Familial mental retardation: a review and practical classification

Mental retardation (MR) is a definition which comprises a series of conditions whose common feature is an intellectual handicap that develops before the age of 18, afflicting 2-3% of the world's population. The classification of MR into different categories is determined by the extent of the handicap instead of its cause, which often remains unrecognized. Sometimes, MR runs in a family, characterizing familial MR, and those cases permit an in-depth look into the genetic causes and consequences of the problem. However, almost no work is available on the prevalence of familial MR among the registered MR cases, possibly because familial MR is a term with no clear definition. The scope of this work is to review the topic and discuss the implications of different genetic and environmental factors, which characterize particular categories of familial cases, suggesting a practical classification of familial MR, which is important for epidemiologic studies and also for counseling in the clinic. Some of the aspects are discussed under the perspective of a newly-developed country like Brazil.

Intellectual Handicap in Contemporary Psychiatry

Objective: To apprise readers of the ‘state of play’ in the psychiatry of intellectual handicap. Method: A review was conducted of relevant journals and conference abstracts covering a range of scientific aspects of intellectual disability. Those developments considered to be most significant were summarised. In addition, consideration is given to issues relevant to the politics of disability affecting psychiatric practice in Australia. Results: There have been considerable developments in our understanding of the pathogenesis of intellectual handicap in pharmacotherapy and the behavioural therapies, in the taxonomy of psychopathology, in epidemiology, in delineation of behaviour phenotypes, and in assessment and measurement of psychopathology. Conclusion: Intellectual handicap and psychiatry have had a chequered relationship in Australia, but the two fields are now clearly moving again to a closer and more productive collaboration. Recent scientific advances have provided a stimulating environment for this increased activity and interest.

An XXYY Male with Schizophrenia

Objective: A case of XXYY associated with schizophrenia is presented. Clinical picture: A European male with tall stature, hypogonadism, and mild grade intellectual handicap with significantly lower verbal than performance Intelligence Quotient (IQ) exhibited features of chronic paranoid schizophrenia, along with impulsive aggression. Treatment and outcome: A trial of testosterone replacement exacerbated aggression. Psychotic symptoms persisted despite antipsychotic therapy. Conclusions: This is perhaps the first report of the XXYY syndrome associated with schizophrenia. The psychosis occurs more often in XXY and XXX than normal subjects, providing a clue to locating a gene predisposing to schizophrenia.