BACKGROUND: Cyclic neutropenia (CN) and severe congenital neutropenia (SCN) are disorders of neutrophil production that differ markedly in disease severity. Mutations of the ELANE gene (the symbol recently replacing ELA2) are considered largely responsible for most cases of CN and SCN, but specific mutations are typically associated with one or the other. PROCEDURE: We performed ELANE genotyping on all individuals and paternal sperm in an SCN kindred with eight SCN progeny of a sperm donor and six different mothers. RESULTS: One patient with CN had the same S97L ELANE mutation as seven patients with the SCN phenotype. The mutant allele was detected in the donor's spermatozoa, representing 18% of the ELANE gene pool, but not in DNA from his lymphocytes, neutrophils, or buccal mucosa, indicating gonadal mosaicism. CONCLUSIONS: The coexistence of CN and SCN phenotypes in this kindred with a shared paternal haplotype strongly suggests both a role for modifying genes in determination of congenital neutropenia disease phenotypes, and the classification of CN and SCN within a spectrum of phenotypes expressing varying degrees of the same disease process.

PURPOSE: To pilot test a social support intervention for fathers of children (T1DM). DESIGN AND METHODS: The pilot study was part of a larger randomized, controlled clinical trial. Father participants (28 fathers of children newly diagnosed) were recruited from two pediatric diabetes centers. For 12 months fathers (n = 19) and their spouses in the experimental arm received social support (home visits and phone calls). Control group fathers (n = 9) and their spouses received the phone number of an experienced parent (but not formally educated to provide social support) to call as needed. RESULTS: Fathers in the intervention group had significantly greater confidence but scored higher on worry at 12 months than control group fathers. Fathers in the two groups did not differ significantly in disease-related concerns or perceived disease impact on the family, nor did they differ significantly in perceived amount and helpfulness of their daily management. However, mothers overall perceived fathers as contributing more care and help than fathers perceived themselves (p > .10). Fathers in the experimental arm identified parent mentors as individuals they would seek advice regarding day-to-day management and community agencies. Over this 4.5 year study, 6 of 28 father participants and two of the three father mentors dropped out. CLINICAL IMPLICATIONS: Nurses caring for families with young children newly diagnosed with T1DM should consider fathers social support needs and encourage their participation in day-to-day management.

OBJECTIVE: These analyses were undertaken to investigate the number and types of services and assistance believed to be useful to children with a chronic health condition and their families. The perspective of mothers, fathers, and primary care physicians were sought separately and compared. METHODS: Families that include at least 1 child with a chronic health condition were selected from pediatric practices in Central Massachusetts. All 3 respondents completed a questionnaire describing their own perspective of current needs and of the severity of the child's condition. The 3 perspectives are compared statistically and areas of agreement/disagreement are described. RESULTS: Mothers, fathers, and physicians described children's and families' needs with a surprising degree of concordance. On the other hand, pediatricians identified fewer needs, despite rating the severity of children's illnesses as greater than did parents. Mothers and fathers agreed substantially about the level of severity of their child's condition and about their unmet needs. CONCLUSIONS: It is important that pediatric practice systems include effective mechanisms to assess parents' opinions regarding the unmet needs of their child/family in the face of a child with a chronic health condition. Without input from families, pediatricians are aware of only some of the needs that parents identify.