Search results for "Spectrum disorder"
showing 10 items of 272 documents
ESTRATEGIAS Y ESTILOS DE AFRONTAMIENTO PARENTAL EN FAMILIAS CON NIÑOS CON TRASTORNO DE ESPECTRO AUTISTA (TEA) CON O SIN TRASTORNO POR DÉFICIT DE ATEN…
2015
La crianza de un hijo con Trastorno del Espectro Autista (TEA) ocasiona un fuerte impacto sobre la dinámica familiar. Cuando este trastorno se presenta con otro comórbido, como el Trastorno por Déficit de Atención con Hiperactividad (TDAH), las repercusiones sobre el bienestar psicológico de los padres pueden verse considerablemente aumentadas. Conocer qué estilos y estrategias de afrontamiento se emplean con mayor frecuencia podría contribuir a diseñar intervenciones con las familias, que pudieran repercutir positivamente en la manifestación de la sintomatología autista. El objetivo de este estudio consiste en profundizar en los estilos y estrategias de afrontamiento más frecuentes de esta…
Emotional–Behavioral Disorders in Healthy Siblings of Children with Neurodevelopmental Disorders
2020
Background and Objectives: Siblings of disabled children are more at risk of developing mental illnesses. More than 50 international studies show that about 8% of children and adolescents suffer from a mental disorder, which is almost always a source of difficulties both at the interpersonal level (in the family and with peers) and at school. Healthy siblings of children with disabilities are one of the groups most at risk for consequences in psychological health and well-being. As some authors suggest, siblings build their idea of &ldquo
Endocrine Disruptors and Autism Spectrum Disorder in Pregnancy: A Review and Evaluation of the Quality of the Epidemiological Evidence
2018
Exposure to environmental contaminants during pregnancy has been linked to adverse health outcomes later in life. Notable among these pollutants are the endocrine disruptors chemicals (EDCs), which are ubiquitously present in the environment and they have been measured and quantified in the fetus. In this systematic review, our objective was to summarize the epidemiological research on the potential association between prenatal exposure to EDCs and Autism Spectrum Disorder (ASD) published from 2005 to 2016. The Navigation Guide Systematic Review Methodology was applied. A total of 17 studies met the inclusion criteria for this review, including: five cohorts and 12 case-control. According t…
Examining the independent and joint effects of genomic and exposomic liabilities for schizophrenia across the psychosis spectrum
2020
The EUGEI project was supported by the European Community’s Seventh Framework Program under grant agreement no. HEALTH-F2-2009-241909 (Project EU-GEI). Dr O’Donovan is supported by MRC programme grant (G08005009) and an MRC Centre grant (MR/ L010305/1). Dr Rutten was funded by a VIDI award number 91718336 from the Netherlands Scientific Organisation. Drs Guloksuz and van Os are supported by the Ophelia research project, ZonMw grant number: 636340001. Dr Arango was supported by the Spanish Ministry of Science and Innovation; Instituto de Salud Carlos III (SAM16PE07CP1, PI16/02012, PI19/024); CIBERSAM; Madrid Regional Government (B2017/BMD-3740, AGES-CM-2); Fundación Familia Alonso and Fundac…
De novo GRIN2A variants associated with epilepsy and autism and literature review
2021
N-methyl-D-aspartate receptors (NMDAR) are di- or tri-heterotetrameric ligand-gated ion channels composed of two obligate glycine-binding GluN1 subunits and two glutamate-binding GluN2 or GluN3 subunits, encoded by GRIN1, GRIN2A–D, and GRIN3A–B receptor genes respectively. Each NMDA receptor subtype has different temporal and spatial expression patterns in the brain and varies in the cell types and subcellular localization resulting in different functions. They play a crucial role in mediating the excitatory neurotransmission, but are also involved in neuronal development and synaptic plasticity, essential for learning, memory, and high cognitive functions. Among genes coding NMDAR subunits…
La ratio interdigital D2:D4 y su relación con otros indicadores de androgenización en progenitores de personas con trastornos del espectro autista
2013
The 2D:4D ratio is the quotient between the index and ring finger lengths and is a non-direct indicator of androgenisation. If prenatal testosterone levels in the amniotic fluid are high then the probability increases of developing lower ratio values. It has been suggested that people with autism spectrum disorders (ASD) and their parents may have highly androgenised brains, and for this reason the 2D:4D ratio is used as a marker of such idiosyncrasies. This study aims to analyse if parents of people with ASD differ from the general population in several parameters of androgenisation related to the 2D:4D ratio. The sample was composed of 43 parents of offspring with ASD and 42 controls who …
The role of linguistic and cognitive factors in emotion recognition difficulties in children with ASD, ADHD or DLD.
2018
Background Many children with neurodevelopmental disorders such as autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD) or developmental language disorder (DLD) have difficulty recognizing and understanding emotions. However, the reasons for these difficulties are currently not well understood. Aims To compare the emotion recognition skills of children with neurodevelopmental disorders as well as those children's skills with the skills of their typically developing (TD) age peers. Also, to identify the role of underlying factors in predicting emotion recognition skills. Methods & procedures The 6-10-year-old children (n = 50) who participated in the study had eith…
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
2017
Abstract Background Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal duplication has been associated with macrocephaly or relative macrocephaly, frontal bossing, hypertelorism, developmental delay, intellectual disability and autism spectrum disorder. Methods Our study describes seven patients, who were referred to us for developmental delay/intellectual disability, dysmorphic features and, in some cases, congenital anomalies, in whom we identified 1q21.1 CNVs by arra…
Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication
2019
The Xp22.31 segment of the short arm of the human X chromosome is a region of high instability with frequent rearrangement. The duplication of this region has been found in healthy people as well as in individuals with varying degrees of neurological impairment. The incidence has been reported in a range of 0.4-0.44% of the patients with neurological impairment. Moreover, there is evidence that Xp22.31 duplication may cause a common phenotype including developmental delay, intellectual disability, feeding difficulty, autistic spectrum disorders, hypotonia, seizures, and talipes. We report on a patient with microcephaly and trigonocephaly, moderate intellectual disability, speech and languag…
Stippled epiphyses in fetal alcohol syndrome.
1990
We report on punctate epiphyseal calcifications (stippled epiphyses) in the fetal alcohol syndrome and present the differential diagnosis of chondrodysplasia punctata. A literature survey shows that epiphyseal calcifications accompanying alcoholic embryopathy are regularly located in the lower limbs and rarely found in the upper extremities.