Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Background: Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data. Methods. Via questionnaires we collected retrospective data of 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel) about diagnosis, treatment, monitoring and outcome. In a subsequent consensus workshop, we discussed data and clinical implications. Results: Early treatment by NTBC accompanied by diet is essential to prevent serious complications such as liver failure, hepatocellular carcinoma and renal disease. As patients may remain initially asymptomatic or develop uncharacteristic clinical symptoms in the first months of life newborn mass screening using succinylacetone (SA) as a screening parameter in dried blood is mandatory for early diagnosis. NTBC-treatment has to be combined with natural protein restriction supplemented with essential amino acids. NTBC dosage should be reduced to the minimal dose allowing metabolic control, once daily dosing may be an option in older children and adults in order to increase compliance. Metabolic control is judged by SA (below detection limit) in dried blood or urine, plasma tyrosine (<400 μM) and NTBC-levels in the therapeutic range (20-40 μM). Side effects of NTBC are mild and often transient. Indications for liver transplantation are hepatocellular carcinoma or failure to respond to NTBC. Follow-up procedures should include liver and kidney function tests, tumor markers and imaging, ophthalmological examination, blood count, psychomotor and intelligence testing as well as therapeutic monitoring (SA, tyrosine, NTBC in blood). Conclusion: Based on the data from 21 centres treating 168 patients we were able to characterize current practice and clinical experience in Tyr 1. This information could form the basis for clinical practice recommendations, however further prospective data are required to underpin some of the recommendations.

Ärztliche Untersuchungsbefunde bei polizeilich auffälligen Personen unter dem Einfluss von Amphetaminderivaten

Das Auftreten von Psychostimulantien im Straßenverkehr und eine Beeinträchtigung der Fahrtüchtigkeit durch diese spielt in Deutschland zunehmend eine wichtige Rolle. Das Ziel der hier vorliegenden Arbeit war es retrospektiv die dokumentierten Ausfallserscheinungen von Personen unter Einfluss von Amphetaminderivaten anhand von ärztlichen Untersuchungsbögen, die bei polizeilich angeordneten Blutentnahmen ausgefüllt werden, des Zeitraums 2001 bis 2005 in Rheinland-Pfalz zu untersuchen. Aufgrund der hohen Fallzahlen konnten sehr strenge Auswahlkriterien angewandt werden, sodass lediglich reine Amphetaminderivat-Intoxikationen (Amphetamin, Methamphetamin, MDA, MDMA, MDE, MBDB) bei 923 Personen untersucht werden konnten. Es zeigten sich als verkehrsrelevante Beeinflussung die Erweiterung der Pupille mit einer geringeren Lichtreagibilität, eine Verlängerung des Drehnachnystagmus sowie eine Unsicherheit beim Rombergtest. Eine Dosis-Wirkungs-Beziehung konnte lediglich bei der Pupillenweite ansatzweise gefunden werden. Bei MDMA zeigte sich ein deutlich stärkerer Einfluss auf die Pupillenweitenregulation als bei Amphetamin. Die zur Detektion von alkoholbedingten Ausfallserscheinungen sinnvollen Gleichgewichts- und Koordinationstests waren im Falle der hier betrachteten Psychstimulantien nicht aussagekräftig. Es erscheint empfehlenswert die durchgeführten Untersuchungen mit Hilfe von einheitlichen Lichtverhältnissen und festgelegten Untersuchungsprozedere zu standardisieren ggf. auch durch die Einführung der Videookulographie. Die Einführung eines Reaktionstests sollte in Erwägung gezogen werden.

Literacy, numeracy and learning in school-aged children identified as having speech and language impairment in early childhood

The progress of a nationally representative sample of 3632 children was followed from early childhood through to primary school, using data from the Longitudinal Study of Australian Children (LSAC). The aim was to examine the predictive effects of different aspects of communicative ability, and of early vs. sustained identification of speech and language impairment, on children's achievement and adjustment at school. Four indicators identified speech and language impairment: parent-rated expressive language concern; parent-rated receptive language concern; use of speech-language pathology services; below average scores on the adapted Peabody Picture Vocabulary Test-III. School outcomes were assessed by teachers' ratings of language/literacy ability, numeracy/mathematical thinking and approaches to learning. Comparison of group differences, using ANOVA, provided clear evidence that children who were identified as having speech and language impairment in their early childhood years did not perform as well at school, two years later, as their non-impaired peers on all three outcomes: Language and Literacy, Mathematical Thinking, and Approaches to Learning. The effects of early speech and language status on literacy, numeracy, and approaches to learning outcomes were similar in magnitude to the effect of family socio-economic factors, after controlling for child characteristics. Additionally, early identification of speech and language impairment (at age 4-5) was found to be a better predictor of school outcomes than sustained identification (at aged 4-5 and 6-7 years). Parent-reports of speech and language impairment in early childhood are useful in foreshadowing later difficulties with school and providing early intervention and targeted support from speech-language pathologists and specialist teachers.

Learning to drive with cognitive impairment : the experience of young ADHD diagnosed drivers and their parent supervisors

A subset of novice drivers exhibit executive function impairments which may adversely impact on the learn-to-drive period and subsequent driving experience, potentially explaining their overrepresentation in traffic offences and crashes. This paper presents the results of a qualitative analysis of a small series of in-depth semi-structured interviews undertaken individually with affected young drivers (n = 7) and each of their parent supervisors (n = 6). Young drivers were selected on the basis of their ADHD diagnosis, as a sample particularly affected by executive function impairments. Standardised rating scale measures confirmed the currency of the young drivers’ ADHD symptoms and executive function impairment. Results are discussed in terms of common experiences of the young affected drivers and those of their parents as supervising drivers of the learn-to-drive process and subsequent driving behaviour. Key themes included difficulties that were related to core executive function impairments symptomatic of ADHD. Themes also included common emotions that the young drivers associated with driving, with particular types of impact on their driving behaviour. Common strategies that were used by both the young driver and their parent during this learning process and their perceived effectiveness are also discussed. Those that were perceived to be most effective tended to focus on reducing the cognitive load for the young driver when introducing new information and skills.

The Autistic Behavioural Indicators Instrument (ABII) : development and instrument utility in discriminating autistic disorder from speech and language impairment and typical development

The Autistic Behavioural Indicators Instrument (ABII) is an 18-item instrument developed to identify children with Autistic Disorder (AD) based on the presence of unique autistic behavioural indicators. The ABII was administered to 20 children with AD, 20 children with speech and language impairment (SLI) and 20 typically developing (TD) children aged 2-6 years. Results indicated that the ABII discriminated children diagnosed with AD from those diagnosed with SLI and those who were TD, based on the presence of specific social attention, sensory, and behavioural symptoms. A combination of symptomology across these domains correctly classified 100% of children with and without AD. The paper concludes that the ABII shows considerable promise as an instrument for the early identification of AD.

Impact of simulated visual impairment on the cognitive test performance of young adults

Aims: This study investigated the effect of simulated visual impairment on the speed and accuracy of performance on a series of commonly used cognitive tests. ----- Methods: Cognitive performance was assessed for 30 young, visually normal subjects (M=22.0yrs ± 3.1 yrs) using the Digit Symbol Substitution Test (DSST), Trail Making Test (TMT) A and B and the Stroop Colour Word Test under three visual conditions: normal vision and two levels of visually degrading filters (VistechTM) administered in a random order. Distance visual acuity and contrast sensitivity were also assessed for each filter condition. ----- Results: The visual filters, which degraded contrast sensitivity to a greater extent than visual acuity, significantly increased the time to complete (p<0.05), but not the number of errors made, on the DSST and the TMT A and B and affected only some components of the Stroop test.----- Conclusions: Reduced contrast sensitivity had a marked effect on the speed but not the accuracy of performance on commonly used cognitive tests, even in young individuals; the implications of these findings are discussed.

Visual impairment, postural stability and falls among older adults with glaucoma

Purpose: To investigate the impact of glaucomatous visual impairment on postural sway and falls among older adults.Methods: The sample comprised 72 community-dwelling older adults with open-angle glaucoma, aged 74.0 5.8 years (range 62 to 90 years). Measures of visual function included binocular visual acuity (high-contrast), binocular contrast sensitivity (Pelli- Robson) and binocular visual fields (merged monocular HFA 24-2 SITA-Std). Postural stability was assessed under four conditions: eyes open and closed, on a firm and on a foam surface. Falls were monitored for six months with prospective falls diaries. Regression models, adjusting for age and gender, examined the association between vision measures and postural stability (linear regression) and the number of falls (negative binomial regression). Results: Greater visual field loss was significantly associated with poorer postural stability with eyes open, both on firm (r = 0.34, p < 0.01) and foam (r = 0.45, p < 0.001) surfaces. Eighteen (25 per cent) participants experienced at least one fall: 12 (17 per cent) participants fell only once and six (eight per cent) participants fell two or more times (up to five falls). Visual field loss was significantly associated with falling; the rate of falls doubled for every 10 dB reduction in field sensitivity (rate ratio = 1.08, 95% CI = 1.02–1.13). Importantly, in a model comprising upper and lower field sensitivity, only lower field loss was significantly associated with the number of falls (rate ratio = 1.17, 95% CI = 1.04–1.33). Conclusions: Binocular visual field loss was significantly associated with postural instability and falls among older adults with glaucoma. These findings provide valuable directions for developing falls risk assessment and falls prevention strategies for this population.

Discount rates in disarray : evidence on flawed goodwill impairment testing

Carlin and Finch, this issue, compare goodwill impairment discount rates used by a sample of large Australian firms with ‘independently’ generated discount rates. Their objective is to empirically determine whether managers opportunistically select goodwill discount rates subsequent to the 2005 introduction of International Financial Reporting Standards (IFRS) in Australia. This is a worthwhile objective given that IFRS introduced an impairment regime, and within this regime, discount rate selection plays a key role in goodwill valuation decisions. It is also timely to consider the goodwill valuation issue. Following the recent downturn in the economy, there is a high probability that many firms will be forced to write down impaired goodwill arising from boom period acquisitions. Hence, evidence of bias in rate selection is likely to be of major concern to investors, policymakers and corporate regulators. Carlin and Finch claim their findings provide evidence of such bias. In this commentary I review the validity of their claims.

Hearing impairment affects older people’s ability to drive in the presence of distracters

OBJECTIVES: To investigate the effects of hearing impairment and distractibility on older people's driving ability, assessed under real-world conditions. DESIGN: Experimental cross-sectional study. SETTING: University laboratory setting and an on-road driving test. PARTICIPANTS: One hundred seven community-living adults aged 62 to 88. Fifty-five percent had normal hearing, 26% had a mild hearing impairment, and 19% had a moderate or greater impairment. ---------- MEASUREMENTS: Hearing was assessed using objective impairment measures (pure-tone audiometry, speech perception testing) and a self-report measure (Hearing Handicap Inventory for the Elderly). Driving was assessed on a closed road circuit under three conditions: no distracters, auditory distracters, and visual distracters. RESULTS: There was a significant interaction between hearing impairment and distracters, such that people with moderate to severe hearing impairment had significantly poorer driving performance in the presence of distracters than those with normal or mild hearing impairment. CONCLUSION: Older adults with poor hearing have greater difficulty with driving in the presence of distracters than older adults with good hearing.