Podcast
Questions and Answers
Which of the following is a core disorder with a deficiency in acyl-CoA?
Which of the following is a core disorder with a deficiency in acyl-CoA?
What is the purpose of the Automated Auditory Brainstem Response (AABR) test?
What is the purpose of the Automated Auditory Brainstem Response (AABR) test?
Which of the following carriers has the highest detection rate mentioned in the content?
Which of the following carriers has the highest detection rate mentioned in the content?
Which format should be used to describe the history of present illness during a visit?
Which format should be used to describe the history of present illness during a visit?
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For which congenital condition is carrier status indicated, according to the content provided?
For which congenital condition is carrier status indicated, according to the content provided?
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What is one of the key identifying data points collected during an infancy visit?
What is one of the key identifying data points collected during an infancy visit?
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What does the O in OPQRST stand for in the context of the history of present illness?
What does the O in OPQRST stand for in the context of the history of present illness?
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How long does each hearing screening test typically take?
How long does each hearing screening test typically take?
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At what age does a child typically start to coo responsively?
At what age does a child typically start to coo responsively?
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Which aspect of development does the Denver Developmental Screening Test II primarily assess?
Which aspect of development does the Denver Developmental Screening Test II primarily assess?
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What is a key factor to inquire about during social history in a pediatric evaluation?
What is a key factor to inquire about during social history in a pediatric evaluation?
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Which component is NOT typically included in a comprehensive family history assessment?
Which component is NOT typically included in a comprehensive family history assessment?
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When assessing the home environment, what type of information is relevant?
When assessing the home environment, what type of information is relevant?
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What is a critical aspect of parent-child interaction to observe during assessments?
What is a critical aspect of parent-child interaction to observe during assessments?
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What should be included in a thorough immunization history inquiry?
What should be included in a thorough immunization history inquiry?
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What is important to assess regarding the setting of the child's home?
What is important to assess regarding the setting of the child's home?
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Which drug is associated with the risk of facial and ear anomalies as well as congenital heart disease?
Which drug is associated with the risk of facial and ear anomalies as well as congenital heart disease?
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What is a potential consequence of maternal alcohol use during pregnancy?
What is a potential consequence of maternal alcohol use during pregnancy?
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What effect does smoking during pregnancy have on neonatal outcomes?
What effect does smoking during pregnancy have on neonatal outcomes?
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Which teratogenic drug is associated with spina bifida?
Which teratogenic drug is associated with spina bifida?
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What defines advanced maternal age in the context of pregnancy?
What defines advanced maternal age in the context of pregnancy?
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Which medication is a known folic acid antagonist that can lead to neural tube defects?
Which medication is a known folic acid antagonist that can lead to neural tube defects?
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Accidental exposure to which substance during pregnancy can lead to fetal alcohol-like syndrome and preterm labor?
Accidental exposure to which substance during pregnancy can lead to fetal alcohol-like syndrome and preterm labor?
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What is a potential effect of using tetracycline during pregnancy?
What is a potential effect of using tetracycline during pregnancy?
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What is the significance of interval history in pediatric assessments?
What is the significance of interval history in pediatric assessments?
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Which of the following symptoms falls under the respiratory review of systems for infants?
Which of the following symptoms falls under the respiratory review of systems for infants?
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Which anticipatory guidance area involves ensuring children sleep safely?
Which anticipatory guidance area involves ensuring children sleep safely?
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What should be the approach of a healthcare professional towards parental concerns?
What should be the approach of a healthcare professional towards parental concerns?
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Which of the following is NOT a priority area of anticipatory guidance in the neonatal period?
Which of the following is NOT a priority area of anticipatory guidance in the neonatal period?
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In the infant review of systems, which symptom would suggest a hematologic concern?
In the infant review of systems, which symptom would suggest a hematologic concern?
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What aspect does anticipatory guidance primarily aim to facilitate?
What aspect does anticipatory guidance primarily aim to facilitate?
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What should be included in a comprehensive review of systems for infants?
What should be included in a comprehensive review of systems for infants?
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What is the most significant risk factor associated with maternal diabetes during pregnancy?
What is the most significant risk factor associated with maternal diabetes during pregnancy?
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Which maternal condition can lead to neonatal sepsis?
Which maternal condition can lead to neonatal sepsis?
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What potential complication can arise from systemic lupus erythematosus in a pregnant mother?
What potential complication can arise from systemic lupus erythematosus in a pregnant mother?
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What condition is associated with maternal hyperparathyroidism during pregnancy?
What condition is associated with maternal hyperparathyroidism during pregnancy?
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What is an indicator of fetal distress observed during labor?
What is an indicator of fetal distress observed during labor?
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Which of the following is NOT typically evaluated in a neonatal history assessment?
Which of the following is NOT typically evaluated in a neonatal history assessment?
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What is a result of RH or other blood group sensitization in neonates?
What is a result of RH or other blood group sensitization in neonates?
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What aspect of developmental history is critical to assess?
What aspect of developmental history is critical to assess?
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What is the primary purpose of the newborn heel stick screening?
What is the primary purpose of the newborn heel stick screening?
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Which condition is not typically included in the mandatory newborn screening tested in Virginia?
Which condition is not typically included in the mandatory newborn screening tested in Virginia?
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What is required for performing the heel stick screening on an infant?
What is required for performing the heel stick screening on an infant?
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What was a significant statistic regarding neonatal screening reported in July 2021?
What was a significant statistic regarding neonatal screening reported in July 2021?
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What is the role of the Virginia Department of Health's newborn screening staff?
What is the role of the Virginia Department of Health's newborn screening staff?
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What is one of the two tests used to screen for hearing in infants?
What is one of the two tests used to screen for hearing in infants?
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In which area of assessment is the OPQRST format specifically utilized?
In which area of assessment is the OPQRST format specifically utilized?
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Which of the following core disorders is associated with enzyme deficiency?
Which of the following core disorders is associated with enzyme deficiency?
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What is a significant characteristic of the AABR hearing screening test?
What is a significant characteristic of the AABR hearing screening test?
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Which carrier status has the highest number mentioned in the content?
Which carrier status has the highest number mentioned in the content?
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Which of the following represents a secondary disorder that can be detected in the differential diagnosis of a core condition?
Which of the following represents a secondary disorder that can be detected in the differential diagnosis of a core condition?
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What is the primary focus of the Bright Futures tables for infancy visits?
What is the primary focus of the Bright Futures tables for infancy visits?
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At what age should a child typically start tracking objects past midline?
At what age should a child typically start tracking objects past midline?
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Which primary congenital disorder is characterized by a deficiency in hormone production?
Which primary congenital disorder is characterized by a deficiency in hormone production?
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Which of the following factors is NOT commonly assessed in a child's immunization history?
Which of the following factors is NOT commonly assessed in a child's immunization history?
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What should be a critical focus when gathering information about family history?
What should be a critical focus when gathering information about family history?
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During a social history assessment, which of the following is least likely to be relevant?
During a social history assessment, which of the following is least likely to be relevant?
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What is an appropriate action if a child is described as living in a home with smokers?
What is an appropriate action if a child is described as living in a home with smokers?
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Which developmental milestone is typically observed at 2 weeks of age?
Which developmental milestone is typically observed at 2 weeks of age?
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In the context of parent-child interaction, which behavior is least indicative of a healthy response to a child's needs?
In the context of parent-child interaction, which behavior is least indicative of a healthy response to a child's needs?
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When assessing a child's household situation, which aspect is most critical?
When assessing a child's household situation, which aspect is most critical?
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What is a potential effect of maternal hyperthyroidism on pregnancy outcomes?
What is a potential effect of maternal hyperthyroidism on pregnancy outcomes?
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Which complication is associated with maternal diabetes during pregnancy?
Which complication is associated with maternal diabetes during pregnancy?
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Which of the following maternal conditions is known to cause congenital heart block in newborns?
Which of the following maternal conditions is known to cause congenital heart block in newborns?
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What is a common neonatal complication associated with maternal infections during pregnancy?
What is a common neonatal complication associated with maternal infections during pregnancy?
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What effect does maternal hypertension have on pregnancy outcomes?
What effect does maternal hypertension have on pregnancy outcomes?
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What is a potential outcome of RH or other blood group sensitization in neonates?
What is a potential outcome of RH or other blood group sensitization in neonates?
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What is a significant risk associated with maternal infections like HIV and Hepatitis during pregnancy?
What is a significant risk associated with maternal infections like HIV and Hepatitis during pregnancy?
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What potential issue can arise from hyperparathyroidism in a pregnant woman?
What potential issue can arise from hyperparathyroidism in a pregnant woman?
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Why is it necessary to obtain interval history in pediatric assessments?
Why is it necessary to obtain interval history in pediatric assessments?
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Which aspect is NOT included under the developmental review in the infant assessment?
Which aspect is NOT included under the developmental review in the infant assessment?
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What is the primary goal of anticipatory guidance provided to parents?
What is the primary goal of anticipatory guidance provided to parents?
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Which factor is MOST important to address when discussing sleep position with parents of infants?
Which factor is MOST important to address when discussing sleep position with parents of infants?
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What should healthcare providers avoid when engaging with parents about their child's health?
What should healthcare providers avoid when engaging with parents about their child's health?
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Which area of anticipatory guidance is focused specifically on preventing child-related injuries?
Which area of anticipatory guidance is focused specifically on preventing child-related injuries?
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What is a key consideration regarding documentation in pediatric assessments?
What is a key consideration regarding documentation in pediatric assessments?
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Which statement best characterizes the concept of 'Bright Futures'?
Which statement best characterizes the concept of 'Bright Futures'?
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What must occur if an infant receives a blood transfusion after the initial heel stick screening?
What must occur if an infant receives a blood transfusion after the initial heel stick screening?
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What is the legal requirement regarding newborn screening in Virginia?
What is the legal requirement regarding newborn screening in Virginia?
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How many metabolic and hereditary disorders are screened for in Virginia's newborn program?
How many metabolic and hereditary disorders are screened for in Virginia's newborn program?
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When should the heel stick screening ideally be performed on a newborn?
When should the heel stick screening ideally be performed on a newborn?
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What is the primary follow-up action for the Virginia Department of Health after identifying abnormal test results?
What is the primary follow-up action for the Virginia Department of Health after identifying abnormal test results?
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What is the recommended evaluation for maternal health regarding age when considering pregnancy risks?
What is the recommended evaluation for maternal health regarding age when considering pregnancy risks?
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Which teratogenic drug is known to cause microcephaly and congenital heart disease?
Which teratogenic drug is known to cause microcephaly and congenital heart disease?
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Which maternal factor is associated with reduced weight and increased risk of sudden infant death syndrome (SIDS)?
Which maternal factor is associated with reduced weight and increased risk of sudden infant death syndrome (SIDS)?
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What complication can result from exposure to radioactive iodine during pregnancy?
What complication can result from exposure to radioactive iodine during pregnancy?
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Which of the following medication categories is a known folic acid antagonist linked to neural tube defects?
Which of the following medication categories is a known folic acid antagonist linked to neural tube defects?
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What is one significant consequence of exposure to Tetracycline during pregnancy?
What is one significant consequence of exposure to Tetracycline during pregnancy?
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Which maternal risk factor can lead to growth retardation and developmental issues in the neonate?
Which maternal risk factor can lead to growth retardation and developmental issues in the neonate?
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What potential risk does the use of Lithium during pregnancy pose to the fetus?
What potential risk does the use of Lithium during pregnancy pose to the fetus?
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At what age can a child typically begin to track an object past the midline?
At what age can a child typically begin to track an object past the midline?
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Which aspect of social history is essential to understand family risk factors for pediatric patients?
Which aspect of social history is essential to understand family risk factors for pediatric patients?
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What is an important factor to consider while taking family history related to mental health?
What is an important factor to consider while taking family history related to mental health?
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Which criterion is NOT typically assessed when evaluating the home environment of a child?
Which criterion is NOT typically assessed when evaluating the home environment of a child?
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Which of the following correctly describes a developmental milestone for a 2-week-old infant?
Which of the following correctly describes a developmental milestone for a 2-week-old infant?
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What is a critical element to include when documenting immunization history for a pediatric visit?
What is a critical element to include when documenting immunization history for a pediatric visit?
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Which of the following is NOT relevant when assessing risk factors for a child during a social history inquiry?
Which of the following is NOT relevant when assessing risk factors for a child during a social history inquiry?
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Which method of communication is indicated as essential between parents and children during assessments?
Which method of communication is indicated as essential between parents and children during assessments?
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What is the primary reason for conducting an interval history in pediatric assessments?
What is the primary reason for conducting an interval history in pediatric assessments?
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Which symptom would indicate a concern in the gastrointestinal review of systems for infants?
Which symptom would indicate a concern in the gastrointestinal review of systems for infants?
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In the context of anticipatory guidance, which area focuses on ensuring safe sleep for infants?
In the context of anticipatory guidance, which area focuses on ensuring safe sleep for infants?
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Which of the following practices should a healthcare provider NOT employ when addressing parental concerns?
Which of the following practices should a healthcare provider NOT employ when addressing parental concerns?
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What is a suitable approach in responding to parental issues during an infant assessment?
What is a suitable approach in responding to parental issues during an infant assessment?
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What component is NOT typically included in the review of systems for an infant?
What component is NOT typically included in the review of systems for an infant?
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What is the main focus of the Bright Futures initiative in pediatric care?
What is the main focus of the Bright Futures initiative in pediatric care?
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Which aspect of history taking can significantly contribute to forming a diagnosis in pediatric evaluations?
Which aspect of history taking can significantly contribute to forming a diagnosis in pediatric evaluations?
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What effect can maternal diabetes have on the infant?
What effect can maternal diabetes have on the infant?
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Which condition is associated with maternal hyperparathyroidism?
Which condition is associated with maternal hyperparathyroidism?
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What complication is specifically noted as a potential outcome of systemic lupus erythematosus during pregnancy?
What complication is specifically noted as a potential outcome of systemic lupus erythematosus during pregnancy?
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What is a significant risk associated with maternal hyperthyroidism during pregnancy?
What is a significant risk associated with maternal hyperthyroidism during pregnancy?
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Which of the following maternal conditions can cause fetal anemia?
Which of the following maternal conditions can cause fetal anemia?
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What maternal condition is associated with an increased risk of neonatal sepsis?
What maternal condition is associated with an increased risk of neonatal sepsis?
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What is an expected outcome for infants born to mothers with untreated hyperthyroidism?
What is an expected outcome for infants born to mothers with untreated hyperthyroidism?
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What potential consequence does maternal hypertension pose during pregnancy?
What potential consequence does maternal hypertension pose during pregnancy?
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Which developmental milestone is typically observed at 2 months regarding fine motor skills?
Which developmental milestone is typically observed at 2 months regarding fine motor skills?
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What is included in the Denver Developmental Screening Test II?
What is included in the Denver Developmental Screening Test II?
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Which factor is relevant to inquire about when assessing a child's social history?
Which factor is relevant to inquire about when assessing a child's social history?
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Which aspect of family history should not be overlooked during assessments?
Which aspect of family history should not be overlooked during assessments?
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What should be included in a comprehensive immunization history?
What should be included in a comprehensive immunization history?
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Which information is considered least relevant when discussing the child's home environment?
Which information is considered least relevant when discussing the child's home environment?
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What is a key indicator of a child's personal-social development at 2 months?
What is a key indicator of a child's personal-social development at 2 months?
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In assessing parent-child interaction, which factor is most critical?
In assessing parent-child interaction, which factor is most critical?
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Which disorder is a core disorder with a higher severity indicator based on the number indicated?
Which disorder is a core disorder with a higher severity indicator based on the number indicated?
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Which hearing screening method directly measures the response to sound produced in the inner ear?
Which hearing screening method directly measures the response to sound produced in the inner ear?
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What is the primary component utilized in describing the quality of pain during a patient visit?
What is the primary component utilized in describing the quality of pain during a patient visit?
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Which carrier status indicates a potential genetic link to hemoglobin disorders?
Which carrier status indicates a potential genetic link to hemoglobin disorders?
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How are the Automated Auditory Brainstem Response and Otoacoustic Emissions testing methods characterized in terms of time and discomfort?
How are the Automated Auditory Brainstem Response and Otoacoustic Emissions testing methods characterized in terms of time and discomfort?
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Which of the following genetic disorders is characterized by a medium-chain acyl-CoA enzyme deficiency?
Which of the following genetic disorders is characterized by a medium-chain acyl-CoA enzyme deficiency?
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In the context of carrier screening, which condition is least represented based on its carrier detection number?
In the context of carrier screening, which condition is least represented based on its carrier detection number?
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Which aspect of congenital screening is most emphasized for systematic assessment?
Which aspect of congenital screening is most emphasized for systematic assessment?
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What is a requirement for the newborn heel stick screening mandated by Virginia law?
What is a requirement for the newborn heel stick screening mandated by Virginia law?
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Why is interval history especially necessary during pediatric assessments?
Why is interval history especially necessary during pediatric assessments?
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How many metabolic and hereditary disorders did DCLS screen for in July 2021?
How many metabolic and hereditary disorders did DCLS screen for in July 2021?
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What action must be taken if a newborn receives antibiotics before the heel stick screening?
What action must be taken if a newborn receives antibiotics before the heel stick screening?
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Which component is NOT part of the infant review of systems?
Which component is NOT part of the infant review of systems?
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What is the typical outcome of the newborn screening in Virginia regarding positive results?
What is the typical outcome of the newborn screening in Virginia regarding positive results?
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What approach should healthcare professionals take when addressing parental concerns?
What approach should healthcare professionals take when addressing parental concerns?
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What is the maximum age up to which tests can be repeated if necessary?
What is the maximum age up to which tests can be repeated if necessary?
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What area does the anticipatory guidance framework NOT specifically target?
What area does the anticipatory guidance framework NOT specifically target?
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In which component of the comprehensive history is the most emphasis placed during a pediatric visit?
In which component of the comprehensive history is the most emphasis placed during a pediatric visit?
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Which of the following is a key principle of effective anticipatory guidance for infants?
Which of the following is a key principle of effective anticipatory guidance for infants?
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Which of these behaviors should be noted for potential flagging during the review of systems?
Which of these behaviors should be noted for potential flagging during the review of systems?
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What is one of the anticipated outcomes of effective anticipatory guidance?
What is one of the anticipated outcomes of effective anticipatory guidance?
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Which of the following maternal health factors is directly associated with an increased risk for reduced birth weight and SIDS?
Which of the following maternal health factors is directly associated with an increased risk for reduced birth weight and SIDS?
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What is a primary result of exposure to Isotretinoin during pregnancy?
What is a primary result of exposure to Isotretinoin during pregnancy?
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What defines advanced maternal age in the context of pregnancy?
What defines advanced maternal age in the context of pregnancy?
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Which of the following teratogenic drugs is associated with causing spina bifida?
Which of the following teratogenic drugs is associated with causing spina bifida?
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Which maternal factor is linked to the development of Ebstein anomaly in neonates?
Which maternal factor is linked to the development of Ebstein anomaly in neonates?
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Which of the following is a potential consequence of maternal alcohol consumption during pregnancy?
Which of the following is a potential consequence of maternal alcohol consumption during pregnancy?
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What impact does exposure to radioactive iodine during pregnancy have on the fetus?
What impact does exposure to radioactive iodine during pregnancy have on the fetus?
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Which of the following statements about teratogenic drugs is true regarding tetracycline?
Which of the following statements about teratogenic drugs is true regarding tetracycline?
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Study Notes
Core Disorders
- Biotinidase deficiency, partial (BIO partial)
- Congenital adrenal hyperplasia, salt-wasting (CAH (SW))
- Cystic fibrosis (CF)
- Hb C-disease (Hb F,C)
- Hb SC-disease (Hb F,S,C)
- Hb SS-disease (sickle cell anemia) (Hb F,S)
- Hypothyroidism, primary congenital (CH)
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Phenylketonuria (PKU)
- Pompe Disease, Probable Late Onset (Probable LOPD)
Secondary Disorders:
- Cystic fibrosis carrier (CF carrier)
- Galactosemia carrier (GALT carrier)
- Galactosemia, duarte (unspecified)
- Hb C beta-thalassemia (Hb F,C,A)
- Hb S (sickle)-carrier (Hb F,A,S)
- Mucopolysaccharidosis type I Carrier, (MPS-1 Carrier)
- Pompe Disease, Carrier
- Thyroid-binding globulin deficiency (TBG)
- Very long-chain acyl-CoA dehydrogenase deficiency carrier (VLCAD carrier)
Hearing Screening
-
Automated Auditory Brainstem Response (AABR)
- Measures how the vestibulocochlear nerve responds to sound
- Clicks or tones are played through earphones and electrodes placed on the baby's head to measure the response
-
Otoacoustic Emissions (OAE)
- Measures sound waves produced in the inner ear
- A probe placed just inside the ear canal measures the response when clicks or tones are played into the baby's ears
General Information to Include in Notes
- Date of Visit
- Name of Patient
- Birth date of patient
- Gender of patient
- Race of patient
- Informant (who is providing the information)
Chief Complaint
- Reason for visit, in the caregiver's words
- "Well visit" is acceptable.
History of Present Illness
- Events leading to visit in OPQRST or OLDCARTS format.
- O – Onset of event
- P – Provocation or Palliation
- Q – Quality of pain or other symptom
- R – Region or Radiation
- S - Severity
- T – Time (History)
- If a well visit - Review medical records including prior office notes, well visits, screening results, etc.
- Statement of overall health status
- Current/chronic medical illnesses with date of onset
- Hospitalizations with date and reason
- Surgeries with date, location, and provider
- Medications with dose, route, frequency, and indication
- Members of the care team
- Accidents, injuries, or poisonings
Prenatal History
- Maternal weight gain during pregnancy
- Maternal illnesses (chronic or acute)
- Maternal environmental exposure
- Maternal medications taken during pregnancy
- Maternal substance use
- Maternal nutrition
- Maternal social situation
Common Teratogenic Drugs
-
Alcohol
- Fetal alcohol Syndrome, microcephaly, congenital heart disease
-
Fluoxetine (SSRI)
- Minor malformations, low birth weight, poor neonatal adaptation
-
Folic Acid Antagonist (trimethoprim, triamterene, phenytoin, primidone, phenobarbital, carbamazepine)
- Neural tube, cardiovascular, renal, and oral cleft defects
-
Isotretinoin (Accutane) and Vitamin A
- Facial and ear anomalies, congenital heart disease
-
Lithium
- Ebstein anomaly
-
Phenytoin
- Hypoplastic nails, IUGR, atypical facies
-
Radioactive Iodine
- Fetal Hypothyroidism
-
Radiation
- Microcephaly
-
Stilbestrol (DES)
- Vaginal adenocarcinoma during adolescence
-
Streptomycin
- Deafness
-
Testosterone-like drugs
- Virilization of female
-
Tetracycline
- Enamel Hypoplasia
-
Thalidomide
- Phocomelia
-
Toluene (solvent abuse)
- Fetal alcohol – like syndrome, preterm labor
-
Valproate
- Spina Bifida
-
Vitamin D
- Supravalvular aortic stenosis
Maternal Risk Factors
-
Maternal Age
-
35 years old – Advanced Maternal Age
- 16 – 35 years old – Normal Maternal Age
- < 16 years old – Young Maternal Age
-
-
Maternal Health
- Smoking - Reduced weight & increased SIDS risk
- Alcohol - Negative effects on brain development, cyanotic heart disease, arrhythmias, CHF, prematurity
- Substance Abuse - Growth retardation, IUGR, NAS/neonatal withdrawal
- Trauma - Blunt, Penetrating?– Evaluate Everything
-
Maternal Health Conditions
-
Hypertension
- SGA, premature birth & placental abruption
-
Diabetes
- LGA infant, risk of hypoglycemia
-
Hypothyroidism
- Poor growth, jaundice
-
Hyperthyroidism
- Preterm delivery, SGA, birth defects if on Methimazole or tapazole or could have neonatal Grave’s disease
-
Hyperparathyroidism
- Hypocalcemia
-
Infection
- Neonatal Sepsis
-
Systemic Lupus Erythematous
- Congenital heart block, rash, anemia, thrombocytopenia, neutropenia, cardiomyopathy, stillbirth
-
HIV, Hepatitis B & C
- Infection risk
-
Rheumatic Fever
- Atrial fibrillation, CHF
-
RH or other blood group sensitization
- Fetal anemia, hypoalbuminemia, hydrops, neonatal jaundice
-
Hypertension
Birth History
- Length of pregnancy in weeks
- Maternal intrapartum events
- Hospital visits
- Illnesses
- Special care
- Neonatal intrapartum events
- Tachycardia
- Abnormal ultrasound exams
- Fetal decelerations during labor
Neonatal History
- APGAR scores
- Does the baby require resuscitation?
- Events in the newborn nursery:
- Adjustment to extrauterine life
- Feeding
- Other problems
- How old was the baby when you took them home?
- Problems during the first days of life:
- Hypoglycemia
- Respiratory distress
- Infection
- Jaundice
- Difficulty with temperature regulation
- Trouble with feeding, voiding, or stooling
- Others
- Results of Screening test (if not previously reviewed or if repeated)
- Old records may be helpful if complications were present
Feeding History
- Type of feeding (breast or bottle)
- Feeding problems (resolved or current)
- Weight problems; failure to gain weight
Developmental History
- Achievement of milestones - appropriate or delayed?
- Milestone regression?
- Family norms
Developmental Milestones
-
2 weeks
-
Gross Motor
- Moves head side to side
-
Fine Motor
- Regards face
-
Personal - Social
- Alerts to bell
-
Gross Motor
-
2 months
-
Gross Motor
- Lifts shoulder while prone
-
Fine Motor
- Tracks past midline
-
Personal - Social
- Smiles responsively
-
Language
- Cooing
- Searches for sound with eyes
-
Gross Motor
Immunization History
- Extremely important
- Missed doses?
- Any reactions?
Immunization Schedules
- Birth to 18 yrs immunization schedules including “catch-up” schedule
- Websites for resources include:
- https://www.cdc.gov/vaccines/schedules/hcp/imz/child-adolescent.html
- https://www.immunize.org/handouts/
Family History
- ALL systems and first-degree relatives
- Do not forget mental health disorders
- Ask about anything that may be pertinent for the current visit
Social History
- Family unit details
- How many in home?
- WHO is in the home?
- Parents married?
- Who cares for child?
- Family attitudes
- Risk factors for child
Social History Continued
- Type of residence (house, apartment, or mobile home)
- Location of home (town or country)
- Age of home
- Water source (city or well)
- Type of heating/cooling system
- Basement presence and dryness
- Pets or large animals in home
- Smoking in home or car
- Parental occupations
Parent/Child Interaction
- How does the parent respond to the child’s needs?
- Is there eye-contact?
- Is there communication with siblings?
- Do the parents communicate to each other/patient with sensitivity and respect?
- Does the parent handle and respond to the child in a developmentally appropriate way?
Interval History
- Necessary if long period (greater than 2 months for infants) between visits
- Very important if child has had serious illness, new diagnosis, or surgery
- Necessary if child has been in protective care
Infant Review of Systems:
-
General
- Birth weight, weight changes, feeding frequency, fevers, lack of crying, incessant crying
-
Derm
- Rashes, discolorations
-
Hem/Onc
- Easy bruising, bleeding
-
Eye
- Strabismus, oscillations/nystagmus, blindness
-
Ear
- Hearing abnormalities, ear discharge
-
Nose/Mouth
- Loud breathing/snoring, nasal congestion/discharge
-
Cardiac
- Cyanosis
-
Respiratory
- Wheezing, stridor, cough
-
Gastrointestinal
- Vomiting (projectile vs.non-projectile), jaundice, feeding issues, colic, stool frequency, color and character
-
Urinary
- Frequency, hematuria
-
Musculoskeletal
- Joint abnormalities
-
Developmental
- Milestones
-
Behavior
- Attachment issues, attention issues
- Sleeping position, environment (use of blankets, pillows, etc.)
Take Home Points for Recording Patient History
- First, let parents express concerns
- Ask open-ended questions
- Be objective and non-judgmental
- Express your interest in the patient AND the informant
- Ensure records are readable (correct spelling and grammar)
- The history may make the diagnosis
Anticipatory Guidance
- Bright Futures - AAP project to standardize and improve issues in anticipatory guidance for pediatricians and other health care providers.
-
5 Main Areas in Neonatal/Infant Period
- Injury Prevention
- Violence Prevention
- Sleep Position
- Nutritional Counseling
- Fostering Optimal Development
Anticipatory Guidance Topics by Age:
-
Birth
-
Injury Prevention
- Crib safety
- Hot water heaters
-
Violence Prevention
- Assess bonding
-
Sleep Position
- Back to sleep
- Crib Safety
-
Nutritional Counseling
- Exclusive breast feeding
-
Fostering Optimal Development
- Discuss parenting skills
- Refer for support if needed
-
Injury Prevention
Newborn Heel Stick Screening
- A mandated screening test for genetic and metabolic disorders in all babies, performed after 24 hours of life and repeated if a baby receives antibiotics or a transfusion.
- Virginia mandated the test in 1966.
- The Virginia Department of Health follows up on abnormal test results for more than 20,000 babies each year.
- Screenings can be repeated on infants up to 6 months of age.
- The test involves taking a blood sample from the heel.
- The blood is placed on specific circles on a paper card.
Newborn Heel Stick Screening in Virginia
- Virginia screens for over 30 disorders.
- In July 2021, the Division of Consolidated Laboratory Services (DCLS) screened 8,600 babies for 31 metabolic and hereditary disorders, confirming 431 diagnoses with a critical disorder or carrier status.
Core Disorders Screened for
- Biotinidase deficiency, partial (BIO partial)
- Congenital adrenal hyperplasia, salt-wasting (CAH (SW))
- Cystic fibrosis (CF)
- Hb C-disease (Hb F,C)
- Hb SC-disease (Hb F,S,C)
- Hb SS-disease (sickle cell anemia) (Hb F,S)
- Hypothyroidism, primary congenital (CH)
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Phenylketonuria (PKU)
- Pompe Disease, Probable Late Onset (Probable LOPD)
Secondary Disorders Screened for
- Cystic fibrosis carrier (CF carrier)
- Galactosemia carrier (GALT carrier)
- Galactosemia, duarte (unspecified)
- Hb C beta-thalassemia (Hb F,C,A)
- Hb S (sickle)-carrier (Hb F,A,S)
- Mucopolysaccharidosis type I Carrier, (MPS-1 Carrier)
- Pompe Disease, Carrier
- Thyroid-binding globulin deficiency (TBG)
- Very long-chain acyl-CoA dehydrogenase deficiency carrier (VLCAD carrier)
Hearing Screening
- Two tests are used: Automated Auditory Brainstem Response (AABR) and Otoacoustic Emissions (OAE).
- AABR measures how the vestibulocochlear nerve responds to sound.
- OAE measures sound waves produced in the inner ear.
- Both tests are quick (5 to 10 minutes) and painless.
Congenital Heart Disease Screening
- There is no specific screening test for congenital heart disease, but it is important to consider it during routine infant visits.
General Information to Collect During an Infant Visit
- Date of Visit
- Identifying data:
- Name
- Birth date
- Gender
- Race
- Informant
Chief Complaint
- Summarize what brings the patient in for the visit in the caregiver's own words.
- "Well visit" is acceptable.
History of Present Illness
- This includes detailed information about the events leading up to the visit, using OPQRST or OLDCARTS format (Onset, Provocation, Quality, Region, Severity, Time).
- Review previous medical records, screening results, etc.
Maternal Risk Factors
- A list is provided detailing the potential effects of maternal conditions such as hypertension, diabetes, hypothyroidism, hyperthyroidism, hyperparathyroidism, infections, systemic lupus erythematosus, HIV, hepatitis B & C, rheumatic fever, and RH or other blood group sensitization.
Birth History
- Length of pregnancy in weeks
- Maternal intrapartum events (e.g., hospital visits, illnesses, special care)
- Neonatal intrapartum events (e.g., tachycardia, abnormal ultrasounds, fetal decelerations)
Neonatal History
- APGAR scores
- Resuscitation needs
- Newborn nursery events (e.g., adjustment to extrauterine life, feeding, problems)
- Age of the baby when brought home
- Problems during the first few days of life (e.g., hypoglycemia, respiratory distress, infection, jaundice, temperature regulation difficulties, feeding/voiding/stool issues).
- Screening test results
Feeding History
- Type of feeding (e.g., breast or bottle)
- Feeding problems (e.g., resolved or current)
- Weight problems or failure to gain weight
Developmental History
- Achievement of developmental milestones (e.g., appropriate or delayed)
- Any milestone regression?
Developmental Milestones
A table detailing developmental milestones for a 2-week and 2-month old is provided.
Immunization History
- Review immunization doses given and any reactions.
Immunization Schedules
- Information is provided on current immunization schedules for infants up to 18 years old.
- Links to the CDC and Immunize.org websites are provided.
- There are apps available to assist with immunization schedules.
Family History
- Review family history of all systems and first-degree relatives, including mental health disorders.
- Also, consider family history of anything pertinent to the current visit.
Social History
- Details about the family unit, such as the number of people at home, family structure, who cares for the child, and family attitudes.
- Risk factors for the child, such as housing, water source, heating/cooling systems, pets, smoking, and parental employment.
Parent/Child Interaction
- Observations on how the parent responds to the child's needs, eye contact, communication with siblings, and overall parenting interactions.
Interval History
- Collect information essential for visits longer than 2 months for infants.
- This includes information on serious illnesses, new diagnoses, surgeries, or protective care.
Infant Review of Systems
- A comprehensive list of systems to review for infants, including general, dermatological, hematologic, eye, ear, nose/mouth, cardiac, respiratory, gastrointestinal, urinary, musculoskeletal, developmental, behavioral issues, and sleeping position.
Take Home Points
- Encourage parents to express concerns first.
- Ask open-ended questions.
- Be objective and non-judgmental.
- Show interest in both the patient and the informant.
- Ensure records are legible and well written.
- The history is crucial in determining the diagnosis.
Anticipatory Guidance
- It is essential to provide information and resources to parents to support healthy growth and development of their children.
- Bright Futures, a project by the American Academy Pediatrics (AAP), provides standardized anticipatory guidance for pediatricians and other health care providers.
- The 5 main areas in the neonatal/infant period are injury prevention, violence prevention, sleep position, nutritional counseling, and fostering optimal development.
Anticipatory Guidance Table
- A table provides specific anticipatory guidance topics for different age groups.
- Birth to 9 months: crib safety, hot water heaters, bonding/attachment, back to sleep, exclusive breastfeeding, parenting skills, and appropriate referrals.
Newborn Heel Stick Screening
- A screening test for genetic and metabolic disorders
- Mandated in all states, but the list of conditions screened for varies by state
- Required for all infants by law in Virginia, unless objected to on religious grounds
- Must be performed after 24 hours of life and repeated if the infant receives antibiotics or a transfusion
- The Virginia Department of Health follows up on abnormal test results for more than 20,000 infants each year
- Repeat tests can be performed on infants up to 6 months of age
- Procedure involves filling out a form, putting on gloves, cleaning the newborn's heel, sticking with a lancet, wiping the first drop of blood with gauze, and placing a drop of blood in each of five test circles
Virginia Screens for over 30 Disorders
- 98,000 babies screened annually for 30+ metabolic and hereditary disorders
- Over 600 babies are identified as having one or more disorders each year
Newborn History
- Gather information on the infant's overall health status, including any current or chronic medical illnesses, hospitalizations, surgeries, medications, and other members of the care team
- Note any accidents, injuries, or poisonings
Prenatal History
- Gather information on the mother's pregnancy, including weight gain, illnesses, environmental exposures, medications, substance use, nutrition, and social situation
Common Teratogenic Drugs
- Alcohol can result in fetal alcohol syndrome, microcephaly, and congenital heart disease
- Fluoxetine (SSRI) can lead to minor malformations, low birth weight, and poor neonatal adaptation
- Folic acid antagonists, including trimethoprim, triamterene, phenytoin, primidone, phenobarbital, and carbamazepine, can cause neural tube, cardiovascular, renal, and oral cleft defects
- Isotretinoin (Accutane) and Vitamin A can result in facial and ear anomalies, and congenital heart disease
- Lithium can lead to Ebstein anomaly
- Phenytoin can cause hypoplastic nails, IUGR, and atypical facies
- Radioactive iodine can cause fetal hypothyroidism
Common Teratogenic Drugs
- Radiation can lead to microcephaly
- Stilbestrol (DES) can cause vaginal adenocarcinoma during adolescence
- Streptomycin can cause deafness
- Testosterone-like drugs can cause virilisation of female infants
- Tetracycline can cause enamel hypoplasia
- Thalidomide can cause phocomelia
- Toluene (solvent abuse) can lead to fetal alcohol-like syndrome, and preterm labour
- Valproate can cause spina bifida
- Vitamin D can cause supravalvular aortic stenosis
Maternal Risk Factors
- Maternal age:
- Greater than 35 years old: Advanced Maternal Age
- 16 to 35 years old: Normal Maternal Age
- Less than 16 years old: Young Maternal Age
Maternal Risk Factors
- Maternal health:
- Smoking: Reduced weight and increased SIDS risk
- Alcohol: Negative effects on brain development, cyanotic heart disease, arrhythmias, CHF, prematurity
- Substance abuse: Growth retardation, IUGR, NAS/neonatal withdrawal
- Trauma: Blunt, penetrating? Evaluate everything
Maternal Risk Factors
- Condition | Effect
- --|--- Hypertension | SGA, premature birth, and placental abruption Diabetes | LGA infant, risk of hypoglycemia Hypothyroidism | Poor growth, jaundice Hyperthyroidism | Preterm delivery, SGA, birth defects if on Methimazole or tapazole, or could have neonatal Graves' disease Hyperparathyroidism | Hypocalcemia Infection | Neonatal sepsis Systemic Lupus Erythematosus | Congenital heart block, rash, anemia, thrombocytopenia, neutropenia, cardiomyopathy, stillbirth HIV, Hepatitis B & C | Infection risk Rheumatic Fever | Atrial fibrillation, CHF RH or other blood group sensitization | Fetal anemia, hypoalbuminemia, hydrops, neonatal jaundice
Birth History
- Length of pregnancy in weeks
- Maternal intrapartum events: Hospital visits, illnesses, special care
- Neonatal intrapartum events: Tachycardia, abnormal ultrasound exams, fetal decelerations during labor
Neonatal History
- APGAR scores
- Resuscitation required?
- Events in the newborn nursery: Adjustment to extrauterine life, feeding, other problems
- Age of baby when taken home
Neonatal History
- Problems during the first days of life: hypoglycemia, respiratory distress, infection, jaundice, difficulty with temperature regulation, trouble with feeding, voiding, or stooling
- Screening test results
- Old records may be helpful if complications were present
Feeding History
- Type of feeding: Breast or bottle
- Feeding problems: Resolved or current?
- Weight problems: Failure to gain weight?
Developmental History
- Achievement of milestones: Appropriate or delayed?
- Milestone regression?
- Family norms
Developmental Milestones
- Age | Gross Motor | Fine Motor - Adaptive | Personal-Social | Language
- --|---|---|---|---|
2 weeks | Moves head side to side | Regards face | Alerts to bell |
2 months | Lifts shoulder while prone | Tracks past midline | Smiles responsively | Cooing, searches for sound with eyes
- Denver Developmental Screening Test II
Immunization History
- Extremely important
- Missed doses?
- Any reactions?
Immunization Schedules
- Birth to 18 years immunization schedules, including catch-up schedules
- https://www.cdc.gov/vaccines/schedules/hcp/imz/child-adolescent.html
- https://www.immunize.org/handouts/
Family History
- All systems and first-degree relatives
- Include mental health disorders
- Ask about anything that may be pertinent for the current visit
Social History
- Details of the family unit: How many in the home? Who is in the home? Parents married? Who cares for the child? Family attitudes
- Risk factors for the child
Social History
- Home characteristics: House, apartment, or mobile home?
- Location: Town or country?
- Age of the home
- Water source: City or well water?
- Heating/cooling system type
- Basement: Dry or damp?
- Pets or livestock: Type?
- Smoking in the home or car: Who smokes?
- Parents and siblings' occupations
Parent/Child Interaction
- Parent's response to the child's needs: Eye contact, communication with siblings, communication with each other and the patient, developmental appropriateness
Interval History
- Necessary if long period (> 2 months for infants) between visits
- Very important if the child has had a serious illness, new diagnosis, or surgery
- Necessary if the child has been in protective care
Infant Review of Systems
- General: Birth weight, weight changes, feeding frequency, fevers, lack of crying, incessant crying
- Derm: Rashes, discolorations
- Hem/Onc: Easy bruising, bleeding
- Eye: Strabismus, oscillations/nystagmus, blindness
- Ear: Hearing abnormalities, ear discharge
- Nose/Mouth: Loud breathing/snoring, nasal congestion/discharge
- Cardiac: Cyanosis
- Respiratory: Wheezing, stridor, cough
- Gastrointestinal: Vomiting (projectile vs. non-projectile), jaundice, feeding issues, colic, stool frequency, color, and character
- Urinary: Frequency, hematuria
- Musculoskeletal: Joint abnormalities
- Developmental: Milestones
- Behavior: Attachment issues, attention issues
- Sleeping position, environment (use of blankets, pillows, etc.)
Take Home Points
- Let parents express concerns first
- Ask open-ended questions
- Be objective and non-judgmental
- Express interest in both the patient and the informant
- Ensure records are legible (correct spelling and grammar)
- The history may make the diagnosis
Anticipatory Guidance
- Information conveyed to parents verbally or in written materials that is meant to assist in facilitating optimal growth and development for their children
Anticipatory Guidance
- Bright Futures: AAP project to standardize and improve anticipatory guidance for pediatricians and other healthcare providers
- http://brightfutures.aap.org
- Five main areas in the neonatal/infant period:
- Injury prevention
- Violence prevention
- Sleep position
- Nutritional counseling
- Fostering optimal development
Anticipatory Guidance
- Age | Injury Prevention | Violence Prevention | Sleep Position | Nutritional Counseling| Fostering Optimal Development
- --|---|---|---|---|---| Birth | Crib safety, hot water heaters | Assess bonding and attachment | Back to sleep, crib safety | Exclusive breastfeeding | Discuss parenting skills, refer for support as needed
Newborn Heel Stick Screening
- Newborn heel stick screening is a mandatory test in all states for genetic and metabolic disorders.
- The list of disorders screened for varies by state.
- In Virginia, the screening was mandated in 1966 and must be performed on all infants unless the parent or guardian objects due to religious reasons.
- The test must be performed after 24 hours of life and repeated if the infant receives antibiotics or a transfusion.
- The Virginia Department of Health annually follows up on more than 20,000 infants with abnormal test results.
- Repeat tests can be performed for infants up to 6 months of age.
- The procedure involves cleaning the newborn's heel, sticking with a lancet, wiping the first drop of blood with gauze, and placing a drop of blood in each of the five test circles.
Virginia Newborn Screening
- Over 98,000 babies are screened annually for over 30 metabolic and hereditary disorders.
- Over 600 infants are identified each year as having one or more disorders.
- In July 2021, 8,600 babies were screened for 31 disorders and 431 were diagnosed with a critical disorder or carrier status.
Core Disorders Screened for
- Biotinidase deficiency, partial (BIO partial): 1
- Congenital adrenal hyperplasia, salt-wasting (CAH (SW)): 1
- Cystic fibrosis (CF): 1
- Hb C-disease (Hb F,C): 1
- Hb SC-disease (Hb F,S,C): 5
- Hb SS-disease (sickle cell anemia) (Hb F,S): 5
- Hypothyroidism, primary congenital (CH): 3
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD): 1
- Phenylketonuria (PKU): 1
- Pompe Disease, Probable Late Onset (Probable LOPD): 1
Secondary Disorders
- Cystic fibrosis carrier (CF carrier): 17
- Galactosemia carrier (GALT carrier): 3
- Galactosemia, duarte (unspecified): 3
- Hb C beta-thalassemia (Hb F,C,A): 1
- Hb S (sickle)-carrier (Hb F,A,S): 259
- Mucopolysaccharidosis type I Carrier, (MPS-1 Carrier): 4
- Pompe Disease, Carrier: 6
- Thyroid-binding globulin deficiency (TBG): 2
- Very long-chain acyl-CoA dehydrogenase deficiency carrier (VLCAD carrier) : 1
Hearing Screening
- Hearing screening is performed using the automated auditory brainstem response (AABR) or otoacoustic emissions (OAE) tests.
- AABR measures the vestibulocochlear nerve response to sound.
- OAE measures sound waves produced in the inner ear.
- Both tests are quick and painless.
Screening for Congenital Heart Disease
- Screening for congenital heart disease is one of the five main areas in the AAP Bright Futures project.
General Information for Infant Visits
- Date of visit
- Identifying data: name, birth date, gender, race, informant.
Chief Complaint for Infant Visits
- What prompted the patient's visit in the caregiver's own words.
- Accepting "Well visit" is acceptable.
History of Present Illness for Infant Visits
- Events leading to the visit utilizing the OPQRST or OLDCARTS format.
- For well visits, review the medical record for past notes, screening results, and overall health status.
- List any current/chronic illnesses with date of onset, hospitalizations with date and reason, surgeries with date, location, provider, medications with dose, route, frequency, and indication.
- List other members of the care team and mention any accidents, injuries, or poisonings.
Prenatal History for Infant Visits
- Questions pertaining to pregnancy including weight gain, illnesses, environmental exposures, medications, substance use, nutrition, and social situation.
Teratogenic Drugs
- Alcohol: Fetal alcohol syndrome, microcephaly, congenital heart disease.
- Fluoxetine (SSRI): Minor malformations, low birth weight, poor neonatal adaptation.
- Folic Acid Antagonist (trimethoprim, triamterene, phenytoin, primidone, phenobarbital, carbamazepine): Neural tube, cardiovascular, renal, and oral cleft defects.
- Isotretinoin (Accutane) and Vitamin A: Facial and ear anomalies, congenital heart disease.
- Lithium: Ebstein anomaly.
- Phenytoin: Hypoplastic nails, IUGR, atypical facies.
- Radioactive Iodine: Fetal hypothyroidism.
- Radiation: Microcephaly.
- Stilbestrol (DES): Vaginal adenocarcinoma during adolescence.
- Streptomycin: Deafness.
- Testosterone-like drugs: Virilization of female.
- Tetracycline: Enamel hypoplasia
- Thalidomide: Phocomelia.
- Toluene (solvent abuse): Fetal alcohol-like syndrome, preterm labor.
- Valproate: Spina bifida.
- Vitamin D: Supravalvular aortic stenosis.
Maternal Risk Factors
- Maternal Age
-
35 years old: Advanced maternal age.
- 16-35 years old: Normal maternal age.
- < 16 years old: Young maternal age.
-
- Maternal Health
- Smoking: Reduced weight and increased SIDS risk.
- Alcohol: Negative effects on brain development, cyanotic heart disease, arrhythmias, CHF, prematurity.
- Substance abuse: Growth retardation, IUGR, NAS/neonatal withdrawal.
- Trauma: Blunt or penetrating?
Developmental Milestones
- Age | Gross Motor | Fine Motor - Adaptive | Personal-Social | Language
- -- | --- | --- | --- | ---
- 2 weeks | Moves head side to side | Regards face | Alerts to bell |
- 2 months | Lifts shoulders while prone | Tracks past midline | Smiles responsively | Cooing, searches for sound with eyes
Immunization History
- It is critical to review the immunization history.
- Note any missed doses or reactions.
- The text provides helpful links to immunization schedules.
Family History
- Include all systems and first-degree relatives.
- Remember to inquire about mental health disorders.
- Ask about any pertinent information for the current visit.
Social History
- Details of the family unit: how many people live in the home, who lives in the home, marital status of the parents, who cares for the child, family attitudes, and risk factors for the child.
- Home details including type of dwelling, location, age of the home, type of water, heating/cooling system, basement, pets, any smoking in the home, and occupations of the parents and siblings.
Parent/Child Interaction
- The way the parent responds to the child's needs: eye contact, communication with siblings, communication between parents, handling and responding to the child in a developmentally appropriate way.
Interval History
- Must be obtained if there is a significant period between visits (more than 2 months for infants).
- Critical to obtain if the child has had a serious illness, new diagnosis, surgery, or has been in protective care.
Infant Review of Systems
- General: Birth weight, weight changes, feeding frequency, fevers, lack of crying, incessant crying.
- Derm: Rashes, discolorations.
- Hem/Onc: Easy bruising, bleeding.
- Eye: Strabismus, oscillations/nystagmus, blindness.
- Ear: Hearing abnormalities, ear discharge.
- Nose/Mouth: Loud breathing/snoring, nasal congestion/discharge.
- Cardiac: Cyanosis.
- Respiratory: Wheezing, stridor, cough.
- Gastrointestinal: Vomiting (projectile vs. non-projectile), jaundice, feeding issues, colic, stool frequency, color and character.
- Urinary: Frequency, hematuria.
- Musculoskeletal: Joint abnormalities.
- Developmental: Milestones.
- Behavior: Attachment issues, attention issues.
- Sleeping position: Environment (use of blankets, pillows, etc.).
Take Home Points for History Taking
- Allow parents to express their concerns.
- Ask open-ended questions.
- Be objective and non-judgmental.
- Express interest in the patient and the informant.
- Ensure the record is legible for others to read.
- Remember that a thorough history may lead to a diagnosis.
Anticipatory Guidance
- The goal is to provide information to parents/caregivers that will help promote optimal growth and development of their child.
- Bright Futures is an AAP project focusing on anticipatory guidance for pediatricians and other healthcare providers.
- The program focuses on the following five areas for neonates/infants: injury prevention, violence prevention, sleep position, nutritional counseling, and fostering optimal development.
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Description
This quiz covers various core and secondary genetic disorders, including conditions like Biotinidase deficiency, Cystic fibrosis, and Phenylketonuria. Additionally, it includes information about carriers of these disorders and related hearing screenings. Test your knowledge on these important health conditions and their implications.