European Journal of Pediatrics

, Volume 169, Issue 10, pp 1255–1261 | Cite as

Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis

  • Faustina Lalatta
  • Donatella Quagliarini
  • Emanuela Folliero
  • Ugo Cavallari
  • Barbara Gentilin
  • Pierangela Castorina
  • Francesca Forzano
  • Serena Forzano
  • Enrico Grosso
  • Valeria Viassolo
  • Valeria Giorgia Naretto
  • Stefania Gattone
  • Florinda Ceriani
  • Francesca Faravelli
  • Luigi Gargantini
Original Paper

Abstract

We report clinical and behavioural evaluation data in 42 Italian girls with triple X syndrome whose diagnosis was made prenatally between 1998 and 2006 in three Italian centres. At initial evaluation, reproductive and medical histories were collected. Clinical assessment of the child was performed by a clinical geneticist and included a detailed personal history, physical evaluation and auxological measurements. To analyse how parents coped with specific events in the prenatal and postnatal periods, we conducted an interview that included 35 specific questions designed to elicit retrospective judgements on prenatal communication, present and future worries, needs and expectations. In a subset of probands, we also administered the formal Italian Temperament Questionnaire assessment test that investigates adaptation, general environment and socialisation. This test also assesses the emotional component of temperament. Clinical results in the affected children are similar to those previously reported with evidence of increased growth in the pre-puberal age and an average incidence of congenital malformation and health needs. Median age for the time first words were pronounced was 12 months, showing a slight delay in language skills, which tended to improve by the time they reached school age. Parental responses to the interview demonstrated residual anxiety but with a satisfactory adaptation to and a positive recall of the prenatal counselling session. Parental adaptation of the 47,XXX girls require indeed a proper educational support. This support seems to be available in Italy. An integrated approach to prenatal counselling is the best way to manage the anxiety and falsely imagined consequences that parents feel after being told that their foetus bears such a genetic abnormality.

Keywords

47,XXX Triple X syndrome Prenatal diagnosis Genetic counselling Parental adaptation 

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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Faustina Lalatta
    • 1
  • Donatella Quagliarini
    • 2
  • Emanuela Folliero
    • 1
  • Ugo Cavallari
    • 3
  • Barbara Gentilin
    • 1
  • Pierangela Castorina
    • 1
  • Francesca Forzano
    • 4
  • Serena Forzano
    • 5
  • Enrico Grosso
    • 6
  • Valeria Viassolo
    • 4
    • 7
  • Valeria Giorgia Naretto
    • 6
  • Stefania Gattone
    • 4
  • Florinda Ceriani
    • 2
  • Francesca Faravelli
    • 4
  • Luigi Gargantini
    • 8
  1. 1.UOD Genetica Medica, Dipartimento Area Salute della Donna del Bambino e del Neonato Fondazione IRCCS Cà GrandaOspedale Maggiore PoliclinicoMilanItaly
  2. 2.Clinica Ostetrico-ginecologica, Dipartimento Area Salute della Donna del Bambino e del Neonato Fondazione IRCCS Cà GrandaOspedale Maggiore PoliclinicoMilanItaly
  3. 3.Centro Malattie Rare Cardiologiche, UO Cardiologia AO SaccoMilanItaly
  4. 4.SSD Genetica Medica E.O. Ospedali GallieraGenoaItaly
  5. 5.Genetica Medica, AOU San Giovanni Battista di Torino and Dipartimento di PediatriaUniversità di TorinoTurinItaly
  6. 6.Genetica Medica AOU San Giovanni Battista di TorinoTurinItaly
  7. 7.Centro Tumori Ereditari IST GenovaGenoaItaly
  8. 8.U.O. Pediatria, A. O. TreviglioTreviglioItaly

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