Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.

Variants in the Protein Kinase CK2 alpha subunit, encoding the CSNK2A1 gene, have previously been reported in children with an intellectual disability and dysmorphic facial features syndrome: now termed the Okur-Chung neurodevelopmental syndrome. More recently, through trio-based exome sequencing undertaken by the Deciphering Developmental Disorders Study (DDD study), a further 11 children with de novo CSNK2A1 variants have been identified. We have undertaken detailed phenotyping of these patients. Consistent with previously reported patients, patients in this series had apparent intellectual disability, swallowing difficulties, and hypotonia. While there are some shared facial characteristics, the gestalt is neither consistent nor readily recognized. Congenital heart abnormalities were identified in nearly 30% of the patients, representing a newly recognized CSNK2A1 clinical association. Based upon the clinical findings from this study and the previously reported patients, we suggest an initial approach to the management of patients with this recently described intellectual disability syndrome.

Gender differences in treatment adherence among youth with cystic fibrosis: development of a new questionnaire.

BACKGROUND: Some prior studies have reported that girls with cystic fibrosis (CF) experience higher morbidity and mortality compared to boys. In this study, the authors compared boys' and girls' perceptions of disease-related strains and resources associated with living with CF, and the relationship of these factors to CF treatment feelings and behaviors. METHODS: All 10-21 year olds with CF at the Minnesota Cystic Fibrosis Center were invited by mail to complete a new self-report survey (Living with CF Questionnaire--LCFQ). Of these 177 youth, 58% (49 boys and 54 girls) returned surveys. RESULTS: Exploratory and confirmatory factor analyses revealed nine factors in the LCFQ. Partial support was found for hypothesized gender differences in these factors. Compared to boys, girls reported significantly more illness-related strains and worries, including emotional strains, greater treatment discouragement, lower self-esteem, and lower adherence to some aspects of the CF treatment regimen (coughing, eating high-fat foods, taking meds/pills). CONCLUSIONS: Living with CF appears to have a greater emotional impact on adolescent girls compared to boys. These gender differences may contribute to the poorer pulmonary function observed among girls with cystic fibrosis during the adolescent years.

Evidence-based assessment in pediatric psychology: family measures.

OBJECTIVE: To provide a review of the evidence base of family measures relevant to pediatric psychology. METHOD: Twenty-nine family measures were selected based upon endorsement by Division 54 listserv members, expert judgment, and literature review. Spanning observational and self-report methods, the measures fell into three broad assessment categories: Family functioning, Dyadic family relationships, and Family functioning in the context of childhood chronic health conditions. Measures were categorized as: "Well-established", "Approaching well-established", or "Promising." RESULTS: Nineteen measures met "well-established" criteria and the remaining ten were "approaching well-established." "Well-established" measures were documented for each of the broad assessment categories named above. CONCLUSIONS: Many measures deemed "well-established" in the general population are proving to be reliable and useful in pediatric samples. More evidence of the validity of family measures is needed in this context. This review should prove helpful to clinicians and researchers as they strive to make evidence-based decisions regarding family measures.

Weight control practices and disordered eating behaviors among adolescent females and males with type 1 diabetes: associations with sociodemographics, weight concerns, familial factors, and metabolic outcomes.

OBJECTIVE: This study examines the prevalence of specific weight control practices/disordered eating behaviors and associations with sociodemographic characteristics, BMI and weight perceptions, family functioning, and metabolic control among adolescent females and males with type 1 diabetes. RESEARCH DESIGN AND METHODS: The study population included 70 adolescent females and 73 adolescent males with type 1 diabetes who completed the AHEAD (Assessing Health and Eating among Adolescents with Diabetes) survey. Data on BMI and glycosylated hemoglobin (HbA(1c)) were drawn from medical records. RESULTS: Unhealthy weight control practices were reported by 37.9% of the females and by 15.9% of the males. Among the females, 10.3% reported skipping insulin and 7.4% reported taking less insulin to control their weight. Only one male reported doing either of these behaviors. Weight control/disordered eating behaviors were not associated with age, parental level of education, family structure, or race/ethnicity. Higher levels of weight dissatisfaction tended to be associated with unhealthy weight control/disordered eating; associations with BMI were inconsistent. Family cohesion was negatively associated with disordered eating among females (r = -0.52; P < 0.001) and males (r = -0.41; P < 0.001), but correlations with other measures of family environment (control, independence, and responsibility for diabetes management) were not significant. Correlations between disordered eating and HbA(1c) levels were significant among females (r = 0.33; P < 0.01) and males (r = 0.26; P < 0.05). CONCLUSIONS: Special attention is needed for youth with weight concerns and those from less cohesive families to assist in the development of healthy diabetes management behaviors.

The relation between physical activity and mental health among Hispanic and non-Hispanic white adolescents.

OBJECTIVE: To assess the relation of physical activity (PA) with feelings of sadness and suicidal thoughts and behaviors among Hispanic and non-Hispanic white adolescent boys and girls. DESIGN: Cross-sectional study using a modified 2001 Youth Risk Behavior Survey. PARTICIPANTS: One thousand eight hundred seventy Hispanic and non-Hispanic white adolescents, aged 14 to 18 years, attending high school in Nueces County, Texas. MAIN OUTCOME MEASURE: Logistic regression analysis was used to assess the relation between PA, including moderate and vigorous PAs, strength and toning, total PA, physical education class, and participation in team sports, and the dependent variables feelings of sadness and considering, planning, and attempting suicide. RESULTS: More boys reported participating in PA than girls (P<.001), and more girls than boys reported feelings of sadness and considering and planning suicide (P<.001). Greater attendance in physical education class was inversely related to feelings of sadness (odds ratio [OR], 0.80 [95% confidence interval (CI), 0.68-0.94]); participation in more total PA sessions per week was associated with a lower risk of considering suicide (OR, 0.72 [95% CI, 0.65-0.79]); and higher levels of vigorous PA (OR, 0.73 [95% CI, 0.57-0.93]), total PA (OR, 0.65 [95% CI, 0.48-0.87]), and strength and toning activity (OR, 0.64 [95% CI, 0.42-0.99]) were associated with a lower risk of planning suicide. CONCLUSIONS: These findings are consistent with a beneficial effect of PA on feelings of sadness and suicidal behaviors in Hispanic and non-Hispanic white boys and girls. Physical activity may be considered as part of an intervention strategy to improve adolescent health as a whole.

Associations of smoking prevalence with individual and area level social cohesion.

STUDY OBJECTIVE: To discover if area level social cohesion, neighbourhood safety, and home safety are associated with current cigarette smoking among adults after adjustment for concentrations of poverty and low education. DESIGN: Cross sectional survey of a random sample of adults, stratified by 19 geographical areas. SETTING: SHAPE, Survey of the Health of Adults, the Population, and the Environment-conducted in 1998 by the Hennepin County Community Health Department and the Minneapolis Department of Health and Family Support in Minnesota. PARTICIPANTS: 5256 men and 4806 women, 18 years and older, randomly selected from 19 geographical areas in an urban county. MAIN RESULTS: Overall, 21.2% of survey respondents reported current cigarette smoking. Both higher area level social cohesion (OR = 0.85, 95% CI = 0.74 to 0.98) and higher individual social cohesion (OR = 0.96, 95% CI = 0.92 to 0.99) were associated with lower likelihoods of smoking. Similar models were obtained for neighbourhood safety and home safety. CONCLUSIONS: These findings contribute to the growing literature on the important role of social cohesion and other area level characteristics on smoking behaviour among adults.

Adolescent and parent assessments of diabetes mellitus management at school.

This study explored opinions, concerns, and recommendations regarding care of Type 1 diabetes in schools. Thirty adolescent females and their parents participated in semi- structured, individual interviews that were audiotaped, transcribed, coded, and qualitatively analyzed. Responses emerged in three categories: knowledge/training of school staff; foods offered/available at school; and school rules. Participants expressed concerns that school personnel, particularly classroom teachers, possess limited knowledge of diabetes; that healthy food/beverage options are limited in the cafeteria, vending machines, and classrooms; and that school rules impede self-care of diabetes. Implications for enhancing diabetes management at school are noted.

Home-based life saving skills in Matlab, Bangladesh: a process evaluation of a community-based maternal child health programme.

OBJECTIVE: to conduct and describe results from a process evaluation of home-based life saving skills (HBLSS) one year post-implementation. DESIGN: a non-experimental, descriptive design was utilised employing both qualitative and quantitative techniques for data collection including: (1) key informant interviews, (2) group discussions, (3) performance testing, and (4) review of programme data. SETTING: rural Matlab, Bangladesh in the sub-district of Chandpur. PARTICIPANTS: 41 community health research workers (CHRW), five pregnant women, 14 support persons and four programme co-ordinators. INTERVENTION: HBLSS is a family-centred approach to improving recognition of and referral for potentially life-threatening maternal and newborn complications. In June 2007, four HBLSS meetings were implemented in Matlab by 41 CHRW with all pregnant women in the study area. MEASUREMENTS: (1) knowledge retention among CHRW, (2) programme coverage, and (3) strengths and challenges in HBLSS implementation. FINDINGS: results revealed rapid integration of the programme into the Matlab community with nearly 4500 HBLSS contacts with 2409 pregnant women between 15 June 2007 and 31 March 2008. Over 51% of pregnant women attended all four HBLSS meetings. Knowledge testing of CHRW showed strong retention with an increase in mean scores between immediate post-training and one-year post-training (from 78.7% to 92.7% and from 77.8% to 97.7% for two different HBLSS modules). Strengths of the HBLSS programme include high satisfaction among pregnant women, dedication of CHRW to the community, and strong organisation and supervision by programme staff. Challenges include lack of involvement of men, loss of two master trainers, and limited access to comprehensive emergency obstetric care at some referral sites. KEY CONCLUSIONS: the HBLSS programme was successfully implemented as a result of the high level of support and supervision by the maternal, newborn and child health staff at ICDDR,B. This evaluation highlights the value of community health workers in the fight against maternal and newborn mortality. Findings emphasise the strength of the HBLSS training approach in transferring knowledge from trainer to HBLSS guide.

Associations of psychosocial factors with health outcomes among youth with cystic fibrosis.

PURPOSE: The purpose of this study was to examine the relationship of strains, resources, feelings, and behaviors about treatment adherence reported by youth with cystic fibrosis (CF) with repeated clinic measures of their pulmonary function and nutritional status. METHODS: Linear mixed models, stratified by gender, adjusting for age, were used to examine the effects of strains, resources, and adherence behaviors on repeated pulmonary function and nutritional status measures. All 10-21 years old with CF at the Minnesota Cystic Fibrosis Center were invited by mail to participate. Of these 177 youth, 51% (43 boys, 47 girls) returned surveys. Forced expiratory volume in 1 sec and predicted weight-for-height were extracted from participants' clinic records for the 18 months following receipt of the survey. RESULTS: Females showed significantly greater variability in repeated measures of pulmonary function and nutritional status compared to males. Parent-youth strains, physical strains, activity limitations, and cough suppression had significant effects on the 18-month mean of pulmonary function measures for females, but only physical strains had a significant effect for males. CONCLUSION: Compared to males, females experienced more strains and poorer treatment adherence, which may be factors associated with declines in pulmonary function observed among females with CF during the adolescent years.

The Impact of Uncertainty Associated with a Child's Chronic Health Condition on Parents' Health.

We investigated whether uncertainty about the impact of children's chronic health conditions on their daily lives leads to changes in mothers' and fathers' mental and physical health. Three waves of data were collected over three years from parents of 228 children with chronic health conditions. Parents reported their level of uncertainty about how the child's health condition affected the child's daily life, as well as measures of their own mental and physical health at each wave of data collection. Results of structural equation models indicate that, among mothers, more illness-related uncertainty was associated with a subsequent increase in psychological symptoms relative to other mothers in the study. Psychological symptoms, in turn, were associated with a subsequent increase in physical symptoms among mothers. Uncertainty did not affect fathers' health. Illness-related uncertainty may be a risk factor for psychological and physical symptoms in mothers of children with chronic health conditions. As such, interventions that address uncertainty related to the child's chronic health condition may improve psychological and physical well-being of mothers of children with chronic health conditions.

Barriers and motivators for strength training among women of color and Caucasian women.

The present study examined factors associated with adherence to a strength training (ST) intervention in a randomized controlled intervention trial testing whether twice-weekly strength training over 2 years could prevent age-associated increases in body fat in 80 overweight to mildly obese women, aged 25-44 years. Two sets of focus groups (FGs) were conducted with 25 women of color and 24 Caucasian participants, representing 60% of intervention participants. Fifty-five percent of FG participants had low adherence (defined as < or = 80% adherence to twice-weekly gym-based strength training). Demographic data indicated that marital status and childcare responsibilities affected adherence. Participants' perceptions of experiences in the ST intervention did not correspond to adherence levels or vary by race/ethnicity. Major impediments to adherence included competing obligations and related scheduling difficulties; life transitions; and declining or insufficient social motivators.

Impact of severity of a child's chronic condition on the functioning of two-parent families.

OBJECTIVE: To examine the impact of the severity of a child's chronic condition on family functioning from the perspectives of mothers and fathers and to compare their reports with the functioning of families with healthy children. METHODS: Mothers and fathers in two-parent families of 160 infants and 102 pre-adolescents with a wide range of chronic health conditions (noncategorical approach) completed standard self-report inventories. RESULTS: The families of children with chronic conditions functioned as well or better compared with normative data for families with healthy children. The only significant differences between mothers' and fathers' reports of family functioning were a greater negative impact on role performance reported by mothers of infants and pre-adolescents and a great negative impact on affective expression reported by fathers of pre-adolescents. CONCLUSIONS: Overall, very little of the variance in family functioning was explained by severity of the child's chronic condition in this sample of middle-class, two-parent families.

Understanding family resilience.

Families, as social systems, can be considered "resilient" in ways that parallel descriptions of individual resilience. In this article, the conceptualization of family-level outcomes as a prerequisite for assessing family competence, and hence their resilience, is presented relative to the unique functions that families perform for their members and for society. The risk and protective processes that give rise to resilience in families are discussed in terms of family stress and coping theory, with a particular emphasis on the family's subjective appraisal of their sources of stress and their ability to manage them. An effort is made to distinguish two perspectives on resilience: exposure to significant risk as a prerequisite for being considered resilient versus promotion of strengths for all families in which life in general is viewed as risky. Implications for practitioners and policy makers in working with families to promote their resilience are discussed.

Parental involvement and family-centered care in the diagnostic and treatment phases of childhood cancer: results from a qualitative study.

Few research studies have addressed the ways parents participate in their childs medical care, particularly in relation to the cancer experience. The purpose of this study was to explore parents descriptions of their participation in medical care for their children with cancer. For this study, seven focus groups were conducted with 45 parents of 26 children who had completed cancer treatment at least one year prior, and who were still alive. Data were coded using thematic analysis procedures. It was found that parents emphasized their role as advocates during the diagnosis and treatment phases, by informing themselves about their childrens medical conditions, making medical care decisions, limiting the actions of medical professionals, and affirming and supporting medical professionals. These results emphasize the need to employ a family-centered approach in cancer care medical settings, by fostering and supporting the active inclusion of parents in their child's treatment and management.

The impact of childhood cancer on the family: a qualitative analysis of strains, resources, and coping behaviors.

Clinical research has led to tremendous improvements in treatment efficacy for most childhood cancers; overall 5-year survival is now greater than 75%. Long-term consequences of cure (i.e. adverse medical and psychosocial effects) have only recently begun to emerge as a primary focus of clinical research, including studies of health-related quality of life among survivors. Usually lacking in such efforts, however, is consideration of the impact of the cancer experience on the family, and the influence that the family's response to cancer has on quality of life in the child. From this qualitative analysis of seven focus groups with 45 parents of children a year or more out of cancer treatment, we report those aspects of a child's cancer diagnosis, treatment, and recovery that parents perceived as particularly difficult for their family, and the resources and coping behaviors parents perceived as helpful to their family in dealing with and managing the cancer experience. Using the Family Adjustment and Adaptation Response theoretical model to organize the data, the domains of strains and resources were delineated into themes and sub-themes related to the cancer, child, family, health-care system, and community. Within a third domain, coping, sub-themes were identified within the themes of appraisal-focused, problem-focused, and emotion-focused coping behaviors. Integration of this information should serve to improve future studies of health-related quality of life among children who survive cancer.

Parenting adolescent girls with type 1 diabetes: parents' perspectives.

OBJECTIVE: To explore parents' perceptions of the impact of type 1 diabetes mellitus (DM) on the family and to better understand parent-child conflict, parental worries, and coping strategies related to the management of DM in adolescence. METHODS: Semistructured interviews were conducted with the parents of 30 adolescent girls who had DM for at least 1 year. Using standard procedures for content analysis, themes were identified from the parents' discussions. RESULTS: Although parents reported worries, conflicts, and negative impacts of the DM on their family, they also recognized positive aspects of the DM (e.g., it promotes adolescent responsibility) and had strategies to cope with its challenges (e.g., letting go of perfectionism in disease management, keeping a positive attitude). CONCLUSIONS: Findings from this study can be used by clinicians to assess parents' concerns about DM and to help them discover ways to cope with their worries and stay involved with the disease's management. Considering the parents' perspective will likely lead to parents feeling understood by the health care team and will help to reduce their worries.

Unhealthy weight management behavior among adolescent girls with type 1 diabetes mellitus: the role of familial eating patterns and weight-related concerns.

PURPOSE: To explore familial eating patterns and weight-related concerns among families of adolescent girls with type 1 diabetes mellitus (DM) and to examine associations with disordered eating behaviors among the girls. METHODS: Interviews were conducted with 30 adolescent girls (ages 13-20 years), who had DM for at least 1 year, and separately with their parents. Eighty-four percent of the girls were Caucasian, 13% were African-American, and 3% were Hispanic. The sample included 15 girls who reported (on a questionnaire) engaging in disordered eating behaviors (DE) and a matched comparison group of girls who reported no disordered eating (Non-DE). The semi-structured interview questions focused on adolescent and parent perceptions of the impact of DM on family roles, relationships, and routines, as well as who does what in managing the DM. A content analysis of the interviews identified themes regarding family meal patterns and weight-related issues. RESULTS: Although variation was found, more than one-half (57%) of the families were classified as having a high level of meal structure (e.g., frequent family meals). Families with DE girls were more likely to be classified as having a low level of meal structure (e.g., infrequent family meals) than families with Non-DE girls. Weight concerns were common; nearly half (48%) of all families were classified as having a high level of weight-related concerns (e.g., at least one member having a high desire to lose weight). The prevalence of families with a parent engaging in behaviors to lose weight and/or making negative comments about eating or weight was higher in families of DE girls than Non-DE girls. The combination of low family meal structure and high familial weight concerns was much more prevalent in families with DE girls (58%) than in families of non-DE girls (7%). CONCLUSIONS: Interactions around food and weight appear common in many families of adolescent girls with DM. Whereas frequent family meals may help to defend against disordered eating in youth with DM, family weight concerns and behaviors appear to be risk factors for disordered eating.