title: [Family experiences with the diagnosis of fragile X syndrome--results of a retrospective parental survey].
abstract: Family X syndrome is the second most common inherited form of mental retardation. The suspected diagnosis is made on a characteristic behavioral phenotype and confirmed by genetic analysis. In a retrospective survey, 57 parents report on the process of diagnosis. The mean age of diagnosed children was 4;8 years. A majority of two thirds of parents stated that knowledge of the cause of the disorder was important to them. At the same time many parents felt the process was insensitive and missed specific information on developmental perspectives for their children. Most say they benefited from the national parent self-help group as an important resource of support. Conclusions for professional support for parents are discussed.
authors.affiliation: Pädagogische Hochschule Heidelberg, Heidelberg.
authors.forename: Julia
authors.initials: J
authors.lastname: Lessmann
authors.forename: Klaus
authors.initials: K
authors.lastname: Sarimski
mesh_terms: D000223:Adaptation, Psychological; D000293:Adolescent; D000328:Adult; D001290:Attitude; D002648:Child; D002675:Child, Preschool; D003258:Consumer Behavior; D003625:Data Collection; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology*; D005817:Genetic Counseling / Q000523:psychology; D005858:Germany; D006801:Humans; D008297:Male; D010290:Parents / Q000193:education / Q000523:psychology*; D011368:Professional-Family Relations; D011379:Prognosis; D012189:Retrospective Studies; D012657:Self-Help Groups; D012917:Social Adjustment; D011795:Surveys and Questionnaires; D055815:Young Adult