Handbook of Genetic Counseling/XXX Syndrome

XXX Syndrome Introduction Greet family and acknowledge prior contact. Contracting Discuss the reason for referral - amniocentesis results. Express empathy over what a surprise the diagnosis was for the family. Assess their main questions and concerns and find out what they hope to gain from the session. Find out how much reading/research they have done on XXX Syndrome and assess the degree of their knowledge about heredity and genetics. Explain our intent to address their concerns and questions about Triple X. Explain that we will share information about the syndrome, discuss the test results, how the syndrome is caused, recurrence risks, problems associated with Triple X, and medical management. Elicit Medical History Maternal and paternal age Ethnicity Consanguinity Chronic illnesses Elicit Family History Construct pedigree Identify possible risks Pregnancy History Review information from intake. G (# of pregnancies), P (# of live births), SAb, EAb Exposures/medical complications (infection, fever, rash, medication, smoking, alcohol, recreational drugs, x-rays, bleeding) Genetics of XXX Syndrome 47, XXX karyotype Inheritance pattern: chromosomal abnormality caused by non-disjunction (possible correlation to advanced maternal age) Prevalence: 1 in 1,000 females Recurrence risk: less than 1% Natural History and Clinical Features of XXX Syndrome At birth, girls with Triple X show no physical stigmata and are normally developed. The infants may have a lower than normal birth weight. These girls are described as being quiet and passive babies with a lower assertive age during childhood. They are usually delayed in motor, speech, and psychosocial development with delayed emotional maturation. Tall stature (at the 80th percentile by adolescence, with an average adult height of 172 cm). Comparatively low weight in comparison to height. Lower head circumference (25th - 35th percentile) Back problems may develop due to weak musculature. Lower IQ (average is approximately 90) - however, mental retardation is very rare. May have learning difficulties in school that require outside help. Normal puberty and average onset of menstruation. Fertile, with the possibility of early menopause. No increased risk of disease or mental illness. Management Early intervention programs with mental, social, and motor stimulation are suggested to help prevent possible developmental delay. Speech therapy is recommended to counteract speech delays. Participation in team sports and group activities is suggested to improve motor skills and psychosocial adaptation. Schools should provide special education or resource help for learning difficulties. Psychosocial Issues Self-fulfilling prophecy leading to a behavior problem Should they tell their pediatrician? Should they tell their daughter's teachers? Should they tell their daughter? Resources The Turner Center Psychiatric Hospital Aarhus Skovagervej 2 DK-8240 Risskov Denmark www.aaa.dk/turner/engelsk Klinefelter Syndrome and Associates PO Box 119 Roseville, CA 95678-0119 (916) 773-2999 www.genetic.org Website on Triple X Syndrome www.triplo-x.org Website with family stories www.voicenet.com/~markr/triple.html Notes The information in this outline was last updated in 2002.