Methods of treating various neurodevelopmental and neuropsychiatric diseases which employ inhibition of the mTOR pathway, particularly using mTOR kinase inhibitors. The present invention provides methods of treating subjects suffering from neurodevelopmental and/or neuropsychiatric disorders comprising administering, to the subject, an agent that inhibits the mTOR pathway. Preferably the inhibitor of the mTOR pathway is a mTOR kinase inhibitor such as WYE 125132 and analogous compounds. Subjects may be tested to determine whether they have a copy number variation or mutation in CNTNAP2 and where such a copy number variation or mutation is present treatment with a mTOR pathway inhibitor may be initiated.
