Biomedical subjects
Publications and source records attributed to F S Brimblecombe.
Services for handicapped children end when these patients become young adults. In the Exeter Health Authority district 383 disabled young adults were interviewed about their unmet needs. Many wished for advice and counselling. A quarter had not visited their general practitioner in the previous year, and two thirds of these had not had a general assessment or seen a specialist.
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A description is given of a female infant with multiple malformations and mental retardation who died at 31 months. Cytogenetic studies indicate trisomy of the complete short arm of chromosome 5, resulting from the unbalanced segregation of a balanced translocation in the mother whose karyotype was interpreted as 46,XX,t(5; 15)(p11; p12). The karyotype of the proband was designated 46,XX, der(5)t(5; 15)(p11; p12)mat. Family studies indicate that the translocation has been present in the family for at least 6 generations.
A project in Exeter has tried to increase the contribution of the paediatric department of a district general hospital to the long-term care, support, and treatment of handicapped children and their families. They include an infant care unit, day units for handicapped children, and holiday projects, and are based on close links with the educational and social services. The availability of such a family support unit may diminish the strain on the families of handicapped children and help them to maintain normal family and social relationships.
In a recent outbreak of 31 cases of meningococcal disease in Devon there were six deaths. Several patients had an unusual rash as the presenting feature and there was an unusually high incidence of complications, affecting the central nervous system, joints, and the heart among other sites.
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