Results 91 to 100 of about 92,072 (315)

An epidemiological study on anemia among institutionalized people with intellectual and/or motor disability with special reference to its frequency, severity and predictors

BMC Public Health, 2006
Background To examine the type, frequency, severity, and predictors of anemia and its relationship with co-morbid conditions among institutionalized people with intellectual and/or motor disability.
Tomono Yuji, Nara Nobuo, Nakayama Takeo, Ohwada Hiroko, Yamanaka Keiko   +4 more
doaj   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

West syndrome in three patients with brain injury and a benign course

Epilepsy and Behavior Case Reports, 2017
Infants with West Syndrome and underlying structural pathology typically experience persistent symptomatic focal seizures and intellectual disability. We performed a retrospective case review of 84 patients with West Syndrome evaluated at one institution
Angelo Russo, Michael Duchowny, Antonella Boni, Melania Giannotta, Melissa Filippini, Giuseppe Gobbi   +5 more
doaj   +1 more source

Participant opinions of randomised controlled trials within intellectual disability services

, 2010
OBJECTIVE: This study examined participants’ opinions and beliefs about Randomised Controlled Trials (RCTs) in an intellectual disability context. BACKGROUND: RCTs in this field require co-operation from various stakeholders, including carers and
Robotham, D.J.
core  

A rare cause of intellectual disability

A seven-year-old female was followed in a developmental clinic from the age of nine months due to delayed psychomotor development. The first physical examination showed a newborn with irritability and a large anterior fontanelle.
Oliveira, Íris, Fernandes, Andreia, Rodrigues, Márcia, Mendonça, Carla, Silva, Noémia, Pereira, Mafalda   +5 more
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Advances in understanding – genetic basis of intellectual disability [version 1; referees: 2 approved]

F1000Research, 2016
Intellectual disability is the most common developmental disorder characterized by a congenital limitation in intellectual functioning and adaptive behavior.
Pietro Chiurazzi, Filomena Pirozzi
doaj   +1 more source

The prevalence of posttraumatic stress disorder in a sample of people living with intellectual disability that have been raped or sexually assaulted

, 2009
Includes bibliographical references (leaves 52-57).The phenomena of post-traumatic stress disorder (PTSD) in people living with intellectual disability that had been raped or sexually assaulted have not previously been researched in the South African ...
Jasson, Aimée E
core  

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Detection of ictal apnea refines the clinical spectrum of ATRX syndrome

Epilepsy & Behavior Reports
Alpha-thalassemia X-linked intellectual disability syndrome (ATRX) is a rare genetic disorder caused by mutations in the ATRX gene. It is characterized by distinct dysmorphic features, alpha thalassemia, varying degrees of intellectual disability, and ...
Galal Banat, Friedrich G. Woermann, Rami Abou Jamra, Christian G. Bien, Christian Brandt   +4 more
doaj   +1 more source