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https://www.readbyqxmd.com/read/29775848/long-term-outcome-in-children-with-neonatal-seizures-a-tertiary-center-experience-in-cohort-of-168-patients
#1
Biljana Vucetic Tadic, Ruzica Kravljanac, Vlada Sretenovic, Vladislav Vukomanovic
PURPOSE: The purpose of this study was to evaluate long-term outcome and assess predictors of prognosis in children with neonatal seizures (NS). METHOD: This retrospective study includes children with NS treated at our Institute from January the 1st 2005 until December the 31st 2015. The data were collected from medical charts and the electroencephalogram (EEG) database at the Institute. The predictive value was evaluated for following parameters: (1) characteristics of the patients, such as gender, gestational age, birth body weight, Apgar score, artificial ventilation; (2) etiology; (3) characteristics of seizures such as type, time of onset, resistance to treatment; and (4) EEG background activity and paroxysmal discharges...
May 15, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29766482/-fragile-x-syndrome-new-therapeutic-strategies
#2
S Zeidler, B Dierckx, K Lubbers, A M van Eeghen, C R Lincke, J A Kievit, R Willemsen, A Rietman
Fragile X syndrome (fxs) is the most common hereditary cause of intellectual disability and autism spectrum disorders. Targeted treatment is currently lacking. In the past decades an enormous amount of knowledge has been obtained concerning the involved molecular pathways, introducing potential targets for disease modifying therapy.<br/> AIM: To present an overview of the development of targeted treatment for fxs.<br/> METHOD: Several important publications were collected and indexed.<br/> RESULTS: While preclinical animal model studies with targeted interventions are promising, the translation to the clinic has been disappointing...
2018: Tijdschrift Voor Psychiatrie
https://www.readbyqxmd.com/read/29758347/gene-analysis-a-rare-gene-disease-of-intellectual-deficiency-cohen-syndrome
#3
Chengqing Yang, Mei Hou, Yutang Li, Dianrong Sun, Ya Guo, Peipei Liu, Yedan Liu, Jie Song, Na Zhang, Wei Wei, Zongbo Chen
Cohen syndrome is a rare, genetic, connective-tissue disorder, which is caused by mutations in the gene COH1 (VPS13B, Vacuolar Protein Sorting 13 Homolog B) at the chromosome 8q22. The disease is rare reported, which major clinical features include postnatal microcephaly, obesity, short stature, intellectual disability, progressive retinal dystrophy, intermittent neutropenia and many other unusual facial feature. We report four patients in China who were diagnosed with Cohen syndrome by genetic testing and clinical manifestations...
May 11, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29756478/outcome-of-serious-violent-offenders-with-psychotic-illness-and-cognitive-disorder-dealt-with-by-the-new-south-wales-criminal-justice-system
#4
Olav Nielssen, Natalia Yl Yee, Kimberlie Dean, Matthew Large
BACKGROUND: The few studies of the recidivism by people with psychotic illness and cognitive disorder who are convicted of serious violent offences and sentenced by the courts. METHOD: Re-imprisonment data were obtained for 661 individuals convicted of serious non-lethal violent offences in the District Courts of New South Wales in the years 2006 and 2007. Rates of re-imprisonment of offenders known to psychotic illness or cognitive disorder (intellectual disability or acquired brain injury) was compared to those not known to have those conditions...
May 1, 2018: Australian and New Zealand Journal of Psychiatry
https://www.readbyqxmd.com/read/29750647/the-etiologies-and-incidences-of-congenital-hypothyroidism-before-and-after-neonatal-tsh-screening-program-implementation-a-study-in-southern-thailand
#5
Somchit Jaruratanasirikul, Jutarat Piriyaphan, Tansit Saengkaew, Waricha Janjindamai, Hutcha Sriplung
BACKGROUND: Congenital hypothyroidism (CH) is one of the common causes of intellectual disability which can be prevented by early detection of an elevated thyroid stimulating hormone (TSH) level in the newborn and by treatment with thyroxine. In Thailand, neonatal TSH screening was implemented nationwide in 2005. The objective of the study was to determine the etiologies and the estimated incidences of CH in southern Thailand before and after the implementation of a neonatal TSH screening program in 2005...
May 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29748952/disentangling-tourette-syndrome-heterogeneity-through-hierarchical-ascendant-clustering
#6
Elena Cravedi, Emmanuelle Deniau, Marianna Giannitelli, Hugues Pellerin, Virginie Czernecki, Tiphanie Priou, Jean Xavier, Angèle Consoli, Andreas Hartmann, David Cohen
AIM: To explore the heterogeneity of Tourette syndrome as part of a neurodevelopmental spectrum. METHOD: Using hierarchical ascendant clustering based on tic symptoms, developmental milestones, and neurodevelopmental comorbidities, we analyzed the heterogeneity of Tourette syndrome phenotypes in a sample of 174 children and adolescents with Tourette syndrome referred to a tertiary university clinic. RESULTS: The model yielded three distinct clusters characterized as follows...
May 10, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29730963/screening-for-intellectual-disabilities-a-validation-of-the-hayes-ability-screening-index-for-in-patients-with-substance-use-disorder
#7
Kirsten J Braatveit, Torbjørn Torsheim, Oddbjørn Hove
BACKGROUND: There is a reason to believe that many individuals with substance use disorder (SUD) in contact with services have an undiagnosed intellectual disability (ID). Assessing ID in persons with SUD can be challenging due to the influence of substances, time consumption, and specific requirements for the education of the assessor. On the other hand, an undiagnosed condition may lead to a lack of treatment adjustment and may result in drop-out from treatment or lack of treatment effect...
May 7, 2018: Nordic Journal of Psychiatry
https://www.readbyqxmd.com/read/29722015/east-sesame-syndrome-review-of-the-literature-and-introduction-of-four-new-latvian-patients
#8
REVIEW
C Marta, M Ieva, I Inna, A Mareta, K Sandra, J Pereca, S Janis, P Dita, S Jurgis
EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. It is caused by mutations in KCNJ10, which encodes Kir4.1, an inwardly rectifying K+ channel found in the brain, inner ear, kidney and eye. To date, 16 mutations in at least 28 patients have been reported. In this paper, we review mutations causing EAST/SeSAME syndrome, clinical manifestations in detail, and efficacy of treatment in previously reported patients...
May 3, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29713294/characteristics-and-pathways-of-long-stay-patients-in-high-and-medium-secure-settings-in-england-a-secondary-publication-from-a-large-mixed-methods-study
#9
Birgit A Völlm, Rachel Edworthy, Nick Huband, Emily Talbot, Shazmin Majid, Jessica Holley, Vivek Furtado, Tim Weaver, Ruth McDonald, Conor Duggan
Background: Many patients experience extended stays within forensic care, but the characteristics of long-stay patients are poorly understood. Aims: To describe the characteristics of long-stay patients in high and medium secure settings in England. Method: Detailed file reviews provided clinical, offending and risk data for a large representative sample of 401 forensic patients from 2 of the 3 high secure settings and from 23 of the 57 medium secure settings in England on 1 April 2013. The threshold for long-stay status was defined as 5 years in medium secure care or 10 years in high secure care, or 15 years in a combination of high and medium secure settings...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29704597/modelling-fragile-x-syndrome-in-the-laboratory-setting-a-behavioral-perspective
#10
REVIEW
Francesca Melancia, Viviana Trezza
Fragile X syndrome is the most common form of inherited mental retardation and the most frequent monogenic cause of syndromic autism spectrum disorders. The syndrome is caused by the loss of the Fragile X Mental Retardation Protein (FMRP), a key RNA-binding protein involved in synaptic plasticity and neuronal morphology. Patients show intellectual disability, social deficits, repetitive behaviors and impairments in social communication. The aim of this review is to outline the importance of behavioral phenotyping of animal models of FXS from a developmental perspective, by showing how the behavioral characteristics of FXS at the clinical level can be translated into effective, developmentally-specific and clinically meaningful behavioral readouts in the laboratory setting...
April 25, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29685560/high-rates-of-psychiatric-disorders-and-below-normal-mental-capacity-associated-with-spastic-peroneal-flatfoot-a-new-relationship
#11
Önder İsmet Kılıçoğlu, Ahmet Salduz, Fevzi Birişik, Fuat Bilgili, Gökhan Polat, İlyas Kaya, Funda Süleyman, Murat Coşkun
Spastic peroneal flatfoot (SPFF) is a rare hindfoot pathology usually seen in the adolescent age group that is characterized by painful spasms in the peroneal muscles. We have clinically observed that patients with SPFF also have some behavioral and emotional difficulties and problems in their academic achievements. Because of these observations, we investigated the prevalence and patterns of psychiatric disorders and intellectual disability among young subjects with SPFF. Our cohort consisted of 16 patients with SPFF...
May 2018: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29677576/early-mortality-in-scn8a-related-epilepsies
#12
Katrine M Johannesen, Elena Gardella, Ingrid Scheffer, Katherine Howell, Douglas M Smith, Ingo Helbig, Rikke S Møller, Guido Rubboli
SCN8A-related epilepsies are often severe developmental and epileptic encephalopathies. Seizures can be treatment resistant, and patients suffer from severe intellectual disability. Reports have suggested that SCN8A-related epilepsies have a high mortality with SUDEP as the major underlying cause. SUDEP is a catastrophic event, and the risk of occurrence should be correctly and carefully discussed with patients and families. We tested the hypothesis of SUDEP as the main cause of death in SCN8A-related epilepsies by reviewing all the currently reported patients with SCN8A...
July 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29671046/digeorge-syndrome-relevance-of-psychiatric-symptoms-in-undiagnosed-adult-patients
#13
Christoph Kraus, Thomas Vanicek, Ana Weidenauer, Tav Khanaqa, Mara Stamenkovic, Rupert Lanzenberger, Matthäus Willeit, Siegfried Kasper
DiGeorge syndrome or 22q11.2 deletion syndrome is one of the most common genetic microdeletion syndromes in humans. In addition to physical manifestations, DiGeorge syndrome is associated with a high prevalence of psychiatric disorders, such as intellectual disability, schizophrenia and attention-deficit/hyperactivity disorder. Usually, the diagnosis of DiGeorge syndrome is made in early childhood. This article reports on the late diagnosis of a patient with panic disorder and comorbid major depression at the age of 51...
April 18, 2018: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/29665571/topiramate-induced-weight-loss-depends-on-level-of-intellectual-disability-in-patients-with-epilepsy
#14
Hirotaka Iwaki, Kazutaka Jin, Mayu Fujikawa, Nobukazu Nakasato, Sunao Kaneko
OBJECTIVE: Intellectual disability (ID) is associated with weight gain caused by antiepileptic drugs such as valproic acid. The present study analyzed the relationship between ID and weight loss caused by topiramate (TPM). METHODS: Seventy-eight patients with epilepsy (35 women, aged 18 to 70years) were enrolled in this prospective study. Body weight was measured before and 1, 6, 12, and 18months after initiation of TPM treatment. Both patients and caregivers were provided information about TPM-related weight loss...
April 13, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29659809/a-new-mouse-model-of-arx-dup24-recapitulates-the-patients-behavioural-and-fine-motor-alterations
#15
Aline Dubos, Hamid Meziane, Giovanni Iacono, Aurore Curie, Fabrice Riet, Christelle Martin, Nadège Loaëc, Marie-Christine Birling, Mohammed Selloum, Elisabeth Normand, Guillaume Pavlovic, Tania Sorg, Henk G Stunnenberg, Jamel Chelly, Yann Humeau, Gaëlle Friocourt, Yann Hérault
The Aristaless-related homeobox (ARX) transcription factor is involved in the development of GABAergic and cholinergic neurons in the forebrain. ARX mutations have been associated with a wide spectrum of neurodevelopmental disorders in humans, among which the most frequent, a 24bp duplication in the polyalanine tract 2 (c.428_451dup24), gives rise to intellectual disability, fine motor defects with or without epilepsy. To understand the functional consequences of this mutation, we generated a partially humanized mouse model carrying the c...
April 5, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29658982/behavioural-changes-in-patients-with-intellectual-disability-treated-with-brivaracetam
#16
E Andres, F Kerling, H Hamer, M Winterholler
OBJECTIVE: The purpose of this study was to evaluate the tolerability and efficacy of brivaracetam (BRV) in residential patients at our epilepsy centre. PATIENTS AND METHODS: We assessed retrospectively 33 patients (14 females; mean age 38.2 years, with range 17-63 years) with intellectual disability (ID) and drug-resistant epilepsy using an industry-independent, non-interventional study design based on standardized daily seizure records. Mean seizure frequency was compared between the 3-month baseline period and subsequent 3-month treatment period...
April 16, 2018: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29645068/-frequency-semiology-and-prognosis-of-benign-infantile-epilepsy
#17
J Ramos-Lizana, G Martinez-Espinosa, M I Rodriguez-Lucenilla, J Aguirre-Rodriguez, P Aguilera-Lopez
INTRODUCTION: Benign infantile epilepsy is an epileptic syndrome of infancy. Until now, only a small number of case-series have been published. AIM: To study the frequency, semiology and prognosis of benign infantile epilepsy. PATIENTS AND METHODS: The 827 patients with one or more epileptic seizures seen at our hospital between 1 June 1994 and 1 March 2011 were included and prospectively followed. A diagnosis of benign infantile epilepsy was made in patients that fulfilled the following criteria at six month of evolution: one or more focal and/or generalised seizures, onset before 24 months, no neurological deficit and normal neuroimaging and interictal EEG...
April 16, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29621152/taurine-administration-recovers-motor-and-learning-deficits-in-an-angelman-syndrome-mouse-model
#18
Sara Guzzetti, Luciano Calzari, Lucia Buccarello, Valentina Cesari, Ivan Toschi, Stefania Cattaldo, Alessandro Mauro, Francesca Pregnolato, Silvia Michela Mazzola, Silvia Russo
Angelman syndrome (AS, MIM 105830) is a rare neurodevelopmental disorder affecting 1:10-20,000 children. Patients show moderate to severe intellectual disability, ataxia and absence of speech. Studies on both post-mortem AS human brains and mouse models revealed dysfunctions in the extra synaptic gamma-aminobutyric acid (GABA) receptors implicated in the pathogenesis. Taurine is a free intracellular sulfur-containing amino acid, abundant in brain, considered an inhibiting neurotransmitter with neuroprotective properties...
April 5, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29604340/a-case-of-pitt-hopkins-syndrome-with-de-novo-mutation-in-tcf4-clinical-features-and-treatment-for-epilepsy
#19
Yedan Liu, Ya Guo, Peipei Liu, Fei Li, Chengqing Yang, Jie Song, Jingfei Hu, Dandan Xin, Zongbo Chen
Pitt-Hopkins syndrome (PTHS), belonging to the group of 18q-syndromes, is a rare genetic disorder caused by mutations in TCF4. PTHS is characterized by distinctive facial appearance, intermittent hyperventilation, intellectual disability and developmental delay. Although patients with PTHS generally have various systemic symptoms, most of themwith a TCF4 mutation manifest the central nervous system (CNS) disorders. We described the first Chinese case with Pitt-Hopkins syndrome based on clinical presentations and genetic findings...
March 28, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29603837/treatment-with-the-gsk3-beta-inhibitor-tideglusib-improves-hippocampal-development-and-memory-performance-in-juvenile-but-not-adult-cdkl5-knockout-mice
#20
Claudia Fuchs, Norma Fustini, Stefania Trazzi, Laura Gennaccaro, Roberto Rimondini, Elisabetta Ciani
Cyclin-dependent kinase-like 5 (CDKL5) disorder is a severe neurodevelopmental disorder characterized by early-onset epileptic seizures, severe developmental delay, and intellectual disability. To date, no effective pharmacological treatments are available to improve the neurological phenotype that is due to mutations in the CDKL5 gene. Murine models of CDKL5 disorder have recently been generated, making the preclinical testing of pharmacological interventions possible. Using a Cdkl5 knockout (KO) mouse model, we recently demonstrated that deficiency of Cdkl5 causes defects in postnatal hippocampal development and hippocampus-dependent learning and memory...
March 30, 2018: European Journal of Neuroscience
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