Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity

Objectives/Hypothesis: The aim of this study was to 1) determine the prevalence of DFNB1 in a cohort of children with prelingual nonsyndromic sensorineural hearing loss (HL), 2) study phenotype/genotype correlations, and 3) establish guidelines for genetic counseling of DFNB1. Study Design: Prospective cohort study. Methods: A total of 119 unrelated children (107 sporadic and 12 familial cases) with prelingual nonsyndromic HL underwent mutational screening for DFNB1 in the noncoding and coding exons of GJB2, in addition to the del(GJB6‐D13S1830) mutation of GJB6. Information regarding demographics, HL, developmental milestones, inner ear high resolution computed tomography, hearing habilitation, and associated phenotypic manifestations were collected in probands with biallelic pathogenic mutations. Results: The prevalence of DFNB1 in cases of prelingual nonsyndromic HL was 26% (25% in sporadic and 50% in familial cases). In regards to ethnicity, 19 probands were white and 12 probands of Hispanic ancestry had a mixed racial origin (black, Native‐American, white). Greater allelic heterogeneity was shown with Hispanics of mixed descent exhibiting 10 of 12 GJB2 allelic variants, whereas whites had 4 of 10 allelic variants (Fisher exact test, P = .033); both ethnic groups had theGJB6 deletion. The frequency of deaf carriers of the most commonly found mutation (c.35delG) was 8% and higher than that of expected for the general population (Fisher exact test, P = .015). The hearing phenotype was variable in terms of degree of impairment (from mild to profound),onset, symmetry and progression, and there was no correlation with any specific genotype class. DFNB1 probandshad normal gross motor development, and the frequency of computed tomography abnormalities of the inner ear was low at 8%. No other specific associated phenotypic manifestations were identified. Conclusions: DFNB1 is the most common identifiable etiology of nonsyndromic prelingual deafness both in sporadic and familial cases in this cohort with ethnic diversity. The greater allelic variability observed in Hispanics and the high frequency of deaf probands carrying a single allelic variant of DFNB1 support extending the screening to noncoding regions of GJB2 and to the remaining DFNB1 locus. Most probands have a congenital HL that is stable, symmetrical and without associated manifestations, but the audiometric profile should not be the only criteria for offering mutational screening of DFNB1 because of the observed variability. These data can be applied to direct the clinical evaluation and effectively counsel families of children with DFNB1.     

ADHD and gender: are risks and sequela of ADHD the same for boys and girls?

BACKGROUND: Research comparing treatment-referred boys and girls with attention-deficit/hyperactivity disorder (ADHD) has yielded equivocal results. Contradictory findings may be associated with differential referral practices or unexplored interactions of gender with ADHD subtypes. METHOD: We examined possible gender differences in ADHD and its subtypes among children aged 4 to 17 in a representative community sample (N = 1896) in Puerto Rico. Caretakers provided information through the Diagnostic Interview Schedule for Children (version IV) and a battery of impairment, family relations, child problems, comorbidity and treatment measures. RESULTS: ADHD was 2.3 times more common in boys than girls, but with one exception there was little evidence that the patterns of associations of ADHD with correlates were different for boys and girls. The exception was school suspension, which was more common among ADHD boys than girls. Additional gender interactions were found when ADHD subtypes were considered. Among those with combined type (n = 50), boys were more likely to be comorbid with mood disorders than girls. For those with the inattentive type (n = 47), girls were more likely to be comorbid with anxiety disorders than boys. CONCLUSIONS: Our findings lend cross-cultural generalizability to recent reports that gender does not interact with correlates for ADHD overall, but that it may play a role in subtypes.     

Chemotherapy or Endocrine Therapy for Metastatic Breast Cancer?

Hispanic women differ from non-Hispanics in breast cancer incidence, stage at diagnosis, and survival. Ethnic differences in genetic makeup, reproductive patterns, diet, socioeconomic status, physical activity, and other unidentified cultural factors may be responsible for the disparity. This study investigated occurrences of p53 tumor suppressor gene mutations in South Florida white Hispanic and white non-Hispanic women with primary breast cancer. Tumor tissues were obtained from a consecutive series of women with breast cancer who underwent breast resection at the Jackson Memorial Hospital, Miami, Florida between 1984 and 1986. A total of 231 women with primary breast cancer, aged 31–85 years, were included in the study. Among them, 64 (27.7%) were white Hispanic and 167 (72.3%) were white non-Hispanic. The majority of the patients were white non-Hispanics (72.3%). Compared to white non-Hispanics, however, white Hispanics had significantly higher proportions of tumors larger than 2cm (53.1% v.s. 28.7%, p = 0.00) as well as larger tumor size at diagnosis (mean: 4.2 v.s. 3.0cm, p = 0.00). The p53 gene mutation rate was significantly lower in white Hispanics than in white non-Hispanics (51.6% v.s. 70.7%, p = 0.01). Furthermore, among node-negative breast cancer patients, after adjustment for tumor size at diagnosis, logistic regression results showed that white Hispanics were 71% less likely than white non-Hispanics to carry p53 mutations (OR = 0.29 and 95% CI = 0.09–0.91). We conclude that white Hispanic women with breast cancer might have lower p53 gene mutation prevalence than white non-Hispanic women.     

Contraceptive knowledge and use among low-income Hispanic immigrant women and non-Hispanic women

BACKGROUND: With the rising influx of Hispanics to the United States, there is an ongoing need to promote health and wellness care to this non-English-speaking, minority population group. Programs, specifically developed to address the unique cultural mores of Hispanics, need to focus on increasing knowledge about health issues, particularly in the area of reproductive health. A study was conducted in Memphis, TN, to examine the differences between low-income Hispanic immigrants' and low-income non-Hispanics' (1) contraceptive use; (2) reproduction and contraception knowledge; as well as (3) the demographic and knowledge factors associated with their choice of contraceptive, in order to better formulate successful educational programs for area Hispanics. STUDY DESIGN: A cross-sectional survey of 226 women, recruited through a federal assistance program in Tennessee, was performed over a 5-month period in 2000 to 2001. Women, between the ages of 18 and 42, were individually interviewed to learn more about their reproduction knowledge and method of contraception. RESULTS: This study found that knowledge about reproduction and contraceptive use was significantly lower among Hispanics than non-Hispanics. Furthermore, contraceptive use was significantly lower among Hispanics than among non-Hispanics. Hispanics were less likely to use the oral contraceptive or have a tubal ligation, preferring injectable contraceptive. Non-Hispanics, who were more likely to use contraceptive methods, were less likely to use injectables, preferring the oral contraceptive. Among Hispanics, knowledge about contraceptives, number of children and marital status were associated with contraceptive use. Among non-Hispanics, only education was associated with contraceptive use. CONCLUSION: Interventions targeting Hispanic immigrants should be developed to increase their knowledge about contraceptive methods.     

Loneliness and negative life events as predictors of hopelessness and suicidal behaviors in hispanics: evidence for a diathesis‐stress model

In the present study, we examined loneliness and negative life events as predictors of suicide risk (viz., hopelessness and suicidal behaviors) in a sample of 160 Hispanic adults. Consistent with expectations, we found loneliness and negative life events to be positively associated with both hopelessness and suicidal behaviors. In addition, results of conducting hierarchical regression analyses indicated that loneliness accounted for significant amounts of variance in both measures of suicide risk, ranging from 24% to 29% of the variance. The inclusion of negative life events as a predictor was found to account for additional unique variance in hopelessness (3%), but not in suicidal behaviors, beyond what was predicted by loneliness. Finally, consistent with a diathesis‐stress model, the Loneliness × Negative Life Events interaction was found to account for an additional 3% of the variance in both suicide risk measures. Implications of the present findings for future research on suicide risk in Hispanics are discussed. © 2010 Wiley Periodicals, Inc. J Clin Psychol 66:1–12, 2010.     

Exploring the relationship between physical health,depressive symptoms,and depression diagnoses in Hispanic dementia caregivers

Objectives: The present study examined the relationship between self-reported physical health, depressive symptoms, and the occurrence of depression diagnosis in Hispanic female dementia caregivers. Participants: Participants were 89 Hispanic female dementia caregivers. Design: This study used a cross-sectional design. Baseline depression and physical health data were collected from participants enrolled in the ‘Reducing Stress in Hispanic Anglo Dementia Caregivers’ study sponsored by the National Institute on Aging. Measurements: Physical health was assessed using the Medical Outcome Study Short Form-36 (SF-36), a one-item self-report health rating, body mass index, and the presence or history of self-reported physical illness. Depressive symptoms were assessed using the Center for Epidemiologic Studies–Depression Scale (CES-D). The occurrence of depression diagnosis was assessed using the Clinical Interview for DSM-IV Axis I Disorders (SCID). Analysis: Multiple linear and logistic regression analysis was used to examine the extent to which indices of physical health and depressive symptoms accounted for variance in participants’ depressive symptoms and depressive diagnoses. Results. Self-reported indices of health (e.g., SF-36) accounted for a significant portion of variance in both CES-D scores and SCID diagnoses. Caregivers who reported worsened health tended to report increased symptoms of depression on the CES-D and increased likelihood of an SCID diagnosis of a depressive disorder. Conclusion. Self-reported health indices are helpful in identifying Hispanic dementia caregivers at risk for clinical levels of depression.     

Prevalence and correlates of mild cognitive impairment among diverse Hispanics/Latinos: Study of Latinos-Investigation of Neurocognitive Aging results

IntroductionWe estimated the prevalence and correlates of mild cognitive impairment (MCI) among middle-aged and older diverse Hispanics/Latinos.MethodsMiddle-aged and older diverse Hispanics/Latinos enrolled (n = 6377; 50–86 years) in this multisite prospective cohort study were evaluated for MCI using the National Institute on Aging–Alzheimer's Association diagnostic criteria.ResultsThe overall MCI prevalence was 9.8%, which varied between Hispanic/Latino groups. Older age, high cardiovascular disease (CVD) risk, and elevated depressive symptoms were significant correlates of MCI prevalence. Apolipoprotein E4 (APOE) and APOE2 were not significantly associated with MCI.DiscussionMCI prevalence varied among Hispanic/Latino backgrounds, but not as widely as reported in the previous studies. CVD risk and depressive symptoms were associated with increased MCI, whereas APOE4 was not, suggesting alternative etiologies for MCI among diverse Hispanics/Latinos. Our findings suggest that mitigating CVD risk factors may offer important pathways to understanding and reducing MCI and possibly dementia among diverse Hispanics/Latinos.     

Use of selected high‐fat foods by Hispanic adults in the Northeastern US

Objective. To add to the limited information of dietary fat intake of US Hispanic adults, in particular for subgroups other than Mexican Americans.

Methods. The frequency of eating 13 high‐fat food items commonly consumed in the US was examined in 665 Hispanic adults 20–74 years old in Connecticut and Long Island, New York, sampled from Spanish‐surname telephone listings and surveyed by telephone in 1992.

Results. Mean estimated fat intake from the 13 items was significantly greater for the 357 men than the 308 women; the largest gender differences were for hamburgers/ cheeseburgers and French fries. Whole milk was an important contributor to the fat intake of persons with the highest fat intakes. In multiple linear regression analyses, age (negative association) and gender, but not education and acculturation (based on language spoken, read and written), were statistically significant predictors of fat intake from the 13 items.

Conclusions. Longitudinal studies using diet diaries are needed in these Hispanic populations.