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https://www.readbyqxmd.com/read/28333354/men-s-knowledge-attitudes-and-behaviours-relating-to-fertility
#1
Karin Hammarberg, Veronica Collins, Carol Holden, Kate Young, Robert McLachlan
BACKGROUND: The increasingly common practice in high-income countries to delay childbearing to the fourth and fifth decades of life increases the risk of involuntary childlessness or having fewer children than desired. Older age also increases the risk of age-related infertility, the need for ART to conceive, and obstetric and neonatal complications. Existing research relating to childbearing focusses almost exclusively on women, and in public discourse declining fertility rates are often assumed to be the result of women delaying childbearing to pursue other life goals such as a career and travel...
March 10, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28329403/language-development-in-children-with-cleft-palate-with-or-without-cleft-lip-adopted-from-non-english-speaking-countries
#2
Amy R Morgan, Claudia Crilly Bellucci, Jody Coppersmith, Sebastian B Linde, Arthur Curtis, Meredith Albert, Mary M O'Gara, Kathleen Kapp-Simon
Purpose: The purpose of this study was to determine whether language skills differed between children with cleft palate or cleft lip and palate (CP±CL) who were adopted into an English-speaking home from a non-English-speaking country (late English exposure [LE]) and children with CP±CL raised from birth in an English-speaking home (early English exposure [EE]). Method: Children (51 LE, 67 EE), ages 3;0 (years;months) to 9;0, completed the Clinical Evaluation of Language Fundamentals (CELF), Preschool Second Edition or Fourth Edition...
March 22, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28323747/supporting-a-youth-with-cerebellar-ataxia-into-adolescence
#3
Veronica Meneses, Zurisadai Gonzalez-Castillo, Veronica B Edgar, Marilyn Augustyn
Zoe, a 13-year-old white girl, presents as a new patient to your pediatric clinic with complaints of frequent emesis, anxiety, and learning problems, and previous diagnosis of cerebellar ataxia. Parents accompany Zoe and state, "it is really hard for her to go out, she gets sick and falls easily." She was born full term by vaginal delivery without complications. Given globally delayed milestones, she received early intervention services. Feeding problems began at infancy, including gastroesophageal reflux and aspiration pneumonia...
March 17, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28322905/bilingualism-delays-the-onset-of-behavioural-but-not-aphasic-forms-of-frontotemporal-dementia
#4
Suvarna Alladi, Thomas H Bak, Mekala Shailaja, Divyaraj Gollahalli, Amuya Rajan, Bapiraju Surampudi, Michael Hornberger, Vasanta Duggirala, Jaydip Ray Chaudhuri, Subhash Kaul
Bilingualism has been found to delay onset of dementia and this has been attributed to an advantage in executive control in bilinguals. However, the relationship between bilingualism and cognition is complex, with costs as well as benefits to language functions. To further explore the cognitive consequences of bilingualism, the study used Frontotemporal dementia (FTD) syndromes, to examine whether bilingualism modifies the age at onset of behavioural and language variants of Frontotemporal dementia (FTD) differently...
March 17, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28302161/cognitive-profile-in-prodromal-dementia-with-lewy-bodies
#5
Jennifer Kemp, Nathalie Philippi, Clélie Phillipps, Catherine Demuynck, Timothée Albasser, Catherine Martin-Hunyadi, Catherine Schmidt-Mutter, Benjamin Cretin, Frédéric Blanc
BACKGROUND: Cortical and subcortical cognitive impairments have been found in dementia with Lewy bodies (DLB). Roughly, they comprise visuoconstructive and executive dysfunction, whereas memory would remain relatively spared. However, the cognitive profile of patients with prodromal DLB remains poorly illustrated to date. METHODS: We included 37 patients with prodromal DLB (age 67.2 ± 8.6 years, 18 men, Mini Mental State Examination [MMSE] score 27.4 ± 2) and 29 healthy control subjects (HCs; age 68...
March 16, 2017: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/28300582/electrophysiological-correlates-of-semantic-anticipation-during-speech-comprehension
#6
Patricia León Cabrera, Antoni Rodríguez-Fornells, Joaquín Morís
Words that are more predictable given a previous context show facilitated processing over low predictable ones. Such facilitation has been traditionally viewed as associated with reduced amplitudes in the N400 component. However, this effect is observed during the presentation of the target word, and it does not provide direct information about the prediction processes engaged before. To overcome this, we investigated neural correlates of anticipation prior to target words using an auditory paradigm. The semantic context of the sentences varied in the degree of contextual constraint, with sentences of high, low or no constraint...
March 11, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28299880/rates-of-autism-and-potential-risk-factors-in-children-with-congenital-heart-defects
#7
Jessica L Bean Jaworski, Thomas Flynn, Nancy Burnham, Jesse L Chittams, Therese Sammarco, Marsha Gerdes, Judy C Bernbaum, Robert R Clancy, Cynthia B Solot, Elaine H Zackai, Donna M McDonald-McGinn, J William Gaynor
OBJECTIVE: Atypical development, behavioral difficulties, and academic underachievement are common morbidities in children with a history of congenital heart defects and impact quality of life. Language and social-cognitive deficits have been described, which are associated with autism spectrum disorders. The current study aimed to assess the rates of autism spectrum disorders in a large sample of children with a history of congenital heart defects and to assess medical, behavioral, and individual factors that may be associated with the risk of autism spectrum disorders...
March 16, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28299009/clinical-practice-guidelines-for-prevention-diagnosis-and-management-of-early-and-delayed-onset-ocular-injuries-due-to-mustard-gas-exposure
#8
Zhale Rajavi, Sare Safi, Mohammad Ali Javadi, Mohammad Reza Jafarinasab, Sepehr Feizi, Mohammadreza Sedighi Moghadam, Khosrow Jadidi, Mahmoud Babaei, Armin Shirvani, Alireza Baradaran-Rafii, Hossein Mohammad-Rabei, Hossein Ziaei, Mohammad Ghassemi-Broumand, Siamak Delfaza Baher, Mostafa Naderi, Mahmoodreza Panahi-Bazaz, Siamak Zarei-Ghanavati, Shahriar Hanjani, Hassan Ghasemi, Ramin Salouti, Mojgan Pakbin, Bahareh Kheiri
PURPOSE: To develop clinical practice guidelines (CPGs) for prevention, diagnosis, treatment and follow-up of ocular injuries caused by exposure to mustard gas. METHODS: The clinical questions were designed by the guideline team. Websites and databases including National Guidelines Clearinghouse, National Institute for Clinical Excellence, Cochrane, and PubMed were searched to find related CPGs and explore possible answers to the clinical questions. Since there were no relevant CPGs in the literature, related articles in Persian and English languages were extracted...
January 2017: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/28296084/de-novo-loss-of-function-variants-in-stag2-are-associated-with-developmental-delay-microcephaly-and-congenital-anomalies
#9
Sureni V Mullegama, Steven D Klein, Milene V Mulatinho, Tharanga Niroshini Senaratne, Kathryn Singh, Dzung C Nguyen, Natalie M Gallant, Samuel P Strom, Shahnaz Ghahremani, Nagesh P Rao, Julian A Martinez-Agosto
The cohesin complex is an evolutionarily conserved multi-subunit protein complex which regulates sister chromatid cohesion during mitosis and meiosis. Additionally, the cohesin complex regulates DNA replication, DNA repair, and transcription. The core of the complex consists of four subunits: SMC1A, SMC3, RAD21, and STAG1/2. Loss-of-function mutations in many of these proteins have been implicated in human developmental disorders collectively termed "cohesinopathies." Through clinical exome sequencing (CES) of an 8-year-old girl with a clinical history of global developmental delay, microcephaly, microtia with hearing loss, language delay, ADHD, and dysmorphic features, we describe a heterozygous de novo variant (c...
March 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28295208/naturalistic-language-recordings-reveal-hypervocal-infants-at-high-familial-risk-for-autism
#10
Meghan R Swanson, Mark D Shen, Jason J Wolff, Brian Boyd, Mark Clements, James Rehg, Jed T Elison, Sarah Paterson, Julia Parish-Morris, J Chad Chappell, Heather C Hazlett, Robert W Emerson, Kelly Botteron, Juhi Pandey, Robert T Schultz, Stephen R Dager, Lonnie Zwaigenbaum, Annette M Estes, Joseph Piven
Children's early language environments are related to later development. Little is known about this association in siblings of children with autism spectrum disorder (ASD), who often experience language delays or have ASD. Fifty-nine 9-month-old infants at high or low familial risk for ASD contributed full-day in-home language recordings. High-risk infants produced more vocalizations than low-risk peers; conversational turns and adult words did not differ by group. Vocalization differences were driven by a subgroup of "hypervocal" infants...
March 10, 2017: Child Development
https://www.readbyqxmd.com/read/28284390/creatine-defects-and-central-nervous-system
#11
Carmen Fons, Jaume Campistol
Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by intellectual disability, language delay, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain. Synthesis defects are treatable, therefore an early diagnosis and treatment is essential. The aim of this article is to review the Cr metabolism and function in the central nervous system. We describe the optimal diagnostic protocol in Cr deficiency syndromes based on biochemical methods, neuroradiological (1H-MRS), and molecular analysis...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28283996/the-design-and-validation-of-a-child-developmental-e-screening-system
#12
Hsin-Yi Kathy Cheng, Hsien-Tsung Chang, Po-Hsin Huang, Yan-Ying Ju, Li-Ying Chen, Kevin C Tseng
An effective screening test could significantly impact identification of developmental delays at an early age. However, many studies have shown that delay screenings still use text-based screening survey questionnaires. Unfortunately, the traditional text-based screening method tends to be fairly passive. In addition, the advantages of using an interactive system and animation have been shown to lead to positive effects on learning in medical research. Therefore, a multimedia screening system is necessary. This study constructs a system architecture to develop an e-screening system for child developmental delays...
April 2017: Journal of Medical Systems
https://www.readbyqxmd.com/read/28278741/the-role-of-motion-and-intensity-in-deaf-children-s-recognition-of-real-human-facial-expressions-of-emotion
#13
Anna C Jones, Roberto Gutierrez, Amanda K Ludlow
There is substantial evidence to suggest that deafness is associated with delays in emotion understanding, which has been attributed to delays in language acquisition and opportunities to converse. However, studies addressing the ability to recognise facial expressions of emotion have produced equivocal findings. The two experiments presented here attempt to clarify emotion recognition in deaf children by considering two aspects: the role of motion and the role of intensity in deaf children's emotion recognition...
February 14, 2017: Cognition & Emotion
https://www.readbyqxmd.com/read/28265795/brief-report-the-ados-calibrated-severity-score-best-measures-autism-diagnostic-symptom-severity-in-pre-school-children
#14
Lisa D Wiggins, Brian Barger, Eric Moody, Gnakub Soke, Juhi Pandey, Susan Levy
The severity of autism spectrum disorder (ASD) is often measured by co-occurring conditions, such as intellectual disability or language delay, rather than deficits in social interaction, and restricted interests and repetitive behaviors. The Autism Diagnostic Observation Schedule calibrated severity score (ADOS CSS) was created to facilitate comparison of the diagnostic features of ASD independent of related conditions over time. We examined the relationship between the ADOS CSS, ADOS total score, and clinician rated degree of impairment (DOI) in the Study to Explore Early Development...
March 6, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28259707/clinical-and-molecular-phenotyping-of-a-child-with-hermansky-pudlak-syndrome-7-an-uncommon-genetic-type-of-hps
#15
Melanie M Bryan, Nathanial J Tolman, Karen L Simon, Marjan Huizing, Robert B Hufnagel, Brian P Brooks, Vladislav Speransky, James C Mullikin, William A Gahl, May Christine V Malicdan, Bernadette R Gochuico
PURPOSE: Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder with ten reported genetic types; each type has defects in subunits of either Adaptor Protein-3 complex or Biogenesis of Lysosome-related Organelles Complex (BLOC)-1, -2, or -3. Very few patients with BLOC-1 deficiency (HPS-7, -8, and -9 types) have been diagnosed. We report results of comprehensive clinical testing and molecular analyses of primary fibroblasts from a new case of HPS-7. RESULTS: A 6-year old Paraguayan male presented with hypopigmentation, ocular albinism, nystagmus, reduced visual acuity, and easy bruising...
February 27, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28259057/the-accuracy-of-the-bedside-swallowing-evaluation-for-detecting-aspiration-in-survivors-of-acute-respiratory-failure
#16
Ylinne T Lynch, Brendan J Clark, Madison Macht, S David White, Heather Taylor, Tim Wimbish, Marc Moss
BACKGROUND: Dysphagia with subsequent aspiration occurs in up to 60% of acute respiratory failure (ARF) survivors. Accurate bedside tests for aspiration can reduce aspiration-related complications while minimizing delay of oral nutrition. In a cohort of ARF survivors, we determined the accuracy of the bedside swallowing evaluation (BSE) and its components for detecting aspiration. METHODS: Patients who were extubated after at least 24hours of mechanical ventilation were eligible for enrollment...
February 15, 2017: Journal of Critical Care
https://www.readbyqxmd.com/read/28257530/comparing-the-effects-of-speech-generating-device-display-organization-on-symbol-comprehension-and-use-by-three-children-with-developmental-delays
#17
Andrea Barton-Hulsey, Jane Wegner, Nancy C Brady, Betty H Bunce, Rose A Sevcik
Purpose: Three children ages 3;6 to 5;3 with developmental and language delays were provided experience with a traditional grid-based display and a contextually organized visual scene display on a speech-generating device to illustrate considerations for practice and future research in augmentative and alternative communication assessment and intervention. Method: Twelve symbols were taught in a grid display and visual scene display using aided input during dramatic play routines...
March 2, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28255759/language-environment-analysis-lena-in-phelan-mcdermid-syndrome-validity-and-suggestions-for-use-in-minimally-verbal-children-with-autism-spectrum-disorder
#18
Jacquelin Rankine, Erin Li, Stacey Lurie, Hillary Rieger, Emily Fourie, Paige M Siper, A Ting Wang, Joseph D Buxbaum, Alexander Kolevzon
Phelan-McDermid syndrome (PMS) is a single-locus cause of developmental delay, autism spectrum disorder, and minimal verbal abilities. There is an urgent need to identify objective outcome measures of expressive language for use in this and other minimally verbal populations. One potential tool is an automated language processor called Language ENvironment Analysis (LENA). LENA was used to obtain over 542 h of audio in 18 children with PMS. LENA performance was adequate in a subset of children with PMS, specifically younger children and those with fewer stereotypic vocalizations...
March 2, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28253736/identification-of-developmental-and-behavioral-markers-associated-with-genetic-abnormalities-in-autism-spectrum-disorder
#19
Somer L Bishop, Cristan Farmer, Vanessa Bal, Elise B Robinson, A Jeremy Willsey, Donna M Werling, Karoline Alexandra Havdahl, Stephan J Sanders, Audrey Thurm
OBJECTIVE: Aside from features associated with risk of neurogenetic syndromes in general (e.g., cognitive impairment), limited progress has been made in identifying phenotype-genotype relationships in autism spectrum disorder (ASD). The objective of this study was to extend work in the Simons Simplex Collection by comparing the phenotypic profiles of ASD probands with or without identified de novo loss of function mutations or copy number variants in high-confidence ASD-associated genes or loci...
March 3, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/28250997/oral-health-characteristics-and-dental-rehabilitation-of-children-with-global-developmental-delay
#20
Saurabh Kumar, Deepika Pai, Runki Saran
Global developmental delay (GDD) is a chronic neurological disturbance which includes defects in one or more developmental domains. The developmental domain can be motor, cognitive, daily activities, speech or language, and social or personal development. The etiology for GDD can be prenatal, perinatal, or postnatal. It can be diagnosed early in childhood as the delay or absence of one or more developmental milestones. Hence the role of pedodontist and pediatricians becomes more crucial in identifying this condition...
2017: Case Reports in Dentistry
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