Differential Diagnosis for Developmental Delays in a 2-year-old
- Single most likely diagnosis
- b. Autism Spectrum Disorder (ASD): The child's inability to speak, lack of eye contact with the parent, and delayed developmental milestones are all consistent with ASD. The child's ability to follow instructions and engage in physical contact, such as touching the face, also aligns with ASD, as children with ASD may have varying levels of social interaction and communication skills.
- Other Likely diagnoses
- a. Hearing disorder: A hearing disorder could contribute to the child's speech delay and difficulty with communication. However, the child's ability to follow instructions and respond to non-verbal cues suggests that a hearing disorder may not be the primary cause of the developmental delays.
- d. Neglect: Neglect could be a contributing factor to the child's developmental delays, particularly given the child's low weight percentile. However, the child's ability to follow instructions and engage with the examiner suggests that neglect may not be the sole cause of the delays.
- Do Not Miss diagnoses
- Traumatic brain injury or other neurological disorders: Although less likely, it is essential to consider the possibility of a traumatic brain injury or other neurological disorders that could be causing the child's developmental delays. These conditions can have severe and long-lasting consequences if left undiagnosed or untreated.
- Inborn errors of metabolism or genetic disorders: Certain genetic disorders or inborn errors of metabolism can cause developmental delays and may have serious health implications if not identified and managed promptly.
- Rare diagnoses
- c. Trisomy 21 (Down syndrome): While Trisomy 21 can cause developmental delays, the child's height and head circumference percentiles are within the normal range, making this diagnosis less likely. Additionally, children with Down syndrome often have distinct physical characteristics, which are not mentioned in the scenario.
- Other rare genetic or metabolic disorders: There are many rare genetic and metabolic disorders that can cause developmental delays. While these diagnoses are less likely, they should be considered if other more common causes are ruled out.