Timing of Ketogenic Dietary Therapy (KDT) Introduction and Its Impact on Cognitive Profiles in Children with Glut1-DS—A Preliminary Study
Abstract
:1. Introduction
2. Materials and Methods
2.1. Participants
2.2. Neuropsychological Assessment
2.3. Statistical Analyses
3. Results
3.1. Cognitive Performance Profiles in Glut1DS
3.2. Correlations to KDT
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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ID Patient | Sex a | Age at Diagnosis | Mutation | CSF b/ Blood | Epilepsy | Movement Disorder | Other Symptoms f | KDT | KDT Efficacy | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Ratio | Y/N c | Type d | Y/N | Type e | Start Age | Type g | Epilepsy | Cognition | |||||
1 | F | 5 years | Mut Q304X in Ex7 (nonsense, heterozygous) | / | Y | GS | Y | D, Hy, S, A, PED | ED, SEM | 5.2 | C | Y | N |
2 | F | 1 year | c.679+2T>G (heterozygous) | 0.36 | Y | ABS | Y | D, A | OMD | 1.0 | C | Y | / |
3 | F | 8.5 year | c1199C>T (point mutation) | 0.39 | Y | ABS, GS, FS | Y | D, Hy, A, PED | H | 14.3 | C | N | Y |
4 | F | 3 years | R153L (missense, heterozygous) | 0.39 | N | / | Y | D, A, PED | / | 3.1 | C, MAD, other | / | / |
5 | F | 3 years | R153L (missense, heterozygous) | 0.37 | N | / | Y | D, A, PED | / | 3.1 | C, MAD, other | / | / |
6 | F | 2.5 years | c.26-27insT, Arg11Ser78 (frameshift, heterozygous) | 0.33 | Y | FS | Y | D, Hy, A, PED | SEM | 2.7 | C | Y | Y |
7 | F | 3.8 years | c.485T>G(p.(Leu162Arg), Ex 4 (heterozygous) | 0.39 | Y | ABS, FS | Y | D, A | ED, M | 3.8 | MAD | Y | Y |
8 | M | 6.6 years | c.138_141dupGACA, (duplicated, heterozygous) | 0.37 | Y | ABS, FS | Y | D, S, A | / | 6.6 | C | Y | N |
ID Patient | Sex a | Test | Test Date | Age at the Time of Testing | Dimensions of Intelligence: IQ-Score b | Total IQ- Score | |||
---|---|---|---|---|---|---|---|---|---|
VC | PR | WM | PS | ||||||
1 | F | WISC-IV | 29.04.16 | 13.1 | 87 | 63 | 87 | 68 | 71 |
2 | F | WISC-IV | 20.04.18 | 8.4 | 117 | 90 | 114 | 94 | 105 |
3 | F | WISC-IV | 30.09.16 | 15.5 | 50 | 45 | 50 | 50 | 40 |
4 | F | WISC-IV | 18.03.16 | 14.3 | 73 | 98 | 105 | 76 | 83 |
5 | F | WISC-IV | 18.03.16 | 14.3 | 79 | 88 | 93 | 79 | 80 |
6 | F | WISC-IV | 30.08.21 | 9.1 | 70 | / | 67 | 63 | 56 |
7 | F | WISC-IV | 16.01.20 | 7.2 | 79 | 71 | 71 | 68 | 66 |
8 | M | WISC-IV | 25.08.17 | 10.5 | 53 | 55 | 50 | 53 | 43 |
Timing of KD Introduction (Age in Years) | Duration of Treatment with KD (in Years) | IQ Total | Verbal Comprehension Index (VCI) | Perceptual Reasoning Index (PRI) | Working Memory Index (WMI) | Processing Speed Index (PSI) | |||
---|---|---|---|---|---|---|---|---|---|
Spearman’s Rho | Timing of KD introduction (age in years) | Correlation Coefficient | 1.000 | −0.663 * | −0.611 | −0.440 | −0.719 * | −0.602 | −0.749 * |
Sig. (1-tailed) | 0.037 | 0.054 | 0.138 | 0.022 | 0.057 | 0.016 | |||
Duration of treatment with KD (in years) | Correlation Coefficient | 1.000 | 0.347 | 0.078 | 0.383 | 0.361 | 0.430 | ||
Sig. (1-tailed) | 0.200 | 0.427 | 0.174 | 0.190 | 0.144 |
Timing of KD Introduction (Age in Years) | Duration of Treatment with KD (in Years) | Coding | Symbol Search | |||
---|---|---|---|---|---|---|
Spearman’s Rho | Timing of KD introduction (age in years) | Correlation Coefficient | 1.000 | −0.663 * | −0.639 * | −0.855 ** |
Sig. (1-tailed) | 0.037 | 0.044 | 0.003 | |||
Duration of treatment with KD (in years) | Correlation Coefficient | 1.000 | 0.253 | 0.624 * | ||
Sig. (1-tailed) | 0.273 | 0.049 |
Timing of KD Introduction (Age in Years) | Duration of Treatment with KD (in Years) | Block Design | Picture Concepts | Matrix Reasoning | |||
---|---|---|---|---|---|---|---|
Spearman’s Rho | Timing of KD introduction (age in years) | Correlation Coefficient | 1.000 | −0.663 * | −0.604 | −0.712 * | −0.739 * |
Sig. (1-tailed) | 0.037 | 0.056 | 0.024 | 0.018 | |||
Duration of treatment with KD (in years) | Correlation Coefficient | 1.000 | 0.252 | 0.491 | 0.533 | ||
Sig. (1-tailed) | 0.274 | 0.108 | 0.087 |
Timing of KD Introduction (Age in Years) | Duration of Treatment with KD (in Years) | Digit Span | Letter-Number Sequencing | |||
---|---|---|---|---|---|---|
Spearman’s Rho | Timing of KD introduction (age in years) | Correlation Coefficient | 1.000 | −0.663 * | −0.673 * | −0.457 |
Sig. (1-tailed) | 0.037 | 0.034 | 0.128 | |||
Duration of treatment with KD (in years) | Correlation Coefficient | 1.000 | 0.515 | 0.235 | ||
Sig. (1-tailed) | 0.096 | 0.288 |
Timing of KD Introduction (Age in Years) | Duration of Treatment with KD (in Years) | Similarities | Vocabulary | Comprehension | |||
---|---|---|---|---|---|---|---|
Spearman’s Rho | Timing of KD introduction (age in years) | Correlation Coefficient | 1.000 | −0.663 * | −0.565 | −0.424 | −0.467 |
Sig. (1-tailed) | 0.037 | 0.072 | 0.147 | 0.122 | |||
Duration of treatment with KD (in years) | Correlation Coefficient | 1.000 | 0.319 | −0.024 | 0.224 | ||
Sig. (1-tailed) | 0.221 | 0.477 | 0.297 |
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Barthold, M.; Jurkutat, A.; Goetz, R.; Schubring, L.; Spiegler, J.; Fries, A.-S.; Kiesel, L.; Klepper, J. Timing of Ketogenic Dietary Therapy (KDT) Introduction and Its Impact on Cognitive Profiles in Children with Glut1-DS—A Preliminary Study. Children 2023, 10, 681. https://doi.org/10.3390/children10040681
Barthold M, Jurkutat A, Goetz R, Schubring L, Spiegler J, Fries A-S, Kiesel L, Klepper J. Timing of Ketogenic Dietary Therapy (KDT) Introduction and Its Impact on Cognitive Profiles in Children with Glut1-DS—A Preliminary Study. Children. 2023; 10(4):681. https://doi.org/10.3390/children10040681
Chicago/Turabian StyleBarthold, Martina, Anne Jurkutat, Regina Goetz, Lucia Schubring, Juliane Spiegler, Ann-Sophie Fries, Lucia Kiesel, and Joerg Klepper. 2023. "Timing of Ketogenic Dietary Therapy (KDT) Introduction and Its Impact on Cognitive Profiles in Children with Glut1-DS—A Preliminary Study" Children 10, no. 4: 681. https://doi.org/10.3390/children10040681