Doctor insights on:
Son was diagnosed w/Dubowitz syndrome and non-verbal learning disorder several years ago,now 25, depressed,not productive, how to help him move forwar?
Very rare disorder: There is a lack of information on the long-term outcome of the disorder, assoc. medical problems, and adult level of functioning. Individual outcomes appear to be related to the primary physical, medical, cognitive, and psychological manifestations of the disorder, how they progressed over time, treatment received, the individuals adaptability. Psychiatric eval. could help manage his depression. ...Read more
Genetic blindness: This is an autosomal recessive disease (i.e., the patient inherits one defective gene from each parent), with progressive loss of vision and sometimes other neurologic problems. Carriers (one copy of the gene) may have some visual problems. There is no specific treatment, and my hope is that if you or someone you know is affected, good supportive care will be available. ...Read more
Sharpe Syndrome : Its another name for mixed connective tissue disease, an autoimmune disease with features of systemic lupus erythematosus, scleroderma, and polymyositis, sometime referred to as undifferentiated connective tissue disease. Individuals who have this condition are best served by a rheumatologist (an internist with subspecialty training in rheuamtology). ...Read more
Tumor family: This is a fairly common trait passed parent-to-child, 50% chance, in which certain tumors are substantially more common and there may be curious bumps especially on the skin. It is not curable but if good surveillance for tumors is maintained, it's manageable. Several genetic loci are known especially pten, and genetic counseling is available. ...Read more
Deadly process: First noted in the 60'sand peaking in the 70's, this is a pattern of acute liver failure,coma and often death. It often struck kids recovering from flu or chickenpox. Its cause is unclear, but an association with intake of any salicylate product was recognized.After salicylates were stopped for kids under 16, the condition has all but disappeared. ...Read moreSee 1 more doctor answer