The effect of early hormonal treatment (EHT) on expressive and receptive language capabilities in boys with 47,XXY (Klinefelter syndrome) during infancy and early childhood

Samango‐Sprouse, Carole; Brooks, Michaela; Lasutchinkow, Patricia; Sadeghin, Teresa; Powell, Sherida; Hamzik, Mary Pat; Song, Sophia; Gropman, Andrea

doi:10.1038/s41436-021-01098-w

Cited by 7 publications

(5 citation statements)

References 36 publications

(53 reference statements)

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“…Frequently, boys with 47,XXY present with increased receptive language and vocabulary skills in comparison with their expressive deficits, which are often identifiable as early as infancy. 13,18 However, our findings of commensurate receptive and expressive vocabulary skills in both groups suggest that these vocabulary abilities may be agedependent, with these skills normalizing once they reach school age. Further research is necessary to understand the evolution of these vocabulary capabilities in boys with 47,XXY and its relationship to IQ abilities, phenotypic profile, and behavior profile.…”

Section: Discussionmentioning

confidence: 69%

Novel Neurocognitive Profile in a Minority of Boys with 47,XXY (Klinefelter Syndrome)

Samango‐Sprouse

Hamzik²,

Khaksari³

et al. 2022

J Dev Behav Pediatr

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Introduction: 47,XXY, also known as Klinefelter syndrome, is the most commonly occurring sex chromosomal variation (1:660). The neurocognitive profile of boys with 47,XXY, in addition to verbal abilities, language skills, and general intelligence, has been explored in this study. Methods: Fifty-five participants with 47,XXY were segregated into groups according to their performance on the Wechsler Intelligence Scale for Children (WISC): (1) those with a higher performance intelligence quotient (PIQ) in comparison with their verbal IQ (VIQ) and (2) those with a higher VIQ compared with their PIQ. Two-tailed independent t tests were completed to analyze group differences. Results: Our study results demonstrate novel findings that one-third of subjects have higher verbal capabilities than perceptual skills. Those participants who showed the typical presentation of 47,XXY with increased PIQ in comparison with their VIQ excelled on perceptual and visual spatial subtests on the WISC and on nonverbal IQ on the Leiter International Performance Scale-III. In addition, it was found that expressive and receptive vocabulary skills were commensurate in both groups, which has not been reported previously. Discussion: To the best of our knowledge, this is the first study to identify an alternative profile of 47,XXY with increased verbal capabilities in comparison with perceptual skills. In addition, previous research has found that boys with 47,XXY often show increased receptive vocabulary skills in comparison with their expressive vocabulary skills early in life. Therefore, our findings of commensurate expressive and receptive vocabulary skills suggest that age may be an impactful factor in vocabulary development. Further research is necessary to determine individualized treatment options for these patients, focusing on the specific cognitive profile they present.

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Section: Discussionmentioning

confidence: 69%

Novel Neurocognitive Profile in a Minority of Boys with 47,XXY (Klinefelter Syndrome)

Samango‐Sprouse

Hamzik²,

Khaksari³

et al. 2022

J Dev Behav Pediatr

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“…Use of testosterone in the neonatal period for infants with 47,XXY remains controversial and is not the standard of care. Previous work has suggested a benefit for neurodevelopmental outcomes, but to date, this has not been borne out in head‐to‐head trials 3,56,57 …”

Section: Xxy (Klinefelter Syndrome)mentioning

confidence: 99%

Prenatal diagnosis of sex chromosome aneuploidy—What do we tell the prospective parents?

et al. 2022

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Sex chromosome aneuploidy (SCA) can be detected on prenatal diagnostic testing and cell free DNA screening (cfDNA). High risk cfDNA results should be confirmed with diagnostic testing. This summary article serves as an update for prenatal providers and assimilates data from neurodevelopmental, epidemiologic, and registry studies on the most common SCA. This information can be helpful for counseling after prenatal diagnosis of sex chromosome aneuploidy. Incidence estimates may be influenced by ascertainment bias and this article is not a substitute for interdisciplinary consultation and counseling. Key points What is already known about this topic?� Sex chromosome aneuploidy (SCA) can be detected on prenatal diagnostic testing and cell free DNA screening (cfDNA).� High risk cfDNA results should be confirmed with diagnostic testing. What does this study add?� This summary article serves as an update for prenatal providers and assimilates data from neurodevelopmental, epidemiologic, and registry studies on the most common SCA.� This information can be helpful for counseling after prenatal diagnosis of sex chromosome aneuploidy.

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“…The two cohorts completed comprehensive age-appropriate expressive and receptive language assessments. The results indicated that there is a positive association between early hormonal treatment and improved language capabilities [18]. Another study explored neuromotor capabilities in boys with 47,XXY from birth to adulthood in relation to early hormonal treatment.…”

Section: Introductionmentioning

confidence: 99%

“…EHT includes three injections, once per month, of 25 mg of testosterone enanthate between two and twenty-four weeks of age, while HBT consists of three injections, once monthly, of 50 mg of testosterone enanthate between five and eight years old [16,17]. Though not a direct focus of this study, hormonal replacement therapy has been associated with improving the overall neurodevelopment of boys with 47,XXY, including cognitive development, expressive and receptive language development, motor development, and working memory skills [16][17][18][19].…”

Section: Introductionmentioning

confidence: 99%

“…One study suggests that early hormonal treatment is effective at mitigating the language-based learning disabilities that are associated with 47,XXY [18]. This study explored auditory comprehension, expressive ability, and verbal intelligence in two cohorts of boys with 47,XXY: individuals who received early hormonal treatment, and individuals who had not.…”

Section: Introductionmentioning

confidence: 99%

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The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age

Hamzik¹,

Gropman

Brooks³

et al. 2023

Genes

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47,XXY, also known as Klinefelter syndrome, is the most commonly occurring sex chromosomal aneuploidy (SCA). Hormonal replacement therapy (HRT) has been associated with improved neurodevelopmental capabilities in boys with 47,XXY, although studies investigating HRT’s possible positive effect on behavioral outcomes are scarce. This study explores the association between behavioral outcomes and HRT in boys ages 7–12. Patients were divided into 4 groups based on HRT status: untreated, early hormonal treatment (EHT), hormonal booster therapy (HBT), and both EHT and HBT. Analysis of Variance (ANOVA) and Kruskal–Wallis tests were conducted to determine group differences on the Child Behavior Checklist (CBCL) and the Behavior Rating Inventory of Executive Function (BRIEF). The treated groups were found to have better scores in emotional control, initiative, organization of materials, behavioral rating index, metacognition index, and global executive composite than the untreated group on the BRIEF. On the CBCL, the treated groups presented better scores for somatic complaints, social problems, thought problems, attention problems, aggressive behavior, internalizing problems, total problems, affective problems, somatic problems, ADHD problems, oppositional defiant problems, and sluggish problems in comparison to the untreated group. These results offer evidence that HRT, specifically the combination of both EHT and HBT, may be successful in mitigating some undesirable behavioral outcomes. Further research is necessary to determine the efficacy of the combination of EHT and HBT regarding dosage, specific ages, and long-term benefits.

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The effect of early hormonal treatment (EHT) on expressive and receptive language capabilities in boys with 47,XXY (Klinefelter syndrome) during infancy and early childhood

Cited by 7 publications

References 36 publications

Novel Neurocognitive Profile in a Minority of Boys with 47,XXY (Klinefelter Syndrome)

Novel Neurocognitive Profile in a Minority of Boys with 47,XXY (Klinefelter Syndrome)

Prenatal diagnosis of sex chromosome aneuploidy—What do we tell the prospective parents?

The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age

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