Rubinstein–Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning
Abstract
:1. Introduction
2. Materials and Methods
2.1. Setting
2.2. Study Sample
2.3. Clinical Characteristics of the Prenatal and Perinatal Period of the Study Children
2.4. Instruments
2.5. The Pediatric Impact Module PedsQLTM 2.0–PedsQLTM–FIM
2.6. The Pediatric Quality of Life PedsQLTM 4.0
2.7. Statistical Analysis
3. Results
3.1. QOL of Children with Rsts
3.2. The Family Impact—Pedsqltm–Fim
4. Discussion
4.1. Limitations
4.2. Therapeutic Recommendations for Children with Rubinstein–Taybi Syndrome
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Gene | CREBBP | CREBBP | CREBBP | CREBBP | EP300 | EP300 | EP300 | EP300 | CREBBP | CREBBP | CREBBP | CREBBP | CREBBP |
Diagnosis | 18th day | 3 years | 1 year | 2 years | 4 years | 1 year | 2 months | 5 years | 1 year | 2 years | 5 years | 4 years | 2.5 years |
Current age | 7 years | 5 years | 11 years | 3 years | 9 years | 7 years | 11 years | 17 years | 4 years | 7 years | 5 years | 4 years | 13 years |
Child’s weight | 25–50th centile | 3rd centile | 50–75th centile | below the 3rd centile | 10th centile | below the 3rd centile | 90–97th centile | below the 3rd centile | 50–70th centile | 50–75th centile | 25–50th centile | 10–25th centile | below the 3rd centile |
Child’s height | 3rd–10th centile | 3rd–10th centile | 25th centile | below the 3rd centile | 10–25th centile | below the 3rd centile | 3rd–10th centile | below the 3rd centile | 10–25th centile | below the 3rd centile | 3rd centile | 90th centile | below the 3rd centile |
BMI | 16.9 normal | 13.6 underweight | 19.8 normal | 13.2 underweight | 14.6 underweight | 13.3 underweight | 31.4 obesity | 18.4 normal | 17.1 overweight | 19.6 overweight | 17 normal | 12.4 underweight | 17.8 normal |
Child’s head circumference | below the 3rd centile | below the 3rd centile | below the 3rd centile | 10th centile | below the 3rd centile | above the 99th centile | - | 23rd centile | 25–50th centile | 7th centile | 25–50th centile | 25–50th centile | 62nd centile |
Prenatal course | NAD | NAD | NAD | abnormal foetal size | NAD | NAD | NAD | NAD | NAD | abnormal amniotic fluid volume, pregnancy at risk of miscarriage | pregnancy at risk of miscarriage | NAD | NAD |
HBD | 39 weeks | 36 weeks | 40 weeks | 36 weeks | 36 weeks | 35 weeks | 39 weeks | 39 weeks | 40 weeks | 38 weeks | 39 weeks | 36 weeks | 36 weeks |
Birth weight (g) | 10–50th centile | 50th centile | 10th centile | 10–50th centile | 50th centile | 50th centile | below the 3rd centile | 3rd centile | 10th centile | 10–50th centile | below the 3rd centile | 50th centile | 50th centile |
Postpartum period | jaundice, pneumonia, feeding problems | hypoxia, respiratory distress syndrome, pneumonia, feeding problems | hypoxia | feeding problems | jaundice, feeding problems | respiratory distress syndrome, vascular ring, feeding problems | feeding problems, reflux | hypoxia, pneumonia, one lung was not functioning, feeding problems | genital defects, feeding problems | jaundice, feeding problems | feeding problems | second superior vena cava, feeding problems | pneumonia, feeding problems |
Motor development | delayed | delayed | delayed | delayed | delayed | delayed | delayed | delayed | delayed | delayed | delayed | delayed | delayed |
Speech development | normal | lack of speech development | lack of speech development | - | normal | delayed | delayed | normal | lack of speech development | normal | normal | delayed | delayed |
Intellectual disability | moderate | moderate | moderate | moderate | moderate | moderate | significant | moderate | moderate | moderate | mild | mild | moderate |
Typical facial dysmorphic features | + | + | + | + | + | + | + | + | + | + | + | + | + |
Typical dysmorphic limb features–hands, fingers (including thumbs) and feet | + | + | + | + | + | + | + | + | + | + | + | - | + |
Typical behavioral phenotype | + | + | - | + | + | + | + | + | + | + | + | + | + |
Hearing | bilateral impairment | bilateral impairment | - | - | - | - | - | - | - | - | - | bilateral hearing impairment | - |
Eyesight | astigmatism, myopia | astigmatism, esotropia | hyperopia | strabismus, myopia | - | astigmatism, hyperopia | - | astigmatism, hyperopia | esotropia, astigmatism | hyperopia | - | optic nerve hypoplasia | astigmatism, esotropia, hyperopia |
Keloid formation | + | + | - | - | - | - | + | - | - | - | - | + | - |
Genital abnormalities | - | + | - | + | - | - | + | - | + | + | - | - | - |
Kidney defects | + | - | - | - | - | - | - | - | - | - | - | - | - |
Heart defects | + | + | - | - | - | - | - | - | - | - | - | + | - |
Short stature | - | - | + | + | - | + | + | - | + | + | + | - | + |
Abnormalities of hands, including thumbs | + | + | - | + | - | + | + | + | - | + | + | - | + |
Abnormalities of feet, including halluces | + | + | - | - | - | + | + | + | - | + | + | - | - |
Occlusal abnormalities/dental anomalies | - | + | + | + | + | + | - | + | + | + | + | + | - |
Brain MRI scan | hypoplasia of the P1 segment of the left posterior cerebral artery | NAD | NAD | NAD | small non-specific subcortical hyperintense focus in the posterior right parietal lobe | NAD | NAD | NAD | NAD | NAD | delayed white matter myelination | underdevelopment of optic nerves and the optic chiasm, underdevelopment of the corpus callosum | hypoplasia of the cerebellar vermis, cysts |
PedsQL | N | Mean | SD | Median | Min. | Max. | Q1 | Q3 |
---|---|---|---|---|---|---|---|---|
PF | 13 | 48.56 | 16.32 | 50.00 | 18.75 | 78.13 | 37.50 | 56.25 |
EF | 13 | 59.23 | 18.69 | 60.00 | 25.00 | 100.00 | 50.00 | 70.00 |
SF | 13 | 48.85 | 18.84 | 45.00 | 20.00 | 85.00 | 40.00 | 60.00 |
SCHF | 12 | 50.74 | 17.68 | 50.00 | 20.00 | 85.00 | 40.15 | 61.25 |
PSF | 13 | 53.31 | 14.44 | 53.33 | 28.33 | 78.33 | 46.67 | 61.67 |
Total QoL score | 13 | 52.40 | 13.01 | 51.41 | 29.84 | 71.25 | 45.24 | 61.88 |
PedsQL | Pearson’s Coefficient | p * |
---|---|---|
Child’s total QoL score | −2.0185 | 0.0343 |
Total impact score (PedsQL Family Impact Module) | −0.76871 | 0.2291 |
PedsQL | p * |
---|---|
Child’s total QoL score | 0.001582 |
Total impact score (PedsQL Family Impact Module) | 0.1764 |
PedsQL-Family Impact | ||||||||
---|---|---|---|---|---|---|---|---|
Module | n | Mean | SD | Median | Min. | Max. | Q1 | Q3 |
PF | 13 | 44.55 | 15.44 | 45.83 | 16.67 | 70.83 | 33.33 | 54.17 |
EF | 13 | 46.54 | 14.05 | 45.00 | 20.00 | 70.00 | 40.00 | 55.00 |
SF | 13 | 52.40 | 20.50 | 56.25 | 18.75 | 93.75 | 43.75 | 68.75 |
CF | 13 | 64.23 | 23.70 | 65.00 | 25.00 | 100.00 | 45.00 | 75.00 |
C | 13 | 52.56 | 14.98 | 58.33 | 25.00 | 75.00 | 41.67 | 58.33 |
W | 13 | 37.69 | 18.55 | 30.00 | 10.00 | 65.00 | 25.00 | 50.00 |
DA | 13 | 41.03 | 17.17 | 41.67 | 16.67 | 75.00 | 25.00 | 50.00 |
FR | 13 | 60.00 | 12.91 | 60.00 | 40.00 | 85.00 | 55.00 | 65.00 |
Parent QoL | 13 | 51.54 | 13.46 | 50.00 | 30.00 | 75.00 | 42.50 | 65.00 |
FF | 13 | 52.88 | 11.93 | 56.25 | 34.38 | 75.00 | 43.75 | 59.38 |
Total impact score | 13 | 50.00 | 10.91 | 51.39 | 31.25 | 68.75 | 42.36 | 56.25 |
PedsQL | r | p * |
---|---|---|
Child’s total QoL score | −0.2964997 | 0.1626 |
Total impact score (PedsQL FIM) | 0.4076871 | 0.08336 |
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Rozensztrauch, A.; Basiak, A.; Twardak, I. Rubinstein–Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning. J. Clin. Med. 2024, 13, 5210. https://doi.org/10.3390/jcm13175210
Rozensztrauch A, Basiak A, Twardak I. Rubinstein–Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning. Journal of Clinical Medicine. 2024; 13(17):5210. https://doi.org/10.3390/jcm13175210
Chicago/Turabian StyleRozensztrauch, Anna, Aleksander Basiak, and Iwona Twardak. 2024. "Rubinstein–Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning" Journal of Clinical Medicine 13, no. 17: 5210. https://doi.org/10.3390/jcm13175210