Childhood Chronic Illness Research Articles

The Relationship of the Degree of Impairment of the Structure and Function of the Liver with its Chronic Illnesses in Children

Our aim was to on the basis of determining the degree of violation of the structure and function of the liver establish their relationships and to assess the dynamics of liver disease in its chronic illnesses in children. With the help of the developed scoring systems were used to assess the degree of liver dysfunction and the degree of disruption of the structure of the liver and the severity of portal hypertension. The results of the diagnostic methods 252 children aged 1 to 17 years (mean age of 11.8±3,5) with Wilson disease (WD), autoimmune hepatitis (AIH), chronic hepatitis C (CHC) were analyzed; 48 patients underwent liver transplantation. In children with WD, AIHand CHC liverfunction reduced by 41.3±12.9% to 28.8±12.5% and 19.1±7.8% respectively. Structure of the liver in children with WD, AIH and CHC was disturbed by 25.0±8.1% to 20.4±9.2% and 6.8±4.4% respectively. Thefunction and structure violations of the liver more pronounced in liver cirrhosis. The use of the developed scoring systems to monitor the severity of liver damage in the dynamics and evaluation of the effectiveness of the therapy is demonstrated. The degree of liver dysfunction is directly dependent on the degree of its structure. Abnormal liverfunction ≥40% and ≥40% of its structure with treatment failure can be used as a criterion of indicationsfor elective liver transplantation with its chronic diseases in children. Developed a point system to determine liver function and a point system to determine disruption of the structure of the liver and the severity of portal hypertension in children can serve as an objective criterion for assessing the severity of liver disease, monitoring their changes in the dynamics with the assessment of the effectiveness of the therapy and making decisions about the need for routine liver transplantation in its chronic illnesses in children.

Health-related quality of life for chronically ill children.

Approximately 43% of children in the United States (32 million) are currently living with at least 1 of 20 common chronic childhood illnesses. The most common chronic childhood illnesses are asthma, cystic fibrosis, diabetes, obesity, malnutrition, developmental disabilities, cerebral palsy, consequences of low birthweight, and mental illness. For all chronically ill pediatric populations, the outcome of health-related quality of life (HRQOL) is particularly important because many of these children have not and will not be cured, and will continue to manage their chronic illness into adulthood. Advances in biomedical science and technology continue to improve efficacy of treatments and care for chronically ill children, adolescents, and their families, which highlight the importance measurement of HRQOL as a treatment and health status outcome. The construct of HRQOL is subjective, multidimensional, dynamic, and unique to each individual. It includes aspects of physical, psychological, social function, and goal attainment. Outcomes of HRQOL now include the financial implications for these children and their families, as well as financial and organizational consequences for healthcare planning and delivery of services.This article reviews the importance of HRQOL as a health outcome for chronically ill children. A historical overview and synthesis of the conceptualization and measurement of HRQOL for the chronically ill pediatric population is provided. Current research investigations that have measured health outcomes using individual scales tailored to children's specific symptoms health outcomes, such as PROMIS®-Patient Reported Outcomes Measurement Information System-are reviewed. The clinical applications of HRQOL outcomes research include facilitation of patient-healthcare provider communication, improved patient satisfaction, identification of hidden morbidities, a positive impact on clinical decision making, and improvement of patient outcomes over time.

An introduction to the special issue on peer relations in youth with chronic illness.

Although estimates of the number of children afflicted with chronic illness vary widely, in part due to the difficulty in defining what constitutes a chronic illness, it is clear that most chronic illnesses are on the rise among children (Centers for Disease Control and Prevention, 2009; Van Cleave, Gortmaker, & Perrin, 2010). By definition, these illnesses persist; thus, it is important to examine factors that influence how children live with and manage chronic disease. One potential determinant is the social environment. According to Bronfenbrenner’s social ecological theory (1986), there are different contextual levels of the social environment, ranging from the immediate social environment to the macrosystem, which emphasizes the larger cultural context. Within the microsystem, the social context most often studied in relation to childhood chronic illness is the family. There is a substantial body of research showing that the family plays an important role in how a child adjusts to different chronic illnesses (Helgeson & Palladino, 2012; Kazak, Schneider, & Kassam-Adams, 2010). Another important facet of that microsystem that is widely acknowledged by researchers to play a role in children’s adjustment to chronic illness is peer relationships. Despite widespread agreement that peer relationships are important to children and become increasingly important as the child moves through adolescence into adulthood (Fuligni, Eccles, Barber, & Clements, 2001; Larson & Verma, 1999), there is much less research on the role of peer relationships in childhood chronic illness. This dearth of research was the impetus for this special section. There are two primary questions one can ask in regard to the role of peer relationships in chronic illness. First, what is the impact of chronic illness on peer relationships specifically and social functioning more broadly? Second, what is the impact of peer relationships on psychological and physical health for those with chronic illness? The articles in the present issue address these two questions.

Health-related quality of life measurement in siblings of children with physical chronic illness: a systematic review.

The diagnosis of a physical chronic illness during childhood can cause stressors and changes within the family system that place family members at-risk for impaired functioning. The objective of the present study was to perform a systematic review on the health-related quality of life (HRQOL) of siblings of children with physical chronic health conditions. Three independent reviewers performed the search in the databases PsycINFO and PubMed, which resulted in 9 studies meeting full inclusion criteria. Overall, sibling HRQOL was better than children with a physical chronic illness. Parents of siblings of children with physical chronic illness tended to rate sibling HRQOL better than siblings self-reports. Greater disease severity emerged as a potential risk factor for impaired sibling HRQOL. These data underscore the importance of assessing sibling HRQOL in families with a child who has been diagnosed with a physical chronic illness. Future research is needed in this area with larger sibling samples and across a greater variety of childhood chronic illnesses.

Abstract 12926: Transition Readiness Assessment in Adolescents and Young Adults With Heart Disease: Can We Improve the Outcome?

Objective: Transition is defined as “the process by which adolescents and young adults with chronic childhood illnesses are prepared to take charge of their lives and their health in adulthood”. We previously reported common knowledge deficits and lack of transition readiness (TR) in 13-25 year olds with congenital or acquired heart disease. The aims of this study were to re-evaluate TR in these patients at follow-up (F/U) and to examine the relationship between changes in TR and quality of life (QOL). Methods: Patients (n=106) completed the TR Assessment and Pediatric Quality of Life Inventory (PedsQL) utilizing an e-tablet, web-based format at a routine F/U clinic visit. Changes from initial to F/U scores were evaluated. Results: Median patient age was 18.7 yrs at a median F/U time of 1.02 yrs. Average perceived knowledge deficit score (% of items with no knowledge) at F/U was 18.0 ± 15.2%, decreased from 24.7 ± 16.5%, p<.0001. On a 100-point scale, the mean score for self-efficacy increased from 71.4 ± 17.0 to 76.7 ± 18.2 (p=.004) and for self-management increased from 47.9 ± 18.4 to 52.0 ± 20.7 (p=.0004). While physical QOL did not change, the mean psychosocial QOL score increased significantly from 80.2 ± 13.3 to 82.5 ± 12.0, p=.02. A decrease in knowledge deficit score at F/U was significantly associated with an increased psychosocial QOL score, p=.03. An increase in self-efficacy score was associated with an increase in psychosocial QOL score (p=.04), especially social QOL (p=.02). Among patients who reported receiving specific information after initial TR assessment, knowledge deficits decreased related to medication (p=.002), symptoms to call for (p=.02), how to contact heart doctor (p=.02), and health insurance (p=.10). Self-efficacy scores improved in patients reporting receipt of information regarding how to contact the heart doctor (p=.06) and how to communicate with healthcare team (p=.05). Conclusion: While deficits in knowledge and self-management skills persist, TR assessment and recognition of deficits can improve transition readiness with improved psychosocial QOL. Routine TR assessment is important to identify transition needs. Further studies are needed to examine the relationship between TR and outcomes in young adults with heart disease.

Impact of Chronic Illness Timing and Persistence at School Entry on Child and Parent Outcomes: Australian Longitudinal Study

ObjectiveTo understand the prevalence and timing of child chronic illness at school entry; associations with child learning, behavior and health-related quality of life and parent mental health at ages 6 to 7, 8 to 9, and 10 to 11 years; and cumulative health care costs. MethodsData were drawn from the first 4 waves of the Longitudinal Study of Australian Children. Children were aged 4 to 5 years at wave 1, with data collection every 2 years. Parent-reported timing of child chronic illness at school entry was categorized into 4 chronic illness groups based on changes between waves 1 and 2: none, resolving, incident and persistent. Child outcomes included: parent-reported quality of life, parent- and teacher-reported behavior, teacher-reported child learning, teacher-reported child–teacher relationship, directly assessed nonverbal and verbal cognition and parent self-reported mental health. Linear regression, adjusted for gender and socioeconomic position, was used to quantify longitudinal associations between chronic illness timing at school entry with outcomes at age 6 to 7 years, 8 to 9 years and 10 to 11 years. ResultsOf the 4983 children enrolled in the study, chronic illness data was available for 4464 children (89.6%) at both waves 1 and 2. From wave 1, 6.1% had a condition that persisted until wave 2, while 14.1% had a condition that resolved. Furthermore, 4.7% had a newly emerging condition at wave 2. Compared with the no chronic illness group, children with persistent or emerging chronic illness during school entry had the poorest outcomes (except father’s mental health) at all time points, while children with resolving conditions had smaller differences. ConclusionsChild chronic illness at school entry is associated with poorer longitudinal child and maternal outcomes. Therefore, future research should aim to determine the risk and protective factors that contribute to the poorer child and parent outcomes experienced in this growing population.

The Perspective of Siblings of Children With Chronic Illness: A Literature Review

This review gives an overview about the existing research concerning siblings' perspective within the familial experiences of childhood chronic illness. Besides attaining a conception of their world, it was intended to identify the unacknowledged issues concerning siblings' experience. Four databases were systematically searched. The analysis was concentrated on nine literature reviews. As a result, we identified a map of dimensions of experiences-well-elaborated as well as fragmentary. Many of the studies were conducted by a proxy and not from the sole siblings' perspective. Further research should concentrate on the sole siblings' perspective, in order to make siblings' voices audible.

Physical Examination in Child Sexual Abuse

Child sexual abuse is more common than childhood cancer, juvenile diabetes, and congenital heart disease combined…” (1). The combined data of 39 prevalence studies from 28 countries covering the years 1994–2007 reveal that 10–20% of girls and 5–10% of boys are victims of child sexual abuse. These figures accord with those of earlier studies (2, e1). In a meta-analysis of 323 studies from around the world, involving a total of 9.9 million affected children, the worldwide prevalence was found to be 12.7% (18.0% for girls, 7.6% for boys) (3). In the USA, where the reporting of child abuse is mandatory, 60 000 to 80 000 confirmed cases are reported annually, with a downward trend (4). The available data from Germany are sparse, and it is assumed that many cases go unreported; reliable data on the frequency of subtypes of sexual abuse are sparse as well. The literature documents a lifelong association between sexual victimization in childhood and adolescence and chronic mental and physical illness in adulthood (e2). Only in recent years has the medical profession’s involvement in this area resulted in evidence-based research and consensus-based determination of best clinical practice (5, e3– e6), with increasing acceptance in Germany as in other countries (6, 7, e7, e8). This is also true of the psychiatric and psychosomatic aspects of child sexual abuse (e9). Prevalence A meta-analysis of 323 studies from around the world, involving a total of 9.9 million affected children, revealed an overall prevalence of 12.7% (18.0% for girls, 7.6% for boys). Hardly any data from Germany are available.

Improving the mental health of adolescents with epilepsy through a group cognitive behavioral therapy program

The threat of unpredictable seizures makes epilepsy unique among childhood chronic illnesses. One consequence is that people who have childhood-onset epilepsy often have poor social adjustment and competence in adulthood. Better emotional and social functioning could improve long-term outcomes. Thirty-four adolescents with epilepsy participated in a group cognitive behavioral therapy program designed to enhance their level of psychosocial functioning. Baseline Strength and Difficulty Questionnaire scores suggested that many participants had difficulties with emotions, concentration, and social functioning, with parent-reported Impact scores significantly worse than adolescent-reported scores (p=0.005). Four months after the intervention, adolescent-reported Prosocial Behavior scores significantly improved (p=0.03). Parent-reported scores improved significantly at follow-up, compared with baseline, in Peer Problems (p=0.04), Impact (p=0.001), and Prosocial Behavior (p=0.004) scores. Adolescents with lower socioeconomic status reported the greatest improvements (p=0.01). A brief CBT intervention was effective and resulted in improved mental health indices and social functioning for adolescents with epilepsy.

An evaluation of serum paraoxonase together with arylesterase activities and oxidative stress in children with intractable epilepsy: A cross-sectional study

Epilepsy is the most common chronic neurological illness in childhood and adolescence. The aim of this study was to investigate paraoxonase and arylesterase activities along with oxidative status parameters in children with intractable epilepsy. The study comprised 42 subjects with intractable epilepsy and a control group of 35 healthy subjects. Serum paraoxonase and arylesterase activities, and lipid hydroperoxide levels were determined. All paraoxonase and arylesterase activities were significantly lower in the intractable epilepsy subjects than in the controls (P<0.001), whereas lipid hydroperoxide levels were significantly higher (P<0.05). In conclusion, paraoxonase and arylesterase activities were decreased and the lipid hydroperoxide level was increased in patients with intractable epilepsy. These results showed that intractable epilepsy subjects may be more prone to the development of atherosclerosis.

The use of a collaborative structured methodology for the development of a multifaceted intervention programme for the management of asthma (the MIA project), tailored to the needs of children and families of South Asian origin: a community-based, participatory study

BackgroundAsthma is one of the most common chronic childhood illnesses in the UK. South Asian children are more likely to suffer from their asthma and be admitted to hospital. While this inequality needs to be addressed, standard behaviour-change interventions are known to be less successful in minority ethnic groups. Evidence suggests a need to enhance services provided to ethnic minority communities by developing culturally sensitive tailored interventions.ObjectivesThe Management and Interventions for Asthma (MIA) project aimed to test an iterative multiphase participatory approach to intervention development underpinned by the socioecological model of health, producing an intervention-planning framework and enhancing an evidence-based understanding of asthma management in South Asian and White British children.DesignInterviews and focus groups facilitated by community facilitators (CFs) were used to explore knowledge and perceptions of asthma among South Asian communities, children, families and healthcare professionals (HCPs). A smaller comparison group of White British families was recruited to identify aspects of asthma management that could be addressed either by generic interventions or by a tailored approach. Collaborative workshops were held to develop an intervention planning framework and to prioritise an aspect of asthma management that would be used as an exemplar for the development of the tailored, multifaceted asthma intervention programme.SettingThe community study was based in a largely urban environment in Leicester, UK.ParticipantsParticipants were recruited directly from the South Asian (Indian, Pakistani and Bangladeshi) and White British communities, and through the NHS. Children were aged between 4 and 12 years, with a range of asthma severity.Intervention developmentThe study had four phases. Phase 1 consisted of an evidence review of barriers and facilitators to asthma management in South Asian children. Phase 2 explored lay understandings of childhood asthma and its management among South Asian community members (n = 63). Phase 3 explored perceptions and experiences of asthma management among South Asian (n = 82) and White British families (n = 31) and HCP perspectives (n = 37). Using a modified intervention mapping approach incorporating psychological theory, phase 4 developed an intervention planning framework addressing the whole asthma pathway leading to the development of an exemplar multifaceted, integrated intervention programme called ‘ACT [Awareness, Context (cultural and organisational) and Training] on Asthma’.ResultsData on the social patterning of perceptions of asthma and a lack of alignment between the organisation of health services, and the priorities and competencies of British South Asian communities and families were produced. Eleven key problem areas along the asthma pathway were identified. A four-arm multifaceted tailored programme, ‘ACT on Asthma’, was developed, focusing on the theme ‘getting a diagnosis’. This theme was chosen following prioritisation by families during the collaborative workshops, demonstrating the participatory, iterative, phased approach used for the intervention design.ConclusionsThe MIA study demonstrated barriers to optimal asthma management in children at the family, provider and healthcare system levels and across the whole asthma pathway. Interventions need to address each of these levels to be effective. Minority ethnic communities can be successfully engaged in collaborative intervention development with a community-focused and culturally sensitive methodology.Future workFurther research is required to (1) assess the feasibility and effectiveness of the proposed ‘ACT on Asthma’ programme, (2) develop methods to increase active participation of children in research and service development, (3) develop and test strategies to enhance public understanding of asthma in South Asian communities and (4) identify effective means of engaging the wider family in optimising asthma management.FundingThe National Institute for Health Research Health Services and Delivery Research programme.

The impact of chronic physical illness, maternal depressive symptoms, family functioning, and self-esteem on symptoms of anxiety and depression in children.

The present study extends earlier research identifying an increased risk of anxiety among children with chronic physical illness (CwCPI) by examining a more complete model that explains how physical illness leads to increased symptoms of anxiety and depression. We tested a stress-generation model linking chronic physical illness to symptoms of anxiety and depression in a population-based sample of children aged 10 to 15 years. We hypothesized that having a chronic physical illness would be associated with more symptoms of anxiety and depression, increased levels of maternal depressive symptoms, more family dysfunction, and lower self-esteem; and, that maternal depressive symptoms, family dysfunction, and child self-esteem would mediate the influence of chronic physical illness on symptoms of anxiety and depression. Data came from the National Longitudinal Survey of Children and Youth (N = 10,646). Mediating processes were analyzed using latent growth curve modeling. Childhood chronic physical illness was associated with increases in symptoms of anxiety and depression, β = 0.20, p < 0.001. Mediating effects were also observed such that chronic physical illness resulted in increases in symptoms of maternal depression and family dysfunction, leading to declines in child self-esteem, and in turn, increases in symptoms of anxiety and depression. CwCPI are at-risk for symptoms of anxiety and depression. Some of this elevated risk appears to work through family processes and child self-esteem. This study supports the use of family-centered care approaches among CwCPI to minimize burden on families and promote healthy psychological development for children.

Evaluation of a Family Systems Intervention for Managing Pediatric Chronic Illness: Mastering Each New Direction (MEND)

Family systems play a crucial, albeit complex, role in pediatric chronic illness. Unfortunately, very few psychosocial interventions are available to help these stressed families navigate the developmental steps of chronic illness. A new intervention (MEND) addresses the needs of these families and applies to a broad range of chronic illnesses. This article presents this family systems intervention as well as includes preliminary program evaluation data on 22 families that graduated from the program. Results show consistently strong effects across an array of psychosocial measures. Conclusions from this preliminary study suggest that families entering MEND present with high levels of stress due to the child's chronic illness, but after MEND, the level of stress and other functioning measures are comparable to those seen in healthy families, suggesting that the program offers a significant benefit to families with pediatric chronic illness.

The Child Illness and Resilience Program (CHiRP): a study protocol of a stepped care intervention to improve the resilience and wellbeing of families living with childhood chronic illness.

BackgroundFamilies of children living with chronic illness are more vulnerable to mental health problems, however this can be ameliorated by a family’s resilience. The Child Illness and Resilience Program (CHiRP) will develop and evaluate a parent-focussed family intervention designed to increase the resilience and wellbeing of families living with childhood chronic illness.Methods/DesignThe study will be conducted in an Australian regional paediatric hospital and will use a stepped care intervention that increases in intensity according to parental distress. All parents of children discharged from the hospital will receive a family resilience and wellbeing factsheet (Step 1). Parents of children attending selected outpatient clinics will receive a family resilience and wellbeing activity booklet (Step 2). Parents who receive the booklet and report psychological distress at three-month follow-up will be randomised to participate in a family resilience information support group or waitlist control (Step 3). The Step 3 control group will provide data to compare the relative effectiveness of the booklet intervention alone versus the booklet combined with the group intervention for distressed parents. These participants will then receive the information support group intervention. All parents in Step 2 and 3 will complete baseline, post-intervention and six month follow up assessments. The primary outcomes of the study will be changes in scores between baseline and follow-up assessments on measures of constructs of family resilience, including parental wellbeing, family functioning, family beliefs and perceived social support. Qualitative feedback regarding the utility and acceptability of the different intervention components will also be collected.DiscussionIt is hypothesised that participation in the CHiRP intervention will be associated with positive changes in the key outcome measures. If effective, CHiRP will provide an opportunity for the health sector to deliver a standardised stepped care mental health promotion intervention to families living with childhood chronic illness.Trial registrationAustralian clinical Trials Registry ACTRN 12613000844741Universal Trial Number (UTN): 1111-1142-8829

Parenting interventions for childhood chronic illness

Every day, thousands of children suffer the effects of chronic health conditions and families struggle with illness management and children's behavioural and emotional adjustment. Many parents experience difficulties with their caregiving role and lack confidence in their ability to manage their child's illness and ensure the child's well-being. While there is consistent evidence as to the extent and impact of childhood chronic illness, there is a paucity of evidence-based parenting approaches to help children with chronic health conditions and their families. This paper provides a narrative review of the current literature to examine relationships between chronic childhood illness, emotional and behavioural disorders and parenting. Key guidelines and recommendations for the development of evidence-based parenting programs for parents of children affected by chronic health conditions are provided.

Beta-2-Adrenergic Receptor Methylation Influences Asthma Phenotype in The School Inner City Asthma Study.

Asthma is the most common chronic illness of childhood and inner city residents suffer a disproportionately high rate of asthma diagnosis and asthma morbidity. The School Inner City Asthma Study investigates the school classroom based environmental exposures that may lead to asthma morbidity in inner city school children with asthma. Within this cohort, we investigated the role of methylation at the promoter region of the beta-2-adrenergic receptor in relation to asthma morbidity. We found that high levels of methylation in the region studied was significantly associated with decreased report of dyspnea and trended towards significance for lower levels of asthma symptoms and airway obstruction. This Research Highlight discusses the findings of the recent study and the investigators' active research endeavors.

Pilot undergraduate course teaches students about chronic illness in children: an educational intervention study.

Recent data question whether medical education adequately prepares physicians to care for the growing number of children with chronic medical conditions. We describe a 10-week course designed to provide undergraduate students with the knowledge and skills required to understand and care for children with chronic or catastrophic illnesses. The course presented the illness experience from the child's perspective and thus presented information in a manner that was efficient, conducive, and memorable. The curriculum was designed like a graduate-level seminar that included workshops, lectures, readings, writing, and lively discussions. This is an educational intervention study that used survey data to assess changes in attitudes among and between participants completing this course versus students not exposed to this course. We used Somers' D test and Fisher's z-transformation to perform both pre- and post-nonparametric comparisons. Course participants were more likely to change their attitudes and agree that chronically ill children "feel comfortable talking with their peers about their condition" (P=0.003) and less likely to agree that these children "want to be treated differently," "want more sympathy," or "care less about romantic relationships" (P = 0.003, 0.002 and 0.02, respectively). Controls were more likely to continue to agree that chronically ill children "want to be treated differently" (P = 0.009) and "care less about romantic relationships" (P = 0.02), and less likely to agree that these children "talk openly" or "feel comfortable talking with their peers about their condition" (P = 0.04). This classroom-based course serves as a feasible and cost-effective model for universities and medical schools to aid in improving student attitudes toward treating chronically ill children. The course provides the unique opportunity to learn directly from those who care for and those who have lived with chronic illness.

PReS-FINAL-2105: Can routine clinical and laboratory data predict JIA diagnosis and disease course in acute arthritis?

The assessment of a child with acute join pain and swelling needs to differentiate between various conditions. JIA is the most common form of childhood arthritis and one of the most common chronic childhood illnesses. JIA subtypes demonstrate unique clinical presentations and clinical courses. The pain and functional disability associated with JIA cause significant burden for patients and their families, affecting on health-related quality of life and well-being. Therefore, JIA should be recognised and treatment started as soon as possible. Early diagnosis is a determinant step in the management of these patients to prevent the effects of an illness.

Chronic illness and anxiety in childhood: the mediating effects of family environment and self-concept

Chronic illness and anxiety in childhood: the mediating effects of family environment and self-concept

Lack of association of CTLA-4 +49 A/G polymorphism with predisposition to type 1 diabetes in a cohort of Egyptian families

BackgroundType 1 diabetes is one of the most common chronic childhood illnesses. Interplay between genetic susceptibility and environmental factors is thought to provide the fundamental element for the disease. Apart from the Major Histocompatibility locus which is the main contributor to risk susceptibility, more than 40 loci are recognized. One among these is the CTLA-4, however data from the literature are controversial. The aim of our study was to investigate the role of CTLA4 49 A/G as a risk susceptibility factor for the development of type 1 diabetes in a cohort of Egyptian families. Subjects and methodsThis is a case control study including 88 Egyptian families with one or more index cases (<18years). The control group comprised 369 healthy unrelated subjects with no family history of diabetes or autoimmune disease.Using PCR-RFLP methodology, CTLA4 49 A/G was analyzed in 738 samples representing 88 families (88 patients, 125 siblings and 156 parents) and 369 control. ResultsThe age of onset was 6days-12.5years with a mean of 5.3±3.6 and a median of 5years. The mode of presentation was classic symptoms in 51 and diabetic ketoacidosis in 37 cases. Twenty-two cases had a history of viral infection or exanthematous disease and four had associated autoimmune diseases. No significant differences were encountered between the different groups with regard to CTLA4 +49 A/G genotype or allele frequencies. Neither was there a relation between the various genotypes and age of onset or the mode of presentation. ConclusionsCTLA4 49 A/G polymorphism was not recognized as a risk susceptibility factor in our cohort. This may be attributed to the low co-incidence of autoimmune diseases. Up to our best knowledge, this is the first study involving families. We recommend that all studies performed on risk susceptibility to type 1 diabetes should include proper investigation for other autoimmune diseases to exclude their confounding effect on data analysis.