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OBJECTIVE: Therapeutic alliance has been little investigated in infant and toddler therapy, with no tools specifically adapted to this population. However, we have developed the Infant-Toddler Working Alliance Inventory-Short form (IT-WAI-S) which is based on the Working Alliance Inventory. The aim of this study was to assess the psychometric properties of this original French tool, in its two versions: for parent (IT-WAI-SP) and for therapist (IT-WAI-STh). METHOD: This study included 227 families consulting with their 18-48-month-old child for emotional or behavioral disorders. The scales were filled in at the first three therapy sessions. The IT-WAI-S acceptability, internal validity, reliability and predictive validity (association with child and mother's outcomes) were evaluated. RESULTS: Confirmatory then exploratory factor analyses revealed a three-factor structure for the both scales: Negative Experience of Care Relationship, Positive Alliance and Alliance with the Child. Acceptability, reproducibility and construct validity were satisfactory for both versions. The two versions predicted the child's outcome. The IT-WAI-SP predicted also the mother's outcome. The IT-WAI-STh gave more reproducible results, whereas the IT-WAI-SP was a better predictor of the child's progress. CONCLUSION: The two IT-WAI-S versions showed good psychometric properties and could be used to study the therapeutic alliance in young children.
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OBJECTIVES: The therapeutic alliance, an essential component of the therapeutic process, has been investigated in adult and child therapy, but studies in the context of parent-infant or parent-toddler therapeutic interventions are scarce. This monocentric study aims to produce a French cross-cultural adaptation of a therapeutic alliance scale for the context of early consultations in a child and psychiatry department. METHOD: Fifty-five young children aged 3 to 30 months consulting for regulation or behavioral disorders and their mothers were included in the study. The working alliance inventory (WAI) was translated into French by two bilingual translators and adapted to early-age consultations in parent and therapist versions. Assessments of the child's symptoms and the parents' anxiety and depression were carried out at the start and end of therapy. We studied the association of the alliance with the initial clinical characteristics and with the outcome of the child and the mother. An exploratory factor analysis was performed considering the items most associated with expected outcomes. RESULTS: The alliance coded by the mother was lower in case of child behavioral problems and was associated with the mother and child outcome. Short versions of the infant-toddler WAI were developed based on factor analysis, highlighting four factors: positive goals and tasks, bond with the mother, alliance with the child, negative experience of care relationship. DISCUSSION: Results were similar to those found in therapy with adults or older children. The alliance issue in mother-baby therapies was as essential as in other therapy contexts. The short Infant-Toddler WAI resulting from this work must be validated in future studies.
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Trastornos Mentales , Psicoterapia , Adulto , Femenino , Humanos , Preescolar , Lactante , Niño , Adolescente , Psicoterapia/métodos , Padres , Síntomas Conductuales , Madres , Relaciones Profesional-PacienteRESUMEN
OBJECTIVES: Several studies have shown that in young children, behavioural and/or emotional disorders are more difficult to manage than regulatory disorders. Moreover, data are lacking on outcome predictive factors. This article presents a short synthesis of previous research about outcome predictive factors in child psychiatry. It also describes the protocol of a longitudinal observational European multicentre study the main objective of which was to identify predictive factors of behavioural and emotional disorder outcome in toddlers after parent-child psychotherapy. The secondary objectives were to study predictive factors of the outcome in parents (anxiety/depression symptoms) and parent-child relationship. METHOD: In order to highlight medium-effect size, 255 toddlers (age: 18 to 48 months) needed to be included. Outcomes will be assessed by comparing the pre- and post-therapy scores of a battery of questionnaires that assess the child's symptoms, the parents' anxiety/depression, and the parent-child relationship. Multivariate linear regression analysis will be used to identify predictive factors of the outcome among the studied variables (child age and sex, socio-economic status, life events, disorder type, intensity and duration, social support, parents' psychopathology, parents' attachment, parent-child relationships, therapy length and frequency, father's involvement in the therapy, and therapeutic alliance). EXPECTED RESULTS AND CONCLUSION: This study should allow identifying some of the factors that contribute to the outcome of externalizing and internalizing disorders, and distinguishing between pre-existing and treatment-related variables. It should also help to identify children at higher risk of poor outcome who require special vigilance on the part of the therapist. It should confirm the importance of therapeutic alliance. TRIAL REGISTRATION: ID-RCB 2008-A01088-47.
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Trastornos Mentales , Preescolar , Humanos , Lactante , Trastornos Mentales/epidemiología , Trastornos Mentales/terapia , Estudios Multicéntricos como Asunto , Relaciones Padres-Hijo , Padres/psicología , Estudios Prospectivos , PsicoterapiaRESUMEN
BACKGROUND: Analysis of the health profile of participants aged over 65 has been initiated in balneotherapy. AIMS: To determine the benefits of a 3-week outpatient balneotherapy program on patient-reported outcomes. METHODS: Our sample consisted of 1471 people. The average age of the study population was 72.5 years (± 5.1) and 67% of the participants were females. Symptoms intensity was measured by visual analogue scale, and health-related quality of life (HRQL) with the EQ5D questionnaire before and after the program. Changes of perceived functional status were rated using a 3-point Likert scale. RESULTS: The results indicated a significant increase in the fear of falling and a decrease in fatigue. EQ5D reveals a significant improvement after the program. The perceived change scores remained stable, except for anxiety/depression. CONCLUSIONS: The study indicated significant improvements of HRQL and a decrease of perception of fatigue and anxiety in elderly people participants in a 3-week balneological programme.
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Balneología , Calidad de Vida , Accidentes por Caídas , Anciano , Miedo , Femenino , Humanos , Masculino , Pacientes Ambulatorios , Medición de Resultados Informados por el PacienteRESUMEN
BACKGROUND: A falls prevention programme has been initiated in balneotherapy at Balaruc-les-Bains. AIMS: To determine the health profiles of subjects who are at risk of falls, over 65 years of age and attending balneotherapy. METHODS: Questionnaires were used to evaluate people on their fear of falling. Fatigue was assessed by visual analog scale as well as by functional status over the past 12 months. EQ-5D-3L, the IPAQ questionnaire and Fried's frailty scale were all used. Patients' functional capabilities were tested using the Unipedal stance test, the TUG test, the SPPB, the Tandem walking test and the isometric manual grip strength test. RESULTS: Out of the 1471 patients (72.45 years ± 5.10), the women (67%) were tested. In the last 12 months, 485 of these 1471 patients fell (33%) and 37% of them suffered a severe injury. 45-50% of these subjects are now in good health. Women had a significantly higher impaired perception of their health than men (0.02 < p < 0.0001). According to Fried's criteria, 10.2% of the population is considered frail, with a significantly greater number of women (p < 0.0001). Static equilibrium was subnormal (less than 12 s during the TUG). The number of steps in tandem position discriminates individuals and gender as does the speed of moving from A to B and muscular strength. CONCLUSIONS: More than one-third of the subjects (more women than men) aged 65 or older visiting the Balaruc-les-Bains health resort are pre-frail or frail. They all have a recent history of falls, suffer from impaired muscle strength, and have balance and gait disorders.
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Accidentes por Caídas , Fragilidad , Anciano , Miedo , Femenino , Anciano Frágil , Evaluación Geriátrica , Humanos , Masculino , PrevalenciaRESUMEN
OBJECTIVES: During the COVID-19 pandemic, the French government has decided a general lockdown. This unprecedented situation has raised concerns about children's and adolescent's mental health. Children and adolescents diagnosed with attention deficit hyperactivity disorder (ADHD) may find this context of restrained activity particularly tricky. The objectives of our study are to gather information about the well-being and global life conditions of children and adolescents with ADHD during the COVID-19 outbreak in France. METHODS: We designed a survey including both open-ended questions and questionnaire items for parents of children and adolescents with ADHD. Parents responded to the following open-ended questions: 1) "How is your child doing since the lockdown?" 2) "How is life at home since the lockdown?" 3) "If you had a remote service provision with a mental health professional (e.g. by telephone or video technology), please share your thoughts and any suggestions with us" 4) "Please share any other items that you think are important about ADHD symptoms of your child and the lockdown situation". This survey was posted on social media on the 6th of April and disseminated by French ADHD-parent and patient organizations. The present article reports the descriptive, qualitative and textometrical analyses of the survey. RESULTS: Between day 20 and 30 of lockdown, 538 parents responded to the survey, and we included 533 responses in the final analysis. The vast majority of responders were women 95 % (95 % CI 93,50; 97,18) with children whose mean age was 10,5 (95 % CI 7.58; 13.44). Since the lockdown, 34.71 % (95 % CI 30.70; 38.94) of children experienced a worsening in well-being, 34.33 % (95 % CI 30.34; 38.56) showed no significant changes and 30.96 % (95 % CI 27.09; 35.10) were doing better according to their parents. The thematic analysis showed that an improvement of their children's anxiety was one of the main topics addressed by parents. This improvement related to less school-related strain and flexible schedules that respected their children's rhythm. Improved self-esteem was another topic that parents linked with a lesser exposure of their children to negative feed-back. Parents repeatedly reported both inattention and hyperactivity/impulsivity. However, optimal lockdown life conditions seemed to compensate for the impact of ADHD symptoms (e.g. sufficient space at home, presence of a garden). Some parents reported worsening of general well-being in their children, and this manifested as oppositional/defiant attitudes and emotional outbursts. Parents also cited sleep problems and anxiety in this context. As regards everyday life during lock-down, at-home schooling was another major topic-parents described that their children struggled to complete school-related tasks and that teachers seemed to have forgotten about academic accommodations. The lockdown situation seems to have raised parents' awareness of the role of inattention and ADHD symptoms in their children's learning difficulties. Due to potential selection biases, the results of our survey may not be generalizable to all children and adolescents with ADHD. The main strengths of this rapid survey-based study lies in the reactivity of the participants and the quality and diversity of their responses to the open-ended questions. CONCLUSIONS: According to their parents, most children and adolescents with ADHD experience stability or improvement of their well-being. An improvement in school-related anxiety and the flexible adjustment to the children's' rhythms as well as parents' increased awareness of the difficulties their children experience are among the key topics in parents' descriptions.
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Adaptación Psicológica , Trastorno por Déficit de Atención con Hiperactividad/psicología , Betacoronavirus , Infecciones por Coronavirus , Pandemias , Neumonía Viral , Psicología del Adolescente , Psicología Infantil , Aislamiento Social/psicología , Adolescente , Actitud , Tedio , COVID-19 , Niño , Educación , Relaciones Familiares , Femenino , Francia , Vivienda , Humanos , Actividades Recreativas , Masculino , Relaciones Padres-Hijo , Padres/psicología , SARS-CoV-2 , Autoimagen , Trastornos del Sueño-Vigilia/epidemiología , Trastornos del Sueño-Vigilia/etiología , Encuestas y CuestionariosRESUMEN
This study analyzes the evolution in kinematic and non-linear stabilometric parameters in elderly sedentary women selected to participate in a brisk walking program. Ninety-four women were randomly selected for a program of 78 sessions over 6 months, with three sessions of 60 min per week. On the force platform, participants were assessed with both eyes opened as well as eyes closed during a period of 51.2 s and the sampling frequency was 40 Hz. The main dependent kinematic variables were the length, stabilogram surface, and the mean position in anteroposterior as well as medio-lateral directions. For the dynamic approach, we have selected the parameters of recurrence quantification analysis, sample entropy, and multiscale entropy. The kinematic and the time series analysis of group × time interactions demonstrated that 6 months of walk-training lacked influence on kinematic postural responses and on dynamical measurements. The weekly brisk walking program was situated on flat ground and consisted of three 60-min weekly sessions lasting 6 months, leading to no significant effect on postural responses. In regards to international recommendations brisk walking is a pertinent exercise. However, in older sedentary women, our study indicated a systemic lack of influence of 6 months' walk-training on flat ground on kinematic postural responses and on dynamical measures obtained by time series analysis.
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Terapia por Ejercicio/métodos , Equilibrio Postural/fisiología , Conducta Sedentaria , Velocidad al Caminar/fisiología , Adiposidad/fisiología , Anciano , Fenómenos Biomecánicos , Índice de Masa Corporal , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with KS and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI). In addition, molecular data and several clinical symptoms were studied. FSIQ and VCI scores were 10 points lower for patients with a truncating mutation than other types of mutations. In addition, scores for FSIQ, VCI and PRI were lower for children with visual impairment than normal vision. We also identified a discrepancy in indexes characterized by high WMI and VCI and low PRI and PSI. We emphasize the importance of early identification and intensive care of visual disorders in patients with KS and recommend individual assessment of intellectual profile.
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Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Proteínas de Unión al ADN/genética , Cara/anomalías , Estudios de Asociación Genética , Enfermedades Hematológicas/diagnóstico , Enfermedades Hematológicas/genética , Mutación , Proteínas de Neoplasias/genética , Fenotipo , Enfermedades Vestibulares/diagnóstico , Enfermedades Vestibulares/genética , Adolescente , Alelos , Niño , Análisis Mutacional de ADN , Femenino , Orden Génico , Sitios Genéticos , Humanos , Inteligencia , Masculino , Pruebas NeuropsicológicasRESUMEN
UNLABELLED: Low bone mass is a consequence of anorexia nervosa (AN). This study assessed the effects of energy deficiency on various bone and hormonal parameters. The interrelationships between energy deficiency and bone remodelling, glucose homeostasis and adipokines underscore the importance of preventing energy deficiency to limit demineralisation and hormonal alterations in AN patients. INTRODUCTION: Low areal bone mineral density (aBMD) is a well-known consequence of AN. However, the impact of reduced energy expenditure on bone metabolism is unknown. This study assessed the effects of energy deficiency on bone remodelling and its potential interactions with glucose homeostasis and adipose tissue-derived hormones in AN, a clinical model for reduced energy expenditure. METHODS: Fifty women with AN and 50 age-matched controls (mean age 18.1 ± 2.7 and 18.0 ± 2.1 years, respectively) were enrolled. aBMD was determined with DXA. Resting energy expenditure (REEm), a marker of energy status, was indirectly assessed by calorimetry. Bone turnover markers, undercarboxylated osteocalcin (ucOC), parameters of glucose homeostasis, adipokines and growth factors were concomitantly evaluated. RESULTS: AN patients presented low aBMD at all bone sites. REEm, bone formation markers, ucOC, glucose, insulin, HOMA-IR, leptin and IGF-1 were significantly reduced, whereas the bone resorption marker, leptin receptor (sOB-R) and adiponectin were elevated in AN compared with CON. In AN patients, REEm was positively correlated with weight, BMI, whole body (WB) fat mass, WB fat-free soft tissue, markers of bone formation, glucose, insulin, HOMA-IR, leptin and IGF-1 and negatively correlated with the bone resorption marker and sOB-R. Biological parameters, aBMD excepted, appeared more affected by the weight variation in the last 6 months than by the disease duration. CONCLUSIONS: The strong interrelationships between REEm and bone remodelling, glucose homeostasis and adipokines underscore the importance of preventing energy deficiency to limit short- and long-term bone demineralisation and hormonal alterations in AN patients.
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Adipoquinas/sangre , Anorexia Nerviosa/fisiopatología , Glucemia/metabolismo , Remodelación Ósea/fisiología , Metabolismo Energético/fisiología , Adolescente , Anorexia Nerviosa/sangre , Anorexia Nerviosa/complicaciones , Antropometría/métodos , Biomarcadores/sangre , Peso Corporal/fisiología , Densidad Ósea/fisiología , Enfermedades Óseas Metabólicas/sangre , Enfermedades Óseas Metabólicas/etiología , Enfermedades Óseas Metabólicas/fisiopatología , Estudios de Casos y Controles , Femenino , Homeostasis/fisiología , Humanos , Péptidos y Proteínas de Señalización Intercelular/sangre , Menstruación/fisiología , Factores de Tiempo , Adulto JovenRESUMEN
Recent experimental data suggest that circulating serotonin interacts with bone metabolism, although this is less clear in humans. This study investigated whether serum serotonin interferes with bone metabolism in young women with anorexia nervosa (AN), a clinical model of energy deprivation. Serum serotonin, markers of bone turnover [osteocalcin (OC), procollagen type I N-terminal propeptide (PINP), type I-C telopeptide breakdown products (CTX)], leptin, soluble leptin receptor (sOB-R), and insulin-like growth factor-1 (IGF-1) and its binding protein (IGFBP-3) were assessed. Whole body, spine, hip, and radius areal bone mineral density BMD (aBMD) were assessed by dual-energy X-ray absorptiometry in 21 patients with AN and 19 age-matched controls. Serum serotonin, leptin, IGF-1, IGFBP-3, OC, PINP, and aBMD at all sites, radius excepted, were significantly reduced in AN whereas CTX and sOB-R were increased compared with controls. Serum serotonin levels were positively correlated with weight, body mass index, whole body fat mass, leptin, and IGF-1, and negatively with CTX for the entire population. Low serum serotonin levels are observed in patients with AN. Although no direct link between low serum serotonin levels and bone mass was identified in these patients, the negative relationship between serotonin and markers of bone resorption found in all population nevertheless suggests the implication of serotonin in bone metabolism. Impact of low serum serotonin on bone in AN warrants further studies.
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Anorexia Nerviosa/sangre , Resorción Ósea/sangre , Serotonina/sangre , Adolescente , Anorexia Nerviosa/complicaciones , Anorexia Nerviosa/fisiopatología , Antropometría , Densidad Ósea , Resorción Ósea/complicaciones , Resorción Ósea/fisiopatología , Estudios de Casos y Controles , Femenino , Hormonas , HumanosRESUMEN
This study analyzed the evolution in peak torque (PT) and mean power (MP) isokinetic parameters in the quadriceps and hamstring muscles of elderly sedentary women who were randomly selected to participate in a brisk walking program for 6 months. The 121 sedentary women of this study presented a mean score of 5.3 (±1.7) on the Physical Activity Questionnaire for the Elderly and covered 86 % of the theoretical distance on the 6-min walk test. The isokinetic evaluation was performed on both sides at 60°/s and 180°/s. PT and MP were selected for analysis. Women in the trained group (n = 61) participated in a program of 78 sessions over 6 months with three sets of 60 min of exercise per week. For this group, heart rate, time and distance were, respectively, 125.2 bt/min (±10), 37.9 min (±4.2) and 3756.3 m (±445.4). The analysis of the group × time interaction demonstrated an increase in the PT of the dominant-side hamstrings (p < 0.001). In the trained group, we observed a significant increase in PT at 60°/s for the hamstrings on both sides (0.01 < p < 0.02) and a significant increase in MP for the hamstrings at 60°/s on the nondominant side (p < 0.05). The study indicates a minor, though significant, influence of a brisk walking program on the peak torque and mean power of the quadriceps and hamstring muscles in sedentary women over 60 years.
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Ejercicio Físico/fisiología , Articulación de la Rodilla/fisiología , Músculo Cuádriceps/fisiología , Caminata/fisiología , Anciano , Femenino , Humanos , Rodilla/fisiología , Persona de Mediana Edad , Proyectos Piloto , Método Simple Ciego , TorqueRESUMEN
OBJECTIVES: Physical inactivity and advanced age are associated with risk of depressive disorders. Physical activity can reduce depressive symptoms in older subjects with depressive disorders. We investigated whether a walking intervention program may decrease the occurrence of depressive symptoms in inactive post-menopausal women without depression. METHOD: A total of 121 participants aged 57-75 years were randomly assigned to a six-month moderate intensity walking intervention (three times a week, 40 minutes per session, supervised and home-based) or to a control group (waiting list). Inactivity was assessed using the Physical Activity Questionnaire for the Elderly. Depression levels were measured pre- and post-intervention with the Beck depression inventory (BDI). Several baseline measures were considered as possible predictors of post-intervention BDI score. RESULTS: Participants in the walking intervention showed a significant decrease in depression as compared with controls. Baseline cognitive-BDI subscore, subjective health status, body mass index and adherence were post-intervention BDI score predictors. CONCLUSION: A six-month, three-session per week, moderate intensity walking intervention with a minimal 50% adherence rate reduces depression in post-menopausal women at risk for depression due to physical inactivity. This type of walking intervention could be considered as a widely accessible prevention strategy to prevent depressive symptoms in post-menopausal women at risk of depression.
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Depresión/prevención & control , Trastorno Depresivo/prevención & control , Ejercicio Físico , Posmenopausia/psicología , Caminata , Anciano , Índice de Masa Corporal , Trastorno Depresivo/psicología , Terapia por Ejercicio/métodos , Femenino , Estado de Salud , Humanos , Salud Mental , Persona de Mediana Edad , Actividad Motora , Inventario de Personalidad , Estudios Prospectivos , Encuestas y Cuestionarios , Factores de Tiempo , Resultado del Tratamiento , Caminata/psicologíaRESUMEN
To assess the health-related quality of life (QoL) in children with congenital heart diseases (CHD) with a validated questionnaire in comparison with control children. We prospectively recruited 282 children with CHD aged from 8 to 18 years in two tertiary care centers (France and Belgium) and 180 same-age controls in randomly selected French schools. Children's QoL was self-reported with the KIDSCREEN-52 questionnaire and reported by parents with the KIDSCREEN-27. QoL scores of each dimension were compared between CHD and controls and between the classes of disease severity. Both centers were comparable for most demographic and clinical data. Age- and gender-adjusted self-reported QoL scores were lower in CHD children than in controls for physical well-being (mean ± SEM 45.97 ± 0.57 vs 50.16 ± 0.71, p < 0.0001), financial resources (45.72 ± 0.70 vs 48.85 ± 0.87, p = 0.01), peers/social support (48.01 ± 0.72 vs 51.02 ± 0.88, p = 0.01), and autonomy in the multivariate analysis (47.63 ± 0.69 vs 49.28 ± 0.85, p = 0.04). Parents-reported scores were lower in CHD children for physical (p < 0.0001), psychological well-being (p = 0.04), peers/social support (p < 0.0001), and school environment (p < 0.0001) dimensions. Similarly, the disease severity had an impact on physical well-being (p < 0.001), financial resources (p = 0.05), and peers/social support (p = 0.01) for self-reported dimensions, and on physical well-being (p < 0.001), psychological well-being (p < 0.01), peers/social support (p < 0.001), and school environment (p < 0.001) for parents-reported dimensions. However, in multivariate analysis on self-reported QoL, disease severity was significantly associated with the self-perception dimension only. Self-reported QoL of CHD children was similar to that of same-age healthy children in seven of 10 dimensions, but parents-reported QoL was impaired in four of five dimensions.
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Cardiopatías Congénitas/psicología , Padres/psicología , Calidad de Vida/psicología , Apoyo Social , Adolescente , Bélgica , Estudios de Casos y Controles , Niño , Estudios Transversales , Femenino , Francia , Humanos , Modelos Lineales , Masculino , Análisis Multivariante , Estudios Prospectivos , Instituciones Académicas , Autoimagen , Autoinforme , Índice de Severidad de la Enfermedad , Centros de Atención TerciariaRESUMEN
Based on nationwide data from the French national cancer institute (INCa), we analyzed the evolution of cancer genetics consultations and testing over time, and the uptake of targeted tests in relatives of families with BRCA1/2 or MMR genes mutation. Genetic testing and consultations for familial high-risk individuals are exclusively funded and monitored by the INCa in France. All nationwide cancer genetics centers reported annually standardized parameters of activity from 2003 to 2011. The analysis included a total of 240,134 consultations and 134,652 genetic tests enabling to identify 32,494 mutation carriers. Referral for hereditary breast and ovarian cancer (HBOC) or colorectal cancer predisposition syndromes represented 59 % (141,639) and 23.2 % (55,698) consultations, respectively. From 2003 to 2011, we found a dramatic and steady increase of tests performed for BRCA1/2 (from 2,095 to 7,393 tests/year, P < 0.0001) but not for MMR genes (from 1,144 to 1,635/year, P = NS). The overall percentage of deleterious mutations identified in the probands tested was 13.8 and 20.9 % in HBOC and Lynch syndromes, respectively. Pooled analysis for BRCA1/2 and Lynch syndrome tests showed an inverse relationship between the percentage of mutation detected and the absolute number of tests performed over the time (overall Cochran-Armitage test for trend: P < 0.001). In families with BRCA1/2 or MMR identified mutations, there was an average number of 2.94 and 3.28 relatives performing targeted tests, respectively. This nationwide study shows a lack of referral and genetic testing in Lynch as compared to HBOC syndromes. Only a third of relatives of a proband with a predisposing mutation performed a targeted test. Enhanced information about benefit of genetic testing should be given to clinicians and patients for Lynch syndrome and relatives of a proband carrying an identified predisposing mutation.
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Proteínas Adaptadoras Transductoras de Señales/genética , Neoplasias de la Mama/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Proteínas de Unión al ADN/genética , Genes BRCA1 , Genes BRCA2 , Asesoramiento Genético/estadística & datos numéricos , Pruebas Genéticas/estadística & datos numéricos , Proteína 2 Homóloga a MutS/genética , Síndromes Neoplásicos Hereditarios/genética , Proteínas Nucleares/genética , Neoplasias Ováricas/genética , Derivación y Consulta/estadística & datos numéricos , Neoplasias de la Mama/prevención & control , Instituciones Oncológicas/estadística & datos numéricos , Neoplasias Colorrectales Hereditarias sin Poliposis/prevención & control , Reparación de la Incompatibilidad de ADN/genética , Análisis Mutacional de ADN/estadística & datos numéricos , Salud de la Familia , Femenino , Francia , Tamización de Portadores Genéticos , Asesoramiento Genético/tendencias , Pruebas Genéticas/tendencias , Humanos , Laboratorios/estadística & datos numéricos , Masculino , Homólogo 1 de la Proteína MutL , Mutación , Síndromes Neoplásicos Hereditarios/prevención & control , Neoplasias Ováricas/prevención & control , Derivación y Consulta/tendenciasRESUMEN
High-functioning autism (HFA) is characterized by persistent impairment in social interaction despite the absence of mental retardation. Although an increasing number of group-based programs for the improvement of social skills have been described, randomized controlled trials are needed to evaluate their efficacy. To compare the effect of a Social Skills Training Group-based Program (SST-GP) and a Leisure Activities Group-based Program (LA-GP) on the perception of facial emotions and quality of life (QoL) in young people with HFA. Eligible patients were children and adolescents with HFA. Participants were randomized to the SST or LA group. The primary outcome was defined as an improvement of 2 points in error rates for facial emotion labeling (DANVA2) from baseline. After the 6-month training period, the SST Group made fewer errors in labeling anger on adult faces, whereas error rates in the LA Group remained stable. Progress in the ability to recognize anger in the SST Group was due to better recognition of low intensity stimuli on adult faces. QoL increased in the SST Group in the dimension of school environment, as a marker of the transfer of skills acquired in the treatment setting to their use in the community. The SST-GP had higher efficacy than the LA-GP. Data justify replication using larger samples.
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Trastorno Autístico/terapia , Relaciones Interpersonales , Psicoterapia de Grupo/métodos , Calidad de Vida/psicología , Conducta Social , Trastorno Autístico/psicología , Niño , Emociones , Expresión Facial , Femenino , Humanos , Masculino , Proyectos Piloto , Resultado del TratamientoRESUMEN
The objective of this work was to study the natural history of dystrophinopathies and the genotype-phenotype correlations made possible by the development of the clinical part of the French DMD database. The collection of 70,000 clinical data for 600 patients with an average longitudinal follow-up of 12years enabled clarification of the natural history of Duchenne and Becker muscular dystrophies and clinical presentations in symptomatic females. We were able to specify the phenotypic heterogeneity of motor, orthopedic and respiratory involvements (severe, standard and intermediary form), of the cardiac disorder (severe, standard or absent cardiomyopathy, absence of correlation between motor and cardiac involvements), and of brain function (mental deficiency in the patients with Becker muscular dystrophy, psychopathological disorders in dystrophinopathies). Phenotypic variability did not correlate with a specific mutational spectrum. We propose a model of phenotypic analysis based on the presence or not of muscular and cardiac involvements (described by age at onset and rate of progression) and brain involvement (described by the type and the severity of the cognitive impairment and of the psychological disorders). The methodology developed for the DMD gene can be generalized and used for other databases dedicated to genetic diseases. Application of this model of phenotypic analysis for each patient and further development of the database should contribute substantially to clinical research providing useful tools for future clinical trials.
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Distrofina/genética , Estudios de Asociación Genética , Heterogeneidad Genética , Distrofia Muscular de Duchenne/genética , Adolescente , Edad de Inicio , Niño , Preescolar , Estudios de Cohortes , Bases de Datos Factuales , Femenino , Francia/epidemiología , Técnicas Genéticas , Humanos , Masculino , Actividad Motora , Distrofia Muscular de Duchenne/epidemiología , FenotipoRESUMEN
OBJECTIVES: Functional and behavioral disorders are the most frequent reasons for consultation in infant psychiatry, but there are still few studies about the efficacy of parents-child psychotherapies. Functional disorders appear to be easier to treat than behavioral disorders. The aim of this study was: (1) to assess outcome after a brief psychotherapy in a population of 49 infants aged 3 to 30 months, presenting functional or behavioral disorders; (2) to compare characteristics before therapy and outcomes for children with functional disorders and with behavioral disorders, to have a better understanding of the worse outcome of children with behavioral disorders. METHODS: Two assessments were performed, one before treatment and the second a month after the end of the therapy including the infant's symptoms (Symptom Check-list), parents' anxious and depressive symptoms (Hospital Anxiety and Depression scale) and mother-infant interactions (Crittenden Experimental Index of adult-infant relationship). The therapeutic alliance was assessed by the therapist and the parents after the first consultation (Working Alliance Inventory). RESULTS: The assessments after therapy show complete or partial improvement in the child's symptoms, in the mother's anxious and depressive symptoms and in the father's anxious symptoms. During interaction, the mothers become more sensible, the number of controlling and of unresponsive mothers decrease, while the children become more cooperative and less passive. Initial characteristics and outcome are however different according to the type of the child's disorder. The children with behavioral disorders are older and present an association of several symptoms. The disorder onset is later. Their mothers are, before therapy, more anxious and depressive. The therapeutic alliance is weaker. After therapy, despite the fact that their mothers' affective state and that interactive behavior improves, the mothers are more anxious and less sensible, while the children no longer differ from the group without behavioral disorder from the point of view of opposition (assessed during mother-child interaction). CONCLUSION: Although this study is limited by the lack of a control group and the sample size, it underlines some particularities of infants and toddlers presenting behavioral disorders and the difficulties involved in their treatment. One can wonder if these characteristics are specific of the behavioral disorders or if they are the result of an older dysfunction, complicated by the developmental evolution of the child and the duration of the difficulties. The small number of cases, among the children with behavioral disorders, presenting a preexistent functional disorder, the absence of difference in the duration of the disorders, and the different disorder's onset plead in favor of the first hypothesis. The behavioral disorders often associate child psychopathology, dysfunctional parents-child-relationships and environmental factors difficult to modify with a brief therapy focused on the relationship. It would appear necessary to develop specific treatments for this population.
Asunto(s)
Trastornos de la Conducta Infantil/diagnóstico , Trastornos de la Conducta Infantil/terapia , Terapia Familiar , Relaciones Madre-Hijo , Relaciones Profesional-Familia , Psicoterapia Breve , Trastornos Somatomorfos/diagnóstico , Adulto , Trastornos de Ansiedad/diagnóstico , Trastornos de Ansiedad/psicología , Trastornos de Ansiedad/terapia , Déficit de la Atención y Trastornos de Conducta Disruptiva/diagnóstico , Déficit de la Atención y Trastornos de Conducta Disruptiva/psicología , Déficit de la Atención y Trastornos de Conducta Disruptiva/terapia , Trastornos de la Conducta Infantil/psicología , Preescolar , Trastorno Depresivo/diagnóstico , Trastorno Depresivo/psicología , Trastorno Depresivo/terapia , Femenino , Humanos , Lactante , Masculino , Apego a Objetos , Padres/psicología , Determinación de la Personalidad , Proyectos Piloto , Trastornos Somatomorfos/psicología , Trastornos Somatomorfos/terapia , Resultado del TratamientoRESUMEN
The coronavirus disease 2019 (COVID-19) pandemic has caused a real disruption of children's lives. Children with neurodevelopmental disorders and their parents seem to be particularly vulnerable to adverse mental health effects due to lockdown policies. This study explores the psychological state of children with Attention Deficit Hyperactivity Disorder (ADHD) and their parents during the first lockdown in France. A national prospective cross-sectional parent-reported study was conducted using an online survey disseminated through different social networks of French ADHD associations during the first lockdown. The survey consisted of open-ended, multiple-choice questions and standardized questionnaires such as the Strengths and Difficulties Questionnaire (SDQ), the coping self-report questionnaire (Brief COPE) and the Patient Health Questionnaire-2 (PHQ-2). A total of 538 parents completed the online survey between the 6th and the 15th of April 2020. These results suggest that most children (65.29%) did not experience a worsening of their behavior but still had pathological levels of hyperactivity (56.47%) and behavioral (57.60%) symptoms at the time of the first lockdown. In addition, some parents (26.27%) showed responses indicating possible major depressive disorder. Positive parental coping strategies were associated with both improved child behavior and fewer parental depressive symptoms. Strengthening parents' coping strategies may be an effective intervention to protect both parents and children with ADHD from the negative psychological effects of lockdown. In times of pandemic, psychological care modalities must evolve to provide quality online interventions for families of children with ADHD.
RESUMEN
BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is frequently associated with emotional dysregulation (ED). ED is characterized by excessive and inappropriate emotional reactions compared to social norms, uncontrolled and rapid shifts in emotion, and attention focused on emotional stimuli. Few studies have evaluated non-pharmacological interventions to improve ED in children with ADHD. The current randomized controlled trial assesses the efficacy of a cognitive behavioral therapy (CBT) intervention compared with a theater-based intervention (TBI) in children with ADHD and ED. METHODS: Sixty-eight 7- to 13-year-old children with ADHD and ED will be recruited and randomly assigned to the CBT or TBI group. CBT aims to reduce ED by teaching anger management strategies. TBI seeks to reduce ED by improving emotion understanding and expression through mimics and movement. In both groups, children participate in 15 1-h sessions, and parents participate in 8 sessions of a parent management program. The primary outcome measure is the change in the "Aggression" sub-score of the Child Behavior Checklist (CBCL). Secondary outcome measures include overall impairment (Children's Global Assessment Scale, Strengths and Difficulties Questionnaire), personality profile (Hierarchical Personality Inventory for Children), executive function (Behavioral Rating Inventory of Executive Function), quality of life (Kidscreen-27), parental stress (Parenting Stress Index, 4th edition), parental depression (Beck Depression Inventory-II), and impact of child disorders on the quality of the family life (Parental Quality of Life and Developmental Disorder). DISCUSSION: Children with ADHD and ED are at risk of functional impairment and poor outcomes and have specific therapeutic needs. This randomized controlled trial wants to assess non-pharmacological treatment options for this population. TRIAL REGISTRATION: Clinicaltrials.gov. NCT03176108 . Registered on June 5, 2017.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Terapia Cognitivo-Conductual , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/terapia , Niño , Emociones , Humanos , Responsabilidad Parental , Padres , Calidad de Vida , Ensayos Clínicos Controlados Aleatorios como Asunto , Resultado del TratamientoRESUMEN
AIM OF THE STUDY: The implantation of biological prostheses in an at-risk environment has seen increasing use. Their markedly higher cost compared to synthetic prostheses makes it important to analyse their usefulness in terms of actual benefit and cost-effectiveness. This study aims to examine the relevance of bioprostheses during surgical repair of Grade II/III ventral hernias as classified by the Ventral hernia working group (VHWG). MATERIALS AND METHODS: This study analysed the data of 119 patients requiring non-emergency repair of VHWG II/III grade hernias between 2010 and 2017. The results of patients who were treated with a bioprosthesis (n=59) were compared to those receiving a synthetic prosthesis (n=60). The primary outcome was surgical site infection (SSI) at 90 days. The secondary endpoints were hernia recurrence rate, cost of the prosthesis, duration of hospital stay and re-hospitalisation rate. RESULTS: The two groups were shown to be comparable by analysis of demographic, pre- and intraoperative data. The SSI rate was significantly higher in the bioprosthesis group (20% vs. 7%; P=0.010), as was the recurrence rate (56% vs. 28%; P=0.003) with a median follow-up of 40 months. The cost of the bioprosthesis was significantly higher than that of the synthetic prosthesis (3363 vs. 249; P<0.010). CONCLUSION: In this retrospective study, the use of a bioprosthesis for repair of VHWG II/III ventral hernias was associated with a higher rate of both SSI and hernia recurrence at a cost 13 times greater than the use of a synthetic prosthesis.