Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

OBJECTIVE: To discuss clinical and electroencephalographic aspects and the genetic mechanisms of three neurogenic syndromes that can be related to nosologic entities in the heterogenic pathological group presenting symptoms of mental retardation and autism. SOURCES: The authors carried out a bibliographic review on each syndrome involved, correlating and characterizing the neurological manifestations, as well as describing genetic mechanisms and identifying biological markers. SUMMARY OF THE FINDINGS: The authors were able to confirm that Rett Sydrome is a genetic disease resulting from the mutation of the MECP2 gene and clinical variations can be explained by different mutations in this gene. Angelman syndrome has four genetic mechanisms responsible for phenotypic variations and different risks of recurrence. In Fragile-X syndrome, the degree of cognitive impairment is related to the number of trinucleotide repeats. CONCLUSIONS: Different genetic mechanisms of the three syndromes are responsible for clinical variability. By identifying the biological markers, the diagnosis will be performed earlier and it will be possible to identify new subtle expressions of the disease.
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PMID:[Neurological manifestation and genetic diagnosis of Angelman, Rett and Fragile-X syndromes] 1467 69

OBJECTIVE: This review aims at providing pediatricians with an update on the main causes involved in low school achievement. A more detailed approach is given for the management and treatment of attention deficit hyperactive disorder. SOURCES: Data was obtained by a systematic review of published literature in Medline, through a search on Pubmed in the last five years. The key words used were learning disability, attention deficit, dyslexia (reading disorder) and dyscalculia (mathematical disorder). Studies focusing evaluation and management were retrieved. Governmental population educational data on literacy was also included. SUMMARY OF THE FINDINGS: Statistical medical Brazilian data on the subject is scarce. Hearing, visual and mental deficiency, together with attention deficit hyperactive disorder and specific learning disorders should be part of the differential diagnosis of children with poor school achievement. Development should be carefully followed until school entrance, particularly in children at risk. CONCLUSIONS: Therapy with stimulants, anti-depressive drugs or cloninidine with multimodal treatment improves school achievement in children with attention deficit hyperactive disorder.
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PMID:[Management of learning disorders and attention deficit in children] 1467 73