The Profiles and Correlates of Psychopathology in Adolescents and Adults with Williams, Fragile X and Prader-Willi Syndromes.

Psychopathology is prevalent in Williams (WS), fragile X (FXS) and Prader-Willi (PWS) syndromes. However, little is known about the potential correlates of psychopathology in these groups. A questionnaire study was completed by 111 caregivers of individuals with WS (n = 35); FXS (n = 50) and PWS (n = 26). Mean age was 26 years (range 12-57 years); 74 (67%) were male. Multiple regression analyses indicated that higher rates of health problems and sensory impairments predicted higher psychopathology in WS (p < .0001). In PWS, poorer adaptive ability predicted higher overall psychiatric disturbance (p = .001), generalised anxiety (p = .006) and hyperactivity (p = .003). There were no significant predictors in FXS. This study highlights dissociations in the potential risk markers of psychopathology between genetic syndromes. Implications for intervention are discussed.

Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes.

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation.

Anxiety Disorders in Williams Syndrome Contrasted with Intellectual Disability and the General Population: A Systematic Review and Meta-Analysis.

Individuals with specific genetic syndromes associated with intellectual disability (ID), such as Williams syndrome (WS), are at increased risk for developing anxiety disorders. A systematic literature review identified sixteen WS papers that could generate pooled prevalence estimates of anxiety disorders for WS. A meta-analysis compared these estimates with prevalence estimates for the heterogeneous ID population and the general population. Estimated rates of anxiety disorders in WS were high. WS individuals were four times more likely to experience anxiety than individuals with ID, and the risk was also heightened compared to the general population. The results provide further evidence of an unusual profile of high anxiety in WS.

Computerised dynamic posturography to assess recovery comparing general anaesthesia with sedation and local anaesthesia for day case nasal surgery.

Computerised dynamic posturography (CDP) can be used as an early marker of recovery to street fitness in patients undergoing ambulatory surgery. We studied three groups of patients undergoing nasal surgery. The goal of this study was to determine whether recovery, as assessed by CDP, is more rapid in patients having nasal surgery under sedation coupled with local anaesthesia or those having surgery under general anaesthesia. We further assessed the acceptability of sedation accompanied by local anaesthesia. A control group was included to determine if there is a learning curve to posturography. There was no difference between the two study groups in terms of balance. Balance was not significantly impaired at 3 h postoperative testing.

Personal hormone monitoring for contraception.

OBJECTIVE: To determine the effectiveness and acceptability of personal hormone monitoring for contraception. DESIGN: A large prospective study was carried out on personal hormone monitoring for contraception when used with abstinence during the identified fertile days. SETTING: Three country study under the auspices of the departments of Obstetrics and Gynaecology of the Universities of Birmingham, Dublin and Dusseldorf SUBJECTS: Seven hundred and ten women, median age 30, were recruited from the general population. They were required to have regular menstrual cycles (23-35 days) and to be delaying their next pregnancy. INTERVENTIONS: Personal hormone monitoring consists of a hand held monitor and disposable test sticks which measure changes in urinary concentrations of oestrone-3-glucuronide and luteinising hormone. An algorithm estimated the fertile days which were displayed by a red light. OUTCOME MEASURES AND RESULTS: One hundred and sixty two pregnancies occurred in 7209 cycles of use, of which 67 were method related pregnancies. The 13 cycle life-table method pregnancy rate (95 per cent CI) was 12. 1 per cent (9.3-14.8). The system allowed analysis of the effect of changes to the algorithm to modify the defined fertile period. As a result the algorithm was changed to increase the median warning of the luteinising hormone surge to six days. With the revised algorithm, half of the method pregnancies would have been prevented giving a calculated method pregnancy rate of 6.2 per cent (4.2-8.3) and method efficacy of 93.8 per cent. The continuation rate after 13 cycles was 78 per cent. CONCLUSION: Personal hormone monitoring proved simple to use and will be of value to women who do not want to use other methods of contraception.

PIP: A newly developed personal system of hormone monitoring allows the rapid assay of estrone-3-glucuronide (EG) and luteinizing hormone (LH) in urine to determine the fertile period. The Persona system consists of disposable test sticks to measure EG and LH concentrations in early morning urine and a hand-held monitor that indicates by the use of red and green lights the fertile and infertile phases of the cycle. The monitor stores information for the previous 6 cycles and adapts to the individual user's patterns. The effectiveness of this regimen when used with abstinence during the identified fertile period was investigated in a prospective population-based study conducted in the UK, Ireland, and Germany. 710 women (median age, 30 years) with regular menstrual cycles were enrolled. The continuation rate after 13 cycles was 78%. 162 pregnancies occurred in 7209 cycles of use, 67 of which were method-related. The 13-cycle life-table method pregnancy rate was 12.1% (95% confidence interval (CI), 9.3-14.8%). As a result of these findings, the algorithm was changed to increase the median warning of the LH surge from 4 to 6 days. Had this revised algorithm been used, the method pregnancy rate would have been reduced to 6.2% (95% CI, 4.2-8.3%) and method efficacy increased to 93.8%. The total efficacy rate compares favorably with pregnancy rates in women using other nonhormonal methods of fertility control. Women with cycle lengths of 23-35 days can expect to be required to abstain from intercourse for 6-12 days each cycle.

Cortical evoked response olfactometry.

An objective for the assessment of smell based upon olfactory cortical responses is introduced and illustrated with clinical examples.