Results 171 to 180 of about 501,307 (362)

Knowledge, attitudes and practices of psychiatrists in India regarding sudden unexpected death in epilepsy (SUDEP) and seizure-related harm

Epilepsy & Behavior Reports
Sudden unexpected death in Epilepsy (SUDEP) is one of the leading causes of death in people with epilepsy (PWE). Awareness and taking adequate preventive measures are pivotal to reducing SUDEP.
Surobhi Chatterjee, Shivangini Singh, Sujita Kumar Kar, Rohit Shankar   +3 more
doaj  

Desirable Conversations: Sexuality and Women with Intellectual Disabilities

, 2000
Neera Malhotra
openalex   +2 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chromosomal aberrations, particularly copy‐number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy‐number gains (CN gains) in 15q11‐q13, primarily consisting of a pseudo (iso‐)dicentric chromosome 15 [(i)dic(15)] or an interstitial duplication, are among the most ...
Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel   +5 more
wiley   +1 more source

Relation of Muscle Tone Hypertension to Respiratory Sinus Arrhythmia in Persons with Severe Intellectual and Physical Disabilities

, 2000
Ayumi KAMIMURA, Miyoshi Kumoi, Toshihide KOIKE   +2 more
openalex   +2 more sources

Attitudes of Senior Psychiatry Residents toward Persons with Intellectual Disabilities [PDF]

, 2003
Hélène Ouellette‐Kuntz, Philip Burge, David B. Henry, Elspeth Bradley, Pierre Leichner   +4 more
openalex   +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite
Zantasha Khalid, Matthew Adams, Anees Muhammad, Raeesa Tehreen, Arfa Azeem, Asif Ahmed, Nishanka Ubeyratna, Claire G. Salter, Joseph S. Leslie, Nikol Voutsina, Emma L. Baple, Andrew H. Crosby, Sabika Firasat, Muhammad Tahir Sarwar, Shamim Saleha, Asma Gul, Lettie E. Rawlins   +16 more
wiley   +1 more source

Clinical guidelines for the management of epilepsy in adults with an intellectual disability

, 2001

openalex   +1 more source

Elderly Persons with Intellectual Disability: A Study of Clinical Characteristics, Functional Status, and Sensory Capacity [PDF]

, 2003
Eli Carmeli, Joav Merrick, Shlomo Kessel, Yossef Masharawi, Varda Carmeli   +4 more
openalex   +1 more source