Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 44
Filtrar
Más filtros

Bases de datos
País/Región como asunto
Tipo del documento
Intervalo de año de publicación
1.
Neurol Neurochir Pol ; 54(1): 21-27, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31976543

RESUMEN

INTRODUCTION: Multiple sclerosis (MS) has an increasing incidence and affects a young s egment of t he population, having a major impact on patients and consequently on society. The multifactorial aetiology and pathogenesis of this disease are incompletely known at present, but autoimmune aggression has a documented mechanism. STATE OF THE ART: Since the 1990s, immunomodulatory drugs of high efficacy and a good safety profile have been launched. But the concept of NEDA (No Evidence of Disease Activity) remains the target to achieve. Thus, the new revolutionary class of monoclonal antibodies (moAbs) used in multiple medical fields, from this perspective represents a challenge even for multiple sclerosis, including the primary progressive form, for which there has been no treatment until recently. CLINICAL IMPLICATIONS: In this article, we will review monoclonal antibodies' use for MS, presenting their advantages and disadvantages, based on data accumulated since 2004 when the first monoclonal antibody was approved for active forms of the disease. FUTURE DIRECTIONS: There is still a need for personalised medicines, with a specific target, which should have fewer adverse effects and drug interactions.


Asunto(s)
Esclerosis Múltiple , Anticuerpos Monoclonales , Humanos , Factores Inmunológicos
2.
Hum Mol Genet ; 25(7): 1294-306, 2016 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-26755828

RESUMEN

Williams syndrome (WS) is a neurodevelopmental disorder caused by a genomic deletion of ∼28 genes that results in a cognitive and behavioral profile marked by overall intellectual impairment with relative strength in expressive language and hypersocial behavior. Advancements in protocols for neuron differentiation from induced pluripotent stem cells allowed us to elucidate the molecular circuitry underpinning the ontogeny of WS. In patient-derived stem cells and neurons, we determined the expression profile of the Williams-Beuren syndrome critical region-deleted genes and the genome-wide transcriptional consequences of the hemizygous genomic microdeletion at chromosome 7q11.23. Derived neurons displayed disease-relevant hallmarks and indicated novel aberrant pathways in WS neurons including over-activated Wnt signaling accompanying an incomplete neurogenic commitment. We show that haploinsufficiency of the ATP-dependent chromatin remodeler, BAZ1B, which is deleted in WS, significantly contributes to this differentiation defect. Chromatin-immunoprecipitation (ChIP-seq) revealed BAZ1B target gene functions are enriched for neurogenesis, neuron differentiation and disease-relevant phenotypes. BAZ1B haploinsufficiency caused widespread gene expression changes in neural progenitor cells, and together with BAZ1B ChIP-seq target genes, explained 42% of the transcriptional dysregulation in WS neurons. BAZ1B contributes to regulating the balance between neural precursor self-renewal and differentiation and the differentiation defect caused by BAZ1B haploinsufficiency can be rescued by mitigating over-active Wnt signaling in neural stem cells. Altogether, these results reveal a pivotal role for BAZ1B in neurodevelopment and implicate its haploinsufficiency as a likely contributor to the neurological phenotypes in WS.


Asunto(s)
Regulación del Desarrollo de la Expresión Génica , Haploinsuficiencia , Células Madre Pluripotentes Inducidas/metabolismo , Neurogénesis , Neuronas/metabolismo , Factores de Transcripción/genética , Síndrome de Williams/metabolismo , Deleción Cromosómica , Cromosomas Humanos Par 7 , Femenino , Humanos , Células Madre Pluripotentes Inducidas/fisiología , Transducción de Señal , Transcripción Genética , Transcriptoma , Síndrome de Williams/genética , Síndrome de Williams/fisiopatología
3.
J Med Genet ; 54(9): 613-623, 2017 09.
Artículo en Inglés | MEDLINE | ID: mdl-28735298

RESUMEN

BACKGROUND: Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far. METHODS: We correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOXP1 defects. We evaluated FOXP1 activity by an in vitro luciferase model and assessed protein stability in vitro by western blotting. RESULTS: Patients show ID, SLI, neuromotor delay (NMD) and recurrent facial features including a high broad forehead, bent downslanting palpebral fissures, ptosis and/or blepharophimosis and a bulbous nasal tip. Behavioural problems and autistic features are common. Brain, cardiac and urogenital malformations can be associated. More severe ID and NMD, sensorineural hearing loss and feeding difficulties are more common in patients with interstitial 3p deletions (14 patients) versus patients with monogenic FOXP1 defects (34 patients). Mutations result in impaired transcriptional repression and/or reduced protein stability. CONCLUSIONS: FOXP1-related ID syndrome is a recognisable entity with a wide clinical spectrum and frequent systemic involvement. Our data will be helpful to evaluate genotype-phenotype correlations when interpreting next-generation sequencing data obtained in patients with ID and/or SLI and will guide clinical management.


Asunto(s)
Factores de Transcripción Forkhead/genética , Discapacidad Intelectual/genética , Proteínas Represoras/genética , Trastorno del Espectro Autista/genética , Cara/anomalías , Femenino , Factores de Transcripción Forkhead/química , Factores de Transcripción Forkhead/metabolismo , Humanos , Trastornos del Lenguaje/genética , Masculino , Trastornos de la Destreza Motora/genética , Mutación , Mutación Missense , Trastornos del Neurodesarrollo/genética , Fenotipo , Estabilidad Proteica , Proteínas Represoras/química , Proteínas Represoras/metabolismo , Síndrome , Transcripción Genética
4.
J Clin Immunol ; 35(2): 168-81, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25721700

RESUMEN

MECP2 (methyl CpG binding protein 2) duplication causes syndromic intellectual disability. Patients often suffer from life-threatening infections, suggesting an additional immunodeficiency. We describe for the first time the detailed infectious and immunological phenotype of MECP2 duplication syndrome. 17/27 analyzed patients suffered from pneumonia, 5/27 from at least one episode of sepsis. Encapsulated bacteria (S.pneumoniae, H.influenzae) were frequently isolated. T-cell immunity showed no gross abnormalities in 14/14 patients and IFNy-secretion upon ConA-stimulation was not decreased in 6/7 patients. In 6/21 patients IgG2-deficiency was detected - in 4/21 patients accompanied by IgA-deficiency, 10/21 patients showed low antibody titers against pneumococci. Supra-normal IgG1-levels were detected in 11/21 patients and supra-normal IgG3-levels were seen in 8/21 patients - in 6 of the patients as combined elevation of IgG1 and IgG3. Three of the four patients with IgA/IgG2-deficiency developed multiple severe infections. Upon infections pronounced acute-phase responses were common: 7/10 patients showed CRP values above 200 mg/l. Our data for the first time show systematically that increased susceptibility to infections in MECP2 duplication syndrome is associated with IgA/IgG2-deficiency, low antibody titers against pneumococci and elevated acute-phase responses. So patients with MECP2 duplication syndrome and low IgA/IgG2 may benefit from prophylactic substitution of sIgA and IgG.


Asunto(s)
Duplicación de Gen , Infecciones/etiología , Discapacidad Intelectual Ligada al Cromosoma X/complicaciones , Discapacidad Intelectual Ligada al Cromosoma X/inmunología , Proteína 2 de Unión a Metil-CpG/genética , Fenotipo , Proteínas de Fase Aguda/metabolismo , Adolescente , Adulto , Proteína C-Reactiva/metabolismo , Niño , Preescolar , Estudios de Cohortes , Femenino , Genotipo , Humanos , Inmunidad Celular , Inmunidad Humoral , Inmunoglobulinas/sangre , Inmunoglobulinas/inmunología , Infecciones/diagnóstico , Infecciones/tratamiento farmacológico , Masculino , Discapacidad Intelectual Ligada al Cromosoma X/diagnóstico , Persona de Mediana Edad , Adulto Joven
5.
Children (Basel) ; 11(3)2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38539332

RESUMEN

Non-Suicidal Self-Injury (NSSI) involves deliberately causing harm to one's body without the intention of suicide. As the numbers of adolescents presenting NSSI have been steadily increasing during the last years, we intended to investigate adolescent patients exhibiting NSSI, admitted to our clinic-a Romanian child psychiatry inpatient clinic, over the course of five years. A total of 100 adolescents (80 females, 20 males, mean age: 14.9 years) hospitalized for various neuropsychiatric disorders and engaging in self-harm were studied. The self-harm methods most frequently used in our sample were, for the female group: cutting (all), skin tearing (76%), scratching/pinching (72%), and for males: cutting (all), wound-healing hindrance (85%), striking objects (80%). The initial motivations for NSSI were represented by distress (females 89%, males 90%) and seeking pleasure (females 84%). In terms of the roles of NSSI, it was primarily used for emotional regulation (females 89%) and anger management (males 90%). This study highlights the prevalence of self-harm in hospitalized adolescents, differences in methods and motivations between genders, and the need for more targeted therapy interventions. By documenting trends, investigating underlying motivations and functions, and proposing hypotheses for further research, our findings offer valuable insights on adolescent NSSI and have the potential to increase awareness among various clinicians and specialists who interact with adolescents, thus addressing the escalating prevalence of self-harm behaviours among teenagers.

6.
Genes (Basel) ; 14(2)2023 01 27.
Artículo en Inglés | MEDLINE | ID: mdl-36833254

RESUMEN

Orofaciodigital syndrome I (OFD1-MIM #311200) is a rare ciliopathy characterized by facial dysmorphism, oral cavity, digit, and brain malformations, and cognitive deficits. OFD1 syndrome is an X-linked dominant disorder reported mostly in females. The gene responsible for this condition, OFD1 centriole and centriolar satellite protein (OFD1), is involved in primary cilia formation and several cilia-independent biological processes. The functional and structural integrity of the cilia impacts critical brain development processes, explaining the broad range of neurodevelopmental anomalies in ciliopathy patients. As several psychiatric conditions, such as autism spectrum disorders (ASD) and schizophrenia, are neurodevelopmental in nature, their connections with cilia roles are worth exploring. Moreover, several cilia genes have been associated with behavioral disorders, such as autism. We report on a three-year-old girl with a complex phenotype that includes oral malformations, severe speech delay, dysmorphic features, developmental delay, autism, and bilateral periventricular nodular heterotopia, presenting a de novo pathogenic variant in the OFD1 gene. Furthermore, to the best of our knowledge, this is the first report of autistic behavior in a female patient with OFD1 syndrome. We propose that autistic behavior should be considered a potential feature of this syndrome and that active screening for early signs of autism might prove beneficial for OFD1 syndrome patients.


Asunto(s)
Trastorno Autístico , Ciliopatías , Síndromes Orofaciodigitales , Femenino , Humanos , Trastorno Autístico/metabolismo , Síndromes Orofaciodigitales/genética , Síndromes Orofaciodigitales/patología , Proteínas/genética , Centriolos , Ciliopatías/metabolismo
7.
Children (Basel) ; 10(12)2023 Nov 29.
Artículo en Inglés | MEDLINE | ID: mdl-38136072

RESUMEN

The aim of the present study is to describe and measure the cognitive emotion regulation strategies of inpatient adolescents with clinical depression, aged 13-18, and to analyse these coping strategies in relation to different comorbidities of Major Depressive Disorder (MDD). METHODS: There were 112 adolescents with MDD who were admitted to hospital and 78 healthy adolescents included in the study. The Cognitive Emotion Regulation Questionnaire (CERQ) was used to assess nine specific cognitive coping strategies. A cognitive coping style model for depression in adolescents was described by analysing the differences between the two groups. The CERQ scores in MDD participants, grouped by comorbidity, were also assessed. RESULTS: Adolescents with MDD had significantly higher scores for Self-Blame and Catastrophising strategies, and significantly lower scores for Positive Refocusing, Refocusing on Planning, and Positive Reappraisal. Adolescents with MDD and Borderline Personality Disorder (BPD) traits had significantly higher scores for Rumination, Catastrophising, and Blaming Others than adolescents with MDD and anxiety or with no comorbidity. CONCLUSIONS: Clinical depression in adolescents is associated with a cognitive profile that consists of an increased use of maladaptive coping styles and low employment of adaptive strategies. Early identification can contribute to the development of specific, individualised prevention and intervention programmes, while further longitudinal studies are necessary to adequately measure the outcome of these interventions.

8.
Transl Psychiatry ; 13(1): 295, 2023 09 14.
Artículo en Inglés | MEDLINE | ID: mdl-37709755

RESUMEN

Autism spectrum disorder (ASD) is a highly heritable condition with a large variation in cognitive function. Here we investigated the shared genetic architecture between cognitive traits (intelligence (INT) and educational attainment (EDU)), and risk loci jointly associated with ASD and the cognitive traits. We analyzed data from genome-wide association studies (GWAS) of INT (n = 269,867), EDU (n = 766,345) and ASD (cases n = 18,381, controls n = 27,969). We used the bivariate causal mixture model (MiXeR) to estimate the total number of shared genetic variants, local analysis of co-variant annotation (LAVA) to estimate local genetic correlations, conditional false discovery rate (cond/conjFDR) to identify specific overlapping loci. The MiXeR analyses showed that 12.7k genetic variants are associated with ASD, of which 12.0k variants are shared with EDU, and 11.1k are shared with INT with both positive and negative relationships within overlapping variants. The majority (59-68%) of estimated shared loci have concordant effect directions, with a positive, albeit modest, genetic correlation between ASD and EDU (rg = 0.21, p = 2e-13) and INT (rg = 0.22, p = 4e-12). We discovered 43 loci jointly associated with ASD and cognitive traits (conjFDR<0.05), of which 27 were novel for ASD. Functional analysis revealed significant differential expression of candidate genes in the cerebellum and frontal cortex. To conclude, we quantified the genetic architecture shared between ASD and cognitive traits, demonstrated mixed effect directions, and identified the associated genetic loci and molecular pathways. The findings suggest that common genetic risk factors for ASD can underlie both better and worse cognitive functioning across the ASD spectrum, with different underlying biology.


Asunto(s)
Éxito Académico , Trastorno del Espectro Autista , Humanos , Trastorno del Espectro Autista/genética , Estudio de Asociación del Genoma Completo , Cerebelo , Cognición
9.
Psychiatry Res ; 197(3): 356-7, 2012 May 30.
Artículo en Inglés | MEDLINE | ID: mdl-22365273

RESUMEN

22q11.2 deletion syndrome, the most common microdeletion syndrome, exhibits a broad range of phenotypes, implying a cumbersome diagnosis due to atypical or paucisymptomatic presentations. We present two atypical cases of 22q11.2 deletion syndrome and suggest a preferential occurrence of the breakpoints in regions poor in repetitive elements of SINE/Alu family.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 22/genética , Hibridación Genómica Comparativa/métodos , Síndrome de DiGeorge/genética , Genoma Humano/genética , Adolescente , Adulto , Variaciones en el Número de Copia de ADN/genética , Síndrome de DiGeorge/diagnóstico , Femenino , Humanos , Masculino , Fenotipo , Secuencias Repetitivas de Ácidos Nucleicos/genética
10.
Front Psychiatry ; 13: 1006612, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36339838

RESUMEN

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by communication and social interaction deficits, and by restricted interests and stereotyped, repetitive behavior patterns. ASD has a strong genetic component and a complex architecture characterized by the interplay of rare and common genetic variants. Recently, increasing evidence suggest a significant contribution of immune system dysregulation in ASD. The present paper reviews the latest updates regarding the altered immune landscape of this complex disorder highlighting areas with potential for biomarkers discovery as well as personalization of therapeutic approaches. Cross-talk between the central nervous system and immune system has long been envisaged and recent evidence brings insights into the pathways connecting the brain to the immune system. Disturbance of cytokine levels plays an important role in the establishment of a neuroinflammatory milieu in ASD. Several other immune molecules involved in antigen presentation and inflammatory cellular phenotypes are also at play in ASD. Maternal immune activation, the presence of brain-reactive antibodies and autoimmunity are other potential prenatal and postnatal contributors to ASD pathophysiology. The molecular players involved in oxidative-stress response and mitochondrial system function, are discussed as contributors to the pro-inflammatory pattern. The gastrointestinal inflammation pathways proposed to play a role in ASD are also discussed. Moreover, the body of evidence regarding some of the genetic factors linked to the immune system dysregulation is reviewed and discussed. Last, but not least, the epigenetic traits and their interactions with the immune system are reviewed as an expanding field in ASD research. Understanding the immune-mediated pathways that influence brain development and function, metabolism, and intestinal homeostasis, may lead to the identification of robust diagnostic or predictive biomarkers for ASD individuals. Thus, novel therapeutic approaches could be developed, ultimately aiming to improve their quality of life.

11.
Children (Basel) ; 9(11)2022 Oct 27.
Artículo en Inglés | MEDLINE | ID: mdl-36360365

RESUMEN

This study aimed to explore the possible moderating role of emotional regulation in the relationship between problem-solving ability, visuomotor precision and visuospatial integration on the one hand and school results on the other in pupils with ADHD. A total of 241 pupils with ADHD (study group) and 207 children without ADHD (control group) were included in our research. Specific tests for the evaluation of the problem-solving ability, visuomotor precision, visuospatial integration, and emotional regulation were applied. The results showed that emotional regulation is a significant moderator of the relationship between school results and problem-solving ability, visuomotor precision, visuospatial integration, and working memory. There are statistically significant differences depending on emotional regulation, visuomotor precision, visuospatial integration, problem-solving ability and working memory in terms of school results of students with ADHD compared to children without this diagnosis. These results can be used in the development of intervention programs.

12.
Ann Ist Super Sanita ; 58(3): 183-191, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36128967

RESUMEN

OBJECTIVE: To identify developmental symptoms reported at firsts doctor visits by parents of children later diagnosed with Autism Spectrum Disorder (ASD). DESIGN: Cohort study. SETTING: The study was conducted in the Department of Psychiatry Research of "Prof. Dr. Alexandru Obregia" Clinical Psychiatry Hospital from Bucharest between September 2019 and May 2021. PATIENTS: 105 cases: 82 boys and 23 girls, 100 children with autism, and 5 patients with Asperger's syndrome. INTERVENTION: ASD was diagnosed according to the DSM-5 criteria, ADOS-1 (Autism Diagnostic Observation Schedule, 1st Edition) and/or ADI-R (Autism Diagnostic Interview-Revised) tests scores; features reported by the parents for which they presented to the doctor for a diagnosis were taken into consideration. MAIN OUTCOME MEASURES: The age at first presentation to the doctor; the most common early signs reported by the parents of children with ASD. RESULTS: The age at first presentation to the doctor in our group was between 9 months and 14 years. The most common early signs reported by parents were: delayed language development, deficits in understanding verbal instructions/indications, and hyperactivity and aggressivity. In the case of patients with Asperger's syndrome, the reported features were hyperactivity and aggressivity, learning difficulties, and social interaction problems. Regression and delay in language development occurred more often in boys than in girls. CONCLUSIONS: Parents, as well as family doctors or paediatricians, should pay great attention to the children's behaviour, alongside their cognitive and language development. Early detection is essential for early intervention and our results can be used to develop training programs for parents and paediatricians for early recognition of ASD.


Asunto(s)
Trastorno del Espectro Autista , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/psicología , Niño , Estudios de Cohortes , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Femenino , Humanos , Lactante , Masculino , Padres/psicología
13.
Exp Ther Med ; 23(1): 101, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34976143

RESUMEN

Brain heterotopia is a group of rare malformations with a heterogeneous phenotype, ranging from asymptomatic to a severe clinical picture (drug-resistant epilepsy, severe developmental delay). The etiology is multifactorial, including both genetic and environmental factors. In the present study, a cohort of 15 pediatric patients with brain heterotopia were investigated by clinical examination, electroencephalographic studies, brain imaging, and genomic tests. Most of the patients had epileptic seizures, often difficult to control with one antiepileptic drug; another frequent characteristic in the cohort was developmental delay or intellectual disability, in some cases associated with behavioral problems. The genomic studies revealed an interstitial 22q11.2 microduplication, an anomaly not reported previously in heterotopia patients. Comparing the cohort of the present study with that of a previous series of heterotopia patients, both adult and pediatric, similar aspects, such as the high frequency of drug-resistant epilepsy were observed as well as some differences, such as no systemic malformations and no cases with fatal evolution. The current findings add new data to existing knowledge on a rare heterogeneous disorder. The detailed clinical description, including the epilepsy phenotypes, and genomic profiles bring new insights into a group of disorders, yet to be fully understood.

14.
Medicine (Baltimore) ; 101(34): e30288, 2022 Aug 26.
Artículo en Inglés | MEDLINE | ID: mdl-36042658

RESUMEN

Studies on early onset schizophrenia are limited because of their low prevalence but the reported results stated that early onset is associated with a poorer outcome. The present research analyzed the stability rate of the psychotic-related disorders from childhood to adult life. The study was based on an observational, retrospective, descriptive analysis study. The subjects were selected from patients admitted to the pediatric psychiatry ward of "Alexandru Obregia" Psychiatry Hospital between 2009 and 2018 for a psychosis-related disorder, who were 18 years or older at the moment of data collection and who also had admissions into the adult's psychiatry wards of the hospital. Of the 115 subjects, 93, representing 80.87% of the total, maintained a diagnosis of psychotic spectrum disorder into adulthood. The diagnosis was maintained in 82.4% of cases with onset before 13 years old and 80.6% of cases with onset after the age of 13 years of age. Of the 42 subjects who presented affective symptoms during childhood, 71.43% also presented affective symptoms into adulthood. These findings indicate an important stability rate of psychosis from childhood and adulthood and come in accordance with the theory of overlap between psychotic and affective disorders. The results underline the importance of an accurate diagnosis of early and very early onset schizophrenia (VEOS), the need for early and multimodal intervention, but also the need for long-term management of these patients and continuing research regarding psychotic-related disorders in children and adolescents.


Asunto(s)
Trastornos Psicóticos , Esquizofrenia , Adolescente , Adulto , Niño , Humanos , Trastornos Psicóticos/diagnóstico , Trastornos Psicóticos/epidemiología , Trastornos Psicóticos/terapia , Estudios Retrospectivos , Rumanía/epidemiología , Esquizofrenia/diagnóstico , Esquizofrenia/epidemiología , Esquizofrenia/terapia
15.
Front Psychiatry ; 13: 919234, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35757227

RESUMEN

There is very little knowledge regarding autistic adult services, practices, and delivery. The study objective was to improve understanding of current services and practices for autistic adults and opportunities for improvement as part of the Autism Spectrum Disorder in the European Union (ASDEU) project. Separate survey versions were created for autistic adults, carers of autistic adults, and professionals in adult services. 2,009 persons responded to the survey and 1,085 (54%) of them completed at least one of the services sections: 469 autistic adults (65% female; 55% <35 years old), 441 carers of autistic adults (27% female; 6% <35 years old), 175 professionals in adult services (76% female; 67% in non-medical services). Top choices by autistic adults, carers or professionals for services best suiting their current needs were: residential services: "help in own home" (adults, carers of high independent adults, professionals), "fulltime residential facility" (carers of low independent adults); employment services: "job mentors" (adults, carers of high independent adults, professionals), "Sheltered employment" (carers of low independent adults); education services: "support in regular education setting" (all groups); financial services: financial support in lieu of employment ("Supplementary income for persons unable to have full employment" for adults, "full pension" for carers of low independent adults) or to supplement employment earnings for carers of high independent adults and professionals; social services: "behavior training" (adults) and "life skills training" (carers and professionals). Waiting times for specific services were generally < 1 month or 1-3 months, except for residential services which could be up to 6 months; most professionals were uninformed of waiting times (>50% responded "don't know"). Five of seven residential services features recommended for autistic adults were experienced by <50% of adults. The knowledge of good local services models that work well for autistic adults was generally low across all services areas. The variation in services experiences and perceptions reported by autistic adults, carers, or professionals underscore the need to query all groups for a complete picture of community services availability and needs. The results showed areas for potential improvement in autistic adult services delivery in the EU to achieve recommended standards.

16.
J Autism Dev Disord ; 52(4): 1623-1639, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33966137

RESUMEN

The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated local services' use experiences of autistic adults, carers and professionals with interventions for autistic adults. The majority of the 697 participants experienced recommended considerations prior to deciding on intervention and during the intervention plan and implementation. Psychosocial interventions were the most commonly experienced interventions, while pharmacological interventions NOT recommended for core autistic symptoms were reported by fairly large proportions of participants. Family interventions were experienced slightly more commonly by carers than adults or professionals. Less than the 26% of autistic adult responders who had experienced challenging behaviors reported receiving an intervention to change them. These results provide insights for improving gaps in service provision of interventions among autistic adults.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Adulto , Trastorno del Espectro Autista/psicología , Trastorno del Espectro Autista/terapia , Trastorno Autístico/psicología , Cuidadores , Unión Europea , Humanos , Encuestas y Cuestionarios
17.
Autism ; 26(8): 2136-2150, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35261293

RESUMEN

LAY ABSTRACT: Professional guidance and support in response to first concerns appears to be an important predictor of the level of satisfaction with the detection process of autism in young children. In this study, we analyzed the views of 1342 family members, including 1278 parents, who completed an online survey form collecting information about their experience and satisfaction with the early detection of autism in their child. Specifically, we were interested in how specific experiences with the detection process relate to the satisfaction with it and whether we could identify important predictors of satisfaction. The detection process is an emotionally charged period for parents, often described as painful, chaotic, and lengthy. A better understanding of their experiences is important to take appropriate action to improve the detection process. In our sample, the level of satisfaction with the detection process varied greatly from one respondent to another. Among the different experiences we considered, whether or not respondents received professional guidance and support in response to first concerns explained most of this variation. We also found that difficulty finding information about detection services, lack of professional guidance and support in response to first concerns, having to find a diagnostic service on one's own, and longer delays between confirmation of concerns and first appointment with a specialist were experiences associated with a greater likelihood of being unsatisfied. The findings of this study highlight the importance of the parent-professional relationship in the detection process and have important practical implications for health administrations to improve the detection process.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Niño , Humanos , Preescolar , Trastorno Autístico/diagnóstico , Trastorno Autístico/psicología , Satisfacción Personal , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/psicología , Padres/psicología , Familia
18.
Exp Ther Med ; 22(1): 765, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34055064

RESUMEN

Schizophrenia, one of the most common psychiatric disorders, with a worldwide annual incidence rate of approximately 0.3-0.7%, known to affect the population below 25 years of age, is persistent throughout lifetime and includes people from all layers of society. With recent technological progress that allows better imaging techniques, such as the ones provided by computed tomography and particularly magnetic resonance imaging (MRI), research on schizophrenia imaging has grown considerably. The purpose of this review is to establish the importance of using imaging techniques in the early detection of brain abnormalities in patients diagnosed with schizophrenia. We reviewed all articles which reported on MRI imaging in schizophrenia. In order to do this, we used the PubMed database, using as search words 'MRI' and 'schizophrenia'. MRI studies of first episode patients and chronic patients, suggest reduction of the whole brain volume. Enlargement of lateral ventricles was described as positive in 15 studies out of 19 and was similar to findings in chronic patients. Moreover, for the first episode patients, all data collected point to important changes in medial temporal lobe structures, diminished hippocampal volume, the whole frontal lobe, asymmetry in prefrontal cortex, diminished volume in cingulate, corpus callosum, and cavum septum pellucidum reported abnormalities. MRI is recommended as an important tool in the follow-up process of patients with schizophrenia. Yet, it is still under debate whether the abnormalities described in this condition are able to be used as diagnostic biomarkers.

19.
Exp Ther Med ; 22(3): 1010, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34345292

RESUMEN

Life expectancy has increased worldwide and, along with it, a greater prevalence of age-dependent disorders, chronic illnesses and comorbidities can be observed. In 2019, in both Europe and the Americas, dementias ranked 3rd among the top 10 causes of death. Parkinson's disease (PD) is the second most frequent type of neurodegenerative disease. In the last decades, globally, the number of people suffering from PD has more than doubled to over 6 million. Of all the neurological disorders, PD increased with the fastest rate. This troubling trend highlights the stringent need for accurate diagnostic biomarkers, especially in the early stages of the disease and to evaluate treatment response. To gain a broad and complex understanding of the recent advances in the '-omics' research fields, electronic databases such as PubMed, Google Academic, and Science Direct were searched for publications regarding metabolomic studies on PD to identify specific biomarkers for PD, and especially PD with associated psychiatric symptomatology. Discoveries in the fields of metagenomics, transcriptomics and proteomics, may lead to an improved comprehension of the metabolic pathways involved in disease etiology and progression and contribute to the discovery of novel therapeutic targets for effective treatment options.

20.
Exp Ther Med ; 22(4): 1098, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34504552

RESUMEN

Schizophrenia is a severe mental illness with a significant impact on the life of both the patient and the patient's family. Magnetic resonance imaging has proven a useful tool for studying structural changes of the brain in schizophrenia. However, interpreting the published literature presents several challenges. Despite thorough research in recent years, which has included anatomopathological, imaging, electrophysiological, and genetic studies, the intimate pathophysiological mechanisms of this disease are not yet fully elucidated. The present study included patients with schizophrenia diagnosed in the psychiatric clinics from the 'Prof. Dr. Alexandru Obregia' Clinical Psychiatry Hospital between September 2019 and December 2020. Three Tesla magnetic resonance neuroimaging studies were performed. In a significant number of cases, the neuroimaging studies showed association of cerebral modifications such as enlargement of the Virchow spaces, lesions of the white matter with demyelinating appearance, and inflammatory sinus reactions. Cortical atrophy and hemosiderotic spots were present in a statistically significant proportion in the patient group with an age range of 29-61 years. MRI is indicated as a useful technique in the follow-up process of schizophrenia patients. However, whether the anomalies revealed in this disorder can be utilised as diagnostic biomarkers is still being debated.

SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA