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1.
J Huntingtons Dis ; 13(1): 15-31, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38517797

RESUMEN

Background: People with Huntington's disease (HD) exhibit neurocognitive alterations throughout the disease, including deficits in social cognitive processes such as Theory of Mind (ToM). Objective: The aim is to identify methodologies and ToM instruments employed in HD, alongside relevant findings, within the scientific literature of the past two decades. Methods: We conducted a comprehensive search for relevant papers in the SCOPUS, PubMed, APA-PsyArticles, Web of Science, Redalyc, and SciELO databases. In the selection process, we specifically focused on studies that included individuals with a confirmed genetic status of HD and investigated ToM functioning in patients with and without motor symptoms. The systematic review followed the PRISMA protocol. Results: A total of 27 papers were selected for this systematic review, covering the period from 2003 to 2023. The findings consistently indicate that ToM is globally affected in patients with manifest motor symptoms. In individuals without motor symptoms, impairments are focused on the affective dimensions of ToM. Conclusions: Based on our analysis, affective ToM could be considered a potential biomarker for HD. Therefore, it is recommended that ToM assessment be included as part of neuropsychological evaluation protocols in clinical settings. Suchinclusion could aid in the identification of early stages of the disease and provide new opportunities for treatment, particularly with emerging drugs like antisense oligomers. The Prospero registration number for this review is CRD42020209769.


Asunto(s)
Enfermedad de Huntington , Teoría de la Mente , Humanos , Enfermedad de Huntington/genética , Enfermedad de Huntington/psicología , Pruebas Neuropsicológicas , Cognición
2.
Int J Mol Sci ; 24(22)2023 Nov 10.
Artículo en Inglés | MEDLINE | ID: mdl-38003344

RESUMEN

Huntington's disease (HD) is a genetic disorder caused by a CAG trinucleotide expansion in the huntingtin (HTT) gene. Juan de Acosta, Atlántico, a city located on the Caribbean coast of Colombia, is home to the world's second-largest HD pedigree. Here, we include 291 descendants of this pedigree with at least one family member with HD. Blood samples were collected, and genomic DNA was extracted. We quantified the HTT CAG expansion using an amplicon sequencing protocol. The genetic heterogeneity was measured as the ratio of the mosaicism allele's read peak and the slippage ratio of the allele's read peak from our sequence data. The statistical and bioinformatic analyses were performed with a significance threshold of p < 0.05. We found that the average HTT CAG repeat length in all participants was 21.91 (SD = 8.92). Of the 291 participants, 33 (11.3%, 18 females) had a positive molecular diagnosis for HD. Most affected individuals were adults, and the most common primary and secondary alleles were 17/7 (CAG/CCG) and 17/10 (CAG/CCG), respectively. The mosaicism increased with age in the participants with HD, while the slippage analyses revealed differences by the HD allele type only for the secondary allele. The slippage tended to increase with the HTT CAG repeat length in the participants with HD, but the increase was not statistically significant. This study analyzed the genetic and molecular features of 291 participants, including 33 with HD. We found that the mosaicism increased with age in the participants with HD, particularly for the secondary allele. The most common haplotype was 17/7_17/10. The slippage for the secondary allele varied by the HD allele type, but there was no significant difference in the slippage by sex. Our findings offer valuable insights into HD and could have implications for future research and clinical management.


Asunto(s)
Enfermedad de Huntington , Adulto , Femenino , Humanos , Enfermedad de Huntington/genética , Enfermedad de Huntington/diagnóstico , Colombia , Alelos , ADN , Linaje , Proteína Huntingtina/genética , Expansión de Repetición de Trinucleótido
3.
Life (Basel) ; 12(11)2022 Oct 27.
Artículo en Inglés | MEDLINE | ID: mdl-36362875

RESUMEN

Diagnosis of neurodegenerative disease (NDD) is complex, therefore simpler, less invasive, more accurate biomarkers are needed. small non-coding RNA (sncRNA) dysregulates in NDDs and sncRNA signatures have been explored for the diagnosis of NDDs, however, the performance of previous biomarkers is still better. Astrocyte dysfunction promotes neurodegeneration and thus derived scnRNA signatures could provide a more precise way to identify of changes related to NDD course and pathogenesis, and it could be useful for the dissection of mechanistic insights operating in NDD. Often sncRNA are transported outside the cell by the action of secreted particles such as extracellular vesicles (EV), which protect sncRNA from degradation. Furthermore, EV associated sncRNA can cross the BBB to be found in easier to obtain peripheral samples, EVs also inherit cell-specific surface markers that can be used for the identification of Astrocyte Derived Extracellular Vesicles (ADEVs) in a peripheral sample. By the study of the sncRNA transported in ADEVs it is possible to identify astrocyte specific sncRNA signatures that could show astrocyte dysfunction in a more simpler manner than previous methods. However, sncRNA signatures in ADEV are not a copy of intracellular transcriptome and methodological aspects such as the yield of sncRNA produced in ADEV or the variable amount of ADEV captured after separation protocols must be considered. Here we review the role as signaling molecules of ADEV derived sncRNA dysregulated in conditions associated with risk of neurodegeneration, providing an explanation of why to choose ADEV for the identification of astrocyte-specific transcriptome. Finally, we discuss possible limitations of this approach and the need to improve the detection limits of sncRNA for the use of ADEV derived sncRNA signatures.

4.
Life (Basel) ; 12(9)2022 Sep 16.
Artículo en Inglés | MEDLINE | ID: mdl-36143475

RESUMEN

The importance of miRNAs in cellular processes and their dysregulation has taken significant importance in understanding different pathologies. Due to the constant increase in the prevalence of neurodegenerative diseases (ND) worldwide and their economic impact, mild cognitive impairment (MCI), considered a prodromal phase, is a logical starting point to study this public health problem. Multiple studies have established the importance of miRNAs in MCI, including astrocyte regulation during stressful conditions. Additionally, the protection mechanisms exerted by astrocytes against some damage in the central nervous system (CNS) lead to astrocytic reactivation, in which a differential expression of miRNAs has been shown. Nevertheless, excessive reactivation can cause neurodegeneration, and a clear pattern defining the equilibrium point between a neuroprotective or detrimental astrocytic phenotype is unknown. Therefore, the miRNA expression has gained significant attention to understand the maintenance of brain balance and improve the diagnosis and treatment at earlier stages in the ND. Here, we provide a comprehensive review of the emerging role of miRNAs in cellular processes that contribute to the loss of cognitive function, including lipotoxicity, which can induce chronic inflammation, also considering the fundamental role of astrocytes in brain homeostasis.

5.
J Atten Disord ; 26(4): 587-605, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34009035

RESUMEN

OBJECTIVE: To investigate whether single nucleotide polymorphisms (SNPs) in the ADGRL3, DRD4, and SNAP25 genes are associated with and predict ADHD severity in families from a Caribbean community. METHOD: ADHD severity was derived using latent class cluster analysis of DSM-IV symptomatology. Family-based association tests were conducted to detect associations between SNPs and ADHD severity latent phenotypes. Machine learning algorithms were used to build predictive models of ADHD severity based on demographic and genetic data. RESULTS: Individuals with ADHD exhibited two seemingly independent latent class severity configurations. SNPs harbored in DRD4, SNAP25, and ADGRL3 showed evidence of linkage and association to symptoms severity and a potential pleiotropic effect on distinct domains of ADHD severity. Predictive models discriminate severe from non-severe ADHD in specific symptom domains. CONCLUSION: This study supports the role of DRD4, SNAP25, and ADGRL3 genes in outlining ADHD severity, and a new prediction framework with potential clinical use.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Receptores Acoplados a Proteínas G/genética , Receptores de Péptidos/genética , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/genética , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Humanos , Aprendizaje Automático , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Receptores de Dopamina D4/genética , Proteína 25 Asociada a Sinaptosomas/genética
6.
Brain Sci ; 11(9)2021 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-34573239

RESUMEN

Temporal processing (TP) is associated with functions such as perception, verbal skills, temporal perspective, and future planning, and is intercorrelated with working memory, attention, and inhibitory control, which are highly impaired in individuals with attention deficit hyperactivity disorder (ADHD). Here we evaluate TP measures as potential endophenotypes in Caribbean families ascertained from probands affected by ADHD. A total of 232 individuals were recruited and clinically evaluated using an extensive battery of neuropsychological tasks and reaction time (RT)-based task paradigms. Further, the heritability (genetic variance underpinning phenotype) was estimated as a measure of the genetics apportionment. A predictive framework for ADHD diagnosis was derived using these tasks. We found that individuals with ADHD differed from controls in neuropsychological tasks assessing mental control, visual-verbal memory, verbal fluency, verbal, and semantic fluency. In addition, TP measures such as RT, errors, and variability were also affected in individuals with ADHD. Moreover, we determined that only omission and commission errors had significant heritability. In conclusion, we have disentangled omission and commission errors as possible TP endophenotypes in ADHD, which can be suitable to assess the neurobiological and genetic basis of ADHD. A predictive model using these endophenotypes led to remarkable sensitivity, specificity, precision and classification rate for ADHD diagnosis, and may be a useful tool for patients' diagnosis, follow-up, and longitudinal assessment in the clinical setting.

7.
Brain Sci ; 11(7)2021 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-34206913

RESUMEN

Attention deficit hyperactivity disorder (ADHD) is a highly heritable neurobehavioral disorder that affects children worldwide, with detrimental long-term consequences in affected individuals. ADHD-affected patients display visual-motor and visuospatial abilities and skills that depart from those exhibited by non-affected individuals and struggle with perceptual organization, which might partially explain impulsive responses. Endophenotypes (quantifiable or dimensional constructs that are closely related to the root cause of the disease) might provide a more powerful and objective framework for dissecting the underlying neurobiology of ADHD than that of categories offered by the syndromic classification. In here, we explore the potential presence of the linkage and association of single-nucleotide polymorphisms (SNPs), harbored in genes implicated in the etiology of ADHD (ADGRL3, DRD4, and FGF1), with cognitive endophenotypes related to working memory and perceptual organization in 113 nuclear families. These families were ascertained from a geographical area of the Caribbean coast, in the north of Colombia, where the community is characterized by its ethnic diversity and differential gene pool. We found a significant association and linkage of markers ADGRL3-rs1565902, DRD4-rs916457 and FGF1-rs2282794 to neuropsychological tasks outlining working memory and perceptual organization such as performance in the digits forward and backward, arithmetic, similarities, the completion of figures and the assembly of objects. Our results provide strong support to understand ADHD as a combination of working memory and perceptual organization deficits and highlight the importance of the genetic background shaping the neurobiology, clinical complexity, and physiopathology of ADHD. Further, this study supplements new information regarding an ethnically diverse community with a vast African American contribution, where ADHD studies are scarce.

8.
Dev Neuropsychol ; 45(6): 414-430, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32985248

RESUMEN

Individuals with congenital insensitivity to pain with anhidrosis (CIPA) are reported to have intellectual disability but to our knowledge, no detailed study about neuropsychological functioning of this condition has ever been published. The present study assessed neuropsychological outcomes of two children with CIPA using standardized neuropsychological tests. The neuropsychological assessment revealed difficulties in a wide range of cognitive, executive, and integrative functions, such as a behavioral and adaptive level. Both children with CIPA functioned in the intellectual disability range with symptoms related to an executive dysfunction and negative-oriented personal emotional processing, and limitations in academic and self-care skills.


Asunto(s)
Hipohidrosis/psicología , Pruebas Neuropsicológicas/normas , Adolescente , Femenino , Humanos
9.
Salud UNINORTE ; 36(1): 178-195, ene.-abr. 2020. tab
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1252128

RESUMEN

RESUMEN Introducción: La insensibilidad congénita al dolor con anhidrosis (HSAN IV o CIPA) es una enfermedad rara con sintomatologia multisistémica, que impacta el funcionamiento cognitivo, y afecta negativamente la calidad de vida los pacientes y sus familias. Se estima que la mayoría de los individuos que padecen esta enfermedad mueren antes de los tres años por las complicaciones que esta genera. Objetivo: Realizar una revisión de la sintomatologia clinica de la enfermedad y las alteraciones neurocognitivas reportadas en 145 casos de pacientes con insensibilidad congénita al dolor con anhidrosis reportados en la literatura cientifica entre 2000 y 2017. Desarrollo: La revisión permitió identificar los sintomas clínicos más frecuentes en los pacientes con insensibilidad congénita al dolor con anhidrosis IV: fiebres, anhidrosis, osteomielitis, fracturas, artropatias y necrosis avascular. Conclusiones: La insensibilidad congénita al dolor con anhidrosis como enfermedad multisistémica tiene implicaciones cognitivas en pacientes que la padecen; sin embargo, se desconoce el nivel de impacto de esta enfermedad en el comportamiento y las funciones superiores de los pacientes afectados.


ABSTRACT Introduction: The congenital insensitivity to pain with anhidrosis (HSAN IV) is a rare disease, which results in different with multisystem symptoms, impacting cognitive functions that affect negatively the quality of life not only in patients but also in relatives. It is estimated that most individuals suffering from this disease die before turning three years of age due to the complications that arise from this condition. Objective: Review the clinical symptomatology of this disease and the neurocognitive alterations that occurred in 145 cases of patients with HSAN IV reported in the scientific literature between 2000 and 2017. Findings: Te review allowed to identify the most frequent clinical symptoms in patients with HSAN IV: fever, anhidrosis, osteomyelitis, fractures, arthropathies and avascular necrosis. Conclusions: There is a scientific ignorance of the impact of HSAN IV on the behavior and superior functions in patients affected by this disease.

10.
Pediatr. aten. prim ; 21(83): e101-e108, jul.-sept. 2019. tab, graf
Artículo en Español | IBECS | ID: ibc-188633

RESUMEN

Objetivo: se buscó determinar la prevalencia del trastorno por déficit de atención e hiperactividad (TDAH) en niños de entre 6 a 17 años escolarizados en Barranquilla, para hacer una caracterización epidemiológica del trastorno en la región Caribe colombiana. Materiales y métodos: se tomaron 383 niños de una institución educativa a los que se les aplicaron pruebas de tamizaje (Checklist y BASC). Aquellos sujetos que registraron una puntuación sugestiva de alguna alteración fueron reprogramados para la realización de la evaluación por medio de la entrevista estructurada (MINI). Resultados: de los 383 sujetos evaluados inicialmente, 178 resultaron ser casos de algún tipo de alteración, de estos se confirmó que 59 (15%) tenían diagnóstico de TDAH, con una proporción de 38 varones y 21 mujeres, lo que arroja una relación 2:1, la distribución por subtipos se dio en 7,3% combinado, 5% inatento y 3,1% hiperactivo. En total, el 23% de los sujetos evaluados presentaron algún trastorno neuropsiquiátrico y se encontró una relación estadísticamente significativa entre el subtipo inatento con la agorafobia y los episodios depresivos, entre el subtipo hiperactivo con el trastorno oposicionista desafiante y el trastorno de angustia y entre la depresión y el riesgo de suicidio con el subtipo combinado. Conclusiones: la prevalencia del TDAH en Barranquilla presenta un comportamiento similar a otras regiones del país, tanto en la prevalencia como en la distribución por subtipos, relación por sexo, tipos de comorbilidades. Estos datos no están sujetos a factores psicosociales, lo que confirmaría la teoría de tener una etiología multifactorial


Objective: we aimed to establish the prevalence of attention-deficit hyperactivity disorder (ADHD) in schoolchildren aged 6 to 17 years in Barranquilla, to obtain an epidemiological perspective of this disorder in the Caribbean region of Colombia. Materials and methods: we selected 383 children enrolled in a single school and administered screening tests (symptoms checklist and BASC). In children with scores that suggested the presence of abnormalities, we scheduled another assessment by means of a structured interview (MINI). Results: of the 383 children that underwent the initial assessment, 178 exhibited abnormalities, of which 59 (15%) received a final diagnosis of ADHD (38 male and 21 women, corresponding to a 2:1 ratio). The distribution by subtypes was 7.3% combined, 5% inattentive and 3.1% hyperactive. Overall, 23% of the children in the sample had some form of neuropsychiatric disorder, and we found that the inattentive type was significantly associated with agoraphobia and episodes of depression and the hyperactive type with oppositional defiant disorder and anxiety disorder, while in the combined type, depression was associated with an increased risk of suicide. Conclusions: the prevalence of ADHD in Barranquilla was similar to the prevalence reported in other regions of Colombia, both overall and for each of the subtypes, and in its distribution by sex or comorbidities. These proportions were not associated to psychosocial factors, which supports the hypothesis of a multifactorial aetiology of ADHD


Asunto(s)
Humanos , Masculino , Femenino , Niño , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastornos de la Conducta Infantil/epidemiología , Psicometría/instrumentación , Prevalencia , Comorbilidad , Política Pública/tendencias , Estudios Prospectivos , Factores de Riesgo , Pruebas Neuropsicológicas/estadística & datos numéricos
11.
Cells ; 8(8)2019 08 16.
Artículo en Inglés | MEDLINE | ID: mdl-31426340

RESUMEN

Attention Deficit Hyperactivity Disorder (ADHD) is a highly heritable and prevalent neurodevelopmental disorder that frequently persists into adulthood. Strong evidence from genetic studies indicates that single nucleotide polymorphisms (SNPs) harboured in the ADGRL3 (LPHN3), SNAP25, FGF1, DRD4, and SLC6A2 genes are associated with ADHD. We genotyped 26 SNPs harboured in genes previously reported to be associated with ADHD and evaluated their potential association in 386 individuals belonging to 113 nuclear families from a Caribbean community in Barranquilla, Colombia, using family-based association tests. SNPs rs362990-SNAP25 (T allele; p = 2.46 × 10-4), rs2282794-FGF1 (A allele; p = 1.33 × 10-2), rs2122642-ADGRL3 (C allele, p = 3.5 × 10-2), and ADGRL3 haplotype CCC (markers rs1565902-rs10001410-rs2122642, OR = 1.74, Ppermuted = 0.021) were significantly associated with ADHD. Our results confirm the susceptibility to ADHD conferred by SNAP25, FGF1, and ADGRL3 variants in a community with a significant African American component, and provide evidence supporting the existence of specific patterns of genetic stratification underpinning the susceptibility to ADHD. Knowledge of population genetics is crucial to define risk and predict susceptibility to disease.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/genética , Haplotipos/genética , Polimorfismo de Nucleótido Simple/genética , Adolescente , Adulto , Negro o Afroamericano/genética , Estudios de Casos y Controles , Niño , Colombia , Femenino , Factor 1 de Crecimiento de Fibroblastos/genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Receptores Acoplados a Proteínas G/genética , Receptores de Péptidos/genética , Proteína 25 Asociada a Sinaptosomas/genética
12.
Transl Psychiatry ; 9(1): 42, 2019 01 29.
Artículo en Inglés | MEDLINE | ID: mdl-30696812

RESUMEN

Genetic factors are strongly implicated in the susceptibility to develop externalizing syndromes such as attention-deficit/hyperactivity disorder (ADHD), oppositional defiant disorder, conduct disorder, and substance use disorder (SUD). Variants in the ADGRL3 (LPHN3) gene predispose to ADHD and predict ADHD severity, disruptive behaviors comorbidity, long-term outcome, and response to treatment. In this study, we investigated whether variants within ADGRL3 are associated with SUD, a disorder that is frequently co-morbid with ADHD. Using family-based, case-control, and longitudinal samples from disparate regions of the world (n = 2698), recruited either for clinical, genetic epidemiological or pharmacogenomic studies of ADHD, we assembled recursive-partitioning frameworks (classification tree analyses) with clinical, demographic, and ADGRL3 genetic information to predict SUD susceptibility. Our results indicate that SUD can be efficiently and robustly predicted in ADHD participants. The genetic models used remained highly efficient in predicting SUD in a large sample of individuals with severe SUD from a psychiatric institution that were not ascertained on the basis of ADHD diagnosis, thus identifying ADGRL3 as a risk gene for SUD. Recursive-partitioning analyses revealed that rs4860437 was the predominant predictive variant. This new methodological approach offers novel insights into higher order predictive interactions and offers a unique opportunity for translational application in the clinical assessment of patients at high risk for SUD.


Asunto(s)
Predisposición Genética a la Enfermedad , Receptores Acoplados a Proteínas G/genética , Receptores de Péptidos/genética , Trastornos Relacionados con Sustancias/genética , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Estudios Longitudinales , Masculino , Polimorfismo de Nucleótido Simple , Factores de Riesgo , Trastornos Relacionados con Sustancias/epidemiología , Adulto Joven
13.
AIDS Care ; 30(5): 623-633, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29411628

RESUMEN

Human immunodeficiency virus (HIV-1) infection and acquired immunodeficiency syndrome (AIDS) lead to neurocognitive disorders; however, there is still much knowledge to be gained regarding HIV-associated neurocognitive disorders. The purpose of this study was to assess the cognitive performance, instrumental activities of daily living, depression, and anxiety in patients with asymptomatic HIV-1 infections compared with seronegative participants without neurocognitive impairment. We studied a sample consisted of 60 patients with asymptomatic HIV-1 infections and 60 seronegative participants without neurocognitive impairment from the city of Barranquilla, Colombia, with a mean age of 36.07 years. A protocol of neuropsychological and psychopathological tests was applied to the participants. The group of patients with asymptomatic HIV infections significantly underperformed on tasks that assessed global cognitive screening, attention span, learning, phonemic verbal fluency, auditory-verbal comprehension, information processing speed, cognitive flexibility, and motor skills compared to the group of seronegative participants. No significant differences were found in memory, visual confrontation naming, vocabulary, inhibition, and instrumental activities of daily living. Additionally, the patients with asymptomatic HIV-1 infection had a higher anxiety index than the seronegative participants, but no significant difference was found in depression. A correlation was found between depression and anxiety. In conclusion, the patients with asymptomatic HIV-1 infection had lower cognitive performances than the seronegative participants in the cognitive functions mentioned above and more anxiety but still performed the instrumental activities of daily living.


Asunto(s)
Enfermedades Asintomáticas/psicología , Trastornos del Conocimiento/virología , Infecciones por VIH/psicología , VIH-1 , Procesos Mentales , Actividades Cotidianas , Adulto , Ansiedad/virología , Atención , Cognición , Depresión/virología , Femenino , Infecciones por VIH/virología , Humanos , Aprendizaje , Masculino , Persona de Mediana Edad , Destreza Motora , Pruebas Neuropsicológicas , Tiempo de Reacción
14.
Atten Defic Hyperact Disord ; 9(4): 199-211, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28238028

RESUMEN

Impairment in inhibitory control has been postulated as an underlying hallmark of attention deficit/hyperactivity disorder (ADHD), which can be utilized as a quantitative trait for genetic studies. Here, we evaluate whether inhibitory control, measured by simple automatized prepotent response (PR) inhibition variables, is a robust discriminant function for the diagnosis of ADHD in children and can be used as an endophenotype for future genetic studies. One hundred fifty-two school children (30.9% female, 67.8% with ADHD) were recruited. The ADHD checklist was used as the screening tool, whilst the DSM-IV Mini International Neuropsychiatry Interview, neurologic interview and neurologic examination, and the WISC III FSIQ test were administered as the gold standard procedure to assert ADHD diagnosis. A Go/No-Go task using a naturalistic and automatized visual signal was administered. A linear multifactor model (MANOVA) was fitted to compare groups including ADHD status, age, and gender as multiple independent factors. Linear discriminant analysis and the receiver operating characteristic curve were used to assess the predictive performance of PR inhibition variables for ADHD diagnosis. We found that four variables of prepotent response reaction time- and prepotent response inhibition established statistically significant differences between children with and without ADHD. Furthermore, these variables generated a strong discriminant function with a total classification capability of 73, 84% specificity, 68% sensitivity, and 90% positive predictive value for ADHD diagnosis, which support reaction times as a candidate endophenotype that could potentially be used in future ADHD genetic research.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/psicología , Inhibición Psicológica , Tiempo de Reacción , Región del Caribe , Estudios de Casos y Controles , Niño , Endofenotipos , Femenino , Humanos , Masculino , Desempeño Psicomotor
15.
Acta neurol. colomb ; 32(4): 275-284, oct.-dic. 2016. ilus, tab
Artículo en Español | LILACS | ID: biblio-949589

RESUMEN

Resumen Introducción: el análisis de conglomerados de clases latentes (ACCL) es un procedimiento estadístico para agrupamientos, dependiendo de la respuesta a cada ítem. Se ha usado con el trastorno de atención hiperactividad (TDAH), para derivar tipos sutiles de casos en estudios genéticos. Objetivo: analizar los CCL de 408 miembros de 120 familias con un caso índice de TDAH, en relación con los síntomas registrados en la entrevista psiquiátrica. Pacientes y métodos: a partir de un caso índice (niño escolarizado de Barranquilla con diagnóstico estándar de oro de TDAH) se construyeron familias nucleares, las cuales de evaluaron para el diagnóstico de TDAH y comorbilidades. La muestra fue de 408 miembros de 120 familias, edad 26,6 ± 15,4 años. Con el programa para computador Latent-Gold 4,0 se hizo el ACCL con la respuesta nominal para cada síntoma de TDAH, y la presencia o no de comorbilidades con TOD y TDC. Se usó el sexo y la edad como covariables categóricas. Se hizo un análisis cruzado de cada conglomerado con el diagnóstico estándar de oro. Resultados: el mejor modelo (índices de verosimilitud) fue de 6 CCL (p Bootstrap = 0,08). El conglomerado 1 (32,5 %) son adultos, predominio de sexo femenino, probabilidad < 20 % de síntomas y comorbilidades. El segundo (17,4 %) son adultos y niños de sexo masculino con 40 a 80 % de síntomas de TDAH combinado. El grupo tres (15,7 %) son niños con ~100 % síntomas de TDAH combinado, TOD y TDC. El cuarto conglomerado (14,3 %) son adultos de ambos sexos con 20 a 50 % probabilidades de hiperactividad-impulsividad, TOD (70 %) y TDC (40 %). El grupo 5 (10,6 %) en un 80 % adultos con 30 a 90 % probabilidades de inatención sin comorbilidades. El conglomerado 6 (9,5 %) con altas probabilidades de síntomas de inatención. Conclusiones: se derivaron 6 CCL. Cuatro conglomerados son de afectados, 1 de no afectados y 1 con similar proporción de afectados y no afectados, los cuales podrían ser usados en análisis con marcadores genéticos de susceptibilidad para TDAH.


Summary Introduction: Latent class cluster analysis (LCCA) is a statistical procedure to sort a sample, according to item response of each member of a sample. It has been used with ADHD in order to derive mild cases for genetic studies. Objective: To analyze LCC from 408 members of 120 nuclear families with a ADHD proband, related to registered symptoms obtained with a structured psychiatric interview. Patient and methods: From a proband (school -gold standard- ADHD affected child from Barranquilla) nuclear families were recruited, which were assess for ADHD and comorbidities diagnoses. Sample was 408 members of 120 nuclear families, mean age 26,6 ± 15,4 years old. Using Latent Gold 4,0 software, an ACCL with each ADHD categorical symptoms, and comorbidities with ODD and CD was run. Gender and age were used as categorical active covariables. A cross tabulation analysis between LCC and ADHD gold standard diagnosis was done. Results: The best model (maximum likelihood index) was a 6 LCC (p Bootstrap = 0,08). Cluster 1 (32,5%) were predominantly female adults with low (< 20%) probability of ADHD symptoms. Cluster 2 (17,4%) were adults and children with 40 to 80% probabilities of combined ADHD symptoms. Cluster 3 (15,7%) were children with ~100% of ADHD combined symptoms with ODD and CD comorbidities. Cluster 4 (14,3%) were adults of both genders with 20 to 50% probabilities of hyperactivity - impulsivity and ODD (70%) and CD (40%). Cluster 5 (10,6%) were 80% adults with 30 to 90% probabilities of inattentive symptoms without comorbidities. Cluster 6 (9,5%) had high probabilities of inattentive symptoms. Conclusions: A 6 LCC model was obtained. Four LCC were ADHD affected, one was unaffected and one with similar proportion of affected and unaffected members, which would are able to be used for genetic analyses with ADHD susceptibility gene markers.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Familia , Colombia
16.
rev. psicogente ; 19(35): 161-176, ene.-jun. 2016. ilus
Artículo en Español | LILACS | ID: biblio-963526

RESUMEN

El presente artículo de revisión se centra en determinar cuál es el discurso de las neurociencias para el abordaje de la didáctica de las finanzas, y cuáles son las estrategias y didácticas aplicadas a la enseñabilidad de las finanzas y su correspondencia con la práctica y los modelos pedagógicos. Se identificaron teorías didácticas que fundamentarán las prácticas educativas de los docentes en la enseñabilidad, evaluando, articulando y confrontando los fundamentos pedagógicos que poseen los docentes para el desarrollo humano teniendo en cuenta el contexto. Se resalta la importancia que tiene la incorporación de los conocimientos científicos y tecnológicos en la transformación de las futuras pedagogías y didácticas. Se destaca el aporte de las neurociencias para alcanzar la excelencia en la educación con el trabajo interdisciplinar que haga compatible la educación con el funcionamiento del cerebro, y la investigación en el aula como práctica normal de la actividad docente. Se incorporan nuevas y novedosas estrategias de aprendizaje considerando las orientaciones dadas por la teoría de Ned Herrmann. Se evalúan, ejecutan y planifican propuestas didácticas acordes a los tipos de inteligencia y a los resultados de la investigación en neurociencia que permitieron saber que el cerebro conjuga el pensar, el sentir y el actuar. Se tiene claro que los contextos implican ciertas estrategias didácticas que es necesario contextualizar con el conocimiento, enfatizando sobre la realidad con utilidad social y la contextualización de los saberes. Se aprecia cómo el aprendizaje cambia la estructura física del sistema, organiza y reorganiza el cerebro, dentro de la orientación ética de emancipación humana


This essay focuses on determine what is the discourse of neuroscience to approach the teaching of finance, teaching strategies and teachability applied to finance and correspondence with the practice and teaching models. Learning theory to substantiate the educational practices of teachers in teachability, evaluating, articulating and confronting the educational foundations for teachers who possess human development taking into account the context were identified. The importance of the incorporation of science and technology in the transformation of future pedagogies and teaching expertise is highlighted. The contribution of neuroscience to achieve excellence in education with interdisciplinary work to make education support the functioning of brain research in the classroom as normal practice of teaching. New and novel learning strategies are incorporated considering the guidance given by the theory of Ned Herrmann. Is evaluated, executed and planned according to the teaching of intelligence and the results of neuroscience research that revealed that in the brain combines the thinking, feeling and action proposals. It is as clear that the contexts involve certain teaching strategies that must be contextualized knowledge with emphasis on reality social utility and contextualization of knowledge. It is seen as learning changes the physical structure of the system, organizes and reorganizes the brain within the ethical orientation of human emancipation

17.
Rev. colomb. psicol ; 23(1): 95-106, ene.-jun. 2014. tab
Artículo en Español | LILACS | ID: lil-715320

RESUMEN

Se analizaron las Habilidades Sociales (HS) de 159 niños de ambos sexos, escolarizados, con Trastorno por Déficit de Atención-Hiperactividad (TDAH), entre los 6 y los 11 años de edad. La valoración de las HS se realizó con la escala Behavioral Assessment System for Children para padres y maestros. Los resultados mostraron que los niños con TDAH presentan puntajes más bajos en las dimensiones de habilidades sociales como escuchar, esperar turnos, reconocer señales sociales y tener capacidad de adaptabilidad. Sin embargo, en compañerismo, los participantes con TDAH combinado poseen habilidades semejantes a los no afectados. Esto replantea lo encontrado en la mayoría de los estudios en donde únicamente se evidencian deficiencias...


The study analyzed the Social Skills (SS) of 159 male and female school children between the ages of 6 and 11, suffering from Attention Deficit Hyperactivity Disorder (ADHD). The evaluation of SS was carried out with the Behavioral Assessment System for Children for use by parents and teachers. The results showed that children with ADHD feature lower scores in social skills such as listening, respecting turns, recognizing social signals, and adaptability. However, participants with ADHD proved to have companionship skills similar to those of unaffected children. This makes it necessary to rethink the findings of the majority of studies, which only reveal deficiencies...


Analisaram-se as Habilidades Sociais (HS) de 159 crianças, escolarizadas, com Transtorno por Déficit de Atenção-Hiperatividade (TDAH), entre 6 e 11 anos de idade. A valoração das HS se realizou com a escala Behavioral Assessment System for Children para pais e mestres. Os resultados mostraram que as crianças com TDAH apresentam pontuações mais baixas nas dimensões de HS como escutar, esperar a vez, reconhecer sinais sociais e ter capacidade de adaptabilidade. Contudo, em companheirismo, os participantes com TDAH combinado possuem habilidades semelhantes aos não afetados. Isso repropõe o encontrado na maioria dos estudos nos quais unicamente se evidenciam deficiências...


Asunto(s)
Humanos , Desarrollo Infantil , Trastornos Generalizados del Desarrollo Infantil , Psicopatología , Discapacidades del Desarrollo , Psicometría
18.
Univ. salud ; 15(1): 45-61, ene.-jun. 2013. tab
Artículo en Español | LILACS | ID: lil-677554

RESUMEN

Los cuestionarios comportamentales son herramientas eficaces para caracterizar el Trastorno por Déficit de Atención e Hiperactividad (TDAH) en la edad adulta. Se determinó de forma retrospectiva, las características conductuales de adultos afectados con TDAH, utilizando la Escala Wender Utah (WURS). La muestra estuvo compuesta por 102 adultos pertenecientes a 51 familias nucleares de la ciudad de Barranquilla. El diagnóstico de TDAH se realizó aplicando una entrevista estructurada psiquiátrica para adultos validada en Colombia y usada en estudios para genética del TDAH. Se realizó un examen neurológico y una evaluación neuropsicológica. Se analizaron las puntuaciones de corte y se calculó el tamaño del efecto, la sensibilidad y la especificidad de la escala, hallándose diferencias clínica y estadísticamente significativas en las puntuaciones de la WURS, mostrando tamaños del efecto de grandes a enormes. La escala permite diferenciar los sujetos afectados de los no afectados demostrando la existencia de síntomas del TDAH de manera retrospectiva. Es importante resaltar que la WURS puede ser usada como instrumento para el rastreo de síntomas de TDAH en el adulto, sin embargo se hace necesario complementar sus resultados con otros instrumentos para la comprobación multimodal del diagnóstico.


The behavioral questionnaires are effective tools to characterize the Attention Deficit Hyperactivity Disorder (ADHD) in adulthood. It was determined the behavioral characteristics of adults with ADHD in retrospect by using the Wender Utah Rating Scale (WURS). The sample consisted of 102 adults from 51 nuclear families in the city of Barranquilla. The diagnosis of ADHD was conducted using a structured psychiatric interview validated in Colombia, which is also used for genetic studies of ADHD. A neurological examination and a neuropsychological evaluation were made. The cutting scores were analyzed and the effect size, sensitivity and specificity of the scale were calculated. It was found that there are clinical and statistical significant differences in WURS scores, which showed large to enormous effect sizes. The scale distinguishes affected subjects from the unaffected ones, which proves the existence of ADHD symptoms in retrospect. It is important to highlight the WURS can be used as a tool for screening adult ADHD symptoms. However, it is necessary to complement its results with other tools for multimodal diagnostic testing.


Asunto(s)
Adulto , Trastorno por Déficit de Atención con Hiperactividad , Conducta , Adulto
19.
Acta neurol. colomb ; 24(2): 63-73, abr.-jun. 2008. tab
Artículo en Español | LILACS | ID: lil-638361

RESUMEN

INTRODUCCIÓN: aunque hay investigaciones cuyos resultados sugieren déficits en habilidades neuropsicológicas, subyacentes a los Trastornos del Aprendizaje (TEA), no hay consenso en la definición, el diagnóstico y la evaluación correspondiente. OBJETIVO: describir el perfil neuropsicológico de niños con TEA en: praxias, atención, memoria, lenguaje y habilidades ejecutivas. MATERIAL Y MÉTODOS: 746 Cuestionarios Evaluativos para Problemas de Aprendizaje (CEPA), para rastreo de sospechosos de TEA, fueron aplicados a niños de 43 colegios estrato 1, 2 y 3 de la ciudad de Barranquilla-Colombia. Se seleccionaron 31 participantes a los que les comprobó diagnóstico de TEA, usando un estándar de oro con el WISC III y la prueba de aprovechamiento académico de la batería psicoeducativa Woodcock-Muñoz-Sandoval. Las habilidades neuropsicológicas se establecieron con las siguientes pruebas: figura compleja de Rey-Osterrieth, curva de memoria Verbal, retención de dígitos, prueba de ejecución continua auditiva, Trail Making (TMT), vocabulario de Boston, fluidez verbal (FAS) fonológica y semántica. Se realizó una comparación de medias para las variables de estudio entre los sujetos del grupo con (TEA) con la población general de niños colombianos, utilizando la prueba T para una muestra independiente. RESULTADOS: los niños con (TEA) presentan un rendimiento significativamente inferior en pruebas que evalúan: atención, coordinación visomotora y la memoria, especialmente memoria de trabajo. CONCLUSIÓN: los niños con (TEA) presentan alteraciones cognitivas en diferentes dominios neuropsicológicos entre las que se encuentran déficit en memoria, atención y habilidades construcionales y visoespacia.


Asunto(s)
Humanos , Educación , Lenguaje , Memoria , Neuropsicología
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