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Rivista di Pediatria, Neonatologia, Medicina dell’Adolescenza
e Neuropsichiatria Infantile


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Minerva Pediatrica 2016 Mar 23

Copyright © 2016 EDIZIONI MINERVA MEDICA

lingua: Inglese

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

Claudia Rigamonti 1, Paola Vizziello 1, Federico MONTI 1, Francesca DALL’ARA 1, Paola F. AJMONE 1, Claudia GIAVOLI 2, Gaia SILIBELLO 3, Faustina LALATTA 8

1 Child and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy; 2 Endocrinology and Metabolic Diseases Unit, Department of Clinical Science and Community, University of Milan, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy; 3 Child and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy; 4 Clinical Genetics Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy


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BACKGROUND: The aim of this study is twofold: 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 behavioural 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 behaviour. 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 behavioural 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. Behavioural 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 to have felt very anxious when the diagnosis was given, but 9 of them (75%) said their concern diminished after receiving genetic counseling.
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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claudia.rigamonti@policlinico.mi.it