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https://www.readbyqxmd.com/read/29666354/double-trisomy-xxx-21-karyotype-in-a-six-year-old-girl-with-down-phenotype
#1
Laura Daniela Vergara-Mendez, Claudia Talero-Gutiérrez, Alberto Velez-Van-Meerbeke
We describe a case of a six-year-old girl who presents multiple dysmorphic features characteristic of Down's syndrome. She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay is especially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditory responses in hearing test were normal. Two previous karyotype studies showed 47, XXX, +21 anomalies. This double trisomy is a rare condition described in isolated cases in the literature and none of these refers to the developmental aspects of these children (Balwan et al...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29513864/contributions-of-speech-language-therapy-to-the-integration-of-individuals-with-down-syndrome-in-the-workplace
#2
Talita Maria Monteiro Farias Barbosa, Ivonaldo Leidson Barbosa Lima, Giorvan Ânderson Dos Santos Alves, Isabelle Cahino Delgado
PURPOSE: To analyze the contributions of speech-language therapy in the integration of young individuals with Down syndrome (DS) into the workplace, with reference to their professionalization. METHODS: A questionnaire was distributed to eight undergraduate students (tutors) who participated in a project with individuals with DS, five mothers of individuals with DS, and five employees from the institution in which the present study was conducted. The questionnaire assessed the communication, memory, behavior, social interaction, autonomy and independence of the participants with DS, called "trainees"...
March 1, 2018: CoDAS
https://www.readbyqxmd.com/read/29498451/50-years-with-down-syndrome-a-longitudinal-study
#3
Janet Carr, Suzanne Collins
BACKGROUND: A population sample of people with Down syndrome, studied from infancy, has now been followed up at the age of 50 years. From the original sample of 54, there were 27 still in the study at the age of 50, all but four of the losses resulting from deaths. METHODS: Intelligence and language skills were tested and daily living skills assessed. Memory/cognitive deterioration was examined using two test instruments. Other aspects of the people's lives were examined via carers' reports...
March 2, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29480772/growth-and-decline-in-language-and-phonological-memory-over-two-years-among-adolescents-with-down-syndrome
#4
Frances A Conners, Andrew S Tungate, Leonard Abbeduto, Edward C Merrill, Gayle G Faught
Forty-two adolescents with Down syndrome (DS) ages 10 to 21 years completed a battery of language and phonological memory measures twice, 2 years apart. Individual differences were highly stable across two years. Receptive vocabulary scores improved, there was no change in receptive or expressive grammar scores, and nonword repetition scores declined. Digit memory and expressive vocabulary scores improved among younger adolescents, but generally held steady among older adolescents. These patterns may reveal key points in development at which interventions may be best applied...
March 2018: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/29333085/next-generation-sequencing-expression-profiling-of-mitochondrial-subunits-in-men-with-klinefelter-syndrome
#5
Michele Salemi, Laura Cimino, Marika Marino, Rossella Cannarella, Rosita A Condorelli, Corrado Romano, Sandro La Vignera, Aldo E Calogero
Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29329955/longitudinal-predictors-of-early-language-in-infants-with-down-syndrome-a-preliminary-study
#6
Emily Mason-Apps, Vesna Stojanovik, Carmel Houston-Price, Sue Buckley
PURPOSE: Children with Down syndrome (DS) typically have marked delays in language development relative to their general cognitive development, with particular difficulties in expressive compared to receptive language. Although early social communication skills, including gestures and joint attention, have been shown to be related to later language outcomes in DS, knowledge is limited as to whether these factors exclusively predict outcomes, or whether other factors (e.g. perceptual and non-verbal skills) are involved...
January 9, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29232055/outcome-of-orthodontic-palatal-plate-therapy-for-orofacial-dysfunction-in-children-with-down-syndrome-a-systematic-review
#7
REVIEW
F Javed, Z Akram, A P Barillas, S V Kellesarian, H B Ahmed, J Khan, K Almas
To evaluate the effects of orthodontic palatal plate therapy (OPPT) in the treatment of orofacial dysfunction in children with Down syndrome (DS). Indexed databases were searched. Clinical trials in DS allocated to test (treatment with palatal plates) versus control group (without palatal plates/special physiotherapy for orofacial stimulation) with follow-up of any time duration and assessing mouth closure, tongue position, active and inactive muscle function as outcomes. Study designs, subject demographics, frequency and duration of palatal plate therapy, method for assessment, follow-up period and outcomes were reported according to the PRISMA guidelines...
February 2018: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/29210512/auditory-evoked-potentials-in-children-and-adolescents-with-down-syndrome
#8
Letícia Gregory, Rafael F M Rosa, Paulo R G Zen, Pricila Sleifer
Down syndrome, or trisomy 21, is the most common genetic alteration in humans. The syndrome presents with several features, including hearing loss and changes in the central nervous system, which may affect language development in children and lead to school difficulties. The present study aimed to investigate group differences in the central auditory system by long-latency auditory evoked potentials and cognitive potential. An assessment of 23 children and adolescents with Down syndrome was performed, and a control group composed of 43 children and adolescents without genetic and/or neurological changes was used for comparison...
January 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29192799/communication-as-a-human-right-citizenship-politics-and-the-role-of-the-speech-language-pathologist
#9
Declan Murphy, Rena Lyons, Clare Carroll, Mari Caulfield, Gráinne De Paor
According to Article 19 of the Universal Declaration on Human Rights "Everyone has the right to freedom of opinion and expression; this right includes freedom to hold opinions without interference and to seek, receive and impart information and ideas through any media and regardless of frontiers." The purpose of this paper is to elucidate communication as a human right in the life of a young man called Declan who has Down syndrome. This commentary paper is co-written by Declan, his sister who is a speech-language pathologist (SLP) with an advocacy role, his SLP, and academics...
February 2018: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/29132461/-clinical-features-of-rubinstein-taybi-syndrome-and-novel-mutation-in-the-crebbp-gene-an-analysis-of-one-case
#10
Yuan Li, Shan He, Hong-Ling Zhu
The patient was a girl aged 3 years and 8 months with normal body length and body weight at birth. The girl had feeding difficulty after birth. Her height, body weight, and head circumference were below the 3rd percentile. She had intellectual disability and an unusual facies manifesting as arched shaggy eyebrows, down-slanting palpebral fissures, and broad nasal bridge, but had no a beaked nose, broad thumbs, or big toes. These clinical manifestations were basically consistent with Rubinstein-Taybi syndrome (RSTS)...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29129311/speech-disfluencies-in-children-with-down-syndrome
#11
Kurt Eggers, Sabine Van Eerdenbrugh
PURPOSE: Speech and language development in individuals with Down syndrome is often delayed and/or disordered and speech disfluencies appear to be more common. These disfluencies have been labeled over time as stuttering, cluttering or both. FINDINGS: were usually generated from studies with adults or a mixed age group, quite often using different methodologies, making it difficult to compare findings. Therefore, the purpose of this study was to analyze and describe the speech disfluencies of a group, only consisting of children with Down Syndrome between 3 and 13 years of age...
November 8, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#12
REVIEW
Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method...
November 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29081756/the-locus-preservation-hypothesis-shared-linguistic-profiles-across-developmental-disorders-and-the-resilient-part-of-the-human-language-faculty
#13
Evelina Leivada, Maria Kambanaros, Kleanthes K Grohmann
Grammatical markers are not uniformly impaired across speakers of different languages, even when speakers share a diagnosis and the marker in question is grammaticalized in a similar way in these languages. The aim of this work is to demarcate, from a cross-linguistic perspective, the linguistic phenotype of three genetically heterogeneous developmental disorders: specific language impairment, Down syndrome, and autism spectrum disorder. After a systematic review of linguistic profiles targeting mainly English-, Greek-, Catalan-, and Spanish-speaking populations with developmental disorders ( n = 880), shared loci of impairment are identified and certain domains of grammar are shown to be more vulnerable than others...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/29054333/developmental-trend-of-children-with-down-s-syndrome-how-do-sex-and-neonatal-conditions-influence-their-developmental-patterns
#14
Sayaka Aoki, Yuko Yamauchi, Keiji Hashimoto
OBJECTIVE: This study investigated factors that would influence developmental trend of children with Down's syndrome (DS) in three different domains (motor, cognitive, language), specifically focusing on the effect of sex and neonatal conditions, including preterm birth, low birth weight, and congenital heart disease (CHD). METHODS: The participants were 158 children with DS (mean age at the initial test = 25.5 months) receiving clinical service at a rehabilitation center in Yokohama, Japan...
October 17, 2017: Brain & Development
https://www.readbyqxmd.com/read/29046205/-clinical-phenotype-and-genetic-analysis-of-med13l-syndrome
#15
Qing-Jie Meng, Xue-Lian He, Han Xiao, Qian Xia, Bo Bi, Yun Xiang
A boy aged 4 years and 2 months was found to have delayed language and motor development, instability of gait, poor eye contact, stereotyped behavior, and seizure at the age of 3 years. Physical examination showed special facial features, including plagiocephaly, blepharoptosis, wide nasal bridge, down-turned mouth corners at both sides, and low-set ears. There were only two knuckles at the little finger of the left hand. The anteroposterior and lateral films of the spine showed scoliosis; echocardiography showed ventricular septal defect; the Gesell Developmental Scale showed delayed language development and moderate intellectual disability; there were no abnormalities in the karyotype; genome-wide SNP arrays found a duplication in 12q24...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29032290/inferential-language-use-by-youth-with-down-syndrome-during-narration
#16
Shealyn A Ashby, Marie Moore Channell, Leonard Abbeduto
We examined inferential language use by youth with Down syndrome (DS) in the context of narrative storytelling relative to younger typically developing (TD) children and same-aged peers with fragile X syndrome (FXS) matched on nonverbal cognitive ability level. Participants' narratives were coded for the use of different types of inferential language. Participants with DS used proportionately less inferential language overall relative to their counterparts with TD or FXS, although mean length of utterance accounted for group differences observed for the DS-TD group comparison only...
December 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28967605/-22q11-2%C3%A2-microdeletion-syndrome-analysis-of-the-care-pathway-before-the-genetic-diagnosis
#17
T Ingrao, L Lambert, M Valduga, G Bosser, E Albuisson, B Leheup
BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a very broad phenotypic spectrum disorder. It can affect many organs or systems. 22q11.2DS is the most common microdeletion syndrome in humans, with a prevalence ranging from one in every 2000 to one in 4000 newborns. It seems to be more prevalent than reported and under-recognized or undiagnosed because of its inherent clinical variability and heterogeneity. In France, 15,000 patients may be affected by this disease, more than half without knowing it...
November 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28884405/ethnicity-and-language-proficiency-differences-in-the-provision-of-and-intention-to-use-prenatal-screening-for-down-s-syndrome-and-congenital-anomalies-a-prospective-non-selected-register-based-study-in-the-netherlands
#18
Ingrid A Peters, Kirsten M Heetkamp, Nicolette T C Ursem, Eric A P Steegers, Semiha Denktaş, Maarten F C M Knapen
Objective We aimed to conduct an analysis of the associations between the information provision procedure of prenatal screening for Down's syndrome and congenital anomalies and the intention to participate in prenatal screening (PS) of ethnicity groups and Dutch language proficiency groups. Design Using a prospective web-based registration form, we asked counselors (midwives, general practitioners, nurses and gynecologists) to report whether and how they offered information about PS to pregnant women. Duration The study was conducted from 2008 to 2010...
September 7, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28859781/no-261-prenatal-screening-for-fetal-aneuploidy-in-singleton-pregnancies
#19
David Chitayat, Sylvie Langlois, R Douglas Wilson
OBJECTIVE: To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton pregnancies. OPTIONS: Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with aneuploidy to determine whether invasive prenatal diagnostic testing is necessary...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28859779/no-262-prenatal-screening-for-and-diagnosis-of-aneuploidy-in-twin-pregnancies
#20
François Audibert, Alain Gagnon
OBJECTIVE: To provide a Canadian consensus document with recommendations on prenatal screening for and diagnosis of fetal aneuploidy (e.g., Down syndrome and trisomy 18) in twin pregnancies. OPTIONS: The process of prenatal screening and diagnosis in twin pregnancies is complex. This document reviews the options available to pregnant women and the challenges specific to screening and diagnosis in a twin pregnancy. OUTCOMES: Clinicians will be better informed about the accuracy of different screening options in twin pregnancies and about techniques of invasive prenatal diagnosis in twins...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
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