Intro to Psychology

Intro to Psychology
from bluffton.edu

Methods of Empirical Research
Behavioral Approach
Biological Psych
Social Influence
Cultural/Systemic Approach: Family Systems
Sensation & Perception
The Cognitive Approach
Psychological Disorders
Clinical/Counseling Psychology
Developmental Psychology
Faith Development

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Expanded Newborn Screening: The Nutrition Perspective

Expanded Newborn Screening: The Nutrition Perspective
By:Beth Ogata, MS, RD

Nutrition Involvement in NBS
* Policy
* Diagnostic/coordination
* Clinical
* Community
Example: infant with galactosemia
* Symptoms in newborn, if untreated
o Vomiting, diarrhea
o Hyperbilirubinemia, hepatic dysfunction, hepatomegaly
o Renal tubular dysfunction
o Cataracts
o Encephalopathy
o E. coli septicemia result
o Death within 6 weeks, if untreated
o Duarte variant
o galactokinase deficiency
o uridine diphosphate-galactose-4-epimerase deficiency
Galactose-1-phosphate uridyl transferase (GALT) deficiency
Example: infant with galactosemia
* Primary source is milk (lactose= galactose + glucose)
* Secondary sources are legumes
* Minor? sources are fruits and vegetables
* Food labels
o 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
Treatment: eliminate all galactose from diet

Example: Infant with galactosemia
DIAGNOSIS & COOORDINATION
CLINICAL MANAGEMENT
RD as case manager
Nutrition and NBS: Policy
Nutrition and NBS: Clinical Management – PKU
* Phenylketonuria
o Phenylalanine hydroxylase
o Dihydropteridine reductase
o Biopterin synthetase
* Establish diagnosis
o Presumptive positive NBS results
+ > 3 mg/dL, >24 hrs of age
o 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 (60-360 umol/L)
* Lifelong treatment
Outcome Expectations
Clinical Management: PKU
Goals of Nutrition Therapy
* Normal growth rate
* Normal physical development
* Normal cognitive development
* Normal nutritional status
* Correct substrate imbalance
* Supply product of reaction
o Supplement tyrosine to
Goals of Nutrition Support for Phenylketonuria (PKU)
Interpretation of phenylalanine levels
Adjustments necessary to maintain “safe” blood phe levels
Management Tools
Formula Composition
* Regulated by FDA
o Renal solute load
o Carbohydrate source
o Fat source
o Amino acid source
o Vitamin and mineral content
* Designated by clinician
o Protein/energy ratio
o Specific amino acid
o Fluid balance
o Total protein
o Total energy
Effect of a single amino acid deficiency on growth
Food Choices for PKU
Tools of Management: Low protein food products
Typical Food Pattern for a Child with PKU
Monitoring Adequacy of Treatment
Effective Blood Level Management in Childhood
Self-management Skills
Goal of Lifetime Management of PKU
Maternal PKU Concerns/Outcomes
Nutrition and NBS: Community – Glutaric Acidemia, type I
Glutaryl-CoA dehydrogenase deficiency
Example: Infant with GAI
Nutrition and NBS: Community
The baby has a “positive PKU test
Critical Questions about Follow-up and Coordination of Treatment
What you need to know
Caveats to Ponder

Expanded Newborn Screening: The Nutrition Perspective.ppt

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Quick Reference to Newborn Screening Disorders

Quick Reference to Newborn Screening Disorders

Biotinidase Deficiency - BIOT is an enzyme deficiency that occurs in about 1 in 60,000 U.S. newborns and can result in seizures, hearing loss, and death in severe cases. Treatment is simple and involves daily doses of biotin.

Congenital Adrenal Hyperplasia – 21-Hydroxylase Deficiency - CAH is caused by decreased or absent production of certain adrenal hormones. The most prevalent type is detected by newborn screening in about 1 in 9,000 Texas newborns. Early detection can prevent death in boys and girls and sex misassignment in girls. Treatment involves lifelong hormone replacement therapy.

Congenital Hypothyroidism Inadequate or absent production of thyroid hormone results in CH and is present in about 1 in 2,000 Texas newborns. Thyroid hormone replacement therapy begun by 1 month of age can prevent mental and growth retardation.

Galactosemia – Galactose-1-Phosphate Uridyltransferase (GALT) Deficiency - Failure to metabolize the milk sugar galactose results in GAL and occurs in about 1 in 50,000 U.S. newborns. The classical form detected by newborn screening can lead to cataracts, liver cirrhosis, mental retardation and/or death. Treatment is elimination of galactose from the diet usually by substituting soy for milk products.

Homocystinuria - HCY is caused by an enzyme deficiency that blocks the metabolism of an amino acid that can lead to mental retardation, osteoporosis and other problems if left undetected and untreated. The incidence is approximately 1 in 350,000 U.S. newborns. Treatment may involve a restricted protein diet and supplemental medicines, including Vitamin B6.

Maple Syrup Urine Disease (MSUD) - MSUD is a defect in the way that the body metabolizes certain amino acids and is present in about 1 in 200,000 U.S. newborns. Early detection and treatment with a restricted protein diet can prevent death and severe mental retardation. There is an increased risk in Mennonites.

Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency - The most common disorder in the way the body metabolizes fatty acids is called MCAD deficiency. Undetected, it can cause sudden death. Treatment is simple and includes ensuring frequent food intake. The incidence from newborn screening is not yet known, but is thought to be approximately 1 in 15,000 U.S. newborns.

Phenylketonuria (PKU) - An enzyme defect that prevents metabolism of phenylalanine, an amino acid essential to brain development, is known as PKU and occurs in approximately 1 in every 23,000 Texas newborns. Undetected and untreated with a special restricted protein diet, PKU leads to irreversible mental retardation.

Sickle Cell Disease (SCD) – includes Sickle Cell Anemia (Hb SS), Sickle Beta Thalassemia (Hb S/?Th) and Sickle-Hemoglobin C Disease (Hb S/C) - Sickle cell anemia is the most prevalent SCD and causes clogged blood vessels resulting in severe pain and other severe health problems. Newborn screening detects about 1 in 2,500 Texas newborns with SCD annually. Persons of African or Mediterranean descent are at an increased risk. Early treatment with daily penicillin prevents death in the first few years of life.

Tyrosinemia Type I -TYR is caused by a deficiency in the liver of one enzyme that breaks down tyrosine. If not treated, the condition causes severe liver disease and other health problems. Treatment consists of medication including vitamin D and nitisinone, and a special restricted protein diet. Estimated incidence is 1 case in every 100,000 live births.

Fatty Acid Oxidation (FAO) Disorders include Carnitine Uptake Defect (CUD), Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD), Trifunctional Protein Deficiency (TFP) and Very-Long-Chain Acyl-Co A Dehydrogenase Deficiency (VLCAD) - Disorders besides MCAD deficiency, other FAO disorders may be detected through newborn screening. They are usually described in categories based on the length of the fatty acid involved. Undetected and untreated they can cause seizures, coma, and even death. Treatment may include a low fat diet, frequent food intake, supplementation with L-Carnitine (Carnitor) and medium chain triglycerides.

Organic Acid (OA) Disorders include 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC), Beta-Ketothiolase Deficiency (BKD), Glutaric Acidemia Type I (GAI), Hydroxymethylglutaric Aciduria (HMG), Isovaleric Acidemia (IVA) Methylmalonic Acidemia(MMA) (Cbl A and Cbl B forms) ( Cbl A,B), Methylmalonic Acidemia (mutase deficiency form) (MUT), Multiple Carboxylase Deficiency (MCD) and Propionic Acidemia (PROP) - Organic acidemias are a group of metabolic disorders that lead to accumulation of organic acids in the blood and urine and may be detected in newborn screening through analysis of acylcarnitine profiles. Symptoms can be diminished by restricting protein in the diet and supplementation with vitamins and/or L-Carnitine.

Urea Cycle Disorders (UCD) include Argininosuccinic Acidemia (ASA) and Citrullinemia (CIT) - A UCD is a genetic disorder caused by a deficiency of one of the enzymes responsible for removing ammonia from the blood stream. Some UCDs may be detected as a part of newborn screening. They are characterized by seizures, poor muscle tone, respiratory distress, and coma, and result in death if left undetected and untreated. Treatment is by a special restricted protein diet and medications including phenylbutyrate to remove ammonia.

Quick Reference to Newborn Screening Disorders.ppt

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