Saturday, October 16, 11am-3pm

Massachusetts Area Trisomy X Support Group

 

Goal:

All are welcome- families, caregivers, and medical professionals.  Childcare will be provided with guided activities supported by speech, occupational, and physical therapists. Guest Speaker:Lennie Wilson MSN, APRN, CNS-B on “Trisomy X Past Present and Future”. Please contact Joanne Burke RN if you are interested in an email distribution list for this support group jomamaburke@comcast.net

 

“Achieving your MaXimum Potential”

 

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Trisomy X is also known as triple X syndrome or by its karyotype,47, XXX. It is a sex chromosome condition caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal condition, occurring in approximately 1 in 1,000 female births. An estimated 10-30% of fertilized human eggs have chromosomal aneuploidies. In live births, trisomies account for 0.3-0.5% of newborns. It is well accepted fact that an additional X chromosome confers fetal survival.  Some individuals are only mildly affected or asymptomatic, it is estimated that only 3% of individuals with trisomy X are actually diagnosed. The lack of diagnosis or delay in diagnosis may be attributed to mild symptoms or watchful waiting associated with speech and motor delays. Delay in diagnosis is about 9 years.

The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders (anxiety and depression), and other psychological disorders are also more common than in the general population.

Trisomy X commonly occurs as a result of nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. The risk of trisomy X increases with advanced maternal age. The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation, but genotype-phenotype relationships remain to be defined. Diagnosis during the prenatal period by amniocentesis or chorionic villi sampling is common. Indications for postnatal diagnoses most commonly include developmental delays or hypotonia, learning disabilities, emotional or behavioral difficulties, or POF. Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism. Genetic counseling is recommended. Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed. School-age children and adolescents benefit from a psychological evaluation with an emphasis on identifying and developing an intervention plan for problems in cognitive/academic skills, language, and/or social-emotional development. Adolescents and adult women presenting with late menarche, menstrual irregularities, or fertility problems should be evaluated for POF. Patients should be referred to support organizations to receive individual and family support. The prognosis is variable, depending on the severity of the manifestations and on the quality and timing of treatment.

 

Above information is part of the abstract from the research article “A review of trisomy X (47,XXX)” from the Orphanet Journal of Rare Diseases 2010. To read the full article http://www.ojrd.com/content/5/1/8

 

If you know any patients or families please refer them to Joanne Burke RN, founder of the 1^st Massachusetts area support group for Trisomy X – “Taking it to the Ma xXX” jomamaburke@comcast.net