RESUMO
INTRODUCTION: Compulsions are among the most typical behaviors in Prader-Willi syndrome (PWS). The most frequent causes of PWS are deletion of the genes located in the segment 15q11-q13 of the paternal allele and maternal uniparental disomy of cromosome 15. The aim of the present work was to study compulsive behavior in a sample of adults with PWS and analyze potential differences as a function of the genetic cause/subtype. MATERIAL AND METHODS: In the 27 study participants, existence of type I deletion (n=7), type II deletion (n=13), and maternal disomy (n=7) was determined by means of genetic tests. The Yale-Brown Obsessive Compulsive Scale, the Compulsive Behavior Checklist, and the Repetitive Behavior Questionnaire were used to assess occurrence and severity of compulsions. RESULTS: Most of the participants showed compulsive behavior, the most frequent compulsions were those of inappropriate grooming (skin picking) and order (hoarding). The occurrence of compulsions was less frequent in the maternal disomy group than in the deletion groups. Severe compulsions were more frequent in those participants with type II deletion than in the other groups. CONCLUSIONS: Differences in occurrence and severity of compulsions exist as a function of PWS genetic subtype. Our results support the idea that individuals with maternal disomy are less affected by compulsive behavior. More research on the severity of compulsions as a function of deletion type should be done, as the studies conducted so far have shown contradictory results.
Assuntos
Comportamento Compulsivo/genética , Síndrome de Prader-Willi/genética , Dissomia Uniparental/genética , Adulto , Deleção Cromossômica , Cromossomos Humanos Par 15/genética , Feminino , Humanos , Masculino , Fatores Sexuais , EspanhaRESUMO
Introducción: Las compulsiones forman parte de las conductas más características del síndrome de Prader-Willi (SPW). Las causas más frecuentes del SPW son la deleción de los genes localizados en el segmento 15q11-q13 del alelo paterno y la disomía uniparental materna del cromosoma 15. El objetivo de este trabajo fue estudiar las conductas compulsivas en una muestra de adultos con SPW y analizar posibles diferencias en función de la causa/subtipo genético. Material y métodos. En los 27 participantes del estudio, la presencia de deleción tipo I (n = 7), deleción tipo II (n = 13), y disomía materna (n = 7) fue determinada mediante pruebas genéticas. La presencia y gravedad de las compulsiones fueron evaluadas mediante los cuestionarios Yale-Brown Ob-sessive Compulsive Scale, Compulsive Behavior Checklist, y Repetitive Behavior Questionnaire. Resultados. La mayoría de los participantes presenta-ba conductas compulsivas, las más frecuentes eran las de cuidado inapropiado (excoriación) y orden (acumulación). La presencia de compulsiones era menor en el grupo con disomía materna que en los grupos de deleción. Las compulsiones graves eran más frecuentes en los participantes con deleción tipo II que en los otros grupos. Conclusiones. Existen diferencias en la presencia y gravedad de compulsiones en función del subtipo genético del SPW. Los resultados apoyan la idea que las personas con disomía materna están menos afectadas por las conductas compulsivas. Hay que seguir investigando sobre la gravedad de las compulsiones en función de los dos tipos de deleción, ya que los hallazgos de los distintos estudios son contradictorios
Introduction: Compulsions are among the most typical behaviors in Prader-Willi syndrome (PWS). The most frequent causes of PWS are deletion of the genes located in the segment 15q11-q13 of the paternal allele and maternal uniparental disomy of cromosome 15. The aim of the present work was to study compulsive behavior in a sample of adults with PWS and analyze potential differences as a function of the genetic cause/subtype. Material and methods. In the 27 study participants, existence of type I deletion (n = 7), type II deletion (n = 13), and maternal disomy (n = 7) was determined by means of genetic tests. The Yale-Brown Obsessive Compulsive Scale, the Compulsive Behavior Checklist, and the Repetitive Behavior Questionnaire were used to assess occurrence and severity of compulsions. Results. Most of the participants showed compulsive behavior, the most frequent compulsions were those of in-appropriate grooming (skin picking) and order (hoarding). The occurrence of compulsions was less frequent in the maternal disomy group than in the deletion groups. Severe compulsions were more frequent in those participants with type II deletion than in the other groups. Conclusions. Differences in occurrence and severity of compulsions exist as a function of PWS genetic subtype. Our results support the idea that individuals with maternal diso-my are less affected by compulsive behavior. More research on the severity of compulsions as a function of deletion type should be done, as the studies conducted so far have shown contradictory results
Assuntos
Humanos , Masculino , Feminino , Adulto , Comportamento Compulsivo/genética , Síndrome de Prader-Willi/genética , Dissomia Uniparental/genética , Deleção Cromossômica , Cromossomos Humanos Par 15/genética , Fatores Sexuais , EspanhaRESUMO
Introducción. La evaluación neuropsicológica en las personas con discapacidad intelectual es importante para determinar los déficits cognitivos específicos que subyacen a la afectación cerebral, limitan el funcionamiento intelectual y afectan al comportamiento adaptativo. A pesar de ello, no existen baterías neuropsicológicas en castellano adaptadas y validadas para esta población. Objetivo. Adaptar el programa integrado de exploración neuropsicológica-test Barcelona y validar la nueva versión, el test Barcelona para discapacidad intelectual (TB-DI), estableciendo datos normativos para el empleo clínico. Sujetos y métodos. A partir de los datos obtenidos en una muestra piloto de 65 personas con discapacidad intelectual, se realizaron cambios en el test original. Para estudiar las propiedades psicométricas del TB-DI, se administró a una muestra de 170 personas con discapacidad intelectual y a un grupo de 60 personas sin ella. Mediante modelos de regresión, se determinó qué variables eran importantes para la estratificación de los datos normativos. Resultados. El TB-DI, compuesto de 67 subtests agrupados en ocho dominios cognitivos, muestra unas buenas propiedades psicométricas. Se crean datos normativos para cinco grupos en función del nivel de discapacidad intelectual, la edad y la competencia curricular. Estos datos se organizan en percentiles, lo que permite trazar perfiles cognitivos en el ámbito clínico y experimental. Conclusión. El TB-DI es un instrumento de alta aplicabilidad para la población con discapacidad intelectual, y muestra una validez y una fiabilidad adecuadas, y con buenas propiedades psicométricas. Los perfiles cognitivos determinados mediante el TB-DI proporcionarán información valiosa para el tratamiento integral de las personas adultas con discapacidad intelectual leve y moderada (AU)
Introduction: Neuropsychological assessment in individuals with intellectual disability is of utmost importance in order to determine the cognitive deficits underlying brain dysfunction and limiting intellectual functioning and adaptive behavior. However, no neuropsychological batteries in Spanish language have been created and validated for this population. Aim: To adapt the programa integrado de exploración neuropsicológica-test Barcelona and to validate the new version, the Barcelona Test for Intellectual Disability (TB-DI). To create normative data for its clinical use. Subjects and Methods: The original test was modified based on data from a pilot sample of 65 individuals with intellectual disability. In order to study the psychometric properties of the TB-DI, it was administered to a sample of 170 individuals with intellectual disability and to a group of 60 individuals without it. The relevant variables for stratification of normative data were determined by means of regression models. Results: The TB-DI was finally composed by 67 subtests grouped in eight cognitive domains and it showed good psychometric properties. Normative data were created for five groups taking into account intellectual disability level, age and acquired curricular competence. These data were organized in percentiles in a way that allows the creation of cognitive profiles in the clinical and experimental fields. CONCLUSION. The TB-DI constitutes a tool of high applicability in the population with intellectual disability. It shows adequate validity and reliability, and it has good psychometric properties. The cognitive profiles obtained by the TB-DI will provide valuable information for the treatment of adult adults with mild and moderate intellectual disability (AU)
