Search results for: steroid-sensitive idiopathic nephrotic syndrome

Authors: Emmanuel Ademola Anigilaje, Ibraheem Ishola

Abstract:

Background: Childhood steroid-sensitive idiopathic nephrotic syndrome (SSINS) is plagued with relapses that contribute to its morbidity and the cost of treatment. Materials and Methods: This is a retrospective review of relapses among children with SSINS at the University of Abuja Teaching Hospital from January 2016 to July 2020. Triggers related to relapse incidents were noted. Chi-square test was deployed for predictors (factors at the first clinical presentations that associate with subsequent relapses) of relapses. Predictors with p-values of less than 0.05 were considered significant and 95% confidence intervals (CI) and odd ratio (OR) were described. Results: Sixty SSINS comprising 52 males (86.7%), aged 23 months to 18 years, with a mean age of 7.04±4.16 years were studied. Thirty-eight (63.3%) subjects had 126 relapses including infrequent relapses in 30 (78.9%) and frequent relapses in 8 (21.1%). The commonest triggers were acute upper respiratory tract infections (68, 53.9%) and urinary tract infections (UTIs) in 25 (19.8%) relapses. In 4 (3.2%) relapses, no trigger was identified. The time-to-first relapse ranged 14 days to 365 days with a median time of 60 days. The significant predictors were hypertension (OR=3.4, 95% CI; 1.04-11.09, p=0.038), UTIs (OR=9.9, 95% CI; 1.16-80.71, p= 0.014), malaria fever (OR=8.0, 95% CI; 2.45-26.38, p˂0.001), micro-haematuria (OR=4.9, 95% CI; 11.58-15.16, p=0.004), elevated serum creatinine (OR=12.3, 95%CI; 1.48-101.20, p=0.005) and hypercholesterolaemia (OR=4.1, 95%CI; 1.35-12.63, p=0.011). Conclusion: While the pathogenesis of relapses remains unknown, it is prudent to consider relapse-specific preventive strategies against triggers and predictors of relapses in our setting.

Keywords: Patterns, triggers, predictors, steroid-sensitive idiopathic nephrotic syndrome, relapses, Nigeria

Procedia PDF Downloads 121

Authors: S. H. Jang

Abstract:

Posterior reversible encephalopathy syndrome (PRES) is characterized by acute neurologic symptoms (visual loss, headache, altered mentality and seizures) and by typical imaging findings (bilateral subcortical and cortical edema with predominatly posterior distribution). Nephrotic syndrome is a syndrome comprising signs of proteinuria, hypoalbuminemia, and edema. It is well known that hypertension predispose patient with nephrotic syndrome to PRES. A 45-year old male was referred for suddenly developed vertigo, disequilibrium. He had previous history of nephrotic syndrome. His medical history included diabetes controlled with medication. He was hospitalized because of generalized edema a few days ago. His vital signs were stable. On neurologic examination, his mental state was alert. Horizontal nystagmus to right side on return to primary position was observed. He showed good grade motor weakness and ataxia in right upper and lower limbs without other sensory abnormality. Brain MRI showed increased signal intensity in FLAIR image, decreased signal intensity in T1 image and focal enhanced lesion in T1 contrast image at whole midbrain, pons and cerebellar peduncle symmetrically, which was compatible with vasogenic edema. Laboratory findings showed severe proteinuria and hypoalbuminemia. He was given intravenous dexamethasone and diuretics to reduce vasogenic edema and raise the intra-vascular osmotic pressure. Nystagmus, motor weakness and limb ataxia improved gradually over 2 weeks; He recovered without any neurologic symptom and sign. Follow-up MRI showed decreased vasogenic edema fairly. We report a case of brain stem PRES in normotensive, nephrotic syndrome patient.

Keywords: posterior reversible encephalopathy syndrome, MRI, nephrotic syndrome, vasogenic brain edema

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Authors: Jyoti Agrawal

Abstract:

Introduction: Renal diseases in children and young adult can be difficult to diagnose early as it may present only with few symptoms, tends to have different course than adult and respond variously to different treatment. The pattern of renal disease in children is different from developing countries as compared to developed countries. Methods: This study was a hospital based prospective observational study carried from March, 2014 to February 2015 at BP Koirala institute of health sciences. Patients with renal disease, both inpatient and outpatient from birth to 14 years of age were enrolled in the study. The diagnosis of renal disease was be made on clinical and laboratory criteria. Results: Total of 120 patients were enrolled in our study which contributed to 3.74% % of total admission. The commonest feature of presentation was edema (75%), followed by fever (65%), hypertension (60%), decreased urine output (45%) and hematuria (25%). Most common diagnosis was acute glomerulonephritis (40%) followed by Nephrotic syndrome (25%) and urinary tract infection (25%). Renal biopsy was done for 10% of cases and most of them were steroid dependent nephrotic syndrome. 5% of our cases expired because of multiorgan dysfunction syndrome, sepsis and acute kidney injury. Conclusion: Renal disease contributes to a large part of hospital pediatric admission as well as mortality and morbidity to the children.

Keywords: glomerulonephritis, nephrotic syndrome, renal disease, urinary tract infection

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Authors: Jennifer M. Glennon, Hana D'Souza, Luke Mason, Annette Karmiloff-Smith, Michael S. C. Thomas

Abstract:

Genetic syndrome groups that feature high rates of autism comorbidity, like Down syndrome (DS) and fragile X syndrome (FXS), have been presented as useful models for understanding risk and protective factors involved in the emergence of autistic traits. Yet despite reaching clinical thresholds, these ‘syndromic’ forms of autism appear to differ in important ways from the idiopathic or ‘non-syndromic’ autism phenotype. To uncover the true nature of these comorbidities, it is necessary to extend definitions of autism to include the cognitive characteristics of the disorder and to then apply this broadened conceptualisation to the study of syndromic autism profiles. The current study employs a variety of well-established eye-tracking paradigms to assess visual attentional performance in children with DS and FXS who reach thresholds for autism on the Social Communication Questionnaire. It investigates whether autism profiles in these children are accompanied by visual orienting difficulties (‘sticky attention’), decreased social attention, and enhanced visual search performance, all of which are characteristic of the idiopathic autism phenotype. Data is collected from children with DS and FXS aged between 6 and 10 years, in addition to two control groups matched on age and intellectual ability (i.e., children with idiopathic autism and neurotypical controls). Cross-sectional developmental trajectory analyses are conducted to enable visuo-attentional profile comparisons. Significant differences in the visuo-attentional processes underpinning autism presentations in children with FXS and DS are hypothesised, supporting notions of syndrome specificity. The study provides insight into the complex heterogeneity associated with syndromic autism presentations and autism per se, with clinical implications for the utility of autism intervention programmes in DS and FXS populations.

Keywords: autism, down syndrome, fragile X syndrome, eye tracking

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Authors: Joao Fialho

Abstract:

The mathematical modelling of idiopathic scoliosis has been studied throughout the years. The models presented on those papers are based on the orthotic stabilization of the idiopathic scoliosis, which are based on a transversal force being applied to the human spine on a continuous form. When considering the ATT (Antalgic-Trak Technology) device, the existent models cannot be used, as the type of forces applied are no longer transversal nor applied in a continuous manner. In this device, vertical traction is applied. In this study we propose to model the idiopathic scoliosis, using the ATT (Antalgic-Trak Technology) device, and with the parameters obtained from the mathematical modeling, set up a case-by-case individualized therapy plan, for each patient.

Keywords: idiopathic scoliosis, mathematical modelling, human spine, Antalgic-Trak technology

Procedia PDF Downloads 240

Authors: Camelia Porey, Binaya Kumar Jaiswal

Abstract:

BACKGROUND: Antiphospholipid antibody (APLA) syndrome is an autoimmune disorder predisposing to thrombotic complications affecting CNS either by arterial vasooclusion or venous thrombosis. Cerebral venous sinus thrombosis (CVST) secondarily causes raised intracranial pressure (ICP). However, intracranial hypertension without evidence of CVST is a rare entity. Here we present two cases of elevated ICP with absence of identifiable CVST. CASE SUMMARY: Case 1, 28-year female had a 2 months history of holocranial headache followed by bilateral painless vision loss reaching lack of light perception over 20 days. CSF opening pressure was elevated. Fundoscopy showed bilateral grade 4 papilledema. MRI revealed a partially empty sella with bilateral optic nerve tortuosity. Idiopathic intracranial hypertension (IIH) was diagnosed. With acetazolamide, there was complete resolution of the clinical and radiological abnormalities. 5 months later she presented with acute onset right-sided hemiparesis. MRI was suggestive of acute left MCA infarct.MR venogram was normal. APLA came positive with high titres of Anticardiolipin and Beta 2 glycoprotein both IgG and IgM. Case 2, 23-year female, presented with headache and diplopia of 2 months duration. CSF pressure was elevated and Grade 3 papilledema was seen. MRI showed bilateral optic nerve hyperintensities with nerve head protrusion with normal MRV. APLA profile showed elevated beta 2 glycoprotein IgG and IgA. CONCLUSION: This is an important non thrombotic complication of APLA syndrome and requires further large-scale study for insight into the pathogenesis and early recognition to avoid future complications.

Keywords: APLA syndrome, idiopathic intracranial hypertension, MR venogram, papilledema

Procedia PDF Downloads 144

Authors: Marina Wagdy Nageeb Eskander

Abstract:

A descriptive statistical analysis of the data showed that the most important factor evoking negative attitudes among teachers is student behavior. have been presented as useful models for understanding the risk factors and protective factors associated with the emergence of autistic traits. Although these "syndrome" forms of autism reach clinical thresholds, they appear to be distinctly different from the idiopathic or "non-syndrome" autism phenotype. Most teachers reported that kindergartens did not prepare them for the educational needs of children with autism, particularly in relation to non-verbal skills. The study is important and points the way for improving teacher inclusion education in Thailand. Inclusive education for students with autism is still in its infancy in Thailand. Although the number of autistic children in schools has increased significantly since the Thai government introduced the Education Regulations for Persons with Disabilities Act in 2008, there is a general lack of services for autistic students and their families. This quantitative study used the Teaching Skills and Readiness Scale for Students with Autism (APTSAS) to test the attitudes and readiness of 110 elementary school teachers when teaching students with autism in general education classrooms. To uncover the true nature of these co morbidities, it is necessary to expand the definition of autism to include the cognitive features of the disorder, and then apply this expanded conceptualization to examine patterns of autistic syndromes. This study used various established eye-tracking paradigms to assess the visual and attention performance of children with DS and FXS who meet the autism thresholds defined in the Social Communication Questionnaire. To study whether the autistic profiles of these children are associated with visual orientation difficulties ("sticky attention"), decreased social attention, and increased visual search performance, all of which are hallmarks of the idiopathic autistic child phenotype. Data will be collected from children with DS and FXS, aged 6 to 10 years, and two control groups matched for age and intellectual ability (i.e., children with idiopathic autism).In order to enable a comparison of visual attention profiles, cross-sectional analyzes of developmental trajectories are carried out. Significant differences in the visual-attentive processes underlying the presentation of autism in children with FXS and DS have been suggested, supporting the concept of syndrome specificity. The study provides insights into the complex heterogeneity associated with autism syndrome symptoms and autism itself, with clinical implications for the utility of autism intervention programs in DS and FXS populations.

Keywords: attitude, autism, teachers, sports activities, movement skills, motor skills

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Authors: Eva Maged Hosni Sadek

Abstract:

A descriptive statistical analysis of the data showed that the most important factor evoking negative attitudes among teachers is student behavior. have been presented as useful models for understanding the risk factors and protective factors associated with the emergence of autistic traits. Although these "syndrome" forms of autism reach clinical thresholds, they appear to be distinctly different from the idiopathic or "non-syndrome" autism phenotype. Most teachers reported that kindergartens did not prepare them for the educational needs of children with autism, particularly in relation to non-verbal skills. The study is important and points the way for improving teacher inclusion education in Thailand. Inclusive education for students with autism is still in its infancy in Thailand. Although the number of autistic children in schools has increased significantly since the Thai government introduced the Education Regulations for Persons with Disabilities Act in 2008, there is a general lack of services for autistic students and their families. This quantitative study used the Teaching Skills and Readiness Scale for Students with Autism (APTSAS) to test the attitudes and readiness of 110 elementary school teachers when teaching students with autism in general education classrooms. To uncover the true nature of these co morbidities, it is necessary to expand the definition of autism to include the cognitive features of the disorder, and then apply this expanded conceptualization to examine patterns of autistic syndromes. This study used various established eye-tracking paradigms to assess the visual and attention performance of children with DS and FXS who meet the autism thresholds defined in the Social Communication Questionnaire. To study whether the autistic profiles of these children are associated with visual orientation difficulties ("sticky attention"), decreased social attention, and increased visual search performance, all of which are hallmarks of the idiopathic autistic child phenotype. Data will be collected from children with DS and FXS, aged 6 to 10 years, and two control groups matched for age and intellectual ability (i.e., children with idiopathic autism).In order to enable a comparison of visual attention profiles, cross-sectional analyzes of developmental trajectories are carried out. Significant differences in the visual-attentive processes underlying the presentation of autism in children with FXS and DS have been suggested, supporting the concept of syndrome specificity. The study provides insights into the complex heterogeneity associated with autism syndrome symptoms and autism itself, with clinical implications for the utility of autism intervention programs in DS and FXS populations.

Keywords: attitude, autism, teachers, sports activities, movement skills, motor skills

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Authors: Rania Melad Kamel Hakim

Abstract:

A descriptive statistical analysis of the data showed that the most important factor evoking negative attitudes among teachers is student behavior. These have been presented as useful models for understanding the risk factors and protective factors associated with the emergence of autistic traits. Although these ‘syndrome’ forms of autism reach clinical thresholds, they appear to be distinctly different from the idiopathic or ‘non-syndrome’ autism phenotype. Most teachers reported that kindergartens did not prepare them for the educational needs of children with autism, particularly in relation to non-verbal skills. The study is important and points the way to improving teacher inclusion education in Thailand. Inclusive education for students with autism is still in its infancy in Thailand. Although the number of autistic children in schools has increased significantly since the Thai government introduced the Education Regulations for Persons with Disabilities Act in 2008, there is a general lack of services for autistic students and their families. This quantitative study used the Teaching Skills and Readiness Scale for Students with Autism (APTSAS) to test the attitudes and readiness of 110 elementary school teachers when teaching students with autism in general education classrooms. To uncover the true nature of these co-morbidities, it is necessary to expand the definition of autism to include the cognitive features of the disorder and then apply this expanded conceptualization to examine patterns of autistic syndromes. This study used various established eye-tracking paradigms to assess the visual and attention performance of children with DS and FXS who meet the autism thresholds defined in the Social Communication Questionnaire. To study whether the autistic profiles of these children are associated with visual orientation difficulties (‘sticky attention’), decreased social attention, and increased visual search performance, all of which are hallmarks of the idiopathic autistic child phenotype. Data will be collected from children with DS and FXS, aged 6 to 10 years, and two control groups matched for age and intellectual ability (i.e., children with idiopathic autism).In order to enable a comparison of visual attention profiles, cross-sectional analyzes of developmental trajectories are carried out. Significant differences in the visual-attentive processes underlying the presentation of autism in children with FXS and DS have been suggested, supporting the concept of syndrome specificity. The study provides insights into the complex heterogeneity associated with autism syndrome symptoms and autism itself, with clinical implications for the utility of autism intervention programs in DS and FXS populations.

Keywords: attitude, autism, teachers, sports activities, movement skills, motor skills

Procedia PDF Downloads 25

Authors: Sara Asham Mahrous Kamel

Abstract:

A descriptive statistical analysis of the data showed that the most important factor evoking negative attitudes among teachers is student behavior. have been presented as useful models for understanding the risk factors and protective factors associated with the emergence of autistic traits. Although these "syndrome" forms of autism reach clinical thresholds, they appear to be distinctly different from the idiopathic or "non-syndrome" autism phenotype. Most teachers reported that kindergartens did not prepare them for the educational needs of children with autism, particularly in relation to non-verbal skills. The study is important and points the way for improving teacher inclusion education in Thailand. Inclusive education for students with autism is still in its infancy in Thailand. Although the number of autistic children in schools has increased significantly since the Thai government introduced the Education Regulations for Persons with Disabilities Act in 2008, there is a general lack of services for autistic students and their families. This quantitative study used the Teaching Skills and Readiness Scale for Students with Autism (APTSAS) to test the attitudes and readiness of 110 elementary school teachers when teaching students with autism in general education classrooms. To uncover the true nature of these co morbidities, it is necessary to expand the definition of autism to include the cognitive features of the disorder, and then apply this expanded conceptualization to examine patterns of autistic syndromes. This study used various established eye-tracking paradigms to assess the visual and attention performance of children with DS and FXS who meet the autism thresholds defined in the Social Communication Questionnaire. To study whether the autistic profiles of these children are associated with visual orientation difficulties ("sticky attention"), decreased social attention, and increased visual search performance, all of which are hallmarks of the idiopathic autistic child phenotype. Data will be collected from children with DS and FXS, aged 6 to 10 years, and two control groups matched for age and intellectual ability (i.e., children with idiopathic autism).In order to enable a comparison of visual attention profiles, cross-sectional analyzes of developmental trajectories are carried out. Significant differences in the visual-attentive processes underlying the presentation of autism in children with FXS and DS have been suggested, supporting the concept of syndrome specificity. The study provides insights into the complex heterogeneity associated with autism syndrome symptoms and autism itself, with clinical implications for the utility of autism intervention programs in DS and FXS populations.

Keywords: attitude, autism, teachers, sports activities, movement skills, motor skills

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Authors: Dina Moheb Rashid Michael

Abstract:

A descriptive statistical analysis of the data showed that the most important factor evoking negative attitudes among teachers is student behavior. have been presented as useful models for understanding the risk factors and protective factors associated with the emergence of autistic traits. Although these "syndrome" forms of autism reach clinical thresholds, they appear to be distinctly different from the idiopathic or "non-syndrome" autism phenotype. Most teachers reported that kindergartens did not prepare them for the educational needs of children with autism, particularly in relation to non-verbal skills. The study is important and points the way for improving teacher inclusion education in Thailand. Inclusive education for students with autism is still in its infancy in Thailand. Although the number of autistic children in schools has increased significantly since the Thai government introduced the Education Regulations for Persons with Disabilities Act in 2008, there is a general lack of services for autistic students and their families. This quantitative study used the Teaching Skills and Readiness Scale for Students with Autism (APTSAS) to test the attitudes and readiness of 110 elementary school teachers when teaching students with autism in general education classrooms. To uncover the true nature of these co morbidities, it is necessary to expand the definition of autism to include the cognitive features of the disorder, and then apply this expanded conceptualization to examine patterns of autistic syndromes. This study used various established eye-tracking paradigms to assess the visual and attention performance of children with DS and FXS who meet the autism thresholds defined in the Social Communication Questionnaire. To study whether the autistic profiles of these children are associated with visual orientation difficulties ("sticky attention"), decreased social attention, and increased visual search performance, all of which are hallmarks of the idiopathic autistic child phenotype. Data will be collected from children with DS and FXS, aged 6 to 10 years, and two control groups matched for age and intellectual ability (i.e., children with idiopathic autism).In order to enable a comparison of visual attention profiles, cross-sectional analyzes of developmental trajectories are carried out. Significant differences in the visual-attentive processes underlying the presentation of autism in children with FXS and DS have been suggested, supporting the concept of syndrome specificity. The study provides insights into the complex heterogeneity associated with autism syndrome symptoms and autism itself, with clinical implications for the utility of autism intervention programs in DS and FXS populations.

Keywords: attitude, autism, teachers, sports activities, movement skills, motor skills

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Authors: Mariam Atef Zakaria Faltas

Abstract:

A descriptive statistical analysis of the data showed that the most important factor evoking negative attitudes among teachers is student behavior. have been presented as useful models for understanding the risk factors and protective factors associated with the emergence of autistic traits. Although these "syndrome" forms of autism reach clinical thresholds, they appear to be distinctly different from the idiopathic or "non-syndrome" autism phenotype. Most teachers reported that kindergartens did not prepare them for the educational needs of children with autism, particularly in relation to non-verbal skills. The study is important and points the way for improving teacher inclusion education in Thailand. Inclusive education for students with autism is still in its infancy in Thailand. Although the number of autistic children in schools has increased significantly since the Thai government introduced the Education Regulations for Persons with Disabilities Act in 2008, there is a general lack of services for autistic students and their families. This quantitative study used the Teaching Skills and Readiness Scale for Students with Autism (APTSAS) to test the attitudes and readiness of 110 elementary school teachers when teaching students with autism in general education classrooms. To uncover the true nature of these co morbidities, it is necessary to expand the definition of autism to include the cognitive features of the disorder, and then apply this expanded conceptualization to examine patterns of autistic syndromes. This study used various established eye-tracking paradigms to assess the visual and attention performance of children with DS and FXS who meet the autism thresholds defined in the Social Communication Questionnaire. To study whether the autistic profiles of these children are associated with visual orientation difficulties ("sticky attention"), decreased social attention, and increased visual search performance, all of which are hallmarks of the idiopathic autistic child phenotype. Data will be collected from children with DS and FXS, aged 6 to 10 years, and two control groups matched for age and intellectual ability (i.e., children with idiopathic autism).In order to enable a comparison of visual attention profiles, cross-sectional analyzes of developmental trajectories are carried out. Significant differences in the visual-attentive processes underlying the presentation of autism in children with FXS and DS have been suggested, supporting the concept of syndrome specificity. The study provides insights into the complex heterogeneity associated with autism syndrome symptoms and autism itself, with clinical implications for the utility of autism intervention programs in DS and FXS populations.

Keywords: attitude, autism, teachers, sports activities, movement skills, motor skills

Procedia PDF Downloads 25

Authors: Randa Reda Luke Waheeb

Abstract:

A descriptive statistical analysis of the data showed that the most important factor evoking negative attitudes among teachers is student behavior. have been presented as useful models for understanding the risk factors and protective factors associated with the emergence of autistic traits. Although these "syndrome" forms of autism reach clinical thresholds, they appear to be distinctly different from the idiopathic or "non-syndrome" autism phenotype. Most teachers reported that kindergartens did not prepare them for the educational needs of children with autism, particularly in relation to non-verbal skills. The study is important and points the way for improving teacher inclusion education in Thailand. Inclusive education for students with autism is still in its infancy in Thailand. Although the number of autistic children in schools has increased significantly since the Thai government introduced the Education Regulations for Persons with Disabilities Act in 2008, there is a general lack of services for autistic students and their families. This quantitative study used the Teaching Skills and Readiness Scale for Students with Autism (APTSAS) to test the attitudes and readiness of 110 elementary school teachers when teaching students with autism in general education classrooms. To uncover the true nature of these co morbidities, it is necessary to expand the definition of autism to include the cognitive features of the disorder, and then apply this expanded conceptualization to examine patterns of autistic syndromes. This study used various established eye-tracking paradigms to assess the visual and attention performance of children with DS and FXS who meet the autism thresholds defined in the Social Communication Questionnaire. To study whether the autistic profiles of these children are associated with visual orientation difficulties ("sticky attention"), decreased social attention, and increased visual search performance, all of which are hallmarks of the idiopathic autistic child phenotype. Data will be collected from children with DS and FXS, aged 6 to 10 years, and two control groups matched for age and intellectual ability (i.e., children with idiopathic autism).In order to enable a comparison of visual attention profiles, cross-sectional analyzes of developmental trajectories are carried out. Significant differences in the visual-attentive processes underlying the presentation of autism in children with FXS and DS have been suggested, supporting the concept of syndrome specificity. The study provides insights into the complex heterogeneity associated with autism syndrome symptoms and autism itself, with clinical implications for the utility of autism intervention programs in DS and FXS populations.

Keywords: attitude, autism, teachers, sports activities, movement skills, motor skills

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Authors: Narges Arsanious Kamel Arsanious

Abstract:

A descriptive statistical analysis of the data showed that the most important factor evoking negative attitudes among teachers is student behavior. have been presented as useful models for understanding the risk factors and protective factors associated with the emergence of autistic traits. Although these "syndrome" forms of autism reach clinical thresholds, they appear to be distinctly different from the idiopathic or "non-syndrome" autism phenotype. Most teachers reported that kindergartens did not prepare them for the educational needs of children with autism, particularly in relation to non-verbal skills. The study is important and points the way for improving teacher inclusion education in Thailand. Inclusive education for students with autism is still in its infancy in Thailand. Although the number of autistic children in schools has increased significantly since the Thai government introduced the Education Regulations for Persons with Disabilities Act in 2008, there is a general lack of services for autistic students and their families. This quantitative study used the Teaching Skills and Readiness Scale for Students with Autism (APTSAS) to test the attitudes and readiness of 110 elementary school teachers when teaching students with autism in general education classrooms. To uncover the true nature of these co morbidities, it is necessary to expand the definition of autism to include the cognitive features of the disorder, and then apply this expanded conceptualization to examine patterns of autistic syndromes. This study used various established eye-tracking paradigms to assess the visual and attention performance of children with DS and FXS who meet the autism thresholds defined in the Social Communication Questionnaire. To study whether the autistic profiles of these children are associated with visual orientation difficulties ("sticky attention"), decreased social attention, and increased visual search performance, all of which are hallmarks of the idiopathic autistic child phenotype. Data will be collected from children with DS and FXS, aged 6 to 10 years, and two control groups matched for age and intellectual ability (i.e., children with idiopathic autism).In order to enable a comparison of visual attention profiles, cross-sectional analyzes of developmental trajectories are carried out. Significant differences in the visual-attentive processes underlying the presentation of autism in children with FXS and DS have been suggested, supporting the concept of syndrome specificity. The study provides insights into the complex heterogeneity associated with autism syndrome symptoms and autism itself, with clinical implications for the utility of autism intervention programs in DS and FXS populations.

Keywords: attitude, autism, teachers, sports activities, movement skills, motor skills

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Authors: Irfan Abdulrahman Sheth, Sohil Pothiawala

Abstract:

Dermatomyositis is an idiopathic inflammatory myopathy, traditionally characterized by a progressive, symmetrical proximal muscle weakness and pathognomonic or characteristic cutaneous manifestations. We report a case of a 60-year old Chinese female who was referred from polyclinic for allergic rash over the body after applying hair dye 3 weeks ago. It was associated with puffiness of face, shortness of breath and hoarse voice since last 2 weeks with decrease effort tolerance. She also complained of dysphagia/ myalgia with progressive weakness of proximal muscles and palpitations. She denied chest pain, loss of appetite, weight loss, orthopnea or fever. She had stable vital signs and appeared cushingoid. She was noted to have rash over the scalp/ face and ecchymosis over the right arm with puffiness of face and periorbital oedema. There was symmetrical muscle weakness and other neurological examination was normal. Initial impression was of allergic reaction and underlying nephrotic syndrome and Cushing’s syndrome from TCM use. Diagnostic tests showed high Creatinine kinase (CK) of 1463 u/l, CK–MB of 18.7 ug/l and Troponin –T of 0.09 ug/l. The Full blood count and renal panel was normal. EMG showed inflammatory myositis. Patient was managed by rheumatologist and discharged on oral prednisolone with methotrexate/ ergocalciferol capsule and calcium carb, vitamin D tablets and outpatient follow up. In some patients, cutaneous disease exists in the absence of objective evidence of muscle inflammation. Management of dermatomyositis begins with careful investigation for the presence of muscle disease or of additional systemic involvement, particularly of the pulmonary, cardiac or gastrointestinal systems, and for the possibility of an accompanying malignancy. Muscle disease and systemic involvement can be refractory and may require multiple sequential therapeutic interventions or, at times, combinations of therapies. Thus, we want to highlight to the physicians that the cutaneous disease of dermatomyositis should not be confused with allergic reaction. It can be particularly challenging to diagnose. Early recognition aids appropriate management of this group of patients.

Keywords: dermatomyositis, myopathy, allergy, cutaneous disease

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Authors: Ceri McIntosh

Abstract:

A 25-year-old male was referred to the Maxillofacial department by his general dental practitioner with a complaint of mobile teeth. Medically he was well though he took mirtazapine for anxiety. He was found to have had previous extractions of the lower right second premolar and first molar, with grade 2 mobility of the upper right first and second molars and lower right lateral incisor. Radiographically there was significant external root resorption of these teeth, which were subsequently extracted. Over the next 18 months, the resorption continued around multiple teeth on the right side, and when the mobile teeth were removed, they showed no remaining root, including loss of coronal dentine, leaving only an enamel shell. No cause has been identified either histologically or in the patient’s blood work. A review of relevant literature will be included in this case report.

Keywords: case report, idiopathic resorption, idiopathic root resorption, external resorption

Procedia PDF Downloads 57

Authors: Kamal Chafiq, Youssef Hadzine, Adel Elmekkaoui, Othmane Benlenda, Houssam Rajad, Soukaina Wakrim, Hicham Nassik

Abstract:

Guillain-Barré syndrome/Miller Fishe syndrome (GBS/MFS) overlap syndrome is an extremely rare variant of Guillain-Barré syndrome (GBS) in which Miller Fisher syndrome (MFS) coexists with other characteristics of GBS, such as limb weakness, paresthesia, and facial paralysis. We report the clinical case of a 12-year-old patient, with no pathological history, who acutely presents with ophthalmoplegia, areflexia, facial diplegia, and swallowing and phonation disorders, followed by progressive, descending, and symmetrical paresis affecting first the upper limbs and then the lower limbs. An albuminocytological dissociation was found in the cerebrospinal fluid study. Magnetic resonance imaging of the spinal cord showed enhancement and thickening of the cauda equina roots. The patient was treated with immunoglobulins with a favorable clinical outcome.

Keywords: Guillain-Barré syndrome, Miller Fisher syndrome, overlap syndrome, anti-GQ1b antibodies

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Authors: Bandana Koirala, Shivalal Sharma

Abstract:

Introduction: Gingival enlargements are quite common and may be either inflammatory, non-inflammatory or a combination of both. Idiopathic gingival enlargement is a rare condition with a proliferative fibrous lesion of the gingival tissue that causes esthetic and functional problems. It is of undetermined etiology. Case Description: This case report addresses the diagnosis and treatment of a case of idiopathic gingival enlargement in a 9-year-old male patient. The patient presented with a generalized diffuse gingival enlargement involving the entire maxillary and the mandibular arch with extension on occlusal, buccal, lingual, and palatal surfaces with just parts of occlusal surfaces of few upper and lower molars visible resulting in open mouth, difficulty in mastication and speech. Biopsy report confirmed the diagnosis of fibromatosis gingivae. Gingivectomy was carried out in all four quadrants by using external bevel incision. Conclusion: Though total esthetics could not be restored due to unusual bony enlargement, the general appearance improved satisfactorily. Treatment after complete excision however, improved the masticatory competence to a great extent.

Keywords: idiopathic gingival fibromatosis, gingival enlargement, gingivectomy, medical and health sciences

Procedia PDF Downloads 306

Authors: Sweta Das

Abstract:

This case report highlights the atypical clinical manifestation of ipsilateral head, neck, shoulder, and eye pain with erythema and edema of right eyelid and conjunctiva, along with typical presentation of right sided Horner’s syndrome in a 37-year-old female, who was correctly diagnosed with Wallenberg syndrome due to collaborative effort from optometry, primary care, emergency, and neurology specialties in medicine. Horner’s syndrome is present in 75% of patients with Wallenberg syndrome. Given that patients with Wallenberg syndrome often first present to the Emergency Department with a vast variety of non-specific symptoms, and a normal MRI, a delayed diagnosis is common. Therefore, a collaborative effort between emergency department, optometry, primary care, and neurology is essential in correctly diagnosing Wallenberg’s syndrome in a timely manner.

Keywords: horner's syndrome, stroke, wallenberg syndrome, lateropulsion of eyes

Procedia PDF Downloads 34

Authors: Aadil Khan, Yasser Chomayil, P. P. Venugopalan

Abstract:

Background: Budd-Chiari syndrome is caused by thrombosis of the hepatic veins and/or the thrombosis of the intrahepatic or suprahepatic IVC. The etiology remains idiopathic in 16% -35% of cases. Malignancy, rheumatological disorder, myeloproliferative disease, inheritable coagulopathy, infection or hyperestrogen state can be identified in many cases. Methodology: Review of case records of the patient presented to Aster Medcity, Emergency Department, Cochin. Introduction:17 years old female was presented to ED with fever, jaundice and abdominal distention since 1 week. O/E: Pallor+, icterus+. Abdomen- gross distension+, shifting dullness+, generalized anasarca+. USG abdomen showed hepatomegaly with mild coarse echotexture and moderate to gross ascites. CT abdomen and chest showed hepatomegaly with thrombosis of all three hepatic vein and moderate ascites suggestive of Budd-Chiari syndrome. Patient was taken for catheter vein thrombolysis. Venogram done the next day revealed almost > 50% opening of the right hepatic vein. Concurrent doppler showed colour and doppler signals in middle hepatic veins. She gradually improved and was discharged home on anticoagulant and adviced regular follow up. Conclusion: Being a rare disease in this young population, high suspicion is required when evaluating young patients with abdominal pain and jaundice.

Keywords: Budd-Chiari syndrome, rare disease, abdominal pain, India

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Authors: Nisha Sharma, Mili Kaur, Ashutosh Halder, Seema Kaushal, Manoj Kumar, Manish Jain

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Purpose: To investigate microRNAs (miRNA) as an epigenomic etiological factor in idiopathic non-obstructive azoospermia (NOA). In order to achieve the same, an association was seen between occupational exposure to radiation, thermal, and chemical factors and idiopathic cases of non-obstructive azoospermia, and later, testicular differential miRNA expression profiling was done in exposure group NOA cases. Method: It is a prospective study in which 200 apparent idiopathic male factor infertility cases, who have been advised to undergo testicular fine needle aspiration (FNA) evaluation, are recruited. A detailed occupational history was taken to understand the possible type of exposure due to the nature and duration of work. A total of 26 patients were excluded upon XY-FISH and Yq microdeletion tests due to the presence of genetic causes of infertility, 6 hypospermatogeneis (HS), six Sertoli cell-only syndrome (SCOS), and six normospermatogeneis patients testicular FNA samples were used for RNA isolation followed by small RNA sequencing and nCounter miRNA expression analysis. Differential miRNA expression profile of HS and SCOS patients was done. A web-based tool, miRNet, was used to predict the interacting compounds or chemicals using the shortlisted miRNAs with high fold change. The major limitation encountered in this study was the insufficient quantity of testicular FNA sample used for total RNA isolation, which resulted in a low yield and RNA integrity number (RIN) value. Therefore, the number of RNA samples admissible for differential miRNA expression analysis was very small in comparison to the total number of patients recruited. Results: Differential expression analysis revealed 69 down-regulated and 40 up-regulated miRNAs in HS and 66 down-regulated and 33 up-regulated miRNAs in SCOS in comparison to normospermatogenesis controls. The miRNA interaction analysis using the miRNet tool showed that the differential expression profiles of HS and SCOS patients were associated with arsenic trioxide, bisphenol-A, calcium sulphate, lithium, and cadmium. These compounds are reproductive toxins and might be responsible for miRNA-mediated epigenetic deregulation leading to NOA. The association between occupational risk factor exposure and the non-exposure group of NOA patients was not statistically significant, with ꭓ2 (3, N= 178) = 6.70, p= 0.082. The association between individual exposure groups (radiation, thermal, and chemical) and various sub-types of NOA is also not significant, with ꭓ2 (9, N= 178) = 15.06, p= 0.089. Functional analysis of HS and SCOS patients' miRNA profiles revealed some important miR-family members in terms of male fertility. The miR-181 family plays a role in the differentiation of spermatogonia and spermatocytes, as well as the transcriptional regulation of haploid germ cells. The miR-34 family is expressed in spermatocytes and round spermatids and is involved in the regulation of SSCs differentiation. Conclusion: The reproductive toxins might adopt the miRNA-mediated mechanism of disease development in idiopathic cases of NOA. Chemical compound induced; miRNA-mediated epigenetic deregulation can give a future perspective on the etiopathogenesis of the disease.

Keywords: microRNA, non-obstructive azoospermia (NOA), occupational exposure, hypospermatogenesis (HS), Sertoli cell only syndrome (SCOS)

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Authors: Z. Mowafy Emam Mowafy, Ahmed R. Sayed, M. El Sayed Mohmmed Hassan

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Purpose: to evaluate the effect of low intensity laser on severe tinnitus in idiopathic sudden hearing loss patients. Methods of evaluation (Visual analogue scale and tinnitus handicap inventory scale):- Thirty patients who had unilateral tinnitus with sensorineural hearing loss were participated in the study. Subjects aged from 40 to 50 were randomly divided into two equal groups: group (A): composed of 15 patients who received the routine medical care (Systemic steroids) in addition to the low-intensity laser therapy (LILT) while group (B): composed of 15 patients who received only the routine medical care. Continuous 632.8nm He-Ne laser was used with 5mW power for 15 min\day, 3 days per week for 3 months. Results and conclusion: Results showed that application of the LILT had a valuable effect on severe tinnitus in idiopathic sudden hearing loss patients as evidenced by the highly decreased visual analogue scale and tinnitus handicap inventory scale.

Keywords: idiopathic sudden hearing loss, low intensity laser, tinnitus, tinnitus handicap inventory scale and visual analogue scale

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Authors: Mohammad Alqattan, Tala Alkhunani, Reema Al, Aldawish, Felwa Almurshard, Abdullah Alzahrani

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: Poland’s Syndrome is a congenital anomaly with two clinical features : unilateral agenesis of the pectoralis major and ipsilateral hand symbrachydactyly. Case presentation: We report a rare case of bilateral Poland’s syndrome with several unique features. Discussion: Poland’s syndrome is thought to be due to a vascular insult to the subclavian axis around the 6th week of gestation. Our patient has multiple rare and unique features of Poland’s syndrome. Conclusion: To our best knowledge, for the first time in the literature we associate Poland’s syndrome with cone-shaped epiphysis of the metacarpals of all fingers. Bilaterality, cleft hand deformity, and dextrocardia, were also rare features in our patient.

Keywords: Poland's syndrome, cleft hand deformity, bilaterality, dextrocardia, cone-shaped epiphysis

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Authors: Zandi Ahmad, Sokhanguei Yahya, Saboonchi Reza

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Objective: The new and modern lifestyle, especially in the twenty-first century and lack of movement in spinal structure have made patients and the physicians in the field of health and also other insurance companies in the developed and developing countries worry more than before about the abnormalities of spinal column- this great healthcare problem. The high prevalence of spinal column in all age groups -from children to adults- and in all professions have led the researchers to the idea of giving an opportunity to all those who worry about the dangers threatening the spinal column. Therefore, one of the corrective methods for these patients is using SEAS exercises. Materials and Methods: This study aims at investigating the effect of one-period of SEAS exercises on some spinal biomechanical and postural parameters in the students with idiopathic scoliosis. According to the nature of the study and research objectives as well as the data collection methods, the current research is a semi-empirical survey. The research population is comprised of students with idiopathic scoliosis. A total number of 30 students were selected using available sampling and divided into two groups of control and SEAS exercises. Scoliometer was used for data collection. Descriptive statistics were used to categorize the findings. Kolmogorov-Smirnov statistical models were used to confirm that the distribution of the data is normal and T-test was used for effectiveness. Hypothesis testing was done using SPSS21. Conclusion: Results show that SEAS exercises have a significant effect in Adam’s Test. Therefore, according to the obtained results, SEAS exercises can be used to recover idiopathic scoliosis among the students. Further studies in larger samples and treatment, periods as well as more follow-up investigations appear to be essential to prove these effects.

Keywords: SEAS exercises, idiopathic scoliosis, Adam’s test, exercise

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Authors: Angelis P. Barlampas

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Objective: The confusion of terms is a common practice in many situations of the everyday life. But, in some circumstances, such as in medicine, the precise meaning of a word curries a critical role for the health of the patient. Fahr disease and Fahr syndrome are often falsely used interchangeably, but they are two different conditions with different physical histories of different etiology and different medical management. A case of the seldom Fahr disease is presented, and a comparison with the more common Fahr syndrome follows. Materials and method: A 72 years old patient came to the emergency department, complaining of some kind of non specific medal disturbances, like anxiety, difficulty of concentrating, and tremor. The problems had a long course, but he had the impression of getting worse lately, so he decided to check them. Past history and laboratory tests were unremarkable. Then, a computed tomography examination was ordered. Results: The CT exam showed bilateral, hyperattenuating areas of heavy, dense calcium type deposits in basal ganglia, striatum, pallidum, thalami, the dentate nucleus, and the cerebral white matter of frontal, parietal and iniac lobes, as well as small areas of the pons. Taking into account the absence of any known preexisting illness and the fact that the emergency laboratory tests were without findings, a hypothesis of the rare Fahr disease was supposed. The suspicion was confirmed with further, more specific tests, which showed the lack of any other conditions which could probably share the same radiological image. Differentiating between Fahr disease and Fahr syndrome. Fahr disease: Primarily autosomal dominant Symmetrical and bilateral intracranial calcifications The patient is healthy until the middle age Absence of biochemical abnormalities. Family history consistent with autosomal dominant Fahr syndrome :Earlier between 30 to 40 years old. Symmetrical and bilateral intracranial calcifications Endocrinopathies: Idiopathic hypoparathyroidism, secondary hypoparathyroidism, hyperparathyroidism, pseudohypoparathyroidism ,pseudopseudohypoparathyroidism, e.t.c The disease appears at any age There are abnormal laboratory or imaging findings. Conclusion: Fahr disease and Fahr syndrome are not the same illness, although this is not well known to the inexperienced doctors. As clinical radiologists, we have to inform our colleagues that a radiological image, along with the patient's history, probably implies a rare condition and not something more usual and prompt the investigation to the right route. In our case, a genetic test could be done earlier and reveal the problem, and thus avoiding unnecessary and specific tests which cost in time and are uncomfortable to the patient.

Keywords: fahr disease, fahr syndrome, CT, brain calcifications

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Authors: Anna D. Kotrova, Alexandr N. Shishkin, Elena I. Ermolenko

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The aim. To study the quantitative and qualitative colon bacteria ratio from patients with metabolic syndrome. Materials and methods. Fecal samples from patients of 2 groups were identified and analyzed: the first group was formed by patients with metabolic syndrome, the second one - by healthy individuals. The metagenomics method was used with the analysis of 16S rRNA gene sequences. The libraries of the variable sites (V3 and V4) gene 16S RNA were analyzed using the MiSeq device (Illumina). To prepare the libraries was used the standard recommended by Illumina, a method based on two rounds of PCR. Results. At the phylum level in the microbiota of patients with metabolic syndrome compared to healthy individuals, the proportion of Tenericutes was reduced, the proportion of Actinobacteria was increased. At the genus level, in the group with metabolic syndrome, relative to the second group was increased the proportion of Lachnospira. Conclusion. Changes in the colon bacteria ratio in the gut microbiota of patients with metabolic syndrome were found both at the type and the genus level. In the metabolic syndrome group, there is a decrease in the proportion of bacteria that do not have a cell wall. To confirm the revealed microbiota features in patients with metabolic syndrome, further study with a larger number of samples is required.

Keywords: gut microbiota, metabolic syndrome, metagenomics, tenericutes

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Authors: Armaghan Moravej Aleali, Hajieh Shahbazian, Seyed Mahmoud Latifi, Leila Yazdanpanah

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Objective: Metabolic syndrome or insulin resistance syndrome or syndrome X is a collection of abdominal obesity, hypertension, glucose intolerance and lipid abnormalities (elevated triglycerides, elevated LDL, and decrease the amount of HDL). That increases the incidence of diabetes and risk of cardiovascular disease. The aim of this study is to investigate the prevalence of metabolic syndrome in people over 20 years of Ahvaz according to IDF, ATPIII, Harmonized I and Harmonized II. Material & Methods: A cross-sectional study with a random cluster sampling in six health centers in Ahvaz was done. After obtaining informed consent, questionnaire for each person filled up including demographic data and examinations, including blood pressure in sitting position, weight, height, waist circumference, and waist circumference measurement. Results: From all participating 912 people, (434 (2/47%) male and 478 (2/52%) female) were evaluated. Mean age was 42/27± 14years (44/2±14/26 for male and 40/5±13/5 for female). Prevalence of metabolic syndrome was 22/8%, 28/4%, 30/9% and 16/9% according to ATPIII, IDF, Harmonized I and Harmonized II criteria respectively and increased with age in both sexes. IDF and Harmonized I had most kappa coordination (0/94). Conclusion: The results show a high prevalence of metabolic syndrome in Ahvaz. So, identification of the risk factors should be attempted to prevent metabolic syndrome.

Keywords: metabolic syndrome, IDF, ATP III, prevalence

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Authors: Reham H. Diab, Amira A. A. Abdallah, Eman A. Embaby

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Background: The effectiveness of bracing on preventing spino-pelvic alignment deterioration in idiopathic scoliosis has been extensively studied especially in the frontal plane. Yet, there is lack of knowledge regarding the effect of soft braces on spino-pelvic alignment in the sagittal plane. Achieving harmonious sagittal plane spino-pelvic balance is critical for the preservation of physiologic posture and spinal health. Purpose: This study examined the kyphotic angle, lordotic angle and pelvic inclination in the sagittal plane and trunk imbalance in the frontal plane before and after a six-month rehabilitation period. Methods: Nineteen patients with idiopathic scoliosis participated in the study. They were divided into two groups; experimental and control. The experimental group (group I) used the SpineCor brace in addition to a rehabilitation exercise program while the control group (group II) had the exercise program only. The mean ±SD age, weight and height were 16.89±2.15 vs. 15.3±2.5 years; 59.78±6.85 vs. 62.5±8.33 Kg and 162.78±5.76 vs. 159±5.72 cm for group I vs. group II. Data were collected using for metric Π system. Results: Mixed design MANOVA showed that there were significant (p < 0.05) decreases in all the tested variables after the six-month period compared with “before” in both groups. Moreover, there was a significant decrease in the kyphotic angle in group I compared with group II after the six-month period. Interpretation and conclusion: SpineCor brace is beneficial in reducing spino-pelvic alignment deterioration in both sagittal and frontal planes.

Keywords: adolescent idiopathic scoliosis, SpineCor, spino-pelvic alignment, biomechanics

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Authors: Olha Yarova

Abstract:

This study is a collaborative project between the American University of Central Asia and parent association of children with Down syndrome ‘Sunterra’ that took place in Bishkek, Kyrgyzstan. The purpose of the study was to explore whether principles and techniques of applied behavior analysis (ABA) could be used to teach children with Down syndrome socially significant behaviors. ABA is considered to be one of the most effective treatment for children with autism, but little research is done on the particularity of using ABA to children with Down syndrome. The data for the study was received during clinical observations; work with children with Down syndrome and interviews with their mothers. The results show that many ABA principles make the work with children with Down syndrome more effective. Although such children very rarely demonstrate aggressive behavior, they show a lot of escape-driven and attention seeking behaviors that are reinforced by their parents and educators. Thus functional assessment can be done to assess the function of problem behavior and to determine appropriate treatment. Prompting and prompting fading should be used to develop receptive and expressive language skills, and enhance motor development. Even though many children with Down syndrome work for praise, it is still relevant to use tangible reinforcement and to know how to remove them. Based on the results of the study, the training for parents of children with Down syndrome will be developed in Kyrgyzstan, country, where children with Down syndrome are not accepted to regular kindergartens and where doctors in maternity hospitals tell parents that their child will never talk, walk and recognize them

Keywords: down syndrome, applied behavior analysis, functional assessment, problem behavior, reinforcement

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Authors: Fu-Chien Hung, Chi‐Wen Liang

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Background: People who suffer from chronic fatigue syndrome (CFS) frequently complain about continuous tiredness, weakness or lack of strength, but without apparent organic etiology. The prevalence rate of the CFS is nearly from 3% to 20%, yet more than 80% go undiagnosed or misdiagnosed as depression. The biopsychosocial model has suggested the associations among the CFS, depressive syndrome, and stress. This study aimed to investigate the difference between individuals with the CFS and with the depressive syndrome on psychophysiological responses under stress. Method: There were 23 participants in the CFS group, 14 participants in the depression group, and 23 participants in the healthy control group. All of the participants first completed the measures of demographic data, CFS-related symptoms, daily life functioning, and depressive symptoms. The participants were then asked to perform a stressful cognitive task. The participants’ psychophysiological responses including the HR, BVP and SC were measured during the task. These indexes were used to assess the reactivity and recovery rates of the automatic nervous system. Results: The stress reactivity of the CFS and depression groups was not different from that of the healthy control group. However, the stress recovery rate of the CFS group was worse than that of the healthy control group. Conclusion: The results from this study suggest that the CFS is a syndrome which can be independent from the depressive syndrome, although the depressive syndrome may include fatigue syndrome.

Keywords: chronic fatigue syndrome, depression, stress response, misdiagnosis

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