De Barbieri Zulema, Fernández María Angélica, Newbury Dianne F, Villanueva Pía
Department of Speech language and Hearing Sciences, Faculty of Medicine, Universidad de Chile, Santiago, Chile.
Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
Int J Lang Commun Disord. 2018 May;53(3):643-655. doi: 10.1111/1460-6984.12377. Epub 2018 Mar 25.
It has been reported that the inhabitants of the Chilean Robinson Crusoe Island have an increased frequency of specific language impairment (SLI) or developmental language disorder (DLD).
To explore the familial aggregation of DLD in this community.
METHODS & PROCEDURES: We assessed the frequency of DLD amongst colonial children between the ages of 3 and 8;11 years (50 individuals from 45 nuclear families). Familial aggregation rates of language disorder were calculated by assessing all available first-degree relatives (n = 107, 77 parents, 25 siblings, five half-siblings) of the probands.
OUTCOMES & RESULTS: We found that 71% of the child population performed significantly below expected in measures of phonological production or expressive and receptive morphology. The majority of these children presented with severe expressive and/or receptive language difficulties. One-quarter of language-disordered probands primarily had phonological difficulties. Family members of affected probands experienced a higher risk of language disorder than those of typically developing probands. This increased risk was apparent regardless of non-verbal IQ.
CONCLUSIONS & IMPLICATIONS: The study substantiates the existence of a familial form of speech and language disorder on Robinson Crusoe Island. Furthermore, we find that the familiarity is stable regardless of non-verbal IQ, supporting the recent movement to reduce the importance of non-verbal IQ criterion in DLD diagnoses.
据报道，智利鲁滨逊·克鲁索岛的居民患特定语言障碍（SLI）或发育性语言障碍（DLD）的频率有所增加。
探讨该社区DLD的家族聚集情况。
我们评估了3至8岁11个月的殖民地儿童（来自45个核心家庭的50名个体）中DLD的发生率。通过评估先证者的所有一级亲属（n = 107，77名父母、25名兄弟姐妹、5名单亲兄弟姐妹）来计算语言障碍的家族聚集率。
我们发现，71%的儿童在语音产出或表达性及接受性形态学测量方面表现显著低于预期。这些儿童中的大多数存在严重的表达性和/或接受性语言困难。四分之一的语言障碍先证者主要存在语音困难。受影响先证者的家庭成员比发育正常先证者的家庭成员患语言障碍的风险更高。无论非语言智商如何，这种风险增加都很明显。
该研究证实了鲁滨逊·克鲁索岛上存在一种家族性的言语和语言障碍形式。此外，我们发现这种家族聚集性与非语言智商无关，这支持了最近在DLD诊断中降低非语言智商标准重要性的趋势。
