Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.
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.
Lalatta
Faustina
F
UOD Genetica Medica, Dipartimento Area Salute della Donna del Bambino e del Neonato Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy. f.lalatta@policlinico.mi.it
Quagliarini
Donatella
D
Folliero
Emanuela
E
Cavallari
Ugo
U
Gentilin
Barbara
B
Castorina
Pierangela
P
Forzano
Francesca
F
Forzano
Serena
S
Grosso
Enrico
E
Viassolo
Valeria
V
Naretto
Valeria Giorgia
VG
Gattone
Stefania
S
Ceriani
Florinda
F
Faravelli
Francesca
F
Gargantini
Luigi
L
D000223:Adaptation, Psychological; D000328:Adult; D000649:Amniocentesis; D000886:Anthropometry; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007558:Italy; D008423:Maternal Age; D010290:Parents / Q000523:psychology*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations; D011795:Surveys and Questionnaires
J Endocrinol Invest. 2006 Jul-Aug;29(7):581-93
16957405
Am J Med Genet. 2002 Jun 1;110(1):3-10
12116264
Pediatrics. 1988 Oct;82(4):619-30
2459656
Pediatr Res. 1989 Jun;25(6):577-9
2740147
Am J Med Genet. 2001 Sep 1;102(4):309-13
11503155
Arch Dis Child. 1999 Feb;80(2):192-5
10325742
Birth Defects Orig Artic Ser. 1979;15(1):15-73
444638
J Am Acad Child Adolesc Psychiatry. 1998 Mar;37(3):286-91
9519633
Am J Med Genet A. 2004 Feb 15;125A(1):108-11; author reply 112
14755479
Pediatrics. 1995 Aug;96(2 Pt 1):302-8
7630689
Prenat Diagn. 2000 Jan;20(1):37-40
10701849
Lancet. 1959 Sep 26;2(7100):423-5
14406377
Ann Hum Biol. 1994 Jan-Feb;21(1):57-66
8147577
Indian J Pediatr. 2008 Jun;75(6):629-31
18759093
Pediatrics. 1989 Oct;84(4):678-82
2780130
Eur J Orthod. 2005 Aug;27(4):396-401
16043476
Am J Med Genet. 1992 Oct 1;44(3):365-8
1488987
Am J Med Genet. 2002 Jun 1;110(1):11-8
12116265
Eur J Hum Genet. 2010 Mar;18(3):265-71
19568271