Baclofen reduces binge eating in a double-blind, placebo-controlled, crossover study.

Baclofen has shown promise in treating substance use disorders and also reduced binge frequency in an open-label trial. This placebo-controlled, double-blind, crossover study further assessed the effects of baclofen on binge eating. Twelve individuals who self-reported binge eating completed the study. Data were collected during a run-in period (no drug or placebo), placebo phase (48 days), and baclofen phase (titrated up to 60 mg daily or the maximum tolerated dose, 48 days). All the participants were exposed to all conditions. Participants completed a binge diary daily, and the Binge Eating Scale (BES), Food Craving Inventory-II (FCI-II), and Hospital Anxiety and Depression Scale (HADS) at regular intervals throughout the study. Baclofen significantly reduced binge frequency relative to placebo and run-in (P<0.05). This confirms results from the previous open-label trial. Baclofen also produced slight, but significant, increases in depression symptomatology as assessed by the HADS. Binge severity (BES scores) and craving (FCI-II scores) were significantly reduced during placebo and baclofen phases, that is both measures exhibited significant placebo effects. Tiredness, fatigue, and upset stomach were the most commonly reported side-effects. These results indicate that baclofen may be a useful treatment for binge eating in some patients.

Uncertainty management and communication preferences related to genetic relativism among families affected by down syndrome, Marfan syndrome, and neurofibromatosis.

Genes hold opportunities for us to look backward and forward in family health and disease incidence. Our beliefs about genes' roles in health form around frameworks relating to personal control, and the influence of social networks and/or religious faith on genetic expression in health. These genetic relativistic frameworks were found to predict levels of illness uncertainty among 541 diagnosed adults and family members affected by neurofibromatosis, Down syndrome, and Marfan syndrome. Participants were recruited and surveyed about their expectations and preferences for communicating about their respective disorder, with illness uncertainty found to predict the desire to communicate about the condition and to manage related uncertainty. The desire to manage uncertainty in ways that foster control and hope partially mediated the relationship between illness uncertainty and communication preferences. Negative feelings about the condition, which were stronger for affected participants than for family members, related to illness uncertainty, the desire to manage uncertainty, and communication preferences, mediating the relationship between illness uncertainty and uncertainty management. Findings contribute to research in illness uncertainty management and have pragmatic implications for the design of counseling and educational materials associated with the genetic conditions considered in this research.

A comparison of the background, needs, and expectations of patients seeking genetic counseling services.

Patient background, needs, and expectations (BNE) can be important predictors and modifiers of the process and outcomes of genetic counseling. We describe the assessment of BNE of 216 genetic counseling clients using the BNE Scale. Twenty-five percent sought reproductive genetic counseling (RGC), 57% sought adult-pediatric genetic counseling (APGC), and 18% sought cancer genetic counseling (CaGC). Analyses of the BNE of these patient groups identified significant differences in general unsureness/uncertainty about their condition (df = 2, F = 3.96, Significance =0.02), beliefs about treatment for the condition (d f= 2, F = 3.352, Significance = 0.04), and interest in support group involvement (df = 2, F =4.6, Significance = 0.01). Respondents who had not had genetic counseling more readily endorsed the desire to address educational issues than those who had previously had genetic counseling (Previous GC: Mean = 4.03, SD = 0.67; No Previous GC: Mean = 4.29, SD = 0.61; t-value; -2.86; P < 0.01). These results suggest that there are significant differences in the BNE of groups of patients seeking genetic counseling. These data support differential genetic counseling goal setting based on practice subspecialty, as well as sustain the requirement of broad based clinical training in genetic counseling. Further, these data provide additional evidence of the reliability and validity of the BNE Scale to characterize groups of individuals eligible for genetic counseling.

The relationship between the genetic counseling profession and the disability community: a commentary.

Since the inception of the field of genetic counseling, the profession has had a tenuous relationship with the disability community. Genetic counselors both offer prenatal diagnostic testing that allows individuals the opportunity to avoid the birth of a child with a disability and they advocate for the rights of individuals who have a disability. Some in the disability rights community have argued that they feel their lives and the lives of the disabled individuals in their families judged by the offer of prenatal genetic diagnosis and by the attitudes of genetic service providers they encounter in clinical settings. Select voices from the disability community fear that the result of developing technologies may contribute to a world less tolerant of disabilities. The available empirical data suggest that genetic counselors do little to counteract these perspectives. Although limited, investigations into the attitudes and practices of genetic counselors suggest that they have a more negative perspective on disabilities than individuals whose lives are directly affected by them and these attitudes may affect their description of disabling conditions in a prenatal setting. The National Society of Genetic Counselors, the organization that represents the profession in the US has more publicly aligned itself with abortion service providers over disease advocacy organizations, thus subjecting itself to the perception of bias. We suggest possible solutions to these criticisms and argue that individually and collectively, genetic counseling professionals should develop and identify opportunities to more fully support and advocate for the needs of a broader spectrum of clients.

Development of a scale to assess the background, needs, and expectations of genetic counseling clients.

Genetic professionals seek to tailor their counseling to meet the background, needs, and expectations (BNE) of their clients. We present the development of a new instrument, the BNE Scale, designed to assess BNE in genetic counseling clients. The initial items for the scale were created based on a review of the literature and clinical experience. The draft scale was piloted tested with 10 subjects, using cognitive interviewing techniques. Based on those results, a revised 82-item-scale was created and posted online. It was completed by 608 adult subjects who have experience with Down syndrome, Marfan syndrome, or neurofibromatosis. Responses were analyzed in aggregate based on clinically relevant item groupings. Exploratory factor analysis was used to refine the item groupings, and these groups were evaluated for reliability and cross-correlations. As a result, 61 items across 16 subscales were retained for the final BNE Scale. Further, the subscales were segregated thematically into four groups: (1) Beliefs which includes the Consequences, Unsureness, Feelings, and Treatment subscales, (2) Social Support which includes the Spousal (or Partner) Support, Family Support, Friend Support, Healthcare Provider Support, Faith/God Support, and Support Group Interest subscales, (3) Needs which includes the Need for Information, Need for Context, and Need for Provider Input subscales, and (4) Expectations which includes the Education, Counseling, and Desired Feelings subscales. These data provide initial support for the BNE Scale as a psychometrically acceptable means to assess the clients' background, needs and expectations of genetic counseling.

Comparison of the background, needs, and expectations for genetic counseling of adults with experience with Down syndrome, Marfan syndrome, and neurofibromatosis.

We describe an analysis of the responses of 605 adults with experience with Down syndrome, Marfan syndrome, or neurofibromatosis (NF) to the BNE Scale, a scale specifically designed to assess the background, needs, and expectations (BNE) of genetic counseling patients. Significant group differences were found. Specifically, the respondents in the Down syndrome group reported more favorable beliefs about the condition and the availability of social support than the respondents in the other groups. Respondents in the NF group reported more unsureness about their condition and a greater need for genetic information than members of the other groups. Notably, having positive feelings about the condition was negatively correlated with support group interest for respondents of the Marfan syndrome group (r = -0.159, P < 0.01). Having an affected child was associated with interest in health provider input (t = -3.4; P = 0.001) and the desire to talk about psychosocial issues (t = -2.9; P = 0.004). However, previous experience with genetic counseling was not found to affect BNE. These results support the usefulness of the BNE Scale to compare the BNE of patient groups, as well as provide important insight into the BNE of individuals seeking counseling about Down syndrome, Marfan syndrome, and NF.

Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma.

Courtesy stigma refers to the stigmatization an unaffected person experiences due to his or her relationship with a person who bears a stigma. Parents of children with genetic conditions are particularly vulnerable to courtesy stigma, but little research has been done to explore this phenomenon. The purpose of this study was to investigate the courtesy stigma experiences of parents of children with Proteus syndrome (PS) and related overgrowth conditions. Thematic analysis of transcripts from 31 parents identified three distinct themes: stigma experiences, social-emotional reactions to stigmatizing encounters, and coping responses. Four types of stigmatizing experiences were identified: intrusive inquires, staring and pointing, devaluing remarks, and social withdrawal. Additionally, we uncovered eight strategies parents used to cope with courtesy stigma: attributing cause, assigning meaning to social exchanges, concealing, withdrawing socially, taking the offensive, employing indifference, instructing and learning from family, and educating others. Parents' choices of strategy type were found to be context dependent and evolved over time. This is the first study to document the adaptive evolution of coping strategies to offset courtesy stigma by parents of children with genetic conditions. These results provide groundwork for genetic counseling interventions aimed at addressing issues of courtesy stigma and further investigation of the phenomenon itself.

Twin gestation pregnancies: genetic counseling and testing experience.

We report on the prenatal genetic counseling and testing experience in 343 pregnancies with twin or higher multiple gestations. By self-report, 8% (27/343) parents of these pregnancies reported meeting with a genetic counselor, and 23% (79/343) elected prenatal genetic testing. The most common testing procedures elected were maternal serum analyte screening and amniocentesis to identify fetuses with aneuploidy or neural tube defects. Use of prenatal genetic testing was correlated with advanced maternal age. No association was found between use of genetic testing and use of OI/ART or the length of time needed to conceive. Forty percent (11/27) of those who met with a genetic counselor opted to decline prenatal testing/screening. These data suggest that although clients with multiple gestation pregnancies would likely benefit from genetic counseling, many are not availing themselves of this service. Implications of these data for the genetic counseling profession are discussed.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We hypothesized that GLI3 mutations that predict a truncated functional repressor protein cause PHS and that functional haploinsufficiency of GLI3 causes GCPS. To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. The patient group consisted of 135 individuals: 89 patients with GCPS and 46 patients with PHS. We detected 47 pathological mutations (among 60 probands); when these were combined with previously published mutations, two genotype-phenotype correlations were evident. First, GCPS was caused by many types of alterations, including translocations, large deletions, exonic deletions and duplications, small in-frame deletions, and missense, frameshift/nonsense, and splicing mutations. In contrast, PHS was caused only by frameshift/nonsense and splicing mutations. Second, among the frameshift/nonsense mutations, there was a clear genotype-phenotype correlation. Mutations in the first third of the gene (from open reading frame [ORF] nucleotides [nt] 1-1997) caused GCPS, and mutations in the second third of the gene (from ORF nt 1998-3481) caused primarily PHS. Surprisingly, there were 12 mutations in patients with GCPS in the 3' third of the gene (after ORF nt 3481), and no patients with PHS had mutations in this region. These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis.