Rubinstein-Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning

Overview

Journal J Clin Med

Specialty General Medicine

Date 2024 Sep 14

PMID 39274423

Authors

Anna Rozensztrauch

Aleksander Basiak

Iwona Twardak

Affiliations

Soon will be listed here.

Abstract

: Rubinstein-Taybi Syndrome (RSTS-OMIM, #180849) is a rare genetic disorder associated with distinctive clinical features, including a typical craniofacial appearance, global developmental delay, intellectual disability and broad, angular thumbs and fingers. The main aim of the study was to evaluate the health problems of children with RTST, their quality of life and the impact of the disease on family functioning. In addition, we investigate whether comorbidities, autistic behavior and eating problems affect the children's overall QOL. : A cross-sectional study was performed, including a total of 13 caregivers of children diagnosed with RSTS. A self-reported questionnaire [SRQ], medical records and the Pediatric Impact Module PedsQL 2.0, the Pediatric Quality of Life PedsQL 4.0 were used to obtain data on QOL and the impact of the disease on family functioning. : The overall QOL score for children with RSTS was x = 52.40; SD 13.01. The highest QOL was in emotional functioning (EF; x = 59.23; SD 18.69), while the lowest QOL was in physical functioning (PF; x = 48.56; SD 16.32) and social functioning (SF; x = 48.85; SD 18.84). There was a statistically significant negative correlation ( < 0.03; r = -2.01) between the age of the child and their QOL, indicating that older children had lower QOL scores. The mean overall rating for the impact of RSTS on family functioning was x = 50.00; SD 10.91. Caregivers reported the highest scores for cognitive functioning (CF; x = 64.23; SD 23.70) and family relationships (FR; x = 60.00; SD 17.17). The lowest scores were for daily activities (DA; x = 41.03; SD 17.17) and worry (W; x = 37.69; SD 18.55). : This study provides the first comprehensive exploration of the QOL of children with RSTS) and its impact on family functioning.

References

Roelfsema J, White S, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F . Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005; 76(4):572-80. PMC: 1199295. DOI: 10.1086/429130. View

Miller R, Rubinstein J . Tumors in Rubinstein-Taybi syndrome. Am J Med Genet. 1995; 56(1):112-5. DOI: 10.1002/ajmg.1320560125. View

Ogryzko V, Schiltz R, Russanova V, Howard B, Nakatani Y . The transcriptional coactivators p300 and CBP are histone acetyltransferases. Cell. 1996; 87(5):953-9. DOI: 10.1016/s0092-8674(00)82001-2. View

GOODFELLOW A, Emmerson R, Calvert H . Rubinstein-Taybi syndrome and spontaneous keloids. Clin Exp Dermatol. 1980; 5(3):369-70. DOI: 10.1111/j.1365-2230.1980.tb01718.x. View

Varni J, Burwinkle T, Seid M, Skarr D . The PedsQL 4.0 as a pediatric population health measure: feasibility, reliability, and validity. Ambul Pediatr. 2003; 3(6):329-41. DOI: 10.1367/1539-4409(2003)003<0329:tpaapp>2.0.co;2. View

Petrij F, Giles R, Dauwerse H, Saris J, Hennekam R, Masuno M . Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature. 1995; 376(6538):348-51. DOI: 10.1038/376348a0. View

Hennekam R, van den Boogaard M, Sibbles B, van Spijker H . Rubinstein-Taybi syndrome in The Netherlands. Am J Med Genet Suppl. 1990; 6:17-29. DOI: 10.1002/ajmg.1320370604. View

Masuno M, Imaizumi K, Kurosawa K, Makita Y, Petrij F, Dauwerse H . Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome. Am J Med Genet. 1994; 53(4):352-4. DOI: 10.1002/ajmg.1320530409. View

Tigere B, Makhubele J . The experiences of parents of children living with disabilities at Lehlaba Protective Workshop in Sekhukhune district of Limpopo province. Afr J Disabil. 2019; 8(0):528. PMC: 6779969. DOI: 10.4102/ajod.v8i0.528. View

10.

Cohen J, Schrier Vergano S, Mazzola S, Strong A, Keena B, McDougall C . EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients. Am J Med Genet A. 2020; 182(12):2926-2938. DOI: 10.1002/ajmg.a.61883. View

11.

Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour C, Arveiler B . Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. Am J Med Genet A. 2016; 170(12):3069-3082. DOI: 10.1002/ajmg.a.37940. View

12.

Waite J, Moss J, Beck S, Richards C, Nelson L, Arron K . Repetitive behavior in Rubinstein-Taybi syndrome: parallels with autism spectrum phenomenology. J Autism Dev Disord. 2014; 45(5):1238-53. DOI: 10.1007/s10803-014-2283-7. View

13.

Crawford H, Waite J, Oliver C . Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes. J Autism Dev Disord. 2017; 47(12):3728-3740. PMC: 5676833. DOI: 10.1007/s10803-016-3015-y. View

14.

PADFIELD C, Partington M, Simpson N . The Rubinstein-Taybi syndrome. Arch Dis Child. 1968; 43(227):94-101. PMC: 2019897. DOI: 10.1136/adc.43.227.94. View

15.

Mori Y, Downs J, Wong K, Anderson B, Epstein A, Leonard H . Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life. Orphanet J Rare Dis. 2017; 12(1):16. PMC: 5248472. DOI: 10.1186/s13023-016-0563-3. View

16.

Grunow J . Gastroesophageal reflux in Rubinstein--Taybi syndrome. J Pediatr Gastroenterol Nutr. 1982; 1(2):273-4. DOI: 10.1097/00005176-198201020-00019. View

17.

Stevens C, Bhakta M . Cardiac abnormalities in the Rubinstein-Taybi syndrome. Am J Med Genet. 1995; 59(3):346-8. DOI: 10.1002/ajmg.1320590313. View

18.

Awan N, Pearson E, Shelley L, Greenhill C, Tarver J, Waite J . The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature. Am J Med Genet A. 2022; 188(9):2536-2554. PMC: 9542155. DOI: 10.1002/ajmg.a.62867. View

19.

Verhoeven W, Tuinier S, Kuijpers H, Egger J, Brunner H . Psychiatric profile in rubinstein-taybi syndrome. A review and case report. Psychopathology. 2009; 43(1):63-8. DOI: 10.1159/000260045. View

20.

Qud D, Schmitt L, Leston A, Harris J, Slavotinek A, Riddle I . Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome. Front Genet. 2023; 14:1116919. PMC: 10321757. DOI: 10.3389/fgene.2023.1116919. View