Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations

Deficiency of coagulation factor XIII (FXIII) belongs to the rare bleeding disorders and its incidence is higher in populations with consanguineous marriages. The aims of this study were to characterize patients and relatives from seven families with suspected FXIII deficiency from Pakistan and to identify the underlying mutations. As a first indicator of FXIII deficiency, a 5M urea clot solubility test was used. Plasma FXIII A- and B-subunit antigen levels were determined by ELISA. FXIII activity was measured with an incorporation assay. Sequencing of all exons and intron/exon boundaries of F13A was performed, and a novel splice site defect was confirmed by RT-PCR analysis. Genetic analysis revealed six different mutations in the F13A gene. Two splice site mutations were detected, a novel c.1460+1G>A mutation in the first nucleotide of intron 11 and a previously reported c.2045G>A mutation in the last nucleotide of exon 14. Neither of them was expressed at protein level. A novel nonsense mutation in exon 4, c.567T>A, p.Cys188X, was identified, leading in homozygous form to severe FXIII deficiency. Two novel missense mutations were found in exons 8 and 9, c.1040C>A, p.Ala346Asp and c.1126T>C, p.Trp375Arg, and a previously reported missense mutation in exon 10, c.1241C>T, p.Ser413Leu. All patients homozygous for these missense mutations presented with severe FXIII deficiency. We have analysed a cohort of 27 individuals and reported four novel mutations leading to congenital FXIII deficiency.

An Examination of the Contextual Environment of Families with Sexually Abused Adolescents

This study examined the impact of the contextual environment of the family on post abuse adjustment of sexually abused adolescents. Bronfenbrenner’s ecological theory was used to investigate how the external influences of the family impact the capacity of families to foster the recovery of sexually abused adolescents. The results from this secondary analysis of data from the National Survey of Child and Adolescent Well-Being Wave I (NSCAW, Dowd et al., 2002) support contextually sensitive treatment planning for sexually abused adolescents and their families.

Strengthening Families: Parents' Voices on Discipline and Child Rearing

This qualitative study conducted semi-structured, multi-session focus groups and interviews with twenty-seven participants to explore in-depth, participant constructs of child discipline and punishment methods and reasons for the continuing support for corporal punishment of U.S. children. The research assumed that parents want to parent well and utilized the strengths perspective as the instrument to listen to participants' voices. Narratives revealed that participants were thoughtful about discipline and parenting strategies and viewed their parent role as a serious commitment. Non-violent discipline strategies, particularly communication, were often used. However, parents generally framed use of physical punishment as “when children need spanking” versus articulating the view that corporal punishment is a choice. Parents were unfamiliar with risks associated with physical punishment and only three parents, as a result of their foster parent training, had ever heard, “Do not spank.” Participants enumerated services and recommendations that would support and inform their own parenting, as well as, benefit children and the eighty percent of women and men in the United States who become mothers and fathers. Recommendations included: creation of a national campaign to build on parent strengths and the intentionality of effective parenting; child development education and increased public awareness of positive discipline methods; parenting supports, including respite and venues for dialogue and discourse about parenting. Recommendations are intended to inform child welfare practice and policy, particularly child abuse prevention. Creating, funding, and implementing a national campaign as described would challenge the dominant child welfare paradigm from one currently perceived as punitive and focused on parents' deficits to a strengths-based paradigm that provides supports and assistance to parents and children.

Connecting the Dots: Families and Children with Special Needs in a Rural Community

Due to the rising number of children with disabilities, the needs of these families must be addressed. This article describes the development and implementation of a regional forum in a rural community to address education and training needs of families and professionals. The Special Needs Summit provided workshops, information, and activities for parents and professionals. Participants were invited to participate in a study through a survey soliciting feedback regarding the importance and effectiveness of the training and information received through the Summit, gaps in resources, and future educational and training needs. Overall, participants gave satisfactory ratings regarding the training and education provided during the forum, and gave direction for future programming.

Commentary on "Resilient Families Help Make Resilient Children"

This commentary outlines the strengths of the resilience-based family therapy approach. It describes the need for additional research in this area to advance the field and particular challenges that the field faces.

Commentary on "An Examination of the Contextual Environment of Families with Sexually Abused Adolescents"

The focus of this article is on the role of family in adolescent outcomes when sexual abuse has occurred. The authors identify environmental factors for promoting well-being among adolescents. Two hypotheses aim to examine the systemic influence on adolescents who have been sexually abused, with regard to: 1) mesosystemic barriers (i.e., low levels of school engagement and peer relationships), and 2) exosystemic risk factors (i.e., low levels of social support, socioeconomic status, and community safety, as well as large community size).

Commentary on “Connecting the Dots: Families and Children with Special Needs in a Rural Community”

Starks et al. discuss an evaluation of educational initiatives to improve rural systems of care for children with special needs. Akin to the medical home neighborhood concept, building a holistic medical "village" entails improving collaboration, sharing accountability, and helping families to navigate the health care system. The article suggests that policymakers should include patient experiences of care in program evaluation, and they should build a community infrastructure for shared information and efficient communication.

Commentary on "Child Welfare Waivers: The Stakes for Families"

The purpose of this piece is to provide commentary of an article, Child Welfare Waivers: The Stakes for Your State, that discusses the recent reauthorization of the Title IV-E Child Welfare Waivers. The article provides an overview of funds available to the states for child welfare programs and their intended purpose and restrictions placed on use. As structured, the present system rewards states monetarily for maintaining foster care. Research from waiver programs shows promising results for improved outcomes at the same or lower financial cost by utilizing safe, proven alternatives to the current foster care system. Waiver funds also protect the financial commitment to child welfare because state legislative budget slashing in this area will result in the loss of Federal funding. The independent analysis required with the grant of a waiver must be maintained to provide ongoing analysis and oversight of the increase spending flexibility. Stakeholders must be aware of the program and its results and use these funds as an opportunity to assess new concepts and apply programs best suited to the needs of children in their state. Allowing those “on the ground” to determine appropriate programming and careful result assessment may be the best means for protecting children, preserving families and doing both in a manner that makes the most efficient use of available resources.

Review: Families & Change: Coping With Stressful Events and Transitions

A review of Families & Change: Coping With Stressful Events and Transitions-4th edition by Sharon J. Price, Christine A. Price and Patrick C. McKenry.

Resilient Families Help Make Resilient Children

Many children are resilient despite dysfunctional families and communities. Resilience theory and research describe families’ positive impact on children’s resilience, yet it can often be challenging to identify these factors in children’s multi-problem families. Strategies for enhancing family resilience can strengthen the family treatment approaches that are commonly used to help children. This paper explains how family resilience influences children's resilience and applies this knowledge to a case example of a struggling family. It proposes methods for identifying and enhancing family protective factors that support children’s resilience.