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儿童瓦解性障碍(CDD):挪威患者人群的症状表现和父母对患儿病情恶化的体验。

Childhood Disintegrative Disorder (CDD): Symptomatology of the Norwegian Patient Population and Parents' Experiences of Patient Regression.

机构信息

University of Oslo, Oslo, Norway.

Oslo University Hospital, Oslo, Norway.

出版信息

J Autism Dev Disord. 2022 Apr;52(4):1495-1506. doi: 10.1007/s10803-021-05023-7. Epub 2021 May 2.

DOI:10.1007/s10803-021-05023-7
PMID:33934283
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8938397/
Abstract

Childhood Disintegrative Disorder (CDD) is a rare and little researched developmental disorder characterised by regression in language and social skills after a period of seemingly normal development until at least the age of 2 years. The study contacted all parents of CDD patients in Norway to assess patient symptomatology and parents' experiences of regression via questionnaire or interview. There were 12 participants. Symptomatology was in-line with previous studies, with universal regression in language and social skills and onset predominantly at 2-4 years. Regression was connected to feelings of 'loss' and uncertainty over the prognosis for CDD patients. The study supported CDD diagnostic criteria and showed that CDD patient regression has profound implications for parental well-being.

摘要

儿童瓦解性障碍(CDD)是一种罕见且研究较少的发育障碍,其特征是在看似正常的发育后出现语言和社交技能的倒退,至少持续到 2 岁。该研究通过问卷或访谈联系了挪威所有 CDD 患者的家长,以评估患者的症状和家长对倒退的体验。共有 12 名参与者。症状与之前的研究一致,语言和社交技能普遍倒退,发病主要在 2-4 岁。倒退与“失落”的感觉以及对 CDD 患者预后的不确定性有关。该研究支持 CDD 的诊断标准,并表明 CDD 患者的倒退对父母的幸福感有深远的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4ec/8938397/52223c228928/10803_2021_5023_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4ec/8938397/52223c228928/10803_2021_5023_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4ec/8938397/52223c228928/10803_2021_5023_Fig1_HTML.jpg

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J Autism Dev Disord. 2019 Nov;49(11):4603-4625. doi: 10.1007/s10803-019-04183-x.
2
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Dev Med Child Neurol. 2019 May;61(5):523-534. doi: 10.1111/dmcn.14126. Epub 2018 Dec 13.
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Prolonged Time Lag to Final Diagnosis of Fragile X Syndrome.脆性 X 综合征最终诊断的时间延长。
J Pediatr. 2018 Feb;193:217-221.e1. doi: 10.1016/j.jpeds.2017.10.008. Epub 2017 Dec 6.
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What impact do questionnaire length and monetary incentives have on mailed health psychology survey response?邮寄健康心理学调查中,问卷长度和金钱激励对回复率有何影响?
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BMC Psychiatry. 2015 Oct 21;15:256. doi: 10.1186/s12888-015-0631-6.
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CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder.脑脊液N-聚糖谱显示,一名表现为儿童期退行性障碍的GM2神经节苷脂贮积症患者存在唾液酸化缺陷。
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