“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Clinical Overview
3.2. Longitudinal Clinical History
3.2.1. Case 1
3.2.2. Case 2
3.2.3. Case 3
3.2.4. Case 4
4. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Patient No. | Patient Code | CAG Exp. | Gender M/F | Genetic Transmission | Age at Onset (Years) | Age at Diagnosis (Years) |
---|---|---|---|---|---|---|
1 | HD130 05 | 95 | F | paternal | 2 | 6 |
2 | HD379 05 | 87 | M | paternal | 4 | 7 |
3 | HD707 02 | 114 | M | paternal | 3.5 | 5 |
4 | HD636 01 | 84 | F | paternal | 2 | 6 |
Patient No. | Patient Code | Gender | CAG Exp. | Major Mother’s Pregnancy Events | Weight at Birth (gr) | Walking (First Independent Steps) | Balance (Tendency to Fall) | Speech Production (First Words) | Language Acquisition |
---|---|---|---|---|---|---|---|---|---|
1 | HD130 05 | F | 95 | Birth at term | 3000 | 18–19 months | Unstable | 24–30 months | Blurred speech |
2 | HD379 05 | M | 87 | Birth at term | 3550 | 12 months | Unstable | 10–12 months | Stuttering |
3 | HD707 02 | M | 114 | Birth at term, gestational diabetes and pregnancy hypertension | 3670 | 12 months | Ok | 12 months | Fluid language |
4 | HD636 01 | F | 84 | Birth at term, gestational diabetes | 3640 | 20–22 months | Falls | 18 months | Never fluid |
Patient No. | Patient Code | Age at Evaluation (Years) | LEITER Cognitive Level | ABAS Adaptive Functioning | PPVT Receptive Language | CY-BOCS Obsession and Compulsions | CBCL Behavior Problems—Parent(s) Report | K-SADS Behavior Problems—Health Professional’s Interview |
---|---|---|---|---|---|---|---|---|
1 | HD130 05 | 10 | IQ = 70 | IQ = 63 | IQ = 76 | 22/40 | Anxiety and affective problems | Explosive outbursts, low impulsivity control, avoidant/restrictive food intake disorder |
2 | HD379 05 | 12 | IQ = 68 | IQ = 34 | IQ < 65 | 0/40 | Social and affective problems | Explosive outbursts, low impulsivity control and attention deficit disorder |
3 | HD707 02 | 4 | IQ = 73 | IQ = 68 | IQ = 70 | 0/40 | No | Explosive outburst and social isolation |
4 | HD636 01 | 11 | NA | NA | NA | 20/40 | Anxiety, social and affective problems | Learning difficulties, explosive outbursts with hetero and auto-aggressive behavior, low impulsivity control and social isolation |
Patient No. | Patient Code | Age at the First Assay in Years (Age at Onset) | TMS at the First Assay | Age at the Last Assay (Years) | TMS at the Last Assay | Gain of TMS Units from the First to the Last Assay | Total Motor Score Units/Year from Onset Age | Age of First Epileptic Seizure (Years) |
---|---|---|---|---|---|---|---|---|
1 | HD130 05 | 7 (2) | 27 | 10 | 72 | +45 | 9 | 9 |
2 | HD379 05 | 9 (4) | 41 | 13 | 71 | +30 | 7.8 | 8 |
3 | HD707 02 | 4 (3.5) | NA | 5 | NA | NA | NA | No |
4 | HD636 01 | 8 (2) | 31 | 11 | 57 | +26 | 6.3 | 13 |
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Graziola, F.; Maffi, S.; Grasso, M.; Garone, G.; Migliore, S.; Scaricamazza, E.; Ceccarelli, C.; Casella, M.; Busi, L.; D’Alessio, B.; et al. “Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats. J. Pers. Med. 2022, 12, 120. https://doi.org/10.3390/jpm12010120
Graziola F, Maffi S, Grasso M, Garone G, Migliore S, Scaricamazza E, Ceccarelli C, Casella M, Busi L, D’Alessio B, et al. “Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats. Journal of Personalized Medicine. 2022; 12(1):120. https://doi.org/10.3390/jpm12010120
Chicago/Turabian StyleGraziola, Federica, Sabrina Maffi, Melissa Grasso, Giacomo Garone, Simone Migliore, Eugenia Scaricamazza, Consuelo Ceccarelli, Melissa Casella, Ludovica Busi, Barbara D’Alessio, and et al. 2022. "“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats" Journal of Personalized Medicine 12, no. 1: 120. https://doi.org/10.3390/jpm12010120