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treatment of intellectual disabled patient's

Nora Stünkel-Grees, Jens Clausen, Alexander Wünsch
Outpatient Psychotherapy for Children and Adolescents with Intellectual Disability The psychiatric morbidity risk for people with intellectual disability is considerably increased. Psychotherapy is considered as one possible treatment. Among experts the caresituation is described as substantial insufficient. This study investigated the perspective of psychotherapists for children and adolescents in the German state North Rhine-Westphalia regarding the care situation of outpatient psychotherapy for children and adolescents with intellectual disability...
March 2018: Praxis der Kinderpsychologie und Kinderpsychiatrie
Huihui Sun, Naijun Wan, Xinli Wang, Liang Chang, Dazhi Cheng
18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions...
March 16, 2018: Cytogenetic and Genome Research
Irene Tuffrey-Wijne, Leopold Curfs, Ilora Finlay, Sheila Hollins
BACKGROUND: Euthanasia and assisted suicide (EAS) have been legally possible in the Netherlands since 2001, provided that statutory due care criteria are met, including: (a) voluntary and well-considered request; (b) unbearable suffering without prospect of improvement; (c) informing the patient; (d) lack of a reasonable alternative; (e) independent second physician's opinion. 'Unbearable suffering' must have a medical basis, either somatic or psychiatric, but there is no requirement of limited life expectancy...
March 5, 2018: BMC Medical Ethics
Wiebe Braam, Friederike Ehrhart, Anneke P H M Maas, Marcel G Smits, Leopold Curfs
BACKGROUND: It is assumed that autism spectrum disorder (ASD) is caused by a combination of de novo inherited variation and common variation as well as environmental factors. It often co-occurs with intellectual disability (ID). Almost eight hundred potential causative genetic variations have been found in ASD patients. However, not one of them is responsible for more than 1% of ASD cases. Low melatonin levels are a frequent finding in ASD patients. Melatonin levels are negatively correlated with severity of autistic impairments, it is important for normal neurodevelopment and is highly effective in protecting DNA from oxidative damage...
February 28, 2018: Research in Developmental Disabilities
Georgios Schoretsanitis, Michael Paulzen, Stefan Unterecker, Markus Schwarz, Andreas Conca, Gerald Zernig, Gerhard Gründer, Ekkerhard Haen, Pierre Baumann, Niels Bergemann, Hans Willi Clement, Katharina Domschke, Gabriel Eckermann, Karin Egberts, Manfred Gerlach, Christine Greiner, Ursula Havemann-Reinecke, Gudrun Hefner, Renate Helmer, Ger Janssen, Eveline Jaquenoud-Sirot, Gerd Laux, Thomas Messer, Rainald Mössner, Matthias J Müller, Bruno Pfuhlmann, Peter Riederer, Alois Saria, Bernd Schoppek, Margarete Silva Gracia, Benedikt Stegmann, Werner Steimer, Julia C Stingl, Manfred Uhr, Sven Ulrich, Roland Waschgler, Gabriela Zurek, Christoph Hiemke
OBJECTIVES: Therapeutic drug monitoring (TDM) combines the quantification of drug concentrations in blood, pharmacological interpretation and treatment guidance. TDM introduces a precision medicine tool in times of increasing awareness of the need for personalized treatment. In neurology and psychiatry, TDM can guide pharmacotherapy for patient subgroups such as children, adolescents, pregnant women, elderly patients, patients with intellectual disabilities, patients with substance use disorders, individuals with pharmacokinetic peculiarities and forensic patients...
March 1, 2018: World Journal of Biological Psychiatry
Olav B Nielssen, William Stone, Naidene M Jones, Sarah Challis, Amelia Nielssen, Gordon Elliott, Nicholas Burns, Astrid Rogoz, Lucy E Cooper, Matthew M Large
OBJECTIVE: To describe the characteristics of people attending mental health clinics at shelters for the homeless in inner city Sydney. DESIGN: Retrospective review of medical records of homeless hostel clinic attenders. SETTING: Mental health clinics located in three inner city homeless hostels. PARTICIPANTS: Consecutive series of clinic attenders, 21 July 2008 - 31 December 2016. MAIN OUTCOME MEASURES: Demographic characteristics; social, medical and mental health histories of homeless people...
March 5, 2018: Medical Journal of Australia
Susanne Thümmler, Emmanuelle Dor, Renaud David, Graziella Leali, Michele Battista, Alexia David, Florence Askenazy, Céline Verstuyft
Background: Severe mental health disorders in children and adolescents represent a major public health problem. Despite adequate drug treatment, some patients develop pharmacoresistant disease. As a consequence, physicians are confronted with prescribing challenges, prolonged hospitalization and increased risk of adverse events, thus aggravating short-, medium-, and long-term prognosis. The majority of psychotropic treatments, particularly antipsychotics and antidepressants, are metabolized at hepatic level by cytochrome P450 (CYP), particularly by CYP3A4 and CYP2D6...
2018: Frontiers in Psychiatry
Tariq Zaman, Ingo Helbig, Ivana Babić Božović, Suzanne D DeBrosse, A Christina Bergqvist, Kimberly Wallis, Livija Medne, Aleš Maver, Borut Peterlin, Katherine L Helbig, Xiaohong Zhang, Ethan M Goldberg
OBJECTIVE: Voltage-gated sodium (Na+ ) channels underlie action potential generation and propagation and hence are central to the regulation of excitability in the nervous system. Mutations in the genes SCN1A, SCN2A, and SCN8A, encoding the Na+ channel pore-forming (α) subunits Nav1.1, 1.2, and 1.6, respectively, and SCN1B, encoding the accessory subunit β1 , are established causes of genetic epilepsies. SCN3A, encoding Nav1.3, is known to be highly expressed in brain, but has not previously been linked to early infantile epileptic encephalopathy...
February 21, 2018: Annals of Neurology
Marco Solmi, Giorgio Pigato, John M Kane, Christoph U Correll
BACKGROUND: Tardive dyskinesia (TD) is a severe condition that can affect almost 1 out of 4 patients on current or previous antipsychotic treatment, including both first-generation antipsychotics (FGAs) and second-generation antipsychotics (SGAs). While two novel vesicular monoamine transporter inhibitors, deutetrabenazine and valbenazine, have shown acute efficacy for TD, the majority of patients do not remit, and TD appears to recur once treatment is withdrawn. Hence, prevention of TD remains a crucial goal...
February 5, 2018: Journal of the Neurological Sciences
Theodora U J Bruun, Sarah Sidky, Anabela O Bandeira, Francoise-Guillaume Debray, Can Ficicioglu, Jennifer Goldstein, Kairit Joost, Dwight D Koeberl, Diogo Luísa, Marie-Cecile Nassogne, Siobhan O'Sullivan, Katrin Õunap, Andreas Schulze, Lionel van Maldergem, Gajja S Salomons, Saadet Mercimek-Andrews
To evaluate the outcome of current treatment for creatine transporter (CRTR) deficiency, we developed a clinical severity score and initiated an international treatment registry. An online questionnaire was completed by physicians following patients with CRTR deficiency on a treatment, including creatine and/or arginine, and/or glycine. Clinical severity score included 1) global developmental delay/intellectual disability; 2) seizures; 3) behavioural disorder. Phenotype scored 1-3 = mild; 4-6 = moderate; and 7-9 = severe...
February 12, 2018: Metabolic Brain Disease
Angélique Quartier, Laure Chatrousse, Claire Redin, Céline Keime, Nicolas Haumesser, Anne Maglott-Roth, Laurent Brino, Stéphanie Le Gras, Alexandra Benchoua, Jean-Louis Mandel, Amélie Piton
BACKGROUND: Prenatal exposure to androgens during brain development in male individuals may participate to increase their susceptibility to develop neurodevelopmental disorders such as autism spectrum disorder (ASD) and intellectual disability. However, little is known about the action of androgens in human neural cells. METHODS: We used human neural stem cells differentiated from embryonic stem cells to investigate targets of androgens. RESULTS: RNA sequencing revealed that treatment with dihydrotestosterone (DHT) leads to subtle but significant changes in the expression of about 200 genes, encoding proteins of extracellular matrix or involved in signal transduction of growth factors (e...
January 9, 2018: Biological Psychiatry
Rachna Seth, Amitabh Singh, Vijay Guru, Bhavna Chawla, Sushmita Pathy, Savita Sapra
Background: Retinoblastoma (Rb) is the most common primary intraocular tumor of infancy and childhood. Survivors' ocular and visual problems and increased risk for subsequent malignancy are well documented, but data on long-term health status of Rb survivors are limited, this being particularly true for India. Methodology: Children who had completed treatment for Rb at least 2 years ago before and were under follow-up at the after cancer treatment clinic were evaluated...
October 2017: South Asian Journal of Cancer
Monica Weldon, Murat Kilinc, J Lloyd Holder, Gavin Rumbaugh
BACKGROUND: Pathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently discovered, pathogenicity of this gene is a relatively frequent genetic cause of classically undefined developmental delay that progresses to ID with commonly occurring comorbidities. MAIN BODY: A meeting of 150 people was held that included affected individuals and their caregivers, clinicians that treat this and related brain disorders, neuroscientists that study SYNGAP1 biology or the function of related genes, and representatives from government agencies that fund science and approve new medical treatments...
February 5, 2018: Journal of Neurodevelopmental Disorders
C Mac Giolla Phadraig, C Griffiths, P McCallion, M McCarron, E Donnelly-Swift, J Nunn
OBJECTIVE: To report frequency and predictors of reported pharmacological behaviour support use among older adults with intellectual disabilities (ID) accessing dental care in Ireland. METHODS: Data from a nationally representative cross-sectional survey of adults with ID over 40 years of age allowed identification of the reported frequency of pharmacological behaviour support use. Predictors of pharmacological support were identified using multiple logistic regression...
February 5, 2018: Community Dentistry and Oral Epidemiology
Ariane Camoin, Lionel Dany, Corinne Tardieu, Michel Ruquet, Pierre Le Coz
BACKGROUND: The provision of dental care for children with intellectual disability raises many ethical questions. OBJECTIVE: The aim of this qualitative study was to explore approaches to dental treatment in an anxious child with intellectual disability and the ethical dilemmas that ensue. METHODS: Semi-structured interviews were conducted between February and May 2012. A clinical scenario was used to establish a starting point for a discussion of the clinical approach and lead to an ethical reflection...
January 29, 2018: Disability and Health Journal
Min Liu, Marie Fitzgibbon, Yanqin Wang, Jamie Reilly, Xiaohong Qian, Timothy O'Brien, Steve Clapcote, Sanbing Shen, Michelle Roche
Excitation/inhibition imbalance has been proposed as a fundamental mechanism in the pathogenesis of neuropsychiatric and neurodevelopmental disorders, in which copy number variations of the Unc-51 like kinase 4 (ULK4) gene encoding a putative Serine/Threonine kinase have been reported in approximately 1/1000 of patients suffering pleiotropic clinical conditions of schizophrenia, depression, autistic spectrum disorder (ASD), developmental delay, language delay, intellectual disability, or behavioral disorder...
February 2, 2018: Translational Psychiatry
E Salakos, D Korb, C Morin, O Sibony
Trichomonas vaginalis is a very common, sexually transmitted, infection that may sometimes be asymptomatic or cause vaginitis and urethritis. Recently, it has been associated with adverse obstetric outcomes such as preterm delivery, low birth weight and premature rupture of membranes. Trichomonas vaginalis can be vertically transmitted at birth. It has been found in pharynx and low respiratory tract of neonates with respiratory disease. It has also been involved in some cases of intellectual disability. The recommended treatment is a 2g metronidazole oral single dose, even for asymptomatic patients...
January 29, 2018: Journal of Gynecology Obstetrics and Human Reproduction
Iain McKinnon, Thomas Lewis, Naomi Mehta, Shahed Imrit, Julie Thorp, Chris Ince
Aims and method To assess the benefits of the introduction of routine vitamin D serum sampling for all patients admitted to a secure in-patient hospital in the North of England providing medium security, low security and rehabilitation services for offenders with intellectual and developmental disability. The vitamin D levels of 100 patients were analysed at baseline. Those with insufficient or deficient levels were offered treatment and retested after 1 year. Vitamin D levels were analysed in the context of level of security, seasonality of test and co-prescription of psychotropic medications...
February 2018: BJPsych Bulletin
Alok Sharma, Hemangi Sane, Nandini Gokulchandran, Suhasini Pai, Pooja Kulkarni, Vaishali Ganwir, Maitree Maheshwari, Ridhima Sharma, Meenakshi Raichur, Samson Nivins, Prerna Badhe
BACKGROUND: The underlying pathophysiology in intellectual disability (ID) involves abnormalities in dendritic branching and connectivity of the neuronal network. This limits the ability of the brain to process information. Conceptually, cellular therapy through its neurorestorative and neuroregenerative properties can counteract these pathogenetic mechanisms and improve neuronal connectivity. This improved networking should exhibit as clinical efficacy in patients with ID. METHODS: To assess the safety and efficacy of cellular therapy in patients with ID, we conducted an open-label proof-of-concept study from October 2011 to December 2015...
January 31, 2018: Stem Cell Research & Therapy
Monika Słowińska, Sergiusz Jóźwiak, Angela Peron, Julita Borkowska, Dariusz Chmielewski, Krzysztof Sadowski, Elżbieta Jurkiewicz, Aglaia Vignoli, Francesca La Briola, Maria Paola Canevini, Katarzyna Kotulska-Jóźwiak
BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated with the development of benign tumors in several organs. It is also characterized by high rates of neurological and neuropsychiatric abnormalities, including epilepsy affecting 70-90% of patients and being one of the major risk factors of intellectual disability. The first seizures in TSC patients appear usually between the 4th and the 6th months of life. Recent studies have shown the beneficial role of preventative antiepileptic treatment in TSC patients, with the possibility for improvement of cognitive outcome...
January 29, 2018: Orphanet Journal of Rare Diseases
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