Determinants of Health Status and Quality of Life of Patients and Their Parents With Inherited Metabolic Diseases Diagnosed During Childhood and Requiring Restrictive and Specific Diet

The study population is a dynamic/open cohort consists of all patients MHMRS diagnosed and supported in one of the six Centers of Reference for Metabolical disease or one of the three Centers of Competence for Hereditary Metabolic Diseases or in the Center of Réference for Hereditary liver Metabolism Diseases since 2000. For each patient, the date of entry into the cohort is the diagnostic date of MHMRS. The study includes all prevalent and incident cases .

The evaluations include all data collected by querying patients and their families and medical data collected by the medical team.

The data collected concern in one hand explanatory variables characterizing the state of health and quality of life of patients, on the other variables describing the factors considered as potential determinants, namely:

• Socio -demographic and socio-economic on the patient and family.
• Clinical and therapeutic relative to the patient : age at the time of diagnosis, illness and consequences, type of treatment and diet.
• On possible alterations of physical health: overall assessment of the importance of using health professionals and specific description of the various physical health problems.
• Psycho- behavioral and cognitive.
• Quality of life of patients and their family.
• On the patient's relationship with the care system (access to care and satisfaction).

The frequency of evaluations is 2 years. The evaluation will be at a consultation in the usual medical monitoring way up conducted in these children, allowing to collect clinical information directly nearby medical teams that support them.