title: Neurobehavioral profiles in individuals with hyperimmunoglobulin E Syndrome (HIES) and brain white matter hyperintensities.
abstract: OBJECTIVE
  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 = 35.1 years, range 16-55) 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 < .05). Substantial percentages of patients self-reported executive skills to be in the clinical range. Patients with fewer (1-20) 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.
authors: Pediatric Oncology Branch, National Cancer Institute, Bethesda, MD, 20892, USA, martins@mail.nih.gov.
authors: Staci
authors: S
authors: Martin
authors: Pamela
authors: P
authors: Wolters
authors: Nia
authors: N
authors: Billings
authors: Mary Anne
authors: MA
authors: Toledo-Tamula
authors: Dima A
authors: DA
authors: Hammoud
authors: Pamela
authors: P
authors: Welch
authors: Dirk
authors: D
authors: Darnell
authors: Steven M
authors: SM
authors: Holland
authors: Alexandra F
authors: AF
authors: Freeman
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D003071:Cognition; D003430:Cross-Sectional Studies; D004644:Emotions; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007589:Job Syndrome / Q000276:immunology* / Q000523:psychology*; D056784:Leukoencephalopathies / Q000276:immunology* / Q000523:psychology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D011788:Quality of Life; D011877:Radionuclide Imaging; D011795:Surveys and Questionnaires; D055815:Young Adult
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