Expanded Newborn Screening: The Nutrition Perspective Nutrition 526 November 5, 2008 Beth Ogata, MS, RD [email protected].
Download ReportTranscript Expanded Newborn Screening: The Nutrition Perspective Nutrition 526 November 5, 2008 Beth Ogata, MS, RD [email protected].
Expanded Newborn Screening: The Nutrition Perspective Nutrition 526 November 5, 2008 Beth Ogata, MS, RD [email protected] Nutrition Involvement in NBS Policy Diagnostic/coordination Clinical Community Example: infant with galactosemia Symptoms in newborn, if untreated – Vomiting, diarrhea – Hyperbilirubinemia, hepatic dysfunction, hepatomegaly – Renal tubular dysfunction – Cataracts – Encephalopathy – E. coli septicemia result – Death within 6 weeks, if untreated Also – Duarte variant – galactokinase deficiency – uridine diphosphategalactose-4-epimerase deficiency Galactose-1-phosphate uridyl transferase (GALT) deficiency Example: infant with galactosemia Treatment: eliminate all galactose from diet Primary source is milk (lactose= galactose + glucose) Secondary sources are legumes Minor? sources are fruits and vegetables Food labels – milk, casein, milk solids, lactose, whey, hydrolyzed protein, lactalbumin, lactostearin, caseinate Medications (lactose is often an inactive ingredient) Dietary supplements Artificial sweeteners Monitoring: galactose-1-phosphate levels <3-4 mg/dl Example: Infant with galactosemia POLICY CLINICAL MANAGEMENT RD participated on State Advisory Board to select disorders, including galactosemia RD provides nutrition care as member of the Biochemical Genetics Team: •Initiation of formula •Guidelines for monitoring intake •Plans for follow-up DIAGNOSIS & COOORDINATION “Presumptive positive” RD in contact with family and local providers to discuss appropriate feeding practices and arrange clinic appointment RD as case manager COMMUNITY RD at local health department provides ongoing education to family, local care providers Nutrition and NBS: Policy Screening process (disorders, procedures) RD participated in Advisory Board meetings, providing input about nutrition-related treatment Services and reimbursement Nutrition consultant to state CSHCN Program RD provides input about relevant state Medicaid policies Training and education RD provides information about management of metabolic disorders to local WIC agencies Nutrition and NBS: Clinical Management – PKU Phenylketonuria – Phenylalanine hydroxylase – Dihydropteridine reductase – Biopterin synthetase Establish diagnosis – Presumptive positive NBS results > 3 mg/dL, >24 hrs of age – Differential diagnosis serum phe, nl tyr r/o DHPR, biopterin defects Current Treatment Guidelines With effective NBS, children are identified by 7 days of age Initiate treatment immediately Maintain phe levels 1-6 mg/dl (60360 umol/L) Lifelong treatment Outcome Expectations With NBS and blood phenylalanine levels consistently in the treatment range – Normal IQ and physical growth are expected With delayed diagnosis or consistently elevated blood levels – IQ is diminished and physical growth is compromised Clinical Management: PKU Goals of Nutrition Therapy Normal growth rate Normal physical development Normal cognitive development Normal nutritional status Clinical Management: PKU Correct substrate imbalance – Restrict phenylalanine intake to normalize plasma concentration Supply product of reaction – Supplement tyrosine to maintain normal plasma tyrosine levels Phenylalanine -------------------//----------------------- Tyrosine (substrate) phenylalanine hydroxylase (product) Goals of Nutrition Support for Phenylketonuria (PKU) Maintain plasma phenylalanine (phe) between 1-6 mg/dl – Without PKU, phe ~ 1.0 mg/dl Maintain plasma tyrosine (tyr) between 0.9–1.8 mg/dl – Normal = 0.9-1.8 mg/dl Goals of Nutrition Support for Phenylketonuria (PKU) Interpretation of phenylalanine levels ~1 mg/dl Normal 1-6 mg/dl Excellent 6-10 mg/dl Good 10-15 mg/dl Caution 15-20 mg/dl Dangerous > 20 mg/dl Very damaging Phe Levels from NBS to Tx Diagnostic levels Blood levels every 2 days because of rapid growth Equilibrium achieved by 14 days of age Adjustments necessary to maintain “safe” blood phe levels Usual intake of phe – Newborn on formula 20 oz x 22 mg phe/oz = 440 mg phe – 1 yo child on “regular” diet 30 g protein = 1500 mg phe (DRI = 13.5 g) – 7 yo child on “regular” diet 50 g protein = 2500 mg phe (DRI = 19 g) Phenylalanine – 250 mg/d requirement Management Tools Specialized formula provides – – – – 80-90% energy intake 89-90 % protein intake tyrosine supplements no phenylalanine Phenylalanine to meet requirement from infant formula or foods Formula Composition Regulated by FDA – Renal solute load – Carbohydrate source – Fat source – Amino acid source – Vitamin and mineral content Designated by clinician – – – – – Protein/energy ratio Specific amino acid Fluid balance Total protein Total energy Effect of a single amino acid deficiency on growth Food Choices for PKU Sample Menu: ~1 year old Food Protein (g) ¼ cup Cheerios 0.8 ½ banana 0.6 ½ cup milk 4 2 graham crackers 2 32.5 grams ½ cup milk 4 ¼ tuna sandwich 8 (1625 mg phe) ½ peach 0.6 2 saltines 0.6 ¼ cup juice 0 ½ cup milk 4 ½ banana 0.6 ¼ cup cottage cheese 7 ¼ cup green beans 0.3 TOTAL 32.5 >>1625 mg phe Total Protein: DRI (protein): 13.5 grams (~675 mg phe) Phe requirement: 250 mg Sample Menu: ~1 year old Food Protein (g) ¼ cup Cheerios 0.8 ½ banana 0.6 ½ cup milk 4 2 graham crackers 2 ½ cup milk 4 ¼ tuna sandwich 8 ½ peach 0.6 2 saltines 0.6 ¼ cup juice 0 ½ cup milk 4 ½ banana 0.6 ¼ cup cottage cheese 7 ¼ cup green beans 0.3 TOTAL 32.5 5.5 g protein >>1625 250 mg phe To meet 250 mg phe minus milk, tuna, cottage cheese: Total Protein:5.5 g •Is this adequate protein to support growth? •Is this adequate energy to support growth? •What about adequacy of other nutrients? Tools of Management: Low protein food products Phe content of regular products Phe content of low protein products Rice 300 mg/cup LP rice 23 mg/cup Pasta 163 mg/cup LP pasta 5 mg/cup Bread 105 mg/slice LP bread 10 mg/slice Cheerios 93 mg per ½ cup LP Loops 5 mg per ½ cup Saltines LP saltines 3 mg/5 crackers 65 mg/5 crackers Potatoes 145 mg/cup Typical Food Pattern for a Child with PKU 1 year old, weight & length at 50th %ile for age Energy needs: 1000-1300 kcal Protein needs: 20 g Phenylalanine needs: 250 mg Formula prescription: – Phenyl-Free: 125 g – Similac pdr: 50 g – Water to 40 oz Food prescription: – 25 mg phe, 200 kcal, 0.5 g protein Monitoring Adequacy of Treatment Measure plasma amino acids – Maintain in treatment range Monitor nutrient intake – Restrict phenylalanine, supplement tyrosine, adequate protein, energy, other nutrients to support growth and ensure good health Monitor growth increments – Typical growth expected Monitor cognitive development – Typical achievement expected Effective Blood Level Management in Childhood Blood levels once per month, or more frequently if needed for good management Age of Child 0-6 months 6 months 6-7 months 8-9 months 10-15 months 2-3 years 4-5 years PKU Management Guidelines Selfmanagement Skills 5-6 years 7-10 years 10-12 years 13-14 years 15-17 years 18 years Tasks for Children and Parents Parents learn about and adjust to PKU Start low-protein solid foods Introduce cup Introduce finger foods Consider weaning from bottle (discuss transition with clinic staff) Learn the concept of “formula first” Learn to distinguish “yes” and “no” foods Begin to learn to count foods – “how many” Begin to use scale – “how much” Assist in formula preparation Teach children how to deal with other children’s curiosity about PKU Prepare formula with decreasing supervision Choose after school snack Learn to pack school lunch Begin to list foods on food record Begin weighing food regularly on scale Begin to prepare and consume formula independently each day (with parental monitoring) Prepare simple entrees independently Know what blood levels are ideal Increasing self-monitoring (with continued parent support) in formula preparation and consumption Independently manage total phenylalanine intake for the day Learn menu planning Responsible for food records Responsible for all aspects of self-management Able to do ‘finger poke’ for blood test Able to explain basics of PKU – “What is it?” Responsible for remembering recent blood levels Continued parent support Transition to adult-based clinic care Ready to live independently, including: -formula preparation and consumption -food preparation and records -monthly serum phenylalanine levels Goal of Lifetime Management of PKU To maintain metabolic balance while providing adequate nutrients and energy for normal physical and intellectual growth Maternal PKU Concerns/Outcomes Women with PKU are at high risk for delivering a damaged infant – Placenta concentrates phe 2-4x Microcephaly Cardiac problems Infant IQ directly related to maternal blood phe level Outcome improved with maternal blood phe <2 mg/dl prior to conception and during pregnancy Nutrition and NBS: Community – Glutaric Acidemia, type I Defect in lysine and tryptophan catabolism Treatment: – LYS- and TRP- restriction (specialized formula, low protein food pattern) – Riboflavin – Frequent monitoring – Aggressively prevent catabolism metabolic crisis Symptoms: – Macrocephaly, frontotemporal atrophy and delayed myelination – Myoclonic seizures, ataxia, choreoathetosis – Intermittent metabolic acidosis Glutaryl-CoA dehydrogenase deficiency Example: Infant with GAI 12 month old Medical conditions: – – – – Glutaric acidemia, type 1 (identified by NBS) Cystic fibrosis Meconium ileus (repaired) GER Goals: optimal nutrition status, avoid metabolic decompensation Simplified nutrition-related history – Breastmilk (or Isomil)+ Glutarex-1 to restrict lysine – MCT oil, concentrated formula for weight gain; pancreatic enzymes – Solid foods introduced when developmentally appropriate – NG tube g-tube placed by 2 mo Example: Infant with GAI “The Players” Family: mother, father, infant, extended family Biochem team: geneticist, nutritionist, genetic counselor Pulmonary team: pulmonologist, nutritionist, social worker, nurses Primary care: pediatrician Community: therapists, WIC nutritionist, public health nurse, home infusion company Example: Infant with GAI MNT and monitoring plan: Formula – preparation, “recipe,” tolerance Blood levels – schedule, lag between draw and results Growth and nutrient needs – balance approaches for CF and GA1 Food – introduction of solids, oral aversion Prioritization Communication Nutrition and NBS: Community PHN and interpreter make monthly visits to family of young child with MSUD. Through pre-arranged phone calls, we can discuss formula composition and preparation, and solid foods. This helps provide information between regular clinic visits. Nutrition and NBS: Community A woman with PKU is enrolled in te First Steps program (WA State MSS) The RD with PKU Clinic provides consultation to the First Steps RD, about management of amino acid levels. Nutrition and NBS: Community The family of a child with propionic acidemia receives formula from home infusion company. The home infusion RD is able to make home visits to evaluate growth and intake, and communicates with clinic RD. This helps to ensure that the family is able to implement recommendations. Nutrition and NBS: Community The baby has a “positive PKU test” What were the blood phenylalanine (phe) or other critical elevated blood levels? When was the sample collected? What is the protocol for confirming the diagnosis? When was the diagnosis made? Did this referral come from a screening test? If so, what is the next step toward diagnosis? Is the family aware of the results? Information Needed by Community and Metabolic Teams Before MNT is Initiated If an infant has been identified by NBS: Which NBS results are positive Birth date and age of the infant Birth weight and gestational age Current weight Current form of feeding, and intake Current health status of the infant Critical Questions about Follow-up and Coordination of Treatment Who is your contact at the metabolic center? What is the recommended treatment for the disorder? What nutrition intervention is required? How is this monitored? What is the mechanism for follow-up and testing? Who will prescribe the specialized formulas? How will the community and metabolic teams communicate about intervention? The Team Child Age-appropriate self-mgmt skills Parents Health status monitoring, teaching, advocacy Nutritionist MNT, feeding skills Geneticist Medical monitoring Lab Laboratory monitoring Medical Home Well Child Care, family support Psychologist Developmental monitoring, screening Community Providers (RD, PHN) Family support in community School Educational programs, tx monitoring Therapists (OT, PT, SLP, etc.) Developmental monitoring and intervention NBS and the Community: Challenges Understand the implications of the results of newborn screening tests Develop a communication system between the community providers and the metabolic team for support of treatment Interact with PCPs and families as needed, to support appropriate MNT NBS and the Community: What you need to know Which disorders are identified by NBS in your state? Where do you find this information? What is the difference between screening and diagnostic results? What is the system for follow-up of presumptive positive NBS results? How do you make referrals to regional genetics clinics and specialty care clinics? Caveats to Ponder Is it really a disorder? What are we talking about? – Is GA1 really so different than GA2? – If we’re out of MSUD Analog, can we use MSUD Maxamaid? Screening vs. diagnosis Is it really PKU? Scenes from the Annals of Reporting and Acting on NBS Results A primary care physician telephones are reports there is a new baby with PKU and asks that you please start the infant on formula ASAP. What additional information do you need? What would you do? Scenes from the Annals of Reporting and Acting on NBS Results You are on-call for the weekend for your local hospital and you receive an order from the newborn nursery on an infant with presumptive galactosemia and a request for the initiation of treatment. What additional information do you need? What would you do? Additional Information Washington State Newborn Screening http://www.doh.wa.gov/ehsph/phl/newborn/default.htm Star G-Screening, Technology, and Research in Genetics http://newbornscreening.info National Newborn Screening and Genetics Resource Center http://genes-r-us.uthscsa.edu Building Block for Life Volume 27, No 1. Pediatric Nutrition Practice Group (Expanded NBS) Building Block for Life Volume 30, No 3. Pediatric Nutrition Practice Group (Genetics and Expanded NBS)