Differential Diagnosis for 12-Month-Old with Developmental Delay
Single Most Likely Diagnosis
- Global Developmental Delay: This is the most likely diagnosis as it encompasses a broad range of developmental delays, including cognitive, motor, and language skills, which are common in children presenting with developmental issues at this age.
Other Likely Diagnoses
- Cerebral Palsy: A condition that affects movement, muscle tone, and coordination, often diagnosed in early childhood. Developmental delay can be an early sign.
- Autism Spectrum Disorder (ASD): Although ASD can be diagnosed earlier, some signs might not be apparent until around 12 months, including developmental delays in social interaction and communication.
- Down Syndrome: A genetic disorder that can cause developmental delays, intellectual disabilities, and distinct physical features.
- Hearing or Vision Impairment: Sensory impairments can significantly impact a child's development, particularly in language and social skills.
Do Not Miss Diagnoses
- Congenital Hypothyroidism: Untreated, this condition can lead to severe developmental delays and intellectual disability. Early detection through newborn screening and treatment can prevent long-term effects.
- Phenylketonuria (PKU): A genetic disorder that, if untreated, can cause intellectual disability and other serious health problems. Newborn screening typically identifies PKU, but in cases where screening was missed or the condition was not adequately managed, developmental delay could be a presenting symptom.
- Tuberous Sclerosis Complex (TSC): A genetic disorder that can cause developmental delays, seizures, and tumors in various organs. Early diagnosis is crucial for managing the condition and preventing complications.
- Lead Poisoning: Exposure to lead can cause developmental delays, among other health issues. It's essential to consider environmental factors, especially in children living in older homes with potential lead-based paint.
Rare Diagnoses
- Rett Syndrome: A rare genetic disorder that affects brain development, causing severe mental and physical disability. It mostly affects girls and becomes apparent after a few months of life.
- Krabbe Disease: A rare, genetic disorder that destroys the protective covering of nerve fibers, leading to developmental delays and neurological deterioration.
- Neurodegenerative Disorders (e.g., Tay-Sachs Disease): These are rare, inherited disorders that cause progressive destruction of nerve cells in the brain and spinal cord, leading to developmental delays and regression.
- Mitochondrial Disorders: A group of rare diseases caused by dysfunction of the mitochondria, which can lead to developmental delays, among other systemic symptoms.