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.

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.

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.

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.

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).

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.

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).

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.

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.

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.

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.

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.

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.

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.

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.

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.