TY - JOUR
T1 - Klinefelter Syndrome in preschool children
T2 - the importance of an early multidisciplinary approach for patients and families
AU - Rigamonti, Claudia
AU - Vizziello, Paola
AU - Monti, Federico
AU - Dall'ara, Francesca
AU - Ajmone, Paola F.
AU - Giavoli, Claudia
AU - Silibello, Gaia
AU - Lalatta, Faustina
PY - 2019/10/1
Y1 - 2019/10/1
N2 - 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.
AB - 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.
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U2 - 10.23736/S0026-4946.16.04412-1
DO - 10.23736/S0026-4946.16.04412-1
M3 - Article
C2 - 27008365
AN - SCOPUS:85074233846
VL - 71
SP - 395
EP - 403
JO - Minerva Pediatrica
JF - Minerva Pediatrica
SN - 0026-4946
IS - 5
ER -