RESUMEN
49,XXXXY was previously associated with profound to severe intellectual deficits. However, prior research papers on the cognitive profiles of this population were confounded by small samples sizes, wide age spreads, and incomplete histories of testosterone replacement therapy. This study is the first comprehensive, international investigation of the neurocognitive aspects of 49,XXXXY, and the potential effects of biological treatment on this profile. Sixty-seven boys from infancy to 11 years of age were enrolled in this longitudinal study, with the majority of boys postnatally diagnosed though chromosomal analysis. These boys received a comprehensive neurocognitive evaluation tailored to specific language-based deficits and cognitive challenges. Results revealed higher neurocognitive capacities, both verbally and nonverbally, than previously reported in this disorder. Infant boys with 49,XXXXY who received early hormonal therapy (EHT) had significantly higher scores on the cognitive domain of the Bayley Scales of Infant Development than untreated infants (p = .013). In addition, treated school-aged participants had significantly better scaled scores than untreated boys in form completion (p = .042), a task that requires deductive reasoning, on nonverbal testing on the Leiter International Performance Scales. This study indicates greater cognitive capacities with a wide range of abilities in the child with 49,XXXXY, thus warranting further investigation to identify and understand the critical influences on the etiology and the variability of those capacities.
Asunto(s)
Trastornos del Conocimiento/tratamiento farmacológico , Síndrome de Klinefelter/tratamiento farmacológico , Trastornos del Desarrollo del Lenguaje/tratamiento farmacológico , Trastornos Neurocognitivos/tratamiento farmacológico , Aneuploidia , Niño , Preescolar , Cromosomas Humanos X/genética , Cromosomas Humanos Y/genética , Trastornos del Conocimiento/complicaciones , Trastornos del Conocimiento/genética , Trastornos del Conocimiento/fisiopatología , Terapia de Reemplazo de Hormonas , Humanos , Lactante , Recién Nacido , Síndrome de Klinefelter/complicaciones , Síndrome de Klinefelter/genética , Síndrome de Klinefelter/fisiopatología , Trastornos del Desarrollo del Lenguaje/complicaciones , Trastornos del Desarrollo del Lenguaje/genética , Trastornos del Desarrollo del Lenguaje/fisiopatología , Estudios Longitudinales , Masculino , Trastornos Neurocognitivos/complicaciones , Trastornos Neurocognitivos/genética , Trastornos Neurocognitivos/fisiopatologíaRESUMEN
PURPOSE OF REVIEW: Although 47,XXY (Klinefelter syndrome) was first discovered more than 50 years ago, there have been limited comprehensive studies on this disorder. The present review explains the study of neurodevelopmental dysfunction and the impact of testosterone replacement at specific junctions in the life of males with 47,XXY. The intricate relationship between testosterone, neurodevelopment, health, and well being warrants an in-depth investigation in order to achieve optimal outcomes. RECENT FINDINGS: Current literature suggests that the implementation of biological treatment has a positive impact on numerous areas of neurodevelopment. Further research is needed to determine ideal dosage, timing, and frequency of biological treatment for efficacy and safety of the child with 47,XXY. SUMMARY: As noninvasive prenatal screening has detected increasing numbers of fetuses with 47,XXY, parents may benefit from both prenatal and postnatal counseling, including the latest innovative biological treatment, that may further optimize the child's outcome, especially when coupled with targeted early intervention services.