Health and Wellness for all Arizonans. azdhs.gov
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2 To identify newborns with certain, rare disorders and assist families of affected infants so that they receive appropriate and timely treatment to prevent or delay serious medical problems. To identify possible hearing loss before one month of age and link families with appropriate assessment and intervention. Sondi Aponte QI, Education & Outreach Manager Office of Newborn Screening Fran Altmaier High Risk Coordinator Office of Newborn Screening
3 6 Components of NBS 1 Education Screening Follow-up Diagnostic Confirmation Management Program Evaluation/Quality Improvement 1-Hearing 28-Inborn Errors of Metabolism 1 disorders/uniformscreening.pdf
4 Newborn Screening Panel Endocrine disorders (2) 29 core disorders Hypothyroidism, CAH Hemoglobinopathies (3) Sickle cell anemia, Sickle beta thalassemia, Sickle C disease Other enzyme deficiencies (2) Biotinidase deficiency Galactosemia Amino acid disorders (6) PKU, MSUD, HCY, CIT, ASA, TYR 1 Fatty acid oxidation disorders (5) CUD, MCAD, VLCAD, LCHAD, TFP Organic acid disorders (9) IVA, GA-1, HMG, 3MCC, MCD, MMAs, PA, BKT Other Conditions Cystic Fibrosis (1) Hearing Loss (1)
5 1 ST SCREEN: Collect between hours of life OR prior to discharge. Although less than ideal, it s never too early. 2 ND SCREEN: Collect between 5-10 days of age OR at first doctor visit if unknown screening status (at least 3 days between screens). Although less than ideal, infants up to 1 yr. of age can be screened.
6 Selecting Disorders for Screening Prevalence Inexpensive and reliable testing Effective treatment/intervention No treatment = death / severe impairment Appears normal at birth
7 Inform Parents about NBS Convey the importance of newborn screening and consequences of delayed identification of affected infants there is no way of predicting affected babies most are identified with no family history most affected babies look normal at birth permanent damage can be done before symptoms appear and some babies can die risk of a disorder is much more likely than winning the lottery
8 Watch this video from the March of Dimes Newborn Screening: A Personal Story
9 Congenital Hypothyroidism Incidence: 1/4000 births national Most cases are sporadic Only about 5% of cases are inherited
10 Congenital Hypothyroidism
11 Congenital Hypothyroidism Untreated Cognitive Disability Poor growth Prolonged neonatal jaundice Poor feeding Treatment Administration of thyroxine (Synthroid) Long-term monitoring of thyroid hormone levels and TSH Constipation
12 Phenylketonuria (PKU) Autosomal recessive Incidence: 1/14,000 births Carrier frequency: 1/60
13 Untreated PKU Cognitive Disability Seizures Eczema Behavioral problems Hypopigmentation
14 Treatment Dietary control of phenylalanine Protein restriction Phenylalanine-free products Monitor plasma phenylalanine levels Normal intelligence is possible with a properly controlled diet
15 Hearing Loss Most common congenital condition in the US 1-3 of every 1,000 babies has some degree of hearing loss By school age the incidence doubles 1 per 100 of every NICU baby will have some degree of hearing loss
16 Goals of the EHDI program Early Hearing Diagnosis and Intervention By 1 month- every baby will have a hearing screening By 3 months- those that do not pass the hearing screening will receive a diagnostic evaluation By 6 months-those with a confirmed hearing loss will be enrolled in Early Intervention
17 In Arizona for infants required a diagnostic hearing evaluation. Of those, 150 were diagnosed with hearing loss and 172 with normal hearing. This means, 436 did not receive a diagnostic evaluation or that their results were never reported to ADHS. 102 newborns were identified with congenital disorders screened through a blood drop and started on treatment early enough to minimize long term negative affects.
18 Early Identification Detecting hearing loss early helps infants meet their developmental milestones and develop the language and social skills they need. A hearing loss that is not found or is found late, can lead to delayed development, behavioral concerns and difficulty in school as a child gets older.
19 ADHS-office of Newborn Screening provides follow up to every baby who did not receive or did not pass their newborn screening Case Management team will continue to provide follow up to a baby up to 2 years or until hearing status is confirmed (normal or hearing loss)
20 Home Visitors and your Role in the EHDI process Ensure babies who do not pass their hearing screening are referred to a Pediatric audiologist Results can be found on the back of the blue immunization card If unable to locate results, call the Office of Newborn Screening and ask for the results
21 If the baby did not pass the hearing screening: Make sure the parents are aware of the results All families whose baby did not pass the hearing screening will receive a letter from DHS reminding them of the results and the need for further testing Help the family contact their pediatrician for a referral to a pediatric audiologist (not an ENT) and make an appointment to have their hearing tested as soon as possible Use EHDI-PALS to find an audiologist Encourage the family to follow up with the appointment If the baby is diagnosed with a bilateral hearing loss, help make sure that they re referred to early intervention (AzEIP)
22 There are 2 types of hearing screenings ABR (Auditory Brainstem Response) The ABR test measures the reaction of the parts of a baby s nervous system that affect hearing (the hearing nerves response to sounds) Simply put, it measures the brains response to sounds OAE (Otoacoustic Emissions) The OAE tests the function of the Cochlea and the inner ear and how it responds to sounds Simply put, it measures the inner ears response to sounds
23
24 Babies who spend > 5 days in the NICU should be tested using ABR to improve identification of auditory neuropathy/auditory Dys-synchrony (AN/AD) If a baby has AN/AD OAE s will be normal (normal cochlea function) ABR s will be abnormal (brain not responding to sounds)
25 Authority Arizona Revised Statutes Title 36, Chapter 6, Article 5 ( and ) Arizona Administrative Code Title 9, Chapter 13
26 Professional and Parent Resources 50 Years in Newborn Screening FAMILY STORIES Evidence Based Materials What to Expect Before, During and After Birth
27
28 Newborn Screening: Toward a Uniform Screening Panel and System National Institute of Health-Library of Medicine Genetic Alliance National Newborn Screening & Genetics Resource Center American College of Medical Genetics Clinical & Laboratory Standards Institute References National Center for Hearing Assessment and Management (NCHAM)
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