Dataset Information

Assisting a child with tuberous sclerosis complex (TSC): a qualitative deep analysis of parents' experience and caring needs.

ABSTRACT:

Objective

This study was aimed to explore parents' experience of assisting children affected by tuberous sclerosis complex (TSC) with subependymal giant-cell astrocytoma (SEGA) manifestation, in order to understand their caring needs and expectation of support.

Setting and procedure

The study was designed according to the qualitative method of interpretative description and implied two sequential phases of data collection. The first phase was based on in-depth interviews with 18 Italian caregivers of children living with TSC. The second phase of the research was based on an online forum with 30 caregivers of children living with TSC.

Participants

48 Italian caregivers, assisting patients with TSC with SEGA manifestation have been involved in the study.

Results

When a TSC diagnosis is made, the whole family is affected psychologically. TSC has a great impact on families' quality of life and on their ability to cope with the disease and support the child's ability to recover and reach an acceptable level of well-being. Caregivers report the experience of losing control and the feeling of loneliness and abandon from the healthcare system.

Conclusion and practice implications

Families of children affected by TSC need targeted psychosocial assistance in order to support patients and caregivers and facilitate their social integration.

SUBMITTER: Graffigna G

PROVIDER: S-EPMC3855572 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature

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Publications

Assisting a child with tuberous sclerosis complex (TSC): a qualitative deep analysis of parents' experience and caring needs.

Graffigna Guendalina G Bosio Caterina C Cecchini Isabella I

BMJ open 20131206 12

<h4>Objective</h4>This study was aimed to explore parents' experience of assisting children affected by tuberous sclerosis complex (TSC) with subependymal giant-cell astrocytoma (SEGA) manifestation, in order to understand their caring needs and expectation of support.<h4>Setting and procedure</h4>The study was designed according to the qualitative method of interpretative description and implied two sequential phases of data collection. The first phase was based on in-depth interviews with 18 I ...[more]

PMID: 24319280

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Project description:Tuberous sclerosis complex (TSC) is a model disorder for understanding brain development because the genes that cause TSC are known, many downstream molecular pathways have been identified, and the resulting perturbations of cellular events are established. TSC, therefore, provides an intellectual framework to understand the molecular and biochemical pathways that orchestrate normal brain development. The TSC1 and TSC2 genes encode Hamartin and Tuberin which form a GTPase activating protein (GAP) complex. Inactivating mutations in TSC genes (TSC1/TSC2) cause sustained Ras homologue enriched in brain (RHEB) activation of the mammalian isoform of the target of rapamycin complex 1 (mTORC1). TOR is a protein kinase that regulates cell size in many organisms throughout nature. mTORC1 inhibits catabolic processes including autophagy and activates anabolic processes including mRNA translation. mTORC1 regulation is achieved through two main upstream mechanisms. The first mechanism is regulation by growth factor signaling. The second mechanism is regulation by amino acids. Gene mutations that cause too much or too little mTORC1 activity lead to a spectrum of neuroanatomical changes ranging from altered brain size (micro and macrocephaly) to cortical malformations to Type I neoplasias. Because somatic mutations often underlie these changes, the timing, and location of mutation results in focal brain malformations. These mutations, therefore, provide gain-of-function and loss-of-function changes that are a powerful tool to assess the events that have gone awry during development and to determine their functional physiological consequences. Knowledge about the TSC-mTORC1 pathway has allowed scientists to predict which upstream and downstream mutations should cause commensurate neuroanatomical changes. Indeed, many of these predictions have now been clinically validated. A description of clinical imaging and histochemical findings is provided in relation to laboratory models of TSC that will allow the reader to appreciate how human pathology can provide an understanding of the fundamental mechanisms of development.

Dataset Information

Assisting a child with tuberous sclerosis complex (TSC): a qualitative deep analysis of parents' experience and caring needs.

Objective

Setting and procedure

Participants

Results

Conclusion and practice implications

Publications

Assisting a child with tuberous sclerosis complex (TSC): a qualitative deep analysis of parents' experience and caring needs.

Similar Datasets

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