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https://www.readbyqxmd.com/read/27906067/aspartylglycosaminuria-a-review
#1
REVIEW
Maria Arvio, Ilkka Mononen
Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condition affecting on the patient's appearance, cognition, adaptive skills, physical growth, personality, body structure, and health. An infantile growth spurt and development of macrocephalia associated to hernias and respiratory infections are the key signs to an early identification of AGU. Progressive intellectual and physical disability is the main symptom leading to death usually before the age of 50 years...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27901303/diagnostic-masking-and-overshadowing-in-intellectual-disability-how-structured-evaluation-helps
#2
Harshini Manohar, Karthick Subramanian, Preeti Kandasamy, Venkatalakshmi Penchilaiya, Anandbabu Arun
PROBLEM: Comorbid psychiatric diagnoses tend to be underdiagnosed in patients with intellectual disability. Diagnosing anxiety disorders in such patients can pose challenges, in particular with regard to obsessive and compulsive disorder (OCD). METHODS: We present the case of an adolescent diagnosed with intellectual disability with poor expressive language skills who presented with nonspecific mood and behavioral symptoms, not improving with routine clinical evaluations and treatment...
November 30, 2016: Journal of Child and Adolescent Psychiatric Nursing
https://www.readbyqxmd.com/read/27900874/human-pluripotent-stem-cells-in-modeling-human-disorders-the-case-of-fragile-x-syndrome
#3
Dan Vershkov, Nissim Benvenisty
Human pluripotent stem cells (PSCs) generated from affected blastocysts or from patient-derived somatic cells are an emerging platform for disease modeling and drug discovery. Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, was one of the first disorders modeled in both embryonic stem cells and induced PCSs and can serve as an exemplary case for the utilization of human PSCs in the study of human diseases. Over the past decade, FXS-PSCs have been used to address the fundamental questions regarding the pathophysiology of FXS...
November 30, 2016: Regenerative Medicine
https://www.readbyqxmd.com/read/27898362/psychogenic-non-epileptic-seizure-in-patients-with-intellectual-disability-with-special-focus-on-choice-of-therapeutic-intervention
#4
Kousuke Kanemoto, Hiroko Goji, Yukari Tadokoro, Etsushi Kato, Tomohiro Oshima
PURPOSE: There have been a number of studies exploring treatments for psychogenic non-epileptic seizure (PNES) but largely neglecting the sizable subgroup of patients with intellectual disability (ID). In the present study, we attempted to demonstrate effects and preferred modes of therapeutic intervention in PNES patients with ID being treated at a Japanese municipal center with a short referral chain. METHODS: We examined 46 PNES patients with ID (ID group) and 106 PNES patients without ID (non-ID group) retrospectively in case charts...
November 14, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27898272/partial-hydatidiform-mole-in-a-phenylketonuria-patient-treated-with-sapropterin-dihydrochloride
#5
Yilmaz Yildiz, Ali Dursun, Aysegul Tokatli, Turgay Coskun, Serap Sivri
Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome. Sapropterin dihydrochloride (SD), an alternative or adjunct to dietary therapy in patients with tetrahydrobiopterin (BH4)-responsive PKU, has recently been used in several cases to treat PKU during pregnancy with satisfactory results...
November 29, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27882480/phenotype-biochemical-features-genotype-and-treatment-outcome-of-pyridoxine-dependent-epilepsy
#6
Amal Al Teneiji, Theodora U J Bruun, Dawn Cordeiro, Jaina Patel, Michal Inbar-Feigenberg, Shelly Weiss, Eduard Struys, Saadet Mercimek-Mahmutoglu
We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogenic variants in ALDH7A1 (PDE-ALDH7A1). We developed a clinical severity score to compare phenotype with biochemical features, genotype and delays in the initiation of pyridoxine. Clinical severity score included 1) global developmental delay/ intellectual disability; 2) age of seizure onset prior to pyridoxine; 3) current seizures on treatment. Phenotype scored 1-3 = mild; 4-6 = moderate; and 7-9 = severe...
November 23, 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27872899/de-novo-fgf12-mutation-in-2-patients-with-neonatal-onset-epilepsy
#7
Ilaria Guella, Linda Huh, Marna B McKenzie, Eric B Toyota, E Martina Bebin, Michelle L Thompson, Gregory M Cooper, Daniel M Evans, Sarah E Buerki, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Mary B Connolly, Matthew J Farrer, Michelle Demos
OBJECTIVE: We describe 2 additional patients with early-onset epilepsy with a de novo FGF12 mutation. METHODS: Whole-exome sequencing was performed in 2 unrelated patients with early-onset epilepsy and their unaffected parents. Genetic variants were assessed by comparative trio analysis. Clinical evolution, EEG, and neuroimaging are described. The phenotype and response to treatment was reviewed and compared to affected siblings in the original report. RESULTS: We identified the same FGF12 de novo mutation reported previously (c...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27858369/cerebrotendinous-xanthomatosis-presenting-with-infantile-spasms-and-intellectual-disability
#8
Austin Larson, James D Weisfeld-Adams, Tim A Benke, Penelope E Bonnen
Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestations include tendon xanthomas, polyneuropathy, and abnormal neuroimaging. Pathogenic biallelic variants in CYP27A1 leading to compromised function of sterol 27-hydroxylase result in accumulation of detectable toxic intermediates of bile acid synthesis rendering both genetic and biochemical testing effective diagnostic tools...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27857842/zebrafish-models-of-prader-willi-syndrome-fast-track-to-pharmacotherapeutics
#9
Emma D Spikol, Caroline E Laverriere, Maya Robnett, Gabriela Carter, Erin Wolfe, Eric Glasgow
Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder characterized by an insatiable appetite, leading to chronic overeating and obesity. Additional features include short stature, intellectual disability, behavioral problems and incomplete sexual development. Although significant progress has been made in understanding the genetic basis of PWS, the mechanisms underlying the pathogenesis of the disorder remain poorly understood. Treatment for PWS consists mainly of palliative therapies; curative therapies are sorely needed...
March 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/27847652/orthodontic-protocol-using-mini-implant-for-class-ii-treatment-in-patient-with-special-needs
#10
Fernando Pedrin Carvalho Ferreira, Anderson Paulo Barbosa Lima, Eliana de Cássia Molina de Paula, Ana Claudia de Castro Ferreira Conti, Danilo Pinelli Valarelli, Renata Rodrigues de Almeida-Pedrin
Improving facial and dental appearance and social interaction are the main factors for special needs (SN) patients to seek orthodontic treatment. The cooperation of SN patients and their parents is crucial for treatment success. Objective. To show through a case report the satisfactory results, both functional and esthetic, in patients with intellectual disability, congenital nystagmus, and severe scoliosis. Materials Used. Pendulum device with mini-implants as anchorage unit. Results. Improvement of facial and dental esthetics, correction of Class II malocclusion, and no root resorption shown in the radiographic follow-up...
2016: Case Reports in Dentistry
https://www.readbyqxmd.com/read/27809925/guided-self-help-interventions-for-mental-health-disorders-in-children-with-neurological-conditions-study-protocol-for-a-pilot-randomised-controlled-trial
#11
Sophie Bennett, Isobel Heyman, Anna Coughtrey, Jess Simmonds, Sophia Varadkar, Terence Stephenson, Margaret DeJong, Roz Shafran
BACKGROUND: Rates of mental health disorders are significantly greater in children with physical illnesses than in physically well children. Children with neurological conditions, such as epilepsy, are known to have particularly high rates of mental health disorders. Despite this, mental health problems in children with neurological conditions have remained under-recognised and under-treated in clinical settings. Evidence-based guided self-help interventions are efficacious in reducing symptoms of mental health disorders in children, but their efficacy in reducing symptoms of common mental health disorders in children with neurological conditions has not been investigated...
November 4, 2016: Trials
https://www.readbyqxmd.com/read/27806796/-dynamin-1-related-infantile-spasms-a-case-report-and-review-of-literature
#12
X L Deng, F Yin, C L Zhang, Y P Ma, F He, L W Wu, J Peng
Objective: To analyze the clinical and gene mutation characteristics of dynamin-1 (DNM1)-related infantile spasms. Method: Clinical, laboratory and genetic data of one case of DNM1-related infantile spasms diagnosed by Xiangya Hospital in September 2015 were analyzed.Through taking "Dynamin-1" "DNM1" as key words to search at CNKI, Wanfang, PubMed and OMIM to date (April 2016), the clinical characteristics of 9 reported cases of DNM1-related epileptic encephalopathy in international literature with our case were reviewed...
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27805733/the-feasibility-of-office-based-propofol-sedation-for-dental-care-in-patients-with-intellectual-disability-by-sedation-practitioners
#13
Hermanus H B Vaessen, Antonius N J Schouten, Henriette van der Hoeve, Johannes T A Knape
BACKGROUND: The quality of oral health care for intellectually disabled patients is a significant challenge due to behavioral issues. Intravenous propofol sedation may be useful to relieve the anxiety and fear, and make dental procedures more acceptable. The aim of this study was to evaluate the safety and effectiveness of propofol sedation, by trained nonmedical sedation practitioners, during dental treatments in an office-based setting. METHODS: Intellectually disabled patients (124) were subjected to restorative dental procedures and moderately sedated using intravenous propofol...
November 2, 2016: Special Care in Dentistry
https://www.readbyqxmd.com/read/27797585/beneficial-effects-of-everolimus-on-autism-and-attention-deficit-hyperactivity-disorder-symptoms-in-a-group-of-patients-with-tuberous-sclerosis-complex
#14
Ayse Kilincaslan, Burcu Ece Kok, Pinar Tekturk, Cengiz Yalcinkaya, Cigdem Ozkara, Zuhal Yapici
OBJECTIVES: Such neuropsychiatric symptoms as autism spectrum disorders, attention-deficit/hyperactivity disorder (ADHD), intellectual disability, aggression, and epilepsy are very common in patients with tuberous sclerosis complex (TSC). Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, is a recent and effective treatment for TSC patients with giant cell astrocytomas and renal angiomyolipoma, and it has been shown to have a potential to reduce tumor volume. However, there is a paucity of studies on the effects of everolimus on neuropsychiatric symptoms...
October 31, 2016: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/27761412/plasma-amino-acid-and-urine-organic-acid-profiles-of-filipino-patients-with-maple-syrup-urine-disease-msud-and-correlation-with-their-neurologic-features
#15
Mary Anne D Chiong, Marilyn A Tan, Cynthia P Cordero, Esphie Grace D Fodra, Judy S Manliguis, Cristine P Lopez, Leslie Michelle M Dalmacio
BACKGROUND: Maple syrup urine disease (MSUD) is the most common inborn error of metabolism in the country. The cause of the neuropathology is still not well established although accumulation of branched chain amino acids (BCAA) and alteration in large neutral amino acids (LNAA) as well as energy deprivation are suggested. It is therefore the aim of this study to determine the plasma amino acid and urine organic acid profiles of patients with MSUD and correlate the findings with their neurologic features...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27757568/bone-mineral-density-and-vitamin-d-status-in-children-with-epilepsy-cerebral-palsy-and-cerebral-palsy-with-epilepsy
#16
Ayse Tosun, Seda Erisen Karaca, Tolga Unuvar, Yakup Yurekli, Cigdem Yenisey, Imran Kurt Omurlu
PURPOSE: We aimed to evaluate the relationship between bone mineral density (BMD) disorders and possible risk factors in patients with epilepsy only (EO), cerebral palsy only (CPO), and cerebral palsy-epilepsy (CP + E). METHODS: A total of 122 patients [EO (n = 54), CPO (n = 30), CP + E (n = 38)] and 30 healthy children were evaluated. BMD was only measured in patient groups, not in control subjects. BMD of lumbar vertebrae was determined by dual energy X-ray absorptiometry (DXA)...
October 18, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27752368/challenges-in-diagnosis-and-treatment-of-lung-cancer-in-people-with-intellectual-disabilities-current-state-of-knowledge
#17
Daniel Satgé, Emmanuelle Kempf, Jean-Bernard Dubois, Motoi Nishi, Jean Trédaniel
As the life expectancy of people with intellectual disability (ID) has progressed, they have become similarly at risk of cancer as individuals of the general population. Epidemiological studies indicate a reduced incidence and mortality from lung cancer in the total population of persons with ID. However, the pattern is heterogeneous and the risk is strongly correlated with the impairment level; persons with mild intellectual impairment have higher cancer risk, and this subgroup also has the highest tobacco consumption (the major risk factor for lung cancer) compared to individuals with more severe impairment...
2016: Lung Cancer International
https://www.readbyqxmd.com/read/27745925/efficacy-and-tolerability-of-levetiracetam-for-pediatric-refractory-epilepsy
#18
Kazuhiro Muramatsu, Noriko Sawaura, Tomomi Ogata, Nishiki Makioka, Keiko Tomita, Toshino Motojima, Kuniko Ida, Kyoko Hazama, Hirokazu Arakawa
INTRODUCTION: Levetiracetam has a high tolerability and is effective against various seizure types and epilepsy syndromes. However, no study has specifically evaluated the efficacy of levetiracetam in children with refractory epilepsy based on magnetic resonance imaging (MRI) findings and the presence of intellectual disability (ID). METHODS: We retrospectively evaluated levetiracetam efficacy and safety in 49 pediatric patients who met the following inclusion criteria: (1) diagnosis of refractory epilepsy with first-line antiepileptic (AED) treatment ⩾2years, (2) younger than 20years old, and (3) received oral levetiracetam treatment for ⩾6months...
October 13, 2016: Brain & Development
https://www.readbyqxmd.com/read/27743886/a-case-of-early-onset-epileptic-encephalopathy-with-de-novo-mutation-in-slc35a2-clinical-features-and-treatment-for-epilepsy
#19
Tomokazu Kimizu, Yukitoshi Takahashi, Taikan Oboshi, Asako Horino, Takayoshi Koike, Shinsaku Yoshitomi, Tatsuo Mori, Tokito Yamaguchi, Hiroko Ikeda, Nobuhiko Okamoto, Mitsuko Nakashima, Hirotomo Saitsu, Mitsuhiro Kato, Naomichi Matsumoto, Katsumi Imai
INTRODUCTION: Mutations of SLC35A2 that encodes Golgi-localized Uridine diphosphate (UDP)-galactose transporter at Xp11.23 lead to congenital disorders of glycosylation (CDG). Although patients with CDG generally have diverse systemic symptoms, patients with a SLC35A2 mutation manifest predominantly disorders of the central nervous system (CNS). CASE REPORT: A female infant aged 12months was referred to our center because of intractable seizures. The patient was born with birth weight of 3228g after 40weeks of unremarkable gestation...
October 12, 2016: Brain & Development
https://www.readbyqxmd.com/read/27725927/a-developmental-and-sequenced-one-to-one-educational-intervention-for-autism-spectrum-disorder-a-randomized-single-blind-controlled-trial
#20
Antoine Tanet, Annik Hubert-Barthelemy, Graciela C Crespin, Nicolas Bodeau, David Cohen, Catherine Saint-Georges
INTRODUCTION: Individuals with autism spectrum disorder (ASD) who also exhibit severe-to-moderate ranges of intellectual disability (ID) still face many challenges (i.e., less evidence-based trials, less inclusion in school with peers). METHODS: We implemented a novel model called the "Developmental and Sequenced One-to-One Educational Intervention" (DS1-EI) in 5- to 9-year-old children with co-occurring ASD and ID. The treatment protocol was adapted for school implementation by designing it using an educational agenda...
2016: Frontiers in Pediatrics
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