Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seckel's syndrome consists of multiple congenital anomalies, including bird-headed dwarfism, mental deficiency, and skeletal and ophthalmic defects. We report a patient with this syndrome who demonstrated pigmentary changes, including streaks of brown pigmentation on the neck, groin, and axillae. Histologic examination revealed pigment incontinence.
 ...
PMID:Pigmentary changes in Seckel's syndrome. 50 Aug 66

51 adults with spina bifida, aged between 18 and 56 years, resident in South Wales, were interviewed in their home. Although only four had obvious hydrocephalus, one-third of them were severely handicapped and a further 40% had moderate handicap. Over half of them had had their secondary education in a normal school, with the remainder having special schooling or home tuition. Seventy per cent of the series was in normal, full-time occupation, including half those severely handicapped. Those in work were largely in managerial/technical, clerical, and light manual occupations. It is concluded that extendance and training, followed by special job placement, would help to integrate them into the community. These patients show that, in the absence of mental retardation, even severe physical handicap is no bar to normal occupation and that paralysis and incontinence alone are probably not valid selection factors for or against 'aggressive' treatment for spina bifida.
 ...
PMID:Degree of physical handicap, education, and occupation of 51 adults with spina bifida. 78 21

The Birmingham Special Needs Register, a computerized database, was used to examine the disabilities of, and the use of psychoactive (psychotropic and antiepileptic) drugs among 1825 people over the age of 20 with mental retardation. People living in three different types of residential setting (hospitals, community residential facilities and family homes) were compared. The prevalence of physical disability, impaired communication and incontinence was highest among people resident in hospital, followed by those living with their families. People resident in community residential facilities were the least disabled group. Psychotropic drugs prescribed to alter behaviour were used most frequently in hospitals (prescribed for 40.2% of people), followed by community residential facilities (19.3%). Use was lowest in family homes (10.1%). Most hospital residents who received medication to alter behaviour did not have a diagnosed psychiatric disorder. The reported prevalence of behaviour disorders among the three populations was not significantly different. Drugs for epilepsy were prescribed for 26.2% of hospital residents, 9.3% of people in community residential facilities and 18.5% of people living with their families.
 ...
PMID:Psychotropic drugs and mental retardation: 1. Disabilities and the prescription of drugs for behaviour and for epilepsy in three residential settings. 226 49

Initially described as incontinentia pigmenti achromians, Ito's hypomelanosis is a congenital disease characterized dermatologically by depigmented maculae arranged in a specific pattern. These maculae appear suddenly, unheralded by an inflammatory process, and are arranged on the limbs as lines and on the trunk as whirlwinds or mottled cakes. Other abnormalities, notably neurological, ophthalmic or musculoskeletal may be associated with this spray-like depigmentation of the skin. We report here three cases of this disease, which is probably more common than the scarcity of cases hitherto published would suggest. Case no. 1. A 9-year-old boy presented since the age of 5 with generalized convulsive fits predominant on the right side. Neurological examinations between fits were negative. IQ, FO and CT scans of the brain were normal. During the first months of life, the child had developed a spray-like depigmentation on the right half of his back and on the anterior and posterior aspects of his right arm. Case no. 2. A 2-year-old girl was examined for a cutaneous depigmentation which had developed when she was about 3 months' old and had progressively extended from her left knee to her left hypochondrium. Case no. 3. An 8-year-old girl presented with mental retardation and myopia, but also with a spray-like depigmentation on the left part of her chest. The skin lesion had been noticed by her parents after she had exposed herself to the sun in a tropical country. Histological examination performed in the first two patients showed some degree of hypopigmentation of the epidermis without pigmentary incontinence.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Ito's hypomelanosis. Review of the literature apropos of 3 cases]. 370 84

Oral continence is achieved through the harmonious interplay of several factors of which the most important are the lip sensitivity, the strength of the orbicularis oris muscle and the height of the lip curtain. Forty-four persons with varying degrees of oral incontinence and diverse lip disorders were then examined and compared against the normal values. Significantly low values for all three factors found in the orally incontinent patients supported our hypothesis that the normality of these factors is essential for the maintenance of the oral seal. Central causes of dribbling, such as mental retardation and salivary over-secretion, irrespective of etiology, are not considered here.
 ...
PMID:Lip function: a study of oral continence. 649 96

The object of this study was to demonstrate detrusor hyperreflexia (DH) in schizophrenic patients. Twelve consecutive schizophrenic patients were evaluated by DSM-IIIR diagnostic criteria and other standard psychiatric measures, urological history and examination, and urodynamic study. All were referred for clinical indication, voiding dysfunction, or incontinence. Two patients were excluded for confounding variables, mental retardation and benign prostatic hypertrophy. Of the ten evaluable patients, four had DH. Detrusor hyperreflexia does occur in a subset of schizophrenic patients, even in the absence of other recognized disease to explain the occurrence. This relationship, previously unreported, warrants further investigation.
 ...
PMID:Preliminary report: detrusor hyperreflexia in schizophrenia. 758 74

Incontinentia pigmenti (IP) is a hereditary syndrome characterized by specific skin lesions occurring mostly during the neonatal period (96% of the cases before 6 weeks of age). These skin lesions have four steps of evolution: inflammatory or erythemato-bullous stage (very often associated with peripheral blood hyper-eosinophilia), proliferative or verruco-lichenoid stage, pigmentary or terminal stage characterized by "fountain" or "firework" features (with a picture of pigmentary incontinence at histological examination), sometimes there is a fourth stage referred to as "involutive". Ocular and neurological involvement is the main determinant in the prognosis. Eye lesions include corneal flecks, cataracts, uveitis or optical atrophy with retrolental fribroplasia. The neurological involvement includes pyramidal syndrome, cerebral ataxia, microcephalia, and mental retardation. The disease has mainly an X-linked dominant transmission and is usually lethal for males. Rare cases are observed in boys, some being associated with Klinefelter syndrome. Research is ongoing to identify the IP gene on the X chromosome. In the family form of IP, the gene has been located on chromosome Xq28, which allows prenatal diagnosis using trophoblast biopsy.
 ...
PMID:[Incontinentia pigmenti]. 878 38

Children with mental retardation often present urinary incontinence because they are unable to control micturition. Constipation and/or encopresis are often associated. Careful assessment of the upper urinary tract and renal function is indicated. Urinary infections are frequent, however, bladder dysfunction complications of the upper urinary tract are uncommon. The cause of wetting could be explained by urodynamic findings: small capacity bladder with uninhibited contractions, hypertonic sphincter, or incomplete emptying secondary to detrusor-sphincter dyssynergia. Treatment of urinary incontinence should be adapted to the type of incontinence and be apart of the global training.
 ...
PMID:[Urination disorders and neurological disease except for o obvious medullary pathology: perinatal brain lesions with mental handicap]. 918 Oct 9

We reported three siblings with complicated hereditary spastic paraplegia. The striking features in these patients were characterized by early onset of gait disturbance, mental deficiency, and dystonia. The most likely diagnosis was Mast syndrome. Patient 1: A 44 years-old woman. She first developed gait disturbances at age of 8. She was admitted in our hospital because of progressive spastic paraplegia. Neurological examination revealed mental deficiency, saccadic pursuit eye movement, speech disturbance of cerebellar type, ataxia, and spastic paraplegia. She showed also dystonia in the face, tongue, and trunk. MRI showed cerebellar atrophy. Patient 2: A 51 years-old brother of the patient 1. He had mentally retarded. Late teens he developed gait disturbance. Gradually he manifested spastic paraplegia, dysarthria, dysphasia, mental deficiency, and ataxia. He also showed incontinence of urine and feces. Then he became bedridden, apathetic, and showed forced crying. MRI showed diffuse brain atrophy. Patient 3: A 48 year-old woman. This woman, a sister of the patient 1, showed progressive gait disturbance and dysarthria. She also developed incontinence, apathy, and dystonia. She became bedridden, responding to simple questions with only occasional single-word answers. Her speech was slurred, and spastic paraplegia was noted. MRI showed diffuse brain atrophy including marked atrophy of the cerebellum.
 ...
PMID:[A family of hereditary spastic paraplegia with dementia, ataxia, and dystonia]. 1199 89

Clean intermittent catheterization is a well-known procedure of urinary drainage for patients who are unable to empty the bladder sufficiently. However, some patients with bladder dysfunction and nocturnal polyuria fail to obtain the benefits of intermittent catheterization and have annoying symptoms of nocturnal incontinence and low-compliance bladder, which threaten both their quality of life and renal function. We report the usefulness of nocturnal urethral indwelling catheterization using a specially designed catheter to treat patients (three women) with lower urinary tract dysfunction and nocturnal polyuria. Case 1: A 45-year-old woman with mental retardation suffered from difficulty of micturition and residual urine. A nocturnal urethral indwelling catheter freed her from difficulty with micturition and residual urine. Case 2: A 28-year-old woman with spina bifida and neuropathic bladder dysfunction suffered from urinary incontinence and recurrent pyelonephritis. The recurrent pyelonephritis was prevented and bladder compliance was improved with use of the nocturnal urethral indwelling catheter. Case 3: A 66-year-old woman with cervical myelopathy and multiple episodes of cerebral infarction suffered from nocturnal urinary incontinence. She underwent clean intermittent catheterization by her husband. Use of the nocturnal urethral indwelling catheter solved the problem of her nocturnal incontinence and relieved her husband of her nocturnal care. Nocturnal urethral indwelling catheterization is useful for treatment of nocturnal incontinence and recovery of bladder compliance in patients with lower urinary tract dysfunction and nocturnal polyuria.
 ...
PMID:[Usefulness of nocturnal urethral indwelling catheter for treating bladder dysfunction with nocturnal polyuria: case report of 3 women]. 1262 79


1 2 Next >>