van de Loo K F E, van Dongen L, Mohamed M, Gardeitchik T, Kouwenberg T W, Wortmann S B, Rodenburg R J T, Lefeber D J, Morava E, Verhaak C M
Department of Medical Psychology, Radboud University Medical Centre, Nijmegen, The Netherlands.
JIMD Rep. 2013;11:139-48. doi: 10.1007/8904_2013_233. Epub 2013 Jun 4.
Congenital disorders of glycosylation (CDG) form a group of inherited metabolic diseases. Although the clinical presentation shows extreme variability, the nervous system is frequently affected. Several parents of our patients diagnosed with CDG reported behavioral problems, including mood swings, depressive behavior, and anxiety. This raised the question whether patients with CDG have an increased risk for socio-emotional problems.
We evaluated 18 children with confirmed CDG. The Child Behavior Checklist (CBCL) was used to screen for socio-emotional problems. To determine the disease progression and severity in CDG, the Nijmegen Paediatric CDG Rating Scale (NPCRS) was used. RESULTS were compared to "norm scores" and to children with mitochondrial disorders and children with other chronic metabolic disorders with multisystem involvement.
RESULTS showed a high prevalence of socio-emotional problems in children with CDG. Mean total scores, scores on withdrawn/depressed behavior, social problems, and somatic complaints were significantly increased. More than two thirds of our CDG patients have abnormal scores on CBCL. The mean score on social problems was significantly higher compared to our two control groups of patients with other chronic metabolic disorders.
Patients with CDG have an increased risk of developing socio-emotional problems. A standard screening for psychological problems is recommended for the early detection of psychological problems in CDG patients.
糖基化先天性疾病（CDG）是一组遗传性代谢疾病。尽管临床表现具有极大的变异性，但神经系统常受影响。我们诊断为CDG的几位患者的家长报告了行为问题，包括情绪波动、抑郁行为和焦虑。这就提出了一个问题，即CDG患者出现社会情感问题的风险是否增加。
我们评估了18名确诊为CDG的儿童。使用儿童行为量表（CBCL）筛查社会情感问题。为了确定CDG的疾病进展和严重程度，使用了奈梅亨儿科CDG评定量表（NPCRS）。将结果与“常模分数”以及线粒体疾病患儿和其他累及多系统的慢性代谢疾病患儿进行比较。
结果显示CDG患儿中社会情感问题的患病率很高。平均总分、退缩/抑郁行为得分、社交问题得分和躯体主诉得分均显著升高。超过三分之二的CDG患者CBCL得分异常。与我们另外两组患有其他慢性代谢疾病的患者对照组相比，社交问题的平均得分显著更高。
CDG患者出现社会情感问题的风险增加。建议对CDG患者进行心理问题的标准筛查，以便早期发现心理问题。
