Neurobehavioral Profiles in Individuals with Hyperimmunoglobulin E Syndrome (HIES) and Brain White Matter Hyperintensities

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• 作者：Staci Martin ; Pamela Wolters ; Nia Billings…
• 关键词：Hyperimmunoglobulin E Syndrome ; Job’s Syndrome ; cognitive functioning ; psychological functioning ; quality of life
• 刊名：Journal of Clinical Immunology
• 出版年：2013
• 出版时间：October 2013
• 年：2013
• 卷：33
• 期：7
• 页码：1175-1184
• 全文大小：299KB
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• 作者单位：Staci Martin (1) (5)
  Pamela Wolters (1)
  Nia Billings (2)
  Mary Anne Toledo-Tamula (2)
  Dima A. Hammoud (3)
  Pamela Welch (2)
  Dirk Darnell (4)
  Steven M. Holland (4)
  Alexandra F. Freeman (4)
  
  1. Pediatric Oncology Branch, National Cancer Institute, Bethesda, MD, 20892, USA
  5. 9030 Old Georgetown Road, #107, Bethesda, MD, 20892-8200, USA
  2. Clinical Research Directorate/CMRP, SAIC-Frederick, Inc, Frederick National Laboratory for Cancer Research, Frederick, MD, 21702, USA
  3. Center for Infectious Disease Imaging, Radiology and Imaging sciences, Clinical Center, National Institutes of Health, Bethesda, MD, 20892, USA
  4. Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD, 20892, USA
  
• ISSN：1573-2592

文摘

Purpose Individuals with hyperimmunoglobulin E Syndrome (HIES) have central nervous system abnormalities, including focal white matter hyperintensities (WMH), or unidentified bright objects. This cross-sectional study aimed to describe the cognitive and emotional functioning and quality of life of people with HIES. We also sought to explore the relationship between cognitive functioning and WMHs in this population. Methods Twenty-nine individuals (13 males) with autosomal-dominant HIES (mean age--5.1?years, range 16-5) were administered a comprehensive psychological assessment as part of a natural history protocol. The assessment included measures of global cognitive functioning (Wechsler Adult Intelligence Scale-III), memory (California Verbal Learning Test-II, Wechsler Memory Scale-III), executive skills (Delis Kaplan Executive Function System), and attention (Test of Everyday Attention). Emotional symptoms and quality of life also were assessed. Results All mean cognitive scores were within normal limits. Mean scores on memory and executive functioning measures were significantly lower than Full Scale IQ scores (ps-lt;-05). Substantial percentages of patients self-reported executive skills to be in the clinical range. Patients with fewer (1-0) versus more (21+) WMHs scored significantly better on measures of global cognitive skills, visual-perceptual skills, and working memory. Mean scores on emotional symptom and quality of life measures were in the average range and unrelated to WMHs. Conclusions Global cognitive functioning was average to high average in our sample of individuals with HIES. However, focal brain lesions were associated with lower scores in specific domains. Emotional functioning and quality of life are within normal limits in this sample.