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

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.

Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior

“…We frequently noted mild hypertelorism, broad nasal bridge, low set ears and mild flat malar region. Measured values for inner and outer canthal distance confirmed the tendency to a mild hypertelorism as we previously had observed in 43 females with XXX [15]. …”

“…Indeed, the frequency of behavior disorder and depressive reactions to stressful events was found to be greater in 47, XYY patients compared to a control group of 46, XY boys [12,15]. …”

Tetrasomy and pentasomy of the X chromosome

“…Those reported show a large variety in phenotype, always including mild to severe mental retardation, growth restriction and hypotonia. Some have suggested a direct relationship between the number of supernumerary X chromosomes and the phenotypic severity, whilst on the other hand many polysomy X syndromes carry a high level of variety within their physical and behavioural phenotype [3].…”

Parental Perception of Self-Empowerment in Pediatric Pharmacogenetic Testing: The Reactions of Parents to the Communication of Actual and Hypothetical CYP2D6 Test Results

“…This partly reflects how pharmacogenetic test results are provided at CCHMC, where test results emphasize whether changes in medication, dosing, etc., are required. Previous studies have shown that when parents receive positive genetic testing results related to disease predisposition or diagnostic genetic testing, they have more anxiety and show more concern for their child (Grosfeld, Beemer, Lips, Hendriks, & ten Kroode, 2000; Lalatta et al, 2010). However, there are significant differences between pharmacogenetic testing and predisposition and diagnostic testing.…”