Potter N L, Lazarus J-A C, Johnson J M, Steiner R D, Shriberg L D
Department of Speech and Hearing Sciences, Washington State University-Spokane, Spokane, Washington, USA.
J Inherit Metab Dis. 2008 Aug;31(4):524-32. doi: 10.1007/s10545-008-0877-y. Epub 2008 Jul 12.
This study describes risk factors associated with language impairment in children with classic galactosaemia.
Thirty-three 4-16-year-old participants with classic galactosaemia and a history of speech sound disorders completed a battery of cognitive and language measures and their parents completed a family history questionnaire.
Nine of the sixteen (56%) participants with typical cognitive development and 15 of the 17 (88%) with borderline-low cognitive development had language impairments. Participants with typical cognitive development more often had an expressive language disorder, whereas those with borderline-low cognitive development more often had a mixed receptive-expressive language disorder. Participants with Q188R/Q188R genotypes had increased risk for both cognitive and language impairments. The IQs of younger siblings who did not consume milk postnatally were 10-56 points higher than the IQs of their older siblings with galactosaemia who had consumed milk postnatally. However, 4 of 5 younger siblings who were lactose-restricted from birth had language impairments. Typically-reported risk factors for language disorder, including parental history of speech/learning problems and low parental education level, were not significantly associated with cognitive or language impairments in the present sample of children with galactosaemia.
Children with galactosaemia and speech disorders have a 4-6 times greater risk for language impairment than children with early speech disorders of unknown origin. Early dietary lactose may increase the risk for cognitive and language impairments; however, the lack of significant associations of language impairment with days of milk consumption, and other familial and educational risk factors, is consistent with prenatal causation.
本研究描述了经典型半乳糖血症患儿语言障碍的相关危险因素。
33名4至16岁患有经典型半乳糖血症且有语音障碍病史的参与者完成了一系列认知和语言测试,其父母完成了一份家族史问卷。
16名(56%)认知发育正常的参与者中有9名存在语言障碍,17名(88%)认知发育临界低水平的参与者中有15名存在语言障碍。认知发育正常的参与者更常出现表达性语言障碍,而认知发育临界低水平的参与者更常出现混合性接受-表达性语言障碍。具有Q188R/Q188R基因型的参与者出现认知和语言障碍的风险增加。出生后不食用牛奶的弟弟妹妹的智商比出生后食用牛奶的患有半乳糖血症的哥哥姐姐的智商高10至56分。然而,5名从出生就限制乳糖摄入的弟弟妹妹中有4名存在语言障碍。通常报道的语言障碍危险因素,包括父母的言语/学习问题病史和父母低教育水平,在本半乳糖血症患儿样本中与认知或语言障碍无显著关联。
患有半乳糖血症和言语障碍的儿童出现语言障碍的风险比病因不明的早期言语障碍儿童高4至6倍。早期饮食中的乳糖可能会增加认知和语言障碍的风险;然而,语言障碍与牛奶食用天数以及其他家族和教育危险因素缺乏显著关联,这与产前病因一致。