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Pediatric language delay

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https://www.readbyqxmd.com/read/28967605/-22q11-2%C3%A2-microdeletion-syndrome-analysis-of-the-care-pathway-before-the-genetic-diagnosis
#1
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...
September 26, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28925814/evaluation-of-pediatric-cochlear-implant-care-throughout-europe-is-european-pediatric-cochlear-implant-care-performed-according-to-guidelines
#2
Hanneke Bruijnzeel, Aren Bezdjian, Anke Lesinski-Schiedat, Angelika Illg, Konstance Tzifa, Luisa Monteiro, Antonio Della Volpe, Wilko Grolman, Vedat Topsakal
OBJECTIVES: International guidelines indicate that children with profound hearing loss should receive a cochlear implant (CI) soon after diagnosis in order to optimize speech and language rehabilitation. Although prompt rehabilitation is encouraged by current guidelines, delays in cochlear implantation are still present. This study investigated whether European countries establish timely pediatric CI care based on epidemiological, commercial, and clinical data. METHODS: An estimation of the number of pediatric CI candidates in European countries was performed and compared to epidemiological (Euro-CIU), commercial (Cochlear(®)), and clinical (institutional) age-at-implantation data...
September 19, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28922267/the-1-year-follow-up-clinic-for-neonates-and-children-after-respiratory-extracorporeal-membrane-oxygenation-support-a-10-year-single-institution-experience
#3
Suzan Kakat, Maura O'Callaghan, Liz Smith, Raymond Hreiche, Deborah A Ridout, Jo Wray, Timothy Thiruchelvam, Katherine L Brown, Aparna U Hoskote
OBJECTIVES: To establish the effectiveness of a "1-year extracorporeal membrane oxygenation follow-up clinic" and to characterize any neurodevelopmental concerns identified. DESIGN: Single-center retrospective cohort of respiratory extracorporeal membrane oxygenation survivors over 10 years. SETTING: Nationally commissioned center for neonatal and pediatric (> 28 d of life) respiratory extracorporeal membrane oxygenation. PATIENTS: Children attending the follow-up clinic 1 year after receiving respiratory extracorporeal membrane oxygenation between 2003 and 2013...
September 15, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28802365/exploring-reasons-for-late-identification-of-children-with-early-onset-hearing-loss
#4
Elizabeth M Fitzpatrick, Johnny Cesconetto Dos Santos, Viviane Grandpierre, JoAnne Whittingham
INTRODUCTION: Several studies have shown that early identification of childhood hearing loss leads to better language outcomes. However, delays in the confirmation of hearing loss persist even in the presence of well-established universal newborn hearing screening programs (UNHS). The objective of this population-based study was to document the proportion of children who experienced delayed confirmation of congenital and early onset hearing loss in a UNHS program in one region of Canada...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28782877/insurance-coverage-decisions-for-pediatric-proton-therapy
#5
Eric Ojerholm, Christine E Hill-Kayser
Proton beam therapy (PBT) holds promise for pediatric patients, but level 1 evidence is not available. In this context, we examined insurance coverage decisions at our facility from 2010 to 2015. PBT was initially denied for 11% of pediatric cases. However, nearly all denials were overturned on appeal-a process that often delayed care by more than a week. Despite unfavorable language in coverage policies, real-world decisions were eventual approval in >99% of cases. Payers appear to have largely accepted the current level-of-evidence for pediatric PBT, but all parties spend significant time and resources on appeals...
August 7, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28737141/designing-and-validation-of-a-hindi-language-parent-self-report-developmental-screening-tool
#6
Rahul Jain, Anshita Arora, Rohit Anand, Shahzadi Malhotra, Medha Mittal, Monica Juneja
AIM: To design and validate Hindi-language parent self-report developmental screening questionnaires for 9-month and 18-month-old Indian children. DESIGN: Cross-sectional study. SETTING: Tertiary-care pediatric hospital from April 2014 to March 2016. PARTICIPANTS: In each age group (9-month and 18-month), 45 children were enrolled for designing of questionnaires (30 for obtaining parental observations of current development and 15 for pre-testing)...
July 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28665808/disparities-in-access-to-pediatric-hearing-health-care
#7
Matthew L Bush, Michael R Kaufman, Beth N McNulty
PURPOSE OF REVIEW: There are significant disparities in care facing children with hearing loss. The objective of this review is to assess the current disparities in pediatric hearing healthcare delivery, describe the barriers of efficient and effective pediatric hearing health care, and explore the innovations to improve pediatric hearing healthcare delivery. RECENT FINDINGS: Children with hearing loss from certain geographic regions or ethnic background are significantly delayed in diagnosis and treatment...
June 29, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28658462/isotretinoin-and-timing-of-procedural-interventions-a-systematic-review-with-consensus-recommendations
#8
REVIEW
Leah K Spring, Andrew C Krakowski, Murad Alam, Ashish Bhatia, Jeremy Brauer, Joel Cohen, James Q Del Rosso, Lucia Diaz, Jeffrey Dover, Lawrence F Eichenfield, Geoffrey C Gurtner, C William Hanke, Marla N Jahnke, Kristen M Kelly, Shilpi Khetarpal, Megan A Kinney, Moise L Levy, James Leyden, Michael T Longaker, Girish S Munavalli, David M Ozog, Heidi Prather, Peter R Shumaker, Elizabeth Tanzi, Abel Torres, Mara Weinstein Velez, Abigail B Waldman, Albert C Yan, Andrea L Zaenglein
Importance: The notion that systemic isotretinoin taken within 6 to 12 months of cutaneous surgery contributes to abnormal scarring or delayed wound healing is widely taught and practiced; however, it is based on 3 small case series from the mid-1980s. Objective: To evaluate the body of literature to provide evidence-based recommendations regarding the safety of procedural interventions performed either concurrently with, or immediately following the cessation of systemic isotretinoin therapy...
August 1, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28654601/nonsyndromic-craniosynostosis-and-associated-abnormal-speech-and-language-development
#9
Sanjay Naran, Matthew Miller, Sameer Shakir, Benjamin Ware, Liliana Camison, Matthew Ford, Jesse Goldstein, Joseph E Losee
BACKGROUND: Although many metrics for neurodevelopment in children with nonsyndromic craniosynostosis have been analyzed, few have directly examined early language acquisition and speech development. The authors characterized language acquisition and speech development in children with nonsyndromic craniosynostosis. METHODS: The authors' institutional database was queried for nonsyndromic craniosynostosis from 2000 to 2014. Patients with an identified syndrome were excluded...
July 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28574593/early-versus-delayed-appendicectomy-for-appendiceal-phlegmon-or-abscess
#10
REVIEW
Yao Cheng, Xianze Xiong, Jiong Lu, Sijia Wu, Rongxing Zhou, Nansheng Cheng
BACKGROUND: Appendiceal phlegmon and abscess account for 2% to 10% of acute appendicitis. People with appendiceal phlegmon or abscess usually need an appendicectomy to relieve their symptoms and avoid complications. The timing of appendicectomy for appendiceal phlegmon or abscess is controversial. OBJECTIVES: To assess the effects of early versus delayed appendicectomy for appendiceal phlegmon or abscess, in terms of overall morbidity and mortality. SEARCH METHODS: We searched the Cochrane Library (CENTRAL; 2016, Issue 7), MEDLINE Ovid (1950 to 23 August 2016), Embase Ovid (1974 to 23 August 2016), Science Citation Index Expanded (1900 to 23 August 2016), and the Chinese Biomedical Literature Database (CBM) (1978 to 23 August 2016)...
June 2, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28567798/management-for-intussusception-in-children
#11
REVIEW
Steven Gluckman, Jonathan Karpelowsky, Angela C Webster, Richard G McGee
BACKGROUND: Intussusception is a common abdominal emergency in children with significant morbidity. Prompt diagnosis and management reduces associated risks and the need for surgical intervention. Despite widespread agreement on the use of contrast enema as opposed to surgery for initial management in most cases, debate persists on the appropriate contrast medium, imaging modality, pharmacological adjuvant, and protocol for delayed repeat enema, and on the best approach for surgical management for intussusception in children...
June 1, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28516192/the-value-of-gesell-score-in-predicting-the-outcome-of-cochlear-implantation-in-children
#12
Yang Yang, Liu Haihong, Zheng Jun, Chen Min, Li Ying, Hao Jinsheng, Liu Wei, Zhang Jie, Ni Xin
The purpose is to determine the value of preoperative evaluation on developmental levels using Gesell score in predicting the postoperative outcome in pediatric cochlear implantation (CI) recipients. 78 children who underwent CI were included in our study. Age at the time of CI ranged from 6 to 67 months. The Gesell score including adaptability, fine motor, gross motor, language, and social skill was used for evaluating the patients' developmental levels before the CI, and a developmental quotient (DQ) was calculated by the following formula: (developmental age/actual age) × 100...
July 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28515550/communication-impairments-in-children-with-inborn-errors-of-metabolism-a-preliminary-study
#13
Shivani Tiwari, Divya Kallianpur, Kelly Ann DeSilva
PURPOSE: Inborn Errors of Metabolism (IEMs) are a group of complex genetic conditions, predominantly affecting the pediatric population. While the understanding and identification of various IEMs has significantly improved over recent times, not much is known about the communication disorders in this population. The present study focused on identification and profiling of communication impairments in children diagnosed with IEMs. METHODS: Data was obtained retrospectively from medical records of children visiting a tertiary care hospital over a period of ten years (2005 - 2014)...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28506334/-mecp2-duplication-syndrome-a-clinical-analysis-of-three-cases-and-literature-review
#14
REVIEW
Dan-Xia Tang, Dong-Fang Li, Ruo-Hao Wu, Li-Na Zhang, Xiang-Yang Luo
MECP2 duplication syndrome (MDS) is a rare pediatric disease and mainly manifests as delayed motor development, language loss or delay, recurrent infection, severe intellectual disability, epilepsy, autistic symptoms, and early infantile hypotonia. In this article, the three children with this disease were all boys. Cases 1 and 2 had delayed motor development, and language loss or delay as initial manifestations, and case 3 had recurrent infection as initial manifestation. Physical examination showed hypotonia and negative pathological signs in each case...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28458577/ambulatory-anesthetic-care-in-children-undergoing-myringotomy-and-tube-placement-current-perspectives
#15
REVIEW
Hal Robinson, Thomas Engelhardt
PURPOSE: Myringotomy and tube placement is one of the most frequently performed ear, nose and throat (ENT) surgeries in the pediatric population. Effective anesthetic management is vital to ensuring successful ambulatory care and ensuring child and parental satisfaction. RECENT FINDINGS: This review summarizes recently published studies about the long-term effects of general anesthesia in young children, novel approaches to preoperative fasting and simplified approaches to the assessment and management of emergence delirium (ED) and emergence agitation (EA)...
2017: Local and Regional Anesthesia
https://www.readbyqxmd.com/read/28335910/management-strategies-for-cln2-disease
#16
REVIEW
Ruth E Williams, Heather R Adams, Martin Blohm, Jessica L Cohen-Pfeffer, Emily de Los Reyes, Jonas Denecke, Kristen Drago, Charlie Fairhurst, Margie Frazier, Norberto Guelbert, Szilárd Kiss, Annamaria Kofler, John A Lawson, Lenora Lehwald, Mary-Anne Leung, Svetlana Mikhaylova, Jonathan W Mink, Miriam Nickel, Renée Shediac, Katherine Sims, Nicola Specchio, Meral Topcu, Ina von Löbbecke, Andrea West, Boris Zernikow, Angela Schulz
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death. No management guidelines exist and there is a paucity of published disease-specific evidence to inform clinical practice, which currently draws upon experience from the field of childhood neurodisability...
April 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28323747/supporting-a-youth-with-cerebellar-ataxia-into-adolescence
#17
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...
April 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28259707/clinical-and-molecular-phenotyping-of-a-child-with-hermansky-pudlak-syndrome-7-an-uncommon-genetic-type-of-hps
#18
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...
April 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28240649/can-we-identify-parents-who-do-not-verbally-share-concerns-for-their-children-s-development
#19
Matthew Eremita, Eileen Semancik, Trudy Lerer, Paul H Dworkin
OBJECTIVE: We aimed to identify characteristics of parents who do not voice developmental concerns when prompted by their children's nurse and/or primary care provider (PCP), despite reporting concerns on parent-completed questionnaires. METHODS: We reviewed 376 medical records of children seen for a 9-month well-child visit in an urban pediatric clinic between September 2011 and December 2012 for sociodemographic variables hypothesized to affect parents' sharing of developmental concerns: the child's birth order and gender; parents' education level, employment, relationship status, and primary language; and family size and racial/ethnic background...
April 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28141690/predicting-late-follow-up-and-understanding-its-consequences-in-growth-modulation-for-pediatric-lower-limb-deformities
#20
Cheryl Lawing, Adam Margalit, Gift Ukwuani, Paul D Sponseller
BACKGROUND: Growth modulation with implants facilitates correction of angular deformities and limb-length discrepancies (LLDs) in children. Close follow-up is necessary when using growth modulation to prevent overcorrection. We examined factors associated with late follow-up and overcorrection rates in patients with late versus timely follow-up. METHODS: This was a retrospective review of growth modulation procedures in children at 1 institution from 2000 through 2014...
January 30, 2017: Journal of Pediatric Orthopedics
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