor coordination during ecological interaction show both subtle impairment in children with ASD as compared to children with TD or DCD. These results questioned how motricity mature in terms of motor control and proprioception in children with ASD.

5.
NPJ Genom Med ; 3: 24, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30155272

RESUMO

Microduplication of chromosome 1q21.1 is observed in ~0.03% of adults. It has a highly variable, incompletely penetrant phenotype that can include intellectual disability, global developmental delay, specific learning disabilities, autism, schizophrenia, heart anomalies and dysmorphic features. We evaluated a 10-year-old-male with a 1q21.1 duplication by CGH microarray. He presented with major attention deficits, phonological dysphasia, poor fine motor skills, dysmorphia and mild autistic features, but not the typical macrocephaly. Neuropsychiatric evaluation demonstrated a novel phenotype: an unusually large discrepancy between non-verbal capacities (borderline-impaired WISC-IV index scores of 70 for Working Memory and 68 for Processing Speed) vs. strong verbal skills - scores of 126 for Verbal Comprehension (superior) and 111 for Perceptual Reasoning (normal). HYDIN2 has been hypothesized to underlie macrocephaly and perhaps cognitive deficits in this syndrome, but assessment of HYDIN2 copy number by microarray is difficult because of extensive segmental duplications. We performed whole-genome sequencing which supported HYDIN2 duplication (chr1:146,370,001-148,590,000, 2.22 Mb, hg38). To evaluate copy number more rigorously we developed droplet digital PCR assays of HYDIN2 (targeting unique 1 kb and 6 kb insertions) and its paralog HYDIN (targeting a unique 154 bp segment outside the HYDIN2 overlap). In an independent cohort, ddPCR was concordant with previous microarray data. Duplication of HYDIN2 was confirmed in the patient by ddPCR. This case demonstrates that a large discrepancy of verbal and non-verbal abilities can occur in 1q21.1 duplication syndrome, but it remains unclear whether this has a specific genomic basis. These ddPCR assays may be useful for future research on HYDIN2 copy number.

6.
PLoS One ; 13(6): e0198726, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29958284

RESUMO

INTRODUCTION: The use of therapeutic body wraps (TBW) has been reported in small series or case reports, but has become controversial. OBJECTIVES: This is a feasibility, multicentre, randomized, controlled, open-label trial with blinded outcome assessment (PROBE design). SETTING: Children with autism and severe-injurious behaviours (SIB) were enrolled from 13 specialized clinics. INTERVENTIONS: Dry-sheet TBW (DRY group) vs. wet-sheet TBW (WET group). PRIMARY OUTCOME MEASURES: 3-month change in the Aberrant Behaviour Checklist irritability score (ABC-irritability) within per-protocol (PP) sample. RESULTS: From January 2008 to January 2015, we recruited 48 children (age range: 5.9 to 9.9 years, 78.1% male). Seven patients (4 in the DRY group, 3 in the WET group) were dropped from the study early and were excluded from PP analysis. At endpoint, ABC-irritability significantly improved in both groups (means (standard deviation) = -11.15 (8.05) in the DRY group and -10.57 (9.29) in the WET group), as did the other ABC scores and the Children Autism Rating scale score. However, there was no significant difference between groups. All but 5 patients were rated as much or very much improved. A repeated-measures analysis confirmed the significant improvement in ABC-irritability scores according to time (p < .0001), with no significant difference between the two groups (group effect: p = .55; interaction time x group: p = .27). Pooling both groups together, the mean 3-month change from baseline in ABC-irritability score was -10.90 (effect size = 1.59, p < .0001). CONCLUSIONS: We found that feasibility was overall satisfactory with a slow recruitment rate and a rather good attrition rate. TBW was a safe complementary therapy in this population. There was no difference between wet and dry TBW at 3 months, and ABC-irritability significantly decreased with both wet and dry sheet TBW. To assess whether TBW may constitute an alternative to medication or behavioural intervention for treating SIB in ASD patients, a larger randomized comparative trial (e.g. TBW vs. antipsychotics) is warranted. TRIAL REGISTRATION: ClinicalTrials.gov NCT03164746.

7.
Front Psychol ; 9: 676, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29887813

RESUMO

Background: In motor imitation, taking a partner's perspective often involves a mental body transformation from an embodied, ego-centered viewpoint to a disembodied, hetero-centered viewpoint. Impairments of both own-body-transformation (OBT) and abnormalities in visual-spatial processing have been reported in patients with neurodevelopmental disorders including autism spectrum disorder (ASD). In the context of a visual-motor interactive task, studying OBT impairments while disentangling the contribution of visual-spatial impairments associated with motor coordination problems has not been investigated. Methods: 85 children and adolescents (39 controls with typical development, TD; 29 patients with ASD; 17 patients with developmental coordination disorder, DCD), aged 6-19 years, participated in a behavioral paradigm in which participants interacted with a virtual tightrope walker (TW) standing and moving with him. The protocol enables to distinguish ego-centered and hetero-centered perspectives. Results: We show that (1) OBT was possible but difficult for children with neurodevelopmental disorders, as well as for TD children, when the task required the participant to perform a mental rotation in order to adopt a hetero-centered perspective. (2) Using multivariate models, hetero-centered perspective score was significantly associated with age, TW orientation, latency, and diagnosis. ASD and TD groups' performances were close and significantly correlated with age. However, it was not the case for DCD, since this group was specifically handicapped by visual-spatial impairments. (3) ASD and DCD did not perform similarly: motor performance as shown by movement amplitude was better in DCD than ASD. ASD motor response was more ambiguous and hardly readable. Conclusion: Changing perspective in a spatial environment is possible for patients with ASD although delayed compared with TD children. In patients with DCD, their visual-spatial impairments negatively modulated their performances in the experiment.

8.
Dev Med Child Neurol ; 60(9): 942-950, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29748952

RESUMO

AIM: To explore the heterogeneity of Tourette syndrome as part of a neurodevelopmental spectrum. METHOD: Using hierarchical ascendant clustering based on tic symptoms, developmental milestones, and neurodevelopmental comorbidities, we analyzed the heterogeneity of Tourette syndrome phenotypes in a sample of 174 children and adolescents with Tourette syndrome referred to a tertiary university clinic. RESULTS: The model yielded three distinct clusters characterized as follows. In cluster 1, we found many neurodevelopmental comorbidities (including intellectual disabilities, autism spectrum disorder, attention-deficit-hyperactivity disorder [ADHD], and learning disabilities) and academic impairments. In cluster 2, patients had no other neurodevelopmental comorbidities. In cluster 3, patients had higher intelligence, a high frequency of attentional impairment, school problems related to both ADHD and unspecific attention difficulties, and handwriting problems related to the tics themselves. Interestingly, clusters did not differ in terms of family history or anxious-depressive comorbidities. The only other differences that emerged were related to prenatal or perinatal risk factors (more represented in cluster 1) and treatment profiles (higher rates of stimulants in cluster 1). INTERPRETATION: We conclude that from a phenotypical perspective, Tourette syndrome is a heterogeneous syndrome with at least three main clusters that may help in addressing the etiological basis of Tourette syndrome and specific rehabilitative and therapeutic approaches. WHAT THIS PAPER ADDS: The clustering of Tourette syndrome based on comorbidity with other neurodevelopmental conditions reveals three clusters. A group of patients with Tourette syndrome show school difficulties related to non-specific attention and writing problems. Analysing only children and adolescents helps to distinguish between developmental comorbid conditions and coexistent disorders.


Assuntos
Transtornos do Neurodesenvolvimento/epidemiologia , Síndrome de Tourette/classificação , Síndrome de Tourette/complicações , Adolescente , Criança , Análise por Conglomerados , Estudos de Coortes , Feminino , França , Humanos , Masculino , Transtornos do Neurodesenvolvimento/diagnóstico , Síndrome de Tourette/psicologia
9.
Schizophr Res ; 200: 68-76, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28659239

RESUMO

OBJECTIVES: Pediatric catatonia is a rare and life-threatening syndrome. Around 20% of juvenile catatonia is associated with organic condition (Consoli et al., 2012). Autoimmune conditions represent a diagnostic and therapeutic challenge since specific antibodies can be missed. To facilitate decision making, we recently formulated a causality assessment score (CAUS) using a stepwise approach and an immunosuppressive therapeutic challenge (Ferrafiat et al., 2016). Our objectives were to validate retrospectively CAUS and to define its threshold for an accurate distinction between organic catatonia and non-organic catatonia, and specifically between autoimmune catatonia and non-organic catatonia. METHOD: To obtain a sufficient number of cases with organic catatonia, we pooled two samples (N=104) - one from a child psychiatry center, the other from neuro-pediatrics center - expert in catatonia and autoimmune conditions. Organic conditions were diagnosed using a multidisciplinary approach and numerous paraclinical investigations. Given the binary classification needs, we used receiver operating characteristic (ROC) analysis (Peacock and Peacock, 2010) to calculate the best classification threshold. RESULTS: The cohort included 67 cases of non-organic catatonia and 37 cases of organic catatonia. ROC analysis showed that the CAUS performance in discriminating both organic catatonia vs. non-organic catatonia, and autoimmune catatonia vs. non-organic catatonia was excellent (Area Under the Curve=0.99). In both analyses, for a CAUS threshold≥5, accuracy equaled to 0.96. CONCLUSION: Regarding juvenile catatonia, the use of the CAUS score algorithm combining a therapeutic challenge and a threshold≥5 may help to diagnose and treat autoimmune conditions even without formal identification of auto-antibodies.

10.
Artigo em Inglês | MEDLINE | ID: mdl-29225671

RESUMO

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.

11.
Front Psychol ; 8: 2054, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29250007

RESUMO

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.

12.
PLoS One ; 12(12): e0188831, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29216234

RESUMO

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.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos
13.
Case Rep Psychiatry ; 2017: 7582780, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28626596

RESUMO

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.

14.
Artigo em Inglês | MEDLINE | ID: mdl-28344643

RESUMO

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

15.
Front Psychiatry ; 7: 70, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27199777

RESUMO

Children with Autism need intensive intervention and this is challenging in terms of manpower, costs, and time. Advances in Information Communication Technology and computer gaming may help in this respect by creating a nomadically deployable closed-loop intervention system involving the child and active participation of parents and therapists. An automated serious gaming platform enabling intensive intervention in nomadic settings has been developed by mapping two pivotal skills in autism spectrum disorder: Imitation and Joint Attention (JA). Eleven games - seven Imitations and four JA - were derived from the Early Start Denver Model. The games involved application of visual and audio stimuli with multiple difficulty levels and a wide variety of tasks and actions pertaining to the Imitation and JA. The platform runs on mobile devices and allows the therapist to (1) characterize the child's initial difficulties/strengths, ensuring tailored and adapted intervention by choosing appropriate games and (2) investigate and track the temporal evolution of the child's progress through a set of automatically extracted quantitative performance metrics. The platform allows the therapist to change the game or its difficulty levels during the intervention depending on the child's progress. Performance of the platform was assessed in a 3-month open trial with 10 children with autism (Trial ID: NCT02560415, Clinicaltrials.gov). The children and the parents participated in 80% of the sessions both at home (77.5%) and at the hospital (90%). All children went through all the games but, given the diversity of the games and the heterogeneity of children profiles and abilities, for a given game the number of sessions dedicated to the game varied and could be tailored through automatic scoring. Parents (N = 10) highlighted enhancement in the child's concentration, flexibility, and self-esteem in 78, 89, and 44% of the cases, respectively, and 56% observed an enhanced parents-child relationship. This pilot study shows the feasibility of using the developed gaming platform for home-based intensive intervention. However, the overall capability of the platform in delivering intervention needs to be assessed in a bigger open trial.

16.
J Child Adolesc Psychopharmacol ; 26(8): 750-755, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27045389

RESUMO

OBJECTIVE: Wolfram syndrome (WS, MIM 222300) is a rare autosomal, recessive neurodegenerative disorder associated with mutations in WFS1, a gene that has been associated with bipolar disorder (BD). WS, characterized by the association of juvenile-onset diabetes mellitus (DM) and bilateral progressive optic atrophy (BPOA), encompasses several other clinical features, including cognitive impairments and psychiatric disorders. Detailed data on the psychiatric phenotype are still scarce, and how WS relates to BD is still unknown. METHOD: A 17-year-old girl with WS was hospitalized for early-onset BD. A multidisciplinary and developmental assessment was carried out to control mood symptoms and address how BD could be related to WS. RESULTS: Besides DM and BPOA, the patient had several risk factors for BD/mood disorders as follows: (1) a history of abuse and maltreatment; (2) a history of specific language disorder and borderline intelligence associated with academic failure; and (3) a comorbid hypothyroidism. Treatment encompassed all aspects of the adolescent's conditions, such as the use of mood stabilizers, addressing psychosocial and scholastic problems, and treating hypothyroid dysfunction. CONCLUSION: Given the complexity of WS, this case suggests that the possible association between WS and BD should not only be merely limited to a possible statistical association with WFS1 polymorphism but also to developmental, cognitive, and endocrine risk factors for BD.


Assuntos
Transtorno Bipolar/diagnóstico , Diabetes Mellitus Tipo 1/fisiopatologia , Síndrome de Wolfram/fisiopatologia , Adolescente , Transtorno Bipolar/etiologia , Feminino , Humanos , Proteínas de Membrana/genética , Mutação , Fatores de Risco , Síndrome de Wolfram/genética
17.
J Physiol Paris ; 110(4 Pt B): 420-426, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-28625683

RESUMO

Imitation plays a critical role in the development of intersubjectivity and serves as a prerequisite for understanding the emotions and intentions of others. In our review, we consider spontaneous motor imitation between children and their peers as a developmental process involving repetition and perspective-taking as well as flexibility and reciprocity. During childhood, this playful dynamic challenges developing visuospatial abilities and requires temporal coordination between partners. As such, we address synchrony as form of communication and social signal per se, that leads, from an experience of similarity, to the interconnection of minds. In this way, we argue that, from a developmental perspective, rhythmic interpersonal coordination through childhood imitative interactions serves as a precursor to higher- level social and cognitive abilities, such as theory of mind (TOM) and empathy. Finally, to clinically illustrate our idea, we focus on developmental coordination disorder (DCD), a condition characterized not only by learning difficulties, but also childhood deficits in motor imitation. We address the challenges faced by these children on an emotional and socio-interactional level through the perspective of their impairments in intra- and interpersonal synchrony.


Assuntos
Desenvolvimento Infantil/fisiologia , Empatia/fisiologia , Comportamento Imitativo/fisiologia , Relações Interpessoais , Periodicidade , Criança , Humanos , Grupo Associado
18.
Schizophr Res ; 168(1-2): 252-9, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26297473

RESUMO

Recognition of emotional expressions plays an essential role in children's healthy development. Anomalies in these skills may result in empathy deficits, social interaction difficulties and premorbid emotional problems in children and adolescents with schizophrenia. Twenty-six subjects with early onset schizophrenia spectrum (EOSS) disorders and twenty-eight matched healthy controls (HC) were instructed to identify five basic emotions and a neutral expression. The assessment entailed presenting visual, auditory and congruent cross-modal stimuli. Using a generalized linear mixed model, we found no significant association for handedness, age or gender. However, significant associations emerged for emotion type, perception modality, and group. EOSS patients performed worse than HC in uni- and cross-modal emotional tasks with a specific negative emotion processing impairment pattern. There was no relationship between emotion identification scores and positive or negative symptoms, self-reported empathy traits or a positive history of developmental disorders. However, we found a significant association between emotional identification scores and nonverbal communication impairments. We conclude that cumulative dysfunctions in both nonverbal communication and emotion processing contribute to the social vulnerability and morbidity found in youths who display EOSS disorder.


Assuntos
Emoções , Reconhecimento Facial , Transtornos Psicóticos/psicologia , Psicologia do Esquizofrênico , Percepção da Fala , Adolescente , Idade de Início , Criança , Expressão Facial , Feminino , Humanos , Modelos Lineares , Masculino , Escalas de Graduação Psiquiátrica , Testes Psicológicos , Transtornos Psicóticos/tratamento farmacológico , Recognição (Psicologia) , Esquizofrenia/tratamento farmacológico , Percepção Social
19.
Front Pediatr ; 3: 1, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25756039

RESUMO

There is a growing interest in the role of biological and behavioral rhythms in typical and atypical development. Recent studies in cognitive and developmental psychology have highlighted the importance of rhythmicity and synchrony of motor, emotional, and interpersonal rhythms in early development of social communication. The synchronization of rhythms allows tuning and adaptation to the external environment. The role of melatonin in the ontogenetic establishment of circadian rhythms and the synchronization of the circadian clocks network suggests that this hormone might be also involved in the synchrony of motor, emotional, and interpersonal rhythms. Autism provides a challenging model of physiological and behavioral rhythm disturbances and their possible effects on the development of social communication impairments and repetitive behaviors and interests. This article situates autism as a disorder of biological and behavioral rhythms and reviews the recent literature on the role of rhythmicity and synchrony of rhythms in child development. Finally, the hypothesis is developed that an integrated approach focusing on biological, motor, emotional, and interpersonal rhythms may open interesting therapeutic perspectives for children with autism. More specifically, promising avenues are discussed for potential therapeutic benefits in autism spectrum disorder of melatonin combined with developmental behavioral interventions that emphasize synchrony, such as the Early Start Denver Model.

20.
Res Dev Disabil ; 38: 242-55, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25575287

RESUMO

During adolescence, some individuals with autism spectrum disorder (ASD) engage in severe challenging behaviors, such as aggression, self-injury, disruption, agitation and tantrums. We aimed to assess risk factors associated with very acute behavioral crises in adolescents with ASD admitted to a dedicated neurobehavioral unit. We included retrospectively in 2008 and 2009 29 adolescents and young adults with ASD hospitalized for severe challenging behaviors and proposed a guideline (Perisse et al., 2010) that we applied prospectively for 29 patients recruited for the same indications between 2010 and 2012. In total, 58 patients were admitted (n=70 hospitalizations, mean age=15.66 (±4.07) years, 76% male). We systematically collected data describing socio-demographic characteristics, clinical variables (severity, presence of language, cognitive level), comorbid organic conditions, etiologic diagnosis of the episode, and treatments. We explored predictors of Global Assessment Functioning Scale (GAFS) score and duration of hospitalization at discharge. All but 2 patients exhibited severe autistic symptoms and intellectual disability (ID), and two-thirds had no functional verbal language. During the inpatient stay (mean=84.3 (±94.9) days), patients doubled on average their GAFS scores (mean=17.66 (±9.05) at admission vs. mean=31.4 (±9.48) at discharge). Most common etiologies for acute behavioral crises were organic causes [n=20 (28%), including epilepsy: n=10 (14%) and painful medical conditions: n=10 (14%)], environmental causes [n=17 (25%) including lack of treatment: n=11 (16%) and adjustment disorder: n=6 (9%)], and non-ASD psychiatric condition [n=33 (48%) including catatonia: n=5 (7%), major depressive episode: n=6 (9%), bipolar disorder: n=4 (6%), schizophrenia: n=6 (9%), other/unknown diagnosis: n=12 (17%)]. We found no influence of age, gender, socio-economic status, migration, level of ID, or history of seizure on improvement of GAFS score at discharge. Severity of autism at admission was the only negative predictor (p<.001). Painful medical conditions (p=.04), non-ASD psychiatric diagnoses (p=.001), prior usage of specialized ASD care programs (p=.004), functional language (p=.007), as well as a higher number of challenging behaviors upon admission (p=.001) were associated with higher GAFS scores at discharge. Clinical severity at admission, based on the number of challenging behaviors (r=.35, p=.003) and GAFS score (r=-.32, p=.008) was correlated with a longer inpatient stay. Longer hospitalization was however correlated (r=.27, p=.03) with higher GAFS score at discharge even after adjustment for confounding factors. Challenging behaviors among adolescents with ASD may stem from diverse risk factors, including environmental problems, comorbid acute psychiatric conditions, or somatic illness such as epilepsy or acute pain. The management of these behavioral challenges requires a unified, multidisciplinary approach.


Assuntos
Catatonia/psicologia , Transtornos Globais do Desenvolvimento Infantil/psicologia , Epilepsia/psicologia , Unidades Hospitalares , Transtornos Mentais/psicologia , Dor/psicologia , Doença Aguda , Transtornos de Adaptação/epidemiologia , Transtornos de Adaptação/psicologia , Transtornos de Adaptação/terapia , Adolescente , Transtorno Bipolar/epidemiologia , Transtorno Bipolar/psicologia , Transtorno Bipolar/terapia , Catatonia/epidemiologia , Catatonia/terapia , Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Transtornos Globais do Desenvolvimento Infantil/terapia , Comorbidade , Transtorno Depressivo Maior/epidemiologia , Transtorno Depressivo Maior/psicologia , Transtorno Depressivo Maior/terapia , Epilepsia/epidemiologia , Feminino , França/epidemiologia , Hospitalização , Humanos , Masculino , Transtornos Mentais/epidemiologia , Dor/epidemiologia , Estudos Prospectivos , Estudos Retrospectivos , Fatores de Risco , Esquizofrenia/epidemiologia , Esquizofrenia/terapia , Psicologia do Esquizofrênico , Índice de Gravidade de Doença , Adulto Jovem
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