Premium
Diagnosis of fragile‐X syndrome: the experiences of parents
Author(s) -
Carmichael B.,
Pembrey M.,
Turner G.,
Barnicoat A.
Publication year - 1999
Publication title -
journal of intellectual disability research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.941
H-Index - 104
eISSN - 1365-2788
pISSN - 0964-2633
DOI - 10.1046/j.1365-2788.1999.43120157.x
Subject(s) - fragile x syndrome , disadvantage , intellectual disability , psychology , psychiatry , medicine , genetic counseling , family medicine , pediatrics , biology , political science , law , genetics
In order to assess some aspects of the quality of care for families seeking the cause of their child(ren)s intellectual disability, a postal questionnaire was sent to parents of children with fragile‐X syndrome, who were members of the UK Fragile‐X Society. Although the interval taken to get a diagnosis (‘lagtime’) has fallen over time, other aspects of care could still be improved. Most families feel that having a diagnosis is an advantage, but many still find the diagnostic process distressing and feel unsupported. Not all families are referred for genetic counselling, and even those who are do not always understand or retain the information given. Most families feel that having a diagnosis is a benefit rather than a disadvantage.