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Cognitive Disability

Nataliya Di Donato, Ying Y Jean, A Murat Maga, Briana D Krewson, Alison B Shupp, Maria I Avrutsky, Achira Roy, Sarah Collins, Carissa Olds, Rebecca A Willert, Agnieszka M Czaja, Rachel Johnson, Jessi A Stover, Steven Gottlieb, Deborah Bartholdi, Anita Rauch, Amy Goldstein, Victoria Boyd-Kyle, Kimberly A Aldinger, Ghayda M Mirzaa, Anke Nissen, Karlla W Brigatti, Erik G Puffenberger, Kathleen J Millen, Kevin A Strauss, William B Dobyns, Carol M Troy, Robert N Jinks
Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disability, and seizures. Trio-based whole-exome sequencing and targeted re-sequencing identified recessive mutations of CRADD in six individuals with TLIS from four unrelated families of diverse ethnic backgrounds. CRADD (also known as RAIDD) is a death-domain-containing adaptor protein that oligomerizes with PIDD and caspase-2 to initiate apoptosis...
October 18, 2016: American Journal of Human Genetics
Matthew Swan, Nancy Doan, Robert A Ortega, Matthew Barrett, William Nichols, Laurie Ozelius, Jeannie Soto-Valencia, Sarah Boschung, Andres Deik, Harini Sarva, Jose Cabassa, Brooke Johannes, Deborah Raymond, Karen Marder, Nir Giladi, Joan Miravite, William Severt, Rivka Sachdev, Vicki Shanker, Susan Bressman, Rachel Saunders-Pullman
Mutations in GBA1 are a well-established risk factor for Parkinson disease (PD). GBA-associated PD (GBA-PD) may have a higher burden of nonmotor symptoms than idiopathic PD (IPD). We sought to characterize the relationship between GBA-PD and neuropsychiatric symptoms. Subjects were screened for common GBA1 mutations. GBA-PD (n=31) and non-carrier (IPD; n=55) scores were compared on the Unified Parkinson Disease Rating Scale (UPDRS), Montreal Cognitive Assessment (MoCA), Beck Depression Inventory (BDI), and the State-Trait Anxiety Index (STAI)...
November 15, 2016: Journal of the Neurological Sciences
Amanda Reichard, Michelle Stransky, Kimberly Phillips, Monica McClain, Charles Drum
BACKGROUND: While it is commonly accepted that disparities in unmet need for care vary by age, race/ethnicity, income, education, and access to care, literature documenting unmet needs experienced by adults with different types of disabilities is developing. OBJECTIVE: The main objective was to determine whether subgroups of people with disabilities are more likely than people without disabilities to delay/forgo necessary care, in general and among the insured. METHODS: We used pooled Medical Expenditure Panel Survey data (2004-2010) to examine delaying or forgoing medical, dental, and pharmacy care among five disability subgroups (physical, cognitive, visual, hearing, multiple) and the non-disabled population...
September 13, 2016: Disability and Health Journal
S Micheletti, F Palestra, P Martelli, P Accorsi, J Galli, L Giordano, V Trebeschi, E Fazzi
BACKGROUND: Angelman Syndrome (AS) is a rare neurodevelopment disorder resulting from deficient expression or function of the maternally inherited allele of UBE3A gene. The aim of the study is to attempt at providing a detailed definition of neurodevelopmental profile in AS, with particular regard to motor, cognitive, communicative, behavioural and neurovisual, features by using standardized instruments. METHOD: A total of ten subjects aged from 5 to 11 years (4 males and 6 females) with molecular confirmed diagnosis of AS (7 15q11...
October 21, 2016: Italian Journal of Pediatrics
Jürgen Keller, Martin Gorges, Helena E A Aho-Özhan, Ingo Uttner, Erich Schneider, Jan Kassubek, Elmar H Pinkhardt, Albert C Ludolph, Dorothée Lulé
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder with pathological involvement of upper and lower motoneurons, subsequently leading to progressive loss of motor and speech abilities. In addition, cognitive functions are impaired in a subset of patients. To evaluate these potential deficits in severely physically impaired ALS patients, eye-tracking is a promising means to conduct cognitive tests. The present article focuses on how eye movements, an indirect means of communication for physically disabled patients, can be utilized to allow for detailed neuropsychological assessment...
October 13, 2016: Journal of Visualized Experiments: JoVE
Julia Vakhrusheva, Brielle Marino, T Scott Stroup, David Kimhy
Schizophrenia is characterized by extensive neurocognitive deficits, which are linked to greater disability, poorer functional outcome, and have been suggested to impact daily functioning more than clinical symptoms. Aerobic exercise (AE) has emerged as a potential intervention. This review examines the impact of AE on brain structure and function along with neurocognitive performance in individuals with schizophrenia. Preliminary evidence indicates that AE can increase hippocampal volume and cortical thickness, in addition to exerting a neuroprotective effect against hippocampal volume decrease and cortical thinning...
June 2016: Current Behavioral Neuroscience Reports
Eric Smart, Adeeta Aulakh, Carolyn McDougall, Patty Rigby, Gillian King
PURPOSE: Identify strategies youth perceive will optimize their engagement in goal pursuit in life skills and transition programs using an engagement framework involving affective, cognitive, and behavioral components. METHODS: A qualitative descriptive design was used. Two semi-structured interviews were conducted with seven youth. The first was informed by a prior observation session, and the second occurred after the program ended and explored youths' perceptions of whether and how their engagement changed...
October 21, 2016: Disability and Rehabilitation
Kaori Tamura, Takaaki Mizuba, Tsuyoshi Okamoto, Mayumi Matsufuji, Sachio Takashima, Keiji Iramina
INTRODUCTION: The level of residual cognitive function in patients with early brain injury is a key factor limiting rehabilitation and the quality of life. Although understanding residual function is necessary for appropriate rehabilitation, the extent of its effects on cognitive improvement remains unknown. The present study evaluated cognitive function in patients with severe motor and intellectual disabilities after early brain injuries due to cerebral hemorrhage (CH) or periventricular leukomalacia (PVL)...
October 18, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
Mingxiong Huang, Deborah L Harrington, Ashley Robb, Annemarie Angeles, Sharon Nichols, Angela I Drake, Tao Song, Mithun Diwakar, Charles W Huang, Victoria Risbrough, Anders M Dale, Hauke Bartsch, Scott Matthews, Jeffrey W Huang, Roland R Lee, Dewleen G Baker
Blast mild traumatic brain injury (mTBI) is a leading cause of sustained impairment in military service members and Veterans. However, the mechanism of persistent disability is not fully understood. The present study investigated disturbances in brain functioning in mTBI participants using a source-imaging-based approach to analyze functional connectivity (FC) from resting-state magnetoencephalography (rs-MEG). Study participants included 26 active-duty service members or Veterans who had blast mTBI with persistent post-concussive symptoms and 22 healthy control active-duty service members or Veterans...
October 20, 2016: Journal of Neurotrauma
Sally Lindsay, Kara Grace Hounsell
PURPOSE: Youth with disabilities are under-represented in science, technology, engineering, and math (STEM) in school and in the workforce. One encouraging approach to engage youth's interest in STEM is through robotics; however, such programs are mostly for typically developing youth. The purpose of this study was to understand the development and implementation of an adapted robotics program for children and youth with disabilities and their experiences within it. METHOD: Our mixed methods pilot study (pre- and post-workshop surveys, observations, and interviews) involved 41 participants including: 18 youth (aged 6-13), 12 parents and 11 key informants...
October 20, 2016: Disability and Rehabilitation. Assistive Technology
Laura Whitton, Donna Cosgrove, Christopher Clarkson, Denise Harold, Kimberley Kendall, Alex Richards, Kiran Mantripragada, Michael J Owen, Michael C O'Donovan, James Walters, Annette Hartmann, Betina Konte, Dan Rujescu, Michael Gill, Aiden Corvin, Stephen Rea, Gary Donohoe, Derek W Morris
Epigenetic mechanisms are an important heritable and dynamic means of regulating various genomic functions, including gene expression, to orchestrate brain development, adult neurogenesis, and synaptic plasticity. These processes when perturbed are thought to contribute to schizophrenia pathophysiology. A core feature of schizophrenia is cognitive dysfunction. For genetic disorders where cognitive impairment is more severe such as intellectual disability, there are a disproportionally high number of genes involved in the epigenetic regulation of gene transcription...
October 20, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Isabelle Biseul, Romain Icick, Perrine Seguin, Frank Bellivier, Jan Scott
OBJECTIVES: We investigated the feasibility and acceptability of an integrated group therapy (called HABIT) for comorbid bipolar disorder (BD) and alcohol and substance use disorders (ASUD) (BD-ASUD), a disabling clinical presentation for which no specific treatment has been validated. The 14-session HABIT programme employs psychoeducation-oriented cognitive-behaviour therapy (CBT) followed by mindfulness-based relapse prevention (MBRP) therapy. METHOD: Potential group participants were recruited from adult clients with a DSM-IV diagnosis of BD and an ASUD who were referred by their treating clinician...
October 20, 2016: Clinical Psychology & Psychotherapy
Chiara Concetta Incerti, Ornella Argento, Giuseppe Magistrale, Elisabetta Ferraro, Carlo Caltagirone, Valerio Pisani, Ugo Nocentini
Multiple sclerosis (MS) and working status have recently arisen great interest. Fatigue, physical disability, cognition, and psychological disturbances have been linked to unemployment, as well to accidents during daily activities. The aim of our study was to determine frequency of different types of accidents at workplace (AWE) and possible clinical differences among employed (MSe) and unemployed (MSu) MS patients. Sixty MS patients (31 employed, 29 unemployed) and twenty healthy control subjects were recruited...
October 19, 2016: Neurological Sciences
Brian D Gonzalez, Sharon L Manne, Jerod Stapleton, Shannon Myers-Virtue, Melissa Ozga, David Kissane, Carolyn Heckman, Mark Morgan
PURPOSE: The course of quality of life after diagnosis of gynecologic cancer is not well understood. We aimed to identify subgroups of gynecologic cancer patients with distinct trajectories of quality of life outcomes in the 18-month period after diagnosis. We also aimed to determine whether these subgroups could be distinguished by predictors derived from Social-Cognitive Processing Theory. METHODS: Gynecologic cancer patients randomized to usual care as part of a psychological intervention trial (NCT01951807) reported on depressed mood, quality of life, and physical impairment soon after diagnosis and at five additional assessments ending 18 months after baseline...
October 19, 2016: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
Cinzia Nasuti, Gloria Brunori, Piera Eusepi, Lisa Marinelli, Roberto Ciccocioppo, Rosita Gabbianelli
INTRODUCTION: Oxidative stress, alpha-synuclein changes, mitochondrial complex I defects and dopamine loss, observed in the striatum of rats exposed to the pesticide permethrin in early life, could represent neuropathological hallmarks of Parkinson's disease (PD). Nevertheless, an animal model of PD should also fulfill criteria of face and predictive validities. This study was designed to: 1) verify dopaminergic status in the striatum and substantia nigra pars compacta; 2) recognize non-motor symptoms; 3) investigate the time-course development of motor disabilities; 4) assess L-Dopa effectiveness on motor symptoms in rats previously exposed to permethrin in early life...
October 15, 2016: Journal of Pharmacological and Toxicological Methods
Chiara Zucchella, Michelangelo Bartolo, Sara Bernini, Marta Picascia, Paola Malinverni, Elena Sinforiani
INTRODUCTION: The relationship between cognitive and functional impairment in Alzheimer's Disease (AD) at the earliest stages of the disease is not well characterized. This study aimed at investigating such relationships along AD evolution by means of the Disability Assessment for Dementia (DAD). METHODS: Consecutive pairs of AD outpatients and their primary informal caregivers were enrolled. Patients were evaluated by means of the Mini Mental State Examination and neuropsychological tests...
October 17, 2016: Alzheimer Disease and Associated Disorders
Hamidreza Khodadadi, Luis J Azcona, Vajiheh Aghamollaii, Mir Davood Omrani, Masoud Garshasbi, Shaghayegh Taghavi, Abbas Tafakhori, Gholam Ali Shahidi, Javad Jamshidi, Hossein Darvish, Coro Paisán-Ruiz
INTRODUCTION: Atypical parkinsonism is a neurodegenerative disease that includes diverse neurological and psychiatric manifestations. OBJECTIVES: We aimed to identify the disease-cauisng mutations in a consanguineous family featuring intellectual disability and parkinsonism. METHODS: Full phenotypic characterization, followed by genome-wide single-nucleotide polymorphism genotyping and whole-genome sequencing, was carried out in all available family members...
October 18, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
H-J Kim, S-I Oh, M de Leon, X Wang, K-W Oh, J-S Park, A Deshpande, M Buj, S H Kim
BACKGROUND AND PURPOSE: Amyotrophic lateral sclerosis (ALS), a motor neuron disease, is associated with various cortical symptoms including mild cognitive decline with behavior changes, suggesting the involvement of extra-motor areas in ALS. Our aim was to investigate the specific patterns of brain atrophy in sporadic, impaired ALS patients without commonly known genetic mutations using voxel-based morphometry. MATERIALS AND METHODS: Forty-seven patients with sporadic ALS and 28 age-matched healthy controls were recruited...
October 18, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Jordan Elliott-King, Sarah Shaw, Stephan Bandelow, Rajal Devshi, Shelina Kassam, Eef Hogervorst
INTRODUCTION: Currently, there is no consensus on dementia diagnostics in adults with intellectual disabilities (ID). There are three types of assessments available: direct cognitive tests, test batteries, and informant reports. METHODS: A systematic literature search was conducted in four databases yielding 9840 records. Relevant studies were identified and selected using predefined inclusion and exclusion criteria and then coded and classified according to assessment type...
2016: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
Ligia J Dominguez, Mario Barbagallo
PURPOSE OF REVIEW: Physical and cognitive frailty are interrelated and synergistic syndromes more frequently seen in old age, which represent intermediate stages between aging successfully and disability. Poor nutrition is a fundamental determinant for both conditions, while various dietary components are proposed to prevent and/or improve them. This updated review discusses the possible influence of nutritional factors on cognitive frailty and its potential mediators. RECENT FINDINGS: Oxidative stress, low-grade systemic inflammation, neuroinflammation, and altered autophagy, all associated with obesity, metabolic syndrome and insulin resistance, are proposed mechanisms to explain the influence of nutrition on cognitive health...
September 28, 2016: Current Opinion in Clinical Nutrition and Metabolic Care
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