What Are Some Common Presentations for Inborn Errors of Metabolism?

Patient Presentation
A 14-year-old male was admitted for increasing seizures and a febrile illness. He had recently moved to a new care facility but had lived in one for several years because of ornithine transcarbamalyse deficiency (OTC deficiency), severe mental retardation and seizures, and he needed 24 hour nursing care and supervision. He had a temperature of 102° F off and on for 2 days. He was non-verbal but appeared to be having a sore throat to the staff. His seizures had increased from 2-3 tonic-clonic seizures/day to 6-7/day especially when anti-pyretics wore off. He also hadn’t been drinking as well. The staff at the new facility was very concerned and felt that they could not properly care for him, so he was transferred. The past medical history showed that he was diagnosed with OTC deficiency after multiple episodes of emesis. An allopurinol challenge test showed increased orotic acid. He also had a history of 2 episodes of cystitis but the evaluation of his genitourinary systems were negative. The review of systems showed minor cough, no rhinorrhea, rashes, or changes in bowel habits, but he did have some decreased urination.

The pertinent physical exam showed a non-verbal male with a temperature of 101.5° F and his respiratory rate was 30. His weight was 50%. HEENT revealed thick secretions in his mouth and purulent material on the tonsils. He became somewhat agitated when examining his mouth. Bilateral tympanic membranes were thickened and had decreased movement but had no erythema. There were shoddy anterior cervical nodes. Heart was normal but his lungs had coarse breath sounds and slightly diminished sounds on the right. Abdomen was normal. Neurologically he would look at the examiner, and would help with movement in the bed. His capillary refill was about 2 seconds. The laboratory evaluation showed a complete blood count with a hemoglobin of 11.5 mg/dl, white blood cell count of 16.4 x 1000/mm2 with a 20% left shift. Urinalysis, glucose and electrolytes were normal. A rapid strep test was positive. His portable chest x-ray showed some consolidation at the right lung base. The diagnosis of group A, beta-hemolytic streptococcal pharyngitis and possible lobar pneumonia was made. Because he was somewhat dehydrated he was given intravenous fluids with glucose and one dose of ceftriaxone. Genetics was consulted to assist with his OTC treatment. His glucose and electrolytes were always normal and he then began to eat his normal diet after 24 hours. Neurology was also consulted and they did not want to change his medication as he had been well controlled previously. He became afebrile and was discharged to his care on day 2 on oral antibiotics to finish a 10 day course. He had had 3 seizures in the prior 24 hours, and slightly diminished breath sounds on the right at discharge.

Discussion
Each inborn errors of metabolism (IEM) by itself is often rare but taken as a whole, IEM are common. IEM often present in the newborn or infancy periods but can present at any time including adulthood. The genetic defect often causes a problem in the catabolism or synthesis of carbohydrates, fats, or proteins. The defect causes a blockage in the metabolic pathway with intermediate molecules accumulating (often toxic accumulations) before the blockage and metabolites after the blockage being scarce (inadequate energy production/utilization). Diet and stresses including surgery, trauma, and illness often can trigger intermittent decompensation.

Common IEM include:

  • Carbohydrate metabolism – carbohydrate intolerance, geoneogenic and glycogenolytic disorders, glycogenic storage defects
  • Fat metabolism – fatty acid oxidation
  • Protein metabolism – amino acidopathy, organic acidopathy, urea cycle defects
  • Oxidation defects – mitochondrial disorders, peroxisomal disorders
  • Storage disorder – lysosomal storage disorders

Learning Point
Some presentations of IEM include:

  • Acute encephalopathy
    • Usually due to toxic accumulations in organic acidemia, urea cycle defects and some amino acidemia
    • Presentation may include lethargy, poor feeding, vomiting, abnormal muscle tone, tachypnea and decreased arousal progressing to coma
    • Acute encephalopathy caused by IEM often have:
      • Hyperammonemia
        • Usually due to urea cycle defects and organic acidemia, or transient hyperammonemia of the newborn
        • Ammonia is usually in the 1700 mcg/dL but can be lower. Ammonia > 100 mcg/dL in the neonate or >80 mcg/dL in an infant are considered elevated
      • Metabolic acidosis with an increased anion gap
        • Usually due to organic acidemias such as methylmalonic acidemia, propionic acidemia and isovaleric acidemia
        • A normal anion gap is usually due to diarrhea or renal tubular acidosis
        • Pyruvate and lactate are often abnormal
  • Hypoglycemia
    • Usually due to glycogen storage diseases and fatty acid oxidation
    • Presentation may include organomegaly (tongue, liver, heart), symptoms consistent with congestive heart failure, arrhythmia, tachypnea, hypotonia, mental status changes
    • Hyperammonemia, elevated liver enzymes, metabolic acidosis
  • Jaundice and Liver Dysfunction
    • Usually due to erythrocyte metabolism or liver dysfunction
    • Presentation may also include vomiting, diarrhea, poor weight gain
    • Hypoglycemia may also be a presenting feature
  • Abnormal Odor
    • Often due to isovaleric acidemia (sweaty feet smell), glutaric acidemia (sweaty feet smell) or maple syrup urine disease (maple syrup or burnt sugar smell)
  • Dysmorphic features
    • Associated with Zellweger syndrome, neonatal adrenal leukodystrophy, and other problems
    • Dysmorphic features may be isolated
  • Storage Diseases
    • Usually present in later infancy or childhood
    • Presentation may include organomegaly, coarse facial features, skeletal abnormalities

Initial laboratory tests to investigate for possible IEM generally includes:

  • Complete blood count for neutropenia, thrombocytopenia and anemia, and possible sepsis
  • Blood gas, electrolytes, bicarbonate – for electrolyte imbalance and evaluation for metabolic acidosis
  • Blood urea nitrogen and creatinine – evaluate renal function
  • Bilirubin (direct and indirect) – direct hyperbilirubinemia is more likely to be associated with an IEM
  • Transaminases – evaluate hepatic function, hepatocyte destruction
  • Coagulation profile – evaluate hepatic synthetic function, and possible sepsis
  • Ammonia level, lactate and pyruvate – evaluate various IEMs
  • Glucose

Questions for Further Discussion
1. Where is the nearest center that can assist in managing a patient with an IEM?
2. What protocols are in place at my local hospital for evaluating an infant who presents with sudden death?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Streptococcal Infections and Throat Disorders.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

Burton, BK. Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis. Pediatrics. 1998;102;e69.

Weiner DL. Inborn Errors of Metabolism. eMedicine. Available from the Internet at http://emedicine.medscape.com/article/804757-overview (rev.3/30/09, cited 8/24/09).

ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Systems Based Practice
    25. Quality patient care and assisting patients in dealing with system complexities is advocated.
    26. Partnering with health care managers and health care providers to assess, coordinate, and improve health care and how these activities can affect system performance are known.

    Author
    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital

  • What Are The Options for Treating Excessive Salivation?

    Patient Presentation
    A 6-year-old female came to clinic for her health supervision visit. She had cerebral palsy and mild mental retardation but was making good progress with appropriate interventions. She continued to have significant drooling that was interfering with her social relationships with peers. Although peers liked her and included her, they did not want to work in small groups or eat lunch next to her because of the drooling. Glycopyrrolate had been tried without success. She was otherwise doing well in school and was able to participate in modified gross motor games and gym activities. The past medical history was signficant for heel cord lengthening and general anesthesia for dental restorations. The pertinent physical exam showed her growth parameters to be in the 10-75%. She was conversant and used ankle-foot orthoses and a walker because of an unsteady gait. HEENT showed excessive salivation and some plaque on her teeth. She had spasticity of all 4 extremities with lower extremities more affected than upper. Her heel cords were tight, but she easily used her orthoses.

    The diagnosis of cerebral palsy, mild mental retardation, and excessive salivation causing social impairment was made. The pediatrician told the mother that he knew there were other options but wasn’t sure about all of them. He said that he would investigate and then follow-up. Over the next week, he contacted a developmental pediatrician, a neurologist and did an Internet PubMed search. He sent the parents a letter with the various options he had found. They chose to try cyproheptadine every evening. The patient’s clinical course at one month followup showed the cyproheptadine had improved the drooling significantly and was not causing any side effects.

    Discussion
    Drooling, excessive salivation, hypersalivation, or sialorrhea can be a big problem for children. It can cause wet clothing necessitating bibs or multiple changes of clothing. It can cause dermatitis of the face, neck and chest, with possible skin breakdown and/or possible secondary infection. Sialorrhea can also potentiate the spread of common infections to others though direct or indirect contact with the saliva. It can also cause impaired social interaction as noted above. Therefore it is a problem that should be taken seriously and treated as necessary.

    Sialorrhea is generally considered abnormal if it occurs during the day after the age of 3-4 years. Most people affected have some other neurological problem including cerebral palsy or in adult populations, patients with Parkinson’s disease. Sialorrhea varies minute to minute and day to day. Therefore it is hard to quantify the overall outcome, especially for research purposes.

    Learning Point
    There are several options for treatment:

    • Do nothing – If the drooling is relatively mild and can be effectively managed by the child and family easily, and the child is not distressed by the drooling and is not having social impairments, this can be a good option.
    • Behavioral modification, speech therapy, with or without intraoral appliances – effectively used to train the patient to improve the stability of the jaw and lip closure. Trained personnel are needed for this option.
    • Medication
      • Anticholinergic agents – these are the most common medication used. Different forms of the medications are available in different countries and therefore there are differences in their utilization. Side effects can include constipation, urinary retention, sleepiness, irritability, and flushing, and generally are expected and reversible.
        • Glycopyrrolate – often used as a first agent with variable results but improvement in 70-90% of patients is reported. However because of side effects, about 30% of patients will choose to discontinue because of side-effects.
        • Scopolamine – also a common agent. Often has more severe side effects than glycopyrrolate.
        • Benztropine – also a common agent.
        • Cyproheptadine – less often used than other anticholinergics for sialorrhea, but often used in children for migraines or appetite enhancement.
      • Anti-reflux agents – as reflux causes excessive salivation, if the reflux is treated then the salivation will decrease. May or not be effective.
      • Trihexyphenidyl – antispasmotic agent used with Parkinson’s patients that also may decrease salivation
    • Botulinum toxin injection – Has been used in children (but mainly with adults) with maximum effect 2-8 weeks after injection. It can have side effects and must be repeated at intervals.
    • Surgery – The specific surgeries vary but often include transection of some innervation to the salivary glands. It can be very effective. However it does require surgery and excessive salivation may still occur and there may be side effects such as facial nerve palsy. The surgeries are generally infrequently performed, so it may be difficult to find an experienced, willing surgeon to perform the operation.

    With successful treatment of sialorrhea, the decrease in saliva can pose an increase risk of dental disease. Patient need to have appropriate dental care and utilize fluoride toothpaste to maintain good oral health.

    Questions for Further Discussion
    1. What health care professionals are available locally to help you manage sialorrhea?
    2. What is the definition of cerebral palsy and what are common causes?
    3. What are common problems associated with cerebral palsy?

    Related Cases

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for this topic: Mouth Disorders

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    Nunn JH. Drooling: review of the literature and proposals for management. J Oral Rehabil. 2000 Sep;27(9):735-43.

    Blasco PA. Management of drooling: 10 years after the Consortium on Drooling, 1990. Dev Med Child Neurol. 2002 Nov;44(11):778-81.

    Tscheng DZ. Sialorrhea – therapeutic drug options. Ann Pharmacother. 2002 Nov;36(11):1785-90.

    Jongerius PH, van Tiel P, van Limbeek J, Gabreels FJ, Rotteveel JJ. A systematic review for evidence of efficacy of anticholinergic drugs to treat drooling. Arch Dis Child. 2003 Oct;88(10):911-4.

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    6. Information technology to support patient care decisions and patient education is used.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    12. Evidence from scientific studies related to the patients’ health problems is located, appraised and assimilated.
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.
    14. Knowledge of study designs and statistical methods to appraisal clinical studies and other information on diagnostic and therapeutic effectiveness is applied.
    15. Information technology to manage information, access on-line medical information and support the healthcare professional’s own education is used.

  • Interpersonal and Communication Skills
    17. A therapeutic and ethically sound relationship with patients is created and sustained.

    22. Sensitivity and responsiveness to patients’ culture, age, gender, and disabilities are demonstrated.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital

  • How Do I Calculate Mid-Parental Height and Other Growth Parameters?

    Patient Presentation
    A 5-year-old male came to clinic for his health supervision visit. His father was concerned because he seemed “short” to him and wanted to know how tall he would be when he grew up. Otherwise there were no concerns. His father was 5 foot 9 inches and his mother was 5 foot 3 inches tall. His father said that both parents went through puberty “at the normal times.” The boys’ growth chart showed him to be growing at the 10-25% for height and 50% for weight. The family history showed diabetes and stroke.

    The pertinent physical exam showed a happy boy with a weight of 18 kg (50th %) and height of 106 cm (25%) and a BMI of 16 (50%). He was Tanner stage 1 and had a normal examination. The diagnosis of a healthy normally growing boy was made. The resident seeing him knew there was a calculation for evaluating mid-parental height but didn’t know what it was. When she talked with the attending physician they reviewed the calculation and determined that his midparental height would be [paternal height of 69 inches + (maternal height of 63 inches + 5 inches or 68 inches )] / 2 or 68.5 inches. This calculated height also appeared to be consistent with his previous and current growth pattern and was communicated to the family.

    Discussion
    Parents and pediatric healthcare providers are very concerned with children’s growth as it is such an important marker of their health status. Healthcare providers know, but parents often need to be educated, that it is not the exact measurements but the change in height, weight or head circumference that is the most important determinant. Therefore knowing some basic growth parameters and their changes over time are extremely important for analyzing children’s growth patterns. Children that appear to not be following these general patterns may do so for many reasons such as prematurity, chronic illness, or genetic constitution. But children who are not following these general patterns need to be at a minimum monitored closely and an appropriate evaluation begun if they appear to continue to be deviating from the normal patterns or if the deviation is increasing.

    Learning Point
    Averages at Birth
    Weight = 3.5 kg (7.7 pounds)
    Head circumference = 35 cm (14 inches)
    Length = 50 cm (20 inches)

    Weight
    Infant weight gain averages 30 grams/day for the first 3 months, then decreases to 10-20 grams/day for the first year
    Infants double their birth weight by 6 months and triple by 12 month of age
    Estimated Weight: [2 x(age in years)] + 10 = weight in kg
    General averages of weight at:

      1 year = 10 kg (22 pounds)
      5 years = 20 kg (44 pounds)
      10 years = 30 kg (66 pounds)
      11-12 years = 36 kg (80 pounds to be able to move out of a car booster seat)

    Underweight
    Age ❤ years = weight for length is <3rd percentile for age
    Or
    Age >2 years = BMI for age is <5th percentile for age

    Overweight
    Age 95th percentile for age
    Or
    Age >2 years = BMI for age is >95th percentile for age or BMI is >30 kg/m2

    Height
    General averages of height increase are:

      0-1 year = 10 inches/year (25 cm/year)
      1-2 years = 5 inches/year (12.5 cm/year)
      2 year-puberty = 2.5 inches/year (6.25 cm/year)

    Calculation of Mid-Parental Height
    This calculation corrects for the opposite gender parents height so that a mid-parental height can be calculated and evaluated on the appropriate gender growth chart
    For boys: [paternal height + (maternal height + 5 inches or 13 centimeters)] / 2
    For girls: [maternal height + (paternal height – 5 inches or 13 centimeters)] / 2

    Head Circumference
    General averages for head circumference increase are:

      0-3 months = 2 cm/month (average 3 month old is 41 cm)
      0-1 year = 1 cm/month (average 1 year old is 47 cm)
      > 1 year = only another 8 cm total (average adult is 55 cm)

    Premature Infants
    When evaluating growth in premature children, they should have prematurity corrected for until 2.5 years of age chronologically.
    Some children may “catch-up” before this depending on many factors.

    Questions for Further Discussion
    1. How much weight and height should a normal school age child gain in a year?
    2. At 2 years old, how can you tell what the high school graduation cap size will be?
    3. What are the indications for an endocrinology evaluation for a child with abnormal growth patterns?
    4. Explain the differences between constitutional growth delay and familial short stature?
    5. Where can I find normal growth parameters for common genetic syndromes or non-U.S. populations?

    Related Cases

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for these topics: Child Development and Growth Disorders.

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    Bacon GE, Spencer ML, Hopwood NJ, Kelch RP. A Practical Approach to Pediatric Endocrinology. Year Book Medical Publisher, Chicago, IL. 1990;62-96.

    Grover G. Nutritional Needs in Pediatrics a Primary Care Approach, Berkowitz CD, ed. W.B. Saunders Co., Philadelphia, PA. 1996;35-36.

    Custer JW, Rau RE. The Harriet Lane Handbook. 18th. Edit. Elsevier/Mosby Publications: Philadelphia, PA. 2009:285, 561-576.

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    5. Patients and their families are counseled and educated.
    8. Health care services aimed at preventing health problems or maintaining health are provided.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.
    15. Information technology to manage information, access on-line medical information and support the healthcare professional’s own education is used.
    16. Learning of students and other health care professionals is facilitated.

    Author
    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital

  • If I Had To, How Would I Use Anti-Venom?

    Patient Presentation
    A 7-year-old male was playing with a large box that had been in the yard undisturbed for several days.
    He was kicking and moving the box when he noticed a small snake at the opening. He ran away and called his parents.
    His father, using gloves, moved the box to the edge of the yard and when the box tipped over several small snakes and a large snake with a copper-colored body and triangular shaped head emerged and slithered into a marshy area nearby.
    The father who was a general pediatrician realized that he and his son had been very lucky in not being bitten, probably by a copperhead. Later he realized that he did not know how to use snake anti-venom and decided to do a PUBMED and general Internet search. He found several references to answer his question.

    Discussion
    In the United States there were 3264 snake bites reported to the American Association of Poison Control Centers in 2007.
    Bites and envenomations were the 13th most common substances involved in human exposures as reported by the same group.
    There are basically two types of venomous snakes in the U.S.:

    • Family – Crotalidae
      • Pit Vipers – copperheads, rattlesnake, cottonmouth, sidewinder
      • About 98-99% of all envenomations
      • Occur more in warmer months but can occur at any time
      • Bite reactions:
        • Extensive local reaction with severe pain and extensive regional swelling that can occur in as little as 10-30 minutes.
        • Coagulation disorders may follow such as epistaxis, purpura, hemolysis or disseminated intravascular coagulation occurring in 30 minutes-48 hours.
        • Shock can also be seen at the same time as the coagulation disorders.
        • Necrosis occurs after 6 hours and needs appropriate wound care.
    • Family Elapidae
      • Coral snakes
      • Along with imported venomous snakes = ~1-2% of all envenomations
      • Bite reactions:
        • Neurological syndromes move the patient toward respiratory paralysis and coma are seen.
        • Hypotension, myosis, hypersalivation, increased sweating, dysphagia and dyspnea can be seen along with paraesthesia and paresia. This can occur in the first 10-30 minutes.
        • Later, 30 minutes-5 hours, patients will have ptosis, trismus, respiratory paralysis and shock.

    Learning Point
    About 20-50% of snake bites have no envenomation. If an envenomation occurs, the severity depends on many factors, especially snake factors such as the quantity of venom injected. The bite site is important (head and neck are more dangerous), as are the size and weight of the individual with children being more seriously affected. Fang marks may not be seen, or there may be fang marks, scratch marks, vesicles or hemorrhagic blebs seen. Measuring the distance between the fang marks can give a general idea of the size of the snake.

    Initial treatment is rest, immobilization with the affected part below the heart and transportation to a hospital. If no envenomation appears to have occurred then patients are usually watched for 6-12 hours. Laboratory testing especially for respiratory status (blood gas) and coagulations disorders is necessary and needs to be re-evaluated at regular intervals. Anti-venom is the treatment for snake bites where envenomation has occurred. There are two types of antivenom: horse-derived and ovine-derived. Horse antivenom can cause allergic reactions including anaphylaxis. Ovine-derived appears to have fewer side effects. One study of ovine antivenom used for rattlesnake evenomations in children showed it was safe and seemed to be effective. Anti-venom is NOT give on a weight basis but is given on a vial basis. Children may require more anti-venom than a similar bite in an adult. Poison control experts can provide guidance for health care providers treating evenomations. Poison control centers are available nationally by calling toll free at 1-800-222-1222.

    Questions for Further Discussion
    1. How do you treat scorpion bites?
    2. What spiders are commonly poisonous and how are they treated?

    Related Cases

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for this topic: Animal Bites

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    Medicine Sans Frontieres. Snake Bites. Clinical Guidelines Diagnosis and Treatment Manual. 2007:272-274.

    Bronstein, AC, Spyker, DA, Cantilena JR, LR, Green, JL, Rumack, BH. and Heard, SE.2007 Annual Report of the American Association of Poison Control Centers’ National Poison Data System (NPDS): 25th
    Annual Report,Clinical Toxicology, 2008;46:10,927 — 1057.

    ACGME Competencies Highlighted by Case

  • Patient Care
    6. Information technology to support patient care decisions and patient education is used.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.

  • Practice Based Learning and Improvement
    12. Evidence from scientific studies related to the patients’ health problems is located, appraised and assimilated.
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.
    15. Information technology to manage information, access on-line medical information and support the healthcare professional’s own education is used.

  • Interpersonal and Communication Skills
    17. A therapeutic and ethically sound relationship with patients is created and sustained.
    18. Using effective nonverbal, explanatory, questioning, and writing skills, the healthcare professional uses effective listening skills and elicits and provides information.
    19. The health professional works effectively with others as a member or leader of a health care team or other professional group.

    Author
    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital