Speech-language characteristics of children with Sotos syndrome

Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska 68198-5450, USA.
American Journal of Medical Genetics Part A (Impact Factor: 2.16). 08/2005; 136A(4):363-7. DOI: 10.1002/ajmg.a.30799
Source: PubMed


The purpose of this research study was to evaluate the communication of individuals with Sotos syndrome in order to better characterize common speech and language patterns. Sixteen children with Sotos syndrome received an in-depth communication assessment using standardized procedures. Assessments of speech skills, language skills, voice, fluency, and social-pragmatic interactions were completed. Results of the evaluations indicated that individuals with Sotos syndrome are prone to: (a) language impairments (particularly expressive), (b) speech sound production impairments, (c) voice impairments, (d) dysfluencies (stuttering), and (e) average social-behavioral pragmatic interaction characteristics.

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    • "Studies investigating communication and language skills in Sotos syndrome indicate characteristic difficulties in speech articulation including delayed or no speech development (Compton et al, 2004; Morrow et al., 1990; Okamoto, 2010) and limited expressive language (Bale et al., 1985; Mauceri et al., 2000; Mourisden & Hansen, 2002). The most extensive cohort study by Ball et al. (2005) reported that individuals with Sotos syndrome showed greater impairments in expressive and receptive language compared to the normative sample. In contrast, two cohort studies (Finegan et al., 1994; Sarimski, 2003) found there to be no deficits in language. "
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    ABSTRACT: In this study we describe the levels of clinically significant behavior in participants with Sotos syndrome relative to three matched contrast groups in which the behavioral phenotype is well documented (Autism Spectrum Disorder, ASD; Prader-Willi, and Down syndromes). Parents and carers of 38 individuals with Sotos syndrome (mean age = 17.3; SD = 9.36), completed questionnaires regarding self-injury, aggression, repetitive behavior, autism spectrum phenomenology, overactivity, impulsivity and mood, interest and pleasure. Individuals with Sotos syndrome showed an increased risk of self-injurious behavior, physical aggression, and destruction of property relative to the Down syndrome group but not a greater risk of stereotyped behavior. Impulsivity and levels of activity were also significantly higher relative to those with Down syndrome and comparable to those with ASD. A large proportion of participants met the cut off score for ASD (70.3%) and Autism (32.4%) on the Social Communication Questionnaire. Social impairments were particularly prominent with repetitive behavior and communication impairments less characteristic of the syndrome. Interestingly, preference for routine and repetitive language were heightened in individuals with Sotos syndrome and the repetitive behavior profile was strikingly similar to that observed in individuals with Prader-Willi syndrome. These findings build upon previous research and provide further evidence of the behavioral phenotype associated with Sotos syndrome. © 2015 Wiley Periodicals, Inc.
    Full-text · Article · Sep 2015 · American Journal of Medical Genetics Part A
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    ABSTRACT: Resumen Los Trastornos Generalizados del Desarrollo se expresan con compromiso en la socialización, trastorno en el desarrollo del lenguaje (verbal y no verbal) e intereses restringidos con conductas repetitivas. La frecuencia estimada en la población general es de 27.5/10.000. En nuestro trabajo analizamos los aspectos clínicos y genéticos de los TGD: Autismo, Síndrome de Asperger, TGD no Especificado, Síndrome de Rett y Trastorno desintegrativo de la niñez. Desde el punto de vista clínico jerarquizamos los aspectos conductuales para su reconocimiento. En los aspectos genéticos puntualizamos diversas entidades con las que se asocian consistentemente estos trastornos, denominados cuadros sindrómicos, (aproximadamente el 20% de los casos) y las bases genéticas actualmente propuestas para el 80% restante o formas no sindrómicas. El reconocimien-to temprano de estos trastornos del desarrollo y el diagnóstico de una entidad específica asociada permiten un temprano y adecuado abordaje terapéutico, un correcto asesoramiento genético y un control evolutivo específi-co previendo posibles complicaciones relacionadas a la entidad de base. Finalmente, si bien las bases genéticas del autismo no están identificadas se han propuesto diversos genes candidatos ubicados en los cromosomas: 15q, 2q, 17q, 7q, 12q, y los relacionados al X, entre otros, los que son analizados en este trabajo y permitirán en un futuro cercano comprender mejor estos trastornos. Palabras clave: autismo, síndrome de Asperger, síndrome de Rett, trastorno desintegrativo de la niñez Abstract Pervasive developmental disorders. Clinical and genetics aspects. Pervasive developmental disorders (PDD) encompass a heterogeneous group of children with deficits of verbal and non-ver-bal language, social communication, and with a restricted repertoire of activities or repetitive behaviours. The frequency in general population is considered 27.5/10,000. In this study, we analyzed the clinical and genetic aspects of Autism, Asperger Syndrome, PDD Not Otherwise Specified, Rett Syndrome and Childhood Disintegrative Disorder. We analyzed clinical, behavioural and neuropsychological features. We revised different medical genetics associated conditions and divided the genetics aspects of pervasive developmental disorders into two groups: Syndromic forms (around 20%) and non syndromic forms (currently proposed to be 80%). The early recognition of pervasive developmental disorders and the diagnosis of specific associated syndromes allow early therapy, correct genetic counselling, and follow up anticipating possible complications related to the entity. Finally, although the genetic bases of autism have not yet been identified, the following candidate genes have been proposed: 15q, 2q, 17q, 7q, 12q, and X related genes, among others; which are analyzed in this study and will allow a better understanding of these disorders in the future.
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