47,XYY syndrome, a sex chromosome aneuploidy that affects approximately 1 in 1,000 male newborns, has been the subject of increasing attention from the medical and scientific community. Prenatal diagnosis, increasingly common due to the expansion of the use of techniques such as amniocentesis and chorionic villus sampling, imposes on parents the challenge of dealing with the uncertainty and anxiety that accompany the news of an unexpected genetic condition. (Lalatta et al., 2012)
Although studies have shown that the postnatal development of young people with 47,XYY is largely normal, the lack of controlled research on the neurological, cognitive, and behavioral phenotype contributes to the perpetuation of prejudices and negative attitudes. (Lalatta et al., 2012) The unfounded belief that the syndrome is intrinsically associated with aggressive and antisocial behaviors, originating from biased studies in the 1970s, amplifies parental concerns and interferes with the relationship between the family and the health care provider. (Lalatta et al., 2012)
In this context, multidisciplinary counseling, which integrates the expertise of clinical geneticists, pediatricians and psychologists, emerges as a fundamental tool for empowering parents in the face of diagnosis. (Lalatta et al., 2012) The multidisciplinary team works to provide accurate information about the syndrome, demystify beliefs and offer psychological support for decision-making and facing challenges. (Lalatta et al., 2012)
A study conducted by Lalatta et al. (2012) demonstrated the effectiveness of multidisciplinary counseling in the monitoring of 18 cases of 47,XYY children. The results indicated that multidisciplinary support contributed to reducing parental anxiety, establishing realistic expectations about the child’s development, and promoting a healthier relationship between the family and the child. (Lalatta et al., 2012)
Clinical monitoring of the patients also revealed relevant data on the phenotype of the syndrome. The children presented weight, height and head circumference above average, in addition to some specific facial characteristics, such as mild hypertelorism, wide nasal bridge and low-set ears. (Lalatta et al., 2012) Language delay was observed in some cases, which reinforces the importance of regular pediatric monitoring and early intervention with speech therapy. (Lalatta et al., 2012)
In conclusion, the prenatal diagnosis of 47,XYY Syndrome, although initially surrounded by uncertainty, can be faced with greater serenity when parents have access to multidisciplinary counseling. Comprehensive professional support contributes to demystifying the syndrome, promoting the family’s mental health and the full development of the child. (Lalatta et al., 2012)
Reference:
Lalatta, F., Folliero, E., Cavallari, U., Di Segni, M., Gentilin, B., Fogliani, R., … & Gargantini, L. (2012). Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior. Italian Journal of Pediatrics, 38(1), 52.
