Adrenal Insufficiency in Young Children: a Mixed Methods Study of Parents' Experiences.

Research into adrenal insufficiency (AI) and congenital adrenal hyperplasia (CAH) in children has focused largely on clinical consequences for patients; and until recently, the wider experience of the condition from the perspective of other family members has been neglected. In a mixed methods study, we captured the experiences of parents of young children affected by AI/CAH, including their views on the psychosocial impact of living with and managing the condition. Semi-structured interviews were carried out in the UK and an online survey was developed, translated and disseminated through support groups (UK and the Netherlands) and outpatient endocrinology clinics (Germany). Challenges associated with diagnosis, treatment, support and the future were identified. For UK parents, the diagnosis period was characterised by a lack of awareness amongst healthcare professionals and occurrences of adrenal crisis. Parents reported burden, anxiety and disruption associated with the intensive treatment regimen. Parents adjusted and gained confidence over time yet found delegating responsibility for medication difficult and worried about the future for their child. Access to psychological support and contact with other families was reported as highly beneficial. The findings of the study provide critical context for future studies and for informing how parents and families can be better supported. Prenatal genetic counselling for parents who already have an affected child will include an explanation of recurrence risk but should also focus on providing information and reassurance about diagnostic testing and care for their newborn.

Parental management of adrenal crisis in children with congenital adrenal hyperplasia.

PURPOSE: Congenital adrenal hyperplasia (CAH) requires parents to inject their child with hydrocortisone intramuscularly during times of illness and adrenal crisis. The purpose of this study was to describe circumstances surrounding adrenal crisis events in children with CAH; to explore parents' perceptions of the consequences of having a child with a life-threatening condition; and to examine a relationship between parents' perceived management ability and the impact CAH has on the family. METHODS: In Phase 1 of this mixed-methods, cross-sectional study, 77 parents were asked to complete questionnaires comprising measures of family life in the context of childhood illness. Descriptive statistics were computed with four separate analyses using linear mixed models allowing for correlation between responses from parents of the same family and for the variance to be different for fathers and mothers. The following relationships were examined: (1) parental management ability and type of provider instruction on how to manage adrenal crises; (2) parental management ability and child age; (3) the perceived impact of the condition on the family and management ability; and (4) the age of the child and number of adrenal crisis events. In Phase 2, 16 semi-structured interviews were conducted to elicit detailed descriptions of parents' experiences in managing crises. RESULTS: There was a significant, positive relationship between detailed provider instruction to parents on adrenal crisis management and perceived management ability (p = .02), additionally the stronger the perceived management ability, the less impact CAH had on the family (p < .001). From birth to age 5, parents reported more frequent crisis events and less perceived ability to manage the condition when compared with parents of older children (p = .009). The threat of an adrenal crisis event is a pervasive concern for parents, especially when they are not being properly prepared by providers. PRACTICE IMPLICATIONS: Provider support is needed for these parents throughout childhood, but especially in the first 5 years of life when parents are adjusting to having a child with a life-threatening condition. Identifying gaps in parent education by healthcare providers is necessary to promote positive family outcomes.

Treating congenital adrenal hyperplasia.

Genettreating congenital adrenal hyperplasia.ic alterations associated with rare endocrine diseases disrupt the body's normal chemical communication system. Faulty genes can affect any part of the hormone pathway by altering the way the body recognises a hormone, or how a hormone acts on a target organ. One example is congenital adrenal hyperplasia. CAH results from an inherited alteration in a gene that blocks an essential enzyme (usually 21-hydroxylase) in the adrenal hormone pathway. Synthesis of cortisol (the "stress" hormone) and aldosterone, which regulates the blood pressure through sodium, potassium and fluid balance, is impaired or absent. The adrenal glands enlarge as they work harder to correct the imbalance, resulting in the overproduction of androgens (male hormones); the more severe the enzyme block, the greater the male hormone production. In 95% of people with CAH, it is due to an alteration in the 21-hydroxylase gene, which is recessively inherited (Perrin et al, 2000). One in 55 people is a carrier for CAH (Baumgartner-Parzer et al, 2005).

Metabolopatias. La importancia de una buena actuación enfermera / Metabolopathies. The importance of a good performance nurse

La detección precoz de las enfermedades metabólicas ha constituido un gran paso a lo largo de la historia médica científica, ya que realizando una buena técnica se pueden diagnosticar enfermedades mejorando su pronóstico. Algunas de ellas son: hipotiroidismo, hiperplasia suprarrenal congénita, hiperfenilalaninemia, hemoglobinopatías y fibrosis quística, entre otras. La muestra se puede recoger de dos modos: la llamada extracción única (al tercer día de vida) o la extracción doble (1ª muestra a las 48 horas de vida y la 2ª muestra a partir del cuarto día de vida). Se debe destacar la importancia de protocolizar una idónea técnica para obtener buenos resultados y no dar lugar a muestras erróneas o falsos positivos(AU)

The possibility for early detection of metabolic disorders has been a big step forward in medical history due to using a good technique by which diseases can be diagnosed, improving their outcome. The main disorders that these tests are designed to detect are hypothyroidism, congenital adrenal hyperplasia, hyperphenylalaninemia, hemoglobinopathies, and cystic fibrosis, among others. Samples can be collected by two methods: the single draw (taken on the third day of life) or the double draw (the first sample is taken at 48 hours of life and the second after the fourth day). It is important to institute a good technique in order to obtain good results and prevent erroneous samples or false positives(AU)

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PURPOSE: To provide an in-depth exploration of the complex and potentially life-threatening condition, congenital adrenal hyperplasia (CAH). CONCLUSIONS: CAH affects adrenal gland function, resulting in abnormal steroidogenesis caused by a deficiency or complete lack of the enzyme 21-hydroxylase (accounting for 90% of CAH cases). Clinical manifestations include ambiguous genitalia in female newborns and life-threatening salt-wasting crisis in both male and female newborns. PRACTICE IMPLICATIONS: Nurses should encourage and assist CAH patients and their parents in taking an active role in the management of their condition. Each stage of growth and development will bring new challenges and questions for patients and their parents.

Congenital adrenal hyperplasia: a potential diagnosis for the neonate in shock.

Congenital Adrenal Hyperplasia (C.A.H.) is an autosomal recessive disorder which is often life threatening during the neonatal period prior to establishment of the diagnosis and instigation of appropriate treatment. In females the condition is usually detected at birth due to genital ambiguity. Unfortunately males or extremely virilized females often remain undetected until they suffer a potentially fatal adrenal crisis. Typically, a crisis occurs within the first couple of weeks of life and is preceded by a history of failure to thrive, lethargy and vomiting which may be misdiagnosed as resulting from pyloric stenosis. Vascular collapse and diminished consciousness ensue if adrenal insufficiency remains undetected. Initial biochemical investigation of the shocked neonate with C.A.H. reveals severe hyperkalaemia and hyponatraemia, which initially may be thought to be due to renal failure. Hypoglycaemia may also be a feature. Initial resuscitation requires intravenous saline and hydrocortisone. Once physiologically stable, oral steroids are used to replace absent glucocorticoids and mineralocorticoids. The psychosocial impact of having a critically ill baby, with a relatively uncommon genetic disorder, who requires lifelong treatment can be overwhelming for parents. There is an ongoing risk of adrenal crisis throughout the child's life during periods of physiological stress. Parents require education on the management of medication during normal childhood illnesses; the early indicators of crisis and instruction in injection technique. In addition to skilled technical nursing interventions for their baby, parents can benefit from accurate information and contact with the C.A.H. support group.