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Speech Delay

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181. De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea. Full Text available with Trip Pro

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea. Clinical whole-exome sequencing (WES) for identification of mutations leading to Mendelian disease has been offered to the medical community since 2011. Clinically undiagnosed neurological disorders are the most frequent basis for test referral, and currently, approximately 25% of such cases are diagnosed at the molecular level. To date, there are approximately 4,000 "known (...) -disease association discovery. Here, we describe four probands, all of whom presented with hypotonia, intellectual disability, global developmental delay, and mildly dysmorphic facial features. Three of the four also had sleep apnea. Each was a simplex case without a remarkable family history. Using WES, we identified AHDC1 de novo truncating mutations that most likely cause this genetic syndrome. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

2014 American Journal of Human Genetics

182. What an Otolaryngologist Should Know About Evaluation of a Child Referred for Delay in Speech Development. (Abstract)

for otolaryngologists that is helpful in the evaluation and management of children perceived to be delayed in developing speech.Data were obtained via literature searches, online databases, textbooks, and the most recent national guidelines on topics including speech delay and language delay and the underlying disorders that can cause delay in developing speech. Emphasis was placed on epidemiology, pathophysiology, most common presentation, and treatment strategies. Most of the sources referenced were published (...) within the past 5 years.Our article is a summary of major causes of speech delay based on reliable sources as listed herein.Speech delay can be the manifestation of a spectrum of disorders affecting the language comprehension and/or speech production pathways, ranging from disorders involving global developmental limitations to motor dysfunction to hearing loss. Determining the cause of a child's delay in speech production is a time-sensitive issue because a child loses valuable opportunities

2014 JAMA otolaryngology-- head & neck surgery

183. Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. Full Text available with Trip Pro

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. PTPN23 is a His-domain protein-tyrosine phosphatase implicated in ciliogenesis, the endosomal sorting complex required for transport (ESCRT) pathway, and RNA splicing. Until recently, no defined human phenotype had been associated with alterations in this gene. We identified and report a cohort of seven patients with either homozygous or compound (...) heterozygous rare deleterious variants in PTPN23. Combined with four patients previously reported, a total of 11 patients with this disorder have now been identified. We expand the phenotypic and variation spectrum associated with defects in this gene. Patients have strong phenotypic overlap, suggesting a defined autosomal recessive syndrome caused by reduced function of PTPN23. Shared characteristics of affected individuals include developmental delay, brain abnormalities (mainly ventriculomegaly

2019 European Journal of Human Genetics

184. Autism spectrum disorder and neurodevelopmental delays in children with giant omphalocele. (Abstract)

(prior 2006) or III (after 2006), or the Wechsler Preschool and Primary Scale of Intelligence (children older than 4 years). ASD diagnosis was made based on the Diagnostic and Statistical Manual of Mental Disorders IV (prior to 2014) or 5 criteria.The prevalence of ASD in GO children is 16 times higher than the general population (P = 0.0002). ASD patients were more likely to be diagnosed with neurodevelopmental and neurofunctional delays, language disorders, and genetic abnormalities (P < 0.01 (...) survivors. Neurodevelopmental delays, language delays, and genetic abnormalities were strongly associated with ASD. Neurological impairments were present in nearly half of GO children. Surrogate markers of disease severity were associated with below average neurodevelopmental scores. Level of evidence Level IV.Copyright © 2019 Elsevier Inc. All rights reserved.

2019 Journal of Pediatric Surgery

185. Status of prehospital delay and intravenous thrombolysis in the management of acute ischemic stroke in Nepal. Full Text available with Trip Pro

Status of prehospital delay and intravenous thrombolysis in the management of acute ischemic stroke in Nepal. Intravenous thrombolysis has been recently introduced in Nepal for the management of acute ischemic stroke. Pre-hospital delay is one of the main reasons that hinder thrombolytic therapy. The objective of this study was to evaluate the status of prehospital delay and thrombolysis in Nepal.Data were prospectively collected from patients of both genders, age >  18 years who arrived (...) at the emergency department (ED) with symptoms and neuroimaging findings consistent with an ischemic stroke. Patient data were obtained from ED form and standard questionnaires were used to assess factors resulting in prehospital delay. Modified Rankin scale and National Institute of Health stroke scale were used to assess the degree of disability and severity of stroke respectively.A total of 228 patients were enrolled in the study between August 2017 and August 2018. Only 46 (20.17%) patients arrived within

2019 BMC Neurology

186. Vasospasm and delayed cerebral ischemia after uneventful clipping of an unruptured intracranial aneurysm - a case report. Full Text available with Trip Pro

Vasospasm and delayed cerebral ischemia after uneventful clipping of an unruptured intracranial aneurysm - a case report. Due to improvements in both the quality and availability of intracranial imaging as well as the evolution of surgical and endovascular techniques during the last decade, the number of treatments of unruptured intracranial aneurysms (UIA) has increased steadily. However, it is not generally known that vasospasm can arise after an uneventful clipping.We present a case of a 69 (...) -year-old woman who suffered from vasospasm and delayed cerebral ischemia that occurred after an uneventful clipping of a UIA. The aneurysm of the right middle cerebral artery was found incidentally via magnetic resonance imaging ordered after the patient complained of a short period of slight gait disturbances. To avoid a subarachnoid hemorrhage and consecutive complications like vasospasms, the patient elected microsurgical treatment. Clipping was managed by keyhole approach. Temporal clipping

2019 BMC Neurology

187. Praying until death: revisiting three delays model to contextualize the socio-cultural factors associated with maternal deaths in a region with high prevalence of eclampsia in India. Full Text available with Trip Pro

mortality in West Bengal, India.It was a retrospective mixed methods study, which used facility-based as well as community-based approaches to explore factors associated with maternal deaths. We reviewed 317 maternal death cases wherein a verbal autopsy technique was applied on 40 cases. The Chi-square test (χ2) and multivariable logistic regression model were employed to accomplish the study objectives.The delay in seeking care (Type 1 delay) was the most significant contributor to maternal deaths (...) belonged to Muslim community were 2.5 times and 1.6 times more likely to experience type 1 and 2 delays respectively than Hindu women. The verbal autopsies revealed that the type 1 delay is attributed to the underestimation of the gravity of the complications, cultural belief and customs. Recognition of danger signs, knowledge and attitude towards seeking medical care, arranging transport and financial constraints were the main barriers of delay in seeking care and reaching facility.The study found

2019 BMC Pregnancy and Childbirth

188. The immediate and delayed effects of single tDCS session over posterior parietal cortex on face-word associative memory. (Abstract)

The immediate and delayed effects of single tDCS session over posterior parietal cortex on face-word associative memory. Associative memory (AM), an ability to form and retrieve associations between information units is crucial for everyday functioning and is affected by aging as well as by different neurological conditions. It was shown that rTMS over posterior parietal cortex (PPC) can improve AM of face-word pairs. Therefore, we examined if tDCS will produce comparable effects and explore (...) whether the effect would persist one and five days following the stimulation. Thirty-seven healthy participants took part in cross-over sham-controlled study in which they received 20 min of anodal (1.5 mA) or sham tDCS over left PPC. Following tDCS participants completed face-cued word recall and verbal fluency tasks. A randomly selected subsample (N = 18) has completed follow up memory assessments one and five days after the stimulation. Anodal tDCS facilitated AM performance in comparison to sham

2019 Behavioural brain research Controlled trial quality: uncertain

189. [Evaluation of the efficacy of acupuncture combined with hyperbaric oxygen on delayed neuropathological sequelae after carbon monoxide poisoning by using mTI-ASL imaging]. (Abstract)

[Evaluation of the efficacy of acupuncture combined with hyperbaric oxygen on delayed neuropathological sequelae after carbon monoxide poisoning by using mTI-ASL imaging]. Quantitative assessment of white blood flow in semi-oval center of patients with delayed neuropathological sequelae (DNS) after carbon monoxide poisoning treated with acupuncture combined with hyperbaric oxygen (HBO) based on magnetic resonance multi-inversion time arterial spin labeling imaging (mTI-ASL), and to evaluate its (...) ), Fenglong (ST 40), Lianquan (CV 23) and Jinjin (EX-HN12) for slurred speech, Jianyu (LI 15), Waiguan (TE 5) and Shousanli (LI 10) for upper limb pain, Huantiao (GB 30), Yanglingquan (GB 34), Yinlingquan (SP 9) for lower limb pain, the treatment was given once every day, 5 days as one course, with an interval of 2 days between the course. The treatment for 6 courses was required. The conventional head MR scan, mTI-ASL and diffusion tensor imaging (DTI) scans before and 1 week after treatment were adopted

2019 Zhongguo zhen jiu = Chinese acupuncture & moxibustion Controlled trial quality: uncertain

190. BRIGHT Coaching: A Randomized Controlled Trial on the Effectiveness of a Developmental Coach System to Empower Families of Children With Emerging Developmental Delay. Full Text available with Trip Pro

BRIGHT Coaching: A Randomized Controlled Trial on the Effectiveness of a Developmental Coach System to Empower Families of Children With Emerging Developmental Delay. Background: In preschool-aged children with, or at elevated risk for, developmental disabilities, challenges and needs arise from vulnerabilities linked to critical and newly emerging cognitive, speech, motor, behavioral, and social skills. For families, this can be a stressful period as they witness the gradual unfolding (...) social supports, and decreasing the demands on the overwhelmed health and developmental services. The primary objective is to evaluate the feasibility and the effectiveness of a coaching intervention (in comparison to usual and locally available care), for parents of children with emerging developmental delays. Method/Design: A multi-centered pragmatic randomized controlled trial design will be used. Families will be recruited from a representative sample of those awaiting publicly-funded regional

2019 Frontiers in pediatrics Controlled trial quality: uncertain

191. Influence of timing of delayed hard palate closure on articulation skills in 3-year-old Danish children with unilateral cleft lip and palate. (Abstract)

significantly better than the EHPC and LHPC groups on all compared variables.© 2017 Royal College of Speech and Language Therapists. (...) Influence of timing of delayed hard palate closure on articulation skills in 3-year-old Danish children with unilateral cleft lip and palate. Differing results regarding articulation skills in young children with cleft palate (CP) have been reported and often interpreted as a consequence of different surgical protocols.To assess the influence of different timing of hard palate closure in a two-stage procedure on articulation skills in 3-year-olds born with unilateral cleft lip and palate (UCLP

2019 International Journal of Language & Communication Disorders Controlled trial quality: uncertain

192. Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. (Abstract)

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. The Integrator complex subunit 1 (INTS1) is a component of the integrator complex that comprises 14 subunits and associates with RPB1 to catalyze endonucleolytic cleavage of nascent snRNAs and assist RNA polymerase II in promoter-proximal pause-release on protein-coding genes. We present five patients, including two sib pairs, with biallelic sequence variants in INTS1. The patients (...) manifested absent or severely limited speech, an abnormal gait, hypotonia and cataracts. Exome sequencing revealed biallelic variants in INTS1 in all patients. One sib pair demonstrated a missense variant, p.(Arg77Cys), and a frameshift variant, p.(Arg1800Profs*20), another sib pair had a homozygous missense variant, p.(Pro1874Leu), and the fifth patient had a frameshift variant, p.(Leu1764Cysfs*16) and a missense variant, p.(Leu2164Pro). We also report additional clinical data on three previously

2019 European Journal of Human Genetics

193. Resistance training enhances delayed memory in healthy middle-aged and older adults: A randomised controlled trial. (Abstract)

-up within seven days. Data were collected September 2016-December 2017. Cognitive function assessed using the CogState computerised battery. Assessors were blinded to participant group allocation. Secondary outcomes were maximal muscle strength and body composition.Forty-four participants were analysed in 2018. Delayed verbal memory performance was improved (p=0.02) in resistance training groups (g=0.67-0.79) when compared to the control group, with no differences between training groups (...) . Likewise, increases in maximal muscle strength were observed (p<0.01) in resistance training groups when compared to the control group, with no differences between training groups. No differences in body composition were observed. There were no adverse events or side-effects of the intervention.12 weeks of intense resistance training improves delayed verbal memory irrespective of training design (i.e., high-load vs. moderate-load).This study is registered at www.anzctr.org.au ACTRN12616000690459

2019 Journal of Science and Medicine in Sport Controlled trial quality: uncertain

194. Detecting Developmental Delay and Autism Through Machine Learning Models Using Home Videos of Bangladeshi Children: Development and Validation Study. Full Text available with Trip Pro

of US-based children, identifying a reduced subset of behavioral features that are scored by untrained raters using a machine learning classifier to determine children's "risk scores" for autism. We achieved an accuracy of 92% (95% CI 88%-97%) on US videos using a classifier built on five features.Using videos of Bangladeshi children collected from Dhaka Shishu Children's Hospital, we aim to scale our pipeline to another culture and other developmental delays, including speech and language (...) Detecting Developmental Delay and Autism Through Machine Learning Models Using Home Videos of Bangladeshi Children: Development and Validation Study. Autism spectrum disorder (ASD) is currently diagnosed using qualitative methods that measure between 20-100 behaviors, can span multiple appointments with trained clinicians, and take several hours to complete. In our previous work, we demonstrated the efficacy of machine learning classifiers to accelerate the process by collecting home videos

2019 Journal of medical Internet research

195. First Implant-Induced Changes in Rostral Brainstem Impair Second Implant Outcomes in Sequential Bilateral Cochlear Implant Children With Long Inter-Implant Delay. (Abstract)

with implant use was compared between the CI1 and CI2 sides. Their speech perception scores were evaluated 3 years after the second implantation.eIII-eV slopes evoked by the CI2 showed less mature pattern than those by the CI1. This CI2 versus CI1 difference in eIII-eV slopes, however, reduced as the inter-implant delay was prolonged, suggesting CI1-induced maturation of the rostral brainstem innervating the second ear before the second implantation. The smaller CI2 versus CI1 difference in eIII-eV slopes (...) First Implant-Induced Changes in Rostral Brainstem Impair Second Implant Outcomes in Sequential Bilateral Cochlear Implant Children With Long Inter-Implant Delay. Long-term unilateral use of a cochlear implant (CI) induces abnormal maturation of the rostral brainstem innervating the contralateral ear.In sequential bilateral CI children with long inter-implant delay, both sides of auditory cortices were dominantly activated by the first CI, but mechanisms of this abnormal development

2019 Otology and Neurotology

196. Delays in palliative care referral among surgical patients: perspectives of surgical residents across the state of Michigan. (Abstract)

Delays in palliative care referral among surgical patients: perspectives of surgical residents across the state of Michigan. Palliative care services (PCS) are underutilized and frequently delayed among surgical patients. Surgical residents often serve at the forefront for patient issues, including conducting conversations regarding prognosis and goals of care.This qualitative study identifies critical barriers to palliative care referral among seriously-ill surgical patients from (...) hierarchy; and 4) surgeon mentality. Residents consistently expressed challenges in predicting patient outcomes, and verbalizing this to both attendings and families augmented this uncertainty in seeking PCS. Communicative challenges included managing discordant provider opinions and the stigma associated with PCS. Finally, residents perceived that an attending surgeon's decisive authority and mentality negatively influenced the delivery of PCS.Among resident trainees, unpredictable patient outcomes led

2019 Journal of pain and symptom management

197. Noxafil delayed-release tablets

Noxafil delayed-release tablets Drug Approval Package: Brand Name (Generic Name) NDA # Drug Approval Package U.S. Food & Drug Administration Search FDA Drug Approval Package - Noxafil delayed-release tablets Company: Merck Sharp & Dohme Corp. Application No.: 205053 Approval Date: 11/25/2013 Persons with disabilities having problems accessing the PDF files below may call (301) 796-3634 for assistance. (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) Date created (...) : February 27, 2013 Vision impaired people having problems accessing certain pages of a PDF file may call (301) 796-3634 for assistance. Note: Documents in PDF format require the . - - Links on this page: Note: If you need help accessing information in different file formats, see . Language Assistance Available: | | | | | | | | | | | | | | | U.S. Food and Drug Administration 10903 New Hampshire Avenue Silver Spring, MD 20993 Ph. 1-888-INFO-FDA (1-888-463-6332) Links on this page:

2013 FDA - Drug Approval Package

198. Diclegis (doxylamine succinate and pyridoxine hydrochloride) Delayed-Release Tablets

Diclegis (doxylamine succinate and pyridoxine hydrochloride) Delayed-Release Tablets Drug Approval Package: Brand Name (Generic Name) NDA # Drug Approval Package U.S. Food & Drug Administration Search FDA Drug Approval Package - Diclegis (doxylamine succinate and pyridoxine hydrochloride) Delayed-Release Tablets Company: Duchesnay Inc. Application No.: 021876 Approval Date: 4/08/2013 Persons with disabilities having problems accessing the PDF files below may call (301) 796-3634 for assistance (...) . (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) Date created: March 25, 2014 Vision impaired people having problems accessing certain pages of a PDF file may call (301) 796-3634 for assistance. Note: Documents in PDF format require the . - - Links on this page: Note: If you need help accessing information in different file formats, see . Language Assistance Available: | | | | | | | | | | | | | | | U.S. Food and Drug Administration 10903 New Hampshire Avenue

2013 FDA - Drug Approval Package

199. Esomeprazole Strontium Delayed-Release Capsules

Esomeprazole Strontium Delayed-Release Capsules Drug Approval Package: Brand Name (Generic Name) NDA # Drug Approval Package U.S. Food & Drug Administration Search FDA Drug Approval Package - Esomeprazole Strontium Delayed-Release Capsules Company: Hanmi USA Inc. Application No.: 202342 Approval Date: 08/06/2013 Persons with disabilities having problems accessing the PDF files below may call (301) 796-3634 for assistance. (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF) (PDF (...) ) (PDF) Date created: January 8, 2014 Vision impaired people having problems accessing certain pages of a PDF file may call (301) 796-3634 for assistance. Note: Documents in PDF format require the . - - Links on this page: Note: If you need help accessing information in different file formats, see . Language Assistance Available: | | | | | | | | | | | | | | | U.S. Food and Drug Administration 10903 New Hampshire Avenue Silver Spring, MD 20993 Ph. 1-888-INFO-FDA (1-888-463-6332) Links on this page:

2013 FDA - Drug Approval Package

200. Speech-in-noise perception in musicians: a review. (Abstract)

Speech-in-noise perception in musicians: a review. The ability to understand speech in the presence of competing sound sources is an important neuroscience question in terms of how the nervous system solves this computational problem. It is also a critical clinical problem that disproportionally affects the elderly, children with language-related learning disorders, and those with hearing loss. Recent evidence that musicians have an advantage on this multifaceted skill has led to the suggestion (...) that musical training might be used to improve or delay the decline of speech-in-noise (SIN) function. However, enhancements have not been universally reported, nor have the relative contributions of different bottom-up versus top-down processes, and their relation to preexisting factors been disentangled. This information that would be helpful to establish whether there is a real effect of experience, what exactly is its nature, and how future training-based interventions might target the most relevant

2017 Hearing Research

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