Profiles of sleep disturbance and sleep quality of children with the specific neurodevelopmental disorders of Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC) and the relationships between behavioural and health characteristics, age and sleep were described in these groups. Interview data demonstrated that children with AS's sleep disturbance had a negative impact on both parents and children. A homogeneous sleep disturbance profile of severe night waking and early morning waking affected over 70% of children with SMS but more heterogeneous profiles were found for children with AS, TSC and ASD using cross-group questionnaire data comparisons and when compared to typically developing (TD) children. A heightened risk of sleep-related breathing disorders was identified for children with AS and SMS. Compared to TD children, children with SMS had significantly earlier morning wake times and children with AS and SMS had significantly earlier bedtimes according to actigraphy and sleep diary data. Increased daytime sleepiness in children with SMS was associated with increased overactivity and impulsivity. This thesis includes the largest samples of actigraphy data for children with SMS and AS to date. The importance of aetiology of intellectual disability in the profiling of sleep disturbance was evidenced. Areas for further assessment and intervention include sleep-related breathing disorders for children with AS and SMS and individualized assessment of circadian rhythm disorders for both groups.

Background and aims: Leukaemia is a cancer of the blood and is the most common type of childhood cancer with almost 500 new cases every year in the UK. There is a vast amount of research exploring the experiences of parents of children with cancer, however, there is less research focussed on parents whose children are in the maintenance phase of Acute Lymphoblastic Leukaemia (ALL) treatment. This treatment phase usually occurs in the first or second year following diagnosis but can start much earlier. The maintenance phase still involves active treatment but with less visits to and stays in hospital. At this stage, parents have been through the most intense segment of the treatment regimen and may have encountered various Khalighyprotocol may therefore have valuable advice to provide to other parents regarding coping and useful supports. This study aimed to explore the coping style and patterns of accessing support in mothers and fathers who have a child diagnosed with ALL and who are in the maintenance phase of treatment. The aim was also to explore whether there were differences between mothers and fathers with regards to coping and support. Methods: Three mothers and two fathers were interviewed separately using a semi structured interview. These interviews were then transcribed and analysed using interpretative phenomenological analysis (IPA). Results: Four main themes were identified through interviews with parents: the parental role; internal coping strategies; external coping strategies; and looking to the future. Conclusions: Parents were found to use a variety of coping strategies and accessed various sources of support to help them to deal with their child’s ALL diagnosis. These coping strategies could be shared with parents who are new to the haematology service. There were however, significant difficulties with recruitment which means it was not possible to compare mothers and fathers in terms of coping style and types of support accessed. This highlights that the recruitment strategy needs revising if further research is to be conducted in this area.

Background: Reducing neonatal mortality rates [NMR] (deaths/1,000 live births within 28 days of delivery) is a key global health goal. Using comparable data from Ghana (West Africa) and Scotland, I investigated NMR, specific causes of death and risk factors in the two countries. By identifying the main causes of excess mortality in Ghana and where they occur, it is hoped more effective strategies can be developed. Methods: This thesis used a multilevel mixed methods study design. Data on live births were obtained from three Health and Demographic Surveillance Systems (HDSS) in the north, middle and south of Ghana respectively: Navrongo (2004-12; 17,016 live births, 320 deaths); Kintampo (2005-10; 11,207 live births, 140 deaths); Dodowa (2006-14; 21,647 live births, 135 deaths). Comparable Scottish data were obtained from the Information Services Division (1992 to 2015; 1,278,846 live births, 2,783 deaths). Each dataset was analysed by neonatal death (dead/alive), using univariate and multivariable logistic regression. The multivariable analyses adjusted for maternal demographic and obstetric characteristics. Missing data were analysed using multiple imputation techniques. Data analyses were complemented by a researcher-developed questionnaire survey of 71 maternity care providers in the three regions of Ghana followed by face-to-face in-depth interviews with 48 maternity care providers who had experience of prematurity, birth asphyxia, neonatal infection and neonatal death. Results: The NMRs in the three HDSS were: Navrongo: 18.8; Kintampo: 12.5; and Dodowa 6.2 and in Scotland it was 2.2; the NMR in both countries is reducing. More than 99% of the neonatal deaths in Scotland occurred in the first week compared to 74% in Ghana. The leading causes of neonatal deaths (NMR) in Ghana were infection (4.3), asphyxia (3.7) and prematurity (2.2). In Scotland, they were congenital malformations (0.6), asphyxia (0.4) and prematurity (0.3). Only 88 deaths (0.07) of neonatal deaths in Scotland were due to infection. Ninety-eight percent of babies born in Scotland were born in a health facility compared to 60% of babies born in Ghana (hospital: 38.1%; clinic: 21.1%). In Ghana, babies born in hospitals had a higher risk of neonatal mortality compared to those born at home (NMR-hospital: 15.6; clinic: 7.1; home: 11.8). Most of the neonatal deaths in Ghana occurred at home (54%); there were more deaths among babies who were born in a hospital but died at home (hosp/home) compared to those born at home but died in a hospital (home/hosp). Asphyxia was the leading cause of death among hosp/hosp, and infection was the leading cause of death among hosp/home, home/home and home/hosp. Neonatal mortality in Ghana was largely influenced by where mothers sought maternity service, or the type of personnel who provided maternity care service. Mothers and babies who were cared for in hospitals by doctors and midwives received relatively better care and proper management of birth complications. Those who were cared for in clinics received basic delivery services and management of uncomplicated asphyxia. Mothers and babies who were cared for at home by traditional birth attendants (TBA) received poor care and poor management of neonatal illnesses based on traditional approaches which increased the risk of death. Women’s maternity choices were influenced by wider societal factors including prominent cultural values, family hierarchical structures and the cost of maternity services, and individual/ family factors including place of residence and availability of transport and beliefs about the cause of disease. Conclusion: There is considerable opportunity for reducing NMR in Ghana, especially deaths due to asphyxia and infections. Most uncomplicated deliveries should be performed by midwives in community clinics. The number of community maternity clinics should gradually be increased to enable home deliveries by TBAs to be phased out. Facilities should be improved for delivery and postnatal care in hospitals and the proportion of sick babies managed by health care workers trained in their care should be increased. Regular postnatal checks in the community by trained staff should be standard.

This thesis explored internal and external predictors of fruit and vegetable intake in children of different age groups. The first sample were toddlers between 2-3 years old and the second sample were children between 5-9 years old. Intake of fruit was analysed separately from intake of vegetables, and subgroups of fruit and vegetables with strong sensory properties were also analysed separately. The results showed that in the older sample lifetime exposure to variety of different fruit and vegetables was positively associated with quantity and diversity of fruit and vegetables consumed. In toddlers, liking of fruit and vegetables was not directly linked to their intake. In children of less controlling mothers fruit liking was positively associated with fruit intake and children of the more controlling mothers ate fruit independent of fruit liking. Past history of middle ear infections may affect adiposity and fruit and vegetable intake. Finally, individual levels of sensitivity to sweet taste may affect adiposity and intake of cruciferous vegetables and non-astringent fruit in school-age children. Parental intake was the strongest predictor of intake in both age groups. The results of this thesis show that fruit and vegetables have different predictors of intake and need to be considered separately.

Inherited metabolic diseases (IMD’s) are a large class of heterogeneous genetic disorders caused by dysfunction within a single pathway of intermediary metabolism. In many of these diseases, the dysfunction of metabolic enzymes leads to the accumulation of toxic metabolites which disrupts the normal development of the central nervous system. With the advent of treatments that positively influence neuropsychological outcomes, there is a need for sensitive and objective neuropsychological measures that allow patients to be systematically tracked in order to understand the efficacy of existing treatments. In this thesis, a neuropsychological test battery consisting of attention, language and oculomotor measures was developed to accurately describe individual and developmental differences between IMD patients and healthy developing controls. The functioning of five diseases was examined: Morquio syndrome (\(N\) = 12), Hurler syndrome (\(N\) = 3), Maroteux-Lamy syndrome (\(N\) = 2), Tyrosinemia type I (\(N\) = 13) and Tyrosinemia type III (\(N\) = 5). Findings indicated that disease effects were not homogeneous across tasks, and that performance on the same tasks was not uniform across diseases. The obtained data offers a promising basis for understanding how biological factors influence the severity and timecourse of developmental effects in future research.

Children are largely ignored in medical ethics, which concentrates on adults with capacities that children lack (including competence, or rationality). This thesis answers how medical decisions should be made for unquestionably incompetent children. The dominant approach to medical ethics in the West depends on respect for autonomy and this distorts medical ethics for children in two ways. Firstly, parental decisions for children may be taken to have the same authority as respect for autonomy. Secondly, theories of general well-being have focused on adult’s well-being with an endorsement of the components of that well-being by the adult themselves. This has hindered the development of an objective, impartial, conception of interests, arguably, the best fit for making decisions for very young children. I argue that although children are clearly demarcated from adults in medical ethics, there is not a clear explanation of why this is. For young children others must make decisions or be prepared to override the child’s decisions. More recently, the distinction between adults and children have become blurred, exemplified by the use of terms such as ‘young person’. Children’s rights at best draw attention to children and their interests, but do not help in resolving the medical treatment of incompetent children. The most promising approach depends on articulating an account of children’s interests. For several reasons the best interests standard is not defensible. I argue that a reasoned, or reasonable, agreement upon the child’s interests should determine medical treatment. Neither the child’s parents (nor the clinicians) can be taken to have an incorrigible grasp of the child’s interests, all should justify the reasons for their choices.

Objectives: The process of service intensity (SI) or level of care (LOC) determination regarding mental health services has a problematic history. There is a need for reliable and valid SI/LOC determination tools for youth in the child welfare system. Methods: In 2004 and 2005, the Tennessee Child Program Outcome Review Team (CPORT) reviewed 437 children and youth in the child welfare system (277 in state custody, 160 at risk of custody) of whom 61.6% were male, 64.8% Caucasian and 28.4% African American. Instruments used included the CASII, CAFAS, CBCL, YSR, TRF, and the CPORT Child and Family Indicators. Results: All CASII subscales significantly correlated to the CAFAS Total Scores (Pearson coefficients 0.225 to 0.454). The CASII Total Score and the CASII SI determinations were highly correlated to CBCL, YSR, and TRF total and sub-scales. Significant correlations between the CASII SI determinations were found across all of the 13 CPORT Child and Family Indicators, while actual placement significantly correlated with only three of the 13 dimensions. The actual SI/LOC placements were significantly divergent from the placement recommendations derived using the CASII instrument (p < 0.000) with the majority of CASII SI/LOCs recommendations being for less restrictive placements. Conclusions: The CASII SI/LOC tool demonstrates high levels of reliability and validity in multiple care contexts, including child welfare, juvenile justice, and mental health settings. Expanded use of the CASII could potentially result in less restrictive, more appropriate, and less costly services becoming available to youth in these systems.

Diss. (sammanfattning) Stockholm : Karolinska institutet, 2007. / Härtill 5 uppsatser.

Diss. (sammanfattning) Umeå : Univ., 2006. / Härtill 4 uppsatser.

Diss. (sammanfattning) Stockholm : Karol. inst., 2006. / Härtill 5 uppsatser.