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BACKGROUND: Recent research still focuses on the psychological impact on siblings and the problematic relationships in families with children with chronic illnesses. Our study evaluates the dynamics in sibling relationships in families with a child diagnosed with a chronic disease. METHODS: We comparatively evaluated the degree of empathy, involvement, friendship, and rivalry in sibling relationships in two groups of families who have a child with a chronic pediatric disorder versus a chronic mental disorder. RESULTS: The levels of involvement/friendship, empathy/care/concern, and education/learning were significantly higher in the pediatric group. Where there were siblings under the age of 10, rivalry scores tended to be higher in both groups. CONCLUSIONS: Coping strategies, emphatic interactions, and implications in common activities are difficult to identify in the relationship between siblings when one of them has a chronic mental disorder. All of these negative aspects entail poor quality sibling relationships and draw alarm signals regarding the need for monitoring and intervention familial programs.
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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.
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Chromosome 15q13.3 microduplications are associated with a wide spectrum of clinical presentations ranging from normal to different neuropsychiatric conditions, such as developmental delay (DD), intellectual disability (ID), epilepsy, hypotonia, autism spectrum disorders (ASD), attention-deficit hyperactivity disorder, and schizophrenia. The smallest region of overlap for 15q13.3 duplications encompasses the Cholinergic Receptor Nicotinic Alpha 7 Subunit (CHRNA7) gene, a strong candidate for the behavioral abnormalities. We report on a series of five patients with 15q13.3 duplications detected by chromosomal microarray. The size of the duplications ranged from 378 to 537 kb, and involved the CHRNA7 gene in all patients. The most common clinical features, present in all patients, were speech delay, autistic behavior, and muscle hypotonia; DD/ID was present in three patients. One patient presented epileptic seizures; EEG anomalies were observed in three patients. No consistent dysmorphic features were noted. Neuroimaging studies revealed anomalies in two patients: Dandy-Walker malformation and a right temporal cyst. 15q13.3 duplications are associated with various neuropsychiatric features, including speech delay, hypotonia, ASD, and ID, also present in our patient group. Our study brings detailed clinical and molecular data from five ASD patients with 15q13.3 microduplications involving the CHRNA7 gene, contributing to the existing knowledge about the association of 15q13.3 duplications with neuropsychiatric phenotypes.
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Duplicación Cromosómica , Cromosomas Humanos Par 15 , Fenotipo , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/genética , Trastorno del Espectro Autista/genética , Niño , Preescolar , Discapacidades del Desarrollo/genética , Femenino , Humanos , Discapacidad Intelectual/genética , Masculino , Análisis por Micromatrices , Hipotonía Muscular/genética , Convulsiones/genética , Receptor Nicotínico de Acetilcolina alfa 7RESUMEN
Background . Attention Deficit Hyperactivity Disorder (ADHD) has a high degree of heritability and recently has become a challenge not only for clinicians evaluating children and adolescents but also for adult psychiatrists. The latest studies and diagnostic manuals show that the ADHD symptoms are not "overgrown" in adulthood, the way they are expressed merely changes. METHODS: The present study investigates the presence of ADHD symptoms in a group of 104 adult patients admitted to psychiatric services, with chronic substance abuse. The subjects selected for the study were evaluated using the DIVA 2.0 instrument, a scale designed to diagnose ADHD in adulthood. RESULTS: The study results showed that 46% of the drug users, included in the study, have specific symptoms that can be diagnosed as ADHD in adults. Of the 54 subjects who met ADHD criteria in childhood, only 6 did not meet these criteria in adult life, resulting in 89% of ADHD patients maintaining symptoms in adulthood, causing dysfunction in certain life areas. CONCLUSIONS: The presence of ADHD diagnosis in the selected group, has been shown to increase the vulnerability of up to twice the chronic consumption of psychostimulants, an observation of great therapeutic and prophylactic importance for clinical practice. The research also confirms the fact revealed in the latest data from the international literature regarding the consumption of psychoactive substances from young ages, with multiple comorbidities and recurrent behavioral disorders secondary to drug use and major difficulties in following the recommendations of treatment and to get the remission that put their mark on the failure of education and personal development.
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Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastornos Relacionados con Sustancias/complicaciones , Adolescente , Adulto , Factores de Edad , Femenino , Humanos , Masculino , Estudios Retrospectivos , Adulto JovenRESUMEN
Schizophrenia is a neurodevelopmental disorder, characterized by impairment in reasoning, affectivity and social relationships. Although the diagnosis of schizophrenia in children and adolescents has been challenged for many years, at present childhood-onset schizophrenia is considered and accepted as a clinical and biological continuum with the adult-onset disorder. The present study aimed to evaluate the influence of biological (psychiatric family history, perinatal factors), and socio-demographic factors (area of residence, gender) on the age at onset and severity of symptomatology in children and adolescent with schizophrenia. The data were collected from 2016 to 2019 and included 148 children and adolescents with schizophrenia. Data were analysed with statistical software (IBM SPSS 22, JASP and JAMOVI, Linear Regression Model, χ² tests, t-test, U-test). A positive familial history for psychiatric diseases was an important risk factor both for an early onset and for the severity of symptoms. Urbanicity was another studied risk factor, 61% of patients being from urban areas; no statistically significant correlations between urbanicity and age at onset and severity of symptoms were identified. There was no statistically significant gender difference in terms of age at onset and severity of symptoms. Moreover, no statistically significant correlations were found between perinatal factors and age at onset and severity of symptoms. Positive psychiatric family history showed a statistically significant influence on age at onset and symptoms severity in children and adolescent schizophrenia; no statistical significant impact on the aforementioned schizophrenia aspects was observed for urbanicity, gender or perinatal factors.