Results 131 to 140 of about 92,072 (315)

Case report: Expanding the phenotype of <i>FOXP1</i>-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures. [PDF]

Front Neurol, 2023
Cesaroni CA, Pollazzon M, Mancini C, Rizzi S, Cappelletti C, Pizzi S, Frattini D, Spagnoli C, Caraffi SG, Zuntini R, Trimarchi G, Niceta M, Radio FC, Tartaglia M, Garavelli L, Fusco C.   +15 more
europepmc   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Impaired macroglial development and axonal conductivity contributes to the neuropathology of DYRK1A-related intellectual disability syndrome. [PDF]

Sci Rep, 2022
Pijuan I, Balducci E, Soto-Sánchez C, Fernández E, Barallobre MJ, Arbonés ML.   +5 more
europepmc   +1 more source

The medical approach and the social approach to disability: A descriptive analysis

, 2011
The thesis offers a descriptive analysis of how the “medical approach” to disability and the “social approach” to disability understand and analyse disability as an area of inquiry.
Mauri, Christian John
core  

Assessment Of Postural Adjustments In Persons With Intellectual Disability During Balance On The Seesaw

, 2015
Background: The purpose of this study was to investigate the kinematic and electromyography strategy used by individuals with intellectual disability to keep equilibrium during anterior-posterior balance on seesaws with different degrees of instability ...
Carvalho, R L, Carvalho, RL, Almeida G.L., Almeida, GL, Almeida, G L, Carvalho R.L.   +5 more
core   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Cross‐syndrome comparison of psychopathological risk factors in Williams syndrome, fragile X syndrome and Prader–Willi syndrome

, 2018
Background: Psychopathology is highly prevalent in adolescents and adults with several genetic syndromes associated with intellectual disability, including Williams syndrome (WS), fragile X syndrome (FXS) and Prader–Willi syndrome (PWS).
Armitage, P, Oliver, C, Waite, J, Howlin, P, Dosse, A, Moss, J, Royston, R   +6 more
core   +1 more source

Chromatin Structure and Intellectual Disability Syndromes

, 2013
The molecular complex consisting of DNA and its associated proteins is referred to as chromatin. In the central nervous system (CNS), dynamic chromatin remodelling is required for cell division, specification, differentiation, maturation and to respond appropriately to environmental cues (reviewed in 1-4).
Adrienne Elbert, Nathalie G.
openaire   +2 more sources

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Use of biomarkers in the diagnosis of Alzheimer’s disease in adults with intellectual disability

The Lancet. Healthy Longevity
Summary: People with intellectual disability are a vulnerable cohort who face challenges accessing health care. Compared with the general population, people with intellectual disability have an elevated risk of developing dementia, which often presents ...
Aoife McFeely, MB, Antoinette O’Connor, MB PhD, ProfMB PhD Sean P Kennelly, MB PhD   +2 more
doaj   +1 more source