Despite the many studies examining linguistic deterioration in Alzheimer's disease (AD), very little is known about changes in verbal expression during the preclinical phase of this disease. The objective of this study was to determine whether changes in verbal expression occur in the preclinical phase of AD. The sample consisted of 40 healthy Spanish speakers from Antioquia, Colombia. A total of 19 were carriers of the E280A mutation in the Presenilin 1 gene, and 21 were noncarrier family members. The two groups were similar in age and education. All the participants were shown the Cookie Theft Picture Card from the Boston Diagnostic Aphasia Examination and were asked to describe the scene. Specific grammatical and semantic variables were evaluated. The performance of each group was compared using multivariate analyses of the variance for semantic and grammatical variables, and errors. Carriers of the mutation produced fewer semantic categories than noncarriers. In the preclinical phase of AD, changes in verbal expression are apparent and early detection of these differences may assist the early diagnosis of and intervention in this disease.
Few studies have examined the presence of linguistic deficits in the preclinical phase of Alzheimer's disease (AD). A total of 19 healthy carriers of the E280A presenilin-1 gene mutation in chromosome 14 and 21 noncarrier family members from Antioquia, Colombia, were administered a neurolinguistic evaluation of lexical-semantic processes. Both groups were similar in age, educational level, and gender. Carriers scored significantly lower than noncarriers on naming of famous faces. Cognitive changes in lexical-semantic tasks can be detected before the clinical diagnosis of probable familial AD, and a neurolinguistic evaluation may be a useful tool in the early clinical diagnosis of sporadic AD as well.
Background
A growing link between prenatal exposure to misoprostol (PEM) and Moebius syndrome (MS) or sequence has been reported. Our objectives were to describe the craniofacial clinical manifestations associated with MS and to determine the frequency of PEM, comparing cases of exposure and nonexposure.
Methods
A descriptive, cross‐sectional study of 140 patients with MS. Clinical evaluations, as well as 140 interviews with mothers residing in 39 cities or districts of Colombia, were carried out between April 2008 and May 2018. Additionally, previous clinical history of each case was reviewed.
Results
The average age of the patients with MS was 8.4 years (29 days to 48 years). All of them presented facial nerve involvement and abducens, 112 (80.8%) with bilateral facial paralysis. 98.5% presented craniofacial disorders, and there were no significant differences between those exposed and not exposed to misoprostol. Forty‐seven percentage of patients (64 cases) presented PEM, in 98.4% of which abortion had been intended.
Conclusion
PEM could have an influence in the appearance of new cases of MS by increasing the frequency of bleeding during gestation, without increasing the number of associated craniofacial malformations. We present the biggest series on MS and craniofacial findings in the literature, along with a meaningful reference for its understanding.
Level of Evidence
3b.
A partir del modelo conceptual planteado en la Clasificación Internacional de Funcionamiento, Discapacidad y Salud (CIF), y específicamente en su versión para niños y adolescentes, se propone que los programas y servicios para la población pediátrica con discapacidad incluyan las diferentes dimensiones allí planteadas, pero muy especialmente los aspectos relacionados con la participación, la eliminación de barreras del contexto, e implementando modelos que se centren en la función yla independencia en las actividadescotidianas del niño. Basados en esta premisa, y en las recomendaciones de diferentes autores, el Comité de Rehabilitación de Antioquia, en la ciudad de Medellín – Colombia, ha venido implementando un modelo de atención que tiene como eje central el logro de independencia en las actividades de la vida diaria y la promoción de la participación. Los programas que se han derivado de este modelo para la atención de niños y adolescentes se presentan en este artículo. De otra parte, la pandemia actual por Covid-19 y la cuarentena en el país han revelado la importancia de la telerrehabilitación, de la defensa de los derechos de los niños con discapacidad y de los modelos de atención que se enfocan en la familia y en el contexto. Este artículo presenta al final una propuesta de agenda que permita transformar los modelos de atención en rehabilitación pediátrica y que tenga presente los aprendizajes que se han venido generando durante este período de emergencia sanitaria por el Covid-19.
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