检索结果-南通市图书馆

How different is early-onset childhood disintegrative disorder from autistic disorder with speech loss?

Open Journal of Psychiatry 2013年第2期3卷 39-45页

作者： Hiroshi Kurita Kanna Inoue Department of Child Psychiatry Nerima Welfare Center for Handicapped Persons Tokyo Japan Department of Child Psychiatry Zenkoku Ryoiku Sodan Center Tokyo Japan

To examine the difference between early-onset (< age 3) childhood disintegrative disorder (CDD) and autistic disorder with speech loss (ADSL), 8 children with early-onset CDD (mean age = 7.6 years, SD = 3.8;6 males) w... 详细信息

To examine the difference between early-onset (disintegrative disorder (CDD) and autistic disorder with speech loss (ADSL), 8 children with early-onset CDD (mean age = 7.6 years, SD = 3.8;6 males) were compared with 92 age and gender-ratio comparable children with ADSL (mean age = 6.8 years, SD = 4.1;70 males) on 24 variables not directly related to the key features of CDD (regression after normal development for at least the first 2 years after birth). Compared with the ADSL group, the early-onset CDD group had a tendency to have a higher rate of a psychosocial event before speech loss (SL) (early-onset CDD, 75.0% vs ADSL, 37.0%, p = 0.057;effect size (phi) = 0.211, p < 0.05);a significantly higher rate of fearfulness during SL (62.5% vs 4.3%, p = 0.000;phi = 0.551, p < 0.05);and a tendency to have a higher rate of epilepsy (25.0% vs 3.3%, p = 0.050;phi = 0.271, p < 0.05), a tendency to have a lower rate of the Childhood Autism Rating Scale-Tokyo Version (CARS-TV) total score ≥ 30 (75.0% vs 95.7%, p = 0.072;phi = 0.236, p < 0.05), and a significantly lower rate of CARS-TV item 2 (imitation) score ≥ 2 (50.0% vs 82.6%, p = 0.049;phi = 0.221, p < 0.05) on the first visit. The two groups did not exhibit any significant difference in the other 19 variables. The findings of no significant difference in the great majority and a significant difference in the small minority of the 24 variables between the two groups support integrating CDD into regressive autism spectrum disorder and studying CDD as its prototypical form.

关键词： Autistic Disorder Autism Spectrum Disorder (ASD) Childhood disintegrative Disorder Diagnosis Regression

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Two cases of variant late infantile ceroid lipofuscinosis in Jordan

引用

World Journal of Clinical Cases 2019年第2期7卷 203-208页

作者： Omar Nafi Bashar Ramadan Olaf Riess Rebecca Buchert Tawfiq Froukh Department of Pediatrics Faculty of Medicine Mutah University Institute of Medical Genetics and Applied Genomics Rare Disease Center University of Tübingen Department of Biotechnology and Genetic Engineering Philadelphia University

BACKGROUND Late infantile ceroid lipofuscinosis is a rare neurodegenerative disorder that appears between the ages of 2 and 4 years and is difficult to diagnose. In this report we present two sisters with this condition, and the clinical course consisted of delayed developmental skills initially and later regression of previously acquired skills. The cases were initially considered as childhood disintegrative disorder(CDD); however, when whole exome sequencing(WES) genetic testing was done, they proved to be variant late infantile ceroid lipofuscinosis. This is the first report from *** SUMMARY Clinical presentation included developmental delay and initially speech delay,followed by lose of sphincter control. Motor development was normal until 4 years of age, then they developed ataxia(fear of going downstairs) and weakness while walking. Atonic and myoclonic seizures become intractable, and this was followed by inability to stand or sit and loss of expressive language. In addition to complete blood count test, liver function test, kidney function test, serum electrolyte test, and blood sugar test, serum amino acid profile, B12 level test,thyroid function test, and a brain computed tomography scan were also *** electroencephalogram showed a generalized spike and wave pattern, and magnetic resonance imaging showed little to no abnormalities. After dealing with the cases as CDD, WES testing proved a final diagnosis of variant late infantile ceroid lipofuscinosis. Current treatment is anti-epileptic drugs and supportive care at home, and they are now in vegetative *** This report highlights the importance of WES for the identification of genetic diseases, especially neurodegenerative disorders.

关键词： Ceroid lipofuscinosis Childhood disintegrative disorder Lysosomal storage disorders Neurodegenerative disorders Variant late infantile Case report

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：