Functional Dysconnectivity in Ventral Striatocortical Systems in 22q11.2 Deletion Syndrome.

22q11.2 deletion syndrome (22q11.2DS) is a genetic neurodevelopmental disorder that represents one of the greatest known risk factors for psychosis. Previous studies in psychotic subjects without the deletion have identified a dopaminergic dysfunction in striatal regions, and dysconnectivity of striatocortical systems, as an important mechanism in the emergence of psychosis. Here, we used resting-state functional MRI to examine striatocortical functional connectivity in 22q11.2DS patients. We used a 2 × 2 factorial design including 125 subjects (55 healthy controls, 28 22q11.2DS patients without a history of psychosis, 10 22q11.2DS patients with a history of psychosis, and 32 subjects with a history of psychosis without the deletion), allowing us to identify network effects related to the deletion and to the presence of psychosis. In line with previous results from psychotic patients without 22q11.2DS, we found that there was a dorsal to ventral gradient of hypo- to hyperstriatocortical connectivity related to psychosis across both patient groups. The 22q11.2DS was additionally associated with abnormal functional connectivity in ventral striatocortical networks, with no significant differences identified in the dorsal system. Abnormalities in the ventral striatocortical system observed in these individuals with high genetic risk to psychosis may thus reflect a marker of illness risk.

Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome.

The 22q11 deletion syndrome is a genetic disorder associated with a high risk of developing psychosis, and is therefore considered a neurodevelopmental model for studying the pathogenesis of schizophrenia. Studies have shown that localized abnormal functional brain connectivity is present in 22q11 deletion syndrome like in schizophrenia. However, it is less clear whether these abnormal cortical interactions lead to global or regional network disorganization as seen in schizophrenia. We analyzed from a graph-theory perspective fMRI data from 40 22q11 deletion syndrome patients and 67 healthy controls, and reconstructed functional networks from 105 brain regions. Between-group differences were examined by evaluating edge-wise strength and graph theoretical metrics of local (weighted degree, nodal efficiency, nodal local efficiency) and global topological properties (modularity, local and global efficiency). Connectivity strength was globally reduced in patients, driven by a large network comprising 147 reduced connections. The 22q11 deletion syndrome network presented with abnormal local topological properties, with decreased local efficiency and reductions in weighted degree particularly in hub nodes. We found evidence for abnormal integration but intact segregation of the 22q11 deletion syndrome network. Results suggest that 22q11 deletion syndrome patients present with similar aberrant local network organization as seen in schizophrenia, and this network configuration might represent a vulnerability factor to psychosis.

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.

The 22q11.2 deletion syndrome is caused by non-allelic homologous recombination events during meiosis between low copy repeats (LCR22) termed A, B, C, and D. Most patients have a typical LCR22A-D (AD) deletion of 3 million base pairs (Mb). In this report, we evaluated IQ scores in 1,478 subjects with 22q11.2DS. The mean of full scale IQ, verbal IQ, and performance IQ scores in our cohort were 72.41 (standard deviation-SD of 13.72), 75.91(SD of 14.46), and 73.01(SD of 13.71), respectively. To investigate whether IQ scores are associated with deletion size, we examined individuals with the 3 Mb, AD (n = 1,353) and nested 1.5 Mb, AB (n = 74) deletions, since they comprised the largest subgroups. We found that full scale IQ was decreased by 6.25 points (p = .002), verbal IQ was decreased by 8.17 points (p = .0002) and performance IQ was decreased by 4.03 points (p = .028) in subjects with the AD versus AB deletion. Thus, individuals with the smaller, 1.5 Mb AB deletion have modestly higher IQ scores than those with the larger, 3 Mb AD deletion. Overall, the deletion of genes in the AB region largely explains the observed low IQ in the 22q11.2DS population. However, our results also indicate that haploinsufficiency of genes in the LCR22B-D region (BD) exert an additional negative impact on IQ. Furthermore, we did not find evidence of a confounding effect of severe congenital heart disease on IQ scores in our cohort.

Reflexiones en torno a la adherencia a tratamiento de las personas en situación de enfermedad / Reflections about treatment adherence to treatment of people living in illness

La relación profesional- paciente es muy importante para promover una buena adherencia. Sin embargo los pacientes admiten que con relativa frecuencia, abandonan la medicación, la dieta, la práctica de ejercicios, o cualquier otra intervención terapéutica. Esto afecta a largo plazo la calidad de vida. El éxito del tratamiento depende de ambos: médico/ terapeuta y paciente. Para una sólida adherencia, el tratante requiere de competencias técnicas y de herramientas y habilidades comunicacionales...

The relationship with the patient is very important in order to promote good adherence. Nevertheless, patients admit that it's getting more common to stop taking pills, maintaining diets and exercise, or another medical/ therapeutic interventions. This affects the quality of life in the long term. The success of the treatment depends on both the doctor/therapist, and patient. For solid adherence the specialists require technical competence and communicational skills and abilities...

Perfil psicológico de 33 mujeres obesas consultantes a un programa de tratamiento de la obesidad / Pychological profile of 33 obese women in an obesity program

La obesidad es una compleja y discapacitante condición. Los programas de tratamiento han tenido poco éxito en mantener a los sujetos tratados en un peso aceptable. Los factores psicológicos han sido frecuentemente mencionados, pero poco utilizados en el diseño de programas de tratamiento. Objetivo. Evaluar las características psicológicas de treinta y tres mujeres obesas, consultantes al programa de obesidad del Hospital Clínico de la Universidad de Chile entre 2000 y 2002. Método. Fueron evaluadas a través del cuestionario Multifásico de Personalidad de Minnesota (MMPI), el inventario de Beck para la depresividad (BDI), la escala de alexitimia de Toronto(TAS), el test de Rorschach y una encuesta para determinar: peso, talla, índice de masa corporal, conducta alimentaria y motivación para el tratamiento. Resultados. Diecisiete pacientes eran obesas mórbidas (IMC>40). dieciséis eran obesas (IMC 30-40). el 27,7 por ciento presentaban atracones, sugerentes de un trastorno por atracones (BED). el 39,3por ciento tenían niveles moderados de depresividad el 63,6 por ciento niveles significativos de alexitimia (33,3 por ciento alexitimia elevada y 30,3por ciento alexitimia leve). En el MMPI se encontraron elevadas escalas de Hiponcondriasis (Hs) y Depresión (D). En el test de Rorschach se encontró un precario control de impulsos, baja tolerancia de angustia y frustración, elevados niveles de ansiedad y angustia destructiva, vínculos interpersonales demandantes y dependientes y conflictos en el desempeño del rol sexual.