Understanding dyslexia and nurse education in the clinical setting.

Clinical practice and dyslexia is becoming an important topic with the introduction of disability legislation and changes in nursing school entrance requirements. This paper considers the issues surrounding nursing and dyslexia, drawing on the available evidence. Firstly, the strengths dyslexics can bring to nursing are considered, along with difficulties they can experience, although the evidence is limited, with papers being anecdotal or speculative at times.

Guidelines to the United Kingdom Disability Discrimination Act (DDA) 1995 and the Special Educational Needs and Disability Act (SENDA) 2001 with regard to nurse education and dyslexia.

This paper concerns the impact of disability legislation on nurse education, nurse educators and student nurses, in relation to academic work and clinical placement, with regard to dyslexia. The two United Kingdom acts considered are the Disability Discrimination Act (DDA), 1995 and the Special Educational Needs and Disability Act (SENDA), 2001, which is an amendment to the DDA. The paper examines and defines the main points of the acts, such as discrimination; less favourable treatment and its justification; reasonable adjustments; making adjustments in advance; disclosure and confidentiality requests; substantial disadvantage; current systems and regulations and concludes by raising issues which require clarification.

Sexual health and women with bipolar disorder.

Aim: The aim of this paper is to illustrate the importance of sexual health promotion strategies for women with bipolar disorder in order to stimulate interest and debate in this area of care.

Background: Sexual health promotion is an important aspect of holistic nursing care. However, the literature indicates that nurses are reluctant to discuss sexual health and sexual behaviour with their clients.

Attitudes towards future testing for bipolar disorder susceptibility genes: a preliminary investigation.

The discovery of susceptibility genes for the major psychiatric illnesses may lead to the development of presymptomatic and prenatal tests. In a preliminary study we assessed the attitudes of 147 bipolar patients, 90 attendees at their family doctor (GP) and 32 psychiatrists to the possible development of genetic tests for bipolar disorder susceptibility genes. Our results suggest that patients and the public will look favourably on the development of presymptomatic (but not prenatal) testing for bipolar disorder susceptibility genes.

Sibling pairs with affective disorders: resemblance of demographic and clinical features.

Background: As part of a collaborative linkage study, the authors obtained clinical and demographic data on 160 families in which more than one sibling was affected with a bipolar illness. The aim of the study was to identify clinical characteristics that had a high degree of familiality.

Method: Data on age at onset, gender, frequency of illness-episodes and proportion of manic to depressive episodes were examined to determine intra-pair correlations in affected sibling pairs.

The Wellcome trust UK-Irish bipolar affective disorder sibling-pair genome screen: first stage report.

We have completed the first stage of a two-stage genome wide screen designed to identify chromosomal regions that may harbour susceptibility genes for bipolar affective disorder. The first stage screening sample included 509 subjects from 151 nuclear families recruited within the United Kingdom and Republic of Ireland. This sample contained 154 narrowly defined affected sibling pairs (DSM-IV BPI) and 258 broadly defined affected sibling pairs (DSM-IV BPI, SABP, BPII, BPNOS or MDD(R)), approximately two thirds of all families contained at least one other additional typed individual.

Allelic variation of a BalI polymorphism in the DRD3 gene does not influence susceptibility to bipolar disorder: results of analysis and meta-analysis.

Bipolar disorder is a major psychiatric illness that has evidence for a significant genetic contribution toward its development. In recent years, the BalI RFLP (restriction fragment length polymorphism) in the dopamine D3 receptor gene has been examined as a possible susceptibility factor for both schizophrenia and bipolar disorder. While analysis in schizophrenia has produced examples of increased homozygosity in patients, less encouraging results have been found for bipolar disorder.

A functional polymorphism in the promoter of monoamine oxidase A gene and bipolar affective disorder.

The genes encoding for the enzymes monoamine oxidase (MAO) A and B are good candidates to investigate bipolar affective disorder. A 30 bp repeat in the MAOA promoter was recently demonstrated to be polymorphic and to affect transcriptional activity. In a family-based association design we found that none of the different repeat copies was preferentially transmitted from mothers (n = 131) to their children affected with bipolar disorder (chi(2) = 2.

No evidence of association from transmission disequilibrium analysis of the hKCa3 gene in bipolar disorder.

Objective: A recent case control study has suggested that modest enlargements of a highly polymorphic CAG repeat in exon 1 of the gene encoding potassium channel hKCa3 may be associated with bipolar disorder (BPD). We have examined this hypothesis by genotyping this locus in a family-based association study.

Method: One hundred and twenty-eight parent offspring trios of British Caucasian origin were examined where the proband was diagnosed with the American Psychiatric Association's Diagnostic and Statistical Manual (DSM)-IV BPD I (n = 123) or II (n = 5).

Exclusion of the Darier's disease gene, ATP2A2, as a common susceptibility gene for bipolar disorder.

Bipolar affective disorder is a genetically complex psychiatric disorder with a population prevalence of approximately 1%. We have previously reported cosegregation of bipolar affective disorder and Darier's disease, a dominant skin disorder with a neuropsychiatric component. The gene for Darier's disease was mapped to chromosome 12q23-q24.

Molecular genetic studies of bipolar disorder and puerperal psychosis at two polymorphisms in the estrogen receptor alpha gene (ESR 1).

A number of lines of evidence point to the possible involvement of estrogen pathways in the pathophysiology of bipolar disorder in general and puerperal psychosis in particular. There is strong evidence from clinical, follow-up, and genetic studies to support the hypothesis that most cases of puerperal psychosis are manifestations of an affective disorder diathesis with a puerperal trigger and that genes influence susceptibility to both diathesis and trigger. The nature of the trigger is unknown but in view of the abrupt onset at a time of major physiological change it is widely believed that biological, probably hormonal, mechanisms are of paramount importance, with estrogen receiving the most attention to date.

Association analysis of the proneurotensin gene and bipolar disorder.

Neurotensin (NT) localizes within dopaminergic neurones in the mesocortical, mesolimbic and nigrostriatal systems, and it is now clear that NT can selectively modulate dopaminergic neurotransmission. It has therefore been proposed that altered NT function might contribute to the pathogenesis of neuropsychiatric disorders in which disordered dopaminergic neurotransmission is suspected. We have previously screened the gene encoding NT in a sample of schizophrenic and bipolar subjects, and identified three sequence variants.

Comparative sequencing and association studies of aromatic L-amino acid decarboxylase in schizophrenia and bipolar disorder.

Aromatic L-amino acid decarboxylase (AADC) is a relatively non specific enzyme involved in the biosynthesis of several classical neurotransmitters including dopamine and 5-hydroxytryptamine (5HT; serotonin). AADC does not catalyse the rate limiting step in either pathway, but is rate limiting in the synthesis of 2-phenylethylamine (2PE) which is a positive modulator of dopaminergic transmission and a candidate natural psychotogenic compound.1 We and others have proposed that polymorphism in AADC resulting in altered 2PE activity might contribute to the pathogenesis of psychosis.

Family-based association studies of bipolar disorder with candidate genes involved in dopamine neurotransmission: DBH, DAT1, COMT, DRD2, DRD3 and DRD5.

The dopaminergic system has been implicated in the aetiology of mood disorders. We conducted family-based association studies for polymorphisms at three genes involved in the metabolism of dopamine: dopamine transporter (DAT1), dopamine-beta-hydroxylase (DBH) and catechol-O-methyl transferase (COMT); and three dopamine receptors: DRD2, DRD3 and DRD5. We used a sample of 122 parent-offspring trios of British Caucasian origin where the proband had bipolar disorder I (BPI), and analysed the results with the transmission/disequilibrium test (TDT) which is robust to hidden population stratification.

CTG18.1 and ERDA-1 CAG/CTG repeat size in bipolar disorder.

Several groups have reported association between large CAG/CTG repeat sequences in the genome and bipolar disorder using the Repeat Expansion Detection (RED) method. Unfortunately, the RED method cannot identify the specific repeat(s) responsible for these findings but it has recently been proposed that around 90% of the large CAG/CTG repeats detected by RED can be explained by repeat size at either CTG18.1, which maps to 18q21.

No association between a polymorphic CAG repeat in the human potassium channel gene hKCa3 and bipolar disorder.

A recent case-control study suggested that modest enlargements of a CAG repeat in the hKCa3 potassium channel may be associated with bipolar disorder. We tried to replicate this result in a UK Caucasian sample of 203 DSM-IV bipolar I disorder patients and 206 controls group-matched for age and sex. Using the same model of analysis as the earlier study, bipolar probands did not have a higher frequency of alleles with greater than 19 repeats than controls (chi2 = 1.

Intrafamilial association of pericentric inversion of chromosome 9, inv (9)(p11-q21), and rapid cycling bipolar disorder.

Association of a chromosome aberration and psychiatric disorder can be useful in highlighting a genomic region that can be profitably explored further using positional cloning. We report the case of a father and daughter both of whom have bipolar disorder II and a pericentric inversion of chromosome 9.

Association between functional psychosis and expanded CAG/CTG repeats is not explained by health stratification.

A number of studies have reported an association between large CAG/CTG repeats and both schizophrenia and bipolar disorder. Recently, we reported an inverse correlation between CAG/CTG repeat size and age in a health-selected population, raising the possibility that selection of control groups for physical health was a confounding factor in our previous association studies. We investigated this by health-selection of patients with schizophrenia and bipolar disorder.

Association studies of bipolar disorder at the human serotonin transporter gene (hSERT; 5HTT).

The human serotonin transporter gene (hSERT) is a strong candidate for involvement in the pathogenesis of mood disorder and, using a UK Caucasian case-control sample, Collier et al found a significant association between bipolar disorder and the 12 allele of the VNTR polymorphism in intron 2 of this gene. In a European collaborative sample, Collier et al found a significant association between affective disorder and a functional deletion polymorphism in the promoter of hSERT. We have undertaken association studies using these polymorphisms in a British Caucasian sample comprising 171 DSM-IV bipolar probands, 80 DSM-IV major depression probands and 121 unrelated controls matched to bipolar probands for age, sex and ethnicity.