The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

Douzgou, Sofia; Dell'Oro, Janet; Fonseca, Cristina Rodriguez; Rei, Alessandra; Mullins, Jo; Jusiewicz, Isabelle; Huisman, Sylvia; Simpson, Brittany; Vyshka, Klea; Milani, Donatella; Bartsch, Oliver; Lacombe, Didier; García‐Miñaúr, Sixto; Hennekam, Raoul C. M.

doi:10.1038/s41431-022-01097-8

Cited by 9 publications

(25 citation statements)

References 27 publications

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“…Both authors highlighted the need for more information about long-term outcomes and follow-ups [10,11]. Binder and colleagues published a survey about 45 adult individuals with Noonan syndrome [12] and Douzgou and colleagues published a families-reported questionnaire-based study on the natural history of 87 adults with Rubinstein-Taybi syndrome [13]. Recently, our group published the first cohort of 35 adult individuals with Coffin-Siris syndrome [14].…”

Section: Overview Of Adult Syndromologymentioning

confidence: 99%

Adult syndromology: challenges, opportunities and perspectives

Schmetz,

Ballesta-Martínez,

Isidor

et al. 2024

Medizinische Genetik

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Clinical geneticists and syndromologists have traditionally focused on identifying syndromes in children. However, there is a growing acknowledgment of the need to describe adult phenotypes. This article provides an overview of the evolving phenotypes of rare genetic syndromes into adulthood, elucidating its challenges, opportunities, and future perspectives. The clinical phenotypes of four adults with Costello syndrome are described to illustrate these aspects. Phenotypic and genotypic data from four individuals broaden the spectrum of Costello syndrome in adulthood and highlight the high variability in neurocognitive outcome. The clinical data align with previous findings and established genotype-phenotype correlations. Interestingly, two individuals presented with recurrent cancers (bladder cancer and neuroblastoma). Further studies are imperative to provide reliable information for counselling and management to enable comprehensive understanding of the evolving features of rare syndromic diseases and special health issues into adulthood.

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Section: Overview Of Adult Syndromologymentioning

confidence: 99%

Adult syndromology: challenges, opportunities and perspectives

Schmetz,

Ballesta-Martínez,

Isidor

et al. 2024

Medizinische Genetik

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“…A questionnaire‐based study of 61 adults with RSTS ranging in age from 18 to 67 years found that 57% of patients developed keloids. In addition, 28 patients exhibited keloids in a series of 574 examined individuals with RSTS 66 …”

Section: Introductionmentioning

confidence: 99%

The effects of systemic diseases, genetic disorders and lifestyle on keloids

Xia,

Dohi,

Abdelhakim

et al. 2024

International Wound Journal

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Keloid are a fibroproliferative disorder caused by abnormal healing of skin, specifically reticular dermis, when subjected to pathological or inflammatory scars demonstrating redness, elevation above the skin surface, extension beyond the original wound margins and resulting in an unappealing cosmetic appearance. The severity of keloids and risk of developing keloids scars are subjected to elevation by other contributing factors such as systemic diseases, general health conditions, genetic disorders, lifestyle and natural environment. In particular, recently, daily physical work interpreted into mechanical force as well as the interplay between mechanical factors such as stress, strain and stiffness have been reported to strongly modulate the cellular behaviour of keloid formation, affect their location and shape in keloids. Herein, we review the extensive literature on the effects of these factors on keloids and the contributing predisposing mechanisms. Early understanding of these participating factors and their effects in developing keloids may raise the patient awareness in preventing keloids incidence and controlling its severity. Moreover, further studies into their association with keloids as well as considering strategies to control such factors may help clinicians to prevent keloids and widen the therapeutic options.

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“…Early studies have shown that children with RSTS have a friendly and excitable personality accompanied by hyperactivity, significant emotional dysregulation, short attention span, self-stimulating behavior, and difficulties in planning and executing motor acts ( Rubinstein & Taybi, 1963 ; Gotts & Liemohn, 1977 ). Behavioral challenges are reported consistently but at varying rates ( Boer et al, 1999 ; Galéra et al, 2009 ; Stevens et al, 2011 ; Douzgou et al, 2022 ). Difficulties in attention, social skills, and global functioning as assessed by the parent-report measure, Child Behavior Checklist (CBCL), have been previously reported in children with RSTS ages 1.5–18 years old ( Achenbach & Ruffle, 2000 ; Ajmone et al, 2018 ).…”

Section: Introductionmentioning

confidence: 99%

“…A recent study conducted by Giani et al (2022) also used the CBCL and found that anxiety is more prevalent in older children with RSTS in a survey of groups from infancy (1–2 years) to adolescence (12–17 years). Furthermore, prior reports indicate adults with RSTS may experience mood disturbances and anxious, repetitive, obsessive compulsive-like, and self-injurious behaviors ( Levitas & Reid, 1998 ; Wiley et al, 2003 ; Stevens et al, 2011 ; Douzgou et al, 2022 ). Consequently, these findings suggest behaviors reported in adults with RSTS differ compared to the sociable, friendly behavior historically reported, though in cohorts of younger children with RSTS ( Boer et al, 1999 ; Galéra et al, 2009 ; Moss et al, 2016 ).…”

Section: Introductionmentioning

confidence: 99%

Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

Qu’d,

Schmitt,

Leston

et al. 2023

Front. Genet.

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Introduction: Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder characterized by developmental and intellectual disability, broadening of thumbs and halluces, and characteristic facial features. Pathogenic variants in CREBBP lead to RSTS type 1 (RSTS1) and in EP300 lead to RSTS type 2 (RSTS2). Individuals with RSTS can demonstrate a variety of behavioral and neuropsychiatric challenges, including anxiety, hyperactivity/inattention, self-injury, repetitive behaviors, and aggression. Behavioral challenges are consistently reported as one of the primary factors impacting quality of life. Despite the high prevalence and morbidity of behavioral and neuropsychiatric features of RSTS, a paucity of data exists regarding its natural history.Methods: To better understand the neurocognitive and behavioral challenges faced by individuals with RSTS, 71 caregivers of individuals with RSTS, ranging in age from one to 61 years, completed four questionnaires measuring obsessive compulsive disorder (OCD)-like symptoms, anxiety, challenging behaviors, and adaptive behavior and living skills.Results: Results revealed a high prevalence of neuropsychiatric and behavioral challenges across ages. We found specific challenging behaviors were worse in school age individuals. Scaled adaptive behavior and living skill scores differed across ages with an increased gap between typically developing peers becoming more apparent at older ages. Between types, individuals with RSTS2 had better adaptive behavior and living skills and less stereotypic behaviors but higher social phobia than individuals with RSTS1. Further, female individuals with RSTS1 appear to have increased hyperactivity. However, both groups had impairments in adaptive functioning compared to typically developing peers.Discussion: Our findings support and expand previous reports of a high prevalence of neuropsychiatric and behavioral challenges in individuals with RSTS. However, we are the first to report differences between types of RSTS. Further, age-related differences were seen with higher challenging behaviors within school-age individuals, which may improve over time, and lower adaptive behavioral skills compared to normative scales. Anticipation of these potential differential challenges across age is vital for proactive management for individuals with RSTS. Our study underscores the importance of enacting neuropsychiatric and behavioral screening earlier in childhood so appropriate management can be implemented. However, further longitudinal studies in larger cohorts are needed to understand better how behavioral and neuropsychiatric characteristics of RSTS evolve over the lifespan and differentially affect subpopulation groups.

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The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

Cited by 9 publications

References 27 publications

Adult syndromology: challenges, opportunities and perspectives

Adult syndromology: challenges, opportunities and perspectives

The effects of systemic diseases, genetic disorders and lifestyle on keloids

Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

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