Results 71 to 80 of about 7,199,374 (204)

Case Reports of Aortic Aneurism in Fragile X Syndrome [PDF]

, 2022
Fragile X syndrome (FXS) is an inherited genetic condition that is the leading known cause of inherited intellectual developmental disability. Phenotypically, individuals with FXS also present with distinct physical features including, elongated face ...
Andrew DePass, Randi J. Hagerman, Lozano, Reymundo, Lewis, Sivan, DePass, Andrew, Reymundo Lozano, Hagerman, Randi J, Hagerman, Randi J., Sivan Lewis   +8 more
core   +1 more source

Initial Review of Government‐Funded Reproductive Carrier Screening for Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome

Prenatal Diagnosis, EarlyView.
Paul A. Scuffham, Edwin P. Kirk, Martin B. Delatycki, Martin Downes, Nigel G. Laing   +4 more
wiley   +1 more source

Fragile X syndrome and connective tissue dysregulation

, 2019
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism spectrum disorders, and it is an X-linked disorder in which there is a deficiency of the fragile X mental retardation 1 protein.
Saldarriaga-Gil, W, Payan-Gomez, C, Ramirez-Cheyne, JA, Hagerman, P, Ayala-Zapata, S, Hagerman, R, Duque, GA   +6 more
core   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, Volume 68, Issue 11, Page 1601-1609, November 2026.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Reading and Phonological Skills in Boys with Fragile X Syndrome [PDF]

, 2015
Reading skills are critical for the success of individuals with intellectual disabilities. Literacy has received little attention in fragile X syndrome (FXS), the most common inherited cause of intellectual impairment.
Stephen R. Hooper, Hooper, Stephen R., Roberts, Jane E, Mirrett, Penny L, Bailey, Donald B., Jane E. Roberts, Hunt, Anna W, Mirrett, Penny L., Deborah D. Hatton, Roberts, Jane E., Jessica Klusek, Penny L. Mirrett, Hunt, Anna W., Donald B. Bailey, Anna W. Hunt, Bailey, Donald B, Hatton, Deborah D., Klusek, Jessica, Hatton, Deborah D, Hooper, Stephen R   +19 more
core   +1 more source

The F‐words for childhood development in community‐based physical activity programmes for children with physical disabilities: A scoping review

Developmental Medicine &Child Neurology, Volume 68, Issue 11, Page 1501-1513, November 2026.
This scoping review identifies intervention ingredients that address the F‐words for childhood development in community‐based physical activity programs for children with physical disabilities. An electronic database and hand search of the international literature was conducted.
Belinda Munroe, Sarah Ashcroft, Suzanne Lock, Kylie Turner, Belinda Arnold, Sarah Reedman   +5 more
wiley   +1 more source

Early Diagnosis of Fragile X Syndrome

, 2003
Surveys from 274 families with at least one child with fragile X syndrome (FXS) were used to determine factors associated with the discovery of the diagnosis in a study at the University of North Carolina, Chapel Hill ...
J Gordon Millichap, Millichap, J. Gordon
core   +1 more source

Cognitive, Environmental, and Linguistic Predictors of Syntax in Fragile X Syndrome and Down Syndrome [PDF]

, 2012
We examined which cognitive, environmental, and speech/language variables predict expressive syntax in boys with fragile X syndrome (FXS), Down syndrome (DS), and typical development (TD), and whether predictive relationships differed by ...
Roberts, Joanne E., Martin, Gary E., Estigarribia, Bruno   +2 more
core   +1 more source

Prevalence of Mental Disorders in Parents With Intellectual Disabilities: A Systematic Review

Journal of Intellectual Disability Research, Volume 70, Issue 11, Page 1133-1150, November 2026.
ABSTRACT Background Research indicates that an increasing number of adults with intellectual disabilities (IDs) are becoming parents. Parents with ID face multiple challenges that increase their mental health risks. In order to ensure better detection and tailored care for parents with ID, this systematic review aimed to summarise the prevalence of ...
Sonya Rudra, Louise Marston, Angela Hassiotis, Giovanni Boido, Mary Baginsky, Claire A. Wilson   +5 more
wiley   +1 more source

Are UK Research Priorities Aligned? Comparing the Research Priorities of the Down Syndrome, Fragile X Syndrome and Williams Syndrome Communities, With the Research and Funding Landscape

Mind, Brain, and Education, Volume 20, Issue 4, November 2026.
ABSTRACT There is a lack of understanding of how research activity in learning disability compares with community research priorities in the United Kingdom, where an estimated 1.5 million people live with a learning disability. Using Down syndrome (DS), Fragile X syndrome (FXS) and Williams syndrome (WS) as model conditions with learning disability, we
Laura Cristescu, Elizabeth Pellicano, Gaia Scerif, Jo Van Herwegen, Emily K. Farran   +4 more
wiley   +1 more source