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Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.
Orphanet Journal of Rare Diseases ( IF 3.4 ) Pub Date : 2020-02-07 , DOI: 10.1186/s13023-019-1277-0
Mendy M Welsink-Karssies 1 , Kim J Oostrom 2 , Merel E Hermans 3 , Carla E M Hollak 4 , Mirian C H Janssen 5 , Janneke G Langendonk 6 , Esmee Oussoren 7 , M Estela Rubio Gozalbo 8 , Maaike de Vries 9 , Gert J Geurtsen 3 , Annet M Bosch 1
Affiliation  

BACKGROUND Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment. Available literature primarily reports on general intellectual abilities and shows a substantially lower Full Scale Intelligence Quotient (FSIQ) in CG patients than in the general population. Both problems in social functioning as well as internalizing problems are often reported in CG patients. The combination of intelligence, cognitive functioning, behavior and social functioning has not been studied systematically in CG patients. METHODS To determine if CG patients demonstrate a specific neuropsychological and psychosocial profile, we investigated intelligence, functioning on multiple cognitive domains, behavior and social functioning with a comprehensive neuropsychological test battery and questionnaires (self- and proxy-reported). RESULTS The data of 48 patients, aged 4-47 years are reported. FSIQ ranged from 45 to 103 (mean 77 ± 14). A negative correlation between age and FSIQ was demonstrated (p = 0.037) which resulted directly from the inclusion of four young 'milder' patients detected by newborn screening (NBS) with an expected better clinical outcome. Compared to normative data, patients had significantly lower but highly variable scores on all cognitive domains, especially on tests requiring mental speed. In the context of the FSIQ, 43% of the cognitive test results exceeded IQ based expectations. Overall, the patients' scores on social functioning were in the normal range but internalizing problems were frequently reported. In our cohort, an early initiation of dietary treatment due to NBS or family screening did not result in a more favorable neuropsychological outcome. CONCLUSIONS In this study, we demonstrated that as a cohort, CG patients have a below average intelligence and impaired cognitive functioning without a distinctive neuropsychological profile. The effect of age on neurocognitive functioning should be assessed in longitudinal studies. Social functioning was not impaired, but patients may be at risk for internalizing problems. Considering the large variability in cognitive, behavioral and social functioning and the finding that cognitive outcomes may exceed IQ based expectations, an individual evaluation and follow-up is warranted in all CG patients to ensure timely support if needed.

中文翻译:

古典半乳糖血症:超出智力能力的神经心理学和社会心理功能。

背景技术尽管早期诊断和治疗,古典半乳糖血症(CG)患者经常出现长期并发症,例如认知障碍。现有文献主要报道了一般智力水平,并且显示出CG患者的全面智能商数(FSI)明显低于一般人群。在CG患者中,经常报告社会功能和内在化问题。尚未对CG患者进行智力,认知功能,行为和社交功能的组合研究。方法为了确定CG患者是否表现出特定的神经心理学和社会心理特征,我们调查了在多个认知领域起作用的智力,行为和社交功能,以及全面的神经心理学测试和问卷(自我报告和代理报告)。结果报道了48例年龄在4-47岁的患者的数据。FSIQ范围从45到103(平均77±14)。年龄与FSIQ之间呈负相关(p = 0.037),这直接归因于纳入了四名通过新生儿筛查(NBS)发现的年轻“较轻”患者,其预期的临床结果更好。与规范数据相比,患者在所有认知领域的得分均明显较低,但变化很大,尤其是在需要智力测验的测试中。在FSIQ中,有43%的认知测试结果超出了基于IQ的期望。总体而言,患者的社交功能得分在正常范围内,但经常报告内在化问题。在我们的队列中,由于NBS或家庭筛查而提早开始饮食治疗并没有带来更好的神经心理学结果。结论在这项研究中,我们证明了作为一个队列,CG患者的智力低于平均水平,并且认知功能受损,并且没有明显的神经心理学特征。在纵向研究中应评估年龄对神经认知功能的影响。社交功能并未受到损害,但患者可能有内在化问题的风险。考虑到认知,行为和社交功能的巨大差异,以及认知结果可能超出基于智商的期望的发现,所有CG患者均应进行个体评估和随访,以确保在需要时提供及时的支持。由于NBS或家庭筛查而提早开始饮食治疗并没有取得更好的神经心理学结果。结论在这项研究中,我们证明了作为一个队列,CG患者的智力低于平均水平,并且认知功能受损,并且没有明显的神经心理学特征。在纵向研究中应评估年龄对神经认知功能的影响。社交功能并未受到损害,但患者可能有内在化问题的风险。考虑到认知,行为和社交功能的巨大差异,以及认知结果可能超出基于智商的期望的发现,所有CG患者均应进行个体评估和随访,以确保在需要时提供及时的支持。由于NBS或家庭筛查而提早开始饮食治疗并没有取得更好的神经心理学结果。结论在这项研究中,我们证明了作为一个队列,CG患者的智力低于平均水平,并且认知功能受损,并且没有明显的神经心理学特征。在纵向研究中应评估年龄对神经认知功能的影响。社交功能并未受到损害,但是患者可能有内在化问题的风险。考虑到认知,行为和社交功能的巨大差异,以及认知结果可能超出基于智商的期望的发现,所有CG患者均应进行个体评估和随访,以确保在需要时提供及时的支持。结论在这项研究中,我们证明了作为一个队列,CG患者的智力低于平均水平,并且认知功能受损,并且没有明显的神经心理学特征。在纵向研究中应评估年龄对神经认知功能的影响。社交功能并未受到损害,但患者可能有内在化问题的风险。考虑到认知,行为和社交功能的巨大差异,以及认知结果可能超出基于智商的期望的发现,所有CG患者均应进行个体评估和随访,以确保在需要时提供及时的支持。结论在这项研究中,我们证明了作为一个队列,CG患者的智力低于平均水平,并且认知功能受损,并且没有明显的神经心理学特征。在纵向研究中应评估年龄对神经认知功能的影响。社交功能并未受到损害,但患者可能有内在化问题的风险。考虑到认知,行为和社交功能的巨大差异,以及认知结果可能超出基于智商的期望的发现,所有CG患者均应进行个体评估和随访,以确保在需要时提供及时支持。在纵向研究中应评估年龄对神经认知功能的影响。社交功能并未受到损害,但患者可能有内在化问题的风险。考虑到认知,行为和社交功能的巨大差异,以及认知结果可能超出基于智商的期望的发现,所有CG患者均应进行个体评估和随访,以确保在需要时提供及时支持。在纵向研究中应评估年龄对神经认知功能的影响。社交功能并未受到损害,但患者可能有内在化问题的风险。考虑到认知,行为和社交功能的巨大差异,以及认知结果可能超出基于智商的期望的发现,所有CG患者均应进行个体评估和随访,以确保在需要时提供及时的支持。
更新日期:2020-02-07
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