Neonate Screening and Hearing Tests
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Questions and Answers

What is the primary goal of newborn screening?

  • To assess the developmental milestones of the baby
  • To ensure all babies are vaccinated before discharge
  • To determine the baby’s weight and height accurately
  • To detect life-threatening disorders before they become symptomatic (correct)
  • Which of the following conditions is detected by the newborn blood spot panel?

  • Neonatal diabetes
  • Pediatric obesity
  • Congenital cataracts
  • Cystic fibrosis (correct)
  • What does the OAE test specifically assess in newborns?

  • Balance and coordination
  • Neurological reflexes
  • Visual acuity
  • Inner ear's response to sound (correct)
  • How does pulse oximetry help in newborn screening for critical congenital heart defects?

    <p>It estimates oxygen levels in the baby’s blood</p> Signup and view all the answers

    What is one benefit of early detection of disorders through newborn screening?

    <p>It allows for timely intervention and improved outcomes</p> Signup and view all the answers

    What is the incidence of developmental dysplasia of the hip (DDH) in babies born in breech presentation?

    <p>16-25%</p> Signup and view all the answers

    Which of the following conditions is least prevalent among the commonly diagnosed conditions during neonatal screening?

    <p>Cystic fibrosis</p> Signup and view all the answers

    What is a primary characteristic of developmental dysplasia of the hip (DDH)?

    <p>Increased joint laxity</p> Signup and view all the answers

    What is the purpose of early identification through newborn screening?

    <p>To reduce long-term morbidity and mortality</p> Signup and view all the answers

    Which maneuver is NOT used to screen for developmental dysplasia of the hip (DDH) in neonates?

    <p>Knee extension test</p> Signup and view all the answers

    Which group of DDH occurs without defined syndromes or genetic conditions?

    <p>Typical DDH</p> Signup and view all the answers

    What percentage of patients with DDH have a positive family history?

    <p>12-33%</p> Signup and view all the answers

    Which intrauterine condition is associated with a higher incidence of DDH?

    <p>Oligohydramnios</p> Signup and view all the answers

    What is the primary clinical examination method for assessing hip stability in infants younger than three months?

    <p>Ortolani maneuver</p> Signup and view all the answers

    In infants aged 3-6 months, which examination finding is considered a classic identifier of unilateral hip dislocation?

    <p>Galeazzi sign</p> Signup and view all the answers

    What indicates a positive Klisic test in children with DDH?

    <p>Line passing below the umbilicus</p> Signup and view all the answers

    Which sign is typically present in walking-aged children with unilateral DDH?

    <p>Positive Trendelenburg sign</p> Signup and view all the answers

    Which of the following best describes a common presentation of walking children with unilateral DDH?

    <p>Waddling gait and leg-length discrepancy</p> Signup and view all the answers

    What is a common clinical feature associated with bilateral developmental dysplasia of the hips?

    <p>Wide perineum</p> Signup and view all the answers

    Asymmetry in skin folds can be a clue for diagnosing unilateral DDH due to which reason?

    <p>Bunching of skin and muscle around a shortened femur</p> Signup and view all the answers

    Which maneuver is primarily used to evaluate hip instability in infants?

    <p>Barlow maneuver</p> Signup and view all the answers

    Which diagnostic tool is primarily used for assessing developmental dysplasia of the hips before the ossification of the femoral head?

    <p>Ultrasonography</p> Signup and view all the answers

    What physical finding might indicate a child with unilateral DDH may present with?

    <p>Shorter affected side and positive Trendelenburg sign</p> Signup and view all the answers

    What sign indicates unequal knee levels when the hips are flexed?

    <p>Galeazzi sign</p> Signup and view all the answers

    During the Trendelenburg test, what occurs on the unaffected side when a patient stands on the affected leg?

    <p>The pelvis tilts downward</p> Signup and view all the answers

    What is typically evaluated in the Graf classification of hip dysplasia?

    <p>Morphology of the iliac bone</p> Signup and view all the answers

    What happens to the lumbar region due to altered hip mechanics in developmental dysplasia?

    <p>Excessive lordosis</p> Signup and view all the answers

    Which part of the anatomy is least impacted in the initial assessment of hip dysplasia during the early newborn period?

    <p>Bony rim angular measurement</p> Signup and view all the answers

    Which feature does NOT typically characterize the imaging display of ultrasonography for hip dysplasia?

    <p>Vertical anatomy alignment</p> Signup and view all the answers

    What angle value is considered normal for α in the context of acetabular dysplasia?

    <blockquote> <p>60 degrees</p> </blockquote> Signup and view all the answers

    What is the recommended diagnostic test for infants once the proximal femoral epiphysis ossifies?

    <p>Radiography</p> Signup and view all the answers

    At what age should the Pavlik harness be initiated for treatment of DDH if a problem persists beyond six weeks?

    <p>4 weeks to 6 months</p> Signup and view all the answers

    What is the general outcome when treated for DDH during the first six months of life using the Pavlik harness?

    <p>Achieves and maintains hip reduction in approximately 95 percent of cases</p> Signup and view all the answers

    What is the significance of the β angle in relation to femoral head subluxation?

    <p>It increases as the femoral head subluxates</p> Signup and view all the answers

    What is an important strategy to avoid in the diagnosis of DDH in infants younger than four weeks?

    <p>Over-diagnosis and overtreatment</p> Signup and view all the answers

    What type of reduction is generally necessary for children diagnosed with DDH who are older than six months?

    <p>Both closed and open reduction is possible</p> Signup and view all the answers

    What indicates the need for regular hip radiographs in children previously treated for DDH?

    <p>To assess hip development and potential complications</p> Signup and view all the answers

    Study Notes

    Neonate Screening

    • Newborn screening aims to identify life-threatening or long-term health disorders before symptoms appear.
    • Conditions screened include inborn errors of metabolism, endocrine disorders, hemoglobinopathies, immunodeficiency, cystic fibrosis, hearing loss, and critical congenital heart disease.
    • Early intervention can reduce morbidity and mortality in affected newborns.
    • Congenital hearing loss is a condition screened for in newborns. Criticals congenital heart disease is also screened, typically using pulse oximetry.
    • Newborn blood spot panels are used to screen for inborn errors of metabolism and immunity. Other conditions also screened for include congenital hypothyroidism, congenital adrenal hyperplasia, hemoglobinopathies, cystic fibrosis, and spinal muscular atrophy.

    Two-Stage Newborn Hearing Screening

    • Screening for newborns who are admitted to a well-baby nursery.
    • Two stages:
    • Stage 1: Otoacoustic Emissions (OAE) testing measures the inner ear's response to sound and is typically done on infants unable to respond to behavioral tests.
    • Stage 2: If Stage 1 is passed, screening is complete. If not, further testing and referral to an audiologist is needed.

    Newborn Screening for Critical Congenital Heart Defects

    • Pulse oximetry is a simple bedside test that estimates oxygen levels in a baby's blood.
    • Low oxygen levels detected by pulse oximetry may indicate a critical congenital heart defect (CHD), prompting further evaluation and management.
    • The test is painless and takes only a few minutes.
    • Early detection allows for timely intervention and improves outcomes for infants with CHDs.
    • A modified screening algorithm using pulse oximetry measurements at different times can be used to diagnose CHD.

    Developmental Dysplasia of the Hip (DDH)

    • Describes a spectrum of conditions related to hip development in infants and young children.
    • Includes abnormal development of the acetabulum and proximal femur and mechanical instability of the hip joint.
    • Higher incidence in breech babies, those with oligohydramnios or large birth weights.
    • Often asymptomatic in newborns. Requires specific maneuvers for screening.

    DDH Classification

    • Typically, DDH occurs in otherwise healthy individuals without any underlying condition.
    • Teratologic hip dislocations have visible causes (e.g., arthrogyposis, or genetic syndromes) and occur before birth.

    DDH in Neonates

    • Screening and physical exam need to be performed in a warm, comfortable setting, where infants are unclothed.
    • Crucial maneuvers include the Barlow and Ortolani tests for identifying DDH. These tests evaluate hip joint stability, and identifying potential problems.

    Age-Specific Findings of DDH

    • Infants under three months: Assess hip stability. Use the Barlow and Ortolani maneuvers.
    • After three months, assessment includes evaluating limited abduction, thigh-length discrepancies, Galeazzi, Klisic tests. These indicators are more reliable.
    • Walking-aged children with DDH show hip abductor weakness detected using the Trendelenburg test (pelvic tilt, inability to maintain pelvis horizontally while standing on one leg) and potentially a Trendelenburg lurch when walking.

    Clinical Features of Bilateral DDH

    • Wide perineum: A likely result of the lateral positioning of the femoral heads and their necks.
    • Hyperlordosis: caused by superior and posterior displacement of the femoral heads and necks.

    Diagnostic Testing - Ultrasonography

    • Ultrasound is the preferred diagnostic method for DDH in infants before femoral head ossification. Physical exam is preferred over ultrasound in neonates due to the high incidence of false positives.
    • Ultrasound measures specific points of interest to assess the acetabulum, labrum, and femoral head.

    Diagnostic Testing - Radiography

    • Radiographs are essential once the femoral epiphysis ossifies (around 4-6 months old).
    • Radiographs are more efficient, cost-effective, and less dependent on operators than ultrasounds, hence used to assess hip development.
    • Interpretations involve using classic lines (e.g., Shenton and Hilgenreiner lines) to visualize and understand hip shape.

    DDH in Infants Aged 3-6 Months

    • The Galeazzi sign (one leg appears shorter) could be used to assess unilateral hip dislocations. One leg may appear shorter as a result.

    Asymmetrical Thigh Folds

    • Asymmetric thigh folds might be caused by the presence of DDH. Bunching of skin and muscle is a likely indicator of the hip dislocation.

    Klisic Test

    • Used to assess the presence of a dislocated hip. A line drawn between the Anterior Superior Iliac Spine and the greater trochanter normally passes through the umbilicus or above it. Placement below the umbilicus can signal a possible dislocation.

    The Walking Child

    • Common presenting symptoms includes limp, waddling gait, or leg-length discrepancy. Infants may toe-walk on the affected side.
    • The Trendelenburg sign and the abductor lurch are common indicators in walking children.
    • The Galeazzi sign may be present. It involves examining the degree of different levels of knees when hips are flexed.

    Trendelenburg Test

    • The Trendelenburg test assesses gluteal muscle weakness, which is a consequence of DDH. The test looks at the tilt of the pelvis when standing on one leg. The pelvis is supposed to be relatively level when standing, but with gluteal weakness, one side of the pelvis will drop relative to the other side. The position of the hip on the affected side is different from the unaffected side.

    Diagnostic Testing - Radiography

    • Radiographs are a crucial diagnostic tool once the proximal femur ossifies (or around 4–6 months of age). They are generally more effective, cost-effective, and require less operative dependency.

    DDH Treatment

    • Infants under 4 weeks: Mild cases often resolve spontaneously. Avoid overdiagnosis and treatment.
    • 4 weeks to 6 months: Re-evaluation, ultrasound. If issues persist, consider treatment via Pavlik harness.
    • Older than six months: Reduction under anesthesia.

    DDH Outcome

    • Long-term outcome depends on age at diagnosis, severity and treatment success.
    • Treatment with a Pavlik harness is often successful in most cases.
    • Patients should be monitored regularly using radiographs throughout their musculoskeletal development to monitor any potential long-term complications.

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    Description

    This quiz covers newborn screening practices aimed at identifying critical health disorders in neonates. It focuses on various conditions screened, such as metabolic and endocrine disorders, including a detailed look at the two-stage newborn hearing screening process. Participants will gain insights into early interventions that can significantly impact the health of newborns.

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