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

A case of periodic hypersomnia in an 11-year-old female with the unique features of mental deficiency, incontinentia pigmenti, acanthosis nigricans and hereditary multiple exostosis (diaphysial aclasis) is reported. The clinical, polysomnographic and Multiple Sleep Latency test features of this case with a follow up of seven years are consistent with a diagnosis of periodic (intermittent) excessive somnolence. The unique presentation, however, does differ from Kleine-Levin syndrome and suggests a relationship between the predominantly ectodermal, congenital disorders and the sleep-wake pattern dysfunction.
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PMID:Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis. 278 4

During the last 10 years (1973-1982), we have surgically treated 9 children for large echinococcus cysts with intraventricular localization. In 7 cases the cysts were localized in lateral ventricles and in 2 cases in IVth ventricle and cerebellum. The children were from 3 to 11 years old. All cases were with signs of mental retardation and immediately before surgical treatment with signs of brain incarceration. In 7 children there was a disorder of consciousness, from drowsiness to deep sleep. The treatment was conducted with two surgical methods. All children survived the surgical treatment.
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PMID:[Voluminous intraventricular hydatid cysts in children]. 408 9

One hundred patients, aged between 60 and 92 years, were treated with tiapride for neurological disorders (abnormal movements, buccofacial dyskinesias, dopa therapy complications, ballism, eyelid tics, senile tremor, post-traumatic headache, delirium tremens), psychiatric disorders with more or less marked agitation and of various types (hysteria, depression, mood disturbances, hypochondria, delusions, hallucinations), or for mental deficiency, senile dementia, or arteriopathic dementia. Results were excellent, being satisfactory in 70 p. cent, and even more marked in some groups. Tolerance was very good, with some rare cases of somnolence. The efficacy and safety of tiapride makes it of particular value for treating neuropsychiatric disorders in geriatric patients.
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PMID:[Tiapride in the treatment of neurological and psychiatric disorders in the elderly (author's transl)]. 627 32

Two hundred nineteen grand mal discharges were reviewed in 50 epileptic patients. It was commonly seen in patients with prenatal and perinatal causes, mental deficiency with neurological deficits, and multiple types of seizures. Eighty-eight percent of the discharges were bilaterally synchronous with 49 percent of bifrontal predominance. Fifty-eight percent were associated with drowsiness or sleep, and 64 percent were associated with clinical accompaniments. The most common clinical signs were tonic movement of arms, legs or neck, eye opening, eye fluttering, head drop, etc. The increased frequency of clinical seizures usually observed during the occurrence of this pattern may provide some clues that the antiepileptic medication should be reassessed to control the oncoming seizure attacks.
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PMID:Grand mal discharge. 643 73

Haloperidol is safe and effective in children for relieving psychotic symptoms associated with childhood autism, schizophrenia and mental retardation. It is the drug of choice for Tourette's syndrome, and may be useful in nonpsychotic hyperactive or aggressive children to control acute episodes, or when the stimulants normally useful in hyperactive children are ineffective. Such children taking haloperidol not only become calmer, but are often better able to respond to other modalities of therapy and to school instruction. Dosage, initially low, is increased gradually to minimize drowsiness and extrapyramidal symptoms, the most common side effects. Haloperidol in children is usually well-tolerated.
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PMID:Haloperidol -- its use in children. 693 55

Child abuse by whiplash-shaking can lead to severe injury in infants, including cerebral damage, neurological defects, blindness, and mental retardation. These findings are seen often without external evidence of head injury. Nurses should suspect shaken baby syndrome (SBS) in infants less than 1 year of age who present with apnea, seizures, lethargy or drowsiness, bradycardia, respiratory difficulty, coma, or death. Subdural and retinal hemorrhages accompanied by the absence of external signs of trauma are hallmarks of the syndrome.
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PMID:Shaken baby syndrome: a nursing perspective. 771 67

Twenty infants aged 2 weeks to 3 months with the diagnosis of bleeding disorder secondary to low prothrombin complex level were studied. Sixty children of the control group were matched to the cases by age +/- 2 weeks, sex and race. The ratio of boys to girls was 2.3:1. The median, mean, and range of age of the cases and controls were 43.5 days, 43.7 days, 21-73 days and 43.5 days, 46.8 days, 26-28 days respectively. Most of them were pale with a mean hematocrit of 23.55%. The partial thromboplastin time and prothrombin time were markedly prolonged. The means of vitamin K dependent coagulation factors II, VII, IX and X were 1.10%, 5.87%, 2.86%, and 4.47% of adult activity, respectively. The clinical manifestations related to the bleeding of the cases were drowsiness and convulsion (95%), pallor (85%), and apparent bleeding (10%). The sites of the bleeding were demonstrated in the cranial cavity (95%), gastrointestinal tract and oral cavity (15%), and skin (5%). Nineteen patients with intracranial hemorrhage had bleeding in the subdural space (79%), intracerebral (42%), intraventricular (32%), and subarachnoid space (5.2%). The mortality rate and permanent brain damage occurred in 10% and 45%, respectively. Only 45% of the cases recovered normally. The permanent neurological sequelaes were hemiparesis (44.4%), microcephaly (33.3%), convulsive disorder (33.3%), mental retardation (33.3%), spasticity (22.2%), and hydrocephalus (11.1%). Breast feeding alone up to the day of study (OR = 7.0, p < 0.005) was found to be a significant risk factor for bleeding in these infants.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Risk factors of bleeding diathesis secondary to low prothrombin complex level in infants: a preliminary report. 788 52

The Rubinstein-Taybi syndrome is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, facial dysmorphism, small stature, and mental retardation. Obstructive sleep apnea (OSA), has been described in several facial or skeletal malformations, but never in the Rubinstein-Taybi syndrome. We studied a 9-year-old boy, previously diagnosed as having the Rubinstein-Taybi syndrome and affected by severe OSA, as documented by polysomnography. He manifested the habitual and heavy snoring with breathing difficulties at night, and excessive daytime sleepiness. Short neck and obesity were important factors for the severity of the syndrome. Continuous positive airway pressure was not tolerated and weight loss was the only possible treatment, as upper airway surgery was not indicated by cephalometric, otolaryngologic or clinical results.
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PMID:Obstructive sleep apnea in the Rubinstein-Taybi syndrome. 834 55

Headbanging is a rhythmic movement disorder (RMD) along with headrolling, bodyrocking and bodyrolling. The International Classification of Sleep Disorders defines RMD as a group of stereotyped, repetitive movements involving large muscles, usually of the head and neck, that typically occur immediately prior to sleep onset and are sustained into light sleep. The average onset is 9 months, and by 10 years of age the majority of subjects no longer complain of headbanging. If it continues, it is usually associated with mental retardation of autism. Headbanging is said to occur during presleep drowsiness or early non-rapid eye movement sleep. Often there is no need for treatment other than reassurance. Behavior modification has had little success. Benzodiazepines (such as oxazepam and diazepam) and tricyclic antidepressants have been used with variable success. We present two cases of headbanging with polysomnographic findings and treatment. The patients are two healthy adult males. They both experienced significant daytime somnolence and repeatedly wakened their partners. Only one of our patients had recorded head movements during his overnight sleep study. There was evidence of headbanging during stage 1 and stage 2 sleep but also during slow wave sleep. Headbanging was recorded during 14% of the epochs. Both patients responded to treatment with clonazepam (at a dose of 1.0 mg nightly) with decreased frequency and severity of headbanging. Although headbanging is most common in childhood, there may be significant number of cases that persist into adulthood. To our knowledge, this is the first report of the treatment of headbanging with clonazepam. Both patients benefited from this treatment.
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PMID:Adult headbanging: sleep studies and treatment. 940 33

A double-blind, placebo-controlled, crossover study of methylphenidate (0.4 mg/kgday) and different doses of fenfluramine (1.0, 1.5, or 2.0 mg/g/day) in children with mental retardation or borderline IQ and ADHD was conducted. Parents, teachers, examiners, and physicians rated the children. There were relatively few significant drug effects by condition. When the optimal fenfluramine dose for each child was compared with placebo and methylphenidate, significant improvements occurred for fenfluramine on several parent and teacher subscales; teachers rated the children as somewhat improved with methylphenidate. The highest dose of fenfluramine produced more behavior compliance but apparently at the cost of cognitive efficiency. Most side effects (drowsiness, dizziness, anorexia) occurred with fenfluramine. Both drugs appear to be effective treatments for children with ADHD and mental retardation, although there is a possible neurotoxic action with fenfluramine. We recommend a gradual phase-in of fenfluramine dosage, up to 1.5 mg/kg/day, for most children.
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PMID:Fenfluramine and methylphenidate in children with mental retardation and borderline IQ: clinical effects. 908 8


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