Reviewing causes of death of individuals with intellectual disability in New South Wales, Australia: a record-linkage study.

BACKGROUND: People with intellectual disability (ID) have a much higher mortality rate than the general population. To reduce the rate of mortality of people with ID, it is critical that causes of death are properly understood, recorded and reported. Formal reviews of causes of death are used in some countries to ensure that causes of death are accurate. To date, the impact of these formal reviews on understanding causes of death of people with ID has not been quantified. METHODS: The study aimed to quantify the impact of formal reviews of deaths on the understanding of causes of death of people with ID who died while living in residential care. Individuals (851) with ID who died in residential care in New South Wales (NSW), Australia, between 1 December 2002 and 31 December 2013, who had a cause of death recorded in both the NSW Cause of Death Unit Record File (COD-URF; cause of death recorded at time of death) and NSW Ombudsman dataset (cause of death recorded after in-depth review) were included in the study. We assessed agreement in coding for cause of death by comparing the International Classification of Diseases 10th Revision (ICD-10) codings at three levels of diagnostic specificity, for both underlying and additional causes of death. We conducted our analysis through both descriptive comparison and through two boosted regression trees. RESULTS: Approximately half of the underlying causes of death were different after review by the NSW Ombudsman compared with the COD-URF. Certain causes of death (determined by ICD-10 chapter) were less likely to predict matches between the dataset than others, with individuals with mental, behavioural and neurodevelopmental disorders recorded in the COD-URF least likely to have a matching cause of death in NSW Ombudsman dataset. For deaths where there was no agreement at any level between the datasets, a high level of unknown causes of death was recorded. CONCLUSIONS: Formal review of deaths of people with ID in residential care is important to determining true causes of death and therefore developing appropriate health policy for people with ID.

Using linked administrative data to determine the prevalence of intellectual disability in adult prison in New South Wales, Australia.

BACKGROUND: Studies of the representation of people with intellectual disability (ID) in custody report widely inconsistent findings that reflect variation in how ID is defined and the methods employed for identification. Using linked administrative data may be of utility in studies of the representation of people with ID in custody. However, this approach requires an understanding of the purpose of and factors influencing identification in disparate administrative datasets. METHODS: This study uses linked administrative data encompassing disability, health and corrections data for the year 2014 to estimate the prevalence of ID in adult custody and explore how ID representation within administrative data impacts prevalence estimates and what patterns of identification reveal about support service access for this group. RESULTS: This study finds that 4.3% of the New South Wales adult custody population had an identified ID. Prisoners with ID were younger, more likely to have had a previous custodial episode and more likely to be Indigenous than the general prison population. Identification of ID across linked administrative datasets is uneven, which, if used in isolation, would result in variation in prevalence estimates according to source data. CONCLUSIONS: The utilisation of linkage data from a broad range of health and support services including custody offers a comprehensive identification methodology. Inconsistency in the identification of ID across datasets indicates a potential disjuncture between prisoners with ID and support services, which may have relevance for efforts to reduce reincarceration of those in this population.

Genetic and Environmental Influences on Language Ability in Older Adults: Findings from the Older Australian Twins Study.

We used a sub-sample from the Older Australian Twins Study to estimate the heritability of performance on three tests of language ability: Boston Naming Test (BNT), Letter/Phonemic Fluency (FAS) and Category/Semantic Fluency (CFT) Tests. After adjusting for age, sex, education, mood, and global cognition (GC), heritability estimates obtained for the three tests were 0.35, 0.59, and 0.20, respectively. Multivariate analyses showed that the genetic correlation were high for BNT and CFT (0.61), but low for BNT and FAS (0.17), and for FAS and CFT (0.28). Genetic modelling with Cholesky decomposition indicated that the covariation between the three measures could be explained by a common genetic factor. Environmental correlations between the language ability measures were low, and there were considerable specific environmental influences for each measure. Future longitudinal studies with language performance and neuroimaging data can further our understanding of genetic and environmental factors involved in the process of cognitive aging.

Primary health care for people with an intellectual disability: an exploration of consultations, problems identified, and their management in Australia.

BACKGROUND: People with an intellectual disability (ID) have more complex and different patterns of health care needs than the general population. They experience a greater burden of multi-morbidity, high levels of undetected and unmanaged health issues, and premature mortality than the general population. Primary care has a key role in the health care of people with an ID. Currently, very little is known about the consultation type and length, problems managed, and how general practitioners (GPs) manage these problems for people with an ID compared with the general population. This information would provide valuable insights into how GPs are achieving the health guidelines and facilitating people with an ID to achieve the highest attainable standard of health. METHODS: A secondary analysis of data was collected from January 2003 to December 2012 from the Bettering the Evaluation and Care of Health (BEACH) programme. Consultation type, consultation length in minutes, problem(s) managed during the consultation, medications, treatments provided, and referrals made, pre and post age-sex standardisation, at all GP encounters with people identified in the encounter record as having an ID ('ID' encounters, n = 690) were compared with those at 'non-ID' encounters (n = 970 641). Statistical significance was tested with 95% confidence intervals. RESULTS: This study identified significant differences in consultation types, consultation length, problem(s) managed during the consultation, medications, treatments provided, and referrals made at 'ID' encounters compared with 'non-ID' encounters. 'ID' encounters had more indirect encounters, longer consultations, more problems managed, but an under management of common health conditions in people with an ID. Administrative rather than medically related actions dominated clinical treatments for people at 'ID' encounters, and they received fewer procedural treatments, referrals to specialists, and medications compared with those at 'non-ID' encounters. CONCLUSION: The significant differences in consultations, problems identified and managed suggest that GPs may require additional support to (1) identify and manage common medical conditions experienced by people with an ID; (2) manage the increased time required for consultations; and (3) directly consult with people with an ID. Further research is required to determine why GPs managed problems in a significantly different way for people with an ID.

Primary health care for people with an intellectual disability: an exploration of demographic characteristics and reasons for encounters from the BEACH programme.

BACKGROUND: People with an intellectual disability (ID) have complex and different patterns of healthcare needs. Poor participation in primary health care contributes to the high levels of undetected and unmanaged health issues and premature deaths of people with an ID. Limited research is available on the characteristics of people with an ID, their reasons for consulting general practitioners (GPs), and if these differ to people without an ID. Gaining such insights may provide an avenue to better understand patterns of primary care use and potential gaps in usage by people with an ID given their complex health profile compared with people without an ID. METHOD: A secondary analysis of data collected January 2003 to December 2012 from The Bettering the Evaluation and Care of Health programme was used. Participant characteristics and their reasons for encounter, pre- and post-age-sex standardisation, at all GP encounters with people identified in the encounter record as having an ID ('ID' encounters, n = 690) were compared with those at 'non-ID' encounters (n = 970 641). Statistical significance was tested with chi-squared statistics or 95% confidence intervals as appropriate. RESULTS: This study identified significant differences in participant characteristics and their reasons for consulting GPs at ID encounters compared with non-ID encounters. Participants at ID encounters had a skewed demography, an over-representation of presentations for psychological, social and 'general and unspecified' reasons, and an under-representation of presentations for core physical health and preventive health measures. Administrative rather than medically related reasons dominated presentations to general practice at ID encounters. CONCLUSION: There are significant differences in the characteristics of participants and their reasons for presentation to general practice in Australia for participants at ID encounters compared with non-ID encounters. This work suggests that there is a difference in service use patterns between these two groups. These findings may suggest that people with an ID experience barriers to participating in essential primary healthcare services.

Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males.

Recent evidence suggests that early changes in postural control may be discernible among females with premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene at risk of developing fragile X-associated tremor ataxia syndrome (FXTAS). Cerebellar dysfunction is well described in males and females with FXTAS, yet the interrelationships between cerebellar volume, CGG repeat length, FMR1 messenger RNA (mRNA) levels and changes in postural control remain unknown. This study examined postural sway during standing in a cohort of 22 males with the FMR1 premutation (ages 26-80) and 24 matched controls (ages 26-77). The influence of cerebellar volume, CGG repeat length and FMR1 mRNA levels on postural sway was explored using multiple linear regression. The results provide preliminary evidence that increasing CGG repeat length and decreasing cerebellar volume were associated with greater postural sway among premutation males. The relationship between CGG repeat length and postural sway was mediated by a negative association between CGG repeat size and cerebellar volume. While FMR1 mRNA levels were significantly elevated in the premutation group and correlated with CGG repeat length, FMR1 mRNA levels were not significantly associated with postural sway scores. These findings show for the first time that greater postural sway among males with the FMR1 premutation may reflect CGG repeat-mediated disruption in vulnerable cerebellar circuits implicated in postural control. However, longitudinal studies in larger samples are required to confirm whether the relationships between cerebellar volume, CGG repeat length and postural sway indicate greater risk for neurological decline.

Understanding the neuropsychiatric phenotype of fragile X-associated tremor ataxia syndrome: a systematic review.

Fragile X-associated tremor ataxia syndrome (FXTAS) is a recently identified X-linked neurodegenerative disorder affecting a proportion of premutation carriers of the Fragile X Mental Retardation 1 (FMR1) gene. Previous research suggests that cognitive and psychiatric features of FXTAS may include primary impairments in executive function and increased vulnerability to mood and anxiety disorders. A number of these reports, however, are based on overlapping cohorts or have produced inconsistent findings. A systematic review was therefore conducted to further elucidate the neuropsychiatric features characteristic of FXTAS. Fourteen papers met inclusion criteria for the review and were considered to represent nine independent FXTAS cohorts. Findings from the review suggest that the neuropsychiatric phenotype of FXTAS is characterised primarily by poorer performance on measures of executive function, working memory, information processing speed, and fine motor control when compared to matched comparison groups. Two studies were identified in which psychiatric symptoms in FXTAS were compared with controls, and these yielded mixed results. Overall the results of this review support previous reports that the neuropsychiatric profile of FXTAS is consistent with a dysexecutive fronto-subcortical syndrome. However, additional controlled studies are required to progress our understanding of FXTAS and how the neuropsychiatric profile relates to underlying pathological mechanisms.

Impairment in instrumental activities of daily living with high cognitive demand is an early marker of mild cognitive impairment: the Sydney memory and ageing study.

BACKGROUND: Criteria for mild cognitive impairment (MCI) consider impairment in instrumental activities of daily living (IADL) as exclusionary, but cross-sectional studies suggest that some high-level functional deficits are present in MCI. This longitudinal study examines informant-rated IADL in MCI, compared with cognitively normal (CN) older individuals, and explores whether functional abilities, particularly those with high cognitive demand, are predictors of MCI and dementia over a 2-year period in individuals who were CN at baseline. METHOD: A sample of 602 non-demented community dwelling individuals (375 CN and 227 with MCI) aged 70-90 years underwent baseline and 24-month assessments that included cognitive and medical assessments and an interview with a knowledgeable informant on functional abilities with the Bayer Activities of Daily Living Scale. RESULTS: Significantly more deficits in informant-reported IADL with high cognitive demand were present in MCI compared with CN individuals at baseline and 2-year follow-up. Functional ability in CN individuals at baseline, particularly in activities with high cognitive demand, predicted MCI and dementia at follow-up. Difficulties with highly cognitively demanding activities specifically predicted amnestic MCI but not non-amnestic MCI whereas those with low cognitive demand did not predict MCI or dementia. Age, depressive symptoms, cardiovascular risk factors and the sex of the informant did not contribute to the prediction. CONCLUSIONS: IADL are affected in individuals with MCI, and IADL with a high cognitive demand show impairment predating the diagnosis of MCI. Subtle cognitive impairment is therefore likely to be a major hidden burden in society.

Prevalence and characteristics of depression in mild cognitive impairment: the Sydney Memory and Ageing Study.

OBJECTIVE: Depression might be a risk factor for dementia. However, little is known about the prevalence of depressive symptoms in mild cognitive impairment (MCI) and whether mood or motivation-related symptoms are predominant. METHOD: A total of 767 non-demented community-dwelling adults aged 70-90 years completed a comprehensive assessment, including neuropsychological testing, and a past psychiatric/medical history interview. Depressive symptoms were assessed using the Geriatric Depression Scale (GDS) and Kessler Psychological Distress Scale (K10). Exploratory factor analysis was performed on the GDS and K10 to derive 'mood' and 'motivation' subscales. RESULTS: A total of 290 participants were classified as having MCI and 468 as cognitively normal (CN). Participants with MCI reported more depressive symptoms, and more MCI participants met the cut-off for clinically significant symptoms, relative to CN participants. Those with amnestic MCI (aMCI), but not non-amnestic MCI, had more depressive symptoms and were more likely to meet the cut-off for clinically significant depressive symptoms, relative to CN participants. Participants with MCI reported more mood-related symptoms than CN participants, while there were no differences between groups on motivation-related symptoms. CONCLUSION: Individuals with MCI, especially aMCI, endorse more depressive symptoms when compared with cognitively intact individuals. These findings highlight the importance of assessing and treating depressive symptoms in MCI.

Inflammatory biomarkers predict depressive, but not anxiety symptoms during aging: the prospective Sydney Memory and Aging Study.

This study addresses the paucity of research on the prospective relationship between a range of inflammatory markers and symptoms of depression and anxiety during aging. In the Sydney Memory and Aging Study, the relationships between remitted depression, current and first onset of symptoms of depression or anxiety (Geriatric Depression Scale and Goldberg Anxiety Scale (GDS, GAS), and markers of systemic inflammation (C-reactive protein (CRP), interleukins-1ß, -6, -8, -10, -12, plasminogen activator inhibitor-1 (PAI-1), serum amyloid A, tumor necrosis factor-α, and vascular adhesion molecule-1) were investigated. The sample consists of N=1037 non-demented community-dwelling elderly participants aged 70-90 years assessed at baseline and after 2-years. All analyses were adjusted for gender, age, years of education, total number of medical disorders diagnosed by a doctor, cardiovascular disorders, endocrine disorders, smoking, body mass index, currently using anti-depressants, NSAIDS or statins and diabetes mellitus. The results show a significant linear relationship between increasing levels of IL-6 and depressive symptoms at baseline only, whereas IL-8 was associated with depressed symptoms at baseline and at 2 years follow-up. In addition, IL-8 was associated with first onset of mild to moderate depressive symptoms over 2 years. Logistic regression analyses showed that PAI-1 (OR=1.37, 95% CI=1.10-1.71, p=0.005) was associated with remitted depression. Results for anxiety symptoms were negative. The findings are suggestive of IL-6 and IL-8 being associated with current symptoms and IL-8 being associated with first onset of depressive symptoms, whereas PAI-1 could be regarded as a marker of remitted depression.

The relationship of current depressive symptoms and past depression with cognitive impairment and instrumental activities of daily living in an elderly population: the Sydney Memory and Ageing Study.

Depressive symptoms are common in the elderly and they have been associated with cognitive and functional impairment. However, relatively less is known about the relationship of a lifetime history of depression to cognitive impairment and functional status. The aim of this cross-sectional study was to assess whether current depressive symptoms and past depression are associated with cognitive or functional impairment in a community-based sample representative of east Sydney, Australia. We also examined whether there was an interaction between current and past depression in their effects on cognitive performance. Eight hundred non-demented aged participants received a neuropsychological assessment, a past psychiatric history interview and the 15-item Geriatric Depression Scale. The Bayer-Activities of Daily Living scale was completed by an informant to determine functional ability. Clinically relevant depressive symptoms were present in 6.1% of the sample and 16.6% reported a history of depression. Participants with current depression had significantly higher levels of psychological distress and anxiety, and lower life satisfaction and performed worse on memory and executive function compared to participants without current depression. After controlling for anxiety the effect on executive function was no longer significant while the effect on memory remained significant. A history of depression was associated with worse executive function, higher levels of psychological distress and anxiety, and lower life satisfaction. After controlling for psychological distress the effect of past depression on executive function was no longer significant. There were no significant interactions between current and past depression in their effects on cognitive performance. There were no differences between participants with or without current depression and with or without past depression on functional abilities. These results support the view that current and past depressive episodes are associated with poorer cognitive performance but not with functional abilities.

Brain ageing in the new millennium.

OBJECTIVE: This paper examines the current literature pertaining to brain ageing. The objective of this review is to provide an overview of the effects of ageing on brain structure and function and to examine possible mediators of these changes. METHODS: A MEDLINE search was conducted for each area of interest. A selective review was undertaken of relevant articles. RESULTS: Although fundamental changes in fluid intellectual abilities occur with age, global cognitive decline is not a hallmark of the ageing process. Decline in fluid intellectual ability is paralleled by regionally specific age related changes apparent from both structural and functional neuroimaging studies. The histopathological mediators of these changes do not appear to be reduction in neuronal number, which, with the exception of selected hippocampal regions, remain relatively stable across age. At the molecular level, several mechanisms of age related change have been postulated. Such theoretical models await refinement and may eventually provide a basis for therapy designed to reduce effects of the ageing process. The role of possible protective factors such as 'brain reserve', neuroprotective agents and hormonal factors in modifying individual vulnerability to the ageing process has been the focus of a limited number of studies. CONCLUSION: Our understanding of the functional and structural changes associated with both healthy and pathological ageing is rapidly gaining in sophistication and complexity. An awareness of the fundamental biological substrates underpinning the ageing process will allow improved insights into vulnerability to neuropsychiatric disease associated with advancing age.

How high a dose of stimulant medication in adult attention deficit hyperactivity disorder?

OBJECTIVE: This paper examines clinical and neuroscientific evidence to address the question whether high doses of stimulant drugs offer additional advantages in the treatment of adult attention deficit hyperactivity disorder (ADHD) and at what cost. It attempts to arrive at a reasonable upper limit of dosage for clinical purposes. METHOD: The study involves a selective review of the treatment studies of ADHD in children and adults and an examination of the pharmacokinetic and pharmacodynamic data on psychostimulants in humans and animals. RESULTS AND CONCLUSIONS: The clinical and experimental data justify the use of chronic low-dose stimulant treatment of ADHD in adults, with the recommended upper limit of dose being 1 mg/kg for methylphenidate and 0.5 mg/kg for dexamphetamine. There is no empirical evidence of greater improvement with higher doses and any beneficial effect is likely to be compromised by the adverse effects, some of which can be very serious. The recommended doses should be exceeded only after careful consideration and objective documentation of beneficial and adverse consequences. Monitoring of drug levels in blood may be of some value for compliance or pharmacokinetic considerations, as there is a direct relationship between blood and brain levels as well as dopamine transporter occupancy. These recommendations are tentative and further clinical research is warranted.

Neuropsychological functioning of adults with attention deficit hyperactivity disorder.

The neuropsychological functioning of adults with Attention Deficit Hyperactivity Disorder (ADHD) was compared to that of healthy controls and individuals with mild psychiatric disorders including attentional complaints. Thirty adults in each group were examined on the Conners' Continuous Performance Test (CPT) and measures of attention, executive function, psychomotor speed, and arithmetic skills. The ADHD group performed lower than healthy controls on most measures. However when compared to the psychiatric group, the performances of the ADHD group were not significantly lower on any of the measures. The predictive power of the tests was poor in discriminating ADHD from psychiatric disorder. Implications for the clinical diagnosis of ADHD are discussed.

Attention deficit hyperactivity disorder in adults: conceptual and clinical issues.

Reports published over the past decade indicate that attention deficit hyperactivity disorder (ADHD) is a cause of significant psychological impairment in adults. The adulthood disorder occurs as a continuation of its childhood counterpart, with the full ADHD syndrome persisting into early adulthood in about a third of those with childhood ADHD. Despite advances in the understanding of the neurobiology of adult ADHD, the diagnosis is made clinically by establishing a retrospective childhood diagnosis, evaluating the current symptom profile and excluding alternative medical or psychiatric causes of symptoms. Adults with ADHD have high rates of comorbid psychiatric disorder and suffer significant relationship dysfunction, work and educational failure. There is emerging evidence for the effectiveness of specific treatments for adult ADHD, including stimulant medications and some antidepressants. Clinicians should be aware of this potentially treatable disorder in young adults presenting with psychological difficulties and a history of childhood ADHD symptoms.

Electroconvulsive treatment of neuroleptic malignant syndrome: a review and report of cases.

OBJECTIVE: Neuroleptic malignant syndrome (NMS) is a potentially lethal adverse effect of neuroleptic medication, with no satisfactory treatment currently available. Electroconvulsive therapy (ECT) has been anecdotally reported to be effective in its treatment. We review 45 published case reports of ECT for NMS and describe nine new cases, to examine its effectiveness, the likelihood of adverse reactions, and the theoretical implications of such treatment. METHOD: The authors used Medline to identify reports in the English literature where ECT was used in cases of suspected NMS. In addition, the charts of patients referred to the second author for treatment of NMS were reviewed and cases in which ECT used were identified. RESULTS: The case reports suggest that ECT is effective in many individuals with NMS, even when drug therapy has failed. The response is usually apparent after a few treatments, generally up to six. The response is not predictable on the basis of age, gender, psychiatric diagnosis or any particular feature of NMS including catatonia. Electroconvulsive therapy is a relatively safe treatment in NMS, although the risk of cardiovascular complications should be considered. Malignant hyperthermia due to the anaesthesia associated with ECT has not been reported in patients with NMS, and succinylcholine has been used safely with the exception of one report of fever and raised creatine kinase levels and another report of hyperkalemia. CONCLUSIONS: Electroconvulsive therapy is the preferred treatment in severe NMS, cases where the underlying psychiatric diagnosis is psychotic depression or catatonia, and in cases where lethal catatonia cannot be ruled out. The effectiveness of ECT for the treatment of NMS has theoretical implications for the relationship between NMS and catatonia, and the possible pathophysiological mechanisms that underlie these disorders.