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Down syndrome language

Jena McDaniel, Paul J Yoder
The behavioral phenotype of individuals with Down syndrome (DS) offers one avenue for developing speech-language therapy services that are tailored to the individual's characteristics that affect treatment response. Behavioral phenotypes are patterns of behavioral strengths and weaknesses for specific genetic disorders that can help guide the development and implementation of effective interventions. Nonetheless, individual differences within children with DS must be acknowledged and addressed because behavioral phenotypes are probabilistic, not deterministic...
November 2016: Seminars in Speech and Language
Anna Amadó, Elisabet Serrat, Eduard Vallès-Majoral
Many studies show a link between social cognition, a set of cognitive and emotional abilities applied to social situations, and executive functions in typical developing children. Children with Down syndrome (DS) show deficits both in social cognition and in some subcomponents of executive functions. However this link has barely been studied in this population. The aim of this study is to investigate the links between social cognition and executive functions among children with DS. We administered a battery of social cognition and executive function tasks (six theory of mind tasks, a test of emotion comprehension, and three executive function tasks) to a group of 30 participants with DS between 4 and 12 years of age...
2016: Frontiers in Psychology
David Hessl, Stephanie M Sansone, Elizabeth Berry-Kravis, Karen Riley, Keith F Widaman, Leonard Abbeduto, Andrea Schneider, Jeanine Coleman, Dena Oaklander, Kelly C Rhodes, Richard C Gershon
BACKGROUND: Recent advances in understanding molecular and synaptic mechanisms of intellectual disabilities (ID) in fragile X syndrome (FXS) and Down syndrome (DS) through animal models have led to targeted controlled trials with pharmacological agents designed to normalize these underlying mechanisms and improve clinical outcomes. However, several human clinical trials have failed to demonstrate efficacy of these targeted treatments to improve surrogate behavioral endpoints. Because the ultimate index of disease modification in these disorders is amelioration of ID, the validation of cognitive measures for tracking treatment response is essential...
2016: Journal of Neurodevelopmental Disorders
Carly Meyer, Deborah Theodoros, Louise Hickson
PURPOSE: To explore speech pathology services for people with Down syndrome across the lifespan. METHOD: Speech-language pathologists (SLPs) working in Australia were invited to complete an online survey, which enquired about the speech pathology services they had provided to client/s with Down syndrome in the past 12 months. The data were analysed using descriptive statistics. RESULT: A total of 390 SLPs completed the survey; 62% reported seeing a client with Down syndrome in the past 12 months...
September 6, 2016: International Journal of Speech-language Pathology
Dean D'Souza, Hana D'Souza, Mark H Johnson, Annette Karmiloff-Smith
Typically-developing (TD) infants can construct unified cross-modal percepts, such as a speaking face, by integrating auditory-visual (AV) information. This skill is a key building block upon which higher-level skills, such as word learning, are built. Because word learning is seriously delayed in most children with neurodevelopmental disorders, we assessed the hypothesis that this delay partly results from a deficit in integrating AV speech cues. AV speech integration has rarely been investigated in neurodevelopmental disorders, and never previously in infants...
August 2016: Infant Behavior & Development
Elizabeth Kay-Raining Bird, Fred Genesee, Ludo Verhoeven
Children with developmental disabilities (DD) often need and sometimes opt to become bilingual. The context for bilingual acquisition varies considerably and can impact outcomes. In this first article of the special issue, we review research on the timing and amount of bilingual exposure and outcomes of either direct language intervention or educational placements in three groups of children with DD: Specific Language Impairment (SLI), Autism Spectrum Disorders (ASD), and Down syndrome (DS). Children with SLI have been studied more than the other two groups...
July 18, 2016: Journal of Communication Disorders
Wilmar Saldarriaga, Fabian Andres Ruiz, Flora Tassone, Randi Hagerman
BACKGROUND: Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. METHODS: Cytogenetic testing detected the presence of a complete trisomy 21. A combination of PCR and Southern blot analysis was utilized to document the presence of the FMR1 full mutation...
July 26, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
Miguel Galeote, Elena Checa, Concepción Sánchez-Palacios, Eugenia Sebastián, Pilar Soto
PURPOSE: The MacArthur-Bates Communicative Development Inventories are widely used to study early language and communicative development. We recently developed a Spanish version for children with Down syndrome (the CDI-Down) adapted to their particular profile of linguistic and communicative development. The principal aims of this study are to assess the concurrent validity and test-retest reliability of the vocabulary section of this adaptation. METHOD: Validation for productive vocabulary (Study 1) was achieved by correlating CDI-Down scores on expressive vocabulary and measures on the basis of spontaneous speech samples (n = 29)...
August 1, 2016: American Journal of Speech-language Pathology
César Osório de Oliveira, Luciane Bc Carvalho, Karla Carlos, Cristiane Conti, Marcio M de Oliveira, Lucila Bf Prado, Gilmar F Prado
BACKGROUND: Restless legs syndrome (RLS) is a distressing and common neurological disorder that may have a huge impact in the quality of life of those with frequent and intense symptoms. Patients complain of unpleasant sensations in the legs, at or before bedtime, and feel an urge to move the legs, which improves with movement, such as walking. Symptoms start with the patient at rest (e.g. sitting or lying down), and follow a circadian pattern, increasing during the evening or at night...
2016: Cochrane Database of Systematic Reviews
S R J M Deckers, Y Van Zaalen, E J M Mens, H Van Balkom, L Verhoeven
The expressive vocabulary of children with Down Syndrome (DS) is generally measured with parental reports, such as the Communicative Development Inventory (CDI), given that standardized tests for assessing vocabulary levels may be too difficult for most young children with DS. The CDI provides important insight into the parents' perception of their child's vocabulary development. The CDI has proven to be a valid measurement of expressive vocabulary, spoken and gestural, in typical and atypical populations. The validity in children with DS is not well established and signed vocabulary is often not included...
September 2016: Research in Developmental Disabilities
Carla M Startin, Erin Rodger, Lucy Fodor-Wynne, Sarah Hamburg, André Strydom
Down syndrome (DS) is the most common genetic cause of intellectual disability (ID). Abilities relating to executive function, memory and language are particularly affected in DS, although there is a large variability across individuals. People with DS also show an increased risk of developing dementia. While assessment batteries have been developed for adults with DS to assess cognitive abilities, these batteries may not be suitable for those with more severe IDs, dementia, or visual / hearing difficulties...
2016: PloS One
Gayle G Faught, Frances A Conners, Angela B Barber, Hannah R Price
BACKGROUND: Phonological memory (PM) plays a significant role in language development but is impaired in individuals with Down syndrome (DS). Without formal recommendations on how to address PM limitations in clients with DS, it is possible speech-language pathologists (SLPs) find ways to do so in their practices. AIMS: This study asked if and how SLPs address PM in language therapy with clients who have DS. It also asked about SLPs' opinions of the importance, practicality and difficulty of addressing PM in clients with DS...
May 5, 2016: International Journal of Language & Communication Disorders
Marleen Vanvuchelen
A number of studies suggest that imitation is a characteristic strength in children with Down Syndrome (DS). The present study aims to discover whether imitation performances are qualitatively phenotypical in DS. Eight preschoolers with DS were matched on chronological, mental, language and imitation age with 8 preschoolers with intellectual disability of undifferentiated etiology (ID-UND). Imitation performances on the Preschool Imitation and Praxis Scale were videotaped for blind scoring on 30 possible errors...
May 2016: American Journal on Intellectual and Developmental Disabilities
Vani Rupela, Shelley L Velleman, Mary V Andrianopoulos
PURPOSE: Motor speech characteristics of children with Down syndrome (DS) have historically been viewed as either Childhood Dysarthria (CD) or, more infrequently, as Childhood Apraxia of Speech (CAS). The objective of this study was to investigate motor speech deficits in a systematic manner, considering characteristics from both CAS and CD. METHOD: Motor speech assessments were carried out on seven 3;4-8;11-year old children with DS in comparison with younger, typically-developing children using a Language-Neutral Assessment of Motor Speech for young children (LAMS)...
October 2016: International Journal of Speech-language Pathology
Gail A Spiridigliozzi, Sarah J Hart, James H Heller, Heather E Schneider, Jane Ann Baker, Cathleen Weadon, George T Capone, Priya S Kishnani
Individuals with Down syndrome (DS) have decreased cholinergic function and an uneven profile of cognitive abilities, with more pronounced deficits in learning, memory, and expressive language. Cholinesterase inhibitors may improve cognitive function in adults and adolescents with DS, but studies in children with DS have been limited. This study aimed to: (i) investigate the safety and efficacy of rivastigmine treatment; (ii) build upon our open-label studies in children with DS in a double-blind, placebo-controlled clinical trial; and (iii) investigate specific cognitive domains that may respond to rivastigmine treatment...
June 2016: American Journal of Medical Genetics. Part A
Henrik Danielsson, Lucy Henry, David Messer, Daniel P J Carney, Jerker Rönnberg
This study examined the development of phonological recoding in short-term memory (STM) span tasks among two clinical groups with contrasting STM and language profiles: those with Down syndrome (DS) and Williams syndrome (WS). Phonological recoding was assessed by comparing: (1) performance on phonologically similar and dissimilar items (phonological similarity effects, PSE); and (2) items with short and long names (word length effects, WLE). Participant groups included children and adolescents with DS (n=29), WS (n=25) and typical development (n=51), all with average mental ages around 6 years...
August 2016: Research in Developmental Disabilities
S D R Ringenbach, S D Holzapfel, G M Mulvey, A Jimenez, A Benson, M Richter
BACKGROUND: Reports of positive effects of aerobic exercise on cognitive function in persons with Down syndrome are extremely limited. However, a novel exercise intervention, termed assisted cycling therapy (ACT), has resulted in acutely improved cognitive planning ability and reaction times as well as improved cognitive planning after 8 weeks of ACT in adolescents and young adults with Down syndrome. Here, we report the effects of 8 weeks of ACT on reaction time, set-shifting, inhibition and language fluency in adolescents with Down syndrome...
March 28, 2016: Journal of Intellectual Disability Research: JIDR
M Heimann, E Nordqvist, K Strid, J Connant Almrot, T Tjus
BACKGROUND: Imitation, a key vehicle for both cognitive and social development, is often regarded as more difficult for children with autism spectrum disorders (ASD) than for children with Down syndrome (DS) or typically developing (TD) children. The current study investigates similarities and differences in observed elicited, spontaneous and deferred imitation using both actions with objects and gestures as imitation tasks in these groups. METHODS: Imitation among 19 children with autism was compared with 20 children with DS and 23 TD children matched for mental and language age...
May 2016: Journal of Intellectual Disability Research: JIDR
M Cuskelly, L Gilmore, S Glenn, A Jobling
BACKGROUND: Self-regulation has been found to be an important contributor to a range of outcomes, with delay of gratification (a self-regulatory skill) predicting better academic, social and personal functioning. There is some evidence that individuals with Down syndrome have difficulty with delay of gratification. We investigated the question of whether this difficulty is common to intellectual disability irrespective of aetiology, or whether it presents a particular problem for those with Down syndrome...
September 2016: Journal of Intellectual Disability Research: JIDR
Tarek Alsaied, Bradley S Marino, Anna J Esbensen, Julia S Anixt, Jeffery N Epstein, James F Cnota
OBJECTIVE: The impact that congenital heart disease (CHD) has on the neurodevelopment of children with Down syndrome (DS) is unknown and potentially has implications for targeted early intervention. This study assessed the relationship between CHD that required surgery in the first year of life and neurodevelopmental, behavioral and emotional functioning outcomes in children with DS. METHODS: A retrospective chart review of 1092 children (0-18 years) with DS who visited a single institution from 8/08-8/13 was performed...
January 2016: Congenital Heart Disease
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