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BACKGROUND: Chromosome 22q11.2 deletion syndrome (22q11DS) is a common genetic disorder with high rates of psychosis and other psychopathologies, but few studies discuss treatment. Our aim was to characterize the prevalence and treatment of major psychiatric illnesses in a well-characterized sample of individuals with 22q11DS. METHOD: This was a cross-sectional study of 112 individuals aged 8 to 45 years with a confirmed diagnosis of 22q11DS. Each participant was administered a modified Schedule for Affective Disorders and Schizophrenia for School-Age Children (K-SADS) and the Structured Interview for Prodromal Syndromes (SIPS). Phenotypes assessed were threshold and subthreshold psychosis, depression, mania, generalized and separation anxiety, obsessions/compulsions, inattention/hyperactivity and substance use. Histories of mental health care and current psychotropic treatment were obtained. RESULTS: Psychopathology was common, with 79% of individuals meeting diagnostic criteria for a disorder at the time of assessment. Diagnoses of psychosis were made in 11% of cases, attenuated positive symptom syndrome (APS) in 21%, and 47% experienced significant subthreshold symptoms. Peak occurrence of psychosis risk was during adolescence (62% of those aged 12-17 years). Criteria for a mood disorder were met by 14%, for anxiety disorder 34% and for attention deficit hyperactivity disorder (ADHD) 31%. Mental health care had been received by 63% of individuals in their lifetime, but only 40% continued therapy and 39% used psychotropics. Antipsychotics were used by 42% of participants with psychosis and none of the participants with APS. Half of those at risk for psychosis were receiving no mental health care. CONCLUSIONS: Psychopathology is common in 22q11DS but is not adequately treated or clinically followed. Particular attention should be paid to subthreshold psychotic symptoms, especially in adolescents.
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Trastornos de Ansiedad/etiología , Trastorno por Déficit de Atención con Hiperactividad/etiología , Síndrome de DiGeorge/complicaciones , Trastornos del Humor/etiología , Trastornos Psicóticos/etiología , Adolescente , Adulto , Trastornos de Ansiedad/epidemiología , Trastornos de Ansiedad/terapia , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastorno por Déficit de Atención con Hiperactividad/terapia , Niño , Síndrome de DiGeorge/epidemiología , Femenino , Humanos , Masculino , Servicios de Salud Mental/estadística & datos numéricos , Persona de Mediana Edad , Trastornos del Humor/epidemiología , Trastornos del Humor/terapia , Prevalencia , Trastornos Psicóticos/epidemiología , Trastornos Psicóticos/terapia , Adulto JovenRESUMEN
BACKGROUND: Psychotic symptoms, also termed psychotic-like experiences (PLEs) in the absence of psychotic disorder, are common in adolescents and are associated with increased risk of schizophrenia-spectrum illness in adulthood. At the same time, schizophrenia is associated with deficits in social cognition, with deficits particularly documented in facial emotion recognition (FER). However, little is known about the relationship between PLEs and FER abilities, with only one previous prospective study examining the association between these abilities in childhood and reported PLEs in adolescence. The current study was a cross-sectional investigation of the association between PLEs and FER in a sample of Irish adolescents. METHOD: The Adolescent Psychotic-Like Symptom Screener (APSS), a self-report measure of PLEs, and the Penn Emotion Recognition-40 Test (Penn ER-40), a measure of facial emotion recognition, were completed by 793 children aged 10-13 years. RESULTS: Children who reported PLEs performed significantly more poorly on FER (ß=-0.03, p=0.035). Recognition of sad faces was the major driver of effects, with children performing particularly poorly when identifying this expression (ß=-0.08, p=0.032). CONCLUSIONS: The current findings show that PLEs are associated with poorer FER. Further work is needed to elucidate causal relationships with implications for the design of future interventions for those at risk of developing psychosis.
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Emociones , Expresión Facial , Trastornos Psicóticos/psicología , Reconocimiento en Psicología , Adolescente , Niño , Estudios Transversales , Femenino , Humanos , Irlanda/epidemiología , Masculino , Estudios Prospectivos , Psicometría , Trastornos Psicóticos/epidemiología , Autoinforme , Encuestas y CuestionariosRESUMEN
Verbal fluency deficits in schizophrenia are difficult to interpret because the tasks are multi-factorial and groups differ in total words generated. We manipulated retrieval and switching demands by requiring alternation between over-learned sequences in which retrieval is relatively automatic (OS) and semantic categories requiring increased retrieval effort (SC). Controlled processing was also manipulated by including switching and non-switching conditions, and formal thought disorder (FTD) was assessed with the communication disorders index (CDI). The OS/SC semantic fluency paradigm was administered during fMRI to 13 patients with schizophrenia and 14 matched controls. Images were acquired on a 3 Tesla Siemens scanner using compressed image acquisition to allow for cued overt word production. Subjects alternated between OS, SC, OS-switch, SC-switch, and baseline blocks. Images were pre-processed in SPM-2, and a two-stage random effects analysis tested within and between group contrasts. There were no group performance differences. fMRI analysis did not reveal any group differences during the OS non-switching condition. Both groups produced expected activation in bilateral prefrontal and inferior parietal regions. However, during the SC condition patients had greater activation than controls in left prefrontal, right anterior cingulate, right superior temporal, bilateral thalamus, and left parietal regions. There was also evidence of patient over-activation in prefrontal, superior temporal, superior parietal, and visual association areas when a switching component was added. FTD was negatively correlated with BOLD response in the right anterior cingulate, cuneus and superior frontal gyrus during increased retrieval demand, and positively correlated with fMRI activation in the left lingual gyrus, right fusiform gyrus and left superior parietal lobule during increased switching demand. These results indicate that patients are able to successfully perform effortful semantic fluency tasks during non-speeded conditions. When retrieval is relatively automatic there does not appear to be an effect of schizophrenia on fMRI response. However, when retrieval and controlled processing demands increase, patients have greater activation than controls despite unimpaired task performance. This inefficient BOLD response may explain why patients are slower and less accurate on standard self-paced fluency tasks.
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Nivel de Alerta/fisiología , Atención/fisiología , Encéfalo/fisiopatología , Procesamiento de Imagen Asistido por Computador , Imagenología Tridimensional , Imagen por Resonancia Magnética , Recuerdo Mental/fisiología , Esquizofrenia/fisiopatología , Psicología del Esquizofrénico , Semántica , Conducta Verbal/fisiología , Adulto , Mapeo Encefálico , Corteza Cerebral/fisiopatología , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/fisiopatología , Trastornos del Conocimiento/psicología , Dominancia Cerebral/fisiología , Femenino , Humanos , Masculino , Red Nerviosa/fisiopatología , Esquizofrenia/diagnóstico , Medición de la Producción del Habla , Pensamiento/fisiologíaRESUMEN
BACKGROUND: Previous investigations have found impaired recognition of facial affect in schizophrenia. Controversy exists as to whether this impairment represents a specific emotion recognition deficit when compared with other face recognition control tasks. Regardless of whether the emotion processing deficit is differential, it may uniquely influence other manifestations of schizophrenia. We compared patients and healthy control subjects on computerized tasks of emotion and age recognition. Performances on emotion and age recognition tasks were correlated with cognitive functioning and with symptomatology. METHODS: Thirty-five patients with schizophrenia and 45 healthy people underwent computerized testing for emotion and age recognition. Participants were assessed neuropsychologically, and patients were rated for positive and negative symptoms. RESULTS: The patients with schizophrenia performed worse than control subjects on emotion and age recognition without differential deficit. In both groups, we found higher error rates for identification of emotion in female faces and for identification of sad versus happy faces. In schizophrenic patients, emotion but not age recognition correlated with severity of negative and positive symptoms. In healthy control subjects, neither task correlated with cognitive functions. In schizophrenic patients, emotion but not age recognition correlated with attention, verbal and spatial memory, and language abilities. CONCLUSIONS: This study did not reveal a specific deficit for emotion recognition in schizophrenia; however, our findings lend support to the concept that emotion recognition is uniquely associated in schizophrenia with core symptomatology and cognitive domains.
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Afecto/fisiología , Síntomas Afectivos/complicaciones , Trastornos del Conocimiento/etiología , Recuerdo Mental/fisiología , Esquizofrenia/complicaciones , Adulto , Síntomas Afectivos/diagnóstico , Trastornos del Conocimiento/diagnóstico , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas , Índice de Severidad de la EnfermedadRESUMEN
OBJECTIVE: Neuropsychological studies have shown that deficits in verbal episodic memory in schizophrenia occur primarily during encoding and retrieval stages of information processing. The current study used positron emission tomography to examine the effect of schizophrenia on change in cerebral blood flow (CBF) during these memory stages. METHOD: CBF was measured in 23 healthy comparison subjects and 23 patients with schizophrenia during four conditions: resting baseline, motor baseline, word encoding, and word recognition. The motor baseline was used as a reference that was subtracted from encoding and recognition conditions by using statistical parametric mapping. RESULTS: Patients' performance was similar to that of healthy comparison subjects. During word encoding, patients showed reduced activation of left prefrontal and superior temporal regions. Reduced left prefrontal activation in patients was also seen during word recognition, and additional differences were found in the left anterior cingulate, left mesial temporal lobe, and right thalamus. Although patients' performance was similar to that of healthy comparison subjects, left inferior prefrontal activation was associated with better performance only in the comparison subjects. CONCLUSIONS: Left frontotemporal activation during episodic encoding and retrieval, which is associated with better recognition in healthy people, is disrupted in schizophrenia despite relatively intact recognition performance and right prefrontal function. This may reflect impaired strategic use of semantic information to organize encoding and facilitate retrieval.
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Lóbulo Frontal/fisiopatología , Esquizofrenia/fisiopatología , Lóbulo Temporal/fisiopatología , Tomografía Computarizada de Emisión/estadística & datos numéricos , Aprendizaje Verbal/fisiología , Adulto , Femenino , Lóbulo Frontal/irrigación sanguínea , Lóbulo Frontal/diagnóstico por imagen , Humanos , Masculino , Memoria/fisiología , Pruebas Neuropsicológicas/estadística & datos numéricos , Radioisótopos de Oxígeno , Desempeño Psicomotor/fisiología , Flujo Sanguíneo Regional , Esquizofrenia/diagnóstico , Esquizofrenia/diagnóstico por imagen , Lóbulo Temporal/irrigación sanguínea , Lóbulo Temporal/diagnóstico por imagen , AguaRESUMEN
OBJECTIVE: The authors present a 30-year-old pregnant and previously healthy woman with sudden onset of agitation, delusions, and frontal lobe dementia. Serum and cerebrospinal fluid findings revealed the presence of untreated syphilis. BACKGROUND: Neurosyphilis can present a variety of behavioral symptoms, including mania, depression, and psychosis. METHOD: A neuropsychiatric and neurologic workup was performed before the start of antibiotic treatment. The status of the patient was observed throughout the course of her hospital stay for 7 months. Additionally, a neuropsychological evaluation was administered before treatment, and 2 weeks and 4 months after treatment. RESULTS: After treatment of neurosyphilis, steady improvements were noted in psychotic and cognitive symptoms. By the end of 7 months, and after discontinuation of antipsychotic medication, no psychiatric symptoms were evident. CONCLUSIONS: This case emphasizes the importance of considering neurosyphilis in the differential diagnosis of acute psychosis. Furthermore, this case shows the dramatic improvement in psychiatric symptoms and cognitive dysfunction in response to the treatment of neurosyphilis.
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Neurosífilis/diagnóstico , Trastornos Psicóticos/diagnóstico , Esquizofrenia/diagnóstico , Enfermedad Aguda , Adulto , Diagnóstico Diferencial , Femenino , Lóbulo Frontal/fisiopatología , Haloperidol/uso terapéutico , Humanos , Neurosífilis/líquido cefalorraquídeo , Neurosífilis/complicaciones , Neurosífilis/tratamiento farmacológico , Penicilina G/uso terapéutico , Embarazo , Complicaciones Infecciosas del Embarazo , Trastornos Psicóticos/tratamiento farmacológico , Trastornos Psicóticos/etiología , Esquizofrenia/tratamiento farmacológico , Esquizofrenia/etiología , Resultado del TratamientoRESUMEN
OBJECTIVE: To determine clinical and diagnostic variables that predict the development of mania after temporal lobectomy for treatment of refractory epilepsy. METHODS: From a large surgical database, 16 patients with new-onset mania after temporal lobectomy were identified. Mania patients were frequency matched for age, gender, and laterality of surgery to 16 temporal lobectomy patients with no postoperative mood disorder. These groups were compared on pre- and postoperative clinical and diagnostic data with each other and with 30 patients with depression after temporal lobectomy. Posthoc analyses compared mania and depression groups with the general surgical database matched for gender and laterality of surgery. RESULTS: Preoperative evaluations in postoperative mania patients, in particular EEG, were more likely to yield findings of brain dysfunction localizing to the hemisphere contralateral to temporal lobectomy. Right temporal lobectomy was more common in the postoperative mania group. Duration of manic episodes was usually transient, and all but one case remitted within 1 year after onset. In comparison with the control group, mania and depression groups had a higher likelihood for preoperative generalized tonic-clonic seizures and lack of seizure freedom following surgery. CONCLUSIONS: A limitation of this study was the relatively small number of patients. Despite this, clinical features that distinguish patients at risk for postoperative mania from those with depression and those with no psychiatric illness include bihemispheric abnormalities, in particular bitemporal EEG activity, and right temporal lobectomy.
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Lobectomía Temporal Anterior/efectos adversos , Trastorno Bipolar/etiología , Adulto , Trastorno Bipolar/tratamiento farmacológico , Trastorno Bipolar/fisiopatología , Estudios de Cohortes , Depresión/tratamiento farmacológico , Depresión/etiología , Dominancia Cerebral , Electroencefalografía , Epilepsia del Lóbulo Temporal/psicología , Epilepsia del Lóbulo Temporal/cirugía , Epilepsia Tónico-Clónica/psicología , Epilepsia Tónico-Clónica/cirugía , Femenino , Estudios de Seguimiento , Humanos , Masculino , Psicotrópicos/uso terapéutico , Remisión Espontánea , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
PURPOSE: Epilepsy has been associated with increased occurrence of behavioral disorders. Auras reflect abnormal stimulation of brain areas in close proximity to regions from which clinical seizures originate. The purpose of our study was to investigate whether fear auras are associated with a higher rate of mood and anxiety disorders before and 1 year after temporal lobectomy. METHODS: Twenty-two patients with fear auras were compared with matched groups with other auras and no auras. Neurologic and neuropsychological evaluations before, 1-2 months after, and 1 year after temporal lobectomy were reviewed for mood and anxiety disorders and psychotropic medication treatment. A logistic regression model examined effects of patient group and psychiatric status on postoperative psychiatric status. RESULTS: The majority of patients in the three groups experienced mood and anxiety disorders before surgery. Mood and anxiety disorders declined in the control, but not in the fear aura group after surgery. Presence of auras at 1 year after surgery was not related to psychiatric outcome. Postoperative mood and anxiety disorders were more common in patients with persistence of seizures and in those in the fear group who were seizure free. The minority of patients in all groups underwent psychotropic treatment before surgery, but the majority with fear auras underwent treatment after surgery. CONCLUSIONS: Postoperative mood and anxiety disorders were more common in fear aura patients after temporal lobectomy, in particular, if seizure free. Possible mechanisms include the role of the amygdala in fear conditioning, the concepts of forced normalization, and kindling.
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Trastornos de Ansiedad/epidemiología , Epilepsia del Lóbulo Temporal/cirugía , Miedo/psicología , Trastornos del Humor/epidemiología , Complicaciones Posoperatorias/epidemiología , Lóbulo Temporal/cirugía , Adulto , Amígdala del Cerebelo/fisiología , Anticonvulsivantes/uso terapéutico , Trastornos de Ansiedad/diagnóstico , Estudios de Cohortes , Condicionamiento Psicológico/fisiología , Trastorno Depresivo/diagnóstico , Trastorno Depresivo/epidemiología , Electroencefalografía/estadística & datos numéricos , Epilepsia del Lóbulo Temporal/diagnóstico , Epilepsia del Lóbulo Temporal/psicología , Miedo/fisiología , Femenino , Humanos , Excitación Neurológica/fisiología , Masculino , Modelos Biológicos , Trastornos del Humor/diagnóstico , Pruebas Neuropsicológicas/estadística & datos numéricos , Trastorno de Pánico/diagnóstico , Trastorno de Pánico/epidemiología , Complicaciones Posoperatorias/diagnóstico , Prevalencia , Análisis de RegresiónRESUMEN
OBJECTIVE: We postulated that disruption of callosal pathways as occurs in Marchiafava-Bignami disease (MBD) is associated with marked impairment in brain functioning as measured by cognitive assessment and neuroimaging. BACKGROUND: MBD is considered to be a rare and severe complication of chronic alcoholism. It is characterized by necrosis and subsequent atrophy of the corpus callosum, which is the major brain structure connecting corresponding areas of both hemispheres. METHODS: We review the existing literature on MBD with respect to conceptualization, theories of pathogenesis, forms of the disease, and neuroimaging and neuropsychological findings. We then present the case of a middle-aged man with MBD who underwent extensive clinical, neuropsychological, and neuroimaging studies. RESULTS: Neuropsychological evaluation revealed a pattern of severe global dementia. Magnetic resonance imaging showed moderate atrophy of anterior callosal regions and severe atrophy of posterior callosal regions in the setting of cortical and subcortical atrophy. Resting metabolism positron emission tomography revealed decreased glucose metabolism most pronounced in subcortical and mesial frontal regions. The differential diagnosis, function of the corpus callosum, and potential limitations of our case study are discussed. CONCLUSIONS: On account of the history, clinical presentation, and results of magnetic resonance imaging of the brain, we diagnosed our patient with chronic MBD.
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Trastornos Relacionados con Alcohol/fisiopatología , Cuerpo Calloso/efectos de los fármacos , Imagen por Resonancia Magnética , Pruebas Neuropsicológicas , Tomografía Computarizada de Emisión , Trastornos Relacionados con Alcohol/diagnóstico , Atrofia , Cuerpo Calloso/patología , Cuerpo Calloso/fisiopatología , Etanol/efectos adversos , Humanos , Masculino , Persona de Mediana Edad , Necrosis , SíndromeRESUMEN
Attention Deficit Disorder (ADD) has been increasingly recognized as extending into adulthood, affecting occupational, interpersonal, and psychological functioning. The Minnesota Multiphasic Personality Inventory (MMPI) and its revision (MMPI-2) have been widely used in the assessment of patients with psychiatric disorders, but few studies have attempted to characterize the personality profiles of individuals with ADD and none have used the MMPI-2. Thirty-three patients with ADD and 33 schizophrenia patients were compared to 46 healthy control subjects on the MMPI-2 validity, clinical and Harris-Lingoes scales. With the exception of significantly lower scores for general affective distress (F), thought disorder (Sc), and paranoia (Pa), ADD subjects demonstrated remarkably similar profiles to those seen in the schizophrenia group. Significant differences between the three groups were found on a majority of the clinical scales, with ADD subjects showing similar profile elevations as schizophrenic subjects on both clinical- and sub-scales. These results were consistent with previous research using the original MMPI in adults with ADD, and confirm that examination of MMPI-2 profiles may be a useful diagnostic aid for this disorder.
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Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , MMPI , Esquizofrenia/diagnóstico , Adulto , Factores de Edad , Trastorno de Personalidad Antisocial/diagnóstico , Trastorno Bipolar/diagnóstico , Trastorno Depresivo/diagnóstico , Femenino , Humanos , Histeria/diagnóstico , Masculino , Trastornos Paranoides/diagnóstico , Psicología del EsquizofrénicoRESUMEN
PURPOSE: To characterize features influencing marital status in a group of patients with refractory epilepsy before and after epilepsy surgery and to assess the effect of seizure control on marital status after epilepsy surgery. METHODS: We analyzed marital status in 430 epilepsy surgery patients and in a subset with temporal lobe epilepsy. Marital status was assessed in relation to gender and age of epilepsy onset and compared with marital rates for the U.S. population. Patients who had > or =4 years of postsurgical follow-up were examined for change in marital status after surgery. Those patients who changed marital status were then evaluated for change in employment. RESULTS: Marital rates were lower than expected in men. Men with onset of epilepsy by age 11 years were less likely to be married than men whose seizures began after age 11 or women whose seizures began at any age. Men and women with temporal lobe epilepsy had higher marriage rates than those with extratemporal lobe epilepsy. More than 4 years after epilepsy surgery (n = 190), patients who had no recurrent seizures were more likely to change marital status (28 of 124, 23%), than those who had recurrent seizures (five of 66, 8%). Seizure-free women were more likely to divorce (n = 9) than were seizure-free men (n = 1). Most men who married were employed (77%), whereas women who divorced were usually unemployed (67%). CONCLUSIONS: The age at which seizures begin influences later marital status in men, who have reduced marriage rates. The abolition of seizures by epilepsy surgery creates new opportunities for changing social relationships. Location of the epileptic focus may influence psychosocial function.
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Epilepsia/cirugía , Estado Civil , Adulto , Distribución por Edad , Edad de Inicio , Epilepsia/epidemiología , Epilepsia del Lóbulo Temporal/epidemiología , Epilepsia del Lóbulo Temporal/cirugía , Femenino , Humanos , Masculino , Estado Civil/estadística & datos numéricos , Recurrencia , Factores Sexuales , Estados Unidos/epidemiologíaRESUMEN
BACKGROUND: Schizophrenia and mesial temporal lobe epilepsy (TLE) represent two common brain disorders that share dysfunction of temporo-limbic neural substrates. OBJECTIVE: We evaluated whether patients with schizophrenia exhibited olfactory performance more similar to right or left temporal lobe epilepsy patients. METHODS: Odor identification ability and detection threshold sensitivity were measured in 40 patients with schizophrenia, 14 patients with right- and 18 patients with left-temporal lobe epilepsy (TLE) patients, and 25 healthy controls. Odor identification was assessed with the University of Pennsylvania Smell Identification Test (UPSIT) and odor detection threshold sensitivity with a single-staircase procedure using the stimulant phenyl ethyl alcohol (PEA). RESULTS: Relative to controls, only patients with schizophrenia and right TLE exhibited significant impairment in UPSIT performance. Left TLE patients and controls performed comparably on the UPSIT. Detection threshold sensitivity to PEA did not differ significantly among the four groups. CONCLUSIONS: These data suggest a greater reliance of olfactory processing on right hemisphere structures and are also consistent with recent neuroimaging studies that have implicated aberrant processing of olfactory information in right hemispheric brain regions in schizophrenia.