RESUMEN
BACKGROUND: Vitamin B12 (cobalamin, cbl) deficiency in children is rare and may occurs in exclusively breast fed infants of mothers on vegetarian or vegan diet with lack of appropriate supplementation. The clinical manifestation of vitamin B12 deficiency include neurological disorders, megaloblastic anemia and failure to thrive. Routine and commonly used laboratory tests such as cell blood count (CBC) or serum vitamin B12 level are sufficient for appropriate diagnosis. Typical therapy is based on intramuscular cobalamin injections. Early diagnosis and early onset of treatment are crucial factors for long-term prognosis of patients as the duration of deficiency may be correlated with the development of long lasting changes in the nervous system. The purpose of this article is to present influence of maternal vitamin B12 deficiency as a cause of infant psychomotor retardation. CASE PRESENTATION: We report the case of a 7 months old girl whose parents sought medical advice due to pathological somnolence and developmental regression of their daughter with onset approximately 2 months prior to the visit. Following several diagnostic tests it was determined that the infant's symptoms were due to vitamin B12 deficiency which was secondary to the mother's latent Addison-Biermer disease. Apart from neurological symptoms the infant also showed megaloblastic anemia which is typical to cobalamin deficiencies. Intramuscular vitamin B12 supplementation resulted in instant improvement of the patient's general condition and blood morphology. Unfortunately, psychological examination indicated long-term psychomotor retardation due to delayed diagnosis of B12 deficiency. CONCLUSIONS: Vitamin B12 levels should be considered during differential diagnosis of neurological symptoms in exclusively breast-fed infants especially if they co-exist with megaloblastic anemia and psychomotor retardation.
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Lactancia Materna , Trastornos Psicomotores/diagnóstico , Trastornos Psicomotores/etiología , Deficiencia de Vitamina B 12/complicaciones , Deficiencia de Vitamina B 12/psicología , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/etiología , Anemia Megaloblástica/terapia , Femenino , Humanos , Lactante , Trastornos Psicomotores/terapiaRESUMEN
INTRODUCTION: A deficiency of the enzyme guanosine triphosphate cyclohydrolase I (GTPCH 1) causes a reduction in the synthesis of tetrahydrobiopterin (BH4), a cofactor that is essential in the synthesis of tyrosine, dopamine and serotonin. It is an infrequent disease that produces psychomotor delay or regression and movement disorders, although treatment can improve or even correct the clinical signs and symptoms. CASE REPORT: We report the case of a girl with autosomal recessive GTPCH deficiency, who was diagnosed at 14 months by means of an analysis of the cerebrospinal fluid with pterin, HVA and 5-HIAA deficiency, and positive phenylalanine overload test and genetic study. The clinical features began at the age of 5 months with intermittent upper limb and brain tremors, both at rest and intentional, that disappeared after a month. Psychomotor development was normal, mild axial hypotonia being found in the examination while the complementary tests that were performed were normal. The patient later presented psychomotor regression with loss of head control, diminished active movements, difficulty in bimanual manipulation, hypomimia and severe global hypotonia, which was the reason for the study of a progressive encephalopathy. Following the diagnosis of GTPCH deficiency, replacement therapy was established with levodopa/carbidopa, OH tryptophan and BH4, with excellent progress made in motor and cognitive functioning. Today, the patient is 5 years old, has an adequate psychomotor development for her age, is in the third year of preschool education and has caught up with the level of the rest of her classmates. CONCLUSION: In this case attention must be drawn to the extremely satisfactory motor and cognitive improvement of the patient after starting replacement therapy, as in many cases the cognitive level is usually affected on a permanent basis.
TITLE: Deficit de GTPCH 1 autosomico recesivo: importancia del analisis de los neurotransmisores en el liquido cefalorraquideo.Introduccion. El deficit de la enzima trifosfato de guanosina ciclohidrolasa 1 (GTPCH 1) origina una disminucion de la sintesis de la tetrahidrobiopterina (BH4), cofactor indispensable en la sintesis de la tirosina, la dopamina y la serotonina. Es una enfermedad poco frecuente que produce un retraso o regresion psicomotora y trastornos del movimiento, y en la que el tratamiento puede mejorar o incluso corregir la clinica. Caso clinico. Niña afecta de deficit de GTPCH con herencia autosomica recesiva, diagnosticada a los 14 meses con estudio del liquido cefalorraquideo con deficit de pterinas, HVA y 5-HIAA, test de sobrecarga de fenilalanina y estudio genetico positivos. La clinica comenzo a los 5 meses con temblor cefalico y de las extremidades superiores, en reposo e intencional, intermitente, que desaparecio en un mes. El desarrollo psicomotor era normal, destacaba una hipotonia axial leve en la exploracion y las pruebas complementarias realizadas fueron normales. Posteriormente presento regresion psicomotora con perdida del sosten cefalico, disminucion de los movimientos activos, dificultad para la manipulacion bimanual, hipomimia e hipotonia global grave, lo que motivo el estudio de una encefalopatia progresiva. Tras el diagnostico de deficit de GTPCH, inicio tratamiento sustitutivo con levodopa/carbidopa, OH triptofano y BH4, con muy buena evolucion tanto motora como cognitiva. Actualmente, la paciente tiene 5 años, presenta un desarrollo psicomotor adecuado a su edad, cursa tercer curso de educacion infantil y ha alcanzado el nivel de su clase. Conclusion. Hay que destacar en este caso la mejoria tan satisfactoria, tanto motora como cognitiva, tras iniciar el tratamiento sustitutivo, ya que el nivel cognitivo suele quedar afectado en muchos casos.
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Biopterinas/biosíntesis , GTP Ciclohidrolasa/deficiencia , Neurotransmisores/líquido cefalorraquídeo , Trastornos Psicomotores/diagnóstico , Femenino , Humanos , Lactante , FenilalaninaRESUMEN
BACKGROUND: Sibutramine, an oral anorexiant, is often found as an adulterant in various counterfeit herbal slimming products and dietary supplements. The use of sibutramine has been associated with various cardiovascular and psychiatric symptoms. Here, we report a rare case of psychomotor disturbances, in a patient with no previously diagnosed movement disorders. CASE: A 26-year-old woman developed abnormal behavior, visual hallucinations, hyperkinesia, facial flushing, and dizziness after taking a counterfeit dietary supplement which contained undeclared sibutramine and phenolphtalein. Laboratory work-up revealed microcytic anemia; leucopenia; and elevated erythrocyte sedimentation rate, C-reactive protein levels, and antistreptolysin O titer, but rheumatic fever was ruled out. After a neurologic examination, involuntary movements were classified as chorea. The psychiatric examination result was unremarkable. The patient responded well to haloperidol therapy. Body temperature, erythrocyte sedimentation rate, and C-reactive protein levels eventually normalized. The patient was discharged. CONCLUSIONS: This is the first report we are aware of about a transient, chorea-like psychomotor movement disorder associated with sibutramine. Although the causal relationship between sibutramine and the patient's symptoms cannot be proven definitely, the temporal dimension does suggest sibutramine initiation and termination led to onset and resolution of symptoms, respectively. Furthermore, because of the widespread availability of adulterated food supplements containing sibutramine, physicians should be more aware of their implications for patients.
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Antidepresivos/efectos adversos , Ciclobutanos/efectos adversos , Trastornos Psicomotores/inducido químicamente , Adulto , Depresión/tratamiento farmacológico , Femenino , Humanos , Trastornos Psicomotores/diagnósticoRESUMEN
Introducción: Las terapias ecuestres constituyen un método de intervención para usuarios susceptibles de presentar limitaciones en el ámbito psicomotor que se lleva practicando varias décadas en todo el mundo. Objetivos: Realizar un estudio de pacientes beneficiarios de esta terapia en los logros obtenidos en la función motora gruesa en relación con el resto de las habilidades psicomotrices y cómo esta mejora influye en el estado general y en su calidad de vida. Material y métodos: Se incluyó a 11 niños (8,82 ± 3,89; 6 niños, 5 niñas) con retraso psicomotor. Las variables principales de estudio fueron la función motora gruesa (GMFM-88) y la percepción de calidad de vida (Pediatric Quality of Life Inventory; PedsQL). Se realizaron 3 mediciones, antes y después de un periodo de inactividad, y 2 meses después de la segunda valoración, tras un periodo continuado de tratamiento. Resultados: Se observó una diferencia significativa entre los resultados globales de la GMFM-88 entre las pruebas inicial-final e intermedia-final. Respecto a la escala de calidad de vida PedsQL, no se han observado resultados estadísticamente significativos. Conclusiones: A lo largo de la intervención, se han observado cambios evidentes en el control motor, por lo que parece que la terapia ecuestre puede ser una terapia adecuada para la intervención del retraso psicomotor
Introduction: Equine therapy, an intervention method that has been practiced for decades around the world, is used to treat patients susceptible to psychomotor delays. Objectives: We examine development of gross motor function compared to other psychomotor skills in patients undergoing this therapy, and analyse how this improvement affects general health status and quality of life. Material and methods: The study includes 11 children with delayed psychomotor development (aged 8.82 ± 3.89; 6 boys, 5 girls). The main study variables were gross motor function (GMFM-88) and perceived quality of life (Pediatric Quality of Life Inventory, PedsQL). Three measurements were performed: before and after a period of inactivity, and once again 2 months after the second measurement, following completion of a sustained period of therapy. Results: We observed significant differences in overall results on the GMFM-88 between the initial and final tests and between the intermediate and final tests. Regarding the PedsQL quality of life scale, no statistically significant results were recorded. Conclusions: Noticeable changes in motor control were recorded throughout the course of the intervention, which suggests that equine therapy may be appropriate treatment in cases of delayed psychomotor development
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Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Desarrollo Infantil , Discapacidades del Desarrollo/terapia , Trastornos Psicomotores/diagnóstico , Terapía Asistida por Caballos/tendencias , Equilibrio Postural , Locomoción , Marcha , Parálisis Cerebral , Síndrome de Dandy-Walker , Síndrome de Down , Calidad de Vida , Desempeño Psicomotor , Resultado del TratamientoRESUMEN
BACKGROUND: Children with severe psychomotor impairment (SPMI) often experience sleep disturbances that severely distress both the child and his or her parents. Validated questionnaires for the assessment of parents' distress related to their child's sleep disturbances are lacking. METHODS: We developed and validated a new questionnaire, the HOST (holistic assessment of sleep and daily troubles in parents of children with SPMI) to assess the effect of the sleep disturbances in children with SPMI on their parents. The questionnaire was developed based on published data and expert opinion, and it was refined via direct consultation with affected parents. Its psychometric characteristics were assessed in a sample of parents of 214 children with SPMI. It was retested using a random subsample of the participants. RESULTS: Explorative factor analysis revealed that the HOST was composed of four scales. Fit indices, item analysis, and convergent validity (coherence with preexisting instruments of sleep disturbances and health status) were adequate. Retest analysis (n=62) revealed high stability of the HOST questionnaire and adequate replication validity. CONCLUSION: Sleep-related difficulties significantly impact the sociomedical characteristics of the parents of children with complex neurologic diseases. Typically, parents are severely affected in various aspects of daily life (i.e., medical health, social life, professional life). The HOST proved to be a valid, reliable and economical assessment tool of sleep-related difficulties in parents and relatives of children with SPMI. The HOST is capable of identifying individuals and specific areas requiring intervention.
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Actividades Cotidianas/psicología , Trastornos Psicomotores/diagnóstico , Trastornos del Sueño-Vigilia/diagnóstico , Adolescente , Adulto , Cuidadores/psicología , Niño , Preescolar , Estudios Transversales , Análisis Factorial , Femenino , Encuestas Epidemiológicas , Humanos , Lactante , Recién Nacido , Masculino , Padres/psicología , Psicometría , Trastornos Psicomotores/complicaciones , Trastornos Psicomotores/psicología , Trastornos del Sueño-Vigilia/etiología , Trastornos del Sueño-Vigilia/psicología , Encuestas y Cuestionarios , Adulto JovenRESUMEN
BACKGROUND: Neurodevelopment outcomes of children conceived by Assisted Reproductive Technology (ART)have been the subject of much recent attention. To date there are no reports of neurodevelopmental performance before birth in this group. AIMS: To compare habituation (a measure of brain function) in fetuses conceived by assisted reproduction techniques (ART) with naturally conceived (NC) fetuses. STUDY DESIGN: Case control study. SUBJECTS: Women with singleton pregnancies matched for maternal age, parity and smoking were recruited in 2 groups: ART (n=20) and NC (n=20). OUTCOME MEASURES: Sound stimuli (250 Hz, 110 dB) at 10 second intervals lasting 2 s were administered to the fetus. The end point was habituation (cessation of movement for five consecutive stimuli) or a maximum of 30 stimuli. Responses of the fetus were observed with ultrasound at 28, 32 and 36 weeks' gestation, video-recorded and anonymised for analysis. RESULTS: At 28 weeks' gestation significantly more ART fetuses responded to sound of 250 Hz, 110 dB (p=0.02) but this difference did not persist at 32 and 36 weeks'. There was a significant increase in nonresponders as gestation advanced in the ART group. There was no difference in habituation or mean number of trials to habituate at all three gestations. CONCLUSIONS: ART fetuses demonstrated no differences in habituation suggesting that there is no neurodevelopment delay. However, a decrease in response to sound as gestation advances might be a harbinger for poor perinatal outcomes and needs exploration.
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Feto/fisiología , Habituación Psicofisiológica/fisiología , Trastornos Psicomotores/etiología , Técnicas Reproductivas Asistidas/efectos adversos , Estimulación Acústica/métodos , Adulto , Estudios de Casos y Controles , Sistema Nervioso Central/embriología , Sistema Nervioso Central/fisiopatología , Femenino , Monitoreo Fetal , Movimiento Fetal/fisiología , Humanos , Masculino , Embarazo , Trastornos Psicomotores/diagnóstico , Tiempo de Reacción , Ultrasonografía Prenatal , Grabación en VideoRESUMEN
AIM: There is a lack of investigation into the functional developmental profile of children with Down syndrome. On the basis of current international health paradigms, the purpose of this study was to assess the developmental profile of these children. METHOD: Sixty children (33 males, 27 females) with Down syndrome (age range 6-16y; mean age 9y 3mo, SD 28.8mo), who had received standard, holistic, early intervention, were assessed. Of these, 42 (70%) had congenital anomalies, 12 had severe congenital heart defects. Participants were assessed on measures of cognitive function (Beery-Buktenica Developmental Test of Visual-Motor Integration; Stanford-Binet Intelligence Scale) and participation (Vineland Adaptive Behaviour Scales). RESULTS: No difference was found on any measure on the basis of severity of congenital anomaly. Results showed improvements in age-related body function and correlations between specific body functions and participation. No decline in IQ was found with age, and significant correlations between IQ and all other measures were noted. Although sex differences were found in the body functions of short-term memory and motor function, no difference in measures of activity performance and participation was found. INTERPRETATION: Our findings emphasize the need for paediatric Down syndrome intervention to encourage improved body functions while emphasizing the acquisition of functional skills that enable enhanced participation in age-appropriate activities.
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Trastornos del Conocimiento/diagnóstico , Síndrome de Down/diagnóstico , Intervención Educativa Precoz , Pruebas Neuropsicológicas/estadística & datos numéricos , Socialización , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/psicología , Anomalías Múltiples/rehabilitación , Actividades Cotidianas/psicología , Adolescente , Factores de Edad , Niño , Trastornos del Conocimiento/psicología , Trastornos del Conocimiento/rehabilitación , Terapia Combinada , Síndrome de Down/psicología , Síndrome de Down/rehabilitación , Femenino , Humanos , Inteligencia , Israel , Estudios Longitudinales , Masculino , Trastornos Psicomotores/diagnóstico , Trastornos Psicomotores/psicología , Factores Sexuales , Conducta SocialRESUMEN
OBJECTIVE: We have previously described patterns of neonatal brain injury that correlate with global cognitive and motor outcomes. We now examine, in survivors of neonatal encephalopathy (presumed secondary to hypoxia-ischemia) without functional motor deficits, whether the severity and neuroanatomical involvement on neonatal MRI are associated with domain-specific cognitive outcomes, verbal and performance IQ, at 4 years of age. METHODS: In this prospective study, neonatal MRIs of 81 term infants with neonatal encephalopathy were scored for degree of injury in 2 common patterns: watershed distribution and basal ganglia distribution. Follow-up evaluation at 4 years of age by examiners blinded to clinical history and MRIs included a 5-point neuromotor score and the Wechsler Preschool and Primary Scale of Intelligence-Revised. In 64 subjects with no functional motor impairment, test of trend was used to examine the association of ordered watershed-distribution and basal ganglia-distribution MRI scores with mean verbal and performance IQ. RESULTS: Lower verbal and performance IQs were seen with increasing degree of injury on both watershed-distribution and basal ganglia-distribution scales in univariate analyses. When each MRI pattern score was adjusted for the other, only the association of decreasing verbal IQ with increasing watershed-distribution injury remained significant. A suggestion of decreasing verbal IQ with increasing basal ganglia-distribution injury was also seen in the multivariate model, whereas no association was seen between performance IQ and severity of injury in either MRI pattern. CONCLUSIONS: In survivors of neonatal encephalopathy without functional motor deficits at 4 years of age, an increasing severity of watershed-distribution injury is associated with more impaired language-related abilities.
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Asfixia Neonatal/diagnóstico , Daño Encefálico Crónico/diagnóstico , Trastornos del Conocimiento/diagnóstico , Discapacidades del Desarrollo/diagnóstico , Inteligencia/fisiología , Imagen por Resonancia Magnética , Anciano , Ganglios Basales/patología , Enfermedades de los Ganglios Basales/diagnóstico , Corteza Cerebral/patología , Preescolar , Estudios de Cohortes , Cuerpo Estriado/patología , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Trastornos del Desarrollo del Lenguaje/diagnóstico , Masculino , Estudios Prospectivos , Trastornos Psicomotores/diagnóstico , Tálamo/patología , Escalas de WechslerRESUMEN
This study examined social problem-solving performance in high-functioning schizophrenia (n=26) and its relation to neurocognition. Ten healthy controls were used as a comparison group. Social problem-solving was assessed with the Assessment of Interpersonal Problem Solving Skills (AIPSS) method. The schizophrenia group was outperformed by healthy controls on all AIPSS measures, reaching statistical significance for sending skills. Exploration of the internal relationship between different aspects of social problem-solving showed that identification of an interpersonal problem (a receiving skill) was not correlated with formulating solutions to the problem (processing skills) or successfully role-playing solutions (interpersonal sending skills). Non-verbal performance in the role-play (an interpersonal sending skill) was not significantly correlated with identification of an interpersonal problem or the generation of solutions. This suggests a dissociation of social problem-solving processes. Social problem-solving was significantly associated with psychomotor speed, verbal learning, semantic fluency and cognitive flexibility. Clinical implications are that remediation of social problem-solving skills should focus on role-playing (nonverbal) interpersonal behaviors, rather than on verbally analyzing an interpersonal problem and clarifying alternative solutions.
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Relaciones Interpersonales , Solución de Problemas , Desempeño de Papel , Esquizofrenia/diagnóstico , Conducta Social , Adulto , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/epidemiología , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Trastornos Psicomotores/diagnóstico , Trastornos Psicomotores/epidemiología , Esquizofrenia/epidemiología , Adulto JovenRESUMEN
This study explores associations between language ability and hand preference in children with Down syndrome. Compared to typically developing children of the same age, children with Down syndrome showed weaker hand preference, were less consistent in the hand they used and also less willing to reach to extreme positions in contralateral space. Within the group of children with Down syndrome, those who showed a stronger or more consistent hand preference had better language and memory skills. This association could not be explained by differences in non-verbal cognitive ability or hearing loss. These findings are discussed within the theory of neurolinguistic development proposed by Locke [Locke (1997). Brain & Language, 58, 265-326].
Asunto(s)
Síndrome de Down/psicología , Lateralidad Funcional , Trastornos del Desarrollo del Lenguaje/psicología , Trastornos Psicomotores/psicología , Adolescente , Trastornos de la Articulación/diagnóstico , Trastornos de la Articulación/psicología , Umbral Auditivo , Niño , Conducta de Elección , Síndrome de Down/diagnóstico , Femenino , Humanos , Imaginación , Trastornos del Desarrollo del Lenguaje/diagnóstico , Masculino , Destreza Motora , Programación Neurolingüística , Orientación , Trastornos Psicomotores/diagnóstico , Desempeño Psicomotor , Valores de Referencia , Semántica , Estadística como Asunto , Vocabulario , Escalas de WechslerRESUMEN
OBJECTIVES: Few studies have examined acoustic startle sensorimotor gating in bipolar disorder (BPD) despite the fact that patients with BPD have exhibited inhibitory dysfunctions on a variety of early information processing tasks. The present study aimed to expand the current literature through the investigation of electromyographic (EMG) measures of acoustic startle prepulse inhibition (PPI) in manic and mixed episode BPD. METHODS: Fourteen manic and 21 mixed episode BPD patients were compared to 32 healthy controls on acoustic startle measures of PPI using a 120-ms lead interval. RESULTS: Prepulse inhibition did not significantly differ across diagnostic groups (manic, mixed, control), and the presence of psychosis in the patient sample was not significantly related to PPI levels. With respect to startle response characteristics, patients in the mixed phase of the disorder showed prolonged prepulsed startle latency and attenuated responses to both probe-alone and prepulsed probes, though no differences in startle habituation were found across diagnostic groups. CONCLUSIONS: Although PPI deficits were not observed in either BPD sub-group, attenuated probe-alone and prepulsed startle magnitudes and reduced prepulse-induced latency facilitation in the mixed episode group is consistent with evidence that the mixed phase of BPD is associated with a more severe clinical outlook than other stages of the disorder. The absence of attenuated PPI in the patient sample may be due to the low incidence of psychosis in the BPD groups, though further studies are required to systematically assess the effects of symptom factors and clinical phase on sensorimotor gating in BPD.
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Trastorno Bipolar/epidemiología , Trastorno Depresivo/epidemiología , Trastornos Psicomotores/epidemiología , Estimulación Acústica , Adulto , Trastorno Bipolar/diagnóstico , Trastorno Bipolar/psicología , Parpadeo/fisiología , Trastorno Depresivo/diagnóstico , Trastorno Depresivo/psicología , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Electromiografía/instrumentación , Femenino , Humanos , Inhibición Psicológica , Masculino , Músculo Esquelético/inervación , Prevalencia , Trastornos Psicomotores/diagnóstico , Tiempo de Reacción , Reflejo de Sobresalto , Índice de Severidad de la Enfermedad , Fumar/epidemiología , Trastornos Relacionados con Sustancias/epidemiologíaRESUMEN
A decreased striatal presynaptic dopaminergic function has been reported in depressed patients with affective flattening and psychomotor retardation, using (18)F-fluorodopa positron emission tomography and regions-of-interest. The present study aimed to investigate regional ;[(18)F]dopa uptake in mesolimbic and mesocortical dopaminergic projections with the hypothesis that there should be a decrease in mesolimbic [(18)F]dopa uptake associated with affective flattening and psychomotor retardation. [(18)F]Dopa-positron emission tomography and anatomical magnetic resonance imaging datasets from 12 screened depressed patients with either marked affective flattening and psychomotor retardation (n=6) or with marked impulsivity (n=6), and from eight healthy subjects, were analyzed using a voxel-based approach. Regional differences in [(18)F]dopa uptake rate constant (K(i)) values between the healthy group and the two depression subgroups were compared using both statistical parametric mapping and cluster-based regions-of-interest. Patients with affective flattening and psychomotor retardation had [(18)F]dopa K(i) decreases in the left caudate, bilateral putamen and nucleus accumbens, left parahippocampus and dorsal brainstem. Impulsive depressives had [(18)F]dopa K(i) decreases in the anterior cingulate and hypothalamus, and an increase in the right parahippocampal gyrus. These findings support distinct regional dysfunctions of monoamines depending on the depressive symptomatology.
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Afecto , Trastorno Depresivo Mayor/epidemiología , Trastorno Depresivo Mayor/metabolismo , Trastornos Disruptivos, del Control de Impulso y de la Conducta/epidemiología , Trastornos Disruptivos, del Control de Impulso y de la Conducta/metabolismo , Fluorodesoxiglucosa F18/farmacocinética , Tomografía de Emisión de Positrones , Radiofármacos/farmacocinética , Adulto , Monoaminas Biogénicas/fisiología , Tronco Encefálico/metabolismo , Tronco Encefálico/patología , Núcleo Caudado/metabolismo , Núcleo Caudado/patología , Ciclohexanoles/uso terapéutico , Trastorno Depresivo Mayor/tratamiento farmacológico , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Femenino , Fluoxetina/uso terapéutico , Giro del Cíngulo/metabolismo , Giro del Cíngulo/patología , Hipocampo/metabolismo , Hipocampo/patología , Humanos , Hipotálamo/metabolismo , Hipotálamo/patología , Imagen por Resonancia Magnética , Masculino , Núcleo Accumbens/metabolismo , Núcleo Accumbens/patología , Trastornos Psicomotores/diagnóstico , Trastornos Psicomotores/epidemiología , Putamen/metabolismo , Putamen/patología , Inhibidores Selectivos de la Recaptación de Serotonina/uso terapéutico , Índice de Severidad de la Enfermedad , Clorhidrato de VenlafaxinaRESUMEN
OBJECTIVE: To examine 3 cognitive screening tasks in older adults and determine which demographic, medical and lifestyle variables obtained 13-17 years previously predicted cognitive performance. DESIGN: Population-based longitudinal cohort study begun in 1981. SETTING: Leisure World Laguna Hills, a California retirement community. PARTICIPANTS: The cohort is predominantly white, well educated, upper-middle class; two thirds are women. Data from 1,744 participants (mean age 83 years, range 57-103) were analyzed. MEASUREMENTS: The baseline postal survey (1981-1985) asked demographic information, medical history, selected drug use and personal habits. The 1998 follow-up included 3 tasks to assess cognitive function: (1) clock drawing, (2) copying a box drawing and (3) narrative writing to describe a pictured scene. RESULTS: Within age groups, women tended to have lower scores than men on box copying, similar scores on clock drawing, but higher informational and complexity scores on narrative writing. Performance decreased with increasing age and was poorest in individuals > or = 90 years old. In addition to age, sex and education, significant predictors of performance were: exercise, body mass index and cataract surgery (clock); vitamin E supplements, daily aspirin use and gallbladder surgery (box); vitamin A supplements (narrative writing). Mean scores on all tasks were lower in those later identified as demented compared with nondemented but significantly different only for clock and box drawings. CONCLUSION: Performance on 3 cognitive tests showed significant effects of age, sex and education and was related to later dementia. Better performance by users of antioxidant supplements and aspirin suggests that these drugs may maintain cognitive function in later life.
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Envejecimiento/fisiología , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/epidemiología , Tamizaje Masivo/métodos , Narración , Pruebas Neuropsicológicas , Trastornos Psicomotores/diagnóstico , Trastornos Psicomotores/epidemiología , Conducta Verbal , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Masculino , Vigilancia de la Población/métodos , Índice de Severidad de la Enfermedad , Factores de TiempoRESUMEN
We assessed the vividness of mental imagery in schizophrenia patients in the context of psychopathology and cognitive abilities. A questionnaire on the vividness of mental imagery (Questionnaire Upon Mental Imagery [QMI]) and a hallucination scale were administered to 50 patients with paranoid schizophrenia. The related perceptual and cognitive skills, general intelligence level, and psychomotor speed were measured as covariates with a battery of performance tests. All measures were statistically compared to a group of 50 age- and sex-matched healthy controls. The schizophrenia group obtained higher values both for vividness of imagery and occurrence of hallucinations. These differences were independent of general intelligence and psychomotor speed and did not correlate with individual psychopathology. The correlation between the hallucination and imagery scales themselves was very low. These results suggest that patients with schizophrenia experience a significantly greater vividness of mental imagery than healthy controls, which does not seem to be an effect of other group differences or individual psychopathology (e.g., frequency of hallucinations). Vividness of mental imagery might thus prove to be an independent trait marker of schizophrenia.
Asunto(s)
Trastornos del Conocimiento/etiología , Imaginación , Esquizofrenia/complicaciones , Adulto , Trastornos del Conocimiento/diagnóstico , Femenino , Alucinaciones/diagnóstico , Alucinaciones/etiología , Humanos , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Psicometría , Trastornos Psicomotores/diagnóstico , Trastornos Psicomotores/etiología , Índice de Severidad de la Enfermedad , Encuestas y CuestionariosRESUMEN
El objetivo principal de nuestro estudio es identificar cuáles son las formas y los modelos de exploración (escalas validadas o no validadas) más usados por los fisioterapeutas de la muestra, que trabajan o que han trabajado a lo largo de su carrera profesional, con niños con edades comprendidas entre 0-5 años con alteraciones del desarrollo psicomotor y realizar una comparación de ambas submuestras. El tipo de estudios es descriptivo transversal y se realizó durante los meses de mayo a noviembre del año 2002. La muestra del estudio está compuesta a su vez por dos submuestras: 36 fisioterapeutas de la Región de Lisboa y Vale do Tejo (Portugal) y la otra por 23 fisioterapeutas de Extremadura (Cáceres y Badajoz) que tienen por actividad diaria el tratamiento de niños con alteraciones del desarrollo psicomotor, con edades comprendidas entre 0-5 años. El instrumento utilizado para la recogida de datos fue mediante un cuestionario, compuesto por preguntas cerradas, abiertas y de respuesta múltiple, usando para esta última una escala Likert. El 87 % de los fisioterapeutas de la submuestra extremeña conoce la escala de Bobath, un 78 % la Valoración Clínica Factorial de M. Le Métayer y un 83 % la valoración según Vojta. La utilización de estas escalas es de un 22 % Bobath, 26 % M. Le Métayer y 2 % Vojta. Por otro lado, el 92 % de los fisioterapeutas de la submuestra portuguesa conoce la escala de Bobath y la usan siempre como protocolo de valoración en un 50 %, siendo las escalas de M. Le Métayer y Vojta prácticamente desconocidas. En cuanto a las escalas con validez internacional, la más conocida pero nada utilizada entre los fisioterapeutas ambas submuestras es The Gross Motor Function Measure (GMFM) siendo otras escalas, como Posture and Fine Motor Assessment of Infants (PFMAI) y Pediatric Evaluation of Disability Inventory (PEDI), grandes desconocidas para los fisioterapeutas que conforman el las muestra del estudio
The primary objective of our study is to identify as they are the forms and the models of exploration (validated or not validated scales) more used by physiotherapists of our sample that works or that they have worked throughout their professional race, with children with ages between 0-5 years with alterations of the psicomotor development and thus to make a comparison of both samples.The study is of cross-sectional descriptive type and it was made during the months of May to November of year 2002. The sample that conform the study is compound of two subsamples: 36 physiotherapists of the Region of Lisbon and Vale do Tejo (Portugal) and the other by 23 physiotherapists of Extremadura (Cáceres and Badajoz) that they have by daily activity the treatment of children with alterations of the psicomotor development, with ages between 0-5 years. The instrument used for the collection of data was a questionnaire, made up of closed, opened questions and of multiple answer, using for a this last Likert scale. The 87 % of physiotherapists of Extremadura know the scale Bobath, a 78 % the Factorial Clinical Valuation of M. Le Métayer and % the valuation according to Vojta. The use of these scales is a 22 % Bobath, 26 % M. Le Métayer and 2 % Vojta. On the other hand, 92 % of physiotherapists of the Portuguese sample know the scale Bobath always and use this like valuation protocol a 50 %, being the scales of M. Le Métayer and Vojta practically strangers.The most well-known scales validated internationally but nothig used in Spain and Portugal is Gross Motor Function Measure (GMFM) being other scales like PFMAI (Posture Scale and Motor Fine Assessment of Infants) and the Pediatric Evaluation of Disability Inventory (PEDI) great strangers for physiotherapists who conform the sample of the study
Asunto(s)
Masculino , Femenino , Lactante , Preescolar , Humanos , Trastornos Psicomotores/diagnóstico , Desempeño Psicomotor/clasificación , Desarrollo Infantil/clasificación , Epidemiología Descriptiva , Recolección de Datos/métodos , Modalidades de Fisioterapia/estadística & datos numéricosRESUMEN
OBJECTIVES: To analyse grey matter changes in early stages of Huntington's disease using magnetic resonance imaging (MRI) and the technique of voxel based morphometry (VBM). METHODS: Forty four patients with a molecularly confirmed clinical diagnosis of Huntington's disease based on the presence of motor signs were included in the study. Patients were clinically rated using the Unified Huntington's Disease Rating Scale; all were in early clinical stages of the disease (that is, Shoulson stages I and II). High resolution volume rendering MRI scans (MP-RAGE) were acquired. MRI data were volumetrically analysed in comparison to an age matched normal database by VBM, using statistical parametric mapping (SPM99). RESULTS: In Huntington's disease, robust regional decreases in grey matter density (p<0.001, corrected for multiple comparisons)-that is, atrophy-were found bilaterally in striatal areas as well as in the hypothalamus and the opercular cortex, and unilaterally in the right paracentral lobule. The topography of striatal changes corresponded to the dorso-ventral gradient of neuronal loss described in neuropathological studies. Stratification according to clinical severity showed a more widespread involvement extending into the ventral aspects of the striatum in the group of more severely affected patients. CONCLUSIONS: The topography of cerebral volume changes associated with Huntington's disease can be mapped using VBM. It can be shown that cerebral grey matter changes co-vary with clinical severity and CAG repeat length.
Asunto(s)
Encéfalo/patología , Enfermedad de Huntington/patología , Imagen por Resonancia Magnética , Adulto , Anciano , Alelos , Atrofia/patología , Mapeo Encefálico/instrumentación , Núcleo Caudado/patología , Cuerpo Estriado/patología , Femenino , Lateralidad Funcional/fisiología , Humanos , Enfermedad de Huntington/genética , Hipotálamo/patología , Masculino , Persona de Mediana Edad , Trastornos Psicomotores/diagnóstico , Putamen/patología , Índice de Severidad de la Enfermedad , Expansión de Repetición de Trinucleótido/genéticaRESUMEN
The contingent negative variation, an event-related potential related to neural activity in the frontal lobe and basal ganglia, neuropsychological tests and structural MRI were used to examine CNS function and structure in HIV-positive patients receiving antiretroviral therapy. Relative to controls, HIV patients had smaller thalamic volume and reduced late contingent negative variation amplitude that correlated with caudal atrophy. Behaviorally, viremic patients were more impaired than virally suppressed patients and controls on neuropsychological measures of psychomotor speed, selective attention and mental flexibility. These results suggest that antiretroviral therapy may not be effective in protecting cortical and subcortical structures against HIV-related neuropathology, regardless of immune function. However, the benefits of antiretroviral therapy on immune function appear to facilitate neurocognitive performance.
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Antirretrovirales/farmacología , Encéfalo/efectos de los fármacos , Encéfalo/fisiopatología , Potenciales Evocados/efectos de los fármacos , Infecciones por VIH/fisiopatología , Adulto , Atrofia/patología , Atrofia/fisiopatología , Encéfalo/patología , Núcleo Caudado/patología , Trastornos del Conocimiento/complicaciones , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/fisiopatología , Potenciales Evocados/fisiología , Infecciones por VIH/complicaciones , Infecciones por VIH/tratamiento farmacológico , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Pruebas Neuropsicológicas , Trastornos Psicomotores/complicaciones , Trastornos Psicomotores/diagnóstico , Trastornos Psicomotores/fisiopatología , Tiempo de Reacción/efectos de los fármacos , Tálamo/patología , Viremia/tratamiento farmacológico , Viremia/fisiopatologíaRESUMEN
OBJECT: In an attempt to gain a better understanding of the cerebral functions represented in the angular gyrus and to spare them during surgery, the authors studied patients with brain tumors located close to the angular gyrus and mapped cortical sites by using electrostimulation. METHODS: Before undergoing tumor removal, six right-handed patients (five with left and one with right hemisphere tumors) were studied using cortical mapping with the aid of calculating, writing, finger-recognition, and color-naming tasks in addition to standard reading and object-naming tasks (for a total of 36 brain mapping studies). Strict conditions of functional site validation were applied to include only those cortical sites that produced repetitive interferences in the function tested. Preoperatively, four of the patients exhibited discrete symptoms related to Gerstmann syndrome while performing very specific tasks, whereas the other two patients presented with no symptoms of the syndrome. No patient had significant language or apraxic deficits. Distinct or shared cortical sites producing interferences in calculating, finger recognition, and writing were repeatedly found in the angular gyrus. Object- or color-naming sites and reading-interference sites were also found in or close to the angular gyrus; although frequently demonstrated, these latter results were variable and unpredictable in the group of patients studied. Finger agnosia and acalculia sites were also found elsewhere, such as in the supramarginal gyrus or close to the intraparietal sulcus. Mechanisms involved in acalculia, agraphia, or finger agnosia (either complete interferences or hesitations) during stimulation were various, from an aphasia-like form (for instance, the patient did not understand the numbers or words given for calculating or writing tasks) to an apparently pure interference in the function tested (patients understood the numbers, but were unable to perform a simple addition). CONCLUSIONS: Symptoms of Gerstmann syndrome can be found during direct brain mapping in the angular gyrus region. In this series of patients, sites producing interferences in writing, calculating, and finger recognition were demonstrated in the angular gyrus, which may or may not have been associated with object-naming, color-naming, or reading sites.
Asunto(s)
Agnosia/diagnóstico , Mapeo Encefálico/instrumentación , Trastornos del Conocimiento/diagnóstico , Terapia por Estimulación Eléctrica/instrumentación , Lóbulo Frontal/fisiopatología , Síndrome de Gerstmann/fisiopatología , Síndrome de Gerstmann/terapia , Lóbulo Occipital/fisiopatología , Lóbulo Parietal/fisiopatología , Trastornos Psicomotores/diagnóstico , Reconocimiento en Psicología , Lóbulo Temporal/fisiopatología , Neoplasias Encefálicas/complicaciones , Femenino , Lóbulo Frontal/patología , Síndrome de Gerstmann/etiología , Humanos , Imagen por Resonancia Magnética , Masculino , Matemática , Persona de Mediana Edad , Lóbulo Occipital/patología , Lóbulo Parietal/patología , Complicaciones Posoperatorias , Estudios Prospectivos , Índice de Severidad de la Enfermedad , Lóbulo Temporal/patologíaRESUMEN
High-frequency deep brain stimulation (DBS) of the subthalamic nucleus (STN) improves the motor symptoms of Parkinson's disease (PD). Opposite changes in mood, such as mania or depression, have been reported after surgery, but it is not known whether these side effects are specifically related to STN DBS. To learn whether STN DBS also influences the limbic loop, we investigated acute subjective psychotropic effects related to levodopa or bilateral STN DBS. After a median postoperative follow-up of 12 months, 50 PD patients completed the Addiction Research Center Inventory (ARCI), assessing subjective psychotropic effects in four conditions: off-drug/on-stimulation; off-drug/off-stimulation; on-drug/off-stimulation; and on-drug/on-stimulation. Both levodopa and STN DBS improved all the ARCI subscales, indicating subjective feelings of well being, euphoria, increase in motivation, and decrease in fatigue, anxiety, and tension. A suprathreshold dose of levodopa was significantly more effective than STN DBS, using the same electrical parameters as for chronic stimulation, on four of the five ARCI subscales. We concluded that 1) both STN DBS and levodopa have synergistic acute beneficial psychotropic effects in PD, 2) the psychotropic effects of both treatments need to be considered in the long-term management of chronic STN DBS, and 3) the results indicate an involvement of the limbic STN in mood disorders of PD.
Asunto(s)
Antiparkinsonianos/uso terapéutico , Terapia por Estimulación Eléctrica/instrumentación , Levodopa/uso terapéutico , Enfermedad de Parkinson/terapia , Trastornos Psicomotores/diagnóstico , Núcleo Subtalámico/fisiología , Actividades Cotidianas , Anciano , Antiparkinsonianos/administración & dosificación , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/fisiopatología , Trastorno Depresivo Mayor/diagnóstico , Femenino , Lóbulo Frontal/fisiopatología , Lateralidad Funcional , Humanos , Levodopa/administración & dosificación , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Enfermedad de Parkinson/tratamiento farmacológico , Enfermedad de Parkinson/psicología , Pruebas Psicológicas , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios , TiempoRESUMEN
OBJECTIVES: To evaluate the one year cognitive, mood state, and quality of life (QoL) outcomes of unilateral thalamic deep brain stimulation (DBS) for essential tremor (ET). METHODS: 40 patients diagnosed with ET completed comprehensive neuropsychological assessments about one month before and three and 12 months after DBS electrode implantation. Data were subjected to multivariate analyses, and significant results were further analysed using univariate techniques. RESULTS: Analyses revealed statistically significant improvements on a cognitive screening measure and in aspects of fine visuomotor and visuoperceptual functions, verbal memory, mood state, and QoL. No group-wise declines in cognition were observed, but more patients showed declines than improvements on language and visual memory tests. Semantic verbal fluency declined significantly in four (10%) of the patients. In these four patients, diminished lexical verbal fluency was present at baseline. CONCLUSION: Cognitive, mood, and QoL outcomes after one year of DBS for ET are favourable; there were no overall deleterious effects on cognition, and DBS was accompanied by a significant reduction in anxiety and improvements in quality of life. However, preoperative verbal fluency diminution may predispose to further fluency declines after DBS.