RESUMO
BACKGROUND: High-intensity focused ultrasound (HIFU) is a less invasive option offered for the treatment of large, compressive, benign thyroid nodules. METHODS: Observational studies of more than five participants using HIFU in the management of benign thyroid nodules from 2000 to 2021 were identified using predefined inclusion criteria. The primary outcome was an estimate of the effectiveness of HIFU. RESULTS: Out of 158 studies reviewed, 8 articles were included with 297 patients and 300 nodules. HIFU significantly reduced nodule volume from 1 to 24 months following therapy (weighted mean difference [WMD], 47.68, 95 % confidence interval [CI], 34.13-59.66, p < 0.0001) and achieved favorable success rates (risk ratio [RR], 1.49, 95 % CI, 1.15-1.84, p < 0.001) for 50 % volume reduction. CONCLUSIONS: HIFU appears to be a feasible, safe, and effective treatment modality for patients with benign thyroid nodules. Future research, including randomized controlled trials, is needed to determine therapy optimization, and patient selection to identify the potential role of this new therapy.
Assuntos
Ablação por Ultrassom Focalizado de Alta Intensidade , Nódulo da Glândula Tireoide , Humanos , Nódulo da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/cirurgia , Resultado do Tratamento , Seleção de Pacientes , Razão de Chances , Estudos Observacionais como AssuntoRESUMO
RATIONALE: Ayurvedic herbal medicines are administered as part of disease management for many neurodevelopmental disorders like Autism Spectrum Disorder (ASD) and linked comorbid challenges. The biochemistry of the behavioral abnormalities as observed in comorbid conditions is already reported to involve neurotransmitters like gamma-aminobutyric acid (GABA), serotonin (5-HT) and dopamine (DA). The aim of our study is to evaluate the effect of ayurvedic medicines on neurotransmitter levels in IMR 32. Such a study will give some insight into the molecular mechanism of the action of these medicines and help us to understand their contributions in neurotransmitter homeostasis. METHODS: Solutions of Brahmi, Brahmi vati, Brahmi ghrita and Saraswata ghrita, each at 50 µM, were added to differentiated IMR 32 cells and grown for 24 h. The cell secretion was analysed by ultra-fast liquid chromatography/mass spectrometry (UFLC/MS) in electrospray ionisation (ESI) mode for the neurotransmitters DA, 5-HT and GABA. The mobile phase selected was 0.1% formic acid with 15 µg/mL Na2 -EDTA (A) and 0.1% formic acid in acetonitrile (B) introduced in the ratio of 92:8. RESULTS: All neurotransmitters under study were eluted within 7 min with GABA eluting at 3.82 min, 5-HT at 4.48 min and DA at 5.47 min, respectively. Linearity was excellent with a correlation coefficient (R(2) ) of 0.999; repeatability and accuracy were also within acceptable range. All herbal drugs evaluated increased the neurotransmitter levels and Brahmi vati increased the neurotransmitter levels to a larger extent. CONCLUSIONS: Decreased levels of neurotransmitters were observed in behavioral abnormalities which were also observed in children with ASD. Herbal medicines given as part of ayurvedic medicine increased the neurotransmitter levels in IMR 32. Thus, these ayurvedic medicines when prescribed to children with ASD might alleviate the abnormal behavioral symptoms by maintaining neurotransmitter homeostasis. Copyright © 2016 John Wiley & Sons, Ltd.
Assuntos
Cromatografia Líquida de Alta Pressão , Ayurveda , Neurotransmissores/metabolismo , Transtorno do Espectro Autista/tratamento farmacológico , Transtorno do Espectro Autista/fisiopatologia , Linhagem Celular , HumanosRESUMO
INTRODUCTION: Developmental delay (DD) affects one in six children and has been shown to require more health care than the average child [1-2]. Certain recent studies have suggested an increased rate of complications/costs in children with DD [3-5]. Our objective was to perform a retrospective study comparing DD children to non-DD controls in patients presenting for tonsillectomy over a 1-year period to further define the relationship between DD and post-operative complications. METHODS: We conducted a retrospective chart review of children undergoing tonsillectomy over a one-year period. We collected demographic information, polysomnogram, comorbidities, complications, and length of stay. A diagnosis of developmental delay was considered if recorded prior to the tonsillectomy or workup was ongoing at the time of tonsillectomy. All data was analyzed using IBM SPSS Statistics 25. RESULTS: The final cohort included 400 patients. Our cohort had 56 patients with diagnosis of DD. We recorded 18 complications in the DD population (32.14%) compared to 30 complications in the control group (8.72%) (p < 0.00001). Children with DD had higher incidence of comorbidities (p < 0.00001), complication with comorbidities (p < 0.00001), and incidence of prematurity (p < 0.00001); whereas, they did not have increased length of stay (LOS) (p = 0.33) or complications if premature (p = 0.22). Pre-operative polysomnogram was associated with higher incidence of complication (p = 0.035) in the total population but children with DD did not have higher pre-operative obstructive apnea-hypopnea index (oAHI)compared to the control patients (p = 0.25). CONCLUSION: Children with DD were found to have a significantly higher complication rate compared to children without DD in our patient population. They did have higher incidence of additional comorbidities and prematurity. This elevated risk should at least be included in pre-operative counseling, but additionally has potential implications for pre-operative decision making and treatment plans in this high-risk population.
Assuntos
Apneia Obstrutiva do Sono , Tonsilectomia , Criança , Humanos , Tonsilectomia/efeitos adversos , Estudos Retrospectivos , Adenoidectomia/efeitos adversos , Apneia Obstrutiva do Sono/cirurgia , Tempo de Internação , Complicações Pós-Operatórias/etiologiaRESUMO
OBJECTIVES/HYPOTHESIS: For patients with submandibular sialolithiasis, there are many gland-preserving treatment options including sialendoscopy. Sialendoscopy, however, requires expensive instrumentation with limited availability, which may not be required for routine cases. The objective of this study is to compare the outcomes of patients with submandibular sialolithiasis undergoing sialendoscopy versus those undergoing transoral incisional sialithotomy. STUDY DESIGN: Longitudinal, prospective study of patient undergoing gland-preserving therapy for submandibular sialolithiasis. METHODS: The study was a prospective, nonrandomized trial of 30 patients with submandibular sialolithiasis who received gland-preserving treatment by either sialendoscopy-assisted techniques (Scope group; 14 patients) or transoral sialithotomy with or without dochoplasty (No Scope group; 16 patients). Factors analyzed between the two groups included age, race, gender, size of stone, location of stone, gland(s) involved, surgical method, and modified salivary Oral Health Impact Profile (sOHIP) scores before and after therapy. RESULTS: There were no significant differences between the Scope and No Scope groups regarding age, race, or gender. There was a significant difference in stone size between the groups, with the No Scope group having larger stones on average. Both treatments led to statistically significant symptomatic improvement in sOHIP scores. There was no statistically significant difference in salivary quality of life improvement between the Scope and No Scope groups (P = .33). CONCLUSIONS: Sialendoscopy is an important diagnostic and therapeutic tool in the management of salivary disorders, but is not associated with improved outcomes in gland-preserving treatments for routine submandibular sialolithiasis. Transoral stone removal alone may have equivalent symptomatic outcomes in the management of select sialoliths. LEVEL OF EVIDENCE: 3 Laryngoscope, 132:754-760, 2022.
Assuntos
Cálculos das Glândulas Salivares , Endoscópios , Endoscopia/métodos , Humanos , Estudos Prospectivos , Qualidade de Vida , Estudos Retrospectivos , Cálculos das Glândulas Salivares/diagnóstico , Cálculos das Glândulas Salivares/cirurgia , Resultado do TratamentoRESUMO
OBJECTIVE: The purpose of this study is to examine differences in therapy usage and outcomes of therapy between responder (R) and nonresponder (NR) groups in an international, multicenter prospective registry of patients undergoing hypoglossal nerve stimulation for obstructive sleep apnea (OSA). STUDY DESIGN: Database analysis (level III). SETTING: International, multicenter registry. METHODS: The studied registry prospectively collects data pre- and postimplantation, including sleep parameters, Epworth score, patient experience, and safety questions, over the course of 12 months. Patients are defined as a "responder" based on Sher criteria, which require a final apnea-hypopnea index (AHI) of ≤20 and a final AHI reduction of >50% at their 12-month follow-up. RESULTS: Overall, there were 497 (69%) R and 220 (31%) NR. Most patients in both groups experienced improvement in quality of life following implantation (96% of R; 77% of NR) with reductions in oxygen desaturation index and Epworth score. At final follow-up, the R group demonstrated significantly better adherence to recommended therapy (>4 hours/night) (P = .001), average hours of nightly use (P = .001), final Epworth scores (P = .001), and degree of subjective improvement (P < .001). CONCLUSION: Patients classified as NR to upper airway stimulation continue to use therapy with improvement in percent time of sleep with O2 <90%, reduction in daytime sleepiness, and improvement in quality of life. Therefore, ongoing usage of the device should be encouraged in NR patients who note improvement while integrating additional strategies to lower the long-term effects of OSA.
Assuntos
Terapia por Estimulação Elétrica , Apneia Obstrutiva do Sono , Humanos , Nervo Hipoglosso , Qualidade de Vida , Apneia Obstrutiva do Sono/terapia , Resultado do TratamentoRESUMO
INTRODUCTION: Nutritional status can affect surgical patients in terms of stress response, healing time, and outcomes. Several abnormalities are known to have a high prevalence in the general population such as vitamin D deficiency (VDD) and subclinical hypothyroidism. We hypothesized that there will be elevated rates of nutritional deficiencies in preoperative patients which may adversely affect postoperative outcomes following pediatric otolaryngology surgery. METHODS: IRB approval was obtained for a cross-sectional cohort study. Consecutive patients underwent nutritional evaluation when being scheduled for surgery including TSH, albumin and vitamin D. Demographic data, supplementation, and early complication rates were collected. RESULTS: 125 patients were included in the final cohort with adequate demographic distribution. Based on anthropometric data, 12% of our cohort was found to be undernourished, and 40% of our cohort with elevated BMI. However, there was no relationship found between Z-scores and complications. VDD was noted in 83/125 (66.4%) patients. Our cohort had increased rates of VDD in patients with elevated BMI and African American ethnicity. Thyroid hormone abnormalities were present in 12 patients. Mean serum albumin level was 4.29 in our cohort all within normal range. We did find increased risk of postoperative complications in patients with previously diagnosed comorbidities. (p=0.006). CONCLUSION: There is no current recommendation or consensus for nutritional assessment in preoperative pediatric patients. Our study did not show statistically significant correlation with z-scores, low vitamin D levels with supplementation, albumin, or TSH to postoperative complications. However, our patient cohort had higher than average rates of VDD compared to the many studies of the general pediatric population and significant negative correlation between vitamin D levels and z-scores. By early preoperative identification of VDD and supplementation with calciferol, we found no significant difference in complication rates in patients based on their initial vitamin D status. We suggest screening preoperative patients using z-score calculations and vitamin D levels based on individual patient risk factors including atrisk patient populations such as African American children, and obese children.
Assuntos
Otolaringologia , Obesidade Infantil , Deficiência de Vitamina D , Criança , Estudos Transversais , Humanos , Estado Nutricional , Vitamina D , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/epidemiologiaRESUMO
BACKGROUND: Surgery with adjuvant radiotherapy is the accepted standard for treatment of advanced oral cavity squamous cell carcinoma (OCSCC); however, alternative evidence suggests that definitive (chemo)radiotherapy may have similar outcomes. METHODS: Systematic review was performed to assess the therapeutic value of radiotherapy or chemoradiotherapy as a primary modality for treating OCSCC. Meta-analysis of outcomes was performed between articles comparing radiotherapy and primary surgical treatment. RESULTS: Meta-analysis showed less favorable results of radiotherapy compared to surgery: overall survival at 3-years (odds ratio [OR] = 0.51; 95% confidence interval [CI] = 0.34-0.77) and 5-years (OR = 0.42; 95% CI = 0.29-0.60); disease-specific survival at 3-years (OR = 0.55; 95% CI = 0.32-0.96) and 5-years (OR = 0.55; 95% CI = 0.32-0.96). Odds of feeding tube dependency were higher in primary radiotherapy group (OR = 2.67; 95% CI = 1.27-5.64). CONCLUSIONS: Results of this study support the current perspective favoring primary surgical treatment for OCSCC in the absence of surgical contraindications.
Assuntos
Carcinoma de Células Escamosas , Neoplasias de Cabeça e Pescoço , Neoplasias Bucais , Carcinoma de Células Escamosas/tratamento farmacológico , Quimiorradioterapia , Humanos , Neoplasias Bucais/tratamento farmacológico , Neoplasias Bucais/radioterapia , Carcinoma de Células Escamosas de Cabeça e PescoçoRESUMO
OBJECTIVE: Standards for treatment of laryngeal clefts remain poorly defined. There are no large case series that report the efficacy of injection laryngoplasty (IL) in the treatment of pediatric Type 1 laryngeal clefts (LC-1). The objective of this study is to measure the effect of IL in young children with LC-1. METHODS: A retrospective case series of 130 patients was completed over 3 years at a at a single institution included patients aged 1 month to 8 years, diagnosed with aspiration and penetration issues during swallowing based on a Videofluoroscopic Swallow Study (VFSS). Patients underwent surgical evaluation and intervention using carboxymethylcellulose gel injection. Collected data points included age in months at time of first injection, gender, race, pre- and post-operation VFSS scores, number of injections, co-morbidities and post-operative complications. VFSS scores were evaluated pre- and post-operatively to assess efficacy of intervention. A secondary outcome was efficacy in patients with aspiration compared to those with penetration alone. RESULTS: This study included 77 male and 53 female patients. Sixty-two patients (48%) demonstrated a significant post-operative improvement in their swallowing function (P < .05). There were no statistical differences in age, number of injections, or the volume of the first injection. Patients that showed a post-operative improvement in swallowing function were on average 5 months older and had more severe aspiration and penetration compared to those who did not demonstrate a post-operative benefit and underwent less injections. The volume of injection did not appear to play a role in the success rate. CONCLUSION: Injecting the inter-arytenoid area in patients with LC-1 appears to confer some benefit to close to half of our patient population. Successful procedures seemed to occur in patients with more severe aspiration and penetration and older age.
Assuntos
Anormalidades Congênitas/cirurgia , Laringoplastia/métodos , Laringe/anormalidades , Criança , Pré-Escolar , Anormalidades Congênitas/classificação , Feminino , Humanos , Lactente , Injeções , Laringe/cirurgia , Masculino , Estudos Retrospectivos , Resultado do TratamentoRESUMO
OBJECTIVES/HYPOTHESIS: Obstructive sleep apnea (OSA) and sickle cell disease (SCD) represent two complex disease processes. Current guidelines recommend that children with SCD receive polysomnography (PSG) after presenting with signs or symptoms of sleep-disordered breathing (SDB). Recent studies suggest a disproportionately elevated prevalence of SDB in the population of children with SCD, and traditional risk factors may not be evident within these patients. Further objective testing might be needed to screen all pediatric patients with SCD, even in the absence of overt signs or symptoms of OSA to prevent complications of both conditions. STUDY DESIGN: Prospective cohort study. METHODS: Institutional review board approval was obtained. An eight-question OSA risk assessment screening questionnaire was presented prospectively to 100 consecutive patients with SCD in the pediatric hematology clinic regardless of complaints of SDB. RESULTS: Out of 100 patients, 51 were female. The average age, body mass index (BMI), BMI percentile, and I'M SLEEPY score of the entire cohort were 3.97 years, 15.97%, 55.4%, and 1.63%, respectively. Nineteen patients had a positive sleep apnea screening score and were referred for PSG. The average age BMI, BMI percentile, and I'M SLEEPY score for those 19 patients were 3.77%, 16.67%, 65%, and 3.95%, respectively. Ten patients completed PSG, with seven diagnosed with OSA. CONCLUSIONS: This pilot study demonstrates a higher incidence of SDB and OSA in children with SCD relative to the general pediatric population. Although more PSG reports and further testing is needed to determine whether the results hold, preliminary data indicate that children with SCD should at least undergo OSA screening in the office regardless of overt symptoms. LEVEL OF EVIDENCE: 3 Laryngoscope, 131:E1022-E1028, 2021.
Assuntos
Anemia Falciforme/complicações , Programas de Rastreamento/estatística & dados numéricos , Guias de Prática Clínica como Assunto , Apneia Obstrutiva do Sono/epidemiologia , Índice de Massa Corporal , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Masculino , Programas de Rastreamento/normas , Projetos Piloto , Polissonografia/normas , Polissonografia/estatística & dados numéricos , Prevalência , Estudos Prospectivos , Fatores de Risco , Apneia Obstrutiva do Sono/etiologia , Inquéritos e Questionários/estatística & dados numéricosRESUMO
OBJECTIVES: Physicians have high rates of burnout with an Otolaryngology burnout rate of 42%. The most studied burnout correlation is increased work hours. More recently, mindfulness training programs have been shown to decrease burnout and increase self-compassion. Regarding burnout studies specific to Otolaryngology residents, there have been few in the past decade. This study explores correlations between burnout and procedure involvement, non-clinical responsibilities and mindfulness practices along with gathering updated work hours data. METHODS: A single survey question was shown to be a reliable substitute for Maslach Burnout Inventory in assessing burnout. A survey was sent to all US Otolaryngology residents to investigate the correlation of burnout to post-graduate year, work hours, procedure involvement, non-clinical responsibilities, and mindfulness practices. Residents were asked to answer questions regarding their previous year of training. RESULTS: Overall burnout was 50%. PGY-1 and PGY-5 were completed with a low burnout rate compared to other years. Increased work hours were confirmed to increase burnout. Increased involvement in procedures, decreased exercise, and increased time completing paperwork correlated with increased burnout. No other factors including mindfulness correlated with increased or decreased burnout. However, only 20% who practiced mindfulness training had this training offered by their department or university. CONCLUSION: Annals of Otology, Rhinology & Laryngology A 50% burnout rate is a concerning rate. Increased work hours and PGY-2 through PGY-4 correlated with increased burnout. Accessibility to mindfulness training was low. As mindfulness training is a proven activity to decrease burnout, more departments could benefit from providing these experiences to their residents.
Assuntos
Esgotamento Profissional/epidemiologia , Internato e Residência , Atenção Plena , Otolaringologia/educação , Admissão e Escalonamento de Pessoal , Carga de Trabalho , Esgotamento Profissional/psicologia , Humanos , Fatores de RiscoRESUMO
OBJECTIVES: Assess the outcome of Intravenous (IV) dexamethasone in the treatment of pediatric deep neck space infections (DNSI) in combination with IV antibiotics. METHODS: Retrospective chart review of pediatric patients admitted for a DNSI from March 2014 to June 2016. Patient characteristics including demographics, abscess type, antibiotic, dexamethasone, surgery, culture, and length of stay (LOS) were obtained. Patients treated with antibiotics alone versus antibiotics and dexamethasone were compared. Primary outcome measures were rate of surgical drainage and LOS. RESULTS: Overall 153 patients with DNSI were identified, including 62 lateral neck, 18 parapharyngeal, 40 peritonsillar, 32 retropharyngeal, and 1 submandibular. All patients received antibiotics. Dexamethasone was used in 35% of patients. The rate of surgical drainage in the dexamethasone and non-dexamethasone group was 36% and 53% respectively (P = .043). LOS was shorter for the dexamethasone group (2.9 days) compared to the non-dexamethasone group (3.8 days) but was non-significant, P-value-.09. The most common microorganisms cultured were MRSA (25), MSSA (11), and Streptococcus pyogenes (10). CONCLUSION: Dexamethasone use was associated with a decreased rate of surgical drainage in pediatric patients with DNSI. Further prospective study is needed to determine the role of dexamethasone in treatment.
Assuntos
Abscesso , Dexametasona/administração & dosagem , Drenagem , Staphylococcus aureus Resistente à Meticilina/isolamento & purificação , Pescoço , Infecções Estafilocócicas/tratamento farmacológico , Infecções Estreptocócicas/tratamento farmacológico , Streptococcus pyogenes/isolamento & purificação , Abscesso/tratamento farmacológico , Abscesso/microbiologia , Abscesso/cirurgia , Administração Intravenosa , Antibacterianos/uso terapêutico , Anti-Inflamatórios/administração & dosagem , Criança , Pré-Escolar , Drenagem/métodos , Drenagem/estatística & dados numéricos , Feminino , Humanos , Tempo de Internação/estatística & dados numéricos , Masculino , Esvaziamento Cervical/métodos , Avaliação de Processos e Resultados em Cuidados de Saúde , Estudos Retrospectivos , Infecções Estafilocócicas/diagnóstico , Infecções Estafilocócicas/cirurgia , Infecções Estreptocócicas/diagnóstico , Infecções Estreptocócicas/cirurgia , Estados UnidosRESUMO
OBJECTIVES: To investigate national and regional variations in pediatric tracheostomy rates, epidemiology, and outcomes from 2000 to 2012. STUDY DESIGN: Retrospective cohort analysis. SETTING: Previous research with the 1997 edition of the Kids' Inpatient Database (KID), a national database of pediatric hospital discharge data, demonstrated that rates and outcomes of pediatric tracheostomy vary among US geographic regions. The KID has since been released an additional 5 times, increasing in size with successive editions. SUBJECTS AND METHODS: Patients ≤18 years old with procedure codes for permanent or temporary tracheostomy from 2000 to 2012 were included. Primary outcome was a weighted population-based rate of tracheostomy stratified by year. Secondary analysis included epidemiologic characteristics and outcomes stratified by year and geographic region. RESULTS: A weighted total of 24,354 cases was analyzed. Population-based tracheostomy rates decreased from 6.8 ± 0.2 (mean ± SD) tracheostomies per 100,000 child-years in 2000 to 6.0 ± 0.2 in 2012. Minorities increased from 53.3% in 2000 to 56.4% in 2012. Patients experienced increased procedures, diagnoses, length of stay, and hospital charges with time. From 2000 to 2012, rates and outcomes varied by US geographic region. Mortality during hospitalization (8%) did not vary by year, patient age, region, or sex. CONCLUSIONS: Pediatric tracheostomy is associated with variation in incidence, epidemiology, and hospitalization outcomes in the United States from 2000 to 2012. While rates of pediatric tracheostomy decreased, patients became increasingly medically complicated and ethnically diverse with outcomes varying according to geographic region.
Assuntos
Preços Hospitalares/estatística & dados numéricos , Hospitalização/estatística & dados numéricos , Tempo de Internação/economia , Traqueostomia/estatística & dados numéricos , Fatores Etários , Criança , Pré-Escolar , Estudos de Coortes , Bases de Dados Factuais , Feminino , Humanos , Incidência , Masculino , Razão de Chances , Pediatria , Prognóstico , Estudos Retrospectivos , Medição de Risco , Fatores Sexuais , Traqueostomia/métodos , Estados UnidosRESUMO
INTRODUCTION: Patients undergoing adenotonsillectomy (T&A) for severe obstructive sleep apnea (OSA) are usually admitted for observation, and many surgeons use the intensive care unit (ICU) for observation due to the risk of postsurgical airway obstruction. Given the limited resources of the pediatric ICU (PICU), there is a push to better define the patients who require postoperative monitoring in the PICU for monitoring severe OSA. METHODS: Forty-five patients were evaluated. Patients who had cardiac or craniofacial comorbidities were excluded. Patients undergoing T&A for severe OSA were monitored in the postanesthesia care unit (PACU) postoperatively. If patients required supplemental oxygen or developed hypoxia while in the PACU within the 3-hour monitoring period, they were admitted to the PICU. RESULTS: Overall, 16 of 45 patients were admitted to the ICU for monitoring. Patients with an Apnea-Hypopnea Index (AHI) >50 or with an oxygen nadir <80% were significantly more likely to be admitted to the PICU. The mean AHI of patients admitted to the PICU was 40.5, and the mean oxygen nadir was 69.9%. Patients younger than 2 years were significantly more likely to be admitted to the PICU. CONCLUSION: Based on the data presented here and academy recommendations, not all patients with severe OSA require ICU monitoring.
Assuntos
Adenoidectomia/efeitos adversos , Cuidados Críticos , Cuidados Pós-Operatórios , Complicações Pós-Operatórias/etiologia , Apneia Obstrutiva do Sono/cirurgia , Tonsilectomia/efeitos adversos , Adolescente , Criança , Pré-Escolar , Feminino , Hospitalização , Humanos , Lactente , Unidades de Terapia Intensiva Pediátrica , Masculino , Polissonografia , Complicações Pós-Operatórias/terapia , Fatores de Risco , Resultado do TratamentoRESUMO
Autism spectrum disorder (ASD) is a neuro developmental disorder, reported to be on a rise in the past two decades. Thyroid hormone-T3 plays an important role in early embryonic and central nervous system development. T3 mediates its function by binding to thyroid hormone receptors, TRα and TRß. Alterations in T3 levels and thyroid receptor mutations have been earlier implicated in neuropsychiatric disorders and have been linked to environmental toxins. Limited reports from earlier studies have shown the effectiveness of T3 treatment with promising results in children with ASD and that the thyroid hormone levels in these children was also normal. This necessitates the need to explore the genetic variations in the components of the thyroid hormone pathway in ASD children. To achieve this objective, we performed genetic analysis of ligand binding domain of THRA and THRB receptor genes in 30 ASD subjects and in age matched controls from India. Our study for the first time reports novel single nucleotide polymorphisms in the THRA and THRB receptor genes of ASD individuals. Autism Res 2017, 10: 1919-1928. ©2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Thyroid hormone (T3) and thyroid receptors (TRα and TRß) are the major components of the thyroid hormone pathway. The link between thyroid pathway and neuronal development is proven in clinical medicine. Since the thyroid hormone levels in Autistic children are normal, variations in their receptors needs to be explored. To achieve this objective, changes in THRA and THRB receptor genes was studied in 30 ASD and normal children from India. The impact of some of these mutations on receptor function was also studied.
Assuntos
Transtorno do Espectro Autista/genética , Genes erbA/genética , Receptores dos Hormônios Tireóideos/genética , Transtorno do Espectro Autista/sangue , Criança , Feminino , Humanos , Índia , Masculino , Mutação/genética , Polimorfismo de Nucleotídeo Único/genética , Receptores dos Hormônios Tireóideos/sangueRESUMO
Autism Spectrum Disorder (ASD) has both genetic and environmental factors in its etiology. The risk for many disorders is increased by consanguinity, but it is not known whether it increases the risk for ASD. Our study from large population in India concludes that consanguinity increases the risk for ASD with an odds ratio of 3.22.
Assuntos
Transtorno do Espectro Autista/epidemiologia , Consanguinidade , Causalidade , Criança , Pré-Escolar , Feminino , Humanos , Índia/epidemiologia , Masculino , Razão de Chances , Psicometria , Fatores de Risco , Inquéritos e QuestionáriosRESUMO
Globalization and women empowerment have led to stressful life among Indian women. This stress impairs women's hormonal makeup and menstrual cycle, leading to infertility. National Family Health Survey-3 (NFHS-3) reports a decline in fertility status in India, indicating a rise in various infertility treatments involving hormonal interventions. No studies are available from India on the risk association link between maternal hormonal treatments and ASD. Hence, this study explores the association of maternal hormonal interventions with risk for ASD. Parents of 942 children (471 ASD and 471 controls) across 9 cities in India participated in the questionnaire-based study. The questionnaire was pilot tested and validated for its content and reliability as a psychometric instrument. Data collection was done at 70 centres through direct interaction with parents and with the help of trained staff. Statistical analysis of data was carried out using SAS 9.1.3. Out of the 471 ASD cases analysed, 58 mothers had undergone hormonal interventions (12.3 percent) while there were only 22 mothers among controls who underwent hormonal interventions (4.6 percent). According to logistic regression analysis maternal hormonal intervention (OR=2.24) was a significant risk factor for ASD.
Assuntos
Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Fármacos para a Fertilidade Feminina/efeitos adversos , Infertilidade Feminina/tratamento farmacológico , Adulto , Estudos de Casos e Controles , Criança , Transtornos Globais do Desenvolvimento Infantil/etiologia , Pré-Escolar , Clomifeno/efeitos adversos , Clomifeno/uso terapêutico , Estrogênios/efeitos adversos , Estrogênios/uso terapêutico , Feminino , Fármacos para a Fertilidade Feminina/uso terapêutico , Hormônio Liberador de Gonadotropina/efeitos adversos , Hormônio Liberador de Gonadotropina/uso terapêutico , Gonadotropinas/efeitos adversos , Gonadotropinas/uso terapêutico , Humanos , Índia/epidemiologia , Masculino , Progesterona/efeitos adversos , Progesterona/uso terapêutico , Fatores de Risco , Inquéritos e QuestionáriosRESUMO
Incidence of Autism Spectrum Disorder (ASD) is increasing across the globe and no data is available from India regarding the risk factors of ASD. In this regard a questionnaire based epidemiological assessment was carried out on prenatal, perinatal and neonatal risk factors of ASD across 8 cities in India. A retrospective cohort of 942 children was enrolled for the study. 471 children with ASD, under age of 10, were analyzed for pre-, peri-, and neonatal factors and were compared with the observations from equal number of controls. The quality control of the questionnaire and data collection was done thoroughly and the observations were computed statistically. A total of 25 factors were evaluated by unadjusted and adjusted analysis in this study. Among the prenatal factors considered, advanced maternal age, fetal distress and gestational respiratory infections were found to be associated with ASD and had an odds ratio of 1.8. Evaluation of perinatal and neonatal risk factors showed labor complications, pre-term birth, neonatal jaundice, delayed birth cry and birth asphyxia to be associated with ASD with an odds ratio greater than 1.5. This important study, first of its kind in Indian population gives a firsthand account of the relation of pre-, peri- and neonatal risk factors on ASD from an ethnically and socially diverse country like India, the impact of which was unknown earlier. This advocates additional focused investigations on physiological and genetic changes contributed by these risk factor inducing environments.