The Focus Foundation has some exciting news to share — we have just published an article in Genetics and Medicine:
We show early hormonal treatment (EHT) can improve receptive and expressive language capabilities in boys with 47,XXY! This study is important because it is the first to replicate previous findings of reduced expressive language in untreated boys and show the positive effect hormonal treatment can have on these skills. The article provides evidence that with good clinical care, specifically EHT and regular neurodevelopmental check-ups, the effect of the additive X can be minimized.
PURPOSE: 47,XXY is associated with variable neurodevelopmental outcomes including deficits in expressive and receptive language development. Early hormonal treatment (EHT) has been associated with mitigating some deficiencies in boys with 47,XXY. This study investigates these language capabilities of 47,XXY boys in the first five years of life and the associated effects of EHT on these capabilities.
METHODS: One hundred and seventy-five boys with 47,XXY between the ages of 0 and 5 years, 11 months completed neurodevelopmental assessments specific to age examining their expressive and receptive language capabilities. Subjects were grouped by treatment (EHT and No-T) and differences were analyzed.
RESULTS: In the age groups of under 12 months, 24–35 months, 36–47 months, and 60–71 months, the EHT group scored significantly higher on expressive language assessments than the No-T group (p = 0.09, p = 0.0002, p = 0.009, and p = 0.02, respectively). In the age groups of under 12 months and 24–35 months, the EHT group scored significantly better on the auditory
comprehension domain of the PLS-4/5 (p = 0.02 and p = 0.05, respectively) than the No-T group.
CONCLUSION: Study data suggest EHT may be essential in optimizing receptive and expressive language development in 47,XXY boys during early childhood, which is critical in fostering reading skills and later academic success.
We are thrilled to continue researching and improving the care for boys with 47,XXY, and appreciate all the families that have contributed to this incredible finding!
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