Psychometric parameters in patients with phenylketonuria and galactosemia of the National Newborn Screening in Greece.

Background

Chronic diseases are defined as illnesses which are of prolonged duration (more than three months). Genetic syndromes, physical impairments, deficiencies, disabilities as well as all those pathological conditions are characterized as chronic and they ultimately lead to the impairment of a person`s normal physical and mental ability. Greek Newborn Screening Program detect and follow up newborns with two inherited disorders of metabolism, phenylketonuria and galactosemia. Doctors of the Clinical Section in the Newborn Screening Department with the Psychologist are responsible to contact the families by explaining them the disease and arrange follow up in order to start treatment and monitor the patients. Doctors with the dietitian explain the treatment protocol and parents visit the psychologist in the same medical appointment, who emphasizes the importance of treatment and diet. Particular emphasis is given to the fact that those children who follow up the right treatment haven’t developed any of the devastating symptoms and signs of the disease.

Methods

In the initial stage the psychologist supports the family to understand, accept and be able to support his child with chronic disease. At a later stage, children are assessed with psychometric tools (Anomilo 4, Peabady III and WISC V) and parents are informed about the child`s skills by using specialized tools that assess anxiety and depression in relation to their child`s illness. Finally, adolescent and adult patients are trained to manage their needs in relation to their disease and their treatment without degrading quality of life.

Results

Managing stress helps parents with chronic metabolic disease better support their children’s lives. Individualized assessments of children help the psychologist understand the child`s needs and support them. Finally In adolescent and adult patients we record the way in which they understand the disease and if there are negative feelings we intervene by helping them to be adapted in the therapeutic protocol without any anxiety, depression, social isolation and improving finally their quality of life.

Conclusion

Early intervention in patients’ parents helps improving their ability to support their children’s right treatment and improve their emotional balance. Furthermore, systematic follow up of adolescents and adults is important preventing any early depressive behaviors that deteriorate their quality of life.