49,XXXXY is the rarest X and Y chromosomal variation and is frequently characterized by expressive and receptive language dysfunction, low muscle tonus, and intellectual deficits. Due to the low incidence of this disorder, comprehensive studies analyzing the specific aspects of the speech and language phenotype in these boys have been uncommon. This is the first in-depth investigation of the speech and language profiles in a large cohort of boys with 49,XXXXY. Based on the clinical judgment of speech and language pathologists, there was an increased incidence (91.8%) of Childhood Apraxia of Speech (CAS), which has not been previously described in this disorder. In preschool boys, some significant differences were demonstrated between boys who received early hormonal treatment (n = 16) and untreated boys (n = 4) on the language scales (p = .047) on the Bayley Scales of Infants and Toddlers, as well as significant differences between treated (n = 13) and untreated boys (n = 8) on the Expressive One Word Picture Vocabulary Test (p = .008). No significant differences between treatment groups were found in school age children, however, treated groups demonstrated less discrepancies between expressive and receptive language. More research and larger samples are needed to determine the extent of the impact of testosterone treatment on boys with 49,XXXXY. This study identifies CAS as a potential explanation for the significant expressive language dysfunction and subsequent behavioral dysfunction. These findings may assist in facilitating more targeted treatment and improved outcomes for boys with 49,XXXXY.

中文翻译：

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49,XXXXY 综合征儿童的言语和语言发展

49,XXXXY 是最罕见的 X 和 Y 染色体变异，通常以表达和接受语言功能障碍、低肌肉紧张和智力缺陷为特征。由于这种疾病的发生率低，分析这些男孩言语和语言表型特定方面的综合研究并不常见。这是对一大群 49,XXXXY 男孩的言语和语言特征的首次深入调查。根据言语和语言病理学家的临床判断，儿童言语失用症 (CAS) 的发生率增加 (91.8%)，这在这种疾病中以前没有被描述过。在学龄前男孩中，接受早期激素治疗的男孩（ n  = 16）和未接受激素治疗的男孩（n = 16）之间存在一些显着差异。n  = 4) 在贝利婴幼儿量表上的语言量表 ( p  = .047)，以及 在表达性单字图片词汇表上接受治疗的男孩 (n = 13) 和未经治疗的男孩 (n = 8)之间 的显着差异测试（p = .008)。在学龄儿童中未发现治疗组之间的显着差异，但是，治疗组表现出表达性和接受性语言之间的差异较小。需要更多的研究和更大的样本来确定睾酮治疗对 49,XXXXY 男孩的影响程度。本研究将 CAS 确定为显着表达性语言功能障碍和随后的行为功能障碍的潜在解释。这些发现可能有助于促进更有针对性的治疗并改善 49,XXXXY 男孩的预后。