| Literature DB >> 32894175 |
Mendy M Welsink-Karssies1, Kim J Oostrom2, Merel E Hermans3, Carla E M Hollak4, Mirian C H Janssen5, Janneke G Langendonk6, Esmee Oussoren7, M Estela Rubio Gozalbo8, Maaike de Vries9, Gert J Geurtsen3, Annet M Bosch10.
Abstract
An amendment to this paper has been published and can be accessed via the original article.Entities:
Year: 2020 PMID: 32894175 PMCID: PMC7487470 DOI: 10.1186/s13023-020-01447-z
Source DB: PubMed Journal: Orphanet J Rare Dis ISSN: 1750-1172 Impact factor: 4.123
Cognitive Functioning Results
| Domain | Results patients | FSIQ 50–69 (Group 1) | FSIQ 70–85 | FSIQ > 85 | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Learning & Memory | ||||||||||
| - AVLT Immediate Recall | 19 | 46.0 (9–61) | 4 | 40.0 (9–46) | 11 | 45.00 (35–61) | 4 | 49.50 (47–51) | 0.121 | |
| - AVLT Delayed Recall | 19 | 46.0 (15–65) | 0.545 | 4 | 49.5 (15–58) | 11 | 46.00 (34–65) | 4 | 50.00 (43–55) | 0.956 |
| - AVLT Delayed / Immediate | 19 | 52.0 (38–65) | 0.445 | 4 | 55.5 (43–62) | 11 | 52.00 (38–65) | 4 | 52.00 (39–62) | 0.803 |
| - Digit span | 35 | 43.0 (20–63) | 8 | 30.00 (20–57) | 15 | 43.00 (27–60) | 12 | 48.50 (33–63) | ||
| Visuospatial functioning | ||||||||||
| - GIT-2a spatial test | 19 | 36.0 (23–50) | 4 | 26.5 (23–40) | 11 | 35.0 (28–40) | 4 | 41.5 (40–50) | ||
| - Block design | 42 | 38.5 (20–53) | 9 | 30.0 (20–40) | 17 | 37.0 (27–50) | 16 | 37.0 (33–53) | ||
| Executive functioning | ||||||||||
| - Stroop III (Inhibition) | 25 | 45.0 (20–56) | 6 | 27.0 (20–49) | 13 | 48.00 (22–56) | 6 | 46.0 (35–53) | 0.078 | |
| - Stroop III/II (Interference) | 25 | 49.0 (30–66) | 0.537 | 6 | 43.0 (30–60) | 13 | 50.00 (31–66) | 6 | 47.5 (40–63) | 0.642 |
| - WCST Total number of errors | 24 | 50.5 (27–67) | 0.988 | 6 | 46.0 (27–50) | 12 | 51.50 (37–67) | 6 | 52.0 (39–64) | 0.134 |
| - WCST Perseverative responses | 24 | 51.0 (30–81) | 0.626 | 6 | 46.0 (33–52) | 12 | 53.00 (30–81) | 6 | 52.0 (35–73) | 0.278 |
| - WCST Percent conceptual level responses | 24 | 49.5 (27–64) | 0.951 | 6 | 48.0 (27–51) | 12 | 52.00 (39–64) | 6 | 51.0 (37–62) | 0.270 |
| - TMT B/A | 25 | 44.0 (27–57) | 6 | 45.0 (27–50) | 13 | 43.00 (27–57) | 6 | 48.5 (40–57) | 0.510 | |
| - Letter fluency | 19 | 37.0 (27–67) | 4 | 31.0 (28–38) | 11 | 39.00 (31–67) | 4 | 34.0 (27–56) | 0.143 | |
| Mental Speed | ||||||||||
| - Stroop I (Color naming) | 25 | 40.0 (25–61) | 6 | 35.0 (25–43) | 13 | 43.00 (35–61) | 6 | 46.5 (33–55) | 0.077 | |
| - Stroop II (Word reading) | 25 | 37.0 (20–56) | 6 | 30.0 (20–40) | 13 | 43.00 (20–56) | 6 | 39.0 (33–56) | 0.063 | |
| - TMT A (Digit sequencing) | 25 | 52.0 (20–67) | 6 | 50.5 (20–59) | 13 | 56.00 (43–67) | 6 | 47.5 (33–67) | 0.173 | |
| - TMT B (Digit-Letter-Switching) | 25 | 45.0 (20–58) | 6 | 33.5 (20–47) | 13 | 46.00 (20–58) | 6 | 45.0 (33–56) | 0.111 | |
| - Symbol search | 41 | 43.0 (20–67) | 9 | 23.0 (20–50) | 17 | 40.00 (27–67) | 15 | 47.0 (40–60) | ||
| - Substitution | 42 | 40.0 (23–57) | 9 | 30.0 (23–47) | 17 | 40.00 (30–57) | 16 | 43.0 (33–53) | ||
Data reported in T-scores, median (ranges). a Patient data vs. normative data (T-score 50), b Comparison between FSIQ groups, Significant after Bonferroni-Holm correction. FSIQ full scale IQ, AVLT auditory verbal learning test, GIT-II groninger intelligentie test 2, Stroop stroop color word test, WCST wisconsin card sorting test, TMT trail making test
Individual Results, Adult Patients
ap.Ser135Leu homozygous patient. VIQ Verbal IQ, PIQ Performal IQ, FSIQ Full Scale IQ, Stroop Stroop Color Word Test, WCST Wisconsin Card Sorting Test, PR Perseverative Responses, CLR Conceptual Level Responses, TMT Trail Making Test, AVLT Auditory Verbal Learning Test, GIT-II Groninger Intelligentie Test 2, HADS Hospital Anxiety and Depression Scale, BRIEF Behavior Rating Inventory of Executive Function, SRS Social Responsiveness Scale
X no test result, ■ test result worse than expected, test result better than expected, □ test result as expected
*X no result, - - T-score on total scale in clinical range, - T-score on total scale in subclinical range, □ T-score on total scale within normal range
Individual Results, Pediatric Patients
ap.Ser135Leu homozygous patient, b Variant patient, VIQ Verbal IQ, PIQ Performal IQ, FSIQ Full Scale IQ, NI NEPSY Inhibition, Stroop Stroop Color Word Test, RS Response Set, AA Auditory Attention, WCST Wisconsin Card Sorting Test, PR Perseverative responses, CLR Conceptual Level Responses, TMT Trail Making Test, AVLT Auditory Verbal Learning Test, TCT Total Completion Time, GIT-II Groninger Intelligentie Test 2, CBCL 6–18y Child Behavior Checklist 6–18 years, YSR Youth Self Report, BRIEF Behavior Rating Inventory of Executive Function, SRS Social Responsiveness Scale
X no test result, ■ test result worse than expected, test result better than expected, □ test result as expected
*X no result, - - T-score on total scale in clinical range, - T-score on total scale in subclinical range, □ T-score on total scale within normal range