Descriptive epidemiology of autism in a California population: who is at risk?

We investigated the association between selected infant and maternal characteristics and autism risk. Children with autism born in California in 1989-1994 were identified through service agency records and compared with the total population of California live births for selected characteristics recorded on the birth certificate. Multivariate models were used to generate adjusted risk estimates. From a live birth population of more than 3.5 million, 4381 children with autism were identified. Increased risks were observed for males, multiple births, and children born to black mothers. Risk increased as maternal age and maternal education increased. Children born to immigrant mothers had similar or decreased risk compared with California-born mothers. Environmental factors associated with these demographic characteristics may interact with genetic vulnerability to increase the risk of autism.     

Abuse of vulnerable people with dementia by their carers: can we identify those most at risk?

OBJECTIVE: We wanted to explore possible associations between characteristics of carers, dementia sufferers and the caring situation and the presence of abuse that was acknowledged by carers. METHODS: Eighty-two carers of dementia sufferers were interviewed in their homes about three types of abuse (verbal abuse, physical abuse and neglect) using a structured questionnaire. RESULTS: Fifty-two percent (n = 43) carers admitted to having carried out some form of abuse. Verbal abuse was the most common form (n = 42, 51%), while 20% (n = 16) of carers admitted to physical abuse and 4% (n = 3) to neglect abuse. Significant associations were found between verbal abuse and psychological ill health in the carer and behavioural problems in the dementia sufferer. Physical abuse was significantly associated with higher levels of self-reported good health by the carer. High expressed emotion measured in carers was highly correlated with all types of abuse. CONCLUSION: It is possible to identify situations where people with dementia may be at high risk of abuse from their carers. Any effective intervention strategy should address psychological health problems in the carer, behavioural problems in the dementia sufferer and a strategy to manage high levels of expressed emotion in these situations.     

Are typically-developing siblings of children with an autism spectrum disorder at risk for behavioral, emotional, and social maladjustment?

Existing literature regarding the adjustment of siblings of children with an autism spectrum disorder (ASD) remains inconclusive, with some studies showing positive adjustment, others showing negative adjustment, and others showing no difference when compared to siblings of typically-developing children. For the current study, 42 parents of a child with an ASD and a typically-developing sibling (ASD group) and 42 parents of two typically-developing siblings (control group) provided data via online questionnaires. Both diagnostic category and autism symptom severity were tested as possible moderators, but neither produced significant interactions with either externalizing behaviors or internalizing symptoms in the target child when predicting externalizing behaviors, internalizing symptoms, or social problems in the sibling. However, across the overall sample (ASD and control groups), maladjustment - particularly internalizing symptoms - in the target children significantly related to maladjustment in their siblings. Thus, these findings suggest that having a sibling with an ASD is neither a risk nor protective factor for maladjustment among typically-developing siblings above and beyond the relation between maladjustment among siblings in general. Given some of the mixed findings in the literature, other possible moderators that may put siblings of a child with an ASD at specific risk should be considered in future research.     

Cognitive alterations in groups at risk for psychosis: neutral markers of genetic risk or indicators of social disability?

OBJECTIVE: To investigate whether cognitive alterations associated with vulnerability to psychosis, are associated with expression of psychopathology and functional outcome in groups at different levels of risk for psychotic illness. METHOD: Neurocognition, psychopathology and functional outcome were measured in subjects with variable risk for psychosis: i) 29 patients with psychotic disorder, ii) 46 subjects at familial risk, iii) 41 subjects at psychometric risk and iv) 54 control subjects. RESULTS: Dose-response relationships between cognitive dysfunction and increasing risk for psychosis were found. Cognitive alterations were predicted by negative symptoms in patients and by positive psychotic experiences in the familial risk group. In both at risk groups, cognitive speed was associated with functional outcome. CONCLUSION: Some cognitive impairments serve as neutral endophenotypic marker across the psychosis continuum. However, other cognitive alterations associated with transmission of psychosis may have a direct impact on the pathway from risk to psychopathology and alterations in functioning.     

Constipation: an emerging risk factor for Parkinson's disease?

Constipation is the most prominent and disabling manifestation of lower gastrointestinal (GI) dysfunction in Parkinson's disease (PD). The prevalence of constipation in PD patients ranges from 24.6% to 63%; this variability is due to the different criteria used to define constipation and to the type of population enrolled in the studies. In addition, constipation may play an active role in the pathophysiological changes that underlie motor fluctuations in advanced PD through its negative effects on absorption of levodopa. Several clinical studies now consistently suggest that constipation may precede the first occurrence of classical motor features in PD. Studies in vivo, using biopsies of the GI tract and more recently functional imaging investigations, showed the presence of α‐synuclein (α‐SYN) aggregates and neurotransmitter alterations in enteric tissues. All these findings support the Braak proposed model for the pathophysiology of α‐SYN aggregates in PD, with early pathological involvement of the enteric nervous system and dorsal motor nucleus of the vagus. Therefore, constipation could have the potential sensitivity to be used as a clinical biomarker of the prodromal phase of the disease. The use of colonic biopsies to look at α‐SYN pathology, once confirmed by larger prospective studies, might eventually represent a feasible, albeit partially invasive, new diagnostic biomarker for PD.     

Are patients with pituitary adenomas at an increased risk of mental disorders?

OBJECTIVE: Retrospective clinical studies suggest that patients with pituitary adenoma (PA) have an increased risk of mental disorders. However, empirical evidence for this hypothesis is deficient because of out-dated methodology. Therefore, we investigated the occurrence of mental disorders in 93 patients with PA within a limited time frame of 2 years.METHOD: Patients were subjected to a comprehensive, standardized lifetime and cross-sectional psychopathological symptom and diagnostic assessment, including an evaluation of psychosocial conditions and life events (CIDI, SCL-90) during the past years.RESULTS: We could not find an increased risk of mental disorders as compared with a representative population sample of 481 subjects matched by age and gender.CONCLUSION: As for our random sample, neither suffering from any type of PA nor the extent of the pituitary deficiency represent factors having significant effect on the risk of the subject to develop psychopathology as compared with the general population.     

The Women's Healthy Ageing Project: Fertile ground for investigation of healthy participants ‘at risk’ for dementia

Abstract

Alzheimer's disease neuropathology (amyloid, tauopathies) and brain atrophy are present decades prior to manifestation of clinical symptoms. With the failure of treatment trials it is becoming clearer that the window for prevention and therapeutic intervention is before significant neuronal loss and clinical deterioration of cognition has occurred. Early identification of those at risk of disease and optimizing their management to prevent disease in later life are crucial to delaying disease onset and improving people's quality of life. The Women's Healthy Aging Project (WHAP) is a longitudinal study of over 400 Australian-born women, epidemiologically randomly sampled in 1990. The WHAP aims to identify modifiable mid-life risk factors for the development of late-life cognitive decline, improve the understanding of the pathogenesis of dementia, and target early disease identification utilizing clinical, biomarker and health risk profiles. These aims are fortified by the ability to leverage the considerable database on health, lifestyle and socio-demographics collected prospectively from 1990 to date. This is the first study with a comprehensive neuropsychological battery, over a decade of cognitive follow-up, with all participants being offered amyloid imaging from 2012, and prospective longitudinal data including clinical and physical measures and bio-bank samples from over 20 years prior.     

Is sleep-disordered breathing an independent risk factor for hypertension in the general population (13,057 subjects)?

Objective: Sleep-disordered breathing has been hypothesized to have a close relationship with hypertension but previous studies have reported mixed results. This is an important health issue that requires further clarification because of the potential impact on the prevention and control of hypertension.Methods: The relationship between hypertension and three forms of sleep-disordered breathing (chronic snoring, breathing pauses and obstructive sleep apnea syndrome (OSAS)) was assessed using representative samples of the non-institutionalized population of the UK, Germany and Italy (159 million inhabitants). The samples were comprised of 13,057 individuals aged 15–100 years who were interviewed about their sleeping habits and their sleep symptoms over the telephone using the Sleep-EVAL system.Results: OSAS was found in 1.9% (95% CI: 1.2% to 2.3%) of the UK sample, 1.8% (95% CI: 1.4% to 2.2%) of the German sample and 1.1% (95% CI: 0.8% to 1.4%) of the Italian sample. OSAS was an independent risk factor (odds ratio (OR): 9.7) for hypertension after controlling for possible confounding effects of age, gender, obesity, smoking, alcohol consumption, life stress, and, heart and renal disease.Conclusions: Results from three of the most populated countries in Western Europe indicate that OSAS is an independent risk factor for hypertension. Snoring and breathing pauses during sleep appeared to be non-significant predictive factors.     

Mortality and risk of dementia in normal-pressure hydrocephalus: A population study

Introduction

We examined mortality, dementia, and progression of hydrocephalic symptoms among untreated individuals with idiopathic normal-pressure hydrocephalus (iNPH) in a population-based sample.