Table 3.
History | Physical and neurodevelopmental exams |
---|---|
Family history | Physical exam |
Three-generations review, looking for: | • Growth parameters |
• Recurrent miscarriages | • Head shape |
• Birth defects | • Fontanelle |
• Infant deaths | • Cutaneous stigmata |
• GDD/ID | • Spine |
• Neurologic conditions | • Heart abnormalities |
• Genetic conditions | • Abdomen check for organomegaly |
• Ethnic background | • Limb abnormalities |
• Consanguinity | • Genital abnormalities |
Psychosocial history | Neurodevelopmental exam |
• Parent language, education, employment | • Neurological exam |
• Parental drug/alcohol abuse | • Congenital abnormalities |
• Child care arrangements | • Dysmorphic features |
• History of abuse or neglect and involvement of child protective services | • Current developmental level |
Prenatal history | |
• Prenatal ultrasound | |
• Screening for fetal aneuploidy | |
• Maternal diabetes or hypertension | |
• Infections | |
• Exposure to medications or toxins | |
Birth history | |
• Weight and height | |
• Head circumference | |
• Apgar score | |
• Length of hospitalization | |
Red flags suggestive of inborn errors of metabolism | |
• Table 4 | |
Developmental milestones | |
• Regression or lack of milestones | |
• Timing of parents’ first concern |
GDD Global developmental delay; ID Intellectual disability