Results 171 to 180 of about 475,058 (385)

A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu, Kierstin Keller, Dong Li, Hope Thomas, Nora O'Connor, Abbas F. Jawad, Allison Thomas, Nina H. Thomas, Hakon Hakonarson, Leslie Castelo‐Soccio, Sarah E. Sheppard   +10 more
wiley   +1 more source

Chronic constipation in people with intellectual disabilities in the community: cross-sectional study

BJPsych Open
Background One-third to half of people with intellectual disabilities suffer from chronic constipation (defined as two or fewer bowel movements weekly or taking regular laxatives three or more times weekly), a cause of significant morbidity and ...
Richard Laugharne, Indermeet Sawhney, Bhathika Perera, Delia Wainwright, Paul Bassett, Briony Caffrey, Maire O'Dwyer, Kirsten Lamb, Mike Wilcock, Ashok Roy, Katy Oak, Sharon Eustice, Nick Newton, James Sterritt, Ruth Bishop, Rohit Shankar   +15 more
doaj   +1 more source

Sensory impairments, intellectual disability and psychiatry [PDF]

, 2001
Sue Carvill
openalex   +1 more source

TREATMENT OF MENTAL ILLNESS CO-OCCURRING WITH INTELLECTUAL DISABILITIES [PDF]

, 2016
Past literature has showed that there have been several misdiagnosis of mental illness due to client’s delays in speech or introspection caused by an intellectual disability.
Nevarez, Natalie
core  

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku, Aafke Engwerda, Tyler D. Medina, Morris A. Swertz, Lennart F. Johansson, Conny M. A. van Ravenswaaij‐Arts, Imke Christiaans   +6 more
wiley   +1 more source

Comorbidity Patterns and Temporal Associations of Multiple Long-Term Conditions in Adults with Intellectual Disability: an observational study in the United Kingdom [PDF]

arXiv
Objectives: To examine the distribution, temporal associations, and age/sex-specific patterns of multiple long-term conditions (MLTCs) in adults with intellectual disability (ID). Study Design: Observational study using longitudinal healthcare data.
arxiv  

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, Francesca Del Vecchio Blanco, Mariateresa Zanobio, Margherita Scarpato, Margherita Russo, Maria Elena Onore, Giulio Piluso, TUDP Study Group, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Manuela Morleo, Nicola Brunetti Pierri, Giancarlo Parenti, Carmine Spampanato, Giulio Piluso, Michele Pinelli, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Domizia Pasquetti, Federica L. Erario, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Vincenzo Nigro, Gioacchino Scarano, Annalaura Torella   +52 more
wiley   +1 more source

Exploring the relationships between costs and quality of services for adults with severe intellectual disabilities and the most severe challenging behaviours in Wales: A multivariate regression analysis [PDF]

, 2001
David Felce, Kathy Lowe, Jennifer Beecham, Angela Hallam   +3 more
openalex   +1 more source

Sexuality and intellectual disability [PDF]

, 2018
People with intellectual disabilities have sexual wishes, needs and desires. This study examines this comprehensive, complex and sensitive matter. We discovered that this group does not necessarily have sexual rights. They are confronted not only with overprotection and limitations imposed by their environment but also with their own lack of skills and
openaire   +2 more sources

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source