Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A thirty-three-year-old male with Lowe's syndrome had cataract; nystagmus, buphthalmos, prominent frontal bossing, growth and mental retardation, aminoaciduria, proteinuria, rickets, areflexia, genu valgum, piercing cry and head-banging being among the presenting features. The rickety changes improved over a period of years with the administration of vitamin D2. Pathological changes include: (1) tubular damage in the kidneys and hypertrophies of Bowman's capsules; (2) small brain with ventricular dilatation with thickened meninges, small corpus callosum, small size of pyramidal tracts and medial leminisci, neurofibrillary tangles in the pyramidal cells of the Ammon's horn and frontal lobe; (3) eye changes of buphthalmos, congenital cataracts and thickening of Descemet's membrane; (4) testicular atrophy--both testes showing peritubular fibrosis with an increase of fibrous tissue in the interstitial tissue. Azoospermia was present linked with poor development of spermatogonia and spermatocytes. The lumina of the seminiferous tubules were filled with foamy exudate.
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PMID:Clinicopathological studies of oculo cerebrorenal syndrome of Lowe, Terrey and MacLachlan. 738 30

Data on the long-term effectiveness of behavioral treatment for self-injurious behavior in individuals with mental retardation is rare. We present 4-year follow-up data on a 28-year-old man whose severe self-injurious behavior was treated with brief contingent electric stimulation via the Self-Injurious Behavior Inhibiting System (SIBIS). Event data collected throughout follow-up showed reductions in head-hitting and head-banging from over 2,600 responses per hour to approximately 1 response per hour during much of the first 31 months of treatment. However, the rate of head-banging began increasing thereafter, with the SIBIS losing its effectiveness to such an extent that it was no longer clinically useful.
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PMID:A 4-year follow-up of treatment of self-injury. 837 Jul 98

Stereotypic movement disorders (SMD) such as head-banging, which are common among children with mental retardation or pervasive developmental disorders, may also occur in intellectually normal adults. We report a 27-year history of daily head-banging with self-injury in a 49-year-old man with normal cognition. The patient had no personal or family history of Tourette's syndrome, tic disorder, obsessive-compulsive disorder (OCD), or mental retardation. The frequency of his stereotypical head-banging increased with anxiety, loud noises with startle, and boredom. He reported a sense of pleasure from his head-banging, and the frequency of this behavior decreased when he was treated with the opioid antagonist naltrexone. Although not diagnostic, the self-stimulatory or pleasurable component of head-banging, body-rocking, thumb-sucking, and other SMD may help distinguish them from tics, Tourette's syndrome, OCD, and deliberate self-harming behavior. This report reviews the disorders associated with SMD and discusses the potential mechanisms for these behaviors. The treatment of SMD includes drugs that work through opioid, serotonergic, or dopaminergic systems.
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PMID:Adult head-banging and stereotypic movement disorders. 975 53

Smith-Magenis syndrome (SMS) is a multisystem disorder characterized by developmental delay and mental retardation, a distinctive behavioral phenotype, and sleep disturbance. We undertook a comprehensive meta-analysis to identify genotype-phenotype relationships to further understand the clinical variability and genetic factors involved in SMS. Clinical and molecular information on 105 patients with SMS was obtained through research protocols and a review of the literature and analyzed using Fisher's exact test with two-tailed p values. Several differences in these groups of patients were identified based on genotype and gender. Patients with RAI1 mutation were more likely to exhibit overeating, obesity, polyembolokoilamania, self-hugging, muscle cramping, and dry skin and less likely to have short stature, hearing loss, frequent ear infections, and heart defects when compared with patients with deletion, while a subset of small deletion cases with deletions spanning from TNFRSF13B to MFAP4 was less likely to exhibit brachycephaly, dental anomalies, iris abnormalities, head-banging, and hyperactivity. Significant differences between genders were also identified, with females more likely to have myopia, eating/appetite problems, cold hands and feet, and frustration with communication when compared with males. These results confirm previous findings and identify new genotype-phenotype associations including differences in the frequency of short stature, hearing loss, ear infections, obesity, overeating, heart defects, self-injury, self-hugging, dry skin, seizures, and hyperactivity among others based on genotype. Additional studies are required to further explore the relationships between genotype and phenotype and any potential discrepancies in health care and parental attitudes toward males and females with SMS.
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PMID:Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. 1753 3