Browsing by Subject "Age of onset"

Now showing 1 - 5 of 5
  • Thumbnail Image
    Item
    APOE-ε4 is associated with earlier symptom onset in LOAD but later symptom onset in EOAD
    (Wiley, 2023) Polsinelli, Angelina J.; Lane, Kathleen A.; Manchella, Mohit K.; Logan, Paige E.; Gao, Sujuan; Apostolova, Liana G.; Neurology, School of Medicine
    Background: We studied the effect of apolipoprotein E (APOE) ε4 status and sex on age of symptom onset (AO) in early- (EO) and late- (LO) onset Alzheimer's disease (AD). Method: A total of 998 EOAD and 2562 LOAD participants from the National Alzheimer's Coordinating Center (NACC) were included. We used analysis of variance to examine AO differences between sexes and APOE genotypes and the effect of APOE ε4, sex, and their interaction on AO in EOAD and LOAD, separately. Results: APOE ε4 carriers in LOAD had younger AO and in EOAD had older AO. Female EOAD APOE ε4 carriers had older AO compared to non-carriers (P < 0.0001). There was no difference for males. Both male and female LOAD APOE ε4 carriers had younger AO relative to non-carriers (P < 0.0001). Conclusion: The observed earlier AO in EOAD APOE ε4 non-carriers relative to carriers, particularly in females, suggests the presence of additional AD risk variants.
  • Thumbnail Image
    Item
    Genetic and childhood trauma interaction effect on age of onset in bipolar disorder: An exploratory analysis
    (Elsevier, 2015-07-01) Anand, Amit; Koller, Daniel L.; Lawson, William B.; Gershon, Elliot S.; Nurnberger, John I.; Psychiatry, School of Medicine
    Introduction This study investigated whether early life trauma mediates genetic effects on the age at onset (AAO) of bipolar disorder. Method Data from the BiGS Consortium case samples (N = 1119) were used. Childhood traumatic events were documented using the Childhood Life Events Scale (CLES). Interaction between occurrence of childhood trauma and common genetic variants throughout the genome was tested to identify single nucleotide polymorphic gene variants (SNPs) whose effects on bipolar AAO differ between individuals clearly exposed (CLES ≥ 2) and not exposed (CLES = 0) to childhood trauma. Results The modal response to the CLES was 0 (N = 480), but an additional 276 subjects had CLES = 1, and 363 subjects reported 2 or more traumatic lifetime events. The distribution of age at onset showed a broad peak between ages 12 and 18, with the majority of subjects having onset during that period, and a significant decrease in age of onset with the number of traumatic events. No single SNP showed a statistically significant interaction with the presence of traumatic events to impact bipolar age at onset. However, SNPs in or near genes coding for calcium channel activity-related proteins (Gene Ontology: 0005262) were found to be more likely than other SNPs to show evidence of interaction using the INRICH method (p < 0.001). Limitations Retrospective ascertainment of trauma and AAO. Conclusion Interaction effects of early life trauma with genotype may have a significant effect on the development and manifestation of bipolar disorder. These effects may be mediated in part by genes involved in calcium signaling.
  • Thumbnail Image
    Item
    ISPAD Clinical Practice Consensus Guidelines 2022: Managing diabetes in preschoolers
    (Wiley, 2022) Sundberg, Frida; deBeaufort, Carine; Krogvold, Lars; Patton, Susana; Piloya, Thereza; Smart, Carmel; Van Name, Michelle; Weissberg-Benchell, Jill; Silva, Jose; diMeglio, Linda A.; Pediatrics, School of Medicine
  • Thumbnail Image
    Item
    Lexical Effects on Spoken Word Recognition by Pediatric Cochlear Implant Users
    (Wolters Kluwer, 1995) Kirk, Karen Iler; Pisoni, David B.; Osberger, Mary Joe; Otolaryngology -- Head and Neck Surgery, School of Medicine
    Objective: The purposes of this study were 1) to examine the effect of lexical characteristics on the spoken word recognition performance of children who use a multichannel cochlear implant (CI), and 2) to compare their performance on lexically controlled word lists with their performance on a traditional test of word recognition, the PB-K. Design: In two different experiments, 14 to 19 pediatric CI users who demonstrated at least some open-set speech recognition served as subjects. Based on computational analyses, word lists were constructed to allow systematic examination of the effects of word frequency, lexical density (i.e., the number of phonemically similar words, or neighbors), and word length. The subjects' performance on these new tests and the PB-K also was compared. Results: The percentage of words correctly identified was significantly higher for lexically "easy" words (high frequency words with few neighbors) than for "hard" words (low frequency words with many neighbors), but there was no lexical effect on phoneme recognition scores. Word recognition performance was consistently higher on the lexically controlled lists than on the PB-K. In addition, word recognition was better for multisyllabic than for momosyllabic stimuli. Conclusions: These results demonstrate that pediatric cochlear implant users are sensitive to the acoustic-phonetic similarities among words, that they organize words into similarity neighborhoods in long-term memory, and they use this structural information in recognizing isolated words. The results further suggest that the PB-K underestimates these subjects' spoken words recognition.
  • Thumbnail Image
    Item
    Psychosocial Outcomes in Long-Term Cochlear Implant Users
    (Wolters Kluwer, 2018-05) Castellanos, Irina; Kronenberger, William G.; Pisoni, David B.; Psychiatry, School of Medicine
    OBJECTIVES: The objectives of this study were to investigate psychosocial outcomes in a sample of prelingually deaf, early-implanted children, adolescents, and young adults who are long-term cochlear implant (CI) users and to examine the extent to which language and executive functioning predict psychosocial outcomes. DESIGN: Psychosocial outcomes were measured using two well-validated, parent-completed checklists: the Behavior Assessment System for Children and the Conduct Hyperactive Attention Problem Oppositional Symptom. Neurocognitive skills were measured using gold standard, performance-based assessments of language and executive functioning. RESULTS: CI users were at greater risk for clinically significant deficits in areas related to attention, oppositional behavior, hyperactivity-impulsivity, and social-adaptive skills compared with their normal-hearing peers, although the majority of CI users scored within average ranges relative to Behavior Assessment System for Children norms. Regression analyses revealed that language, visual-spatial working memory, and inhibition-concentration skills predicted psychosocial outcomes. CONCLUSIONS: Findings suggest that underlying delays and deficits in language and executive functioning may place some CI users at a risk for difficulties in psychosocial adjustment.