1. SECTIONS:
2. preface & acknowledgements
3. genetics at a glance
4. contacts, support & testing
5. testing & pregnancy
6. newborn screening
7. cancer in the family
8. cardiovascular conditions
9. chromosomal conditions
10. clotting & bleeding conditions
11. cystic fibrosis
12. diabetes
13. fragile X syndrome and other causes of developmental delay
14. haemoglobinopathies
15. hereditary haemochromatosis
16. neurofibromatosis
17. neurological conditions
18. psychiatric conditions
19. genetics in practice
20. emerging genetic technologies
21. glossary

GP's role

 

1. Discuss familial risks of common psychiatric conditions.
   
2. Refer family to relevant support group (see Contacts, support and testing).

 

The schizophrenias

 

Clinical features

1. This term is used because there is likely to be a number of different conditions under the ‘umbrella’ label of schizophrenia.
   
2. Symptoms include hallucinations, delusions, paranoia, disorganisation of thoughts and feelings, and social withdrawal.
   
3. The symptoms usually appear in late adolescence or early adulthood.
   
4. Schizophrenia is a common condition with a lifetime prevalence of approximately 1%.

 

Genetics

1. Many studies have demonstrated that schizophrenia has a clear genetic component but the genetics are
   complex and poorly understood.
   
2. The risk of 1° relatives developing schizophrenia is based on empirical data (see Table 1).
   
3. No genes causing schizophrenia have been identified or characterised to date.
   
4. However, large regions of some chromosomes have been associated with schizophrenia, such as 22q11.
   
5. Genetic testing is not available.
   
6. Genetic counselling can assist in providing current information about the genetic basis of the condition to the family so that risks for the condition in other family members can be estimated correctly (see Contacts, support and testing).

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