What conditions should be monitored in a patient with congenital rib absence, Autism Spectrum Disorder, and G6PD deficiency?

Monitoring Requirements for a 5-Year-Old with Congenital Rib Absence, Autism, and G6PD Deficiency

The child should be monitored for methemoglobinemia, hemolytic episodes, metabolic disorders, and potential complications related to the congenital rib absence, with particular attention to avoiding oxidant drugs that could trigger hemolysis due to G6PD deficiency. 1

G6PD Deficiency Monitoring

Medication Safety

• Screen all medications before administration for potential to cause oxidative stress 1
• Avoid oxidant drugs including:
  • Dapsone
  • Primaquine
  • Sulfonamides
  • Methylene blue (contraindicated in G6PD deficiency) 1

Laboratory Monitoring

• Complete blood count with differential at baseline and periodically 1
• Monitor for signs of hemolysis when exposed to:
  • Certain medications
  • Fava beans (avoid in diet)
  • Infections with fever 2, 3

Hemolysis Warning Signs

• Jaundice
• Pallor
• Dark urine
• Fatigue
• Shortness of breath
• Rapid heart rate 2, 4

Autism Spectrum Disorder Monitoring

Developmental Surveillance

• Regular neurodevelopmental assessments focusing on:
  • Language development (receptive and expressive)
  • Social communication skills
  • Repetitive behaviors
  • Motor skills 1

Metabolic Monitoring

• Screen for metabolic disorders that can present with ASD symptoms:
  • Serum amino acid analysis
  • Urine screening for glycosaminoglycans 1, 5
• Monitor for signs requiring metabolic evaluation:
  • Developmental regression
  • Seizures
  • Lethargy
  • Acid/base disturbances
  • Gastrointestinal dysfunction 1, 5

Genetic Considerations

• Consider chromosomal microarray (CMA) if not already done 1
• Monitor head circumference (macrocephaly >2.5 SD above mean warrants PTEN testing) 1

Congenital Rib Absence Monitoring

Cardiopulmonary Assessment

• Regular assessment of respiratory function
• Monitor for signs of pulmonary hypertension:
  • Exercise intolerance
  • Shortness of breath
  • Fatigue 1

Structural Monitoring

• Regular physical examination to assess for:
  • Chest wall deformity progression
  • Scoliosis development
  • Restrictive lung disease 1
• Consider periodic imaging (chest X-ray) to monitor skeletal development

Integrated Care Approach

Acute Illness Management

• Develop emergency care plan for:
  • Hemolytic crisis (rapid access to transfusion if needed)
  • Respiratory infections (higher risk due to chest wall abnormality)
  • Fever management (can trigger hemolysis in G6PD deficiency) 1, 2

Multidisciplinary Coordination

• Coordinate between:
  • Hematology for G6PD management
  • Developmental pediatrics/neurology for autism
  • Orthopedics/pulmonology for rib absence
  • Primary care for integration of care

Common Pitfalls to Avoid

• Failing to recognize that methylene blue is contraindicated in G6PD deficiency for treatment of methemoglobinemia 1
• Missing early signs of hemolysis which can rapidly progress
• Attributing all behavioral changes to autism rather than considering metabolic causes 1, 5
• Overlooking the potential for respiratory compromise during illness due to the congenital rib absence

By systematically monitoring these aspects, clinicians can provide comprehensive care that addresses the unique combination of conditions in this child, preventing complications and optimizing outcomes.