keyword
MENU ▼
Read by QxMD icon Read
search

treatment of intellectual disabled patient's

keyword
https://www.readbyqxmd.com/read/28057044/tuberous-sclerosis-registry-to-increase-disease-awareness-tosca-baseline-data-on-2093-patients
#1
John C Kingswood, Guillaume B d'Augères, Elena Belousova, José C Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Rima Nabbout, Finbar O'Callaghan, Mirjana P Benedik, Jiong Qin, Ruben Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. METHODS: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28008256/blonanserin-treatment-in-patients-with-methamphetamine-induced-psychosis-comorbid-with-intellectual-disabilities
#2
Kosuke Okazaki, Manabu Makinodan, Kazuhiko Yamamuro, Tomoyo Takata, Toshifumi Kishimoto
OBJECTIVE: Methamphetamine (MA) use has recently been associated with high levels of psychiatric hospitalization and serious social dysfunction. MA use causes frequent psychotic symptoms, which can be treated with antipsychotics. However, people with intellectual disabilities (ID) are vulnerable to adverse effects resulting from treatment with antipsychotic medications. METHOD: We report two cases of MA-induced psychosis (MAP) in patients with ID who were treated with the antipsychotic blonanserin...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28007270/implantation-of-a-left-ventricular-assist-device-for-danon-cardiomyopathy
#3
Hiroto Kitahara, Kan Nawata, Osamu Kinoshita, Yoshifumi Itoda, Yukako Shintani, Masashi Fukayama, Minoru Ono
This is the first report of Danon cardiomyopathy managed with a left ventricular assist device (LVAD). Danon disease is an X-linked dominant inheritance disorder. Heart failure with Danon cardiomyopathy results in a poor prognosis, and heart transplantation is the treatment of choice. We present two cases of successful implantation of an LVAD for Danon cardiomyopathy. Patient 1 was in the dilatated phase of hypertrophic cardiomyopathy (HCM) with Danon cardiomyopathy, and she underwent LVAD implantation. She is waiting for transplantation...
January 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/27995398/a-slc39a8-variant-causes-manganese-deficiency-and-glycosylation-and-mitochondrial-disorders
#4
Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, David R Thorburn, Kristina Prelog, Melanie Bahlo, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou
SLC39A8 variants have recently been reported to cause a type II congenital disorder of glycosylation (CDG) in patients with intellectual disability and cerebellar atrophy. Here we report a novel SLC39A8 variant in siblings with features of Leigh-like mitochondrial disease. Two sisters born to consanguineous Lebanese parents had profound developmental delay, dystonia, seizures and failure to thrive. Brain MRI of both siblings identified bilateral basal ganglia hyperintensities on T2-weighted imaging and cerebral atrophy...
December 19, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27988864/the-potential-relevance-of-docosahexaenoic-acid-and-eicosapentaenoic-acid-to-the-etiopathogenesis-of-childhood-neuropsychiatric-disorders
#5
REVIEW
Alessandra Tesei, Alessandro Crippa, Silvia Busti Ceccarelli, Maddalena Mauri, Massimo Molteni, Carlo Agostoni, Maria Nobile
Over the last 15 years, considerable interest has been given to the potential role of omega-3 polyunsaturated fatty acids (PUFAs) for understanding pathogenesis and treatment of neurodevelopmental and psychiatric disorders. This review aims to systematically investigate the scientific evidence supporting the hypothesis on the omega-3 PUFAs deficit as a risk factor shared by different pediatric neuropsychiatric disorders. Medline PubMed database was searched for studies examining blood docosahexaenoic acid (DHA) or eicosapentaenoic acid (EPA) status in children with neuropsychiatric disorders...
December 17, 2016: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/27978580/toilet-phobia-and-toilet-refusal-in-children
#6
Catharina Wagner, Justine Niemczyk, Alexander von Gontard
Objective: Toilet refusal syndrome (TRS) is a common disorder in toddlers, defined by use of diapers and refusal of toilet for defecation, while toilet phobia (TP) is a rare disorder in which toilets are avoided completely. Both disorders have not been described systematically in children, yet. Therefore, the aim was to present typical case vignettes illustrating different clinical presentations of TP and TRS. Methods: 5 typical cases were selected from all patients presented at a specialized outpatient clinic for incontinence at a tertiary university hospital during the last 3 years...
December 15, 2016: Klinische Pädiatrie
https://www.readbyqxmd.com/read/27973943/correlation-between-body-movements-and-salivary-secretion-during-sedation
#7
Yoko Sasaki, Seiichi Kato, Masaaki Miura, Haruhisa Fukayama
During dental sedation, control of the cough reflex is crucial for a safe and smooth procedure. Accumulated saliva is one of the predisposing factors for coughing. Body movements during dental sedation appear to enhance salivation. Therefore, the aim of this study was to investigate the difference in salivary secretion between the with-movements state and the without-movements state during sedation. Salivary weight for 1 min was measured 3 times in 27 patients with intellectual disability during dental treatment under deep sedation with midazolam and propofol...
2016: Anesthesia Progress
https://www.readbyqxmd.com/read/27927236/chronic-infantile-neurological-cutaneous-and-articular-cinca-syndrome-a-review
#8
REVIEW
Martina Finetti, Alessia Omenetti, Silvia Federici, Roberta Caorsi, Marco Gattorno
INTRODUCTION: The Chronic Infantile Neurological Cutaneous and Articular (CINCA, or Neonatal-onset multisystem inflammatory disease NOMID) is a rare autoinflammatory disease identified in 1987 by Prieur et al., typically characterized by the triad of skin rash, arthropathy and central nervous system manifestations. It represents the most severe phenotype of the cryopyrin-associated periodic syndrome (CAPS). CLINICAL DESCRIPTION AND ETIOLOGY: The syndrome is due to autosomal dominant gain of function mutations in NLRP3, which encodes a key component of the innate immunity that regulates the activation and secretion of interleukin (IL)-1β...
December 7, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27922856/health-profiles-and-associated-service-use-among-adults-with-hiv-and-intellectual-and-developmental-disabilities
#9
Yona Lunsky, Anna Durbin, Hilary K Brown, Symron Bansal, Marina Heifetz, Tony Antoniou
OBJECTIVE (S): Due to the commonly held notion that individuals with intellectual and developmental disabilities (IDD) have low risk of HIV acquisition, we compared the prevalence of HIV infection among people with and without IDD. We also examined health status and health service use among the HIV-infected group. DESIGN: Population-based cohort study using linked administrative health and social services databases. METHODS: We compared HIV prevalence between Ontario adults with IDD (n=64,008) and a 20% random sample of Ontario adults without IDD...
December 5, 2016: AIDS
https://www.readbyqxmd.com/read/27922243/late-diagnosed-phenylketonuria-in-an-eight-year-old-boy-with-dyslexia-and-attention-deficit-hyperactivity-disorder
#10
Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Hatice Serap Sivri
Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs. Here, we report a male patient presenting with dyslexia and attention-deficit hyperactivity disorder, who was diagnosed with mild phenylketonuria at eight years of age. Earlier recognition and treatment before the establishment of irreversible brain damage would have resulted in better neurobehavioural outcomes. Classical phenylketonuria and milder phenotypes of phenylalanine hydroxylase deficiency need to be considered in the differential diagnosis of all cognitive and behavioural problems of unknown cause...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27920633/lesch-nyhan-syndrome-models-theories-and-therapies
#11
REVIEW
Scott Bell, Ilaria Kolobova, Liam Crapper, Carl Ernst
Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in HPRT1, an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-mutilation. Despite having been characterized over 50 years ago, it remains unclear precisely how deficits in hypoxanthine and guanine recycling can lead to such a profound neurological phenotype. Several studies have proposed different hypotheses regarding the etiology of this disease, and several treatments have been tried in patients, though none have led to a satisfactory explanation of the disease...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920085/quality-of-prescribing-of-antipsychotic-medication-for-people-with-intellectual-disability-under-the-care-of-uk-mental-health-services-a-cross-sectional-audit-of-clinical-practice
#12
Carol Paton, Sumera Bhatti, Kiran Purandare, Ashok Roy, Tre Barnes
OBJECTIVES: To determine the prevalence and quality of antipsychotic prescribing for people with intellectual disability (ID). DESIGN: A clinical audit of prescribing practice in the context of a quality improvement programme. Practice standards for audit were derived from relevant, evidence-based guidelines, including NICE. Data were mainly collected from the clinical records, but to determine the clinical rationale for using antipsychotic medication in individual cases, prescribers could also be directly questioned...
December 5, 2016: BMJ Open
https://www.readbyqxmd.com/read/27906067/aspartylglycosaminuria-a-review
#13
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
#14
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
#15
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...
January 2017: 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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
85030
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"