Mental Retardation - Pathology
Research News and Information

Monday, November 23, 2009

Calcium/calmodulin-dependent serine protein kinase and mental retardation.

29 Sep 2009 Calcium/calmodulin-dependent serine protein kinase (CASK) belongs to the membrane-associated guanylate kinase protein family. The members of this protein family function as multiple domain adaptor proteins originally identified at cell junctions and ... Read more...

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.

30 Aug 2009 Cohen syndrome is an autosomal recessive disorder that is characterized by mental retardation, facial dysmorphism, microcephaly, retinal dystrophy, truncal obesity, joint laxity and intermittent neutropenia. Mutations in the VPS13B (COH1) gene ... Read more...

Focal cortical dysplasia type II: biological features and clinical perspectives.

30 Aug 2009 Focal cortical dysplasia (FCD) type II is an important cause of drug-resistant epilepsy. Clinical presentation is variable, and depends on age of onset of seizures and the location and size of lesion. As FCD type II cannot be diagnosed with ... Read more...

Latest indexed articles for 'Mental Retardation - Pathology'

These are the very latest articles for this heading:

• Calcium/calmodulin-dependent serine protein kinase and mental retardation. 29 Sep 2009
• Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. 30 Aug 2009
• Focal cortical dysplasia type II: biological features and clinical perspectives. 30 Aug 2009
• Massive lymphedema, atrial septal defect, mild mental retardation: Possible case of Irons-Bianchi syndrome. 30 Jul 2009
• Pontine tegmental cap dysplasia: the severe end of the clinical spectrum. 26 Jul 2009
• POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. 26 Jul 2009
• Ocular manifestations in Wolf-Hirschhorn syndrome. 30 May 2009
• Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. 10 May 2009
• Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. 9 May 2009
• Brain magnetic resonance imaging of siblings from families with two or more children with learning or intellectual disabilities and need for full-time special education. 29 Apr 2009
• Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. 13 Apr 2009
• Costello syndrome H-Ras alleles regulate cortical development. 12 Apr 2009
• Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. 30 Mar 2009
• Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up study. 2 Mar 2009
• Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. 27 Feb 2009
• Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome. 27 Feb 2009
• Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. 27 Feb 2009
• Cerebro-oculo-nasal syndrome: report of a case with a severe phenotype. 27 Feb 2009
• Café au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association. 30 Dec 2008
• Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature. 30 Dec 2008

See a longer list of these articles.

Technical information about 'Mental Retardation'

Definition: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)

Descriptor UI: D008607

Alternative terms: Mental Retardation; Retardation, Mental; Idiocy; Deficiency, Mental; Deficiencies, Mental; Mental Deficiencies; Mental Deficiency; Mental Retardation, Psychosocial; Mental Retardations, Psychosocial; Psychosocial Mental Retardation; Psychosocial Mental Retardations; Retardation, Psychosocial Mental; Retardations, Psychosocial Mental;

Related Mesh Headings: Abnormalities, Multiple; Cockayne Syndrome; Congenital Hypothyroidism; Cri-du-Chat Syndrome; De Lange Syndrome; Down Syndrome; Education of Mentally Retarded; Fragile X Syndrome; Laurence-Moon Syndrome; Prader-Willi Syndrome; Rubinstein-Taybi Syndrome; Rett Syndrome; Angelman Syndrome; Williams Syndrome; Mentally Disabled Persons; Brain Diseases, Metabolic, Inborn; Bardet-Biedl Syndrome;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; urine; veterinary; ultrasonography; virology;

Tree Number: C10.597.606.643; C23.888.592.604.646; F01.700.687; F03.550.600;

History Note: 1967(1963)

Technical Notes: use Cat C qualif; /rehabil permitted: do not equate with EDUCATION OF MENTALLY RETARDED