Analysis of speech fluency in Williams syndrome

Williams syndrome (WS) is a neurodevelopmental genetic disorder, often referred as being characterized by dissociation between verbal and non-verbal abilities, although the number of studies disputing this proposal is emerging. Indeed, although they have been traditionally reported as displaying increased speech fluency, this topic has not been fully addressed in research. In previous studies carried out with a small group of individuals with WS, we reported speech breakdowns during conversational and autobiographical narratives suggestive of language difficulties. In the current study, we characterized the speech fluency profile using an ecologically based measure - a narrative task (story generation) was collected from a group of individuals with WS (n = 30) and typically developing group (n = 39) matched in mental age. Oral narratives were elicited using a picture stimulus - the cookie theft picture from Boston Diagnosis Aphasia Test. All narratives were analyzed according to typology and frequency of fluency breakdowns (non-stuttered and stuttered disfluencies). Oral narratives in WS group differed from typically developing group, mainly due to a significant increase in the frequency of disfluencies, particularly in terms of hesitations, repetitions and pauses. This is the first evidence of disfluencies in WS using an ecologically based task (oral narrative task), suggesting that these speech disfluencies may represent a significant marker of language problems in WS. (C) 2011 Elsevier Ltd. All rights reserved.

SED-brachydactyly and distinctive speech: Report of a new familial case

Background: Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS) is a syndrome characterized by short stature, disproportionately short limbs, peculiar face, thick and abundant hair, high-pitched and coarse voice, small epiphyses, brachymetacarpalia, brachymetatarsalia and brachy-phalangia of fingers and toes, small pelvis and delayed carpal bone age, among other features. Case Report: We report a Brazilian patient with father, brother and sister presenting with the same typical features of the syndrome. Clinically, he showed disproportionately short stature, rhizo-meso-acromelic shortness of the extremities, short hands and feet, a peculiar distinctive high-pitched voice, peculiar facies, and other features already reported as characteristic of this syndrome. Radiographic fndings included shape anomalies of the vertebral bodies such as cuboid-shaped vertebral bodies, mild scoliosis, short and broad tubular bones, brachymetacarpalia, brachymetatarsalia, and brachy-dactyly, lumbar hyperlordosis, generalized osteopenia, and hypoplastic iliac wings. Conclusions: Few cases have been described, as this is a rare skeletal dysplasia. This paper describes a new familial case of SED-BDS. © The American Journal of Case Reports.

Speech therapy intervention before dental management in patients with special needs: A case report

Fragile X syndrome is a cytogenetic abnormality related to chromosomal X. This syndrome is frequently associated to intellectual disability, psychological problems, as well as heart, skeletal and join alterations. Intraoral anomalies include malloclusion, ogival palate, cleft palate, presence of mesiodens, dental hypomineralization and abrasion of the occlusal surfaces and incisai edges. The study of characteristics of this syndrome is important for the dentist in order to guide dental treatment and prevention. The aim of this study is to present a myofunctional therapy protocol, evaluated by surface electromyography. A case of a 21 year-old young man who attended the Training Program in Dentistry for Persons with Disabilities, School of Dentistry of São José dos Campos/UNESP is reported. He underwent myofunctional therapy before dental treatment and the masticatory muscles were evaluated by surface electromyography. The exercises of myofunctional therapy consisted of active and passive simple movements of opening and closing the mouth, tongue protrusion and retrusion, digital manipulation and also by using an electric massager on intraoral and perioral region of the masseter, buccinator and orbicularis oris. Action potentials of the masticatory muscles decreased in almost all the muscles and values for the bite force and mandibular opening capacity increased. This study showed that brief and immediate myofunctional therapy optimized clinical practice with positive repercussion on dental care.