Publications by authors named "Rachael C Birch"

Autism spectrum disorder is associated with high rates of co-occurring health conditions. While elevated prescription rates of psychotropic medications have been reported in the United Kingdom and the United States, there is a paucity of research investigating clinical and prescribing practices in Australia. This study describes the problems managed and medications prescribed by general practitioners in Australia during encounters where an autism spectrum disorder was recorded.

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Background: Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene. Premutation expansions of the FMR1 gene confer risk for fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome, as well as other medical and psychiatric comorbidities. Premutation expansions of the FMR1 gene are common in the general population.

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Recent evidence indicates that adults with a premutation (PM: 55-199 CGG repeats) expansion in the fragile X mental retardation 1 (FMR1) gene show postural control deficits that may reflect disruption to cerebellar motor regions. Less is known about the influence of reduced cerebellar volume and structural changes, and increase in CGG repeat and FMR1 mRNA levels on the attentional demands of step initiation in PM males. We investigated the effects of a concurrent cognitive task on choice stepping reaction time (CSRT) and explored the associations between CSRT performance, cerebellar volume, CGG size, and FMR1 mRNA levels in blood in PM males.

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Objectives: The distinction between dementia and mild cognitive impairment (MCI) relies upon the evaluation of independence in instrumental activities of daily living (IADL). Self- and informant reports are prone to bias. Clinician-based performance tests are limited by long administration times, restricted access, or inadequate validation.

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Objective: To examine the prevalence and predictors of subjective memory complaints among a cohort of male FMR1 premutation (PM) carriers with and without fragile X-associated tremor ataxia syndrome (FXTAS).

Method: Twenty-two PM males (ages 26-80, 7 with FXTAS) and 24 matched controls with normal FMR1 alleles (ages 26-77) completed cross-sectional assessments of subjective memory complaints (memory complaints questionnaire, MAC-Q), objective memory function (Logical Memory subtest from the Wechsler Memory Scale, third edition), and psychiatric symptoms (Depression, Anxiety, and Stress Scales; the Structured Clinical Interview for DSM-IV-TR Axis I Disorders).

Results: Although a greater proportion of PM males (36%) endorsed subjective memory complaints compared to controls (21%), formal statistical comparisons failed to reach significance.

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Cognitive difficulties represent a common and debilitating feature of the enigmatic chronic fatigue syndrome (CFS). These difficulties manifest as self-reported problems with attention, memory, and concentration and present objectively as slowed information processing speed particularly on complex tasks requiring sustained attention. The mechanisms underlying cognitive dysfunction remain to be established; however, alterations in autonomic nervous system activity and cerebral blood flow have been proposed as possibilities.

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This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2013.

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