Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917801 (insomnia)
 10,606 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An open trial of pharmacological treatment with fluoxetine, ranging from 20 mg every other day to 80 mg per day, led to a significant improvement in Clinical Global Impressions ratings of Clinical Severity in 15 of 23 subjects with autistic disorder and 10 of 16 subjects with mental retardation. Six of 23 patients with autistic disorder and 3 of 16 patients with mental retardation had side effects which significantly interfered with function, consisting predominantly of restlessness, hyperactivity, agitation, decreased appetite, or insomnia. Double-blind studies of the efficacy of pharmacological agents that potently inhibit 5-HT uptake in the treatment of mental retardation coexisting with Axis I psychiatric disorders (especially obsessive-compulsive disorder) and autistic disorder are warranted.
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PMID:Fluoxetine treatment of children and adults with autistic disorder and mental retardation. 164 39

Fragile X syndrome, an X-linked genetic disorder, is the third most common cause of mental retardation. The following is a case of a 6-year-old boy with fragile X syndrome and its characteristic cognitive and behavioral symptomatology, including attention deficit hyperactivity disorder. In addition, this child experienced initial insomnia and nocturnal enuresis, problems not previously reported with fragile X. Previous pharmacological treatment of the syndrome's behavioral difficulties and attention deficit has included stimulants, folic acid, and neuroleptics. This is the first report of the successful use of imipramine. Imipramine also improved the boy's insomnia and enuresis, whereas methylphenidate caused an overall worsening of his condition.
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PMID:Imipramine treatment of ADHD in a fragile X child. 193 2

The clinical histories and treatment of the nine individuals with Down syndrome (DS) and major depression (MD) previously noted in a report on the psychopathology of a population of 164 adults with DS with and without health disorders from a Down Syndrome Clinic are presented (Myers & Pueschel, 1991). The clinical characteristics including DSM-III-R (1987) criteria of these 9 patients plus 13 individuals with DS and MD described in case reports in the literature are summarized. Depression is rarely verbalized and commonly appears as crying, depressed appearance, or mood lability. Vegetative symptoms of disinterest with severe withdrawal and mutism, psychomotor retardation, decreased appetite, weight loss, and insomnia are prominent. Verbal expression of preoccupations of suicide, death, self-depreciation, and guilt were infrequent and may either be not present or not reported due to mutism or moderate level of mental retardation (MR). Hallucinations were prominent. Family history of depression was infrequent. Psychological stressors were noted mostly in the study sample and not in the 13 from the literature. The pattern of vegetative symptomatology with few verbal complaints and prominent hallucinations may be related to moderate mental retardation in these groups with DS rather than specifically to DS.
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PMID:Major depression in a small group of adults with Down syndrome. 748 Sep 57

Seven of 63 children (11%) treated with clobazam (CLB) for refractory epilepsy developed a severe behavior disorder. This disorder was characterized by aggressive agitation, self injurious behavior, insomnia, and incessant motor activity occurring between 10 and 55 days after initiation of drug therapy. The affected children were relatively young (mean age 6.4 years) and developmentally disabled (four were autistic and two had isolated mental retardation). The disorder occurred with a short latency after initiation of therapy and at a relatively low dosage of CLB. Serum levels of other coadministered antiepileptic drugs were unchanged by the administration of CLB. One child was taking CLB monotherapy. This behavioral deterioration required the discontinuation of CLB, after which patients returned to their previous behavior within 3 weeks. After > 3 years of follow-up all children continue to require multiple antiepileptic drugs but have not had a recurrence of this aggressive agitation. The mechanism of the behavioral change is unclear.
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PMID:Aggression in children treated with clobazam for epilepsy. 931 80

Chronotherapy was used to treat severe sleep problems (irregular sleep onset times, frequent night and early wakings, and short total sleep times) in a girl with mental retardation. Chronotherapy involved systematically delaying the child's bedtime each night while maintaining a regular schedule during waking hours until an age-appropriate bedtime was achieved. Immediate improvements in the child's sleep pattern were observed with the introduction of treatment, and an age-appropriate bedtime was achieved in 11 days. Four months of follow-up data indicated that improvements maintained in the home. Although chronotherapy was developed specifically for adults with delayed sleep phase insomnia, the current results suggest that the treatment may be useful for other populations and problems.
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PMID:Using chronotherapy to treat severe sleep problems: a case study. 947 44

Family and adoption studies indicate that genetic factors play a role in the development of many psychiatric disorders. A variable number of possible interacting genes predisposing to the diseases is likely. The genetic dissection has been hampered by genetic complexity as well as by difficulties in defining the phenotypes. Genetic mapping efforts using sib pairs, twins and individual large families has revealed preliminary or tentative evidence for susceptibility loci for a number of psychiatric disorders. Illnesses include the prion disease familial fatal insomnia (FFI), alcoholism, anorexia nervosa, autism, bipolar affective disorder, dyslexia, enuresis nocturnal, epilepsia, obsessive-compulsive disorders (OCD), schizophrenia, as well as the dementias, Alzheimer's disease and frontal lobe dementia, and mental retardation. The genes and proteins related to the newly discovered transmitter in the central nervous system, nitric oxide (NO), and its genes and proteins are also reviewed. The number of mapped human genes now exceeds 30,000 of the estimated total number of 60,000 to 100,000 genes. This rapid development will facilitate gene mapping, as well as efforts to isolate and identify the genes responsible for symptom susceptibility in many of the etiologically unclear psychiatric diseases with complex genetic origin.
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PMID:[Mental disease a heritage. New genetic knowledge can reveal "public diseases" such as autism, dyslexia, alcoholism, anorexia, schizophrenia]. 1070 80

Pediatric neurologic diseases are often associated with different kinds of sleep disruption (mainly insomnia, less frequently hypersomnia or parasomnias). Due to the key-role of sleep for development, the effort to ameliorate sleep patterns in these children could have important prognostic benefits. Study of sleep architecture and organization in neurologic disorders could lead to a better comprehension of the pathogenesis and a better treatment of the disorders. This article focuses on the following specific neurologic diseases: nocturnal frontal lobe epilepsy and abnormal motor behaviors of epileptic origin, evaluating differential diagnosis with parasomnias; achondroplasia, confirming the crucial role of craniofacial deformity in determining sleep-disordered breathing; neuromuscular diseases, mainly Duchenne's muscular dystrophy and myotonic dystrophy; cerebral palsy, evaluating either the features of sleep architecture and the importance of the respiratory problems associated; headaches, confirming the strict relationships with sleep in terms of neurochemical and neurobehavioral substrates; and finally a review on the effectiveness of melatonin for sleep problems in children with neurologic syndromes and mental retardation, blindness, and epilepsy.
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PMID:Sleep disorders in children with neurologic diseases. 1176 88

(1) Severe myoclonic epilepsy of infancy (Dravet's syndrome) is associated with multiple seizures and progressive onset of mental retardation. Available antiepileptics (valproic acid and clonazepam/clobazam) are only partially effective, even when used in combination. (2) Stiripentol is intended to be added to the valproate + clobazam combination when the latter is ineffective. (3) In a two-month double-blind trial, 9 of 21 infants remained seizure-free when stiripentol was added to the valproate-clobazam combination, whereas all 20 infants receiving a placebo instead of stiripentol continued to have seizures. (4) Two follow-up studies lasting two and three years and involving 37 and 46 children showed that about 20% of patients had a major benefit (fewer seizures) when stiripentol was added to inadequately effective valproate-clobazam combination therapy. The possible impact of stiripentol on psychomotor development is unknown. Stiripentol was only moderately effective in adolescents. (5) Stiripentol has common and sometimes serious adverse effects such as loss of appetite (with ensuing weight loss), drowsiness and insomnia. Stiripentol inhibits several cytochrome P450 isoenzymes, including CYP 3A4, creating a high risk of interactions, especially with co-administered antiepileptics. (6) The stiripentol dose strengths currently available in France are unsuitable for infants weighing less than 10 kg. (7) In practice, given the severity of this type of myoclonic epilepsy of infancy, the addition of stiripentol to ongoing but ineffective valproate-clobazam combination therapy is justified, even though the treatment is somewhat difficult to manage and has not yet been fully evaluated.
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PMID:Stiripentol: new preparation. Severe myoclonic epilepsy of infancy: promising. 1587 42

After our initial discovery of under expression of the GABA(A) receptor delta subunit in a genome wide screening for differentially expressed mRNAs in brain of fragile X mice, a validated model for fragile X mental retardation syndrome, we analyzed expression of the 17 remaining subunits of the GABA(A) receptor using real-time PCR. We confirmed nearly 50% under expression of the delta subunit and found a significant 35%-50% reduction in expression of 7 additional subunit mRNAs, namely alpha(1), alpha(3), and alpha(4), beta(1) and beta(2) and gamma(1) and gamma(2), in fragile X mice compared to wild-type littermates. In concordance with previous results, under expression was found in cortex, but not in cerebellum. Moreover, decreased expression of specific GABA(A) receptor subunits in fragile X syndrome seems to be an evolutionary conserved hallmark since in the fragile X fly (Drosophila melanogaster) model we also found almost 50% under expression of all 3 subunits which make up the invertebrate GABA receptor, namely Grd, Rdl and Lcch3. In addition, we demonstrated a direct correlation between the amount of dFmrp and the expression of the GABA receptor subunits Rdl and Grd. Our results add evidence to previous observations of an altered GABAergic system in fragile X syndrome. Because GABA(A) receptors are the major inhibitory receptors in brain, involved in anxiety, depression, insomnia, learning and memory and epilepsy, processes also disturbed in fragile X patients, the well described GABA(A) receptor pharmacology might open new powerful opportunities for treatment of the behavioral and epileptic phenotype associated with fragile X syndrome.
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PMID:Decreased expression of the GABAA receptor in fragile X syndrome. 1704 29

GABA(A) receptors are the major inhibitory neurotransmitter receptors in the mammalian brain, implicated in anxiety, depression, epilepsy, insomnia, and learning and memory. Here, we present several lines of evidence for involvement of the GABAergic system, and in particular the GABA(A) receptor-mediated function, in fragile X syndrome, the most common form of inherited mental retardation. We argue that an altered expression of the GABA(A) receptor has neurophysiologic and functional consequences that might relate to the behavioural and neurological phenotype associated with fragile X syndrome. Interestingly, some neuropsychiatric disorders, such as anxiety, epilepsy and sleep disorders, are effectively treated with therapeutic agents that act on the GABA(A) receptor. Therefore, the GABA(A) receptor might be a novel therapeutic target for fragile X syndrome.
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PMID:The GABAA receptor: a novel target for treatment of fragile X? 1759 Apr 48


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