RESUMEN
BACKGROUND: Children and young people (CYP) with intellectual and developmental disabilities (IDDs) have significant additional educational needs compared with the general population. In England, the government has established a system of education, health and care plans (EHCPs) to support children with special educational needs and disabilities, but disparities exist between the degree of need and the availability of support. We conducted a prospective UK national cohort study (IMAGINE) of children with rare pathogenic genomic variants, all of which are associated with IDD, to investigate associated neuropsychiatric risk. Subsequently, we obtained information from the UK's National Pupil Database on their educational progress through the state school system. We aimed to identify whether they had received EHCP provision and whether that support was associated with their family's socioeconomic status, region of domicile, ethnicity, sex, primary special educational needs (SEN) type, academic performance and mental health well-being. METHODS: We recruited 2738 CYP from England into the IMAGINE study between 2014 and 2019. The educational histories of the participants (6-28 years old, mean ± standard deviation = 14 ± 4 years, 56% male) were obtained from the Department for Education's National Pupil Database in 2021. Educational data included attainment scores from the Early Year Foundation Stage (<5 years) to key stage 4 (15-16 years). Each family was assigned an index of multiple deprivation (IMD) score based on their home address postcode. Parents or carers rated their child's emotional and behavioural adjustment on the Strengths and Difficulties Questionnaire (SDQ). The association between receiving an EHCP and the child's IMD score, eligibility for free school meals, English region of domicile, ethnicity, sex, primary SEN type, academic attainment and SDQ score was investigated. RESULTS: In this cohort, 78% of participants had received an EHCP. CYP living in the most deprived IMD deciles were substantially less likely to receive EHCP support than those in the least deprived decile, irrespective of their degree of intellectual developmental disability, academic performance or associated mental health problems. There were no sex differences. Children of Asian heritage were more likely to have been granted an EHCP than White children from equivalent IMD deciles. There were striking regional disparities. Participants living in London were significantly more likely to have been awarded an EHCP than participants living anywhere else in England, regardless of their IMD decile; those in the least deprived decile had almost 100% EHCP provision. CONCLUSIONS: This study found evidence for nationwide regional inconsistencies in the awarding of EHCP to CYP with significant intellectual impairments of known genetic aetiology. Disparities in funds available to education authorities could be a contributory factor. EHCP support was potentially influenced by how strongly a parent advocates for their child.
RESUMEN
BACKGROUND: The world has suffered immeasurably during the COVID-19 pandemic. Increased distress and mental and medical health concerns are collateral consequences to the disease itself. The Genes to Mental Health (G2MH) Network consortium sought to understand how individuals affected by the rare copy number variations of 22q11.2 deletion and duplication syndrome, associated with neurodevelopmental/neuropsychiatric conditions, were coping. The article focuses on worry and disruptions in medical care caused by the pandemic. METHODS: The University of Pennsylvania COVID-19 Stressor List and care disruption questions were circulated by 22 advocacy groups in English and 11 other languages. RESULTS: A total of 512 people from 23 countries completed the survey; most were caregivers of affected individuals. Worry about family members acquiring COVID-19 had the highest average endorsed worry, whilst currently having COVID-19 had the lowest rated worry. Total COVID-19 worries were higher in individuals completing the survey towards the end of the study (later pandemic wave); 36% (n = 186) of the sample reported a significant effect on health due to care interruption during the pandemic; 44% of individuals (n = 111) receiving care for their genetic syndrome in a hospital setting reported delaying appointments due to COVID-19 fears; 12% (n = 59) of the sample reported disruptions to treatments; and of those reporting no current disruptions, 59% (n = 269) worried about future disruptions if the pandemic continued. Higher levels of care disruptions were related to higher COVID-19 worries (Ps < 0.005). Minimal differences by respondent type or copy number variation type emerged. CONCLUSIONS: Widespread medical care disruptions and pandemic-related worries were reported by individuals with 22q11.2 syndrome and their family members. Reported worries were broadly consistent with research results from prior reports in the general population. The long-term effects of COVID-19 worries, interruptions to care and hospital avoidance require further study.
Asunto(s)
COVID-19 , Variaciones en el Número de Copia de ADN , Cuidadores , Cromosomas , Humanos , PandemiasRESUMEN
BACKGROUND: Young people with 22q11.2 deletion syndrome (22q11.2DS) are at high risk for neurodevelopmental disorders. Sleep problems may play a role in this risk but their prevalence, nature and links to psychopathology and cognitive function remain undescribed in this population. METHOD: Sleep problems, psychopathology, developmental coordination and cognitive function were assessed in 140 young people with 22q11.2DS (mean age = 10.1, s.d. = 2.46) and 65 unaffected sibling controls (mean age = 10.8, s.d.SD = 2.26). Primary carers completed questionnaires screening for the children's developmental coordination and autism spectrum disorder. RESULTS: Sleep problems were identified in 60% of young people with 22q11.2DS compared to 23% of sibling controls (OR 5.00, p < 0.001). Two patterns best-described sleep problems in 22q11.2DS: restless sleep and insomnia. Restless sleep was linked to increased ADHD symptoms (OR 1.16, p < 0.001) and impaired executive function (OR 0.975, p = 0.013). Both patterns were associated with elevated symptoms of anxiety disorder (restless sleep: OR 1.10, p = 0.006 and insomnia: OR 1.07, p = 0.045) and developmental coordination disorder (OR 0.968, p = 0.0023, and OR 0.955, p = 0.009). The insomnia pattern was also linked to elevated conduct disorder symptoms (OR 1.53, p = 0.020). CONCLUSIONS: Clinicians and carers should be aware that sleep problems are common in 22q11.2DS and index psychiatric risk, cognitive deficits and motor coordination problems. Future studies should explore the physiology of sleep and the links with the neurodevelopment in these young people.
Asunto(s)
Síndrome de Deleción 22q11/psicología , Disfunción Cognitiva/complicaciones , Trastornos del Sueño-Vigilia/epidemiología , Adolescente , Trastornos de Ansiedad/epidemiología , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastorno del Espectro Autista/epidemiología , Estudios de Casos y Controles , Niño , Cognición , Trastorno de la Conducta/epidemiología , Femenino , Humanos , Masculino , Prevalencia , Hermanos , Encuestas y CuestionariosRESUMEN
BACKGROUND: The phenotype of children with XXYY has predominantly been defined by comparison to other sex chromosome aneuploidies trisomies affecting male children; however, the intellectual ability of children with XXYY is lower than children with other sex chromosome aneuploidies trisomies. It is not known to what extent the phenotype identified to date is specific to XXYY, rather than a reflection of lower IQ. This study evaluates the mental health and behaviour of children with XXYY, in comparison to children with intellectual disabilities of heterogeneous genetic origin. METHODS: Fifteen children with XXYY and 30 controls matched for age (4-14 years), sex and intellectual ability were ascertained from the IMAGINE ID study. IMAGINE ID participants have intellectual disabilities due to genetic anomalies confirmed by National Health Service Regional Genetic Centre laboratories. The mental health and behaviour of participants was examined with the Development and Well-being Assessment and the Strengths and Difficulties Questionnaire. RESULTS: Children with XXYY experienced significantly more frequent and intense temper outbursts than the control group. CONCLUSION: Our results suggest that temper outbursts may be specifically associated with the XXYY phenotype. These problems have a significant impact on the daily lives of boys with XXYY and their families. It is crucial to ensure that families are well supported to manage these difficulties.
Asunto(s)
Ira/fisiología , Discapacidades del Desarrollo/fisiopatología , Discapacidad Intelectual/fisiopatología , Genio Irritable/fisiología , Síndrome de Klinefelter/fisiopatología , Problema de Conducta , Conducta Autodestructiva/fisiopatología , Adolescente , Niño , Preescolar , Estudios de Cohortes , Discapacidades del Desarrollo/complicaciones , Humanos , Discapacidad Intelectual/complicaciones , Síndrome de Klinefelter/complicaciones , Masculino , Conducta Autodestructiva/etiologíaRESUMEN
Rare copy number variants contribute significantly to the risk for schizophrenia, with the 22q11.2 locus consistently implicated. Individuals with the 22q11.2 deletion syndrome (22q11DS) have an estimated 25-fold increased risk for schizophrenia spectrum disorders, compared to individuals in the general population. The International 22q11DS Brain Behavior Consortium is examining this highly informative neurogenetic syndrome phenotypically and genomically. Here we detail the procedures of the effort to characterize the neuropsychiatric and neurobehavioral phenotypes associated with 22q11DS, focusing on schizophrenia and subthreshold expression of psychosis. The genomic approach includes a combination of whole-genome sequencing and genome-wide microarray technologies, allowing the investigation of all possible DNA variation and gene pathways influencing the schizophrenia-relevant phenotypic expression. A phenotypically rich data set provides a psychiatrically well-characterized sample of unprecedented size (n=1616) that informs the neurobehavioral developmental course of 22q11DS. This combined set of phenotypic and genomic data will enable hypothesis testing to elucidate the mechanisms underlying the pathogenesis of schizophrenia spectrum disorders.
Asunto(s)
Variaciones en el Número de Copia de ADN , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/fisiopatología , Adolescente , Adulto , Anciano , Niño , Estudios de Cohortes , Conducta Cooperativa , Minería de Datos , Femenino , Predisposición Genética a la Enfermedad , Genoma , Humanos , Masculino , Persona de Mediana Edad , Modelos Genéticos , Modelos Neurológicos , Fenotipo , Esquizofrenia/genética , Esquizofrenia/fisiopatología , Comunicación Académica , Adulto JovenRESUMEN
BACKGROUND: The 600 kb BP4-BP5 copy number variants (CNVs) at the 16p11.2 locus have been associated with a range of neurodevelopmental conditions including autism spectrum disorders and schizophrenia. The number of genomic copies in this region is inversely correlated with body mass index (BMI): the deletion is associated with a highly penetrant form of obesity (present in 50% of carriers by the age of 7 years and in 70% of adults), and the duplication with being underweight. Mechanisms underlying this energy imbalance remain unknown. OBJECTIVE: This study aims to investigate eating behavior, cognitive traits and their relationships with BMI in carriers of 16p11.2 CNVs. METHODS: We assessed individuals carrying a 16p11.2 deletion or duplication and their intrafamilial controls using food-related behavior questionnaires and cognitive measures. We also compared these carriers with cohorts of individuals presenting with obesity, binge eating disorder or bulimia. RESULTS: Response to satiety is gene dosage-dependent in pediatric CNV carriers. Altered satiety response is present in young deletion carriers before the onset of obesity. It remains altered in adolescent carriers and correlates with obesity. Adult deletion carriers exhibit eating behavior similar to that seen in a cohort of obesity without eating disorders such as bulimia or binge eating. None of the cognitive measures are associated with eating behavior or BMI. CONCLUSIONS: These findings suggest that abnormal satiety response is a strong contributor to the energy imbalance in 16p11.2 CNV carriers, and, akin to other genetic forms of obesity, altered satiety responsiveness in children precedes the increase in BMI observed later in adolescence.
Asunto(s)
Trastorno Autístico/genética , Trastorno Autístico/fisiopatología , Trastornos de los Cromosomas/genética , Trastornos de los Cromosomas/fisiopatología , Cromosomas Humanos Par 16/genética , Discapacidad Intelectual/genética , Discapacidad Intelectual/fisiopatología , Obesidad/genética , Saciedad , Adulto , Trastorno Autístico/complicaciones , Índice de Masa Corporal , Estudios de Casos y Controles , Niño , Deleción Cromosómica , Trastornos de los Cromosomas/complicaciones , Disfunción Cognitiva/etiología , Disfunción Cognitiva/genética , Disfunción Cognitiva/fisiopatología , Variaciones en el Número de Copia de ADN/genética , Metabolismo Energético/genética , Metabolismo Energético/fisiología , Función Ejecutiva , Conducta Alimentaria/fisiología , Femenino , Predisposición Genética a la Enfermedad , Humanos , Discapacidad Intelectual/complicaciones , Masculino , Obesidad/etiología , Obesidad/fisiopatología , Fenotipo , Eliminación de Secuencia/genética , SuizaRESUMEN
BACKGROUND: Genetic and environmental influences on child psychopathology have been studied extensively through twin and adoption designs. We offer a novel methodology to examine genetic and environmental influences on the intergenerational transmission of psychopathology using a sample of parents and children conceived through in vitro fertilization (IVF). METHOD: The sample included families with children born through IVF methods, who varied as to whether the child was genetically related or unrelated to the rearing mother and father (mother genetically related, n=434; mother genetically unrelated, n=127; father genetically related, n=403; father genetically unrelated, n=156). Using standardized questionnaires, mothers and fathers respectively reported on their own psychopathology (depression, aggression), their parenting behavior toward their child (warmth, hostility) and their child's psychopathology (depression, aggression). A cross-rater approach was used, where opposite parents reported on child symptoms (i.e. fathers reported on symptoms for the mother-child dyad, and vice versa). RESULTS: For mother-child dyads, a direct association between mother depression and child depression was observed among genetically unrelated dyads, whereas a fully mediated path was observed among genetically related dyads through mother-to-child hostility and warmth. For father-child dyads, direct and mediated pathways were observed for genetically related father-child dyads. For aggression, the direct association between parent aggression and child aggression was fully mediated by parent-to-child hostility for both groups, indicating the role of parent-to-child hostility as a risk mechanism for transmission. CONCLUSIONS: A differential pattern of genetic and environmental mediation underlying the intergenerational transmission of psychopathology was observed among genetically related and genetically unrelated father-child and mother-child dyads.
Asunto(s)
Trastorno Depresivo Mayor/diagnóstico , Trastorno Depresivo Mayor/genética , Interacción Gen-Ambiente , Responsabilidad Parental/psicología , Medio Social , Adulto , Anciano , Agresión/psicología , Trastorno de Personalidad Antisocial/diagnóstico , Trastorno de Personalidad Antisocial/genética , Trastorno de Personalidad Antisocial/psicología , Niño , Preescolar , Trastorno Depresivo Mayor/psicología , Relaciones Padre-Hijo , Femenino , Fertilización In Vitro/psicología , Hostilidad , Humanos , Masculino , Persona de Mediana Edad , Relaciones Madre-Hijo , Factores de Riesgo , Estadística como Asunto , Adulto JovenRESUMEN
BACKGROUND: Exposure to prenatal stress is associated with later adverse health and adjustment outcomes. This is generally presumed to arise through early environmentally mediated programming effects on the foetus. However, associations could arise through factors that influence mothers' characteristics and behaviour during pregnancy which are inherited by offspring. METHOD: A 'prenatal cross-fostering' design where pregnant mothers are related or unrelated to their child as a result of in vitro fertilization (IVF) was used to disentangle maternally inherited and environmental influences. If links between prenatal stress and offspring outcome are environmental, association should be observed in unrelated as well as related mother-child pairs. Offspring birth weight and gestational age as well as mental health were the outcomes assessed. RESULTS: Associations between prenatal stress and offspring birth weight, gestational age and antisocial behaviour were seen in both related and unrelated mother-offspring pairs, consistent with there being environmental links. The association between prenatal stress and offspring anxiety in related and unrelated groups appeared to be due to current maternal anxiety/depression rather than prenatal stress. In contrast, the link between prenatal stress and offspring attention deficit hyperactivity disorder was only present in related mother-offspring pairs and therefore was attributable to inherited factors. CONCLUSIONS: Genetically informative designs can be helpful in testing whether inherited factors contribute to the association between environmental risk factors and health outcomes. These results suggest that associations between prenatal stress and offspring outcomes could arise from inherited factors and post-natal environmental factors in addition to causal prenatal risk effects.
Asunto(s)
Desarrollo Infantil/fisiología , Trastornos Mentales/epidemiología , Trastornos Mentales/genética , Perinatología , Medio Social , Trastorno de Personalidad Antisocial/diagnóstico , Trastorno de Personalidad Antisocial/epidemiología , Trastornos de Ansiedad/diagnóstico , Trastornos de Ansiedad/epidemiología , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Peso al Nacer , Niño , Preescolar , Femenino , Edad Gestacional , Humanos , Lactante , Recién Nacido , Masculino , Trastornos Mentales/diagnóstico , Relaciones Madre-Hijo , Embarazo , Complicaciones del Embarazo/epidemiología , Estudios ProspectivosRESUMEN
Gene x environment (G x E) interactions are increasingly thought to have substantial influence on the aetiology and clinical manifestations of complex disorders. In ADHD, although main effects of specific genetic variants and pre- or peri-natal variables have been reported and replicated using pooled analyses, few studies have looked at possible interactions. In a clinical sample of 266 children with ADHD, we tested for interaction between gene variants (in DRD4, DAT1, DRD5, and 5HTT) found to be associated with ADHD in pooled analyses and maternal smoking, alcohol use during pregnancy and birth weight. First, G x E effects on a diagnosis of ADHD were tested using conditional logistic regression analyses. Second, possible modifying effects of G x E on symptoms of associated conduct disorder and oppositional defiant disorder (ODD) were investigated using linear regression analysis. The sample size associated with each of the analyses differed as not each variant had been genotyped for each individual. No effects of G x E on ADHD diagnosis were observed. The results suggest that lower birth weight and maternal smoking during pregnancy may interact with DRD5 and DAT1 (birth weight only) in influencing associated antisocial behavior symptoms (ODD and conduct disorder). These preliminary findings showed no evidence of interaction between previously implicated variants in ADHD and specific environmental risk factors, on diagnosis of the disorder. There may be evidence of G x E on associated antisocial behavior in ADHD, but further investigation is needed.
Asunto(s)
Trastorno de Personalidad Antisocial/etiología , Trastorno por Déficit de Atención con Hiperactividad/etiología , Consumo de Bebidas Alcohólicas/efectos adversos , Trastorno de Personalidad Antisocial/genética , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/genética , Peso al Nacer , Niño , Femenino , Genotipo , Humanos , Desequilibrio de Ligamiento , Exposición Materna , Embarazo , Fumar/efectos adversosRESUMEN
BACKGROUND: Research into genes involved in alcoholism could benefit from use of diagnostic systems most sensitive to detecting genetic influences. In this study, heritable influences were estimated in a single twin sample with commonly used criteria for alcoholism. METHODS: Male twin probands ascertained through alcohol and drug abuse treatment programs and their same-sex cotwins (54 monozygotic and 65 dizygotic pairs) were diagnosed independently by DSM-III (alcohol dependence and alcohol abuse and/or dependence), Feighner (probable and definite alcoholism), and Cloninger (type 1 and type 2 alcoholism) systems. Using univariate structural equation modeling, heritability was estimated for each diagnostic system. RESULTS: The highest heritability estimates were obtained for Feighner probable alcoholism (h2 = .63), Cloninger type 2 alcoholism (h2 = .54), and DSM-III alcohol dependence (h2 = .52). CONCLUSIONS: Certain diagnostic systems appear to have greater sensitivity for detecting genetic influence and may therefore be more appropriate for use in molecular genetic studies attempting to find genes for alcoholism.
Asunto(s)
Alcoholismo/diagnóstico , Alcoholismo/genética , Adolescente , Adulto , Anciano , Alcoholismo/psicología , Análisis de Varianza , Humanos , Masculino , Persona de Mediana Edad , Modelos Genéticos , Escalas de Valoración Psiquiátrica , Estudios en Gemelos como Asunto , Gemelos Dicigóticos , Gemelos MonocigóticosRESUMEN
BACKGROUND: Clinicians and researchers could benefit from a greater understanding of the role of genetic and environmental factors in human eating behavior. OBJECTIVE: Our aim was to estimate the relative influence of genetic and environmental factors on habitual eating patterns in middle-aged and elderly men and women. DESIGN: Male and female twins (n = 4640) aged >/=50 y completed a mailed version of the National Cancer Institute food-frequency questionnaire. Factor analysis was performed to identify eating patterns among respondents. Estimates of genetic, common environmental (shared by family members), and specific environmental (unique to an individual) influences were obtained for food use, serving size, and consumption frequency by comparing monozygotic and dizygotic twin-pair groups with structural equation analysis. RESULTS: Two independent eating patterns were identified: the first consisted of items high in fat, salt, and sugar, and the second reflected healthful eating habits. Although the influence of environmental factors was larger, between 15% and 38% of the total variation in pattern 1 and between 33% and 40% in pattern 2 were explained by genetic influences. Models accounting for sex differences in genetic and environmental estimates fit the data significantly better for food use and serving size of foods in eating pattern 1 and for food use in eating pattern 2. CONCLUSION: Although 60-85% of the variability in eating patterns was associated with environmental factors, genetic influences were also apparent and there was some evidence of sex specificity. These findings may be important in crafting dietary interventions and predicting adherence to these interventions.
Asunto(s)
Ingestión de Alimentos/genética , Conducta Alimentaria/psicología , Medio Social , Anciano , Encuestas sobre Dietas , Ingestión de Alimentos/fisiología , Ingestión de Alimentos/psicología , Escolaridad , Empleo , Análisis Factorial , Conducta Alimentaria/fisiología , Femenino , Humanos , Masculino , Estado Civil , Persona de Mediana Edad , Modelos Biológicos , Factores Sexuales , Clase Social , Encuestas y Cuestionarios , Gemelos Dicigóticos , Gemelos MonocigóticosRESUMEN
The eating disorders are severe psychiatric illnesses with significant morbidity and mortality that exhibit statistically significant familial risk and heritability, providing support for a molecular genetic approach toward defining etiological factors. An emerging candidate gene literature has concentrated on serotinergic and dopaminergic candidates. With the financial support of the Price Foundation, a group of investigators initiated an international multi-center collaboration (Price Foundation Collaborative Group) in 1995 to study the genetics of anorexia and bulimia nervosa by collecting and analyzing phenotypes and genotypes of individuals and their relatives affected with eating disorders. The first sample of families collected by this collaborative group, known as the Price Foundation Anorexia Nervosa Affected Relative Pair (AN-ARP) dataset, was ascertained on an proband affected with Anorexia Nervosa (AN), with relative pairs affected with the eating disorders AN, Bulimia Nervosa or Eating Disorders Not Otherwise Specified [1]. Biognosis U.S., Inc. was founded to identify and characterize candidate susceptibility genes for anorexia and bulimia nervosa phenotypes in the Price Foundation eating disorder datasets. During 2000-2001, Biognosis U.S., Inc. developed and implemented a research program with a focus on the analysis of candidate genes nominated by neurochemical characteristics of eating disorder patients [2], serotonergic and dopaminergic candidate gene polymorphisms [3], neuroendocrine regulation of appetite [4], and by a positional hypothesis from a linkage analysis of the AN-ARP dataset [5]. This report reviews the anorexia nervosa candidate gene literature through 2001, the candidate gene research program implemented at Biognosis U.S., Inc. and selected candidate gene findings in the AN-ARP dataset derived from that research program.
Asunto(s)
Anorexia Nerviosa/genética , Bases de Datos Genéticas , Fundaciones , Polimorfismo Genético , Tecnología Farmacéutica/métodos , Animales , Bases de Datos Genéticas/economía , Bases de Datos Genéticas/normas , Bases de Datos Genéticas/estadística & datos numéricos , Fundaciones/economía , Fundaciones/organización & administración , Marcadores Genéticos , HumanosRESUMEN
While an association between antisocial personality disorder (APD) and substance use disorder (SUD) has been frequently observed, the causes of the comorbidity remain unclear. Adoption and twin studies have found evidence of both genetic and environmental influences in APD and SUD. Therefore, comorbidity between APD and SUD may be the result of shared genetic influences, shared environmental influences, or a combination of the two. However, only a limited number of adoption and twin studies have addressed this issue and the results have not been conclusive. In future studies, a distinction should be made between alcohol and drug abuse and between juvenile and adult APD symptoms. Twin samples of adequate size would allow use of structural equation analytical methods for estimation of the relative magnitude of genetic and environmental influences shared between the two conditions, as well as influences contributing to each specifically. Results would be highly relevant for the clinical setting as well as for efforts to identify the genes involved in either trait.
Asunto(s)
Trastorno de Personalidad Antisocial/genética , Trastornos Relacionados con Sustancias/genética , Adopción , Adulto , Trastorno de Personalidad Antisocial/epidemiología , Comorbilidad , Ambiente , Salud de la Familia , Humanos , Proyectos de Investigación , Trastornos Relacionados con Sustancias/epidemiología , Estudios en Gemelos como AsuntoRESUMEN
To assess relative contribution of genetic and environmental influences in individual cases of drug abuse/dependence, separate scales were constructed from DIS (version III) drug symptom items. Using data from 38 MZ and 35 DZ male twin pairs, items with significant MZ/DZ differences in probandwise concordance were assigned to a genetic scale whereas items without significant MZ/DZ differences were assigned to an environmental scale. As expected, significant differences were found between MZ and DZ twins in intraclass correlations for the genetic but not environmental scale. Genetic scores on drug and alcohol scales were correlated (r = 0.40), whereas environmental scales were not. When scores on the genetic scales were compared, the correlation between drug and alcohol scores within individuals was similar to that across MZ twins, both of which were higher than the correlation across DZ twins. These results suggest (1) relative contribution of genetic and environmental influences in individual cases of drug dependence can be assessed, and (2) common genetic mechanisms may be involved in alcohol and drug dependence.
Asunto(s)
Alcoholismo/genética , Enfermedades en Gemelos/genética , Drogas Ilícitas , Psicotrópicos , Medio Social , Trastornos Relacionados con Sustancias/genética , Adolescente , Adulto , Alcoholismo/psicología , Alcoholismo/rehabilitación , Enfermedades en Gemelos/psicología , Humanos , Masculino , Persona de Mediana Edad , Determinación de la Personalidad , Desarrollo de la Personalidad , Factores de Riesgo , Trastornos Relacionados con Sustancias/psicología , Trastornos Relacionados con Sustancias/rehabilitación , Gemelos Dicigóticos/genética , Gemelos Dicigóticos/psicología , Gemelos Monocigóticos/genética , Gemelos Monocigóticos/psicologíaRESUMEN
Twins were recruited through alcohol and drug treatment programs. With structural equation modeling, genetic and environmental estimates were obtained for use and DSM-III abuse/dependence of sedatives, opioids, cocaine, stimulants, and cannabis as well as any illicit drug. Analyses were conducted separately for males and females. Models included thresholds based on population prevalence of use or abuse/dependence and ever having been in treatment. Genetic influences were found for most measures. They were generally stronger for males than females and for clinical diagnoses of abuse/dependence compared to use. Common environmental influences played a greater role in use than abuse/dependence.
Asunto(s)
Enfermedades en Gemelos/genética , Drogas Ilícitas , Psicotrópicos , Medio Social , Trastornos Relacionados con Sustancias/genética , Adolescente , Adulto , Alcoholismo/genética , Alcoholismo/psicología , Alcoholismo/rehabilitación , Enfermedades en Gemelos/psicología , Femenino , Predisposición Genética a la Enfermedad/genética , Predisposición Genética a la Enfermedad/psicología , Humanos , Masculino , Persona de Mediana Edad , Minnesota , Factores de Riesgo , Trastornos Relacionados con Sustancias/psicología , Trastornos Relacionados con Sustancias/rehabilitaciónRESUMEN
The contribution of genetic and environmental factors to the covariation between risk-taking and marijuana use was assessed in adolescent twins. Genetic factors were found to significantly influence some traits (i.e. risk-taking attitude), while familial environmental factors were important for others (i.e. sexual promiscuity). For marijuana use, genetic and environmental factors were equally important; however, the association between risk taking and marijuana use may not be comparable for different behaviors. Results suggest that different etiological factors may underlie various risk taking traits which is relevant to both prevention efforts and attempts to identify genes involved in risk taking and shared genetic influences with substance use.
Asunto(s)
Familia , Abuso de Marihuana/epidemiología , Asunción de Riesgos , Conducta Sexual/estadística & datos numéricos , Medio Social , Adolescente , Adulto , Distribución de Chi-Cuadrado , Intervalos de Confianza , Familia/psicología , Femenino , Humanos , Modelos Lineales , Masculino , Abuso de Marihuana/genética , Abuso de Marihuana/psicología , Conducta Sexual/psicologíaRESUMEN
Influence of parental alcohol/substance abuse on methadone maintenance therapy (MMT) outcome was examined in 164 DSM-III-R opioid dependent adults with no other current DSM Axis I disorder. Family history positive patients had more DSM-III-R opioid dependence symptoms and were more likely to be classified as severely dependent. However, when placed on identical daily doses of methadone (50 mg), they had lower rates of illicit opioid use but higher rates of cocaine use than family history negative patients. Both effects remained significant after adjusting for gender and race. These results suggest that common genetic factors may underlie both susceptibility to heroin dependence and response to therapeutic methadone treatment.
Asunto(s)
Trastornos Relacionados con Cocaína/genética , Dependencia de Heroína/genética , Metadona , Narcóticos , Padres , Adulto , Distribución de Chi-Cuadrado , Trastornos Relacionados con Cocaína/orina , Femenino , Dependencia de Heroína/rehabilitación , Dependencia de Heroína/orina , Humanos , Modelos Logísticos , Masculino , Metadona/uso terapéutico , Persona de Mediana Edad , Narcóticos/uso terapéutico , Trastornos Relacionados con Sustancias/genética , Resultado del TratamientoRESUMEN
A series of experiments on intersensory facilitation demonstrates that non-informative sound of low to moderate intensity (30/80 dB) facilitates the reaction to a visual stimulus. By manipulating the preprocessing and perceptual stages of the visual signals, it appears that auditory intensity reduces choice reaction time independently from the positive influence of the intensity and duration of the visual imperative signal, but interacts with the effect of stimulus degradation. Degraded stimuli take more profit of the sound than intact stimuli. Besides a short-term activation effect, originated by accessories of the auditory modality, on the motor adjustment stage (cf. Sanders 1983), the results suggest that the accessory influences the stage of feature extraction.
Asunto(s)
Atención , Percepción Sonora , Tiempo de Reacción , Percepción Visual , Adulto , Señales (Psicología) , Femenino , Humanos , MasculinoRESUMEN
AIMS: To assess the comorbidity rates of alcohol use disorders (AUDs) in bipolar disorder (BD) and to explore possible sources of heterogeneity. METHODS: Studies were identified through database searches. Meta-analytic techniques were employed to aggregate data on lifetime comorbidity and to explore possible sources of heterogeneity. Funnel plots were used to detect publication bias. RESULTS: In clinical studies, AUDs affected more than one in three subjects with BD. Significant heterogeneity was found, which was largely explained by the geographical location of study populations and gender ratio of participants. AUDs affected more than one in five women and two in five men. CONCLUSION: AUDs are highly prevalent in BD. Our study revealed a substantial heterogeneity across studies. Further research including control groups is needed. Patients with BD should be assessed for current and previous AUDs.
Asunto(s)
Alcoholismo/epidemiología , Trastorno Bipolar/epidemiología , Comorbilidad , HumanosRESUMEN
Attention deficit hyperactivity disorder (ADHD) is a common childhood psychiatric disorder which affects between 3% and 5% of school aged children. Despite much research, little is known regarding the aetiology of the disorder. Maternal cigarette smoking during pregnancy has been linked to a number of negative effects in offspring in infancy, childhood and even into adulthood and has been proposed as a possible risk factor for ADHD. The aim of this review was to discuss the evidence associating maternal smoking during pregnancy and ADHD as well as methodological issues concerning this association. A literature search using PubMed was employed using relevant keywords. The relevant reference sections of articles found were also searched. All English language studies published before June 2005 were assessed. A pooled odds ratio derived from case-control studies was also obtained. Despite methodological limitations, the majority of studies identify maternal smoking during pregnancy as a risk factor for ADHD behaviours. A pooled odds ratio indicates more than a two-fold increase in risk for a diagnosis of ADHD in those individuals whose mothers smoked during pregnancy (odds ratio 2.39, 95% confidence intervals 1.61, 3.52 P<0.001). Maternal smoking during pregnancy is a risk factor for ADHD behaviour and diagnoses, although the mechanisms through which such risks work is unknown.