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At least 19 recordsLinked to original sources
PubMed1998

Maternal anticipation in Machado-Joseph disease (MJD): some maternal factors independent of the number of CAG repeat units may play a role in genetic anticipation in a Japanese MJD family.

We studied the relationship between the number of CAG repeat units in the MJD1 gene and clinical features of Machado-Joseph disease (MJD) in eight patients from two generations of a Japanese MJD family. Because of lack of characteristic clinical signs of MJD such as dystonia, bulging eyes or facial myokymia, clinical diagnosis of MJD in this family was difficult to make prior to molecular testing for the CAG repeat expansion in the MJD1 gene. All the patients exhibited maternal transmission of MJD, and the intergenerational change in the number of CAG repeat units in the MJD1 gene was very small (+0.5+/-0.3, mean+/-S.E.M., n=4) in spite of marked genetic anticipation (-17.0 years/generation). In the present family, the degree of anticipation per repeat unit in maternal transmissions was much larger than that in maternal transmissions in the other six MJD families. This indicates that some maternal factors other than the increase of the number of CAG repeat units, which is known to be the basis of anticipation, may play a role in genetic anticipation in this MJD family.

Adult↗
PubMed1995

Statistical pitfalls in detecting age-of-onset anticipation: the role of correlation in studying anticipation and detecting ascertainment bias.

Attempts to detect anticipation in datasets have been hampered by two statistical problems: confusion about the role of correlation, and ascertainment bias. We show three things. (1) Correlation and anticipation are two distinct phenomena, such that neither high nor low correlation necessarily reveals anything about anticipation. (2) Nor does correlation analysis (or its cousin, regression analysis) offer a way to detect ascertainment bias, as has been suggested. Demonstration of "regression to the mean" does not necessarily indicate the presence of ascertainment bias, either. (3) Finally, under certain special circumstances, one can test for anticipation without regard for ascertainment bias. However, these circumstances are limited and may prove of little practical value.

Adult↗
PubMed1997

Anticipation or ascertainment bias in schizophrenia? Penrose's familial mental illness sample.

Several studies have observed anticipation (earlier age at onset [AAO] in successive generations) in familial schizophrenia. However, whether true anticipation or ascertainment bias is the principal originating mechanism remains unclear. In 1944 L. S. Penrose collected AAO data on a large, representative sample of familial mental illness, using a broad ascertainment strategy. These data allowed examination of anticipation and ascertainment biases in five two-generation samples of affected relative pairs. The median intergenerational difference (MID) in AAO was used to assess anticipation. Results showed significant anticipation in parent-offspring pairs with schizophrenia (n = 137 pairs; MID 15 years; P = .0001) and in a positive control sample with Huntington disease (n = 11; P = .01). Broadening the diagnosis of the schizophrenia sample suggested anticipation of severity of illness. However, other analyses provided evidence for ascertainment bias, especially in later-AAO parents, in parent-offspring pairs. Aunt/uncle-niece/nephew schizophrenia pairs showed anticipation (n = 111; P = .0001), but the MID was 8 years and aunts/uncles had earlier median AAO than parents. Anticipation effects were greatest in pairs with late-AAO parents but remained significant in a subgroup of schizophrenia pairs with early parental AAO (n = 31; P = .03). A small control sample of other diseases had MID of 5 years but no significant anticipation (n = 9; P = .38). These results suggest that, although ascertainment-bias effects were observed in parent-offspring pairs, true anticipation appears to be inherent in the transmission of familial schizophrenia. The findings support investigations of unstable mutations and other mechanisms that may contribute to true anticipation in schizophrenia.

Adolescent↗
PubMedDate not supplied

The influence of intense exercise-based physical therapy program on back pain anticipated before and induced by physical activities.

BACKGROUND CONTEXT: Pain anticipated before and induced by physical activities has been shown to influence the physical performance of patients with chronic back pain. Limited data exist as to the influence of treatment on this component of pain. PURPOSE: This study attempted to determine if pain anticipated before and induced by physical activities was altered during an exercise-oriented physical therapy program for chronic back pain. STUDY DESIGN/SETTING: Subjects were recruited from three physical therapy sites with similar spine rehabilitation programs that used intense exercise delivered in a group format. During the recruitment period, 70 subjects with chronic low back pain and disability agreed to participate and complied with recommended treatments. The primary outcome measures were anticipated and induced pain as assessed by visual analog scales (VAS) during six tests of back flexibility and strength. Additional outcome measures included the performance levels of these six tests (trunk flexion, extension, straight leg raising, back strength, lifting from floor to waist and waist to shoulder height), global back and leg VAS and Oswestry Low Back Pain Disability Questionnaire scores. METHODS: At evaluation for the spine rehabilitation programs, we recorded the anticipated and induced pain levels associated with the six tests of back function, the performance levels on each test and global pain and disability scores. Subjects then participated in the spine rehabilitation program that consisted of intense exercise delivered up to three times per week, for 2 hours over a period of 6 weeks. All outcome measures were reassessed at discharge. Pre- and posttreatment outcome scores were statistically compared using paired sample t tests and chi-squared test. Spearman correlation coefficients were used to compare anticipated and induced pain results with global back and leg pain VAS scores, Oswestry scores and physical performance levels for each physical test. RESULTS: Most measures of anticipated and induced pain improved between evaluation and discharge. Improvements were noted for global back pain (p<.001), leg pain (p=.001), disability (p<.001) and performance on each physical testing (p<.001) after treatment. Performances on all physical testing correlated with anticipated and induced pain for all tests at evaluation but only for measures of flexibility at discharge. Improvements in global pain and disability correlated with improvements in anticipated and induced pain with physical testing. CONCLUSION: Anticipated and induced pain with physical activities was lessened after physical therapy using exercise. Anticipated and induced pain with physical activities related to physical performance levels, global pain and disability ratings. These findings may help explain how exercise exerts a positive influence on chronic back pain and disability.

Adult↗
PubMed1997

Parasuicide, depression and the anticipation of positive and negative future experiences.

BACKGROUND: Previous research has shown that parasuicides' view of the future is characterized by an absence of anticipation of positive experiences rather than the presence of anticipation of negative experiences. The present study aimed to replicate this finding and examine whether it would also be found in parasuicides who were not depressed. METHOD: Depressed parasuicides (N = 27), non-depressed parasuicides (N = 17) and matched controls (N = 34) were assessed on their anticipation of future positive and negative experiences using an adapted fluency paradigm, where they were given a set time to generate future positive and negative anticipated experiences. RESULTS: Consistent with previous findings, parasuicides showed an overall reduced anticipation of positive experiences and no overall increased anticipation of negative experiences. However, the parasuicides did show evidence of increased negative anticipation for the immediate future. The results for depressed and non-depressed parasuicides were essentially the same. CONCLUSION: Lack of positive anticipation in the absence of increased negative anticipation is a feature of parasuicide. Although this lack of positive anticipation can occur in depression, it appears to be an independent feature of parasuicide.

Adult↗
PubMed2004

Anticipated reactions to genetic testing for hereditary non-polyposis colorectal cancer susceptibility.

Genetic testing for cancer susceptibility (e.g. hereditary non-polyposis colorectal cancer) is available for some families with a history of colon cancer. Our aim was to investigate participants' anticipated emotional and behavioral reactions to genetic testing for colon cancer and whether gender or clinical risk influences these reactions. 437 asymptomatic participants with a colorectal cancer family history completed a questionnaire about anticipated emotions and actions, under different genetic testing scenarios. More women than men anticipated feeling worried, regretful, and angry if tested positive. People at lower-risk anticipated more surprise and disbelief than those at higher-risk. People anticipated feeling more guilt, regret and less relief if they were not tested than if they were. High-risk results were anticipated to increase depression and worry. Most people still wanted screening if at low risk, anticipated leading healthier lifestyles whatever the result, but would make more plans for the future if they were at high risk. Clinical implications are that as anticipated emotional effects of not being tested may be more severe than having a test, people choosing to forgo testing should feel able to reconsider their decision anytime. Most people did not anticipate strong emotional reactions but thought it would change their lifestyle and would like continued clinical surveillance whatever the result.

Attitude to Health↗
PubMed1999

Genetic anticipation and breast cancer: a prospective follow-up study.

Genetic anticipation is characterized by an earlier age of disease onset, increased severity, and a greater proportion of affected individuals in succeeding generations. The discovery of trinucleotide repeat expansion (TRE) mutations as the molecular correlate of anticipation in a number of rare Mendelian neurodegenerative disorders has led to a resurgence of interest in this phenomenon. Because of the difficulties presented to traditional genetics by complex diseases, the testing for genetic anticipation coupled with TRE detection has been proposed as a strategy for expediting the identification of susceptibility genes for complex disorders. In the case of breast cancer, a number of previous studies found evidence consistent with genetic anticipation. It is known that a proportion of such families are linked to either BRCA1 or BRCA2, but no TRE mutations have been identified. It has been shown that the typical ascertainment employed in studies purporting to demonstrate genetic anticipation combined with unadjusted statistical analysis can dramatically elevate the type I error. We re-examine the evidence for anticipation in breast cancer by applying a new statistical approach that appears to have validity in the analysis of anticipation to data ascertained from a recent follow-up of a large prospective cohort family study of breast cancer. Using this approach, we find no statistically significant evidence for genetic anticipation in familial breast cancer. We discuss the limitations of our analysis, including the problem of adequate sample size for this new statistical test.

Adult↗
PubMed2006

Anticipation in families with Hodgkin's and non-Hodgkin's lymphoma in their pedigree.

Anticipation is an earlier onset and/or increasing severity in successive generations. This study was conducted to determine whether anticipation occurs in families that exhibit both Hodgkin's (HD) and non-Hodgkin's (NHL) lymphoma in their pedigrees. Nine published reports of multi-generational lymphoma and 33 previously unreported families with both lymphomas were analysed for evidence of anticipation. The difference between age at onset for each affected related pair was tested against the null hypothesis that there is no difference in age at onset. Differences between disease-free survival in affected generations were determined. These analyses were also conducted separately using only parent - child pairs with an age of onset above 25 years in an effort to avoid ascertainment bias. Age at onset in studied cases was also compared with the HD and NHL series from the Surveillance Epidemiology and End Results (SEER) Program of the US National Cancer Institute. The mean age at onset in the child and parent generations of all case families (60.2 and 35.7 years, respectively) and in the selected pairs (61.5 and 45.6, years) were significantly different (mean difference -24.5 years; P < 0.00001, and -15.9 years, P < 0.00001, respectively). Mean anticipation for parents with HD and children with NHL was -6.8 years (P = 0.01) for the unpublished and -14.4 years (P = 0.002) for the published families (overall anticipation -10.1 years). Mean anticipation for parents with NHL and children with HD was -34.4 years (P < 0.0001) for the unpublished and -32.7 years (P < 0.0001) for the published families (overall anticipation -34.2 years, P < 0.0001). The signed rank test rejected the null hypothesis which stated that there was no difference in age at onset between parents and children for overall, as well as selected pairs (P < 0.00001). The null hypothesis was also rejected for both the parents with HD/children with NHL group and the parents with NHL/children with HD group pairs (P < 0.0001). Age at onset distributions were significantly different for all generations with HD or NHL when compared to the SEER population (P < 0.00001), except for the parents with NHL, which showed no difference. In addition, this study reports four previously unpublished families with three generations of lymphoma in their pedigrees. These data suggest that anticipation occurs in families that exhibit both HL and NHL and that both neoplasms may have a common genetic basis.

Adolescent↗
PubMed1998

Anticipation in Crohn's disease may be influenced by gender and ethnicity of the transmitting parent.

OBJECTIVE: We sought to examine whether anticipation (an earlier age of onset in succeeding generations) is observed in Crohn's disease (CD) patients within the New York metropolitan area, and whether there are differences in the degree of anticipation with respect to gender and ethnicity of the affected parent. METHODS: Sixty-one parent-child pairs both affected by CD were identified; about half of the pairs were of Ashkenazi Jewish descent. An additional 17 pairs of second-degree relatives with CD were also identified. The intergenerational difference in age at diagnosis (AAD) was used to perform regression analysis and the degree of anticipation among subsets of patients separated on the basis of gender and ethnicity of the transmitting parent was determined. RESULTS: The AAD was consistently (90% of the time) lower in the younger member of the 61 parent-child pairs (35.3+/-1.6 yr vs 20.8+/-1.1 yr, p = 0.0001). Furthermore, the degree of anticipation was significantly greater for father-child pairs (20.6+/-3.2 yr) than for mother-child pairs (11.7+/-2.1 yr). However, when the patient population where the parent had an AAD of < 28 was analyzed separately, there was a lack of clear-cut evidence of anticipation in the population as a whole. Only when the population was subdivided by ethnicity was there convincing evidence of anticipation in the Jewish population. CONCLUSION: Ascertainment bias may be responsible for the apparent anticipation observed in the CD population as a whole or in the nonJewish CD subgroup. However, the Jewish CD population displays strong evidence of anticipation even after correction for ascertainment bias.

Adult↗
PubMed2005

Parkin mutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonism.

BACKGROUND: parkin mutations are a common cause of parkinsonism. Possessing two parkin mutations leads to early-onset parkinsonism, while having one mutation may predispose to late-onset disease. This dosage pattern suggests that some parkin families should exhibit intergenerational variation in age at onset resembling anticipation. A subset of familial PD exhibits anticipation, the cause of which is unknown. The aim of this study was to determine if anticipation was due to parkin mutation dosage. METHODS: We studied 19 kindreds that had early-onset parkinsonism in the offspring generation, late-onset parkinsonism in the parent generation, and > or = 20 years of anticipation. We also studied 28 early-onset parkinsonism cases without anticipation. Patients were diagnosed by neurologists at a movement disorder clinic. parkin analysis included sequencing and dosage analysis of all 12 exons. RESULTS: Only one of 19 cases had compound parkin mutations, but contrary to our postulate, the affected relative with late-onset parkinsonism did not have a parkin mutation. In effect, none of the anticipation cases could be attributed to parkin. In contrast, 21% of early-onset parkinsonism patients without anticipation had parkin mutations. CONCLUSION: Anticipation is not linked to parkin, and may signify a distinct disease entity.

Adult↗
PubMed1989

Analgesia and impact induced by anticipation stress: involvement of the endogenous opioid peptide system.

Anticipation of an unavoidable painful stimulation, i.e. anticipation stress, induces analgesia. This analgesia may result from activation of the endogenous opioid peptide system as it is blocked by naloxone. The present paper characterizes the anticipation stress further by following the kinetics of the analgesia rise, the impact of the stress on the stress-sensitive organs and the involvement of the endogenous opioid peptide system in the anticipation stress effects. Adult male rats exposed repeatedly to placing into a conditioning box followed by a painful stimulation develop analgesia almost immediately after a transfer to the box. Anticipation acts as a specific trigger, no other side stressor is effective. Anticipation stress has a significant impact on stress-sensitive organs: weights of the adrenals increase while those of the thymus and spleen decrease. These changes are associated with a significant increase of plasma corticosterone. Blockade of the endogenous opioid system by naloxone before the exposure to anticipation stress potentiates these stress-induced impacts, especially the decrease of weight of the thymus. Plasma corticosterone levels are not affected by naloxone. During the anticipation stress, the amount of opioid receptors, i.e. of [3H]naloxone binding sites, in the hypothalamus, but not in the striatum, decreases. The possible biological role of stress-induced activation of endogenous opioid system, namely the maintenance of the intensity of stress reaction within certain limits and thus the prevention of the self-destructive effects of stress reactions, is discussed.

Analgesia↗
PubMed2004

The fear-inhibited light reflex: importance of the anticipation of an aversive event.

RATIONALE: It has been shown previously that the amplitude of the pupillary light reflex response decreases when subjects anticipate an aversive stimulus (i.e. electric shock), compared to periods when subjects are resting ('fear-inhibited light reflex'). OBJECTIVE: To compare the effects of the anticipation of an electric shock (putative aversive event) and of an acoustic stimulus (putative neutral event) on the light reflex. METHODS: Twelve healthy volunteers participated in a training session and an experimental session. Pupil diameter was monitored with infra-red binocular television pupillometry. The experimental session consisted of 14 blocks of 3 light stimuli. 'Relaxation' (no anticipation) and 'anticipation' (electrical or acoustic stimulus) blocks alternated. Mood and feelings were self-rated on visual analogue scales. RESULTS: The anticipation of the electrical stimulus was associated with increases in initial pupil diameter and subjectively rated 'anxiety' and 'alertness', and a decrease in the amplitude of the pupillary light reflex response, whereas anticipation of the acoustic stimulus was associated with increases in initial pupil diameter and subjective 'alertness' only. CONCLUSIONS: The increase in initial pupil diameter is related to the anticipation of any stimulus, whereas the decrease in the amplitude of the light reflex response is associated with the aversiveness of the anticipated stimulus.

Acoustic Stimulation↗
PubMed1997

Further epidemiological evidence for anticipation in schizophrenia.

Anticipation describes an inheritance pattern within a pedigree in which disease severity increases, and/or age at onset decreases, in successive generations. This phenomenon has been described in different samples of schizophrenic subjects, and could explain many inconsistencies in the inheritability of schizophrenia. Anticipation is, however, subject to numerous and significant biases, partially controlled by different methodologies used in different studies. We analyzed the anticipation effect on an original sample of schizophrenic patients (n = 57) who had at least one other schizophrenic in their family belonging to another generation (father/mother, uncle/aunt, son/daughter). We tested the anticipation effect according to previously published methodologies, such as percentages of parent-child pairs showing negative versus positive anticipation, comparison of anticipation limited to parent-child or uncle-nephew pairs, anticipation analysis on the basis of families with unilineal origins only, and comparison of the age at onset-survival distribution of the two generations. The 31 schizophrenic subjects who belonged to the younger generation had a significantly earlier age at onset (24.58 years) than the 26 schizophrenic subjects who belonged to the older generation (36.46 years). Whatever the method used to control biases, we significantly found earlier age at onset for schizophrenic patients from the younger generation. There is strong evidence for the existence of the anticipation effect in schizophrenia in our sample, as well as in various others, which may elucidate numerous inconsistencies in clinical and epidemiological data which characterize schizophrenia. Looking for expanded trinucleotide repeats is thus the next step to detect the gene(s) that are potentially involved.

Adult↗
PubMed1993

Anticipated stimulant and sedative effects of alcohol vary with dosage and limb of the blood alcohol curve.

Anticipations of alcohol's effects reportedly covary with the amount consumed. Alcohol's stimulant and sedative properties also may contribute to alcohol consumption. Anticipations of stimulant and sedative effects have not been investigated extensively. The present study examined the stimulant and sedative effects subjects anticipated experiencing if they were on the ascending or descending limb of the blood alcohol curve after consuming two or four standard drinks. One hundred sixty-six undergraduates reported anticipating greater stimulant effects than sedative effects on the ascending limb of the blood alcohol curve, and greater sedative effects than stimulant effects on the descending limb. Subjects also reported anticipating larger effects with larger doses. Men tended to anticipate smaller effects than women. These results support the notion that specific anticipated effects vary with dosage and the limb of blood alcohol curve, suggesting that the study of anticipated effects of alcohol should employ these variables.

Adolescent↗
PubMed1997

Genetic anticipation and imprinting in bipolar I illness.

BACKGROUND: The study focused on: (1) the existence of genetic anticipation in a randomly selected sample of bipolar I patients using broad and narrow definitions of the affection status in the parental generation; (2) the relationship between anticipation and the age at investigation in probands and in their relatives; (3) the relationship between anticipation and imprinting. METHOD: One hundred and fifteen bipolar I patients and their first- to third-degree relatives were diagnosed according to DSM-III-R criteria using the Diagnostic Interview for Genetic Studies and the Family Interview for Genetic Studies. RESULTS: Age at onset was found to be 6-10 years younger in probands with affected parents or uncles/aunts. Two-thirds of these families showed positive anticipation under both the broad and the narrow definitions of affection status in the parents' generation. The age at investigation was younger in probands showing positive anticipation. Anticipation was found only in probands inheriting the disorder from the paternal side. CONCLUSIONS: In spite of the inevitable association between young current age and young age at onset, which could result in spurious anticipation effects, our findings suggest that this phenomenon is not the sole cause of observed anticipation.

Adolescent↗