Median Child Age Research Articles

2240 Shared decision making in child health: A qualitative study of parents of children with medical complexity

OBJECTIVES/SPECIFIC AIMS: Children with medical complexity (CMC) comprise less than 5% of the pediatric population and over 40% of pediatric spending, yet receive poorer quality health care compared with other children. The American Academy of Pediatrics recently identified shared decision making (SDM) as a key quality indicator for CMC, but there is no consensus model for SDM in CMC. Objective: To create a model of SDM from perspectives of parents of CMC. METHODS/STUDY POPULATION: Interviews with parents of CMC explored SDM preferences and experiences. Eligible parents were ≥18 years old, English-speaking or Spanish-speaking, with a CMC <12 years old. Interviews were recorded, transcribed, and analyzed by 3 independent coders for shared themes using grounded theory. RESULTS/ANTICIPATED RESULTS: Interviews were with 31 parents [26 English speakers, median parent age 33 years (SD 11), median child age 3 years (SD 3.6)] in inpatient and outpatient settings. We identified specific, unique components of SDM that affect decision quality, the alignment of a decision with the parent’s preferences and values. Themes included: concerns about uncertainty of the child’s life trajectory, conflict during parent-provider communication, health system factors such as provider schedule; parent agency, and the influence of the source of information. DISCUSSION/SIGNIFICANCE OF IMPACT: Our findings provide specific components of SDM unique to CMC that can inform future research and interventions to support SDM for parents and providers of CMC.

Intergenerational Transmission of Work Values: A Meta-Analytic Review.

Work values act as guiding principles for individuals' work-related behavior. Economic self-sufficiency is an important predictor for psychological well-being in adulthood. Longitudinal research has demonstrated work values to be an important predictor of economic behavior, and consequently of self-sufficiency. Socialization theories designate parents an important role in the socialization of their children to cultural values. Yet, extant literature is limited in demonstrating the role families play on how youth develop agentic pathways and seek self-sufficiency in transition to adulthood. This study presents a meta-analytic review investigating the intergenerational transmission of work values, which is frequently assessed in terms of parent-child value similarities. Thirty studies from 11 countries (N = 19,987; Median child age = 18.15) were included in the analyses. The results revealed a significant effect of parents on their children's work values. Both mothers' and fathers' work values, and their parenting behavior were significantly associated with their children's work values. Yet, similarity of father-child work values decreased as child age increased. Our findings suggest a moderate effect, suggesting the influence of general socio-cultural context, such as generational differences and peer influences, in addition to those of parents on youth's value acquisition. Our systematic review also revealed that, despite its theoretical and practical importance, social science literature is scarce in comprehensive and comparative empirical studies that investigate parent-child work value similarity. We discuss the implications of our findings for labor market and policy makers.

Field evaluation of HIV point-of-care testing for early infant diagnosis in Cape Town, South Africa.

BackgroundEarly infant HIV diagnosis (EID) coverage and uptake remains challenging. Point-of-care (POC) testing may improve access and turn-around-times, but, while several POC technologies are in development there are few data on their implementation in the field.MethodsWe conducted an implementation study of the Alere q Detect POC system for EID at two public sector health facilities in Cape Town. HIV-exposed neonates undergoing routine EID testing at a large maternity hospital and a primary care clinic received both laboratory-based HIV PCR testing per local protocols and a POC test. We analysed the performance of POC versus laboratory testing, and conducted semi-structured interviews with providers to assess acceptability and implementation issues.ResultsOverall 478 specimens were taken: 311 tests were performed at the obstetric hospital (median child age, 1 days) and 167 six-week tests in primary care (median child age, 42 days). 9.0% of all tests resulted in an error with no differences by site; most errors resolved with retesting. POC was more sensitive (100%; lower 95% CI, 39.8%) and specific (100%, lower 95% CI, 98%) among older children tested in primary care compared with birth testing in hospital (90.0%, 95% CI, 55.5–99.8% and 100.0%, lower 95% CI, 98.4%, respectively). Negative predictive value was high (>99%) at both sites. In interviews, providers felt the device was simple to use and facilitated decision-making in the management of infants. However, many wanted clarity on the cause of errors on the POC device to help guide repeat testing.ConclusionsPOC EID testing performs well in field implementation in health care facilities and appears highly acceptable to health care providers.

Blood pressure among Australian Aboriginal children.

To determine the prevalence of elevated blood pressure (BP) and potential predictors of SBP and DBP in urban Australian aboriginal children. The Study of Environment on Aboriginal Resilience and Child Health is a prospective cohort study of urban Aboriginal children attending four Aboriginal Community Controlled Health Services in New South Wales, Australia. Clinical measures included a manual BP measured by research officers using standardized protocols. BP z-scores adjusted for sex, age, and height were used in regression analyses. Hypertension was defined as a BP at least 95th centile and prehypertension at least 90th centile. Factors considered in relation to BP included child (BMI, dietary history, socioeconomic status, sedentary behavior) and caregiver measures (BP and caregiver stress). Overall, data from 657 children, aged 2-17 years and their caregivers, collected from 2008 to 2011, were included. Median child age was 6.3 years (interquartile range: 4.0, 9.9); 15.6% (95% confidence interval 12.2-19.1%) had hypertension and 12.3% (9.2-5.5%) prehypertension. Following adjustment, the strongest predictor of BP was caregiver BP (0.15 increase in systolic z-score per 10 mmHg of caregiver BP, 95% confidence interval 0.07-0.24, P < 0.001); child BMI z-score was significantly related to diastolic [0.08 increase (0.01-0.15) per mg/m BMI increase, P = 0.03] but not SBP [0.08 increase (-0.01 to 0.16) per mg/m BMI increase, P = 0.08]. None of the other factors examined were significantly related to BP. BP is frequently elevated in urban aboriginal children. The strongest predictors of BP were caregiver BP and child BMI. Based on these data, and given the strong community linkages of aboriginal people, we recommend family-based interventions to reduce BP in this high-risk group.

Parenting Self-Efficacy, Parent Depression, and Healthy Childhood Behaviors in a Low-Income Minority Population: A Cross-Sectional Analysis

Objectives Childhood obesity prevention and treatment depends, in part, on parents acting as agents of change for their children. Our objective was to measure the associations between parenting self-efficacy, parent depressive symptoms, and preschool child behaviors that support healthy growth. Methods We performed a cross-sectional analysis of baseline data from a randomized controlled trial. Parenting self-efficacy was measured using a 5-item version of the Parenting Sense of Competence (PSOC-5) scale (α= 0.8). Parent depressive symptoms were measured using the Center for Epidemiological Studies-Depression (CESD) scale. Child outcomes included diet (24h diet recall), physical activity (accelerometry), sleep (parent-report), and media use during meals (parent-report). We performed separate multiple linear regressions for each outcome controlling for other covariates. Results The sample consisted of 601 parent-child pairs. Median child age was 4.3 (IQR 3.6-5.1) years; median child body mass index (BMI) percentile was 79.1% (IQR 66.8-88.5%); 90% of children were Hispanic/Latino, and 6% of children were non-Hispanic Black. Median parent age was 31.5 (IQR 27.6-36.0) years; 22% of parents met criteria for depression. Parenting self-efficacy (median PSOC-5 25; IQR 24-28) was negatively correlated with depressive symptoms (ρ = -0.16; p < 0.001). In adjusted models, higher parenting self-efficacy was associated with duration of child's sleep and fewer meals eaten in front of a TV (p < 0.001). There was a significant interaction of parenting self-efficacy and parental depressive symptoms on child sleep duration (p < 0.001). Parenting self-efficacy and depressive symptoms were not significantly associated with child physical activity or child diet. Conclusions In this minority population, higher parenting self-efficacy was associated with longer child sleep and fewer meals in front the TV, but parent depressive symptoms mitigated that protective effect for child sleep duration.

Compliance with ESPGHAN position on complementary feeding in a multicultural European community. Does ethnicity matter?

IntroductionIn 2008, ESPGHAN published a position paper on complementary feeding providing recommendations to health care professionals. Cultural and socio-economic factors might affect the compliance to these orientations. AimTo estimate the prevalence of inadequacies during complementary feeding (ESPGHAN, 2008) and its association with different ethnic backgrounds. MethodsCross-sectional survey of a convenience sample of caretakers of children up to 24 months of age in a single community health centre in Greater Lisbon, through a volunteer, self-applied questionnaire. ResultsFrom a sample of children with wide cultural diversity, 161 valid questionnaires were obtained (median child's age 9 months, median mother's age 32 years). The prevalence rate of at least one complementary feeding inadequacy was 46% (95%CI: 38.45–53.66). The commonest inadequacies were: avoiding lumpy solid foods after 10 months of age (66.7%), avoidance or delayed introduction of foods beyond 12 months (35.4%), introduction of gluten beyond 7 months (15.9%) or salt before 12 months (6.7%). For each increase of 1 month in the age of the child, the odds of inadequacies raised 36.7% (OR=1.37; 95%CI: 1.20–1.56; p<0.001). The odds for inadequacies in children of African or Brazilian offspring was three times higher that of Portuguese ancestry (OR=3.31; 95%CI: 0.87–12.61; p=0.079). The influence of grandparents was related to an increase in the odds of inadequacies (OR=3.69; 95%CI: 0.96–14.18; p=0.058). ConclusionInadequacies during complementary feeding are frequent and may be influenced by the cultural background.

Determinants of quality of life during induction therapy in pediatric acute lymphoblastic leukemia.

Improvement in survival of pediatric acute lymphoblastic leukemia (ALL) has increased the attention to quality of life (QoL) . QoL is impaired during maintenance treatment, but little is known about QoL during induction therapy. Identification of patients with poor QoL during induction will provide opportunities for early interventions, and may subsequently improve future QoL. This national multi-center study aimed to assess QoL and its determinants during ALL induction treatment. Proxy reports of the Child Health Questionnaire (CHQ) and the PedsQL cancer version were collected. Child, treatment, and parental characteristics were analyzed as potential determinants in a multiple regression model. One hundred thirty parents of children participated (response rate 82 %), median child age was 5.7 years and 48 % were female. QoL, as measured with the CHQ, was significantly lower than the norm, the effect sizes were large, and the differences were clinically relevant. Physical QoL was more often affected than psychosocial QoL. Regression models could be constructed for 4/ 10 CHQ scales and 6/ 8 PedsQL cancer scales, accounting for 7 to 36 % of the variance in scores. Impaired QoL was most often associated with older children, girls, and time since diagnosis. Also, father respondents seem to have a lower QoL perception compared to mother respondents although this needs to be confirmed in future research. Specific counseling for subsets of patients with a higher risk of low QoL during the early phases of therapy is warranted.

Formal and informal home learning activities in relation to children’s early numeracy and literacy skills: The development of a home numeracy model

The purpose of this study was to propose and test a model of children’s home numeracy experience based on Sénéchal and LeFevre’s home literacy model (Child Development, 73 (2002) 445–460). Parents of 183 children starting kindergarten in the fall (median child age=58months) completed an early home learning experiences questionnaire. Most of the children whose parents completed the questionnaire were recruited for numeracy and literacy testing 1year later (along with 32 children from the inner city). Confirmatory factor analyses were used to reduce survey items, and hierarchical regression analyses were used to predict the relation among parents’ attitudes, academic expectations for their children, reports of formal and informal numeracy, and literacy home practices on children’s test scores. Parental reports of formal home numeracy practices (e.g., practicing simple sums) predicted children’s symbolic number system knowledge, whereas reports of informal exposure to games with numerical content (measured indirectly through parents’ knowledge of children’s games) predicted children’s non-symbolic arithmetic, as did numeracy attitudes (e.g., parents’ enjoyment of numeracy). The home literacy results replicated past findings; parental reports of formal literacy practices (e.g., helping their children to read words) predicted children’s word reading, whereas reports of informal experiences (i.e., frequency of shared reading measured indirectly through parents’ storybook knowledge) predicted children’s vocabulary. These findings support a multifaceted model of children’s early numeracy environment, with different types of early home experiences (formal and informal) predicting different numeracy outcomes.

Satiety responsiveness in toddlerhood predicts energy intake and weight status at four years of age

The aim of this study was to examine whether maternal-report of child eating behaviour at two years predicted self-regulation of energy intake and weight status at four years. Using an ‘eating in the absence of hunger’ paradigm, children’s energy intake (kJ) from a semi-standardized lunch meal and a standardized selection of snacks were measured. Participants were 37 mother–child dyads (16 boys, Median child age=4.4years, Inter-quartile range=3.7–4.5years) recruited from an existing longitudinal study (NOURISH randomised controlled trial). All participants were tested in their own home. Details of maternal characteristics, child eating behaviours (at age two years) reported by mothers on a validated questionnaire, and measured child height and weight (at age 3.5–4years) were sourced from existing NOURISH trial data. Correlation and partial correlation analyses were used to examine longitudinal relationships. Satiety responsiveness and Slowness in eating were inversely associated with energy intake of the lunch meal (partial r=−.40, p=.023, and partial r=−.40, p=.023) and the former was also negatively associated with BMI-for-age Z score (partial r=−.42, p=.015). Food responsiveness and Enjoyment of food were not related to energy intake or BMI Z score. None of the eating behaviours were significantly associated with energy intake of the snacks (i.e., eating in the absence of hunger). The small and predominantly ‘healthy weight’ sample of children may have limited the ability to detect some hypothesized effects. Nevertheless, the study provides evidence for the predictive validity of two eating behaviours and future research with a larger and more diverse sample should be able to better evaluate the predictive validity of other children’s early eating behaviour styles.

Association between health literacy and child and adolescent obesity

ObjectiveWe tested the association between child and parental health literacy (HL) and odds of child and adolescent obesity. MethodsWe conducted an anonymous cross-sectional survey of a convenience sample of English-speaking child-parent dyads. Newest Vital Sign (NVS) measured HL. We used multivariable logistic regression to test adjusted association between child and parental NVS and obesity. Analyses were stratified for school-aged children (aged 7–11) vs. adolescents (aged 12–19). ResultsWe surveyed 239 child-parent dyads. Median child age was 11 [inter-quartile range 9–13]; 123 (51%) were male; 84% Medicaid recipients; 27% obese. For children, the odds of obesity [adjusted odds ratio (95% confidence interval)] decreased with higher parent NVS [0.75 (0.56,1.00)] and increased with parent obesity [2.53 (1.08,5.94)]. For adolescents, odds of obesity were higher for adolescents with the lowest category of NVS [5.00 (1.26, 19.8)] and older parental age [1.07 (1.01,1.14)] and lower for Medicaid recipients [0.21 (0.06,0.78)] and higher parental education [0.38 (0.22,0.63)]. ConclusionObesity in school-aged children is associated with parental factors (obesity, parental HL); obesity in adolescents is strongly associated with the adolescent's HL. Practice implicationsStrategies to prevent and treat obesity should consider limited HL of parents for child obesity and of adolescents for adolescent obesity.

Prevalence, perceptions, and correlates of pediatric HIV disclosure in an HIV treatment program in Kenya

Disclosure to HIV-infected children regarding their diagnosis is important as expanding numbers of HIV-infected children attain adolescence and may become sexually active. In order to define correlates of pediatric disclosure and facilitate development of models for disclosure, we conducted a cross-sectional survey of primary caregivers of HIV-1 infected children aged 6–16 years attending a pediatric HIV treatment program in Nairobi, Kenya. We conducted focus group discussions with a subset of caregivers to further refine perceptions of disclosure. Among 271 caregiver/child dyads in the cross-sectional survey, median child age was 9 years (interquartile range: 7–12 years). Although 79% of caregivers believed children should know their HIV status, the prevalence of disclosure to the child was only 19%. Disclosure had been done primarily by health workers (52%) and caregivers (33%). Caregivers reported that 5 of the 52 (10%) who knew their status were accidentally disclosed to. Caregivers of older children (13 vs. 8 years; p<0.001), who were HIV-infected and had disclosed their own HIV status to the child (36% vs. 4%; p=0.003), or who traveled frequently (29% vs. 16%, p=0.03) were more likely to have disclosed. Children who had been recently hospitalized (25% vs. 44%, p=0.03) were less likely to know their status, and caregivers with HIV were less likely to have disclosed (p=0.03). Reasons for disclosure included medication adherence, curiosity or illness while reasons for nondisclosure included age and fear of inadvertent disclosure. Our study found that disclosure rates in this Kenyan setting are lower than observed rates in the USA and Europe but consistent with rates from other resource-limited settings. Given these low rates of disclosure and the potential benefits of disclosure, strategies promoting health worker trainings and caregiver support systems for disclosure may benefit children with HIV.

An Emotional Bond: The Relationship between Maternal Stress and Offspring Disease

Vol. 119, No. 11 News | Science SelectionsOpen AccessAn Emotional Bond: The Relationship between Maternal Stress and Offspring Diseaseis accompanied byStress during Pregnancy and Offspring Pediatric Disease: A National Cohort Study Tanya Tillett Tanya Tillett Search for more papers by this author Published:1 November 2011https://doi.org/10.1289/ehp.119-a488aCited by:1AboutSectionsPDF ToolsDownload CitationsTrack Citations ShareShare onFacebookTwitterLinked InRedditEmail Studies have suggested a potential association between maternal stress during pregnancy and an increased risk of specific diseases in offspring, prompting calls for a closer examination of stress as an environmental health factor. A new comprehensive study based on a large population-based cohort in Denmark explores this association further by examining maternal stress during pregnancy and the development of a wide spectrum of pediatric diseases [EHP 119(11):1647–1652; Tegethoff et al.].The researchers examined prospective data for 66,203 mother–child pairs enrolled in the Danish National Birth Cohort. The mothers gave birth between 1996 and 2003, and the median child age at the end of followup was 6.2 years.The researchers assessed two types of stress during each woman’s pregnancy—“life stress” and “emotional stress”—based on information reported by mothers at about 30 weeks’ gestation. Life stress refers to the mother’s perceived life burdens, e.g., work, housing, and human relations. Emotional stress refers to the mother’s feelings, e.g., irrational fear, hopelessness, and irritation. The researchers also collected data on disease diagnoses reported to the Danish National Hospital Register for the study children.On average, mothers reported both life and emotional stress as being stronger before birth than after. The researchers observed associations between maternal life stress during pregnancy and a variety of childhood ailments during followup, including infectious and parasitic diseases, mental and behavioral disorders, and diseases of the eye, ear, skin, respiratory system, digestive system, musculoskeletal system, and genitourinary system. Maternal emotional stress during pregnancy was associated with an increased risk of infectious disease only—a finding that contradicts some previous studies. The authors write that the discrepancies may result from differences across studies in classifying emotional stress or disease outcomes.A growing body of literature backs up the folk wisdom of staying calm for the sake of the baby.© Ugurhan Betin/iStockphotoLimitations to the study include a lack of data on the timing of mothers’ stress during pregnancy (each organ system has a specific critical window of intrauterine susceptibility) and the possibility of uncontrolled confounding factors such as chemical exposures. However, the findings overall corroborate and build upon those of earlier studies and underscore the need for strategies to reduce maternal stress during pregnancy. They write that future studies should look in more detail at offspring diseases related to maternal stress and should focus on determining the underlying mechanisms, which may help improve preventive approaches and interventions.FiguresReferencesRelatedDetailsCited By Zhou L, Xu J, Zhang J, Yan C, Lin Y, Jia Y and Hu W (2017) Prenatal maternal stress in relation to the effects of prenatal lead exposure on toddler cognitive development, NeuroToxicology, 10.1016/j.neuro.2017.01.008, 59, (71-78), Online publication date: 1-Mar-2017. Related articlesStress during Pregnancy and Offspring Pediatric Disease: A National Cohort StudyJul 21, 2011, 12:00:00 AMEnvironmental Health Perspectives Vol. 119, No. 11 November 2011Metrics About Article Metrics Publication History Originally published1 November 2011Published in print1 November 2011 Financial disclosuresPDF download License information EHP is an open-access journal published with support from the National Institute of Environmental Health Sciences, National Institutes of Health. All content is public domain unless otherwise noted. Note to readers with disabilities EHP strives to ensure that all journal content is accessible to all readers. However, some figures and Supplemental Material published in EHP articles may not conform to 508 standards due to the complexity of the information being presented. If you need assistance accessing journal content, please contact ehponline@niehs.nih.gov. Our staff will work with you to assess and meet your accessibility needs within 3 working days.

Paediatric health calls to Swedish telenurses: a descriptive study of content and outcome

We collected data about telephone triage calls concerning children in Sweden. A sample of 110 paediatric calls were recorded. The transcribed data were analysed regarding word count, reasons for calling, results of calls, ages and gender of children, and gender of parents. The median call length was 4.4 min and the median child's age was 3.5 years. Mothers made 73% of calls, but mothers and fathers called to the same extent about daughters and sons, and regardless of age. The most common reasons for calls were ear problems, rash/wound or fever. In nearly half the calls, the telenurses provided self-care advice. Call length, word count or caller's part of word count did not differ according to gender of parents or children. However, mothers were more likely to receive self-care advice while fathers were more often referred to other health services by the telenurses. Telenurses might need to improve their gender competence, and more male telenurses in the service would potentially be beneficial to callers.

Relationship between child health literacy and body mass index in overweight children

Objective To test the relationship between child health literacy and body mass index (BMI) Z-score in overweight children. Methods Cross-sectional survey of overweight children and parents. Parent and child health literacy was measured by the Short Test of Functional Health Literacy (STOFHLA). Linear regression tested for predictors of childhood BMI Z-score, adjusting for confounders. Results Of 171 total children, 107 (62%) participated, of whom 78 (73%) had complete data for analysis. Mean child BMI Z-score (SD) was 2.3 (0.40); median child age (interquartile range) was 11.5 (10–16); 53% were female; 80% were Medicaid recipients. Mean child STOFHLA was 22.9 (9.0); mean parental STOFHLA was 29.1 (8.6). Child STOFHLA correlated negatively with BMI Z-score ( r = −0.37, p = 0.0009) and positively with child eating self-efficacy ( r = 0.40, p < 0.0001). After adjusting for confounders, child STOFHLA was independently associated with child BMI Z-score (standardized B = −0.43, p < 0.0001). Overall adjusted r-squared for the regression model was 38%. Child STOFHLA contributed 13% to the overall model. Conclusions Child health literacy was negatively correlated with BMI Z-scores in overweight children, suggesting the need to consider health literacy in the intersection between self-efficacy and behavior change when planning interventions that aim to improve child BMI.

The Impact of Daily Cotrimoxazole Prophylaxis and Antiretroviral Therapy on Mortality and Hospital Admissions in HIV-Infected Zambian Children

Data on the population effectiveness of cotrimoxazole prophylaxis and antiretroviral therapy (ART) in human immunodeficiency virus (HIV)-infected African children are few. A total of 534 Zambian children with HIV infection were randomized to receive daily cotrimoxazole prophylaxis or placebo in the Children with HIV Antibiotic Prophylaxis trial. Following trial closure, children who received the placebo initiated cotrimoxazole prophylaxis, and all children were observed in a closed cohort. Mortality and hospital admission rates were compared, over calendar time, in 9-month periods: trial recruitment (March 2001 to April 2002, May 2002 to January 2003), trial follow-up to closure (February 2003 to October 2003), initial follow-up posttrial (November 2003 to July 2004), and early and later ART availability (August 2004 to April 2005, and May 2005 to May 2006, respectively). A total of 546 child-years of follow-up, 40 deaths, and 80 hospital admissions were observed between the time of trial closure and June 2006. A total of 117 of 283 children who were alive at trial closure received ART in the posttrial period (median child age at first use of ART, 8.8 years). Rates decreased in both groups during the trial period, suggesting a survivorship effect. Mortality and hospital admission rates before trial closure were 14 (95% confidence interval [CI], 9-21) deaths per 100 child-years and 24 (95% CI, 15-39) hospital admissions per 100 child-years, respectively, for children who were receiving cotrimoxazole, and were 23 (95% CI, 16-34) deaths per 100 child-years and 35 (95% CI, 23-53) hospital admissions per 100 child-years, respectively, for children who were receiving the placebo. After trial closure, rates remained stable in the cotrimoxazole group, but decreased to 15 (95% CI, 8-26) deaths per 100 child-years and 19 (95% CI, 10-41) hospital admissions per 100 child-years, respectively, for the group of children who received placebo and then initiated cotrimoxazole prophylaxis. In both groups combined, mortality rates decreased to 6 (95% CI, 3-11) deaths per 100 child-years and then 2 (95% CI, 0.8-6) deaths per 100 child-years during periods of ART availability; hospital admission rates decreased to 17 (95% CI, 11-27) hospital admissions per 100 child-years and 8 (95% CI, 4-15) hospital admissions per 100 child-years, respectively. The benefits of once-daily cotrimoxazole prophylaxis continued throughout the trial and after trial closure. Mortality and hospital admissions decreased (by approximately 6-fold and approximately 3-fold, respectively) following ART availability, similar to findings observed in resource-rich countries.

IS COELIAC DISEASE A DOMINANTLY INHERITED DISORDER?

Aims: Coeliac disease (CD) occurs in approx. 10-15 % of first-degree relatives. Manifestation of the disease is restricted to HLA-DQ2 or DQ8-positive individuals, but the exact mode of inheritance is unclear and certain pedigrees show that CD is not co-inherited with HLA-DQ allels. In this study, we investigated the occurrence of CD in the offsprings of the patients. Methods: Patients diagnosed with CD in childhood by Interlaken or by current ESPGHAN criteria were prospectively followed up and their children were screened using IgA and IgG endomysial (EMA) and transglutaminase antibodies. Seropositive subjects were referred for jejunal biopsy. Offsprings positive for EMA and/or with biopsy-proven CD were regarded as affected. The results were compared with the evaluation of children of CD patients diagnosed as adults. Children first evaluated below the age of six years or on a gluten-restricted diet were yearly re- screened. Results: Altogether 481 offsprings (228 males) of 270 CD parents were studied with a median number of 2 children per parent and at a median age of 7.3 years. Percentage of affected offsprings varied according to the mode the coeliac parent was initially diagnosed (table), and was significantly higher already at an earlier median age (4.0 years) for childhood-diagnosed CD parents than for adult-diagnosed CD parents at a median child age of 7.7 years. HLA-DQ typing was performed in 85 offsprings. All affected and 76% of not affected offsprings carried DQ2 or DQ8.TABLESummary: Occurrence rate of CD was 38% in the second generation which seems to be much higher than for first-degree relatives in general. Conclusions: Our data suggest that nearly half of HLA-DQ2 or DQ8-positive offsprings were affected raising the possibility that dominantly inherited gene(s) might be operative at least in certain subsets of CD patients. These data also warrant the careful screening of offsprings.