Differential Diagnosis for 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, without a specific underlying cause identified.
- Other Likely diagnoses:
- Autism Spectrum Disorder (ASD): ASD often presents with developmental delays, particularly in social interaction and communication skills.
- Cerebral Palsy: A group of disorders that affect movement, balance, and coordination, often associated with developmental delays.
- Down Syndrome: A genetic disorder that can cause developmental delays, intellectual disabilities, and distinct physical features.
- Fetal Alcohol Spectrum Disorder (FASD): Exposure to alcohol in utero can lead to developmental delays, cognitive impairments, and behavioral issues.
- Do Not Miss diagnoses:
- Congenital Hypothyroidism: Untreated congenital hypothyroidism can lead to severe developmental delays and intellectual disability, making early diagnosis and treatment crucial.
- Phenylketonuria (PKU): A genetic disorder that can cause developmental delays, intellectual disability, and seizures if left untreated.
- Congenital Infections (e.g., CMV, toxoplasmosis): These infections can cause developmental delays, hearing loss, and vision impairment, emphasizing the need for prompt diagnosis and treatment.
- Rare diagnoses:
- Rett Syndrome: A rare genetic disorder that affects brain development, causing severe developmental delays, intellectual disability, and physical disabilities.
- Angelman Syndrome: A genetic disorder characterized by developmental delays, intellectual disability, and distinct physical features, often accompanied by seizures and sleep disorders.
- Prader-Willi Syndrome: A rare genetic disorder that causes developmental delays, intellectual disability, and a constant hunger feeling, leading to obesity if not managed properly.
- Smith-Magenis Syndrome: A rare genetic disorder associated with developmental delays, intellectual disability, and distinct physical and behavioral characteristics.