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https://www.readbyqxmd.com/read/28075089/autism-spectrum-disorder-primary-care-principles
#1
Kristian E Sanchack, Craig A Thomas
Autism spectrum disorder is characterized by difficulty with social communication and restricted, repetitive patterns of behavior, interest, or activities. The Diagnostic and Statistical Manual of Mental Disorders, 5th ed., created an umbrella diagnosis that includes several previously separate conditions: autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. There is insufficient evidence to recommend screening for autism spectrum disorder in children 18 to 30 months of age in whom the disorder is not suspected; however, there is a growing body of evidence that early intensive behavioral intervention based on applied behavior analysis improves cognitive ability, language, and adaptive skills...
December 15, 2016: American Family Physician
https://www.readbyqxmd.com/read/28074353/language-skills-of-males-with-fragile-x-syndrome-or-nonsyndromic-autism-spectrum-disorder
#2
Angela John Thurman, Andrea McDuffie, Randi J Hagerman, Cynde K Josol, Leonard Abbeduto
Despite the similarities observed between the fragile X syndrome (FXS) and autism spectrum disorder (ASD) phenotypes, few studies have compared their behavioral profiles outside of ASD symptomatology. In the present study, we sought to compare lexical and grammatical abilities in these two conditions. Comparisons of language abilities in both of these conditions are particularly interesting because both conditions are characterized by difficulties navigating social interactions. Results suggest that although both FXS and ASD are associated with language difficulties, there are important differences between the two conditions in terms of the language profiles observed and the factors influencing language when considering children of similar developmental levels...
January 10, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28070788/developmental-markers-of-genetic-liability-to-autism-in-parents-a-longitudinal-multigenerational-study
#3
Molly Losh, Gary E Martin, Michelle Lee, Jessica Klusek, John Sideris, Sheila Barron, Thomas Wassink
Genetic liability to autism spectrum disorder (ASD) can be expressed in unaffected relatives through subclinical, genetically meaningful traits, or endophenotypes. This study aimed to identify developmental endophenotypes in parents of individuals with ASD by examining parents' childhood academic development over the school-age period. A cohort of 139 parents of individuals with ASD were studied, along with their children with ASD and 28 controls. Parents' childhood records in the domains of language, reading, and math were studied from grades K-12...
January 9, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28044261/cognitive-development-in-a-young-child-with-mucolipidosis-type-iv-a-case-report
#4
Evelyn L Fisher, Rose A Sevcik, MaryAnn Romski
Mucolipidosis Type IV (ML IV) is an autosomal recessive genetic disorder characterized by severe psychomotor impairments and ophthalmologic abnormalities. Reports on the cognitive development of people with ML IV are limited, but suggest that achievement of language and cognitive milestones varies between a 3- and 18-month level. There is also variability in reports of whether people with ML IV make developmental progress, regress, or remain static after infancy. This study examines the longitudinal development of a young child with ML IV who participated in an augmentative and alternative communication (AAC) intervention...
January 3, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28032409/change-in-receptive-vocabulary-from-childhood-to-adulthood-associated-mental-health-education-and-employment-outcomes
#5
Rebecca Armstrong, Wendy Arnott, David A Copland, Katie McMahon, Asaduzzaman Khan, Jake M Najman, James G Scott
BACKGROUND: Population-based studies have found that early language delays are associated with poorer long-term outcomes in adolescence and adulthood. Few studies have explored the influence of change in language ability over time on adult outcomes. AIM: To examine the educational, vocational and mental health outcomes for adults accounting for different vocabulary developmental profiles over a 16-year period. METHODS & PROCEDURES: A total of 1914 participants of the Mater-University of Queensland Study of Pregnancy (MUSP) were categorized into four groups based on their vocabulary skills at 5 and 21 years: (1) persistently good (n = 1679), (2) persistently poor (n = 33), (3) improved (n = 160), and (4) deteriorated (n = 42)...
December 29, 2016: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/28005457/modelling-difficulties-in-abstract-thinking-in-psychosis-the-importance-of-socio-developmental-background
#6
A O Berg, I Melle, V Zuber, C Simonsen, M Nerhus, T Ueland, O A Andreassen, K Sundet, A Vaskinn
INTRODUCTION: Abstract thinking is important in modern understanding of neurocognitive abilities, and a symptom of thought disorder in psychosis. In patients with psychosis, we assessed if socio-developmental background influences abstract thinking, and the association with executive functioning and clinical psychosis symptoms. METHODS: Participants (n = 174) had a diagnosis of psychotic or bipolar disorder, were 17-65 years, intelligence quotient (IQ) > 70, fluent in a Scandinavian language, and their full primary education in Norway...
December 22, 2016: Cognitive Neuropsychiatry
https://www.readbyqxmd.com/read/28001274/language-behavior-and-neurodevelopment-in-joubert-syndrome-a-case-report
#7
Dionísia Aparecida Cusin Lamônica, Camila da Costa Ribeiro, Antonio Richieri-Costa, Célia Maria Giacheti
The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, psychomotor retardation, ocular-motor apraxia and neonatal respiratory abnormalities. The objective of this paper was to present language and neurodevelopmental findings of an individual diagnosed with JS. The following procedures were performed: anamnesis, clinical genetic evaluation observation of communicative behavior, evaluation of language, the Denver Developmental Screening Test II (DDST-II) and the Early Language Milestone Scale (ELMS)...
November 2016: CoDAS
https://www.readbyqxmd.com/read/28000910/-environmental-and-genetic-variables-related-with-alterations-in-language-acquisition-in-early-childhood
#8
REVIEW
A Moriano-Gutierrez, J Colomer-Revuelta, J Sanjuan, J M Carot-Sierra
INTRODUCTION: A great deal of research has addressed problems in the correct acquisition of language, but with few overall conclusions. The reasons for this lie in the individual variability, the existence of different measures for assessing language and the fact that a complex network of genetic and environmental factors are involved in its development. AIM: To review the environmental and genetic variables that have been studied to date, in order to gain a better under-standing of the causes of specific language impairment and create new evidence that can help in the development of screening systems for the early detection of these disorders...
January 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/27974878/learning-to-drive-in-young-adults-with-language-impairment
#9
Kevin Durkin, Umar Toseeb, Andrew Pickles, Nicola Botting, Gina Conti-Ramsden
Language impairment (LI) is a common developmental disorder which affects many aspects of young people's functional skills and engagement with society. Little is known of early driving behaviour in those with this disability. This longitudinal study examines early driving experience in a sample of young adults with LI, compared with a sample of typically developing age-matched peers (AMPs). At age 24 years, significantly fewer participants with LI had acquired a driving licence. A crucial hurdle for those with LI appeared to be the Theory part of the (UK) test...
October 2016: Transportation Research. Part F, Traffic Psychology and Behaviour
https://www.readbyqxmd.com/read/27939640/mutations-in-the-chromatin-regulator-gene-brpf1-cause-syndromic-intellectual-disability-and-deficient-histone-acetylation
#10
Kezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, Courtney Kiss, Anna Lehman, Jill A Rosenfeld, Constance T R Stumpel, Alexander P A Stegmann, Laurie Robak, Fernando Scaglia, Thi Tuyet Mai Nguyen, He Fu, Norbert F Ajeawung, Maria Vittoria Camurri, Lin Li, Alice Gardham, Bianca Panis, Mohammed Almannai, Maria J Guillen Sacoto, Berivan Baskin, Claudia Ruivenkamp, Fan Xia, Weimin Bi, Megan T Cho, Thomas P Potjer, Gijs W E Santen, Michael J Parker, Natalie Canham, Margaret McKinnon, Lorraine Potocki, Jennifer J MacKenzie, Elizabeth R Roeder, Philippe M Campeau, Xiang-Jiao Yang
Identification of over 500 epigenetic regulators in humans raises an interesting question regarding how chromatin dysregulation contributes to different diseases. Bromodomain and PHD finger-containing protein 1 (BRPF1) is a multivalent chromatin regulator possessing three histone-binding domains, one non-specific DNA-binding module, and several motifs for interacting with and activating three lysine acetyltransferases. Genetic analyses of fish brpf1 and mouse Brpf1 have uncovered an important role in skeletal, hematopoietic, and brain development, but it remains unclear how BRPF1 is linked to human development and disease...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27917704/parent-child-interaction-in-motor-speech-therapy
#11
Aravind Kumar Namasivayam, Vibhuti Jethava, Margit Pukonen, Anna Huynh, Debra Goshulak, Robert Kroll, Pascal van Lieshout
PURPOSE: This study measures the reliability and sensitivity of a modified Parent-Child Interaction Observation scale (PCIOs) used to monitor the quality of parent-child interaction. The scale is part of a home-training program employed with direct motor speech intervention for children with speech sound disorders. METHOD: Eighty-four preschool age children with speech sound disorders were provided either high- (2×/week/10 weeks) or low-intensity (1×/week/10 weeks) motor speech intervention...
December 5, 2016: Disability and Rehabilitation
https://www.readbyqxmd.com/read/27912958/a-systematic-review-of-the-ayurvedic-medicinal-herb-bacopa-monnieri-in-child-and-adolescent-populations
#12
REVIEW
James D Kean, Luke A Downey, Con Stough
OBJECTIVES: Clinicians utilise critical research to advance their knowledge when prescribing standard and alternative therapies for developmental disorders. Recent research has reported that the traditional Ayurvedic medicine Bacopa monnieri may improve cognitive outcomes in adult populations; however, few studies have investigated its benefits in younger cohorts. The aim of the current review is to systematically assess and critically summarize clinical trial outcomes and safety of Bacopa and its effects on the cognition and behaviour in children and adolescents...
December 2016: Complementary Therapies in Medicine
https://www.readbyqxmd.com/read/27906503/neurodevelopmental-disorders
#13
REVIEW
Hana D'Souza, Annette Karmiloff-Smith
Recent technological advances allow us to measure how the infant brain functions in ways that were not possible just a decade ago. Although methodological advances are exciting, we must also consider how theories guide research: what we look for and how we explain what we find. Indeed, the ways in which research findings are interpreted affects the design of policies, educational practices, and interventions. Thus, the theoretical approaches adopted by scientists have a real impact on the lives of children with neurodevelopmental disorders (NDDs) and their families, as well as on the wider community...
January 2017: Wiley Interdisciplinary Reviews. Cognitive Science
https://www.readbyqxmd.com/read/27903720/oscillatory-dynamics-underlying-perceptual-narrowing-of-native-phoneme-mapping-from-6-to-12-months-of-age
#14
Silvia Ortiz-Mantilla, Jarmo A Hämäläinen, Teresa Realpe-Bonilla, April A Benasich
: During the first months of life, human infants process phonemic elements from all languages similarly. However, by 12 months of age, as language-specific phonemic maps are established, infants respond preferentially to their native language. This process, known as perceptual narrowing, supports neural representation and thus efficient processing of the distinctive phonemes within the sound environment. Although oscillatory mechanisms underlying processing of native and non-native phonemic contrasts were recently delineated in 6-month-old infants, the maturational trajectory of these mechanisms remained unclear...
November 30, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27899087/paradoxical-physiological-responses-to-propranolol-in-a-rett-syndrome-patient-a-case-report
#15
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27896942/mid-childhood-outcomes-of-infant-siblings-at-familial-high-risk-of-autism-spectrum-disorder
#16
Elizabeth Shephard, Bosiljka Milosavljevic, Greg Pasco, Emily J H Jones, Teodora Gliga, Francesca Happé, Mark H Johnson, Tony Charman
Almost one-in-five infants at high familial risk for autism spectrum disorder (ASD), due to having an older sibling with an ASD diagnosis, develop ASD themselves by age 3 years. Less is known about the longer-term outcomes of high-risk infants. To address this issue, we examined symptoms of ASD and associated developmental conditions (attention-deficit/hyperactivity disorder (ADHD); anxiety), language, IQ, and adaptive behaviour at age 7 years in high- and low-risk children studied from infancy. We compared outcomes between high-risk children who met criteria for ASD at age 7, high-risk children without ASD, and low-risk control children...
November 29, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27876688/online-concerns-of-parents-suspecting-autism-spectrum-disorder-in-their-child-content-analysis-of-signs-and-automated-prediction-of-risk
#17
Ayelet Ben-Sasson, Elad Yom-Tov
BACKGROUND: Online communities are used as platforms by parents to verify developmental and health concerns related to their child. The increasing public awareness of autism spectrum disorders (ASD) leads more parents to suspect ASD in their child. Early identification of ASD is important for early intervention. OBJECTIVE: To characterize the symptoms mentioned in online queries posed by parents who suspect that their child might have ASD and determine whether they are age-specific...
November 22, 2016: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/27875541/new-perspective-on-impact-of-folic-acid-supplementation-during-pregnancy-on-neurodevelopment-autism-in-the-offspring-children-a-systematic-review
#18
Yunfei Gao, Chao Sheng, Ri-Hua Xie, Wen Sun, Elizabeth Asztalos, Diane Moddemann, Lonnie Zwaigenbaum, Mark Walker, Shi Wu Wen
It has been conclusively established that folic acid supplementation prior to and during early pregnancy (up to 12 weeks of gestation) can prevent neural tube defects (NTDs). We hypothesized that folate effects may extend from neuro-structural defects to alterations in neuro-behavioural and emotional skills including autism spectrum disorders (ASDs) and other developmental disorders. The objective of this review was to comprehensively evaluate evidence on the impact of folic acid on neurodevelopment other than NTDs...
2016: PloS One
https://www.readbyqxmd.com/read/27867345/language-impairment-resulting-from-a-de-novo-deletion-of-7q32-1q33
#19
María S Jiménez-Romero, Montserrat Barcos-Martínez, Isabel Espejo-Portero, Antonio Benítez-Burraco
We report on a girl who presents with hearing loss, behavioral disturbances (according to the Inventory for Client and Agency Planning) as well as motor and cognitive delay (according to Battelle Developmental Inventories) which have a significant impact on her speech and language abilities [according to the Peabody Picture Vocabulary Test (ed 3), and the Prueba de Lenguaje Oral de Navarra-Revisada (Navarra Oral Language Test, Revised)]. Five copy number variations (CNVs) were identified in the child: arr[hg18] 7q32...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27859986/effectiveness-of-1-1-speech-and-language-therapy-for-older-children-with-developmental-language-disorder
#20
Susan H Ebbels, Lisa Wright, Sally Brockbank, Caroline Godfrey, Catherine Harris, Hannah Leniston, Kate Neary, Hilary Nicoll, Lucy Nicoll, Jackie Scott, Nataša Marić
BACKGROUND: Evidence of the effectiveness of therapy for older children with (developmental) language disorder (DLD), and particularly those with receptive language impairments, is very limited. The few existing studies have focused on particular target areas, but none has looked at a whole area of a service. AIMS: To establish whether for students with (developmental) language disorder attending a specialist school, 1:1 intervention with an SLT during one school term improves performance on targeted areas, compared with untreated control areas...
November 18, 2016: International Journal of Language & Communication Disorders
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