Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Despite recent advances in understanding the molecular mechanisms of autism spectrum disorders (ASD), the current treatments for these disorders are mostly focused on behavioral and educational approaches. The considerable clinical and molecular heterogeneity of ASD present a significant challenge to the development of an effective treatment targeting underlying molecular defects. Deficiency of SHANK family genes causing ASD represent an exciting opportunity for developing molecular therapies because of strong genetic evidence for SHANK as causative genes in ASD and the availability of a panel of Shank mutant mouse models. In this article, we review the literature suggesting the potential for developing therapies based on molecular characteristics and discuss several exciting themes that are emerging from studying Shank mutant mice at the molecular level and in terms of synaptic function.
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PMID:Therapeutic approaches for shankopathies. 2353 26

Symptoms similar to those found in Attention-Deficit/Hyperactivity Disorder (ADHD) often occur in children with Autism Spectrum Disorders (ASD). The objective of the current study was to compare verbal working memory, acquisition and delayed recall in children with High-Functioning Autism (HFA) to children with ADHD and typically developing children (TDC). Thirty-eight children with HFA, 79 with ADHD and 50 TDC (age 8-17) were assessed with a letter/number sequencing task and a verbal list-learning task. To investigate the possible influence of attention problems in children with HFA, we divided the HFA group into children with (HFA+) or without (HFA-) "attention problems" according to the Child Behaviour Checklist 6-18. The children with HFA+ displayed significant impairment compared to TDC on all three neurocognitive measures, while the children with HFA- were significantly impaired compared to TDC only on the working memory and acquisition measures. In addition, the HFA+ group scored significantly below the HFA- group and the ADHD group on the verbal working memory and delayed recall measures. The results support the proposition that children with HFA+, HFA-, and ADHD differ not only on a clinical level but also on a neurocognitive level which may have implications for treatment.
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PMID:Symptoms of ADHD in children with high-functioning autism are related to impaired verbal working memory and verbal delayed recall. 2371 67

Autism Spectrum Disorders (ASDs) and Attention Deficit and Hyperactivity Disorder (ADHD) are the most common comorbid conditions associated with childhood epilepsy. The co-occurrence of an epilepsy/autism phenotype or an epilepsy/ADHD phenotype has a complex and heterogeneous pathogenesis, resulting from several altered neurobiological mechanisms involved in early brain development, and influencing synaptic plasticity, neurotransmission and functional connectivity. Rare clinically relevant chromosomal aberrations, in addition to environmental factors, may confer an increased risk for ASDs/ADHD comorbid with epilepsy. The majority of the candidate genes are involved in synaptic formation/remodeling/maintenance (NRX1, CNTN4, DCLK2, CNTNAP2, TRIM32, ASTN2, CTNTN5, SYN1), neurotransmission (SYNGAP1, GABRG1, CHRNA7), or DNA methylation/chromatin remodeling (MBD5). Two genetic disorders, such as Tuberous sclerosis and Fragile X syndrome may serve as models for understanding the common pathogenic pathways leading to ASDs and ADHD comorbidities in children with epilepsy, offering the potential for new biologically focused treatment options.
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PMID:Epilepsy associated with autism and attention deficit hyperactivity disorder: is there a genetic link? 2372 75

Along with the understanding of the goal of an action ("what" is done) and the intention underlying it ("why" it is done), social interactions largely depend on the appraisal of the action from the dynamics of the movement: "how" it is performed (its "vitality form"). Do individuals with autism, especially children, possess this capacity? Here we show that, unlike typically developing individuals, individuals with autism reveal severe deficits in recognizing vitality forms, and their capacity to appraise them does not improve with age. Deficit in vitality form recognition appears, therefore, to be a newly recognized trait marker of autism.
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PMID:Impaired vitality form recognition in autism. 2379 28

There has been a dramatic enhancement of the reported incidence of autism in different parts of the world over the last 30 years. This can apparently not be explained only as a result of improved diagnosis and reporting, but may also reflect a real change. The causes of this change are unknown, but if we shall follow T.C. Chamberlin's principle of multiple working hypotheses, we need to take into consideration the possibility that it partly may reflect an enhancement of the average frequency of responsible alleles in large populations. If this hypothesis is correct, it means that the average germline mutation rate must now be much higher in the populations concerned, compared with the natural mutation rate in hominid ancestors before the agricultural and industrial revolutions. This is compatible with the high prevalence of impaired human semen quality in several countries and also with what is known about high levels of total exposure to several different unnatural chemical mutagens, plus some natural ones at unnaturally high levels. Moreover, dietary deficiency conditions that may lead to enhancement of mutation rates are also very widespread, affecting billions of people. However, the natural mutation rate in hominids has been found to be so high that there is apparently no tolerance for further enhancement of the germline mutation rate before the Eigen error threshold will be exceeded and our species will go extinct because of mutational meltdown. This threat, if real, should be considered far more serious than any disease causing the death only of individual patients. It should therefore be considered the first and highest priority of the best biomedical scientists in the world, of research-funding agencies and of all medical doctors to try to stop the express train carrying all humankind as passengers on board before it arrives at the end station of our civilization.
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PMID:Should autism be considered a canary bird telling that Homo sapiens may be on its way to extinction? 2399 Aug 19

Scurvy is rare in developed countries but is known to cause lower-extremity pain and refusal to ambulate in children. Since the discovery of the link between scurvy and dietary deficiency of ascorbic acid, there has been a substantial decrease in its prevalence and recognition. Here we describe 3 cases of scurvy in young children presenting with difficulty walking. Only 1 of 3 patients had gingival lesions at the initial presentation. Two cases underwent an extensive evaluation for hematologic and rheumatologic diseases before the diagnosis of scurvy was made. Dietary histories eventually revealed that all 3 patients had sharply limited intake of fruits and vegetables secondary to oral aversion, and 1 patient had autism. Radiographic changes of long bones were observed in all patients. Interestingly, all patients had concomitant vitamin D deficiency. After replacement with vitamin C, all patients recovered and started to walk again with improved leg pain. These clinical manifestations and radiologic findings highlight the importance for rheumatologists to have a higher index of suspicion for scurvy in nonambulatory children.
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PMID:Scurvy revealed by difficulty walking: three cases in young children. 2484 51

We examined the degree of parental and child mental health in a community sample of children diagnosed with Attention Deficit Hyperactive Disorder and the effect on family stress prior to and during treatment using a community retrospective questionnaire study. In total 358 questionnaires were returned for analysis where 92 % of children had at least one co-morbid condition and mental health conditions in parents was common. Overall, the Family Strain Index was significantly reduced after commencement of medication (p < 0.0001), but remained higher in families where the children had either externalizing disorders or autism spectrum disorder.
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PMID:Child attention deficit hyperactive disorder co morbidities on family stress: effect of medication. 2515 8

Childhood epilepsy is associated with a range of neurobehavioural comorbidities including Attention-Deficit/Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), motor impairments and emotional problems. These difficulties frequently have a greater impact on quality of life than seizures. Pathological Demand Avoidance (PDA) is a term increasingly in use in the UK and Europe to describe behaviours associated with an extreme resistance to demands and requests and the need to be in control in social interactions. In a population-based group of 85 children with epilepsy, four (5%) were identified as displaying significant symptoms of PDA, were assessed using the Extreme Demand Avoidance Questionnaire (EDA-Q) and are described in detail. As well as significant symptoms of PDA, the four children met criteria for a range of neurobehavioural disorders; all four had cognitive impairment (IQ<85) and met DSM-IV-TR criteria for ADHD. Three, in addition, met criteria for ASD and Developmental Coordination Disorder (DCD) and two for Oppositional Defiant Disorder (ODD). All four experienced their first seizure before 5 years of age. School and parent reports indicated very significant functional impairment and management concerns, particularly with respect to complying with everyday demands. Symptoms of PDA should be considered when evaluating neurobehavioural comorbidity in childhood epilepsy.
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PMID:Pathological Demand Avoidance in a population-based cohort of children with epilepsy: four case studies. 2517 6

Maternal inflammation during pregnancy is associated with the later development of cognitive and behavioral impairment in the offspring, reminiscent of the traits of schizophrenia or autism spectrum disorders. Hippocampal long-term potentiation and long-term depression of glutamatergic synapses are respectively involved in memory formation and consolidation. In male rats, maternal inflammation with lipopolysaccharide (LPS) led to a premature loss of long-term depression, occurring between 12 and 25 postnatal days instead of after the first postnatal month, and aberrant occurrence of long-term potentiation. We hypothesized this would be related to GABAergic system impairment. Sprague Dawley rats received either LPS or isotonic saline ip on gestational day 19. Male offspring's hippocampus was studied between 12 and 25 postnatal days. Morphological and functional analyses demonstrated that prenatal LPS triggered a deficit of hippocampal GABAergic interneurons, associated with presynaptic GABAergic transmission deficiency in male offspring. Increasing ambient GABA by impairing GABA reuptake with tiagabine did not interact with the low frequency-induced long-term depression in control animals but fully prevented its impairment in male offspring of LPS-challenged dams. Tiagabine furthermore prevented the aberrant occurrence of paired-pulse triggered long-term potentiation in these rats. Deficiency in GABA seems to be central to the dysregulation of synaptic plasticity observed in juvenile in utero LPS-challenged rats. Modulating GABAergic tone may be a possible therapeutic strategy at this developmental stage.
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PMID:Tiagabine improves hippocampal long-term depression in rat pups subjected to prenatal inflammation. 2518 26

Previous research provides disparate accounts of the putative association between creativity and psychopathology, including schizotypy, psychoticism, hypomania, bipolar disorder, ADHD, and autism spectrum disorders. To examine these association, healthy, non-clinical participants completed several psychopathology-spectrum measures, often postulated to associate with creativity: the Schizotypal Personality Questionnaire, the Psychoticism scale, the Personality Inventory for DSM-5, the Hypomanic Personality Scale, the Attention Deficit/Hyperactivity Disorder scale, the Beck Depression Inventory, and the Autism-Spectrum Quotient. The goal of Study 1 was to evaluate the factor structure of these dimensional psychopathology measures and, in particular, to evaluate the case for a strong general factor(s). None of the factor solutions between 1 and 10 factors provided a strong fit with the data based on the most commonly used metrics. The goal of Study 2 was to determine whether these psychopathology scales predict, independently, two measures of creativity: 1. a measure of participants' real-world creative achievements, and 2. divergent thinking, a laboratory measure of creative cognition. After controlling for academic achievement, psychoticism and hypomania reliably predicted real-world creative achievement and divergent thinking scored with the consensual assessment technique. None of the psychopathology-spectrum scales reliably predicted divergent thinking scored with the manual scoring method. Implications for the potential links between several putative creative processes and risk factors for psychopathology are discussed.
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PMID:Do dimensional psychopathology measures relate to creative achievement or divergent thinking? 2527 19


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