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

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

European journal of pediatrics, 2010-10, Vol.169 (10), p.1255-1261 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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Título:
Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis
Autor: Lalatta, Faustina ; Quagliarini, Donatella ; Folliero, Emanuela ; Cavallari, Ugo ; Gentilin, Barbara ; Castorina, Pierangela ; Forzano, Francesca ; Forzano, Serena ; Grosso, Enrico ; Viassolo, Valeria ; Naretto, Valeria Giorgia ; Gattone, Stefania ; Ceriani, Florinda ; Faravelli, Francesca ; Gargantini, Luigi
Assuntos: Adaptation, Psychological ; Adult ; Amniocentesis ; Anthropometry ; Biological and medical sciences ; Chromosomes, Human, X - genetics ; Female ; General aspects ; General aspects. Genetic counseling ; Genetic Counseling ; Humans ; Italy ; Maternal Age ; Medical genetics ; Medical sciences ; Medicine ; Medicine & Public Health ; Metabolic diseases ; Miscellaneous ; Original Paper ; Other metabolic disorders ; Parents - psychology ; Pediatrics ; Pregnancy ; Prenatal Diagnosis ; Sex Chromosome Aberrations ; Surveys and Questionnaires
É parte de: European journal of pediatrics, 2010-10, Vol.169 (10), p.1255-1261
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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Descrição: 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.
Editor: Berlin/Heidelberg: Springer-Verlag
Idioma: Inglês

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

Berlin/Heidelberg: Springer-Verlag

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