Section 661.50  Diagnosis and Treatment

The Department shall also maintain a registry to record the results of diagnosis and treatment for all diagnosed cases identified.  It is imperative to perform ongoing evaluation of the newborn screening program.  This process includes outcome evaluation of children diagnosed through newborn screening.  The Department shall request, from the consultant or primary care provider, updated information annually, concerning developmental milestones, for each child diagnosed with a disorder for which the Department screens.  The Department at all times shall maintain confidentiality with regard to patient information.

a)         Phenylketonuria and Hyperphenylalaninemia.  The necessary medically prescribed treatment formulas will be supplied by the Department for diagnosed cases as long as medically indicated.  Long-term follow-up of children with phenylketonuria or hyperphenylalaninemia is necessary to adjust diet and to assess growth and development.  Medical management by a designated consultant is required in order for a patient to receive treatment formulas from IDPH.  The administration of treatment formulas shall not be instituted until a complete amino acid analysis to corroborate the positive screening test has been performed, under the direction of a designated consultant, to establish the diagnosis of phenylketonuria. 

b)         Primary Hypothyroidism.  Medical management by a designated pediatric endocrinologist is highly recommended.  Replacement therapy with thyroid hormone is currently the standard treatment.  Long-term follow-up of children with primary hypothyroidism is necessary in order to adjust medication and to assess growth and development.

c)         Galactosemia. Medical management by a designated consultant is highly recommended.  Therapy with a galactose free diet is currently the standard treatment. Long-term follow-up of children with galactosemia is necessary in order to ensure proper growth and development.

d)         Congenital Adrenal Hyperplasia. Medical management by a designated pediatric endocrinologist is highly recommended.  Replacement therapy with glucocorticoids and, in some cases, mineralocorticoids is currently the standard treatment.  Long-term follow-up of children with congenital adrenal hyperplasia is necessary in order to adjust medications and to assess growth and development. 

e)         Biotinidase Deficiency.  Medical management by a designated consultant is highly recommended.  Therapy with pharmacological doses of biotin is required.  Long-term follow-up of children with biotinidase deficiency is necessary in order to ensure proper growth and development.

f)          Sickle Cell Disease/Trait.  Medical management by a designated pediatric hematologist-oncologist is highly recommended.  Antibiotic prophylaxis and immunization to prevent pneumococcal infections are currently the standard treatment after a definitive diagnosis has been made of a sickling disease by a designated consultant.  Long-term follow-up of children with sickle cell disease is necessary in order to assess growth and development.  For families of infants with sickle cell trait every effort shall be made to assure referral for parental testing and genetic counseling is available.

g)         Other Amino Acid, Organic Acid and Fatty Acid Oxidation Disorders.  The necessary medically prescribed treatment formulas will be supplied by the Department for diagnosed cases as long as medically indicated.  Long-term follow-up of children with these metabolic disorders is necessary to adjust diet and to assess growth and development.  Medical management by a designated consultant is required in order for a patient to receive treatment formulas from IDPH.  Many of these disorders can be properly and supportively managed by dietary therapy.  Ongoing care of these children will require long-term follow-up by the consultant to ensure proper development. 

h)         Cystic Fibrosis.  Medical management by a designated consultant is highly recommended.  Prompt evaluation of exocrine pancreatic status coupled with nutritional counseling is recommended after diagnostic confirmation.  Close follow-up by a consultant is recommended to monitor and treat changes in nutrition and respiratory infection status.

(Source:  Amended at 31 Ill. Reg. 13203, effective August 28, 2007)