Early intervention, disease treatment

As discussed above, in the case of phenylketonuria, early intervention can make the difference between mental retardation and a near normal life course for a newborn. Congenital adrenal hyperplasia and maple syrup urine disease are two examples of neonatal hereditary disorders where early diagnosis and medical intervention can make the difference between life and death for the newborn. In addition, in a number of genetic diseases, early diagnosis and treatment can help ameliorate symptoms these include fragile X syndrome, homocystinuria, sickle cell anemia, cystic fibrosis, and many /1-thalassemias. 

The irony is that early and effective treatment intervention in a disease process often lessens its long-term sequelae. Unrecognized or ineffectively treated childhood and adolescent psychiatric conditions are likely to have profound and lifelong effects on the patient s psychosocial development. They can interfere with the development of self-esteem, with family and peer relationships, with school performance, and, later, in the workplace. The consequences are likely to persist even after the resolution of the acute episode, profoundly affecting further psychosocial adjustment ( 30). Inadequate treatment of pediatric psychiatric disorders may lead to... 

Studies in transgenic mice have suggested that tau pathology is reversible only if intervention occurs early in the disease process [103,104]. Thus, for a drug treatment to be successful, it is feasible that it has to be administered early in disease. 

Hormone therapy has proven highly effective in controlling the menopausal syndrome, especially severe hot flushes (MacLennan et al. 2004), even at doses significantly lower than those used until now (Speroff et al. 2000 Utian et al. 2001). Women s Health Initiative studies found that hormone replacement therapy, when administered as a primary prevention intervention for CVD in older women, increases the risk of heart disease and breast cancer. Even if a protective effect on fracture and colon cancer was observed, the risk-benefit ratio led to a recommendation of this treatment only for the short-term relief of menopausal symptoms (Rossouw et al. 2002 Anderson et al. 2004). The role of early administration of ovarian hormones to young postmenopausal women in the prevention of cardiovascular disease or late dementia remains... 

Sensitization Dopaminergic, noradrenergic NMDA receptors Nucleus accumbens, amygdala, striatum, hypothalamus May explain the adverse effects of early life trauma on subsequent responses to stressful like events. May play a role in the chronic course of many anxiety disorders and, in some cases, the worsening of the illness over time Suggests the efficacy of treatment may vary according to the state of evolution of the disease process. Emphasizes the importance of early treatment intervention... 

Randomized trials and systematic reviews of trials, therefore, provide the most reliable data on the effects of treatment. That is not to say, however, that non-randomized studies cannot sometimes provide reliable evidence on the benefits of intervention. Few people would doubt the validity of the observational data on the benefits of antibiotic treatment in bacterial meningitis or the benefits of treatment with levodopa in Parkinson s disease. Similarly, clinical guidelines have been revised worldwide on the basis of the non-randomized evidence of the substantial reduction in the risk of early recurrent stroke (see Fig. 19.2, p. 245) as a result of the urgent initiation of standard secondary prevention (Rothwell et al. 2007). 

Advances in stem cell therapy have received a great deal of press in recent years. Unfortunately, when public expectations have been raised, patients are likely to search for non-orthodox sources of treatment. There are tens of thousands of internet pages extolling the promise of stem cells, and various forms of stem cell therapy are available on a commercial basis in a number of countries, including China, South America, and Eastern Europe. However, most administer the stem cells in an uncontrolled way and do not have long term follow-up so that rational scientific conclusions cannot be reached. The science provides hope for potential therapeutic interventions in neurodegenerative diseases, but it is in its early stages and much is still needed to be learned about how to control stem cell proliferation, differentiation into specific cells and optimal functional recovery in animal models before human trials. The collection and use of human fetal tissue may also raise ethical concerns. 

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