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1.
Sci Rep ; 14(1): 8354, 2024 04 09.
Artículo en Inglés | MEDLINE | ID: mdl-38594272

RESUMEN

Sleep and circadian rhythm disorders are very common in adolescents and have been linked to suicidal ideation. However, little is known about adolescent sleep before a suicide attempt (SA). The objectives of this study were to compare the sleep of adolescents aged 13 to 18 over a period of 4 weeks before a SA compared to a non-SA group, then to analyze the association between sleep, support social and well-being based on information from validated questionnaires. In 2015, 250 adolescents were included, 55 were recruited the day after a SA in French hospitals (before SA evaluations were retrospective). Logistic regression analyzes showed that during school days, bedtime was equivalent in both groups, but sleep onset latency was significantly longer in SA (86 min vs. 52 min, p = 0.016), and wake-up time was earlier (6 h 22 vs. 6 h 47, p = 0.002), resulting in a shorter total sleep time of 44 min (OR = 0.76, CI 95% [0.61-0.93]) the month preceding SA. Adolescents with longer sleep time performed better on perceived psychological well-being (p = 0.005), relationship with parents (p = 0.011) and school environment (p < 0.001). Results indicate a significant change in the quantity and quality of adolescents' subjective sleep in the 4 weeks preceding SA requiring objective measures to study the predictive properties of sleep in SA.


Asunto(s)
Sueño , Intento de Suicidio , Humanos , Adolescente , Intento de Suicidio/psicología , Estudios Retrospectivos , Ideación Suicida , Ritmo Circadiano , Factores de Riesgo
2.
Encephale ; 50(2): 185-191, 2024 Apr.
Artículo en Francés | MEDLINE | ID: mdl-37604714

RESUMEN

Sleep in extreme situations has been little studied. The artist Abraham Poincheval (AP) is known for his performances in confined spaces. For his show at the Perrotin Gallery in Paris, he was enclosed for 8days and 7nights in a metal sculpture of his body in a seated position, with his head facing a work by Hans Hartung at the end of a cone system placed in front of his eyes which occluded all other visual stimuli. The interior of the metal structure was not padded and there was no head support. His sleep and internal temperature were continuously recorded using polysomnography (Grael, Compumedics) and an orally swallowed temperature sensitive capsule (Bodycap) with temperature sampling every 2min. AP slept an average of 355.1min/24h, composed of light slow-wave sleep (N1: 47.1min, N2: 192.2min), deep slow-wave sleep (N3: 100.4min), and REM sleep 4,3 % (15.4min). Sleep, although mostly nocturnal, was split into periods of no more than 20min. Deep sleep was therefore remarkably resistant to the uncomfortable experimental conditions, while REM sleep was markedly impaired, lasting only a few short minutes and followed by rapid awakening. This is probably due to the head position within the sculpture which was unsupported, so REM sleep with its inherent muscle atonia led to involuntary head flexion and was impossible to sustain for long. The thermal minimum was between 5:17 a.m. and 6:35 a.m. The amplitude of the core temperature decreased by more than 30 % between the beginning and the end of the protocol. Despite the immobility induced by the confined experimental conditions, there was no desynchronization of circadian rhythms. The sleep time was surprisingly long given the conditions, and slow-wave sleep was relatively preserved with an amount typically found in normal subjects while REM sleep was markedly impaired. Slow-wave sleep is clearly preserved underlying its central role in physical and mental homeostasis. REM sleep is clearly more fragile. The reduction in REM sleep linked to position has been found in a study of sleep in the sitting position in airplanes where loss of muscle tonus in the neck fragments REM sleep. Techniques for selective REM sleep deprivation also use muscle atonia: one of the initial techniques of selective REM sleep deprivation relied on muscle atonia in REM causing a cat to fall from a small perch into water. In man, the lack of head support is clearly a source of REM fragmentation. However in the case of this study, we cannot exclude an effect of other factors, notably the meditative techniques used by the performer to maintain attention on the painting, described as a dream state punctuated by visual hallucinations. Surprisingly, despite physical isolation within the sculpture, AP's biological rhythms remained stable. However, the conditions were not those of complete isolation: noise, the presence of the public in the gallery who occasionally talked to AP through the sculpture, and variations in light during the day were all temporal cues. In addition, a heatwave during the performance raised the temperature in the room with reduced total sleep time on the hottest night. Although the phase of the circadian rhythm measured by the internal temperature did not change, the amplitude fell which is compatible with reduced physical activity. In conclusion, under physically constraining and uncomfortable sleep conditions, deep sleep is maintained while REM sleep is starkly reduced. From a homeostatic point of view, this means that over a short period of time, in a survival situation, energy recovery through deep slow-wave sleep takes priority over REM sleep.


Asunto(s)
Sedestación , Privación de Sueño , Humanos , Masculino , Ritmo Circadiano/fisiología , Polisomnografía , Sueño/fisiología , Sueño REM/fisiología
4.
Healthcare (Basel) ; 11(22)2023 Nov 12.
Artículo en Inglés | MEDLINE | ID: mdl-37998445

RESUMEN

The court trial of the 14th of July 2016 terrorist attack in Nice (France) opened in September 2022 and ended in December 2022. Engaging in court proceedings, whether as a victim or a witness, can lead to a significant risk of traumatic reactivation (i.e., the re-emergence of post-traumatic stress symptoms). The present protocol aimed to improve knowledge of the pathophysiology of traumatic reactivation due to the media coverage of the trial by assessing sleep disturbances and somatic symptoms that could reappear if there is a traumatic reactivation. Method and Analysis: This is a monocentric longitudinal study, with recruitment solely planned at the Nice Pediatric Psychotrauma Center (NPPC). We intended to include 100 adolescents aged 12 to 17 years who were directly or indirectly exposed to the attack and included in the "14-7" program). Assessments began one month before the trial, in August 2022, and were scheduled once a month until the end of the trial. A smartwatch recorded sleep activity. Somatic and PTSD symptoms and sleep were assessed through validated questionnaires. The main analyses comprised the variance and regression analyses of predictors of clinical evolution over time. Ethics and Dissemination: The National Ethics Committee "NORD OUEST III" approved the "14-7" program protocol (number 2017-A02212-51). The specific amendment for this research was approved in April 2022 by the same national ethical committee. Inclusions started in August 2022.

5.
Sci Rep ; 13(1): 17687, 2023 10 17.
Artículo en Inglés | MEDLINE | ID: mdl-37848536

RESUMEN

Autism spectrum disorder (ASD) are neurodevelopmental conditions characterised by deficits in social communication and interaction and repetitive behaviours. Maternal immune activation (MIA) during the mid-pregnancy is a known risk factor for ASD. Although reported in 15% of affected individuals, little is known about the specificity of their clinical profiles. Adaptive skills represent a holistic approach to a person's competencies and reflect specifically in ASD, their strengths and difficulties. In this study, we hypothesised that ASD individual with a history of MIA (MIA+) could be more severely socio-adaptively impaired than those without MIA during pregnancy (MIA-). To answer this question, we considered two independent cohorts of individuals with ASD (PARIS study and FACE ASD) screened for pregnancy history, and used supervised and unsupervised machine learning algorithms. We included 295 mother-child dyads with 14% of them with MIA+. We found that ASD-MIA+ individuals displayed more severe maladaptive behaviors, specifically in their socialization abilities. MIA+ directly influenced individual's socio-adaptive skills, independent of other covariates, including ASD severity. Interestingly, MIA+ affect persistently the socio-adaptive behavioral trajectories of individuals with ASD. The current study has a retrospective design with possible recall bias regarding the MIA event and, even if pooled from two cohorts, has a relatively small population. In addition, we were limited by the number of covariables available potentially impacted socio-adaptive behaviors. Larger prospective study with additional dimensions related to ASD is needed to confirm our results. Specific pathophysiological pathways may explain these clinical peculiarities of ASD- MIA+ individuals, and may open the way to new perspectives in deciphering the phenotypic complexity of ASD and for the development of specific immunomodulatory strategies.


Asunto(s)
Trastorno del Espectro Autista , Efectos Tardíos de la Exposición Prenatal , Embarazo , Femenino , Humanos , Estudios Retrospectivos , Estudios Prospectivos , Adaptación Psicológica
6.
J Clin Med ; 12(20)2023 Oct 17.
Artículo en Inglés | MEDLINE | ID: mdl-37892709

RESUMEN

RATIONALE: Sleep disturbances (insomnia and nightmare symptoms) are the most sensitive and persistent symptoms of pediatric post-traumatic stress disorder (PTSD). Untreated, these sleep disturbances (SD) associated with PTSD are predictive of PTSD persistence and increased psychiatric complications. The aim of this study was to evaluate sleep and circadian rhythms in children with PTSD under both laboratory and ecological conditions in comparison with a control population and to test for the first time the hypothesis that SD and circadian rhythms are positively correlated with PTSD severity and its comorbidities. METHOD: This prospective pilot study evaluated PTSD, SD (insomnia, nightmares), and sleep-wake rhythms in 11 children with PTSD (aged 3-18), compared with the age and sex-matched control groups. Assessment of PTSD and subjective and objective measures of sleep and sleep-wake rhythms (questionnaires, 24-h in-laboratory video-polysomnography, 15-day at-home actigraphy recording) were performed between 1 and 6 months after the traumatic event. RESULTS: Children with PTSD had higher sleep fragmentation (increased wake-after-sleep onset, increased number of sleep stage changes) compared to controls, with a change in sleep microarchitecture (micro-arousal index at 14.8 versus 8.2, p = 0.039). Sleep fragmentation parameters correlated with PTSD symptomatology, insomnia, and post-traumatic nightmare severity. The within-group comparison revealed a better sleep architecture in the controlled (sleep laboratory) than in the ecological condition (at home) (total sleep time 586 versus 464 min, p = 0.018). CONCLUSIONS: Sleep and rhythm disturbances are strongly associated with PTSD in children. The assessment of SD in children with PTSD should be carried out systematically and preferentially under ecological conditions, and management of SD should integrate the environment (environmental design, psycho-education for the children and their parents) more fully into therapy focused on sleep and trauma.

7.
Diabetes Care ; 46(7): 1379-1387, 2023 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-37140887

RESUMEN

OBJECTIVE: We investigated the incidence of pediatric type 2 diabetes (T2D) in Germany during 2 years of the coronavirus disease 2019 (COVID-19) pandemic (2020-2021) compared with the control period 2011-2019. RESEARCH DESIGN AND METHODS: Data on T2D in children (aged 6 to <18 years) were obtained from the DPV (German Diabetes Prospective Follow-up) Registry. Poisson regression was used to estimate incidences for 2020 and 2021 based on data from 2011 to 2019, and these were compared with observed incidences in 2020 and 2021 by estimating incidence rate ratios (IRRs) with 95% CIs. RESULTS: Incidence of youth-onset T2D increased from 0.75 per 100,000 patient-years (PYs) in 2011 (95% CI 0.58, 0.93) to 1.25 per 100,000 PYs in 2019 (95% CI 1.02, 1.48), an annual increase of 6.8% (95% CI 4.1, 9.6). In 2020, T2D incidence increased to 1.49 per 100,000 PYs (95% CI 1.23, 1.81), which was not significantly higher than predicted (IRR 1.15; 95% CI 0.90, 1.48). In 2021, the observed incidence was significantly higher than expected (1.95; 95% CI 1.65, 2.31 vs. 1.38; 95% CI 1.13, 1.69 per 100,000 PYs; IRR 1.41; 95% CI 1.12, 1.77). Although there was no significant increase in incidence in girls in 2021, the observed incidence in boys (2.16; 95% CI 1.73, 2.70 per 100,000 PYs) significantly exceeded the predicted rate (IRR 1.55; 95% CI 1.14, 2.12), leading to a reversal of the sex ratio of pediatric T2D incidence. CONCLUSIONS: In Germany, incidence of pediatric T2D increased significantly in 2021. Adolescent boys were more affected by this increase, resulting in a reversal of the sex ratio of youth-onset T2D.


Asunto(s)
COVID-19 , Diabetes Mellitus Tipo 2 , Masculino , Femenino , Niño , Humanos , Adolescente , Diabetes Mellitus Tipo 2/epidemiología , Incidencia , Razón de Masculinidad , Estudios Prospectivos , COVID-19/epidemiología , Alemania/epidemiología
8.
J Clin Endocrinol Metab ; 108(10): e998-e1006, 2023 09 18.
Artículo en Inglés | MEDLINE | ID: mdl-37097907

RESUMEN

CONTEXT: Burosumab has been approved for the treatment of children and adults with X-linked hypophosphatemia (XLH). Real-world data and evidence for its efficacy in adolescents are lacking. OBJECTIVE: To assess the effects of 12 months of burosumab treatment on mineral metabolism in children (aged <12 years) and adolescents (aged 12-18 years) with XLH. DESIGN: Prospective national registry. SETTING: Hospital clinics. PATIENTS: A total of 93 patients with XLH (65 children, 28 adolescents). MAIN OUTCOME MEASURES: Z scores for serum phosphate, alkaline phosphatase (ALP), and renal tubular reabsorption of phosphate per glomerular filtration rate (TmP/GFR) at 12 months. RESULTS: At baseline, patients showed hypophosphatemia (-4.4 SD), reduced TmP/GFR (-6.5 SD), and elevated ALP (2.7 SD, each P < .001 vs healthy children) irrespective of age, suggesting active rickets despite prior therapy with oral phosphate and active vitamin D in 88% of patients. Burosumab treatment resulted in comparable increases in serum phosphate and TmP/GFR in children and adolescents with XLH and a steady decline in serum ALP (each P < .001 vs baseline). At 12 months, serum phosphate, TmP/GFR, and ALP levels were within the age-related normal range in approximately 42%, 27%, and 80% of patients in both groups, respectively, with a lower, weight-based final burosumab dose in adolescents compared with children (0.72 vs 1.06 mg/kg, P < .01). CONCLUSIONS: In this real-world setting, 12 months of burosumab treatment was equally effective in normalizing serum ALP in adolescents and children, despite persistent mild hypophosphatemia in one-half of patients, suggesting that complete normalization of serum phosphate is not mandatory for substantial improvement of rickets in these patients. Adolescents appear to require lower weight-based burosumab dosage than children.


Asunto(s)
Raquitismo Hipofosfatémico Familiar , Hipofosfatemia , Adulto , Humanos , Niño , Adolescente , Raquitismo Hipofosfatémico Familiar/tratamiento farmacológico , Anticuerpos Monoclonales/uso terapéutico , Anticuerpos Monoclonales/efectos adversos , Estudios Prospectivos , Fosfatos , Factores de Crecimiento de Fibroblastos , Minerales
9.
Lancet Diabetes Endocrinol ; 11(5): 314-323, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-37004710

RESUMEN

BACKGROUND: The effect of continuous glucose monitoring on the risk of severe hypoglycaemia and ketoacidosis in patients with diabetes is unclear. We investigated whether rates of acute diabetes complications are lower with continuous glucose monitoring, compared with blood glucose monitoring, and which metrics predict its risk in young patients with type 1 diabetes. METHODS: In this population-based cohort study, patients were identified from 511 diabetes centres across Austria, Germany, Luxembourg, and Switzerland participating in the Diabetes Prospective Follow-up initiative. We included people with type 1 diabetes aged 1·5-25·0 years, with a diabetes duration of more than 1 year, who had been treated between Jan 1, 2014, and June 30, 2021, and had an observation time of longer than 120 days in the most recent treatment year. Severe hypoglycaemia and ketoacidosis rates during the most recent treatment year were examined in people using continuous glucose monitoring and in those using blood glucose monitoring. Adjustments of statistical models included age, sex, diabetes duration, migration background, insulin therapy (pump or injections), and treatment period. Rates of severe hypoglycaemia and diabetic ketoacidosis were evaluated by several continuous glucose monitoring metrics, including percentage of time below target glucose range (<3·9 mmol/L), glycaemic variability (measured as the coefficient of variation), and mean sensor glucose. FINDINGS: Of 32 117 people with type 1 diabetes (median age 16·8 years [IQR 13·3-18·1], 17 056 [53·1%] males), 10 883 used continuous glucose monitoring (median 289 days per year), and 21 234 used blood glucose monitoring. People using continuous glucose monitoring had lower rates of severe hypoglycaemia than those using blood glucose monitoring (6·74 [95% CI 5·90-7·69] per 100 patient-years vs 8·84 [8·09-9·66] per 100 patient-years; incidence rate ratio 0·76 [95% CI 0·64-0·91]; p=0·0017) and diabetic ketoacidosis (3·72 [3·32-4·18] per 100 patient-years vs 7·29 [6·83-7·78] per 100 patient-years; 0·51 [0·44-0·59]; p<0·0001). Severe hypoglycaemia rates increased with percentage of time below target glucose range (incidence rate ratio 1·69 [95% CI 1·18-2·43]; p=0·0024, for 4·0-7·9% vs <4·0% and 2·38 [1·51-3·76]; p<0·0001, for ≥8·0% vs <4·0%) and glycaemic variability (coefficient of variation ≥36% vs <36%; incidence rate ratio 1·52 [95% CI 1·06-2·17]; p=0·022). Diabetic ketoacidosis rates increased with mean sensor glucose (incidence rate ratio 1·77 [95% CI 0·89-3·51], p=0·13, for 8·3-9·9 mmol/L vs <8·3 mmol/L; 3·56 [1·83-6·93], p<0·0001, for 10·0-11·6 mmol/L vs <8·3 mmol/L; and 8·66 [4·48-16·75], p<0·0001, for ≥11·7 mmol/L vs <8·3 mmol/L). INTERPRETATION: These findings provide evidence that continuous glucose monitoring can reduce severe hypoglycaemia and ketoacidosis risk in young people with type 1 diabetes on insulin therapy. Continuous glucose monitoring metrics might help to identify those at risk for acute diabetes complications. FUNDING: German Center for Diabetes Research, German Federal Ministry of Education and Research, German Diabetes Association, and Robert Koch Institute.


Asunto(s)
Automonitorización de la Glucosa Sanguínea , Glucemia , Diabetes Mellitus Tipo 1 , Cetoacidosis Diabética , Glucemia/análisis , Hipoglucemia/epidemiología , Hipoglucemia/prevención & control , Cetoacidosis Diabética/epidemiología , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/epidemiología , Humanos , Masculino , Femenino , Niño , Adolescente , Adulto Joven , Incidencia , Estudios Prospectivos
10.
Psychol Med ; 53(12): 5674-5684, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-36177672

RESUMEN

BACKGROUND: While adult outcome in autism spectrum disorder (ASD) is generally measured using socially valued roles, it could also be understood in terms of aspects related to health status - an approach that could inform on potential gender differences. METHODS: We investigated gender differences in two aspects of outcome related to health-status, i.e. general functioning and self-perceived health status, and co-occurring health conditions in a large multi-center sample of autistic adults. Three hundred and eighty-three participants were consecutively recruited from the FondaMental Advanced Centers of Expertise for ASD cohort (a French network of seven expert centers) between 2013 and 2020. Evaluation included a medical interview, standardized scales for autism diagnosis, clinical and functional outcomes, self-perceived health status and verbal ability. Psychosocial function was measured using the Global Assessment of Functioning scale. RESULTS: While autistic women in this study were more likely than men to have socially valued roles, female gender was associated with poorer physical and mental health (e.g. a 7-fold risk for having three or more co-occurring physical health conditions) and a poorer self-perceived health status. Psychosocial function was negatively associated with depression and impairment in social communication. Half of the sample had multiple co-occurring health conditions but more than 70% reported that their visit at the Expert Center was their first contact with mental health services. CONCLUSIONS: To improve objective and subjective aspects of health outcome, gender differences and a wide range of co-occurring health conditions should be taken into account when designing healthcare provision for autistic adults.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Masculino , Humanos , Adulto , Femenino , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/complicaciones , Autoinforme , Factores Sexuales , Estado de Salud
11.
Front Psychiatry ; 14: 1149580, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38173703

RESUMEN

Introduction: Autism Spectrum Disorder (ASD) diagnosis is relatively consensual in typical forms. The margins of the spectrum and their degree of extension, however, are controversial. This has far-reaching implications, which extend beyond theoretical considerations: first, peripheral forms of autism are more prevalent than central forms; second, we do not know how relevant typical-targeted recommendations are for atypical forms. In DSM-IV-TR, these margins of autism were studied within the category of Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS). In spite of its low reliability, this former diagnosis was of particular interest to shed light on the gray area of margins. The aim of this systematic is therefore to investigate the clinical characteristics of PDD-NOS in comparison with Autistic Disorder. Method: A stepwise systematic PRISMA literature review was conducted by searching PubMed and Web Of Science databases to select corresponding studies. Results: The systematic review included 81 studies comprising 6,644 children with PDD-NOS. Cross-sectional and longitudinal studies comparing PDD-NOS and AD showed that PDD-NOS corresponds to milder form of autism with less impact and less associated disorder, with the exception of schizophrenia and mood disorder. Discussion: Our review challenges initial views of PDD-NOS, and shows the clinical relevance of this diagnosis when dealing with the margins of autism, and the de facto diversity included in the spectrum. However, in view of the many limitations of PDD-NOS (low reliability, instability through time, low acceptability), we suggest taxonomic changes in DSM-5: we introduce a new category based on three main dimensions related to socialization impairment, emotional lability and psychotic symptoms. Conclusion: Our review argues for a distinction between AD and PDD-NOS on clinical characteristics and thus highlights the need to study the margins of autism. While the limitations of the PDD-NOS category made it irrelevant to investigate these margins from a research perspective, we believe that a multidimensional approach for mental health professionals taping socialization, emotion lability and psychotic symptoms would be interesting. Our review therefore encourage future studies to test relevant criteria for a new category and possibly identify developmental trajectories, specific interventions and treatments.

12.
Nat Sci Sleep ; 14: 1927-1944, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36325278

RESUMEN

Sleep is a vital physiological function that is impaired in ranges from 10% in the typically developing pediatric population to over 80% in populations of children with neurodevelopmental disorders and/or psychiatric comorbidities. Pediatric insomnia disorder is an increasing public health concern given its negative impact on synaptic plasticity involved in learning and memory consolidation but also on mood regulation, hormonal development and growth, and its significant impact on quality of life of the child, the adolescent and the family. While first-line treatment of pediatric insomnia should include parental education on sleep as well as sleep hygiene measures and behavioural treatment approaches, pharmacological interventions may be necessary if these strategies fail. Melatonin treatment has been increasingly used off-label in pediatric insomnia, given its benign safety profile. This article aims to identify the possible role of melatonin treatment for pediatric insomnia, considering its physiological role in sleep regulation and the differential effects of immediate release (IR) versus prolonged release (PR) melatonin. For the physician dealing with pediatric insomnia, it is particularly important to be able to distinguish treatment rationales implying different dosages and times of treatment intake. Finally, we discuss the benefit-risk ratio for melatonin treatment in different pediatric populations, ranging from the general pediatric population to children with different types of neurodevelopmental disorders, such as autism spectrum disorder or ADHD.

13.
Clin Genet ; 102(4): 296-304, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35821609

RESUMEN

DYRK1A and Wiedemann-Steiner syndromes (WSS) are two genetic conditions associated with neurodevelopmental disorders (NDDs). Although their clinical phenotype has been described, their behavioral phenotype has not systematically been studied using standardized assessment tools. To characterize the latter, we conducted a retrospective study, collecting data on developmental history, autism spectrum disorder (ASD), adaptive functioning, behavioral assessments, and sensory processing of individuals with these syndromes (n = 14;21). In addition, we analyzed information collected from families (n = 20;20) using the GenIDA database, an international patient-driven data collection aiming to better characterize natural history of genetic forms of NDDs. In the retrospective study, individuals with DYRK1A syndrome showed lower adaptive behavior scores compared to those with WSS, whose scores showed greater heterogeneity. An ASD diagnosis was established for 57% (8/14) of individuals with DYRK1A syndrome and 24% (5/21) of those with WSS. Language and communication were severely impaired in individuals with DYRK1A syndrome, which was also evident from GenIDA data, whereas in WSS patients, exploration of behavioral phenotypes revealed the importance of anxiety symptomatology and ADHD signs, also flagged in GenIDA. This study, describing the behavioral and sensorial profiles of individuals with WSS and DYRK1A syndrome, highlighted some specificities important to be considered for patients' management.


Asunto(s)
Trastorno del Espectro Autista , Trastornos del Neurodesarrollo , Anomalías Múltiples , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/genética , Anomalías Craneofaciales , Trastornos del Crecimiento , N-Metiltransferasa de Histona-Lisina/genética , Humanos , Hipertricosis , Discapacidad Intelectual , Proteína de la Leucemia Mieloide-Linfoide/genética , Trastornos del Neurodesarrollo/diagnóstico , Trastornos del Neurodesarrollo/epidemiología , Trastornos del Neurodesarrollo/genética , Fenotipo , Estudios Retrospectivos , Síndrome
14.
Diabetes Care ; 45(8): 1807-1813, 2022 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-35727029

RESUMEN

OBJECTIVE: To investigate whether socioeconomic deprivation and urbanization are associated with the frequency of diabetic ketoacidosis (DKA) at diagnosis of pediatric type 1 diabetes. RESEARCH DESIGN AND METHODS: Children and adolescents aged ≤18 years, living in Germany, with newly diagnosed type 1 diabetes documented between 2016 and 2019 in the Diabetes Prospective Follow-up Registry (DPV; Diabetes-Patienten-Verlaufsdokumentation), were assigned to a quintile of regional socioeconomic deprivation (German Index of Socioeconomic Deprivation) and to a degree of urbanization (Eurostat) by using their residence postal code. With multiple logistic regression models, we investigated whether the frequency of DKA at diagnosis was associated with socioeconomic deprivation or urbanization and whether associations differed by age-group, sex, or migration status. RESULTS: In 10,598 children and adolescents with newly diagnosed type 1 diabetes, the frequency of DKA was lowest in the least deprived regions (Q1: 20.6% [95% CI 19.0-22.4], and increased with growing socioeconomic deprivation to 26.9% [25.0-28.8] in the most deprived regions [Q5]; P for trend <0.001). In rural areas, the frequency of DKA at diagnosis was significantly higher than in towns and suburbs (intermediate areas) or in cities (27.6% [95% CI 26.0-29.3] vs. 22.7% [21.4-24.0], P < 0.001, or vs. 24.3% [22.9-25.7], P = 0.007, respectively). The results did not significantly differ by age-group, sex, or migration background or after additional adjustment for socioeconomic deprivation or urbanization. CONCLUSIONS: This study provides evidence that prevention of DKA at diagnosis by means of awareness campaigns and screening for presymptomatic type 1 diabetes should particularly target socioeconomically disadvantaged regions and rural areas.


Asunto(s)
Diabetes Mellitus Tipo 1 , Cetoacidosis Diabética , Adolescente , Niño , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/epidemiología , Cetoacidosis Diabética/diagnóstico , Cetoacidosis Diabética/epidemiología , Cetoacidosis Diabética/etiología , Humanos , Estudios Prospectivos , Sistema de Registros , Factores Socioeconómicos , Urbanización
15.
BMC Psychiatry ; 22(1): 323, 2022 05 06.
Artículo en Inglés | MEDLINE | ID: mdl-35524241

RESUMEN

BACKGROUND: Previous studies about Quality of Life (QoL) in autistic children (ASD) have put forward the negative impact of factors such as Autism Spectrum Disorder (ASD) severity, psychiatric comorbidities and adaptive behaviour impairment. However, little is known about the relation of these factors to school adjustment, measured with the International Classification of Functions disability and health (ICF) framework (World Health Organization, 2001), and QoL evolutions. Thus, this study aimed at investigating the determinants of behaviours, school adjustment and QoL changes in 32 children in an ASD inclusion program over one academic year. METHODS: Using Bayesian methods, we studied the impact of ASD severity, psychiatric comorbidities, adaptive behaviour level and a diagnosis of Pathological Demand Avoidance (PDA) on evolutions of behaviour, school adjustment (measured with the ICF) and QoL. RESULTS: As predicted, adequate adaptive behaviour levels were associated with better progress of behaviours and school adjustment whereas psychiatric comorbidities were related to worse outcome of school adjustment. Contrary to our hypotheses, severe ASD was associated to better evolution of adjustment at school. PDA was not discriminant. We did not find any association between the studied factors and the evolution of QoL over the academic year. CONCLUSION: Our results show that the assessment of adaptive behaviour levels, psychiatric comorbidities and ASD severity level may be useful predictors to discriminate of school adjustment evolution (assessed by teachers within the ICF model) over a one-year period in autistic children. The assessment of this time course of school adjustment was sensitive to change and adapted to differentiate evolutions in an inclusive education framework. The investigation of quality of school life of autistic children as well as its determinants may therefore be relevant to improving academic adaptation. However, further research in larger groups, over longer periods and in different personalized school settings for autistic children is needed.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Adaptación Psicológica , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/psicología , Trastorno Autístico/diagnóstico , Teorema de Bayes , Niño , Humanos , Clasificación Internacional del Funcionamiento, de la Discapacidad y de la Salud , Calidad de Vida
16.
Front Psychiatry ; 13: 793291, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35392384

RESUMEN

Introduction: Since 2014, the profiles of radicalized individuals have changed with the appearance of radical groups composed of a large proportion of adolescents. Various individual, relational, and social vulnerabilities have been identified as being involved in the radicalization process of adolescents. Among these factors, it appears that early and repeated history of personal and/or family psychotraumatism may constitute factors of vulnerability to violent radicalization. Material and Methods: The clinical situation of a 17-year-old woman convicted of "links with a terrorist group (DAECH)" was recruited from the 130 radicalized young people followed by the teams of the Maison des Adolescents and the Child and Adolescent Psychiatry Service of the University Hospitals of Strasbourg since May 2015. Based on the analysis of this clinical case, we present the hypothesis that post-traumatic antecedents can constitute vulnerability factors to violent radicalization, and that post-traumatic symptoms can be "used" by recruiters of radical movements at different moments of the radicalization process by reactivating post-traumatic psychic mechanisms, but also, for a smaller number of subjects, by the induction of the trauma (viewing of propaganda videos). Results: We show a possible link between violent radicalization and complex psycho-traumatism with an impact of the reactivation of post-traumatic mechanisms such as (i) the activation of the autonomic nervous system and emotional dysregulation on violent acts, (ii) the activation of dissociation mechanisms (psychic sideration and post-traumatic amnesia) on indoctrination and violent acts, (iii) the activation of control mechanisms on the search for a strict framework of life and a radical ideology and (iv) relational avoidance on the processes of relational rupture and radical socialization. Thus, we highlight that the radicalization process can respond to the needs and psychic functioning of psycho-traumatized individuals (channeling tensions, being recognized and active in one's life). Discussion: We discuss the central role of propaganda videos in the activation of the ANS and dissociation, and the self-perpetuating process between these two posttraumatic mechanisms. We also discuss clinical and therapeutic perspectives (therapies targeting complex psychotrauma). Conclusion: Psychotrauma can promote radicalization due to vulnerability mechanisms. Treatments targeting psychotrauma may be one of the ways to get these young people out of violent radicalization.

17.
Autism Res ; 15(5): 945-956, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35234355

RESUMEN

COVID-related lockdown led to a radical modification of daily activities and routines which are known to affect sleep. Compared to the general population, participants with autism may be particularly vulnerable to the repercussions of lockdown on sleep, given their intrinsic inflexible adherence to routines and the high overall prevalence of sleep disturbances in this population. The study is a French nation-wide online survey assessing sleep-wake rhythms and behaviors known to affect sleep (daily screen time, daylight exposure, and physical activity), before and during COVID-related lockdown. Respondents were 207 adults with autism (56% female) and 1652 adults of the general population (77% female), with a mean age 35.3 years (SD 11.3). Before lockdown, the adults with autism displayed on average later bedtime and waking hours, lower sleep quality, more evening screen time, less exposure to daylight, and less exercise (all p < 0.01). Lockdown affected all studied measures of sleep and related exposures in a similar way in both groups: poorer self-rated sleep quality as well as a less regular and delayed sleep-wake rhythm, longer screen time in the evening and less exposure to daylight (all p < 0.001). Adults with autism displayed significantly higher levels of sleep and circadian rhythm disturbances and less favorable daily routines known to regulate sleep. While the effect of confinement on sleep and sleep related behaviors was similar in both groups, the results highlight that the pre-existing shift in circadian rhythms and lifestyles in adults with ASD further deteriorated during lockdown. LAY ABSTRACT: COVID-related lockdown led to a radical modification of daily activities and routines known to affect sleep. In a sample of 1800 adults, we observed that, before lockdown, participants with autism displayed significantly higher levels of sleep disturbances and less favorable daily routines known to regulate sleep, compared to the general population. While the deleterious effect of lockdown on sleep was similar in both groups, pre-existing difficulties in adults with autism reached worrying levels during lockdown.


Asunto(s)
Trastorno del Espectro Autista , COVID-19 , Trastornos del Sueño-Vigilia , Adulto , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/epidemiología , Control de Enfermedades Transmisibles , Femenino , Humanos , Masculino , Sueño , Trastornos del Sueño-Vigilia/epidemiología
18.
J Autism Dev Disord ; 52(8): 3758-3768, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34463899

RESUMEN

Between 50-80% of children with autism spectrum disorder (ASD) have insomnia, which adversely affects their mental and physical health. However, there is no consensus to-date on suitable tools for insomnia screening and monitoring in daily clinical practice. An expert panel of child neuropsychiatry and sleep specialists, with expertise in children with neurodevelopmental disabilities, recommends: (1) performing insomnia screening of all children with ASD; (2) considering discussion or referral to a sleep specialist when comorbid sleep disorders are suspected. The panel further developed structured, brief screening and monitoring tools to facilitate insomnia screening and management in daily practice, monitor treatment effectiveness and standardize and compare outcomes across clinical settings to improve care and well-being of children with ASD and their families.


Asunto(s)
Trastorno del Espectro Autista , Tamizaje Masivo , Trastornos del Inicio y del Mantenimiento del Sueño , Adolescente , Trastorno del Espectro Autista/epidemiología , Niño , Humanos , Tamizaje Masivo/métodos , Trastornos del Inicio y del Mantenimiento del Sueño/diagnóstico
19.
J Sleep Res ; 31(2): e13480, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-34490948

RESUMEN

The full 2-month lockdown to fight the coronavirus disease 2019 (COVID-19) pandemic in 2020 led to substantial disruption of daily life and routines. The present study aimed to comprehensively identify the lockdown's effects on sleep, daily rhythms and emotions of the French population. A survey was published online during the last week of the 2-month full lockdown and 1,627 individuals completed the online survey. The survey was self-administered and included standardised questionnaires. Sleep schedules were delayed during lockdown in more than half of the participants. New severe delayed sleep phase affected 10% of participants with sleep schedules delayed by ≥3 hr during the lockdown compared to before. A significant decrease in exposure to morning (p < 0.001) and evening natural light (p < 0.001), a significant increase in screen exposure time (with a significant screen exposure >3 hr during the evening for 45% of the participants during lockdown versus 18% before lockdown, p < 0.001), an increase in substance use for one-quarter of participants, a poorer sleep quality in 56% of participants, and less regular sleep schedules in 48% of participants were observed. We also found a poorer sleep quality in women than men during lockdown (p = 0.004). The French full lockdown had a severe impact on sleep quality, sleep-wake rhythms, and sleep behaviours. The implementation of public health strategies for the prevention and care of sleep-wake cycles during lockdown are therefore essential.


Asunto(s)
COVID-19 , COVID-19/prevención & control , Ritmo Circadiano , Control de Enfermedades Transmisibles , Femenino , Humanos , Masculino , SARS-CoV-2 , Sueño
20.
Nat Sci Sleep ; 13: 1913-1919, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34720600

RESUMEN

OBJECTIVE/BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare but well-recognized ciliopathy with high genetic and phenotypic heterogeneity. Cardinal features include obesity, diabetes and high blood pressure (HBP), which are often associated with sleep-disordered breathing. Also, the high prevalence of blindness due to retinal dystrophy could affect circadian sleep-wake rhythms. We characterized in this cohort of adult BBS patients sleep-disordered breathing, sleep quality, daytime sleepiness and chronotype. PATIENTS AND METHODS: Thirty-two patients with genetically confirmed BBS were included in this observational single center study. Overnight respiratory polygraphy was performed for sleep apnea syndrome (SAS) in 30 patients. Quality of sleep, daytime sleepiness, fatigue and chronotype were assessed in 25 patients using Pittsburgh sleep quality index (PSQI), 14-day sleep diary (SD), Epworth sleepiness scale (ESS), Pichot fatigue scale (PFS) and Horne and Ostberg morningness-eveningness questionnaire (MEQ). RESULTS: Patients' mean age was 32±11 years and mean BMI 32.6±7.7 kg/m2. Eleven (35%) patients had HBP and 7 (22%) diabetes. Moderate to severe sleep apnea syndrome (SAS) was present in 5 (17%) and was not associated with altered sleep, daytime sleepiness or fatigue. Most of the patients (63%) evaluated their sleep as of good quality (PSQI ≤ 5). Median scores of sleep quality, daytime sleepiness and fatigue were normal (PSQI of 3.0 [2.0-6.0], ESS of 9.0 [6.0-13.0] and PFS of 8.0 [3.0-13.0], respectively). Predominant chronotypes according to MEQ were either "intermediate" (57%) or "moderate morning" (29%). None had a free running sleep-wake cycle. 14-day SD revealed overall few awakenings at night and low daytime napping. CONCLUSIONS: Given the cardiovascular risk factors, systematic screening for SAS should be considered in BBS patients, regardless of sleep and daytime vigilance complaints. None of these highly visually impaired patients had a circadian sleep-wake rhythm disorder. Further objective assessments are needed to better characterize sleep and circadian rhythms in BBS patients.

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