Klinefelter Syndrome in preschool children: the importance of an early multidisciplinary approach for patients and families

BACKGROUND: The aim of this study is twofolded: to present a multi-disciplinary and multi-centric approach in the early care of patients with Klinefelter Syndrome (KS) and their families and to increase the knowledge about the behavioral phenotype of preschool boys with KS. METHODS: Fifteen boys (mean age 2 years and 7 months) who had been diagnosed prenatally were evaluated in the areas of adaptive skills, developmental level, language, and behavior. Besides offering information about their child, both parents of each couple were asked to describe their feelings at the time of the prenatal diagnosis and at the time of the study. RESULTS: The behavioral phenotype of the boys of our sample was characterized by a mean Developmental Quotient of 95 (in the normal range) but by low scores in the domain of communication, particularly in the area of expressive language. Behavioral problems were observed in some of the children, and the parents reported significant levels of distress related to their relationship with the child. All parents recalled feeling very anxious when the diagnosis was given, but nine of them (75%) said their concern diminished after receiving genetic counselling. CONCLUSIONS: A multi-disciplinary model is essential in the care of 47,XXY boys and in the assistance to their families, in order both to facilitate the children's growth and offer to the parents updated clinical and psychosocial information about the Klinefelter Syndrome and support.