Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome

Abstract

Research regarding the behavioral aspects of children with Rubinstein-Taybi syndrome (RTS) has suggested some possible behavioral patterns including autistic features. Caregivers of 39 children (mean age = 8.4 years) with RTS (49% showing abnormality in CREBBP gene) and 39 children (mean age = 8.6 years) matched on developmental level, age and gender were administered the Child Behavior Checklist and the Children's Social Behavior Questionnaire. Children with RTS did not exhibit higher internalizing (affective and anxiety symptoms) or externalizing (disruptive symptoms) behavioral problems than expected for their age/developmental range. However, they displayed some specific behaviors: short attention span, motor stereotypies, poor coordination, and overweight. The presence of an identified CREBBP gene abnormality was possibly related to the motor difficulties through impaired motor skills learning.

Repetitive Behavior in Rubinstein–Taybi Syndrome: Parallels with Autism Spectrum Phenomenology

“…Over 75 % were reported to insist on sameness. Recently, Galéra et al (2009) reported higher rates of repetitive motor movements in contrast to a heterogeneous intellectual disability group; however, because this study did not contain syndrome specific comparison groups, conclusions cannot be drawn about how these repetitive behaviors compare to behaviors observed in other syndromes. A systematic cross syndrome approach to studying repetitive behavior in RTS is absent from the literature.…”

“…Individuals with RTS could present with a dissociation of ASD characteristics: repetitive behavior without, or with fewer, social-communication impairments. This is because people with RTS may have fewer social deficits than individuals with ASD as parents often describe RTS children as friendly, particularly around adults (Goots and Liemohn 1977;Baxter and Beer 1992;Stevens et al 1990), and reports suggest a greater degree of sociability in RTS relative to controls (Galéra et al 2009;Nelson 2010). While, social behavior is not the main focus of this study, correlational analyses exploring the link between repetitive behavior, social-communication deficits, and degree of disability will be conducted to explore the factors associated with the repetitive behavior profile of RTS.…”

Developmental Profile and Diagnoses in Children Presenting with Motor Stereotypies

“…Sixty percent of neurologically typical children show some stereotypic movements or behaviors between 2 and 5 years (8, 9). Besides the physiological ones, stereotypies are a main symptom of several developmental disorders, such as autistic spectrum disorder (ASD), intellectual disabilities (ID), genetic syndromes (Rett syndrome, Lesch–Nyhan syndrome, X-fragile syndrome, and others), and are also reported in sensory impaired individuals (10–12). In particular, stereotypies, together with other restricted, repetitive patterns of behavior, interest, or activities, represent a core symptom of ASD (13).…”

An Attempt to rehabilitate a Case of Rubinstein–Taybi Syndrome: A Rare Disorder

“…The abnormality in CREB BP gene is probably related to the impaired motor skills learning. 3,8 On application of the CARS, we found autistic behavior in the index case. Sensory processing dysfunction, especially tactile sensitivity, is commonly found in autism.…”