What is the diagnosis for a 5-year-old boy with attention deficits, developmental delays, and physical examination findings of macrocephaly, mild hypotonia, and joint hypermobility?

Medical Advisory BoardAll articles are reviewed for accuracy by our Medical Advisory Board
Educational purpose only • Exercise caution as content is pending human review
Article Review Status
Submitted
Under Review
Approved

Last updated: April 28, 2025View editorial policy

Personalize

Help us tailor your experience

Which best describes you? Your choice helps us use language that's most understandable for you.

Differential Diagnosis

  • Single most likely diagnosis
    • Autism Spectrum Disorder (ASD): The patient's history of delayed speech, difficulty with social interactions and transitions, and repetitive behaviors (hand flapping) are all consistent with ASD. The patient's ability to complete tasks with one-on-one teaching and his mother's history of learning difficulties also support this diagnosis.
  • Other Likely diagnoses
    • Attention Deficit Hyperactivity Disorder (ADHD): The patient's difficulty staying focused and disruptive behavior in the classroom could be indicative of ADHD. However, the presence of other symptoms such as hand flapping and delayed speech suggest that ASD may be a more comprehensive diagnosis.
    • Fragile X Syndrome: The patient's prominent forehead and chin, mild hypotonia, and joint hypermobility are all physical characteristics associated with Fragile X Syndrome. Additionally, the patient's developmental delays and learning difficulties are also consistent with this diagnosis.
  • Do Not Miss
    • Lead Poisoning: Although less likely, lead poisoning can cause developmental delays, behavioral difficulties, and learning disabilities. It is essential to consider this diagnosis, as it is a treatable condition that can have significant long-term consequences if left untreated.
    • Thyroid Disorders: Hypothyroidism, in particular, can cause developmental delays, learning disabilities, and behavioral difficulties. It is crucial to rule out thyroid disorders, as they are treatable and can have significant impacts on the patient's quality of life.
  • Rare diagnoses
    • Rett Syndrome: This rare genetic disorder is characterized by developmental regression, hand wringing, and intellectual disability. Although the patient's symptoms do not entirely align with Rett Syndrome, it is essential to consider this diagnosis due to its severe prognosis and the need for early intervention.
    • Smith-Magenis Syndrome: This rare genetic disorder is characterized by developmental delays, learning disabilities, and behavioral difficulties, as well as physical characteristics such as a prominent forehead and chin. Although less likely, this diagnosis should be considered due to its unique set of symptoms and the need for individualized treatment.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

Have a follow-up question?

Our Medical A.I. is used by practicing medical doctors at top research institutions around the world. Ask any follow up question and get world-class guideline-backed answers instantly.