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Down syndrome language

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https://www.readbyqxmd.com/read/28691782/a-novel-microduplication-of-arid1b-clinical-genetic-and-proteomic-findings
#1
Catarina M Seabra, Nicholas Szoko, Serkan Erdin, Ashok Ragavendran, Alexei Stortchevoi, Patrícia Maciel, Kathleen Lundberg, Daniela Schlatzer, Janice Smith, Michael E Talkowski, James F Gusella, Marvin R Natowicz
Genetic alterations of ARID1B have been recently recognized as one of the most common mendelian causes of intellectual disability and are associated with both syndromic and non-syndromic phenotypes. The ARID1B protein, a subunit of the chromatin remodeling complex SWI/SNF-A, is involved in the regulation of transcription and multiple downstream cellular processes. We report here the clinical, genetic, and proteomic phenotypes of an individual with a unique apparent de novo mutation of ARID1B due to an intragenic duplication...
July 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28654416/the-evaluation-of-a-personal-narrative-language-intervention-for-school-age-children-with-down-syndrome
#2
Lizbeth Finestack, Katy H O'Brien, Jolene Hyppa-Martin, Kristen A Lyrek
The purpose of this study was to evaluate the feasibility of an intervention focused on improving personal narrative skills of school-age children with Down syndrome (DS) using an approach involving visual supports. Four females with DS, ages 10 through 15 years, participated in this multiple baseline across participants single-subject experimental design study. Participants completed 18 intervention sessions that targeted personal narrative goals. Parents completed a survey regarding their perspectives of the intervention...
July 2017: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28654411/a-multi-method-investigation-of-pragmatic-development-in-individuals-with-down-syndrome
#3
Michelle Lee, Lauren Bush, Gary E Martin, Jamie Barstein, Nell Maltman, Jessica Klusek, Molly Losh
This longitudinal study examined pragmatic language in boys and girls with Down syndrome (DS) at up to three time points, using parent report, standardized and direct assessments. We also explored relationships among theory of mind, executive function, nonverbal mental age, receptive and expressive vocabulary, grammatical complexity, and pragmatic competence. Controlling for cognitive and language abilities, children with DS demonstrated greater difficulty than younger typically developing controls on parent report and standardized assessments, but only girls with DS differed on direct assessments...
July 2017: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28624322/assessing-pragmatic-communication-in-children-with-down-syndrome
#4
Elizabeth Smith, Kari-Anne B Næss, Christopher Jarrold
PURPOSE: Successful communication depends on language content, language form, and language use (pragmatics). Children with Down syndrome (DS) experience communication difficulties, however little is known about their pragmatic profile, particularly during early school years. The purpose of the present study was to explore the nature of pragmatic communication in children with DS. METHOD: Twenty-nine six-year-old children with DS were assessed, in the areas of 1) initiation, 2) scripted language, 3) understanding context and 4) nonverbal communication, as reported by children's parents via the Children's Communication Checklist-2 (Bishop, 2003)...
June 9, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28617944/inequity-in-timing-of-prenatal-screening-in-new-zealand-who-are-our-most-vulnerable
#5
Olivia Payne, Avinesh Pillai, Michelle Wise, Peter Stone
BACKGROUND: In New Zealand (NZ), Maori and Pacific women are less likely to complete prenatal screening for Down's syndrome and other aneuploidies than other ethnic groups. Young women <20 have low rates of completed screening compared with women >20 years. Women living in deprived areas have lower completed screen rates than women living in more affluent areas. Combined first trimester screening has a superior sensitivity (85%) compared with second trimester screening (75%) for trisomy 21...
June 15, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28612424/sleep-disordered-breathing-and-cognitive-functioning-in-preschool-children-with-and-without-down-syndrome
#6
A Joyce, D Dimitriou
BACKGROUND: Sleep affects children's cognitive development, preparedness for school and future academic outcomes. People with Down syndrome (DS) are particularly at risk for sleep-disordered breathing (SDB). To our knowledge, the association between SDB and cognition in preschoolers with DS is unknown. METHODS: We assessed sleep by using cardiorespiratory polygraphy in 22 typically developing (TD) preschoolers and 22 with DS. Cognition was assessed by using the Mullen Scales of Early Learning and behaviour by using the Strengths and Difficulties Questionnaire (SDQ)...
August 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28555009/acute-regression-in-young-people-with-down-syndrome
#7
Clotilde Mircher, Cécile Cieuta-Walti, Isabelle Marey, Anne-Sophie Rebillat, Laura Cretu, Eliane Milenko, Martine Conte, Franck Sturtz, Marie-Odile Rethore, Aimé Ravel
Abstract: Adolescents and young adults with Down syndrome (DS) can present a rapid regression with loss of independence and daily skills. Causes of regression are unknown and treatment is most of the time symptomatic. We did a retrospective cohort study of regression cases: patients were born between 1959 and 2000, and were followed from 1984 to now. We found 30 DS patients aged 11 to 30 years old with history of regression. Regression occurred regardless of the cognitive level (severe, moderate, or mild intellectual disability (ID))...
May 27, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28545237/emotion-recognition-in-adolescents-with-down-syndrome-a-nonverbal-approach
#8
Régis Pochon, Claire Touchet, Laure Ibernon
Several studies have reported that persons with Down syndrome (DS) have difficulties recognizing emotions; however, there is insufficient research to prove that a deficit of emotional knowledge exists in DS. The aim of this study was to evaluate the recognition of emotional facial expressions without making use of emotional vocabulary, given the language problems known to be associated with this syndrome. The ability to recognize six emotions was assessed in 24 adolescents with DS. Their performance was compared to that of 24 typically developing children with the same nonverbal-developmental age, as assessed by Raven's Progressive Matrices...
May 23, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28521525/babbling-in-children-with-neurodevelopmental-disability-and-validity-of-a-simplified-way-of-measuring-canonical-babbling-ratio
#9
Anna Nyman, Anette Lohmander
Babbling is an important precursor to speech, but has not yet been thoroughly investigated in children with neurodevelopmental disabilities. Canonical babbling ratio (CBR) is a commonly used but time-consuming measure for quantifying babbling. The aim of this study was twofold: to validate a simplified version of the CBR (CBR(UTTER)), and to use this measure to determine if early precursors to speech and language development could be detected in children with different neurodevelopmental disabilities. Two different data sets were used...
May 19, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28485651/vocalization-patterns-in-young-children-with-down-syndrome-utilizing-the-language-environment-analysis-lena-to-inform-behavioral-phenotypes
#10
Chandni Parikh, Ann M Mastergeorge
Children with Down syndrome (DS) are at higher risk for both delayed expressive language and poor speech intelligibility. The current study utilized the quantitative automated language environment analysis (LENA) to depict mother and child vocalizations and conversational patterns in the home of 43 children with DS, chronologically aged 24-64 months. Children with DS displayed fewer utterances than typically developing children; however, there was wide variability. Furthermore, children with DS did not show increased vocalization counts across their chronological ages...
January 1, 2017: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/28431488/core-vocabulary-of-young-children-with-down-syndrome
#11
Stijn R J M Deckers, Yvonne Van Zaalen, Hans Van Balkom, Ludo Verhoeven
The aim of this study was to develop a core vocabulary list for young children with intellectual disabilities between 2 and 7 years of age because data from this population are lacking in core vocabulary literature. Children with Down syndrome are considered one of the most valid reference groups for researching developmental patterns in children with intellectual disabilities; therefore, spontaneous language samples of 30 Dutch children with Down syndrome were collected during three different activities with multiple communication partners (free play with parents, lunch- or snack-time at home or at school, and speech therapy sessions)...
June 2017: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/28393740/precursors-to-language-development-in-typically-and-atypically-developing-infants-and-toddlers-the-importance-of-embracing-complexity
#12
Dean D'Souza, Hana D'Souza, Annette Karmiloff-Smith
In order to understand how language abilities emerge in typically and atypically developing infants and toddlers, it is important to embrace complexity in development. In this paper, we describe evidence that early language development is an experience-dependent process, shaped by diverse, interconnected, interdependent developmental mechanisms, processes, and abilities (e.g. statistical learning, sampling, functional specialization, visual attention, social interaction, motor ability). We also present evidence from our studies on neurodevelopmental disorders (e...
April 10, 2017: Journal of Child Language
https://www.readbyqxmd.com/read/28187370/language-comprehension-in-children-adolescents-and-adults-with-down-syndrome
#13
Bernadette Witecy, Martina Penke
BACKGROUND: There is conflicting evidence as to whether receptive language abilities of individuals with Down syndrome (DS) continue to improve into adulthood, reach a plateau in late adolescence, or even start to decline. AIM: The study aims to shed light on the question whether receptive syntactic skills change from childhood/adolescence to adulthood and provides a detailed qualitative analysis of the receptive abilities of adults with DS. METHODS: 58 individuals with DS participated in the study: 31 children/adolescents (aged: 4;6-19;0 years) and 27 adults (aged: 20;8-40;3 years)...
March 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28161297/signaling-of-noncomprehension-in-communication-breakdowns-in-fragile-x-syndrome-down-syndrome-and-autism-spectrum-disorder
#14
Gary E Martin, Jamie Barstein, Jane Hornickel, Sara Matherly, Genna Durante, Molly Losh
The ability to indicate a failure to understand a message is a critical pragmatic (social) language skill for managing communication breakdowns and supporting successful communicative exchanges. The current study examined the ability to signal noncomprehension across different types of confusing message conditions in children and adolescents with fragile X syndrome (FXS), Down syndrome (DS), autism spectrum disorder (ASD), and typical development (TD). Controlling for nonverbal mental age and receptive vocabulary skills, youth with comorbid FXS and ASD and those with DS were less likely than TD controls to signal noncomprehension of confusing messages...
January 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28141713/developmental-regression-depression-and-psychosocial-stress-in-an-adolescent-with-down-syndrome
#15
David S Stein, Kerim M Munir, Andrea J Karweck, Emily J Davidson, Martin T Stein
Kristen is a 13-year-old girl with Down syndrome (DS) who was seen urgently with concerns of cognitive and developmental regression including loss of language, social, and toileting skills. The evaluation in the DS clinic focused on potential medical diagnoses including atlantoaxial joint instability, vitamin deficiency, obstructive sleep apnea (OSA), and seizures. A comprehensive medical evaluation yielded only a finding of moderate OSA. A reactive depression was considered in association with several psychosocial factors including moving homes, entering puberty/onset of menses, and classroom change from an integrated setting to a self- contained classroom comprising unfamiliar peers with behavior challenges...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28112551/choice-making-in-rett-syndrome-a-descriptive-study-using-video-data
#16
Anna Urbanowicz, Natalie Ciccone, Sonya Girdler, Helen Leonard, Jenny Downs
PURPOSE: To describe the choice-making abilities of girls and women with Rett syndrome. METHOD: Females with Rett syndrome registered with the Australian Rett Syndrome Database with a pathogenic MECP2 mutation were included in this study. Video clips showing choice making in 64 females at a median age of 11.6 years (range 2.3-35.6 years) were analysed. Video clips were coded for the location and nature of the choice-making interaction, and the actions of the communication partner and female with Rett syndrome...
January 23, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28034975/pain-and-cognitive-functioning-in-adults-with-down-syndrome
#17
Nanda C de Knegt, Frank Lobbezoo, Carlo Schuengel, Heleen M Evenhuis, Erik J A Scherder
OBJECTIVE:  The aim of the present study was to examine whether cognitive functioning (i.e., memory and executive functioning) is related to self-reported presence of pain (i.e., affirmative answer to the question whether the individual feels pain) and experience of pain (i.e., intensity and affect) in adults with Down syndrome (DS). DESIGN, SETTING, AND SUBJECTS:  Cross-sectional study of 224 adults with DS (mean age = 38.1 years, mild-severe intellectual disabilities) in the Netherlands...
December 29, 2016: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28018980/the-londowns-adult-cognitive-assessment-to-study-cognitive-abilities-and-decline-in-down-syndrome
#18
Carla M Startin, Sarah Hamburg, Rosalyn Hithersay, Amy Davies, Erin Rodger, Nidhi Aggarwal, Tamara Al-Janabi, André Strydom
BACKGROUND: Down syndrome (DS), the most common genetic cause of intellectual disability, is associated with an ultra-high risk of developing Alzheimer's disease. However, there is individual variability in the onset of clinical dementia and in baseline cognitive abilities prior to decline, particularly in memory, executive functioning, and motor coordination. The LonDownS Consortium aims to determine risk and protective factors for the development of dementia and factors relating to cognitive abilities in people with DS...
November 15, 2016: Wellcome Open Research
https://www.readbyqxmd.com/read/27980329/preventative-therapies-and-periodontal-interventions-for-down-syndrome-patients
#19
David Jones, Joanna Morrison
Data sourcesMedline, Embase, Cochrane CENTRAL and OpenGREY databases without language restriction until March 2016 plus manual searching of four specific journals and consideration of reference lists.Study selectionStudies evaluating different methods of periodontal treatment in Down syndrome patients measuring at least two periodontal parameters at different periods of assessment. Titles, abstracts and full texts were considered by two independent reviewers and a third where discussion did not reach consensus...
December 2016: Evidence-based Dentistry
https://www.readbyqxmd.com/read/27924668/parenting-of-children-with-down-syndrome-compared-to-fragile-x-syndrome
#20
Audra Sterling, Steven F Warren
Children with Down syndrome (DS) and fragile X syndrome (FXS) struggle with language development. Parenting variables, such as responsiveness to children's communication attempts (Maternal Responsivity), and techniques used to support and teach appropriate behavior (Behavior Management) are known to have a significant impact on early child development. We examined these two aspects of parenting style via coded, videotaped parent-child interactions in two groups of participants matched on child age (2-5 years) and child expressive language level: mothers of children with DS and mothers of children with FXS...
December 7, 2016: Developmental Neurorehabilitation
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