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23 (2019) [1] Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. [2] It is characterized by hypotonia, intellectual disability, and macrocephaly. [3] Children with JS may also have epilepsy or meet criteria for diagnosis with ...
SYNGAP1-related intellectual disability. SYNGAP1-related intellectual disability is a monogenetic developmental and epileptic encephalopathy that affects the central nervous system. [1][2] Symptoms include intellectual disability, epilepsy, autism, sensory processing deficits, hypotonia and unstable gait. [3][4][5]
Intellectual disability. Intellectual disability (ID), also known as general learning disability (in the United Kingdom [3]) and formerly mental retardation (in the United States [4]), [5][6] is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent ...
Childhood disintegrative disorder, also known as Heller's syndrome and disintegrative psychosis, is a rare condition characterized by late onset of developmental delays in language, social function, and motor skills. Researchers have not been successful in finding a cause for the disorder. CDD has some similarity to autism, and is sometimes ...
There are a variety of disabilities affecting cognitive ability.This is a broad concept encompassing various intellectual or cognitive deficits, including intellectual disability (formerly called mental retardation), deficits too mild to properly qualify as intellectual disability, various specific conditions (such as specific learning disability), and problems acquired later in life through ...
The acronym "MASA" stands for the four main signs and symptoms associated with the syndrome: (1) mental retardation (mild to moderate intellectual disability), (2) aphasia (delayed onset of speech), (3) shuffling gait, and (4) adducted thumbs [4] characterized by cleft palate, microcephaly, and dysmyelination. [5]
Smith–Magenis syndrome. Smith–Magenis syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. [1] It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm.
Mild cognitive impairment (MCI) is a neurocognitive disorder which involves cognitive impairments beyond those expected based on an individual's age and education but which are not significant enough to interfere with instrumental activities of daily living. [1] MCI may occur as a transitional stage between normal aging and dementia, especially ...