bluuebunny/crossref_metadata_2025 huggingface dataset:
Living with incomprehensible fatigue after recent myocardial infarction
Authors: Alsén Pia , Brink Eva , Persson Lars‐Olof
Published: October 2008

Title.  Living with incomprehensible fatigue after recent myocardial infarction.

Aim.  This paper is a report of a study of what fatigue means to patients with recent myocardial infarction (MI) and how they manage to deal with the consequences of this symptom.

Background.  After MI, fatigue is a frequent and distressing symptom. In nursing practice and in everyday conversations, the term ‘tiredness’ has a broad meaning that is often used synonymously with fatigue. Fatigue may be defined as a state along an adaptation continuum with tiredness and exhaustion as distinct states at the ends of the continuum.

Method.  In accordance with a constructivist grounded theory method, 19 patients were interviewed four months after having a MI. The informants were chosen from a larger sample of patients admitted to a coronary care unit during the period October 2005 to September 2006.

Findings.  Living with incomprehensible fatigue was identified as the central theme, which described what fatigue meant to patients 4 months after their MI and how they handled it. The core category was labelled incomprehensible fatigue. Two of the categories refer to consequences: being restricted and feeling defeated and one category describes management: fumbling coping strategies. Finally, one category concerns the outcome: moderate relief of fatigue.

Conclusion.  Nursing interventions could focus on identifying and reducing stressors as well as on increasing patients’ ability to cope with stressors. Further research should focus on identifying stressors and useful coping strategies after MI, knowledge that could be used to prevent aggravation of fatigue.
How do adults with cystic fibrosis cope following a diagnosis of diabetes?
Authors: Collins Sarah , Reynolds Frances
Published: October 2008

Title.  How do adults with cystic fibrosis cope following a diagnosis of diabetes?

Aim.  This paper is a report of a study examining the experience of adults with cystic fibrosis in adapting to the diagnosis of diabetes, a second chronic illness.

Background.  Diabetes is a common complication of cystic fibrosis; the onset signifies the development of a second chronic illness. Both cystic fibrosis and diabetes are complex conditions, which require daily treatment schedules as part of their management. However, it is unclear how people already living with cystic fibrosis respond to the diagnosis of diabetes.

Method.  A qualitative method was chosen to obtain an ‘insider’ experience of adjusting to a second chronic illness. Semi‐structured interviews were conducted in 2004 with 22 adults with cystic fibrosis‐related diabetes. The data were analysed using interpretative phenomenological analysis.

Findings.  Four recurring themes were identified: emotional response to diagnosis of diabetes, looking for an understanding, learning to live with diabetes, and limiting the impact of diagnosis. Having cystic fibrosis appeared helpful in limiting the impact of the diagnosis of diabetes. Juggling conflicting dietary demands of cystic fibrosis and diabetes coupled with the lack of practical professional advice available was seen as one of the biggest challenges in adapting to diabetes.

Conclusion.  Healthcare professionals need increased awareness of diabetes amongst adults with cystic fibrosis and provide adequate support and structured evidence‐based education throughout the course of the illness, particularly in relation to diet. Nevertheless, patients’ familiarity with regular daily routines and problem‐solving attitudes, already developed in the context of cystic fibrosis, may be drawn on to limit the impact of diabetes.
Self‐worth therapy for depressive symptoms in older nursing home residents
Authors: Tsai Yun‐Fang , Wong Thomas K.S. , Tsai Hsiu‐Hsin , Ku Yan‐Chiou
Published: October 2008

Title.  Self‐worth therapy for depressive symptoms in older nursing home residents.

Aim.  The aim of this study is to report the effects of self‐worth therapy on depressive symptoms of older nursing home residents.

Background.  Depression in older people has become a serious healthcare issue worldwide. Pharmacological and non‐pharmacological therapies have been shown to have inconsistent effects, and drug treatment can have important side‐effects.

Method.  A quasi‐experimental design was used. Older people were sampled by convenience from residents of a nursing home in northern Taiwan between 2005 and 2006. To be included in the study participants had to: (i) have no severe cognitive deficits; (ii) test positive for depressive status and (iii) take the same anti‐depressant medication in the previous 3 months and throughout the study. Participants in the experimental group (n = 31) received 30 minutes of one‐to‐one self‐worth therapy on 1 day a week for 4 weeks. Control group participants (n = 32) received no therapy, but were individually visited by the same research assistant, who chatted with them for 30 minutes on 1 day/week for 4 weeks. Depressive status, cognitive status and functional status were measured at baseline, immediately after the intervention and 2 months later. Data were analysed by mean, standard deviations, t‐test, chi‐squared test and univariate anova.

Findings.  Self‐worth therapy immediately decreased depressive symptoms relative to baseline, but not relative to control treatment. However, 2 months later, depressive symptoms were statistically significantly reduced relative to control.

Conclusion.  Self‐worth therapy is an easily‐administered, effective, non‐pharmacological treatment with potential for decreasing depressive symptoms in older nursing home residents.
The content of advocacy in procedural pain care – patients’ and nurses’ perspectives
Authors: Vaartio Heli , Leino‐Kilpi Helena , Suominen Tarja , Puukka Pauli
Published: October 2008

Title.  The content of advocacy in procedural pain care ‐ patient’ and nurses’ Perspectives.

Aim.  This paper is a report of an exploration of the content of nursing advocacy from the point of view of patients and nurses in the context of procedural pain care.

Background.  Nursing advocacy is every nurse’s professional duty, grounded in patients’ legal and moral rights. Nevertheless, earlier research has approached advocacy as a whistle‐blowing event from the nurse’s perspective.

Method.  This cross‐sectional study was conducted with a cluster sample of otolaryngology patients (n = 405) and nurses (n = 118) in 11 hospital units in Finland during 2007. The data were collected using an instrument measuring the content of advocacy and analysed statistically.

Results.  Advocacy in procedural pain care is a process which takes place in the patient–nurse relationship through role identification in decision‐making about pain care. This prompts counselling and responding activities, which in turn lead to some degree of empowerment on the part of both patient and nurse. However, advocacy is partly dependent on the nurse’s own role identification: in the context of pain care it seems that the nurse’s pain care skills and influence over pain care plans are important factors in the decision to advocate or not. At best, patients have some role in decision‐making about their care; at worst, they are subjected to paternalism.

Conclusions.  Advocacy is an integral part of the nursing care process. It is important that this key ethical aspect of professional nursing is discussed in nursing education and systematically applied in nursing practice through on‐the‐job training, feedback and collaboration.
Examination of developmental models of occupational burnout using burnout profiles of nurses
Authors: Önder Çetin , Basim Nejat
Published: October 2008

Title.  Examination of developmental models of occupational burnout using burnout profiles of nurses.

Aim.  This paper is a report of a study to identify the occupational burnout profiles of a sample of nurses in Turkey and to examine alternative developmental models of burnout based on these profiles.

Background.  Previous findings on causal links between components of occupational burnout have largely been inconclusive. There are divergent models of inter‐temporal ordering of emotional exhaustion, depersonalization and personal accomplishment, which are the three dimensions of burnout.

Method.  Data were collected with 248 nurses from five hospitals in Turkey in 2007. The Maslach Burnout Inventory was used to collect burnout data and the Job Descriptive Index was used to measure satisfaction with coworkers and supervisors. Following validity and reliability analyses of these instruments, burnout profiles were identified using cluster analysis and the resulting profiles were validated using analysis of variance.

Results.  Three burnout profiles were identified and validated. Findings suggest a coupling of emotional exhaustion and depersonalization. That is, nurses who reported higher levels of emotional exhaustion also reported higher levels of depersonalization. Examination of the profiles suggested a non‐linear relationship between personal accomplishment and emotional exhaustion or depersonalization. More specifically, nurses with higher emotional exhaustion or depersonalization did not always report lower personal accomplishment.

Conclusion.  Partial support for the developmental model that endorses temporal precedence of emotional exhaustion was found. The model that emphasizes temporal precedence of depersonalization was not supported. Depersonalization was found to be a dysfunctional coping strategy with respect to emotional exhaustion. Emotional exhaustion rather than depersonalization or perceptions of personal accomplishment should be screened for early detection and prevention of burnout.
Next‐of‐kin caregivers in palliative home care – from control to loss of control
Authors: Munck Berit , Fridlund Bengt , Mårtensson Jan
Published: October 2008

Title.  Next‐of‐kin caregivers in palliative home care ‐ from control to loss of control.

Aim.  This paper is a report of a study to describe situations influencing next‐of‐kin caregivers’ ability to manage palliative care in the home.

Background.  Palliative home care often involves major resources from next‐of‐kin, municipal and county personnel. Next‐of‐kin caregivers’ situation is depicted as so demanding and exhausting that it can affect their mental health and limit their ability to continue as a caregiver.

Methods.  A qualitative study using the Critical Incident Technique was conducted. Nine next‐of‐kin caregivers from palliative home care were strategically chosen and data were collected using audiotaped interviews in 2005.

Findings.  The analysis resulted in two main areas: ‘Maintaining control’ and ‘Losing control’. Next‐of‐kin caregivers wanted to maintain control over their lives by being continuously available 24 hours a day and by supporting and taking complete responsibility for all of the patient’s needs. They lost this control when professional assistance was lacking and they described feelings of inadequacy when their physical energy or time was insufficient. They felt incapable as the patient’s physical or mental persona metamorphosed or as serious symptoms developed that they could not control.

Conclusion.  Next‐of‐kin caregivers and the patients must feel free to choose where palliative home care will be provided and that their choice at any time can be re‐evaluated, due to insecurity or workload changes. When planning for palliative care, they should be informed that having only one caregiver reduces the chances of completing palliative care in the home.
Self‐management behaviours for patients with chronic obstructive pulmonary disease: a qualitative study
Authors: Chen Kang‐Hua , Chen Mei‐Ling , Lee Sheuan , Cho Hsiu‐Ying , Weng Li‐Chueh
Published: October 2008

Title.  Self‐management behaviours for patients with chronic obstructive pulmonary disease: a qualitative study.

Aim.  This paper is a report of a study to explore the self‐management behaviours of patients with chronic obstructive pulmonary disease (COPD).

Background.  Chronic obstructive pulmonary disease is a major cause of chronic morbidity and mortality throughout the world. A patient‐centred perspective calls for the investigation of self‐management behaviours as means to develop self‐management programmes and enhance quality of life for patients with COPD.

Method.  The participants were a convenience sample of 18 patients with COPD of various severities. Interview data were collected in the thoracic ward, outpatient department and pulmonary rehabilitation unit of a medical centre in Taiwan from November 2006 to April 2007.

Findings.  Participants demonstrated the ability to choose suitable disease management behaviours to prevent symptoms and complications. Five themes of disease management behaviours were identified: symptom management, activity and exercise implementation, environmental control, emotional adaptation and maintaining a healthy lifestyle.

Conclusion.  Participants are experts on their lives and, as such, they adopt appropriate disease control behaviours, based on their experience and knowledge, as well as integrate the illness and its symptoms into their lives. With the worldwide increase in migration, an understanding of the cultural factors that influence patients’ perspectives on self‐management behaviours is necessary and can contribute to the development of an evidence‐based programme for disease self‐management with COPD.
Living with chronic obstructive pulmonary disease: developing conscious body management in a shrinking life‐world
Authors: Gullick Janice , Stainton M. Colleen
Published: October 2008

Title.  Living with chronic obstructive pulmonary disease: developing conscious body management in a shrinking life‐world.

Aim.  This paper is a report of a study to explore the changes experienced by the person living in a body with chronic obstructive pulmonary disease.

Background.  Chronic obstructive pulmonary disease is the world’s fourth leading cause of death, and the World Health Organisation predicts further increases in prevalence and mortality. Despite a growing body of associated knowledge, there remains much to learn about patient and family‐driven goals for medical and surgical treatment to guide nursing practice, to support self–management strategies, and to provide a context for therapeutic outcomes.

Methods.  Merleau‐Ponty’s philosophy of the body provided a framework for this Heideggerian phenomenological inquiry with 15 people with emphysema and 14 of their family members. The participants were drawn from three Australian teaching hospitals. Hermeneutic analysis was used to interpret 58 in‐depth interviews conducted between 2003 and 2005.

Findings.  People with severe emphysema experience a shrinking life‐world shaped by breathlessness. This diminishes the predictability and automatic nature of their bodies and their perceived effectiveness as a person. They develop a number of strategies of conscious body management to facilitate breathing, mobility and task completion.

Conclusion.  Understanding of the person’s changed body and the resulting expertise that those living with chronic illness bring into care and assessing and facilitating this expertise are central to planning sensitive and appropriate care and evaluating outcomes for medical or surgical therapies that are perceived as meaningful to the person.
A forgotten habitat? Granite inselbergs conserve reptile diversity in fragmented agricultural landscapes
Authors: Michael Damian R. , Cunningham Ross B. , Lindenmayer David B.
Published: October 2008

Rocky outcrop ecosystems support unique biological communities, high levels of species endemism and are important in the conservation of biodiversity worldwide. Some rocky ecosystems occur in fragmented landscapes, and as such, play a key role in conserving reptile biodiversity in modified environments.

We present a case study of reptile diversity in granite landforms from south‐eastern Australia, using a conceptual framework based on landscape ecology theory. We stratified inselbergs by landform and assessed the relevance of patch size, matrix, habitat complexity and hierarchy theories in explaining reptile responses. Regression modelling was used to relate species richness, abundance and diversity to theory and habitat variables.

We found all theories to be generally applicable in interpreting reptile responses in this system but certain habitat attributes needed to be measured carefully to accurately predict reptile responses. We found that reptile species richness and diversity were congruent with predictions of patch size (island biogeography theory) and habitat structure (complexity theory), although both concepts were confounded by landform. Matrix condition had a significant influence on reptile diversity with low predicted values in relictual landscapes.

At the outcrop patch‐level, reptile diversity was negatively related to exotic grass cover, stem density, vegetation structure and grazing intensity, whereas native grass cover and total rock cover increased diversity.

Synthesis and applications. The conservation of rock‐dwelling reptiles in fragmented agricultural landscapes worldwide can be guided by concepts based on landscape ecology and will involve strategic management of ‘inselberg landscapes’, by addressing issues relevant to both the outcrop and surrounding matrix. Thus, matrix (landscape‐level) management should focus on maintaining maximum habitat heterogeneity, whereas outcrop (patch‐level) management will require controlling grazing regimes, invasive weeds and woody regrowth, thereby maintaining solar infiltration levels necessary for reptile thermoregulation.
Barriers to use of information and computer technology by Australia’s nurses: a national survey
Authors: Eley Robert , Fallon Tony , Soar Jeffrey , Buikstra Elizabeth , Hegney Desley
Published: October 2008

Aims and objectives.  To support policy planning for health, the barriers to the use of health information and computer technology (ICT) by nurses in Australia were determined.

Background.  Australia, in line with many countries, aims to achieve a better quality of care and health outcomes through effective and innovative use of health information. Nurses form the largest component of the health workforce. Successful adoption of ICT by nurses will be a requirement for success. No national study has been undertaken to determine the barriers to adoption.

Design.  A self‐administered postal survey was conducted.

Method.  A questionnaire was distributed to 10,000 members of the Australian Nursing Federation. Twenty possible barriers to the use of health ICT uptake were offered and responses were given on a five point Likert scale.

Results.  Work demands, access to computers and lack of support were the principal barriers faced by nurses to their adoption of the technology in the workplace. Factors that were considered to present few barriers included age and lack of interest. While age was not considered by the respondents to be a barrier, their age was positively correlated with several barriers, including knowledge and confidence in the use of computers.

Conclusions.  Results indicate that to use the information and computer technologies being brought into health care fully, barriers that prevent the principal users from embracing those technologies must be addressed. Factors such as the age of the nurse and their level of job must be considered when developing strategies to overcome barriers.

Relevance to clinical practice.  The findings of the present study provide essential information not only for national government and state health departments but also for local administrators and managers to enable clinical nurses to meet present and future job requirements.
‘A pacemaker in my heart’– classification of questions asked by pacemaker patients as a basis for intervention
Authors: Rassin Michal , Zilcha Lia , Gross Dalia
Published: October 2008

Aims.  The research aimed to identify the information patients find necessary, following pacemaker implantation.

Background.  Although pacemaker devices do not have an adverse impact on lifestyle, they evoke anxiety related to the patient’s activities and lifestyle.

Design.  Survey.

Methods.  A convenience sample of participants was taken from the entire population of patients who attended the cardiology clinic between January–June 2007; 274 individual meetings were held with 123 pacemaker patients in three periods, reflecting different stages of recovery. In the meeting, patients were invoked to ask any question they may have regarding pacemaker implantation. The questions were collected from the patients and categorised chronologically, in accordance with their frequency in three periods, reflecting different stages of recovery.

Results.  Eight categories, representing common issues and content were raised: motion and effort, environmental influences, personal hygiene, knowledge concerning the pacemaker operation, medical treatment, eating and drinking, clothing and general questions. Findings show that the common factor for most of the questions was the loss of confidence in the various aspects of life. The largest relative question proportion was in the motion and effort (27%) (e.g. may I swim? how many kg may I lift?) and environmental influences (26%) (e.g. may I use a cellular phone? may I use a shaving machine?).

Conclusions.  A coherent, continuous pattern was found, characterising the different points of measurement where, at the first point, questions were characterised as more existential, related to daily routine activities and as time passed and patients were exposed to non‐daily activities and conditions, other questions were raised.

Relevance to clinical practice.  Pacemaker implant guidance should be based upon experimental evidence, arranged according to each category’s relative weight and take into account the patient’s point of view.
Caring for people with type 1 diabetes mellitus engaging in disturbed eating or weight control: a qualitative study of practitioners’ attitudes and practices
Authors: Tierney Stephanie , Deaton Christi , Whitehead Julie
Published: October 2008

Aims and objectives.  To explore the attitudes and practices of hospital‐based healthcare professionals toward people with type 1 diabetes mellitus (T1DM) exhibiting disturbed eating or weight control.

Background.  Eating disturbances and insulin manipulation are common among individuals with T1DM, although little is known about how these behaviors are assessed and managed in practice.

Design.  Qualitative study.

Methods.  Face‐to‐face, semi‐structured interviews were conducted with 20 professionals from four hospitals in England, all of which were taped and transcribed verbatim and analysed using a framework approach.

Results.  Four main themes were identified from the data collected, which related to the classification, detection and treatment of eating disturbances among people with T1DM and professionals’ lack of training in this area. For example, interviewees were unclear about what should be considered ‘disordered’ eating among individuals with T1DM. Participants described a paucity of immediately available services to which individuals could be referred, if they were felt to require extra help, and stated that they felt uncertain about managing these patients without outside support because of their limited training in the treatment of eating disorders.

Conclusions.  A lack of clarity as to what constitutes a problem among those with T1DM in relation to eating and weight control and an absence of follow‐up services for them contributed to a sense of anxiety expressed by interviewees when faced with such a patient.

Relevance to clinical practice.  Effective interventions addressing dangerous eating or weight control in people with diabetes are sorely needed, as is better training of healthcare professionals on this topic.
Factors influencing Macao nurses’ intention to leave current employment
Authors: Chan Moon Fai , Luk Andrew Leung , Leong Sok Man , Yeung Siu Ming , Van Iat Kio
Published: October 2008

Aims.  To investigate factors associated with nurses’ intention to leave current employment in Macao.

Background.  The shortage of nursing staff and nurses voluntarily leaving their jobs has continued to be a problem affecting the delivery of health care all over the world. One way to alleviate this shortfall is via recruitment, but this is not always successful. Another way is to reduce the rate at which nurses voluntarily leave their work places.

Design.  A descriptive survey was conducted and data were collected using a self‐reported structured questionnaire. Nurses were recruited in the Health Bureau and one private hospital in Macao. The status of nurses’ intention to leave current employment (yes vs. no) was the dependent variable and nurses’ predisposing characteristics, organisational environments and five components on job satisfaction outcomes were independent variables.

Results.  Of 426 nurses, 166 (39·0%) indicated an intention to leave current employment. The results showed that age (p < 0·001), work experience (p < 0·001), workplace (p = 0·015) and job satisfaction: pay and benefits (p < 0·001) were significant risk factors to predict nurses’ intention to leave current employment.

Conclusions.  More than one‐third of the nurses in Macao indicated an intention to leave current employment. This figure may be a cause of concern for the hospital management and highlights the need to implement strategies to improve the communication between nurses and the organisation, to enhance nurse job satisfaction and commitment to the organisation.

Relevance to clinical practice.  Our findings outline some issues contributing to this problem and provide the nurse manager with information regarding specific influences on nurses’ turnover in Macao. Given the complexity of issues outlined in this analysis, nurse managers should assist their nursing staff to deal with those influences, make efforts to address the nursing shortage that will require additional communications and recognise the needs and values of their staff and empower them to create a better work environment. As a consequence, their commitment to the organisation can be fostered.
The neurobiology and genetics of eating and weight regulation
Authors: Hebebrand J.
Published: October 2008

Over the past 15 years tremendous advances have been made in the elucidation of pathways relevant to eating behaviour and body weight regulation. It has become evident that these pathways are intricately interwoven with those underlying mood and anxiety regulation, motor activity, cognition, sleep, fertility and libido. In addition, advances have been made in determining genetic variation underlying inter‐individual differences in body weight. To illustrate these novel findings we will focus on:

1) Monogenic and oligogenic obesity: The underlying genes were initially detected in animal models. Based on mutation screens of the human homologues functionally relevant mutations were detected in the genes coding for leptin, its receptors and the melanocortin‐4 receptor (MC4R). The effect of such mutations is large. Leptin gene mutations lead to hyperphagia and subsequently obesity. Hyperphagia, albeit of a substantially reduced magnitude, has also been observed in obese children with mutations in the MC4R.

2) Polygenic obesity: The advent of genome wide association studies has led to the detection of single polygenes, among which FTO features prominently. Typically, a variant predisposing to obesity accounts for a body weight elevated by on average 200 to 1500 grams. Such polygenes act in concert to account for inter‐individual differences in body weight.

3) Leptin has been shown to have profound implications for anorexia nervosa. Serum leptin levels in this eating disorders are annormaly low. The hypoleptinemia entails a down‐regulation of the hypothalamic‐pituitary‐gonadal‐axis, which underlies the amenorrhea characteristic of anorexia nervosa. Furthermore, the hypoleptinemia induces hyperactivity in a rat model of anorexia nervosa. In patients, leptin levels are inversely correlated with activity levels.
The Tom Oppe Lecture: Behavioural phenotypes and child psychiatry
Authors: Steinhausen H.‐C.
Published: October 2008

The concept of a behavioural phenotype was first introduced by Nyhan (1972) when he described a characteristic behaviour of self‐mutilation in Lesch‐Nyhan‐Syndrome. Later, Flint and Yule (1994) pointed out that a behavioural phenotype is a characteristic pattern of motor, cognitive, linguistic and social abnormalities that is consistently associated with a biological disorder. In some instances the behavioural phenotype may represent a psychiatric disorder, in others there may be behaviours that usually will not be regarded as a psychiatric disorder.

Dykens (1995) added that a behavioural phenotype may best be described as the heightened probability that people with a given syndrome will be characterized by certain behavioural sequelae. The implications of this are (i) that there is a certain amount of within‐syndrome variability, (ii) that there is total vs. partial specificity of certain behaviours, (iii) that behavioural phenotypes relate to various behavioural domains, (iv) that behavioural phenotypes have indirect effects on the behaviour of caretakers, and (v) that developmental and contextual factors in addition to genetic factors contribute to behavioural phenotypes (Hodapp & Dykens, 2007). The rather recent interest in the concept of behavioural phenotypes has renewed the interest of Child and Adolescent Psychiatry in intellectual disability issues that had been lost for decades. It also increased interest in the genetic origins of mental disorders and behavioural abnormalities with an interaction of two major recent scientific developments in the field. One of these trends is represented by the rapid progress in molecular biology that has led to a better understanding of the genetic mechanisms contributing to psychopathology. The other trend is based on the development of more and more refined instruments for the dimensional assessment of adaptive and maladaptive behaviours which have supplemented the classical categorical approach of assessment in child psychopathology. With this theoretical underpinning, the study of behavioural phenotypes has become an attractive research domain in child and adolescent psychiatry. In addition, there are also practical implications in terms of improving communication among experts and lay‐person both on assessment and counselling.
The Paradox of Prader Willi Syndrome: A genetic model of starvation
Authors: Holland A. J.
Published: October 2008

Aims: To review the mechanisms that may explain the excessive eating behaviour observed in people with Prader Willi Syndrome (PWS) and the change in the ‘behavioural phenotype’ noted in infancy. Methods: The findings from different studies will be reviewed including those using direct observation and behavioural measures, those involving brain scanning technologies, and studies investigating the peripheral and hypothalamic feeding pathways. Results: Abnormalities of eating behaviour are universally found in people with PWS. The change from a failure to thrive in infancy to the later phenotype (characterized by excessive eating behaviour), occurs gradually from as early as one year of age. Underpinning the over‐eating behaviour is an abnormal satiety response to food intake with limited changes in feelings of hunger and fullness after normal or excessive food intake, and an absence of changes in patterns of brain activation, measured using PET and MRI scanning technologies, which are observed in people without PWS. Whilst abnormalities have been observed in the peripheral feeding pathway (increased levels of the appetite stimulating hormone ghrelin) at present the cause of the abnormal satiety response in PWS remains unclear. Discussion: In an hypothesis paper published in 2003 we proposed that these various observations, when taken together with the observed relative insufficiency of sex and growth hormones, could be explained by people with PWS responding as if in a state of chronic starvation. The difference for people with PWS was that they lived in a food rich, rather than a food poor environment. We hypothesized that this model of starvation could also explain the early phenotype and the intellectual disabilities observed.
The relationship between a deficit in attention switching and specific behaviours in Prader‐Willi syndrome
Authors: Woodcock K. A. , Oliver C. , Humphreys G. W.
Published: October 2008

Background: We aimed to investigate the causes of phenotypic behaviours in Prader‐Willi syndrome (PWS). Interviews with carers of 46 children with PWS suggested that frequent temper outbursts and repetitive questions were related to a resistance to change. In a group comparison with FraX and typically developing children, PWS children showed a specific deficit in attention switching (direct assessment), which was correlated to informant scores of resistance to change and repetitive questions. We aimed to investigate neural correlates and hypothesized behavioural effects of the PWS deficit in attention switching. Method: Multiple single case experimental designs were employed with four individuals with PWS. Cognitive challenges placed demands on attention switching or controlled for these demands. Changes to routines or expectations were presented during controlled games, or imposed on participant’s natural environments, and compared to corresponding sessions when no changes were imposed. Behaviour was recorded and physiological arousal was estimated using heart rate measurements. Eight participants with PWS were compared to age and gender matched controls. Structural T1, T2 and diffusion weighted images were acquired in a Philips T3 MRI scanner. T2* weighted functional images were acquired in a block design (eight presentations of each block per participant) with alternating switching and non‐switching blocks. Results: In the single case experiments, significantly increased temper outburst related behaviours (p < 0.05) and arousal (decreased heart rate variability: p = 0.042) were shown in switching verses control challenges. Significantly increased temper outburst related behaviours were also shown when changes were imposed versus when no changes occurred (p < 0.03). Structural images suggest abnormalities in specific frontal regions in individuals with PWS and functional images revealed significant differences in switch‐related activation in individuals with PWS compared to controls. Conclusion: We propose a directional relationship between specific neural abnormalities, cognitive deficit and behaviour in PWS via particular environmental and physiological interactions.
Newborn screening in Fragile X syndrome
Authors: Tassone F. , Hagerman P. J. , Hagerman R. J.
Published: October 2008

Background: Screening for the FMR1 mutations has been a topic of considerable discussion since the FMR1 gene was identified. However, Fragile X has not been recommended for newborn screening mainly because of the lack of an accurate screening test and of data on potential benefits. We have recently developed an improved Polymerase Chain Reaction (PCR) method for the identification of premutation and full mutation alleles for the FMR1 gene. Method: The method is inexpensive, accurate and quick and can be performed on a number of sample templates including, importantly, blood spots. We have applied this method for international screening. Specifically, we have screened 5267 anonymous blood spot samples from newborn males from the centre‐northwest region of Spain. We have also used this technology to a pilot ‘high risk’ screening program of individuals with autism and/or intellectual disabilities and family members of a proband with fragile X initiated in Guatemala. This project is a prototype for future screening endeavours. Results: One important outcome from this study is that the frequency of premutation alleles (1 per 250) appears to be higher than previously reported. This is of importance, especially in view of the different phenotypic involvement observed in carriers of premutation alleles, including neurological problems such as FXTAS. Here, we present data on the frequency of premutation/full alleles found in this population and their size distribution. Conclusion: This project is a prototype for future screening endeavours. Results from our pilot program in both Spain and Guatemala will lend strong support for implementing this technology for rapid screening to a much larger scale population screening.
Melatonin is effective in treating sleep problems in Angelman syndrome but problems in metabolising melatonin may be part of the Angelman phenotype
Authors: Braam W. , Smits M. G. , Didden R. , Curfs L. M. G.
Published: October 2008

Background: Sleep problems are frequent in Angelman syndrome and often severe. Previous studies suggested that melatonin improves sleep in insomniac patients with Angelman syndrome. Method: We performed a randomized placebo‐controlled study in eight children with Angelman syndrome with chronic insomnia. Patients received, depending on age, either melatonin 5 or 2.5 mg, or placebo. Parents recorded lights off time, sleep onset, night wakes, wake‐up time and epileptic seizures in a diary. After the 4‐week placebo controlled phase of the study, all patients received 4 weeks open treatment with melatonin. We present data on these eight patients and 20 new AS patients that we treated in our clinic and did not describe in this study. Results: In our randomized study melatonin significantly advanced sleep onset by 28 min., decreased sleep latency by 32 min., increased total sleep time by 56 min., reduced the number of nights with wakes from 3.1 to 1.6 nights a week. After 4 weeks of open treatment however, there was in some patients a tendency to a reduction in therapeutic gain. Salivary endogenous melatonin levels, measured at baseline and at the last evening of the fourth treatment week when no study medication was taken, showed a marked increase. In AS patients in whom the melatonin lost its effect, melatonin levels had become extremely high, whereby the normal 24h melatonin rhythm was lost. Discussion: Four weeks of melatonin treatment in Angelman syndrome children with chronic insomnia was more effective in decreasing sleep latency, advancing sleep onset, reducing number of night wakes and increasing total sleep time than placebo. However, after several weeks melatonin lost its beneficial effect in most AS patients. We found indications that melatonin metabolism in AS is disturbed and that this possibly is part of the AS phenotype.
Hypersomnolence in Prader Willi Syndrome
Authors: Heussler H. , Harris M. , Cooper D. , Dakin C. , Suresh S. , Williams G.
Published: October 2008

Background: Children with Prader Willi syndrome (PWS) are at risk of sleep disordered breathing involving central and obstructive components. PWS patients are known to have abnormal responses to hypoxia and hypercapnoea, an increased incidence of Obstructive Sleep Apnoea [OSA] and hypersomnolence when older not explained by obesity alone. As infants, many present with delay in central control of breathing during sleep. Hypersomnolence and indeed narcolepsy have been reported in this group of patients. Modafinil is a wake promoting agent but a pharmacological profile that is distinct from sympathomimetic amines, which increase wakefulness by other mechanisms. Modafinil does not bind to most of the potentially relevant receptors for sleep/wake regulation, including those for noradrenaline, serotonin, dopamine, GABA, adenosine, histamine‐3 and benzodiazepines. Methods: Polysomnography (PSG) and multiple sleep latency testing [MSLT] was performed on PWS children attending a multidisciplinary clinic. Children who met criteria for narcolepsy were treated according to narcolepsy guidelines. Those who were hypersomnolent were assessed and three patients were trialed on Modafinil (a novel wake promoting agent). Results: Three children were studied, aged 7–13 years. Two were treated within a placebo controlled cross‐over design. There was a significant difference in behavioural parameters as measured by teacher and parent. The other had significant hypersomnolence with a BMI in the obese range. Treatment resulted in a dramatic improvement in behaviour, activity and BMI. Conclusion: Children with Prader Willi syndrome and hypersomnolence may benefit from treatment with modafinil.
Developmental aspects of sleep in Prader Willi Syndrome
Authors: Heussler H. , Suresh S. , Harris M. , Cooper D. , Dakin C. , Williams G. , Wilson S.
Published: October 2008

Background: Children with Prader Willi syndrome (PWS) are at risk of sleep disordered breathing involving central and obstructive components. PWS patients are known to have abnormal responses to hypoxia and hypercapnoea, an increased incidence of Obstructive Sleep Apnoea [OSA] and hypersomnolence when older. As infants, many present with delay in central control of breathing during sleep and resultant hypoxia. This may have long term consequences for the phenotype. Methods: Polysomnography (PSG) and multiple sleep latency testing [MSLT] was performed on PWS children attending a multidisciplinary clinic. Sleep disorders and age of presentation were identified. EEG spectral analysis on infants was undertaken and compared to a group of typically developing infants. Genotype was established. Results: Results suggest that in children less than 2 years central hypoventilation is present in 100%. 10% of children older than five had normal studies and the rest had OSA+/central hypoventilation. 10% had central hypoventilation and hypersomnolence. Twenty‐five children under 12 months of age were analysed separately. Improvements in central hypoventilation were seen in some infants as they matured. The relationship between this and development of mature EEG patterns was examined and is significantly different to EEG spectral analysis of normal infants studied at 3, 6 and 12 months. This was also related to the genotype of each infant. Conclusion: Infants with Prader Willi have a delay in neural maturity as reflected by EEG development of defined EEG sleep stages. All infants with Prader Willi should have a sleep study in infancy and appropriate therapy instigated if required. Hypersomnolence is generally associated with other sleep disorders.
Investigating sleep architecture in Angelman, Cri du Chat and Cornelia de Lange syndromes
Authors: Petty J. , Oliver C. , Moss J. , Howlin P. , Tunnicliffe P. , Griffith G. , Hastings R.
Published: October 2008

Background: Little is known about sleep architecture in Angelman (AS), Cri du Chat (CdC) and Cornelia de Lange (CdLS) syndromes although sleep problems are commonly reported by parents of children with AS and CdC syndromes. Given the broad similarity of these syndromes we compared sleep architecture and parental reports of sleep problems across the syndromes. Method: Actigraph data were collected on children with AS, CdC or CdLS syndromes aged between 4 and 19 years (AS, mean age 6.67 years; CdC, mean age 9.13 years and CdLS, mean age 9.75 years) over 4 to 8 days (mean 6.4). Two children with AS were currently taking melatonin for sleep problems. A questionnaire regarding sleep (Simonds & Parraga, 1982) was completed by caregivers. Results: The CdLS group slept for longer than the AS and CdC groups (CdLS median: 8.31 hours, range: 7.1–9.3; AS median: 7.13 hours, range: 5.04–9.37; CdC median: 6.98 hours, range: 2.35–8.29) and showed less activity during the night than the AS and CdC groups (CdLS median: 18.79, range: 8.78–29.5; AS median: 38.15, range: 17.99–179.53; CdC median: 27.54, range: 15.63–358.11). Across the groups, 75% of parents reported that their child had a sleep problem and those children whose parents reported that they had sleep problems were awake for longer during the night than those without a sleep problem and this difference approached significance (U = 3.00, N = 12, p = 0.052). Parents of children with CdLS were less likely to report a sleeping problem than parents in the other two groups (CdLS: 33.3%, AS: 100%, CdC: 83.3%). Conclusion: Children with CdLS appear to demonstrate fewer sleep problems than children with AS and CdC and show consistent patterns of sleep within the group whilst the AS and CdC groups are noticeably more varied. Of clinical interest is the finding that two children with CdC were sleeping for a mean of 2.35 and 3.58 hours per night.
Psychiatric disorders in people with 22q11.2 Deletion Syndrome: A population‐based prevalence study in Ireland
Authors: Prasad S. E. , Howley S. , Murphy K. C.
Published: October 2008

Background: 22q11.2 Deletion Syndrome (22q11.2 DS) is a common micro‐deletion syndrome associated with intellectual disability, brain abnormalities and a complex spectrum of psychiatric disorders in both adults and children. Many previous studies have shown that adults with 22q11.2 DS have approximately thirty times greater risk for the developing schizophrenia compared to the general population. Furthermore, studies of children and adolescents with 22q11.2 DS have found high rates of psychotic symptoms, ADHD and anxiety disorders. In this study we initially aim to characterize the psychiatric and neuropsychological phenotype of all individuals in Ireland with 22q11.2 DS and then correlate our findings with genetic association studies and brain imaging. We then intend to undertake a longitudinal study to assess for risk factors of future psychotic illness. Methods: Forty‐four individuals with 22q11.2 DS (Mean age = 14 years, SD = 9) were compared to 25 non‐affected sibling controls (Mean age = 12 years, SD = 4). Psychiatric phenotype assessment was performed using a range of standardized clinical assessments including, the Diagnostic Interview Schedule for Children (DISC), Psychotic Supplement of K‐SADS, Comprehensive Assessment of At Risk Mental State (CAARMS), the Schedule for Clinical Assessment in Neuropsychiatry (SCAN), Child Behaviour Checklist (CBCL) and the Social Communication Questionnaire (SCQ). Results: Preliminary data indicates that individuals in the 22q11.2 DS group have a higher prevalence of psychiatric disorders including; ADHD (41%), psychotic symptoms (19%), schizophrenia (2.7%), specific phobias (38%), depressive episodes (11%), and anxiety disorders (32%). Conclusion: This is the first stage in a longitudinal follow‐up study of individuals with 22q11.2DS in Ireland. Our preliminary results are consistent with previous findings of high rates of psychiatric disorders in people with 22q11.2DS. The challenge remains to identify precursor symptoms in childhood that predicts the later development of psychiatric disorders, particularly schizophrenia in this vulnerable group.