Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0262471 (ENT)
 5,307 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autism is a behavioural syndrome, present from early life and defined by deficient social interaction, language and communication, and play. Variations in symptomatology and in prognosis among characteristic persons display a variety of other signs such as attention deficits, mental retardation and seizures that are not specific to autism and that denote dysfunction in other brain systems. Its aetiology is unknown in the vast majority of cases. There is a small minority of persons in whom autism has a known aetiology, such as fragile X chromosome abnormality, congenital rubella, tuberous sclerosis and a variety of structural abnormalities and metabolic diseases of the brain. A causal treatment is so far not possible, and there remains a regrettable lack of evaluated treatment standards. Prognosis depends on many factors, most notably the limiting factor provided by the severity of the underlying brain dysfunction and its consequences for communication, cognition and other behaviour. ENT specialists are confronted with children, adolescents and even adults in whom autistic disease has already been diagnosed in the course of investigations/treatment. If the suspicion of hearing impairment as the cause of problems in daily life is not confirmed in a patient not hitherto known to have autism ENT specialists should also consider autism in the differential diagnosis. In this report the diagnostic and therapeutic strategies currently applied for autism and its importance for ENT specialists are presented.
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PMID:[Autism spectrum disorders. Current knowledge and importance for ENT specialists]. 1821 5

Mental retardation (MR) has a prevalence of about 2%, and developmental speech disorders with unknown cause about 7%. Very often, developmental delay represents an early warning sign of later developmental problems, such as mental retardation and other developmental disorders (DD). Prognosis depends on many factors, most notably the limiting factor provided by the severity of the underlying brain dysfunction and its consequences for communication, cognition and other behaviour. Chromosomal aberrations are the major cause of MR and also play a role in mild forms of DD and speech acquisition delay. ENT specialists are confronted with children with DD or language acquisition disorders. If the suspicion of hearing impairment as the cause of problems in daily life is not confirmed in a patient, ENT specialists should also consider genetic causes in the differential diagnosis.
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PMID:[Genetic causes in mild speech acquisition delay with/without mild developmental delay: significance for ENT physicians]. 2033 73