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https://www.readbyqxmd.com/read/28095807/comparison-of-developmental-milestone-attainment-in-early-treated-hiv-infected-infants-versus-hiv-unexposed-infants-a-prospective-cohort-study
#1
Sarah Benki-Nugent, Dalton Wamalwa, Agnes Langat, Kenneth Tapia, Judith Adhiambo, Daisy Chebet, Helen Moraa Okinyi, Grace John-Stewart
BACKGROUND: Infant HIV infection is associated with delayed milestone attainment. The extent to which effective antiretroviral therapy (ART) prevents these delays is not well defined. METHODS: Ages at attainment of milestones were compared between HIV-infected (initiated ART by age <5 months), and HIV-unexposed uninfected (HUU) infants. Kaplan Meier analyses were used to estimate and compare (log-rank tests) ages at milestones between groups. Adjusted analyses were performed using Cox proportional hazards models...
January 17, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28079113/congenital-hearing-loss
#2
Anna M H Korver, Richard J H Smith, Guy Van Camp, Mark R Schleiss, Maria A K Bitner-Glindzicz, Lawrence R Lustig, Shin-Ichi Usami, An N Boudewyns
Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing screening programmes enable early detection; early intervention will prevent delays in speech and language development and has long-lasting beneficial effects on social and emotional development and quality of life. A diagnosis of hearing loss is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus infection, are also a common risk factor for hearing loss...
January 12, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28055022/laboratory-diagnosis-of-creatine-deficiency-syndromes-a-technical-standard-and-guideline-of-the-american-college-of-medical-genetics-and-genomics
#3
J Daniel Sharer, Olaf Bodamer, Nicola Longo, Silvia Tortorelli, Mirjam M C Wamelink, Sarah Young
Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen...
January 5, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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/28040133/molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-8-or-r-8-p11-22%C3%A2-q11-21-in-an-18-year-old-female-with-short-stature-obesity-attention-deficit-hyperactivity-disorder-and-intellectual-disability
#5
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Meng-Shan Lee, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. MATERIALS AND METHODS: An 18-year-old female presented with short stature, obesity, developmental delay, speech delay, dyslexia, attention deficit hyperactivity disorder, and intellectual disability. Cytogenetic analysis of the peripheral blood revealed a karyotype of 47,XX,+mar[22]/46,XX[18]. Array comparative genomic hybridization and metaphase fluorescence in situ hybridization analyses were performed on the peripheral blood to determine the origin and mosaicism of the sSMC, and quantitative fluorescent polymerase chain reaction was used to exclude uniparental disomy...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28032454/who-s-my-little-monkey-effects-of-infant-directed-speech-on-visual-retention-in-infant-rhesus-macaques
#6
Emily M Slonecker, Elizabeth A Simpson, Stephen J Suomi, Annika Paukner
Both human and nonhuman primate adults use infant-directed facial and vocal expressions across many contexts when interacting with infants (e.g., feeding, playing). This infant-oriented style of communication, known as infant-directed speech (IDS), seems to benefit human infants in numerous ways, including facilitating language acquisition. Given the variety of contexts in which adults use IDS, we hypothesized that IDS supports learning beyond the linguistic domain and that these benefits may extend to nonhuman primates...
December 29, 2016: Developmental Science
https://www.readbyqxmd.com/read/28018875/diagnostic-accuracy-of-developmental-screening-in-primary-care-at-the-18-month-health-supervision-visit-a-cross-sectional-study
#7
Meta van den Heuvel, Cornelia M Borkhoff, Christine Koroshegyi, Weeda Zabih, Sijmen A Reijneveld, Jonathon Maguire, Catherine Birken, Patricia Parkin
BACKGROUND: Communication delays are often the first presenting problem in infants with a range of developmental disabilities. Our objective was to assess the validity of the 18-month Nipissing District Developmental Screen compared with the Infant Toddler Checklist, a validated tool for detecting expressive language and other communication delays. METHODS: A cross-sectional design was used. Children aged 18-20 months were recruited during scheduled health supervision visits...
October 2016: CMAJ Open
https://www.readbyqxmd.com/read/28018439/phelan-mcdermid-syndrome-presenting-with-developmental-delays-and-facial-dysmorphisms
#8
Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo
Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28017373/mutations-in-ebf3-disturb-transcriptional-profiles-and-cause-intellectual-disability-ataxia-and-facial-dysmorphism
#9
Frederike Leonie Harms, Katta M Girisha, Andrew A Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark Tarnopolsky, Lynne M Bird, Sophia Ceulemans, Martina Bebin, Kevin M Bowling, Susan M Hiatt, Edward J Lose, Michelle Primiano, Wendy K Chung, Jane Juusola, Zeynep C Akdemir, Matthew Bainbridge, Wu-Lin Charng, Margaret Drummond-Borg, Mohammad K Eldomery, Ayman W El-Hattab, Mohammed A M Saleh, Stéphane Bézieau, Benjamin Cogné, Bertrand Isidor, Sébastien Küry, James R Lupski, Richard M Myers, Gregory M Cooper, Kerstin Kutsche
From a GeneMatcher-enabled international collaboration, we identified ten individuals affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying a deleterious EBF3 variant detected by whole-exome sequencing. One 9-bp duplication and one splice-site, five missense, and two nonsense variants in EBF3 were found; the mutations occurred de novo in eight individuals, and the missense variant c.625C>T (p.Arg209Trp) was inherited by two affected siblings from their healthy mother, who is mosaic...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28017372/a-syndromic-neurodevelopmental-disorder-caused-by-de-novo-variants-in-ebf3
#10
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G Pappas, Jill A Rosenfeld, Alexandra J McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft, Fan Xia, Nicholas Stong, Travis K Johnson, Coral G Warr, Shinya Yamamoto, David R Adams, Thomas C Markello, William A Gahl, Hugo J Bellen, Michael F Wangler, May Christine V Malicdan
Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with a range of nervous system developmental defects, including perturbation of neuronal development and migration. Interestingly, aristaless-related homeobox (ARX), a homeobox-containing transcription factor critical for the regulation of nervous system development, transcriptionally represses EBF3 expression...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28009229/transoral-robotic-surgery-for-sellar-tumors-first-clinical-study
#11
Dorian Chauvet, Stéphane Hans, Antoine Missistrano, Celeste Rebours, Wissame El Bakkouri, Guillaume Lot
OBJECTIVE The aim of this study was to confirm the feasibility of an innovative transoral robotic surgery (TORS), using the da Vinci Surgical System, for patients with sellar tumors. This technique was designed to offer a new minimally invasive approach, without soft-palate splitting, that avoids the rhinological side effects of classic endonasal approaches. METHODS The authors performed a prospective study of TORS in patients with symptomatic sellar tumors. Specific anatomical features were required for inclusion in the study and were determined on the basis of preoperative open-mouth CT scans of the brain...
December 23, 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28007517/re-emergent-tremor-in-parkinson-s-disease
#12
Daniele Belvisi, Antonella Conte, Matteo Bologna, Maria Carmela Bloise, Antonio Suppa, Alessandra Formica, Matteo Costanzo, Pierluigi Cardone, Giovanni Fabbrini, Alfredo Berardelli
INTRODUCTION: Re-emergent tremor (RET) is a postural tremor that appears after a variable delay in patients with Parkinson's disease (PD). The aim of the present study was to evaluate the occurrence and the clinical characteristics of RET in a population of patients with PD. METHODS: We consecutively assessed 210 patients with PD. We collected the patients' demographic and clinical data. RET was clinically characterized in terms of latency, severity and body side affected...
December 16, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28003643/kaufman-oculo-cerebro-facial-syndrome-in-a-child-with-small-and-absent-terminal-phalanges-and-absent-nails
#13
Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Alexandre Dionne-Laporte, Sirinart Molidperee, Kimia Najafi, Richard A Gibbs, Brendan H Lee, Raoul C Hennekam, Philippe M Campeau
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome...
December 22, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/28002479/recovernow-feasibility-of-a-mobile-tablet-based-rehabilitation-intervention-to-treat-post-stroke-communication-deficits-in-the-acute-care-setting
#14
Karen H Mallet, Rany M Shamloul, Dale Corbett, Hillel M Finestone, Simon Hatcher, Jim Lumsden, Franco Momoli, Michel C F Shamy, Grant Stotts, Richard H Swartz, Christine Yang, Dar Dowlatshahi
BACKGROUND: Approximately 40% of patients diagnosed with stroke experience some degree of aphasia. With limited health care resources, patients' access to speech and language therapies is often delayed. We propose using mobile-platform technology to initiate early speech-language therapy in the acute care setting. For this pilot, our objective was to assess the feasibility of a tablet-based speech-language therapy for patients with communication deficits following acute stroke. METHODS: We enrolled consecutive patients admitted with a stroke and communication deficits with NIHSS score ≥1 on the best language and/or dysarthria parameters...
2016: PloS One
https://www.readbyqxmd.com/read/28002083/the-effect-of-interaural-mismatches-on-contralateral-unmasking-with-single-sided-vocoders
#15
Jessica M Wess, Douglas S Brungart, Joshua G W Bernstein
OBJECTIVES: Cochlear-implant (CI) users with single-sided deafness (SSD)-that is, one normal-hearing (NH) ear and one CI ear-can obtain some unmasking benefits when a mixture of target and masking voices is presented to the NH ear and a copy of just the masking voices is presented to the CI ear. NH listeners show similar benefits in a simulation of SSD-CI listening, whereby a mixture of target and masking voices is presented to one ear and a vocoded copy of the masking voices is presented to the opposite ear...
December 19, 2016: Ear and Hearing
https://www.readbyqxmd.com/read/27995697/language-development-delay-and-intervention-the-views-of-parents-from-communities-that-speech-and-language-therapy-managers-in-england-consider-to-be-under-served
#16
Julie Marshall, Sam Harding, Sue Roulstone
BACKGROUND: Evidence-based practice includes research evidence, clinical expertise and stakeholder perspectives. Stakeholder perspectives are important and include parental ethno-theories, which embrace views about many aspects of speech, language and communication, language development, and interventions. The Developmental Niche Framework provides a useful theory to understand parental beliefs. Ethnotheories, including those about language development, delay and interventions, may vary cross culturally and are less well understood in relation to families who may be considered 'under-served' or 'hard-to-reach' by speech and language therapy services...
December 20, 2016: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/27993571/delayed-tongue-necrosis-simultaneous-with-bilateral-osteoradionecrosis-of-the-jaw-secondary-to-head-and-neck-irradiation
#17
Marcos Martins Curi, Camila Lopes Cardoso, Anthony Froy Condezo Benites, Patrícia Martins Bueno
We present a rare case of massive tongue necrosis occurring simultaneously with bilateral osteoradionecrosis (ORN) of the jaw in a patient with a history of treatment, including surgery and postoperative radiotherapy, for a retromolar trigone carcinoma 8 years earlier. There is a distinct possibility that the extractions and administration of local anesthesia with a vasoconstrictor contributed to the onset of ORN; together, these events may have influenced the blood supply to the tongue. A glossectomy was performed after hyperbaric oxygen therapy...
October 15, 2016: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/27989374/functional-quality-of-life-and-neurodevelopmental-outcomes-after-congenital-cardiac-surgery
#18
REVIEW
Megan L Ringle, Gil Wernovsky
Throughout the past few decades, advances in cardiology, neonatal intensive care, and surgical techniques have resulted in a growing cohort of thriving school-aged children with previously lethal complex congenital heart diseases. While survival has increased, there remains significant morbidity following repair including neurodevelopmental sequelae. Compared to children with a structurally normal heart, these infants and children have a higher frequency of abnormalities in tone, feeding, and delayed developmental milestones, as well as challenges with speech and learning disabilities, while a higher proportion of adolescents suffer from problems with processing speed, executive function, and a unique set of medical hardships related to exercise intolerance and obesity, medication burden, and mental health comorbidities...
December 2016: Seminars in Perinatology
https://www.readbyqxmd.com/read/27978564/declining-prevalence-of-hearing-loss-in-us-adults-aged-20-to-69-years
#19
Howard J Hoffman, Robert A Dobie, Katalin G Losonczy, Christa L Themann, Gregory A Flamme
Importance: As the US population ages, effective health care planning requires understanding the changes in prevalence of hearing loss. Objective: To determine if age- and sex-specific prevalence of adult hearing loss has changed during the past decade. Design, Setting, and Participants: We analyzed audiometric data from adults aged 20 to 69 years from the 2011-2012 cycle of the US National Health and Nutrition Examination Survey, a cross-sectional, nationally representative interview and examination survey of the civilian, noninstitutionalized population, and compared them with data from the 1999-2004 cycles...
December 15, 2016: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/27967287/early-therapy-services-following-neonatal-intensive-care-unit-discharge
#20
Odochi Nwabara, Cynthia Rogers, Terrie Inder, Roberta Pineda
AIMS: To (1) characterize early therapy services for preterm infants in the first two years of life, and (2) define factors related to accessing early therapy services. METHODS: Therapy utilization after discharge from the neonatal intensive care unit (NICU) was tracked in 57 infants born ≤30 weeks gestation from 2007 to 2010. Participants returned for developmental testing at two years. Factors related to early therapy utilization were explored. RESULTS: Fifty-two (91%) infants received a referral for therapy at NICU discharge but only 44 (77%) received at least one type of therapy during the first two years of life...
December 14, 2016: Physical & Occupational Therapy in Pediatrics
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