RESUMO
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.
Assuntos
Proteína de Ligação a CREB , Proteína p300 Associada a E1A , Síndrome de Rubinstein-Taybi , Síndrome de Rubinstein-Taybi/genética , Síndrome de Rubinstein-Taybi/diagnóstico , Síndrome de Rubinstein-Taybi/terapia , Humanos , Proteína de Ligação a CREB/genética , Proteína p300 Associada a E1A/genética , Consenso , Gerenciamento Clínico , MutaçãoRESUMO
This web-based survey of 311 respondents from 25 countries provides additional information about the early presentation of Rubinstein-Taybi syndrome. Most (86%) infants present during the neonatal period, with 69% of these within 24 hours of life. Prolonged hospital stay is common (61%).
Assuntos
Síndrome de Rubinstein-Taybi , Humanos , Lactente , Recém-Nascido , Síndrome de Rubinstein-Taybi/complicações , Síndrome de Rubinstein-Taybi/diagnósticoRESUMO
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder characterized by variable degrees of intellectual disability, an unusual face, distal limb anomalies including broad thumbs and broad halluces, a large group of variable other major and minor anomalies, and decreased somatic growth. The aim of the present study was to construct up-to-date growth charts specific for infants and children with RSTS. We collected retrospective growth data of 92 RSTS individuals of different ancestries. Data were corrected for secular trends and population of origin to the Dutch growth charts of 2009. On average, 17.9 measurements were available per individual. Height, weight and body mass index (BMI) references for males and females were constructed using the lambda, mu, sigma method. RSTS individuals had normal birth weight and length. Mean final heights were 162.6 cm [-2.99 standard deviation score (SDS)] for males and 151.0 cm [-3.01 SDS] for females. BMI SDS compared to the general Dutch population were -0.06 and 1.40 SDS for males and females, respectively. Head circumference SDS compared to the general Dutch population was -1.89 SDS for males and -2.71 SDS for females. This is the first study to publish growth charts using only molecularly proven RSTS individuals. These syndrome-specific growth charts can be used in managing problems related to growth in RSTS individuals.
