Characterization, treatment patterns, and patient-related outcomes of patients with Fragile X syndrome in Germany: final results of the observational EXPLAIN-FXS study

Table 1 Characteristics of patients with FXS and their family members

Number of patients: Characteristic	≤13 years	14-17 years	18+ years	Total (all patients)
Number of patients: Characteristic	40	11	24	75
Age, years	7.7 ± 3.1	15.3 ± 1.1	32.2 ± 16.4	16.7 ± 14.5
Age, years	range, 2-13	range, 14-17	range, 18-82	range, 2-82
Impaired intelligence	38 (95.0 %)	11 (100.0 %)	24 (100.0 %)	73 (97.4 %)
Sex
Males	35 (87.5 %)	8 (72.7 %)	20 (83.3 %)	63 (84.0 %)
Females	5 (12.5 %)	3 (27.3 %)	4 (16.7 %)	12 (16.0 %)
Siblings
Males	23 (53.5 %)	10 (58.8 %)	16 (47.1 %)	49 (52.1 %)
Females	20 (46.5 %)	7 (41.2 %)	18 (52.9 %)	45 (47.9 %)
Age of siblings in years	8.9 ± 6.2	15.7 ± 7.9	32.6 ± 21.7	18.4 ± 17.5
Age of siblings in years	range, 0-26	range, 1-27	range, 1-85	range, 0-85
Siblings with FXS (genetically validated)	14 (32.6 %)	7 (41.2 %)	19 (55.9 %)	40 (42.6 %)
Other family members with FXS	11 (27.5 %)	5 (45.5 %)	17 (70.8 %)	33 (44.0 %)
Main caregiver: patients living with parent(s)	38 (95.0 %)	9 (81.8 %)	15 (62.5 %)	62 (82.7 %)

Values shown are means ± standard deviation or n (%). Impaired intelligence was determined based on school performance, academic achievement, and IQ tests. Attendance at a school for children with special needs was a major criterion for impaired intelligence. Psychometric tests used at the first visit were: the Snijders-Oomen Test (10 patients); the HAWIK/HAWIE-R (8 patients): the Kaufmann Test K-ABC (5 patients); other (not specified) tests (10 patients)

ISSN: 1471-244X