[Show abstract][Hide abstract] ABSTRACT: We describe a patient who was clinically diagnosed with familial early-onset Alzheimer disease (AD) carrying both the E318G
substitution in presenilin 1 (PSEN1) and an insertion of 7 octapeptide coding repeats in the prion protein gene (PRNP). Neuropathological examination revealed elongated cerebellar prion protein deposits in the absence of AD pathology. Further
analysis of other family members showed that the Creutzfeldt-Jakob disease phenotype in this family was caused solely by the
PRNP insertion. This observation is consistent with our previous finding that PSEN1 E318G is not causally related to AD.
Journal of Neurology 04/2012; 247(5):364-368. · 3.84 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Measurement of striatal volume using magnetic resonance imaging (MRI) provides a marker of striatal degeneration in Huntington disease (HD). Recent evidence suggests that diffusion-weighted MRI (DWI) may also detect striatal damage in HD. Here, we compared the sensitivities of volumetric MRI and DWI at distinguishing 10 patients with early symptomatic HD from 12 age-matched controls. Additionally, we assessed longitudinal changes in striatal volume and diffusivity in 8 of the HD patients over a 2-year period. At baseline, HD patients had significantly smaller volumes and significantly higher trace of the diffusion coefficient (Trace(D)) values of putamen and caudate than controls, but the volume differences were relatively larger than the Trace(D) differences. Putaminal and caudate volumes were outside the normal range in 9 of 10 HD patients, whereas Trace(D) values of putamen and caudate were abnormal in 8 and 6 of 10 HD subjects, respectively. During 2-year follow-up, there was significant volume loss of HD putamen (mean change: -8.0%) and caudate (mean change: -12.7%). By contrast, longitudinal Trace(D) changes of putamen (mean change: 4.0%) and caudate (mean change: 3.8%) did not reach statistical significance. Thus, volumetric MRI seems more sensitive to striatal degeneration in early symptomatic HD than DWI.
Journal of Neurology 02/2009; 256(1):109-14. · 3.84 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Turning is an impaired activity in persons with Parkinson's disease (PwPD). The current study examines the turning characteristics in PwPD (9 freezers and 10 nonfreezers) and 9 controls, and explores the effect of rhythmic auditory cues while turning. Turning parameters were collected from a 180 degrees left U-turn during a noncued and a cued condition, using a 3D measuring system. Auditory cues were supplied with a metronome at a rhythm equaling the subject's comfortable step frequency during straight line walking. Results showed that in contrast to controls, PwPD used a wider turning-arc and took smaller, narrower steps. In addition, they demonstrated a higher Coefficient of Variation (CV) of step duration (6.92%) compared to controls (4.88%, P < 0.05). The "wide-arc" turning strategy of PwPD was more prominent in freezers than in nonfreezers. Auditory cues reduced the CV of step duration in PwPD (both freezers and nonfreezers) during turning (from 6.92 to 6.00%, P < 0.05). In summary: Cueing reduced the gait-timing variability during turning, but PwPD maintained a wider arc to turn compared with controls.
Movement Disorders 10/2007; 22(13):1871-8. · 5.63 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The aim of this study was to describe reproductive decisions in mutation carriers after predictive testing for Huntington's disease (HD) and to identify factors that play a role in decision-making. In 1987-2004, 245 individuals received a predictive test result; 89 of them were carriers and seven received an equivocal result. Quantitative data on reproductive behaviour have been collected during all follow-up contacts. The follow-up time in this study was 1-16 years (mean: 7.1 years). Qualitative data on reproductive decision-making have been collected by the means of semistructured interviews during the 5-year follow-up study. For 46 carriers and two persons with an equivocal result, family planning was one of the motives for predictive testing. In this group, slightly more than half of the carriers (58%) had chosen to have children with prenatal diagnosis or preimplantation genetic diagnosis and about one in three (35%) decided to have no children anymore after the test. A minority (7%) was undecided or had no children for other reasons. Factors playing a role in the decision-making process were the carrier's sex, ethical issues about PD and PGD, the strength of the desire to have children, illness representations including personal experiences with HD in the family and the technological imperative. Some of these elements were in conflict and induced ambivalence towards reproductive choices. The results illustrate the complexity of the decision-making process and the necessity of in-depth counselling. Counselling should pay special attention to conflicting values and beliefs and to all kinds of pressure.
European Journal of HumanGenetics 05/2007; 15(4):453-62. · 4.23 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: To study the effect of rhythmic auditory cues on gait in Parkinson's disease subjects with and without freezing and in controls.
A volunteer sample of 20 patients (10 freezers, 10 non-freezers) and 10 age-matched controls performed five randomized cued walking conditions in a gait-laboratory. Auditory cues were administered at baseline frequency, at an increased step frequency of 10 and 20% above baseline and at a decreased step frequency of 10 and 20% below baseline. Mean step frequency, walking speed, stride length and double support duration were collected.
Rhythmical auditory cueing induced speed changes in all subjects. Stride length was not influenced by rhythmical auditory cues in controls, whereas patients showed a larger stride length in the -10% condition (p < 0.01). Freezers and non-freezers showed the same response to rhythmical auditory cues. Within group analysis for stride length showed different cueing effects. Stride length decreased at the +10% condition for freezers (p < 0.05), whereas it increased for non-freezers.
This study points to fact that physiotherapists might need to carefully adjust the cueing frequency to the needs of patients with and without freezing. On the basis of the present results we recommend to lower the frequency setting for freezers, whereas for non-freezers an increase of up to +10% may have potential therapeutic use.
Disability and Rehabilitation 07/2006; 28(11):721-8. · 1.84 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Clinical differential diagnosis in parkinsonism can be difficult especially at early stages. We investigated whether combined perfusion and dopamine transporter (DAT) imaging can aid in the differential diagnosis of parkinsonian disorders: idiopathic Parkinson's disease (IPD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), dementia with Lewy bodies (LBD), and essential tremor (ET).
One hundred twenty-nine patients were studied, retrospectively (69 males; 24 MSA, 12 PSP, 8 LBD, 27 ET, and 58 IPD; mean disease duration, 3.5 +/- 3.7 y). Diagnosis was based on established clinical criteria after follow-up of 5.5 +/- 3.8 y in a university specialist movement disorders clinic. Group characterization was done using a categoric voxel-based design and, second, a predefined volume-of-interest approach along Brodmann areas (BA) and subcortical structures, including striatal asymmetry and anteroposterior indices. Stepwise forward discriminant analysis was performed with cross-validation (CV) using the leave-one-out technique.
Characteristic patterns for perfusion and DAT were found for all pathologies. In the parkinson-plus group, MSA, PSP, and LBD could be discriminated in 100% (+CV) of the cases. When including IPD, discrimination accuracy was 82.4% (99% without CV). 2beta-Carbomethoxy-3beta-(4-iodophenyl)nortropane imaging as a single technique was able to discriminate between ET and neurodegenerative forms with an accuracy of 93.0% (+CV); inclusion of perfusion information augmented this slightly to 97.4% (+CV).
Dual-tracer DAT and perfusion SPECT in combination with discrimination analysis allows an automated, accurate differentiation between the most common forms of parkinsonism in a clinically relevant setting.
Journal of Nuclear Medicine 04/2006; 47(3):384-92. · 5.56 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: This study focuses on psychological distress and coping strategies in partners of tested persons 5 years after predictive testing for Huntington's disease. A total of 16 carrier-couples and 17 noncarrier-couples participated in the study. Self-report questionnaires were used, assessing depression level, anxiety, intrusive and avoidance thoughts and coping strategies. Partners of carriers have as much distress as carriers, and for some distress variables even more (P<0.05-0.001). They clearly experience more psychological distress than noncarriers' partners, as expected (P<0.05-0.001). Regarding coping strategies, carriers' partners adopt more passive strategies (passive-regressive and avoiding reactions; P<0.05) and less active strategies (social support seeking and problem solving; P<0.05-0.001), compared to carriers. For both carriers and partners, the adoption of more passive strategies for coping was associated with more distress and the use of more active strategies with less distress (for carriers: P<0.05-0.001; for carriers' partners: P<0.05). The presence of children before predictive testing was an additional result-specific distress factor in carriers and their partners. In conclusion, carriers' partners have at least as much psychological distress as carriers, but partners have the tendency to draw back. The results suggest that the grief of carriers' partners may be 'disenfranchised', or not socially recognised, as if they have no right to mourn. We moreover interpreted the results referring to concepts such as anticipatory grief, psychological defences, dissonance processes and imbalanced partner relationship. Finally, we formulated some implications for genetic counselling.
European Journal of HumanGenetics 09/2005; 13(9):1077-85. · 4.23 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Recently, Hagerman et al described the occurrence of a late-onset neurological disorder in five male carriers of the fragile-X (FMR-1) premutation. The major characteristics of this disorder, designated the Fragile-X Tremor Ataxia Syndrome (FXTAS), are progressive intention tremor, cerebellar ataxia and cognitive decline. Most cases of FXTAS published thus far were ascertained through families with a known fragile-X proband. Since cerebellar ataxia is one of the main cardinal features, we performed FMR-1 premutation screening in 122 male patients, older than 50 years, who were referred to us for testing of the spinocerebellar ataxia (SCA 1, 2, 3, 6, 7) genes and who were found to be negative. In this group of patients, we found five patients with an FMR-1 premutation. In four of them, a definite diagnosis of FXTAS could be made, based on the proposed diagnostic clinical and radiological criteria for FXTAS. In light of these figures, we recommend that FMR-1 analysis should be included in the molecular diagnostic work-up in the group of male ataxia patients older than 50 years.
European Journal of HumanGenetics 02/2005; 13(1):121-3. · 4.23 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Objective information about the onset and progression of cognitive impairment in Huntington's disease (HD) is very important in the light of appropriate outcome measures when conducting clinical trials. Therefore, we evaluated the progression of cognitive functions in HD patients and asymptomatic carriers of the HD mutation (AC) over a 2.5-year period. We also sought to detect the earliest markers of cognitive impairment in AC.
A prospective study comparing HD patients, clinically asymptomatic HD mutation-carriers (AC) and non-carriers (NC). These groups were examined three times during a period of 2.5 years. At baseline the study sample consisted of 49 subjects. Forty-two subjects (19 HD patients, 12 AC and 11 NC) completed three assessments. A battery of neuropsychological tests measuring intelligence, attention, memory, language, visuospatial perception, and executive functions was performed.
The performance of HD patients deteriorated on the following cognitive tests: Symbol Digit Modalities Test (SDMT), Stroop Colour and Word, Boston Naming Test (BNT), Object and Space Perception and Trail Making Test-B. Longitudinal comparison of AC and NC revealed that performances on SDMT, Block Span, Digit Span Backwards, Hopkins Verbal Learning Test (learning and delayed recall) and Conditional Associative Learning Test are impaired in AC.
Tasks measuring mainly attention, object and space perception and executive functions adequately assess the progression of HD disease. Other cognitive functions do not significantly deteriorate. Furthermore, problems in attention, working memory, verbal learning, verbal long-term memory and learning of random associations are the earliest cognitive manifestations in AC.
Journal of Neurology 09/2004; 251(8):935-42. · 3.84 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Freezing in Parkinson's disease is a severe and disabling problem of unknown aetiology. The aim of this study was to analyse the temporal pattern and the magnitude of the electromyographic activity of the lower limb muscles just before freezing and to compare this with a voluntary stop and ongoing gait. We recruited 11 patients with a mean age of 64.8 years (SD 5.1) and a mean Unified Parkinson Disease Rating Scale (part III--off) score of 29 (SD 7.9). Within a standard 3D gait laboratory setting, surface electromyographic (EMG) data of the tibialis anterior (TA) and gastrocnemius (GS) muscles were collected using a portable EMG module. Patients in the off-phase of the medication cycle performed several trials of normal walking and voluntary stops or were exposed to freezing-provoking circumstances. Filtered EMG signals were rectified, smoothed and expressed as a percentage of the gait cycle. EMG onset was determined using a preset threshold, corrected after visual inspection. The magnitude of EMG was calculated by integrating EMG signals (iEMG) over (real) time. To control for the altered timing of activity, iEMG was also normalized for time (iEMGnormt). Analysis of variance of repeated measures analysis showed that significantly abnormal timing occurred in the TA and GS muscles with overall preserved reciprocity. Before freezing, TA swing activity already started prematurely during the pre-swing phase, whereas it was significantly shortened during the actual swing phase. For the GS muscle, a similar pattern of premature activation and termination was found during the stance phase before a freeze. GS activity also showed prolonged bursts of activity during the swing phase, not present during the normal and stop condition. Total iEMG activity of both TA and GS was significantly reduced during the pre-freezing gait cycles. However, when controlling for the altered duration of the bursts, the average iEMGnormt increased, as did the peak EMG in TA. In GS, iEMGnormt was not different in the three conditions. In conclusion, our data show that a consistent pattern of premature timing of TA and GS activity occurred before freezing, which was interpreted as a disturbance of central gait cycle timing. The total amount of EMG activity was reduced in both lower limb muscles due to the shortened time in which the muscles were active. In contrast to GS, activity in TA showed increased amplitudes of the EMG bursts, indicating a compensation strategy of pulling the leg into swing. The observed changes contribute to insufficient forward progression, deceleration and eventually a breakdown of movement.
[Show abstract][Hide abstract] ABSTRACT: A comparative study was carried out on two promising presynaptic dopamine transporter single-photon emission tomography (SPECT) radioligands with a fast pharmacokinetic profile, 123I-FP-beta-CIT (FP) and 99mTc-TRODAT-1 (TR), in order to assess their differential diagnostic power in early parkinsonism and their sensitivity for detection of disease progression. This cross-sectional study was conducted on 96 patients with early-stage parkinsonism referred in a tertiary clinical setting. Mean disease duration was 2.0+/-1.3 years, and patients had a modified Hoehn and Yahr (H&Y) stage of 1-2 (average 1.2). Forty-seven patients received TR, and 49 received FP. In both groups, ten patients with normal presynaptic function were included as a control population; all other patients were clinically diagnosed as having idiopathic Parkinson's disease. Groups were matched for gender, age, disease duration and modified H&Y stage. Triple-head gamma camera SPECT was analysed using a semiquantitative index of transporter binding (BI). Discriminant analysis with cross-validation resulted in a maximal classification accuracy for FP of 93% (sensitivity 95% and specificity 86%) for the contralateral putamen BI. For TR, the corresponding values were 87% accuracy, 92% sensitivity and 70% specificity. For FP, disease duration was correlated with both the putamen BI (-8.8%/year, rho=-0.41, P=0.025) and the putamen/caudate ratio (-7.4%/year, rho=-0.51, P=0.004), but for TR no significant correlation was found (all P values >0.5). In conclusion, both FP and TR show high sensitivity in a clinically relevant setting, but FP has superior accuracy for early differential diagnosis of idiopathic parkinsonism and non-degenerative extrapyramidal disorders, as well as better sensitivity for disease follow-up.
European journal of nuclear medicine and molecular imaging 08/2004; 31(8):1119-27. · 5.22 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: To evaluate the effect of a musical exercise programme on mood state and cognitive function in women with dementia.
Randomized controlled trial.
Public Psychiatric Hospital Rekem, Belgium.
Twenty-five patients with dementia.
Fifteen patients attended exercise training for three months, which consisted of daily physical exercises supported by music for 30 min/session. They were compared with a group of 10 control patients, who received an equal amount of attention through daily conversation.
The effect on cognition was measured by the Mini-Mental State Examination (MMSE) and the Amsterdam Dementia Screening Test 6 (ADS 6). Behaviour was evaluated with the abbreviated Stockton Geriatric Rating Scale (BOP scale). The assessments were made before, after six weeks of intervention and immediately after the three-month experimental period.
The exercise group showed a significant improvement in cognition. This was documented by an increased MMSE mean score of 12.87-15.53, and by a higher median score, rising from 10 to 14 points, on the subset 'fluency' (ADS 6 test). The control group showed no significant improvement, either on the MMSE (mean score of 10.80-11.00) or on the fluency subtest of the ADS 6 (median scores were 6.5-7 points). The effects on behavioural changes were not significant.
The present study suggests a beneficial effect of cognition using a music-based exercise programme in a group of patients with moderate to severe dementia. Further studies are needed to confirm these findings.
[Show abstract][Hide abstract] ABSTRACT: This study focuses on the partner relationship of tested persons, 5 years after their predictive test result for Huntington's disease (HD). We describe changes in marital status, quality of the relationship, and perceived changes in the relationship. Twenty-six carriers, 14 of their partners, 33 non-carriers, and 17 of their partners participated in the study. Qualitative and quantitative methods were used. For the majority of tested persons (about 70%), the marital status was unchanged 5 years post test. Overall, carriers rated the quality of the relationship higher than their partners did and they perceived more positive changes. Qualitative data show that a test result leading to changed roles may induce significant marital distress. Another consequence of the test may be the changes in dynamics in asymptomatic carrier couples. A pre-test discussion of the possible impact of the test result on the relationship should result in a better preparation for and more understanding of the reactions after testing. Counselling after testing should stimulate an open communication between partners with consideration of needs and anxieties of both partners.
[Show abstract][Hide abstract] ABSTRACT: To evaluate the effect of creatine (Cr) supplementation (5 g/day) in Huntington's disease (HD).
A 1-year double-blind placebo-controlled study was performed in 41 patients with HD (stage I through III). At baseline and after 6 and 12 months, the functional, neuromuscular, and cognitive status of the patients was assessed by a test battery that consisted of 1) the Unified Huntington's Disease Rating Scale (UHDRS), 2) an exercise test on an isokinetic dynamometer to assess strength of the elbow flexor muscles, 3) a maximal exercise test on a bicycle ergometer to evaluate cardiorespiratory fitness, and 4) a test to assess bimanual coordination ability. Following the baseline measurements, the subjects were assigned to either a creatine (n = 26) or a placebo group (n = 15).
Scores on the functional checklist of the UHDRS (p < 0.05), maximal static torque (p < 0.05), and peak oxygen uptake (p < 0.05) decreased from the start to the end of the study, independent of the treatment received. Cognitive functioning, bimanual coordination ability, and general motor function (total motor scale, UHDRS) did not change from baseline to 1 year in either group.
One year of Cr intake, at a rate that can improve muscle functional capacity in healthy subjects and patients with neuromuscular disease (5 g/day), did not improve functional, neuromuscular, and cognitive status in patients with stage I to III HD.
[Show abstract][Hide abstract] ABSTRACT: effect of oral creatine supplementation (CR; 5 g/day) in conjunction with exercise training on physical fitness was investigated in men between 55 and 75 yr of age (n = 46). A double-blind randomized placebo-controlled (PL) trial was performed over a 6-mo period. Furthermore, a subgroup (n = 20) completed a 1-yr follow-up. The training program consisted of cardiorespiratory endurance training as well as moderate resistance training (2-3 sessions/wk). Endurance capacity was evaluated during a maximal incremental bicycle ergometer test, maximal isometric strength of the knee-extensor muscles was assessed by an isokinetic dynamometer, and body composition was assessed by hydrostatic weighing. Furthermore, in a subgroup (PL: n = 13; CR: n = 12) biopsies were taken from m. vastus lateralis to determine total creatine (TCr) content. In PL, 6 mo of training increased peak oxygen uptake rate (+16%; P < 0.05). Fat-free mass slightly increased (+0.3 kg; P < 0.05), whereas percent body fat slightly decreased (-1.2%; P < 0.05). The training intervention did not significantly change either maximal isometric strength or body weight. The responses were independent of CR. Still, compared with PL, TCr was increased by approximately 5% in CR, and this increase was closely correlated with initial muscle creatine content (r = -0.78; P < 0.05). After a 1-yr follow-up, muscle TCr was not higher in CR than in PL. Furthermore, the other measurements were not affected by CR. It is concluded that long-term creatine intake (5 g/day) in conjunction with exercise training does not beneficially impact physical fitness in men between 55 and 75 yr of age.
Journal of Applied Physiology 09/2003; 95(2):818-28. · 3.43 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Electrical brain stimulation may be a therapeutic alternative for irreversible lesions in treatment-resistant patients with obsessive-compulsive disorder (OCD). We compared the effects of electrical stimulation and lesion in the nucleus accumbens (n acc) on the behaviour of rats in a model for OCD. Rats were tested for spontaneous alternation behaviour (AB) in a T-maze and assigned to four groups: an electrode implant group with stimulation 'ON' (stimON) or 'OFF' (stimOFF), a lesion or a sham group. Postoperatively, the number of arm visits and AB were tested after 8-hydroxy-2-(di-n-propylamino)-tetralin hydrobromide (8-OH-DPAT; 2 mg/kg) or saline administration. After 8-OH-DPAT administration, more arm visits were counted in the stimON (92.2%) and lesion groups (79.3%) than in both control groups (stimOFF 54.2; sham 61.2%). AB was significantly decreased in the stimON (10.5%) and lesion groups (10.2%) relative to the sham (22.0%) but not to the stimOFF group (14.7%). After saline administration, rats performed more arm visits in the stimON (81.5% non-significant) and lesion groups (93.6% significant) relative to the stimOFF (70.8%) and the sham groups (74.5%). No significant differences, however, were observed for AB. In conclusion, both treatments resulted in a decreased AB after 8-OH-DPAT administration (modelling an increase in compulsions) and more arm visits.
Behavioural Brain Research 04/2003; 140(1-2):165-73. · 3.39 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The definitive diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) is based on brain autopsy. The 14-3-3 analysis in the CSF is considered a highly sensitive and specific procedure. Sensitivity, specificity and accuracy of EEG, the 14-3-3 assay and MR imaging in 12 patients referred for suspected sCJD were calculated. We suggest that diffusion-weighted MR imaging (DWI) should be included in the array of diagnostic tests because of the 100 % sensitivity and specificity.
Journal of Neurology 03/2003; 250(2):222-5. · 3.84 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The aetiology of Parkinson's disease (PD) is unknown and said to be multifactorial. We report on a retrospective epidemiological case control study, performed in Flanders during a 3-year period, investigating known and potential environmental risk factors for PD by means of questionnaires. We investigated 423 prevalent patients and 205 spouse-controls. We found familial occurrence in 15% of the patients, a mean age of onset of 58 years, and a clear male preponderance (male/female ratio 1.53). Our results suggest more nulliparity among female PD patients (95% CI: 1.08-5.76). We found a discrete clustering of patients in areas with intensive metallurgic frequently employed in metallurgy than controls (95% CI: 1.04-9.20). Furthermore, patients were clearly more exposed to zinc (95% CI: 1.51-90.90) and toluene (95% CI: 1.03 58.82). Male patients report more prostatectomy-surgery (95% CI: 1.54-17.24).
European Journal of Epidemiology 02/2003; 18(12):1133-42. · 5.15 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The paper reports on a 5-year longitudinal study on psychological distress after predictive testing for Huntington's disease (HD) and on correlates of post-test distress. Psychometric tests and questionnaires were used. The tested persons were invited to participate in the follow-up study; the uptake rate was 75% (24 carriers, 33 non-carriers). Three time points were included: baseline, 1 year and 5 years post-test. Five years after the test, mean distress scores of both carriers and non-carriers were within the normal range. Carriers did not differ from non-carriers with regard to mean general distress. Compared to non-carriers, however, carriers had significantly less positive feelings (P<0.001) and were more consciously avoiding HD-related situations and thoughts (P<0.01). These findings reflect the carriers' conscious and unconscious attempt to escape from pessimism and to minimise negative consequences of the test result. Psychological distress 5 years post-test was significantly associated with ego-strength (P<0.05 to P<0.001). Except for intrusion and avoidance, distress was also associated with test motivation (P<0.05 to P<0.01). Compared with baseline level, mean depression, general and specific anxiety had significantly decreased 1 year and 5 years post-test (P<0.05 to 0.01). This evolution was independent of the test result. However, based on test motivation, a subgroup of tested persons having long lasting psychological distress could be identified, also irrespective of test result. Persons who asked the test to get rid of the uncertainty, without being able to specify implications for substantial life areas, had more psychological distress before and after the test than those who wanted the test for specific reasons (P<0.001 to P<0.0001). Moreover, the pattern of post-test anxiety differed over time, depending on the test motivation (P<0.05). The findings suggest that pre- and post-test counselling should pay special attention to persons with lower ego-strength and with an unspecified test motivation, because they are at higher risk for long-term psychological distress, independently of the test result.
European Journal of HumanGenetics 01/2003; 11(1):30-8. · 4.23 Impact Factor