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.
47,XXX Triple X syndrome Prenatal diagnosis Genetic counselling Parental adaptation
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We thank Dr. Tint GS for advice and assistance.
Conflict of interest
Authors declare no conflict of interest or any financial relationship with the organisation that hosted the research.
Attili G (2002) QUIT. Questionari italiani del temperamento, Ed. EricksonGoogle Scholar
Bender BG, Harmon RJ, Linden MG, Robinson A (1995) Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities. Pediatrics 96(2 Pt 1):302–308PubMedGoogle Scholar
Bender BG, Linden MG, Harmon RJ (2001) Neuropsychological and functional cognitive skills of 35 unselected adults with sex chromosome abnormalities. Am J Med Genet 102(4):309–13CrossRefPubMedGoogle Scholar
Bender BG, Linden MG, Robinson A (1989) Verbal and spatial processing efficiency in 32 children with sex chromosome abnormalities. Pediatr Res 25(6):577–9CrossRefPubMedGoogle Scholar
Cacciari E, Milani S, Balsamo A, Spada E et al (2006) Italian cross-sectional growth charts for height, weight and BMI (2–20). J Endocrinol Invest 29:581–593PubMedGoogle Scholar
Christian SM, Koehn D, Pillay R et al (2000) Parental decisions following prenatal diagnosis of sex chromosome aneuploidy: a trend over time. Prenat Diagn 20(1):37–40CrossRefPubMedGoogle Scholar
Gagliardi L, Macagno F, Pedrotti D et al (1999) Standard antropometrici neonatali prodotti dalla task-force della Società Italiana di Neonatologia e basati su una popolazione italiana nord-orientale. Riv Ital Pediatr (IJP) 25:159–169Google Scholar
Harmon RJ, Bender BG, Linden MG, Robinson A (1998) Transition from adolescence to early adulthood: adaptation and psychiatric status of women with 47, XXX. J Am Acad Child Adolesc Psychiatry 37(3):286–291CrossRefPubMedGoogle Scholar
Jacobs PA, Baikie AG, Brown WM et al (1959) Evidence for the existence of the human “super female”. Lancet 2(7100):423–5CrossRefPubMedGoogle Scholar
Krusinskiene V, Alvesalo L, Sidlauskas A (2005) The craniofacial complex in 47, XXX females. Eur J Orthod 27(4):396–401CrossRefPubMedGoogle Scholar
Linden MG, Bender BG, Harmon RJ et al (1988) 47, XXX: what is the prognosis? Pediatrics 82(4):619–30PubMedGoogle Scholar
Linden MG, Bender BG, Robinson A (2002) Genetic counseling for sex chromosome abnormalities. Am J Med Genet 110(1):3–10CrossRefPubMedGoogle Scholar
Linden MG, Bender BG (2002) Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities. Am J Med Genet 110(1):11–8CrossRefPubMedGoogle Scholar
Nielsen J, Sillesen I, Sorensen AM et al (1979) Follow-up until age 4 to 8 of 25 unselected children with sex chromosome abnormalities, compared with sibs and controls. Birth Defects Orig Artic Ser 15(1):15–73PubMedGoogle Scholar
Otter M et al (2010) Triple X syndrome: a review of the literature. Eur J Hum Genet 18(3):1–7CrossRefGoogle Scholar
Ratcliffe SG, Pan H, McKie M (1994) The growth of XXX females: population-based studies. Ann Hum Biol 21(1):57–66CrossRefPubMedGoogle Scholar