Health Promotion Recommendations

      Respond to two peers’ post regarding their differential diagnosis list and/or plan. What did you find interesting about their response? How did their differential diagnosis list or plan compare to yours? Do you agree with their plan and recommendations? Responses need to address all components of the question, demonstrate critical thinking and analysis and include peer-reviewed journal evidence to support the student’s position. Please be sure to validate your opinions and ideas with citations and references in APA format. **RESPONSE 1 TO N.B.*** Positive Findings: Three-day old with poor feeding habits, weak suck Increased sleeping Appears lethargic, sunken eyes, pale skin, Laying on table in “fencing” pose Poor tone and muscle strength Tip of otoscope sweet smell once removed from ear Very few sweet-smelling wet diapers PE findings: mildly elevated temp (99.7 F), tachycardic Vaginal birth at home 5th percentile in weight Infant and siblings not vaccinated Faint murmur detected Negative Findings: Born 38 weeks vaginally at home with no complications at birth or during pregnancy Infant is breastfed Normal-length and head circumference Mother denies tobacco, drug, and alcohol use during pregnancy. Lives with parents, siblings, and maternal grandparents No significant family, personal, social history No tobacco exposure in home All other PE findings unremarkable Additional Information: Is there any family history of metabolic disorder? Has the infant tolerated breastfeedings? Was a newborn screening performed at birth? Differential Diagnoses: Maple syrup urine disorder (primary) - Maple syrup urine disorder (MSUD) is a rare, inborn error of metabolism that can result in fatal irreversible neurocognitive deficits (Hassan, 2021). Classic presentation includes poor feeding and unusually sweet (maple syrup) odor to urine and cerumen. Neonatal Diabetes Mellitus - is a rare metabolic disorder diagnosed within the first 6 months of life and presents as dehydration and uncontrolled hyperglycemia (Lemelman et al., 2018). Inborn Errors of Metabolism - Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy (U.S. National Library of Medicine, n.d.). Treatment Plan: The infant should be hospitalized for evaluation and treatment. Treatment should be aimed at immediate medical intervention for metabolic crises, lifelong therapy to maintain an acceptable diet; and life-long maintenance of normal metabolic conditions including the levels of the branched-chain amino acids (BCAA)in the body (NORD, 2020). The patient must be placed on a protein-restricted diet that limits the amount of BCAAs they can eat. There is narrow window to ensure the patient continues to receive enough food and protein for normal growth and development and maintaining a therapeutic range. The patient may also be given thiamine to determine if the type of MSUD is responsive. State or Federal Resources The patient’s parents should be given information about The MSUD Family Support Group which can provide a wealth of information regarding testing, treatment, and resource contacts. Health Promotion Recommendations The patient should receive newborn screening and be referred to emergency services. It is recommended that the children in this family be vaccinated against preventable diseases. ***RESPONSE 2 TO C.H.*** Pertinent Positives poor feeding habits - weak suck very few sweet-smelling wet diapers 1 bowel movements per day, dark in color Poor tone and muscle strength Laying on table in “fencing” pose Tachycardic with murmur Siblings and child not UTD on immunizations Mennonites sleeping more Pertinent Negatives Born at home at 38 weeks’ gestation Vaginal birth without complications or trauma Hypoactive bowel sounds Negative for "hip click" denies tobacco use, drug use, or alcohol use during pregnancy Breastfed Siblings have no significant medical history NKDA Lives with his mother, father, siblings, and maternal grandparents Other Information to Obtain What was the birth weight? How long are the feedings? Does the baby have any GI upset symptoms like gas, belching or vomiting? How many hours a day does the baby sleep? Irritability Apnea Opisthotonos Bicycling movement Differential Diagnosis Maple Syrup Urine Disease Failure to Thrive Ketoacidosis Priority Diagnosis Plan MSUD Therapeutics – This patient will need to be transferred to a pediatric emergency room. Diagnostics include a multigene panel with deletion/duplication analysis. BCKDHA, BCKDHB, and DBT. Breast milk should be expressed and assessed for leucine quantity (Strauss et al., 2020). If levels are elevated, feeding can be transitioned to a BCAA-free powder version of infant formula. 10 mg/mL solutions of isoleucine, valine, & leucine in distilled water can be used to maintain leucine levels in a range of 65 – 85 mg/kg/day. IV glucose and insulin and be given to regulate blood serum levels of necessary BCAAs. Since the baby is not feeding well an NG tube will be inserted to deliver essential nutrients and hydration. By this point dehydration and malnutrition are critical factors. Dialysis may be needed to filter out toxic levels of the amino acids. State or Federal Resources NORD stands for National Organizations of Rare Diseases is an organization that can help patients and their families with information and connecting to resources to help better understand and manage a variety of rare diseases, including MSUD. The MSUD Family Support Group is a more specific community resource that is available. They have information on treatments and various stages of the disease process. More locally, the Florida Newborn Screening association can help connect parents to research, providers, continuing education, and more resources. This can be a useful website for parents to connect with to look up reliable information as their needs change with the baby’s condition. Health Promotion Recommendations The parents should be counseled about their vaccine beliefs. They should receive education about the importance of completing vaccines on the recommended schedule for their baby. Ideally, if they were able to be swayed, their other children should be placed on an immunization catch up schedule as well. The parents need education about the dietary needs of their baby, ways to assess the mother’s breastmilk, continuing monitoring that will be needed, and ways to adjust nutrition based off the presenting signs and symptoms. Breastfeeding teaching regarding proper latching and supplements if milk production is an issue.