Results 81 to 90 of about 92,072 (315)

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Late-onset diagnosis of SHINE syndrome in an adolescent with developmental delay: Case report

SAGE Open Medical Case Reports
Sleep disturbances, hypotonia, intellectual disability, neurological disorders, and epilepsy (SHINE) syndrome is a rare autosomal dominant neurodevelopmental disorder. A mutation in the DLG-4 gene on chromosome 17 causes SHINE syndrome.
Mohamed Zebda, Isaiah Carter, Sierra Cowan   +2 more
doaj   +1 more source

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

, 2020
Background Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain.
ELÇİOĞLU, HURİYE NURSEL
core   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

A case report of Diets-Jongmans syndrome caused by a KDM3B gene variant

中国当代儿科杂志
A 5-year-3-month-old boy presented with intellectual disability, autism spectrum disorder, short stature, long ears, large auricles, a broad nasal tip, a pointed chin, and cryptorchidism.
SHEN Ke-Xin, XIANG Yan-Jie, WANG Jin, REN Kang-Yi, DING Yuan   +4 more
doaj   +1 more source

The relationship of dementia prevalence in older adults with intellectual disability (ID) to age and severity of ID

, 2009
Background: Previous research has shown that adults with intellectual disability (ID) may be more at risk of developing dementia in old age than expected. However, the effect of age and ID severity on dementia prevalence rates has never been reported. We
Hassiotis, A., Livingston, G., King, M., Strydom, A.   +3 more
core  

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Dyke–Davidoff–Masson syndrome in a Nigerian

Epilepsy and Behavior Case Reports, 2017
Dyke–Davidoff–Masson syndrome (DDMS) is a rare, but important cause of drug-resistant seizures. Dyke–Davidoff–Masson syndrome is a constellation of clinical features that consists of hemiparesis, seizure, facial asymmetry, and intellectual disability ...
Philip B. Adebayo, Amnat Bakare, Modupe M. Bello, Opeyemi D. Olaewe, Kolawole W. Wahab   +4 more
doaj   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Health Needs of Adults with Intellectual Disability Relevant for the Family Physician

The Scientific World Journal, 2003
People with developmental disability, mental retardation, or intellectual disability are living longer and becoming prone to age-related health problems and diseases of old age much like the general population. This worldwide trend is also seen in Israel,
Joav Merrick, Isack Kandel, Mohammed Morad   +2 more
doaj   +1 more source