PDF(Pubmed)
Abstract：
Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown. Our study explores the adaptive profile of 37 PMM2-CDG patients, examining its association with parental stress and medical characteristics. Assessment tools included ICARS for the cerebellar syndrome and NPCRS for global disease severity. Behavioral and adaptive evaluation consisted of the Vineland Adaptive Behavior Scale and the Health of the Nation Outcome Scales. Psychopathological screening involved the Child Behavior Checklist and the Symptom Check-List-90-R. Parental stress was evaluated using Parental Stress Index. Results were correlated with clinical features. No significant age or sex differences were found. \'Daily living skills\' were notably affected. Patients severely affected exhibited lower adaptive skill values, as did those with lipodystrophy and inverted nipples. Greater severity in motor cerebellar syndrome, behavioral disturbances and the presence of comorbidities such as hyperactivity, autistic features and moderate-to-severe intellectual disability correlated with greater parental stress. Our study found no decline in adaptive abilities. We provide tools to assess adaptive deficits in PMM2-CDG patients, emphasizing the importance of addressing communication, daily living skills, and autonomy, and their impact on parental stress in clinical monitoring and future therapies.
摘要：
磷酸核苷酸酶缺乏症（PMM2-CDG）导致小脑萎缩共济失调，dysmetria,和智力缺陷。尽管治疗取得了进展，认知和适应性特征仍然未知。我们的研究探讨了37名PMM2-CDG患者的适应性特征，检查其与父母压力和医学特征的关系。评估工具包括用于小脑综合征的ICARS和用于全球疾病严重程度的NPCRS。行为和适应性评估包括Vineland适应性行为量表和国家健康结果量表。精神病理学筛查涉及儿童行为检查表和症状检查表-90-R。使用父母压力指数评估父母压力。结果与临床特征相关。没有发现明显的年龄或性别差异。“日常生活技能”受到显著影响。受影响严重的患者表现出较低的适应性技能值，脂肪营养不良和乳头内翻的患者也是如此。运动小脑综合征的严重程度更高，行为障碍和多动症等合并症的存在，自闭症特征和中度至重度智力障碍与更大的父母压力相关。我们的研究发现适应能力没有下降。我们提供了评估PMM2-CDG患者适应性缺陷的工具，强调解决沟通的重要性，日常生活技能,和自主性,以及它们在临床监测和未来治疗中对父母压力的影响。
