RCGP-2014-poster-abstracts

Aims: To help understand the relevance of new genetic investigations to primary care by reviewing genetics results
of primary care patients referred to a national autism service.
Content: GPs are increasingly receiving clinical genetics reports that may be difficult to interpret or to see their
relevance to primary care. These may include copy number variations (CNVs); a major cause of chromosomal
duplications and deletions. CNVs were undetectable with traditional chromosomal analysis, may be benign, but are
also associated with physical/mental health problems.
We reviewed genetic investigations of 85 consecutive patients (18–65 years) diagnosed with autism spectrum
disorder (ASD) following primary care referral to the Maudsley Adult Autism Clinic (2009–2010). Assessments
included gold-­‐standard neuropsychiatric assessments for autism/psychiatric co-­‐morbidity and genetic
investigations(comparative genomic hybridization (CGH)).
Relevance: CNVs are relevant to patients and GPs as they may be associated with physical/mental health disorders
and will be increasingly managed within primary care.
Outcomes: 31% (19 male, 7 female) of ASD patients had chromosomal anomalies identified (some with associated
health problems, eg cardiac/autism); 5 had a single chromosome deletion, 16 a single duplication, 2 had 2 deletions,
and 3 had both deletion and duplication. Genes affected varied widely.
Discussion: Preliminary results suggest a third of adults with ASD referred from primary care have an associated
chromosomal anomaly. Identification of CNV’s may have important implications for physical/mental health (e.g.
cardiac/immunodeficiency/schizophrenia/ASD) and require discussion in primary care. GPs should have sufficient
understanding of new genetic investigations to signpost ASD patients to expert advice.
P018
Risk factor modification to delay the onset of dementia: what the latest evidence suggests
Ratika Birdi; Blossom Stephan
Newcastle University
Aims/objectives: The global prevalence of dementia worldwide is set to double every 20 years. Current estimations
do not account for preventative measures or modification of risk factors. Emerging research shows declining
incidence and prevalence of dementia in developed countries, possibly attributable to risk factor and lifestyle
modification. The aim is to review recent literature on the role of diet, lifestyle, and cardiovascular risk factors in
dementia and Alzheimer’s disease prevention to guide current clinical practice.
Relevance/impact: The literature synthesis is of particular relevance to primary care which faces the increasing
burden of ageing populations and lies at the forefront of guiding patients towards healthy living, managing risk
profiles and supporting public health initiatives.
Findings and discussion: Robust evidence from high-­‐income countries suggests stable or decreased dementia
prevalence over the last 20-­‐30 decades. Recent studies from Europe and the US have identified a cohort effect by
comparing two populations from the same socio-­‐demographic backgrounds, separated by time. Decline in stroke
incidence, use of thrombolytic and lipid-­‐lowering drugs, better control of cardiovascular risk and improved education
are factors implicated in the observed trends. Current evidence advocates seven modifiable risk factors (diabetes,
depression, smoking, physical inactivity, midlife hypertension, midlife obesity, cognitive inactivity and low
educational attainment) to have a plausible relationship with Alzheimer’s disease. These findings suggest that public
health interventions to minimise dementia risk and progression may be the ‘golden key’ to managing this epidemic;
enabling the ‘ageing brain’ to become ‘future proof’.
P019
Dementia -­‐ service, quality and care in primary care
Will Howe
Lostwithiel Medical Practice
A practice with 4850 patients had experienced less the optimum care for patients with dementia from local
providers.
An innovative service was commissioned and a dementia nurse was employed by the practice for new and
established cases of dementia. This provided continuity of care for the patient and family. Clinical staff in the
practice could refer patients for assessment and co-­‐ordination of nursing, medical and social needs.
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