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)

Skin potential responses (SPRs) of 89 mentally retarded children were studied during their nocturnal sleep. Forty-three out of the 89 subjects showed more SPRs (type A) during NREM sleep than in REM sleep. The opposite was observed in 10 cases (type C), and 4 had evenly distributed SPRs during both sleep phases (type B). The remaining 32 subjects had mixed types AB (n = 19), AC (n = 6) or BC (n = 7). Types B and C (including the mixed type) were observed more frequently for subjects with low developmental quotient (DQ) and abnormal clinical EEGs than for those with high DQ and normal clinical EEGs. Since it has been well established that normal subjects of 3 months and over exhibit exclusively type A, SPRs may be used as an additional tool for the diagnostic assessment of mental retardation in early infancy.
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PMID:Developmental disorders of skin potential responses in mentally retarded children during nocturnal sleep. 243 77

Skin potential responses (SPRs) of 38 mentally retarded children were studied during their nocturnal sleep. One subject exhibited no SPRs; 19 of the 37 subjects showed more SPRs (Type A); 11, no predominant ones (Type B); and 7, fewer SPRs (Type C) during quiet sleep (no rapid eye movements, NREM sleep) than in active sleep (REM sleep). Types B and C tended to be observed more frequently for subjects with abnormal clinical EEGs than for those with normal clinical EEGs. Because investigators have established that nonretarded subjects of 3 months and over exhibit Type A, SPRs may be used as an additional assessment for diagnosis of mental retardation in early infancy.
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PMID:Skin potential responses of mentally retarded children during nocturnal sleep. 405 Aug 80

Concurrence of REM and sleep spindle in 45 mentally retarded children (from 4 months to 8 years of age) was studied throughout nocturnal sleep, and the following results were obtained. (1) Twenty-five cases showed a single or burst of REMs during stage NREM with sleep spindles. (2) Twenty-nine cases showed sleep spindles at the beginning or toward the end of stage REM sleep. (3) No significant difference in DQ was found between the subjects with and without REMs during stage NREM sleep. The former subjects, however, had more normal clinical EEGs than the latter. (4) No significant difference in DQ or clinical EEG classification was revealed between the subjects with REMs during stage NREM sleep and those with spindles during stage REM sleep. (5) It was concluded that the concurrence of REM and sleep spindle during stage NREM is a useful sign for early diagnosis of mental retardation.
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PMID:Concurrent occurrence of rapid eye movement with spindle burst during nocturnal sleep in mentally retarded children. 617 98

Four cases with intractable epilepsy and mental retardation (Epi + MR), four cases of mental retardation (MR), one case of mental retardation without epileptic seizures for the last several years (MR + (Epi] and two normal children were studied on their sleep pattern. Besides these, two cases of epilepsy (Epi) were examined. Awake time increased in the Epi + MR group. Slow wave sleep decreased markedly in the Epi + MR group. REM sleep decreased in the MR + (Epi) and Epi + MR groups. REM density was lowered in the following order: normal----Epi----MR----Epi + MR groups. The difference of sleep pattern among the normal, Epi and MR groups was not exhibited clearly, but severe sleep disturbances were shown in the Epi + MR group, implicating the severe brain dysfunction in the cortex and the brain stem.
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PMID:Sleep pattern in children with intractable epilepsy and mental retardation. 654 13

We report four children with epilepsy with "continuous spike-waves during slow wave sleep" (CSWSS). The main clinical features were partial motor seizures, mental retardation and motor deficit. The EEG findings were characterized by nearly continuous (> 85%) diffuse slow spike and wave activity in two patients, and localized to one hemisphere in two other cases during non-REM sleep. The treatment was effective in improving the clinical seizures, but not the EEG pattern. We believe that this epileptic syndrome has been overlooked and routine sleep EEG studies on epileptic children may disclose more cases of CSWSS.
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PMID:Epilepsy with continuous spike-waves during slow wave sleep: a clinical and electroencephalographic study. 748 32

Butoctamide hydrogen succinate (BAHS) has been proved to increase REM sleep in patients with reduced REM sleep. Following previous experiments on the effects of BAHS on nocturnal sleep of mentally retarded (MR) subjects, a polygraphic study was conducted on 20 MR subjects (age 8-14 years) to verify the effects of BAHS, 1) after long-term administration and 2) in different etiologies of MR. Subjects were divided into two balanced groups receiving placebo or 400 mg BAHS before sleep for a 6-month period. Basal sleep did not differ substantially in the two groups, both presenting reduced REM sleep. Low amounts of REM sleep were partially reversed by BAHS administration, which caused a significant increase in the REM sleep stage. Post-treatment sleep modifications found in the experimental group were not observed in the control group. BAHS produced its effects on REM sleep immediately after the first administration of the drug, but they became more apparent after long-term treatment. Our findings indicate that long-term administration of BAHS at low dosage maintains its effects on REM sleep of mentally retarded children, causing modifications similar to those previously obtained with single administration at higher dosages in cats, in healthy young and elderly volunteers and in Down's syndrome children. In addition, our observations demonstrate the effectiveness of BAHS on REM sleep, when utilized in mental retardation of etiologies other than Down's syndrome.
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PMID:Long-term administration of butoctamide hydrogen succinate on nocturnal sleep of mentally retarded subjects: a polygraphic study versus placebo. 760 45

Trisomy 17 has never been reported in a live birth. We present a case of mosaic trisomy 17 in a male presenting with mental retardation, seizures, attention deficit hyperactivity and autistic disorders, hearing loss, growth retardation, microcephaly, and minor anomalies. Although peripheral blood lymphocyte chromosomes were normal, trisomy 17 was present in the skin fibroblasts. The percentage of abnormal cells appears to have increased from 18% in an initial skin biopsy at age 3 years 8 months to 80% at age 8 years 8 months. Molecular analysis using 13 highly polymorphic markers spanning the length of chromosome 17 demonstrated the extra chromosome 17 in the skin to be of paternal origin. Three alleles were never seen in the trisomic cell line, suggesting that the extra chromosome arose through a mitotic duplication error after conception. Uniparental disomy was excluded in the euploid blood sample. Although Smith-Magenis syndrome involves a deletion of proximal 17p, some of the clinical features of this mosaic trisomy 17 patient, such as decreased REM sleep and increased tolerance to pain, are suggestive of phenotypic features observed in Smith-Magenis syndrome. We speculate that there are dosage-sensitive genes located in 17p11.2 that produce these phenotypes for either deficiencies or over-expression of their gene products.
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PMID:A clinical and molecular study of mosaicism for trisomy 17. 855 63

Norrie disease (ND) is an X-linked recessive disorder causing ocular atrophy, mental retardation, deafness, and dysmorphic features. Virtually absent monoamine oxidase (MAO) type-A and -B activity has been found in some boys with chromosome deletions. We report the coexistence of cataplexy and abnormal REM sleep organization with ND. Three related boys, referred for treatment of medically refractory atonic spells and apneas, underwent extended EEG-video-polysomnographic monitoring. They demonstrated attacks of cataplexy and inappropriate periods of REM sleep during which they were unarousable. One boy also had generalized tonic-clonic seizures. Previous testing revealed that all three have complete ND gene deletions. In all subjects, platelet MAO-B activity was absent, serum serotonin levels were markedly increased, and plasma catecholamine levels were normal. Data from the canine narcolepsy syndrome model implicate abnormal catecholaminergic and cholinergic activities in the pathogenesis of cataplexy. Our findings suggest that abnormal MAO activity or an imbalance between serotonin and other neurotransmitter levels may be involved in the pathogenesis of human cataplexy.
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PMID:Cataplexy and monoamine oxidase deficiency in Norrie disease. 862 63

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic, neurologic, developmental, ophthalmologic, otolaryngologic, and audiologic evaluations were performed on 27 SMS patients. Significant findings include otolaryngologic abnormalities in 94%, eye abnormalities in 85%, sleep abnormalities (especially reduced REM sleep) in 75%, hearing impairment in 68% (approximately 65% conductive and 35% sensorineural), scoliosis in 65%, brain abnormalities (predominantly ventriculomegaly) in 52%, cardiac abnormalities in at least 37%, renal anomalies (especially duplication of the collecting system) in 35%, low thyroxine levels in 29%, low immunoglobulin levels in 23%, and forearm abnormalities in 16%. The measured IQ ranged between 20-78, most patients falling in the moderate range of mental retardation at 40-54, although several patients scored in the mild or borderline range. The frequency of these many abnormalities in SMS suggests that patients should be evaluated thoroughly for associated complications both at the time of diagnosis and at least annually thereafter.
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PMID:Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) 937 33

Obstructive sleep apnoea episodes have been reported repeatedly in Down's syndrome (DS) patients as a consequence of the presence of predisposing malformations or intercurrent pathology of the upper airways. There are no data on respiratory patterns of uncomplicated Down's syndrome subjects. In order to evaluate the eventual effects of central nervous system (CNS) impairment on respiration in DS, we studied the respiratory patterns during sleep of a group of 10 DS subjects, aged 8.6-32.2 y, without relevant upper airway pathology. In order to control the possible effects of sleep structure and mental retardation on the results obtained, we compared the findings in DS with those obtained from a group formed by subjects affected by fragile X syndrome (six males and one female, aged 10.0-15.42 y) another genetically determined type of mental retardation. Sleep structure was similar in both groups; however, DS subjects showed significantly higher indices of central sleep apnoea and of oxygen desaturation than fragile X patients (P < 0.005). As far as DS individuals were considered, a significant preponderance of central, as opposed to obstructive, sleep apnoeas was found (89.4% vs. 9.4%, respectively; 1.2% were mixed) which showed a significant age-related increase. Central respiratory pauses were mostly preceded by sighs, which occurred more frequently during sleep stages 1 and REM, and were often organized in long sequences of periodic-like breathing. During REM sleep, they were less frequently preceded by sighs and by body movements than during NREM sleep. Obstructive sleep apnoeas occurred more often during REM sleep and were more rarely preceded by sighs or by body movements. Both central and obstructive apnoeas induced significant oxygen desaturation in 50-69.6%. Sleep structure was not significantly modified by apnoeas and oxygen desaturation. We hypothesize that the increase in central sleep apnoeas is related to a dysfunction of the central respiratory control at a brainstem level in DS.
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PMID:Respiratory patterns during sleep in Down's syndrome:importance of central apnoeas. 937 33


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