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47,XXX: what is the prognosis?
M G Linden1, B G Bender, R J Harmon
1National Jewish Center for Immunology and Respiratory Medicine, Denver, CO 80206.
Insights
Girls with the 47,XXX karyotype often experience developmental delays, particularly in speech and language. While generally healthy, they may face academic and behavioral challenges throughout school years.
Area of Science:
- Genetics
- Developmental Pediatrics
- Reproductive Medicine
Background:
- Prospective study observing children with sex chromosome anomalies.
- Focus on 11 unselected girls with 47,XXX karyotype, aged 15-22 years.
Observation:
- Infants with 47,XXX karyotype are typically indistinguishable from normal infants in the first year.
- Neuromotor development may show slight delays.
- Speech and language delays become apparent by age 2, often requiring intervention.
Findings:
- School-aged children exhibit speech/language deficits, poor coordination, academic struggles, and immature behavior.
- Adolescent girls are often tall with somatic complaints; sexual development is typically normal.
- Significant variability exists, with psychiatric disorders diagnosed in 7 of 11 subjects during adolescence.
Implications:
- The 47,XXX karyotype occurs in approximately 1/1000 newborns.
- Genetic amniocentesis can diagnose this karyotype prenatally.
- Counseling expectant parents on the significance and prognosis of the 47,XXX karyotype is crucial.
Abstract:
Eleven unselected 47,XXX girls, now 15 to 22 years of age, have been observed from birth in a prospective study of children with sex chromosome anomalies. A description of their growth and development is presented. The 47,XXX infants were not generally distinguishable from chromosomally normal children in the first year of life, even though there was a slight delay in neuromotor development. By 2 years of age, developmental delays in speech and language often became evident, and speech therapy was often necessitated in the preschool years. Early school problems included speech and language deficiencies, lack of coordination, poor academic performance, and immature behavior; these persisted throughout the school years. By high school age, a 47,XXX girl was generally tall and often subject to somatic complaints. Sexual development was generally normal. Seven of the 11 propositae had a diagnosed psychiatric disorder or disturbance at some time during adolescence. Variability within this syndrome is great; one proposita is in college and another is mentally retarded. The frequency of the diagnosis of the 47,XXX karyotype by genetic amniocentesis is estimated to be 1/1000, the same incidence as in the newborn population. Expectant parents must be counseled as to the significance of this karyotype and prognostic information must be given. Suggested guidelines are included.