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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Co-morbid conditions frequently occur in childhood epilepsy and may significantly affect epilepsy and its treatment. Similarly, epilepsy and antiepileptic drugs (AEDs) may affect these associated conditions. Co-morbidities that have a significant association with childhood epilepsy include attention-deficit/hyperactivity disorder, autism, developmental disabilities, accidental injury, migraine, and depression/anxiety. Understanding the interrelationships among co-morbidities, epilepsy, and their treatments is essential to optimal management of pediatric patients. Treatment should be individualized with consideration for specific co-morbidities and concomitant medications. Key treatment goals are to achieve seizure control and optimal physical and cognitive function using the simplest possible AED regimen. The clinician should consider whether an antiepileptic treatment can be chosen that also ameliorates the co-morbid condition. Newer AEDs, such as lamotrigine, topiramate, gabapentin, oxcarbazepine, and tiagabine, may benefit children with epilepsy and some co-morbid disorders.
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PMID:Understanding co-morbidities affecting children with epilepsy. 1500 60

What happens to visual artists with neuropsychological deficits? This review will examine artistic production in individuals with a variety of syndromes including achromatopsia, neglect, visual agnosia, aphasia, epilepsy, migraine, dementia and autism. From this review it appears that artists are not spared visual-motor deficits despite their special graphic abilities. Rather their talents allow them to express visual deficits with particular eloquence. By contrast, the effects of aphasia on art are variable. In addition to deficits, neuropsychological syndromes may be associated with positive phenomena. Such phenomena induced by epilepsy or migraines can serve to inspire artists. This review also makes clear that artists with neuropsychological deficits do not necessarily produce art of lesser quality. Rather, their art may change in content or in style, sometimes in surprising and aesthetically pleasing ways. The neuropsychology of visual art also touches on a few central questions about the nature of artistic expression itself. For example, what forms can artistic representations take? How are visual features used descriptively and expressively? What roles do knowing and seeing play in depiction?
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PMID:The neuropsychology of visual artistic production. 1524 93

Comorbidity is the rule, not the exception, in bipolar disorder. The most common mental disorders that co-occur with bipolar disorder in community studies include anxiety, substance use, and conduct disorders. Disorders of eating, sexual behavior, attention-deficit/hyperactivity, and impulse control, as well as autism spectrum disorders and Tourette's disorder, co-occur with bipolar disorder in clinical samples. The most common general medical comorbidities are migraine, thyroid illness, obesity, type II diabetes, and cardiovascular disease. Bipolarity is a marker for comorbidity, and comorbid disorders, especially multiple conditions occurring when a patient is young, may be a marker for bipolarity. Relatively few controlled clinical studies have examined the treatment of bipolar disorder in the context of comorbid conditions (i.e., complicated or comorbid bipolar disorder). However, the first step in treating any type of complicated bipolar disorder--stabilizing a patient's mood--may be associated with improving the comorbid disorder. Standard mood stabilizers, atypical antipsychotics, and non-antimanic antiepileptic agents are emerging as potentially useful treatments for several of the disorders that frequently co-occur with bipolar disorder, and therefore may be useful treatments for comorbid bipolar disorder.
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PMID:Diagnosing and treating comorbid (complicated) bipolar disorder. 1555 95

Celiac disease (CD) long has been associated with neurologic and psychiatric disorders including cerebellar ataxia, peripheral neuropathy, epilepsy, dementia, and depression. Earlier reports mainly have documented the involvement of the nervous system as a complication of prediagnosed CD. However, more recent studies have emphasized that a wider spectrum of neurologic syndromes may be the presenting extraintestinal manifestation of gluten sensitivity with or without intestinal pathology. These include migraine, encephalopathy, chorea, brain stem dysfunction, myelopathy, mononeuritis multiplex, Guillain-Barre-like syndrome, and neuropathy with positive antiganglioside antibodies. The association between most neurologic syndromes described and gluten sensitivity remains to be confirmed by larger epidemiologic studies. It further has been suggested that gluten sensitivity (as evidenced by high antigliadin antibodies) is a common cause of neurologic syndromes (notably cerebellar ataxia) of otherwise unknown cause. Additional studies showed high prevalence of gluten sensitivity in genetic neurodegenerative disorders such as hereditary spinocerebellar ataxia and Huntington's disease. It remains unclear whether gluten sensitivity contributes to the pathogenesis of these disorders or whether it represents an epiphenomenon. Studies of gluten-free diet in patients with gluten sensitivity and neurologic syndromes have shown variable results. Diet trials also have been inconclusive in autism and schizophrenia, 2 diseases in which sensitivity to dietary gluten has been implicated. Further studies clearly are needed to assess the efficacy of gluten-free diet and to address the underlying mechanisms of nervous system pathology in gluten sensitivity.
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PMID:Neurologic presentation of celiac disease. 1582 33

Scores of monogenic Mendelian ion channel diseases serve to anchor the pathophysiology of the channelopathies, but there are also now clear examples of environmental, pharmacogenetic, and acquired channelopathy mechanisms. The cardinal feature of heritable ion channel disease is a periodic disturbance of rhythmic function in constitutionally hyperexcitable tissue. While the complexity of neuroanatomy obscures functional analysis of mutations causing monogenic seizure, ataxia, or migraine syndromes, extrapolation from the cardiac (Long QT [LQT]) and muscle (Periodic Paralysis) channelopathy syndromes provides a simplified predictive framework of molecular pathology: electrically stabilizing potassium ion (K(+)) and chloride ion (Cl(-)) channels, likely having lesions that diminish their current, and excitatory Na(+) channels, likely having gain-of-function lesions. The voltage-gated calcium channel gene family that contains CACNA1C, the newest LQT locus, causing Timothy Syndrome with a phenotype including autism, has proven to be particularly informative for its members' ability to tie the various central nervous system (CNS) phenotypes together in an interpretable fashion, now including direct extension to the classically multigenic neuropsychiatric phenotypes. Features of a promising ion channel candidate gene arise from its broad locus, gene family, nature of alleles, physiology and pharmacology, tissue expression profile, and phenotype in model organisms. KCNN3 is explored as a paradigm to consider.
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PMID:Ion channel functional candidate genes in multigenic neuropsychiatric disease. 1649 76

The recent development of genetic databases and biobanks in a number of countries reflects scientist's beliefs in the future health benefits to be derived from genetic research. The NEPSYBANK is a national program of the Hungarian Clinical Neurogenetic Society with comprehensive participation of the Neurology and Psychiatry Departments of Medical Universities and the National Institute of Psychiatry and Neurology. The NEPSYBANK forms a part of the national biobank project (www.biobank.hu). The goal is to establish nationwide collaboration and common biobanking standards on quality, access, and protection of integrity in the field of neurology and psychiatry. Biological materials and databases are already collected in stroke, epilepsy, multiple sclerosis, motoneuron diseases, dementia, movement disorders, schizophrenia, and alcohol addiction. In peripheral neuropathies, neuropathic pain syndromes, muscle diseases, migraine, myasthenia gravis, depression, panic disease, anxiety, autism, and software development is in progress. The resources have been expanded by continued prospective collection of samples and data and important bottlenecks in sample purification, sample retrieval, in protection of the integrity of the research participants, as well as in guaranteeing the security and confidentiality of the participant's information have been harmonized. The development of uniform consent management, comprehensive sample overview and quality standards for health care-related biobanking may provide a unique opportunity for Hungary in molecular clinically oriented research. The program is a diseased-based research biobank with comprehensive collection of phenotypic and environmental information as well as biobanking of DNA, RNA or buffy coat, plasma, and erythrocytes stored at -80 degrees C. The biobank has a neuropathological part as well: storing conventional pathology and biopsy specimens. The analytical and informational demands being created by biobanking requires a "connectivity of community" that has not traditionally been present in the life sciences. As you put more resources into something, your silos tend to become taller, and we need to avoid this. The life science and healthcare community should be ignored working in individual "silos."
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PMID:Establishing a neurological-psychiatric biobank: banking, informatics, ethics. 1744 54

Gastrointestinal symptoms are common medical problems among autistic patients. A leaky gut and viruses have been proposed as possible culprits but evidence for these etiological agents remains elusive. In this article, we put forward an alternate etiology: abdominal migraines. Recent postmortem studies in autism indicate the presence of a minicolumnopathy and its relationship to both serotonergic abnormalities and a hyperexcitable cortex. These features of phenomenology are also observed in miganeurs. A putative relationship between autism and migraine is further suggested by similarities in clinical histories and laboratory evidence. Some commonalities include the presence of neuroinflammation, sensory overstimulation (e.g., flickering of fluorescent lights), "food allergies", benefits from similar diets, and the role of nitric oxide. Abdominal migraine therefore stands as a falsifiable hypothesis with added importance accrued to potential therapeutic interventions.
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PMID:The minicolumnopathy of autism: A link between migraine and gastrointestinal symptoms. 1757 71

Periodic limb movements of sleep are clinically underdiagnosed in children. Polysomnography is the most accurate diagnostic test. There is a paucity of information regarding polysomnography findings in children. We evaluated the prevalence and correlates of pediatric periodic limb movements detected by polysomnography. Periodic limb movements of sleep were identified in 77 of 982 polysomnograms, with a prevalence of 7.8% and male predominance (47 boys; 30 girls). Mean age was 9.4 +/- 4.2 years (1-19 years) (body mass index, 24.1 +/- 12.3). Mean sleep time was 395.4 +/- 73.4 minutes, of which rapid eye movement sleep constituted 16.6% +/- 6.7%, and slow-wave sleep, 22% +/- 10%. Sleep efficiency was 93.8 +/- 9.83, periodic limb movement index, 9.78 +/-7.9; periodic limb movement arousal, 4.5 +/- 8.4; arousal index, 27.8 +/- 12.4; and peak end-tidal CO(2), 48.9 +/- 10.5 mm Hg. Associated diagnoses included obstructive sleep apnea in 36 (46.8%), attention deficit hyperactivity disorder in 10 (13%), migraine in 7 (9.1%), seizures in 7 (9.1%), autism spectrum disorders in 5 (6.5%), and narcolepsy in 7 (9.1%). Serum ferritin was decreased (mean, 26.1 mug/L) in 29 (96.6%). Prospective studies may clarify the significance of incidental pediatric periodic limb movements in sleep detected on polysomnograms.
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PMID:Correlates of periodic limb movements of sleep in the pediatric population. 1855 70

The spectrum of neurological conditions and psychiatric disorders affected by valproic acid (VPA) ranges from control of seizure and mood disorders to migraine, neuropathic pain, and even congenital malformations and autism. While widely used clinically, the mechanism(s) of action of VPA is not completely understood. Emerging evidence indicates that brain noradrenergic systems contribute to the symptoms of mood disorders and may involve regulation of tyrosine hydroxylase (TH) expression, the rate-limiting enzyme in the biosynthesis of dopamine, norepinephrine and epinephrine. We previously showed that the structurally related short chain fatty acid sodium butyrate (SB) induces TH transcription and alters TH mRNA stability in PC12 cells. The present study was undertaken to determine whether the branched short chain fatty acid VPA could also regulate TH gene expression in vitro. Similar to SB, VPA induced TH transcription at all concentrations tested. VPA-stimulated transcription was significantly attenuated by introducing point mutations in either the canonical cAMP- or in the butyrate-response elements of the TH promoter; or by co-expression of dominant-negative forms of CREB. As with SB, increasing concentrations of VPA demonstrated opposing effects on TH mRNA and protein abundance: elevation of both at low (0.1 mM) but attenuation at concentrations higher than 0.5 mM. This concentration-dependence is consistent with a novel and previously unrecognized cellular/molecular drug regulatory step at the level of TH mRNA stability. Thus, the therapeutic efficacy of VPA might be related to its ability to regulate TH mRNA and protein levels, and thereby central catecholaminergic-dependent behavioral pathways.
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PMID:Valproic acid regulates catecholaminergic pathways by concentration-dependent threshold effects on TH mRNA synthesis and degradation. 1897 38

The calcium ion is one of the most versatile, ancient, and universal of biological signaling molecules, known to regulate physiological systems at every level from membrane potential and ion transporters to kinases and transcription factors. Disruptions of intracellular calcium homeostasis underlie a host of emerging diseases, the calciumopathies. Cytosolic calcium signals originate either as extracellular calcium enters through plasma membrane ion channels or from the release of an intracellular store in the endoplasmic reticulum (ER) via inositol triphosphate receptor and ryanodine receptor channels. Therefore, to a large extent, calciumopathies represent a subset of the channelopathies, but include regulatory pathways and the mitochondria, the major intracellular calcium repository that dynamically participates with the ER stores in calcium signaling, thereby integrating cellular energy metabolism into these pathways, a process of emerging importance in the analysis of the neurodegenerative and neuropsychiatric diseases. Many of the calciumopathies are common complex polygenic diseases, but leads to their understanding come most prominently from rare monogenic channelopathy paradigms. Monogenic forms of common neuronal disease phenotypes-such as seizures, ataxia, and migraine-produce a constitutionally hyperexcitable tissue that is susceptible to periodic decompensations. The gene families and genetic lesions underlying familial hemiplegic migraine, FHM1/CACNA1A, FHM2/ATP1A2, and FHM3/SCN1A, and monogenic mitochondrial migraine syndromes, provide a robust platform from which genes, such as CACNA1C, which encodes the calcium channel mutated in Timothy syndrome, can be evaluated for their role in autism and bipolar disease.
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PMID:Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism. 1915 21


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