What pediatric diseases occur from the neonatal period to late adolescence, listed by age range?

Pediatric Diseases by Age Range: Neonatal Period to Late Adolescence

Neonatal Period (Birth to 28 Days)

Structural and Developmental Abnormalities:

• Diffuse developmental disorders: Acinar dysplasia, congenital alveolar dysplasia, alveolar-capillary dysplasia with pulmonary vein misalignment 1
• Pulmonary hypoplasia and chronic neonatal lung disease including prematurity-related chronic lung disease (bronchopulmonary dysplasia) 1
• Oesophageal atresia-tracheoesophageal fistula (EA-TEF): Occurs in 1 in 2,400 to 4,500 births, presenting with feeding difficulties, respiratory distress, and inability to pass nasogastric tube 1
• Congenital heart disease: Often associated with chromosomal abnormalities including Trisomy 21 1
• Structural pulmonary changes with chromosomal abnormalities (Trisomy 21 and others) 1

Metabolic and Genetic Disorders:

• Neonatal diabetes: Diabetes occurring under 6 months of age, with 80-85% having an underlying monogenic cause 1
  • Permanent neonatal diabetes most commonly due to KCNJ11 and ABCC8 mutations (responsive to sulfonylureas) 1
  • Transient neonatal diabetes often due to chromosome 6q24 overexpression 1
  • INS gene mutations causing permanent diabetes with intrauterine growth restriction 1
• Surfactant dysfunction mutations: Including SFTPB, SFTPC, and ABCA3 genetic mutations presenting with respiratory distress 1
• Wolcott-Rallison syndrome (EIF2AK3 mutations): Permanent neonatal diabetes with epiphyseal dysplasia and pancreatic exocrine insufficiency 1

Immunologic Disorders:

• IPEX syndrome (FOXP3 mutations): Autoimmune diabetes, thyroid disease, and exfoliative dermatitis 1
• Perinatal hepatitis B infection: HBsAg positivity in infants aged 1-24 months born to HBsAg-positive mothers 1
• Perinatal HIV infection: Requires PCR testing at birth for high-risk infants, with sensitivity improving from 50% at birth to >90% at 2-4 weeks 1

Other Neonatal Conditions:

• Transient neonatal hypoglycemia: Associated with HNF4A-MODY mutations and large birth weight 1

Infancy (1-12 Months)

Respiratory Disorders:

• Infantile neurovisceral acid sphingomyelinase deficiency (ASMD/NPD A): Onset in early infancy with hepatosplenomegaly, pulmonary involvement, neurodegeneration, hypotonia, and failure to thrive; death typically before 3 years 1
• Pulmonary interstitial glycogenosis and neuroendocrine cell hyperplasia of infancy 1
• Childhood interstitial lung disease (chILD) syndrome: Presenting with tachypnea (75-93% of patients), hypoxemia, crackles, cough, and failure to thrive 1

Infectious Diseases:

• Upper respiratory tract infections: Most common diagnosis in primary care (47.4% of consults) 2
• Lower respiratory tract infections: Second most common (6.9% of consults) 2
• Pneumococcal disease and serious bacterial infections in HIV-infected infants 1

Genetic and Chromosomal Disorders:

• 22q11.2 deletion syndrome: High demand for genetics, cardiology, palate/craniofacial, immunology, and ENT services during infancy 1
• GATA6 mutations: Permanent neonatal diabetes with pancreatic hypoplasia and cardiac malformations 1

Early Childhood (1-5 Years)

Infectious Diseases:

• Upper respiratory tract infections: Highest consultation rates in 1-4 year age group (41.5% of all pediatric consults) 2
• Skin and soft tissue infections: Third most common diagnosis (5.3% of consults), predominantly in 1-4 year olds 2
• Gastroenteritis: Majority of cases in 1-4 year age group 2
• Invasive meningococcal disease: Serogroup B most common (11.5% of cases in this age group) 3

Respiratory Disorders:

• Asthma: Majority of consults in 1-4 year age group 2
• Chronic neurovisceral ASMD (NPD A/B): Slower progression with ataxia, gross motor delays, and learning disabilities 1

Developmental and Neurologic:

• 22q11.2 deletion syndrome: High demand for cognition/development, speech/language services in early childhood 1
• Neurodevelopmental disorders: Developmental delay and cognitive deficits becoming recognizable 1

Metabolic:

• Maturity-onset diabetes of the young (MODY): Can present in early childhood, though more common in adolescence 1

School-Age Children (6-12 Years)

Infectious Diseases:

• Urinary tract infections: More frequently recorded in 5-9 year age group 2
• Otitis media or externa: More common in 5-9 year olds 2
• Invasive meningococcal disease: Serogroup B remains common 3

Chronic Conditions:

• Chronic visceral ASMD (NPD B): Hepatosplenomegaly often diagnosed in early childhood, with delayed growth and puberty, fatigue, bone and joint pain, osteopenia, thrombocytopenia 1
• Cystic fibrosis-related diabetes (CFRD): Begins to emerge, affecting about 20% of adolescents 1

Neuropsychiatric:

• 22q11.2 deletion syndrome: Increasing demand for psychiatry services, with developmental delay and cognitive deficits becoming evident 1
• Fetal Alcohol Syndrome: Two-thirds diagnosed beyond 1 year of age 4
• Congenital hearing loss: One quarter diagnosed beyond 1 year of age 4

Autoimmune:

• Type 1 diabetes: Rarely occurs before 6 months but increases in school-age children 1

Adolescence (13-18 Years)

Metabolic and Endocrine:

• MODY (HNF1A, HNF4A): Progressive insulin secretory defect with presentation in adolescence or early adulthood 1
• Type 2 diabetes: Increasing prevalence in adolescents, though A1C not recommended for diagnosis in this age group 1
• Cystic fibrosis-related diabetes: Affects 20% of adolescents and 40-50% of adults with cystic fibrosis 1

Infectious Diseases:

• Invasive meningococcal disease: Adolescents aged 13-19 years represent the largest group (34.2% of cases), with serogroup W most common (17.2%) 3
• HIV infection: Can present with immune thrombocytopenic purpura, anemia, recurrent parotitis, chronic diarrhea, encephalopathy, or stroke 1

Hematologic Malignancies:

• Acute lymphoblastic leukemia (ALL): Adolescents and young adults (AYAs) represent a unique population with distinctive disease behavior and treatment resistance 5, 6

Chronic Multisystem Disorders:

• 22q11.2 deletion syndrome: Peak demand for psychiatry services in adolescence as individuals face increasing educational and social demands 1
  • Behavioral differences become particularly evident 1
  • Developmental delay, variable cognitive deficits prominent 1
• Chronic visceral ASMD: Progressive splenomegaly, worsening pulmonary function, interstitial lung disease, proatherogenic lipid profile, hepatic fibrosis progressing to cirrhosis 1
• EA-TEF long-term complications: GERD, peptic oesophagitis, Barrett oesophagus, eosinophilic oesophagitis, anastomotic strictures, feeding disorders, dysphagia, oesophageal dysmotility 1

Autoimmune:

• Systemic lupus erythematosus: Changing features from birth to adolescence 7

Respiratory:

• Asthma: Severe forms and complications more apparent 7

Late Adolescence to Young Adulthood (>18 Years)

Transition-Related Issues:

• 22q11.2 deletion syndrome: Requires coordinated transition to adult care before age 18, with formal neuropsychological assessment and consideration of legal guardianship 1
• EA-TEF: Risk of oesophageal adenocarcinoma, squamous cell carcinoma, and epidermoid carcinoma in adults 1

Note on Age-Specific Considerations:

• Many birth defects (18.7%) are diagnosed prenatally, 47.8% by 1 month, 20.4% between 1 month and 1 year, and 12.1% between 1-6 years of age 4
• Pediatric primary care focuses on comprehensive healthcare from neonatal period through adolescence, with respiratory tract infections being the most common presenting complaint across all age groups 2