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

The potential for response variability to serve as an endophenotype for attention deficit hyperactivity disorders (ADHD) rests, in part, upon the development of reliable and valid methods to decompose variability. This study investigated the specificity of intra-individual variability (IIV) in 53 children with ADHD by comparing them with 25 children with high functioning autism (HFA), 32 children with autism spectrum disorders (ASD), who also were comorbid for ADHD (ASD+ADHD), 21 children with Tourette's syndrome (TS), and 85 typically developing controls (TD). In order to decompose the variability of the reaction times, we applied three distinct techniques: ex-Gaussian modeling, intra-individual variability analysis, and spectral analysis. Our data revealed that children with HFA and children with ASD+ADHD exhibited substantial IIV compared with ADHD and TD children. We argue that: (1) all three methods lead to a single consistent conclusion; (2) careful documentation of the analytic steps used in spectral analysis is mandatory for comparison between studies; (3) the presence of comorbidities may constitute an important factor in the observed response variability in previous studies of ADHD.
 ...
PMID:Intra-individual variability in ADHD, autism spectrum disorders and Tourette's syndrome. 1861 77

The neural substrates of eye movement measures are largely known. Therefore, measurement of eye movements in psychiatric disorders may provide insight into the underlying neuropathology of these disorders. Visually guided saccades, antisaccades, memory guided saccades, and smooth pursuit eye movements will be reviewed in various childhood psychiatric disorders. The four aims of this review are (1) to give a thorough overview of eye movement studies in a wide array of psychiatric disorders occurring during childhood and adolescence (attention-deficit/hyperactivity disorder, oppositional deviant disorder and conduct disorder, autism spectrum disorders, reading disorder, childhood-onset schizophrenia, Tourette's syndrome, obsessive compulsive disorder, and anxiety and depression), (2) to discuss the specificity and overlap of eye movement findings across disorders and paradigms, (3) to discuss the developmental aspects of eye movement abnormalities in childhood and adolescence psychiatric disorders, and (4) to present suggestions for future research. In order to make this review of interest to a broad audience, attention will be given to the clinical manifestation of the disorders and the theoretical background of the eye movement paradigms.
 ...
PMID:A review on eye movement studies in childhood and adolescent psychiatry. 1883 79

Children with CHARGE syndrome frequently develop moderate to severe behavior difficulties and are often diagnosed with obsessive-compulsive disorder, attention deficit disorder, Tourette syndrome, and autism. Anecdotal reports have indicated that sleep is also affected. However, the prevalence and types of sleep disturbance have not been identified. This study investigated sleep disturbances in 87 children with CHARGE syndrome, aged 6 to 18 years (mean 11y, SD 3y 8mo). There were 52 males and 35 females represented. Instruments included measures of sleep (Sleep Disturbances Scale for Children [SDSC]), behavior (Developmental Behaviour Checklist [DBC]), and carer well-being (Malaise Inventory). On the SDSC, 57.5% received scores considered significant for sleep disturbances, with disorders of initiating and maintaining sleep, sleep breathing, and sleep-wake transition being the most common. The SDSC was significantly correlated with the DBC (p=0.010) and the Malaise Inventory (p=0.003). Regression analysis found that both problem behavior and sleep disturbances contributed to the prediction of scores on the Malaise Inventory. Being both deaf and blind (p=0.001), experiencing frequent middle-ear infections (p=0.015), and starting to walk at an older age (p=0.007) were associated with more sleep disturbance. Craniofacial anomalies were not. The study highlights the importance of addressing the sleep difficulties associated with CHARGE syndrome relating both to airway management and to disorders of initiating sleep.
 ...
PMID:Sleep disturbances in CHARGE syndrome: types and relationships with behavior and caregiver well-being. 1901 33

In a plural and multidisciplinary process of care, it would be fruitful to ally complementary, pharmacologic and psychodynamic approaches. We have done a review of the literature on the effectiveness and the cautions for prescription of risperidone, a second generation antipsychotic drug. Risperidone has proved helpful in treating children and adolescents with autism spectrum, conduct and bipolar disorders, Tourette's syndrome, and schizophrenia. The principal side effects are sedation, weight gain, and metabolic disturbances. Extrapyramidal symptoms, QTc prolongation, and hyperprolactemia with clinical signs are infrequent and not clinically significant. The benefit/risk is clearly in favor of the prescription when it is accompanied with the precautions and with the adequate monitoring.
 ...
PMID:[Risperidone use in child and adolescent psychiatric patients]. 1915 6

Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable disorder, but specific genetic factors underlying risk remain elusive. To assess the role of structural variation in ADHD, we identified 222 inherited copy number variations (CNVs) within 335 ADHD patients and their parents that were not detected in 2026 unrelated healthy individuals. Although no excess CNVs, either deletions or duplications, were found in the ADHD cohort relative to controls, the inherited rare CNV-associated gene set was significantly enriched for genes reported as candidates in studies of autism, schizophrenia and Tourette syndrome, including A2BP1, AUTS2, CNTNAP2 and IMMP2L. The ADHD CNV gene set was also significantly enriched for genes known to be important for psychological and neurological functions, including learning, behavior, synaptic transmission and central nervous system development. Four independent deletions were located within the protein tyrosine phosphatase gene, PTPRD, recently implicated as a candidate gene for restless legs syndrome, which frequently presents with ADHD. A deletion within the glutamate receptor gene, GRM5, was found in an affected parent and all three affected offspring whose ADHD phenotypes closely resembled those of the GRM5 null mouse. Together, these results suggest that rare inherited structural variations play an important role in ADHD development and indicate a set of putative candidate genes for further study in the etiology of ADHD.
 ...
PMID:Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. 1954 59

Patients with autism spectrum disorder (ASD) frequently harbour chromosome rearrangements and segmental aneuploidies, which allow us to identify candidate genes. In a boy with mild facial dysmorphisms, speech delay and ASD, we reconstructed by karyotyping, FISH and SNP array-based segmental aneuploidy profiling a highly complex chromosomal rearrangement involving at least three breaks in chromosome 1 and seven breaks in chromosome 7. Chromosome banding revealed an inversion of region 7q32.1-7q35 on the derivative chromosome 7. FISH with region-specific BACs mapped both inversion breakpoints and revealed additional breaks and structural changes in the CNTNAP2 gene. Two gene segments were transposed and inserted into the 1q31.2 region, while the CNTNAP2 segment between the two transposed parts as well as intron 13 to the 5-UTR were retained on the der(7). SNP array analysis revealed an additional de novo deletion encompassing the distal part of intron1 and exon 2 of CNTNAP2, which contains FOXP2 binding sites. Second, we found another de novo deletion on chromosome 1q41, containing 15 annotated genes, including KCTD3 and USH2A. Disruptions of the CNTNAP2 gene have been associated with ASD and with Gilles de la Tourette syndrome (GTS). Comparison of disruptions of CNTNAP2 in patients with GTS and ASD suggests that large proximal disruptions result in either GTS or ASD, while relatively small distal disruptions may be phenotypically neutral. For full-blown ASD to develop, a proximal disruption of CNTNAP2 may have to occur concomitantly with additional genome mutations such as hemizygous deletions of the KCTD3 and USH2A genes.
 ...
PMID:Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. 1958 87

The research planning agenda for DSM-V examined possible similarities in phenomenology, comorbidity, familial and genetic features, brain circuitry, and treatment response between obsessive-compulsive disorder (OCD) and several related disorders that are characterized by repetitive thoughts or behaviors. Such data support a re-examination of the DSM-IV-TR classification of OCD and the anxiety disorders, with possible inclusion of a group of obsessive-compulsive spectrum disorders (OCSDs) in DSM-V. Various disorders were systematically examined for inclusion in such a grouping, and later a smaller number were determined to meet threshold criteria for inclusion in the OCSDs. The disorders that were originally examined included OCD, obsessive-compulsive personality disorder (OCPD), Tourette's syndrome (TS) and other tic disorders, Sydenham's chorea, Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS), trichotillomania (TTM), body dysmorphic disorder (BDD), autism, eating disorders, Huntington's and Parkinson's disease, impulse control disorders, as well as substance and behavioral addictions. Certain disorders such as BDD, OCPD, TS, and TTM share many commonalities with OCD in phenomenology, comorbidity, familial and genetic features, brain circuitry, and treatment response. Other disorders, such as the impulse control disorders (ICDs) share some common features with OCD, but also differ in many ways as well. The articles presented in this issue of Psychiatry Research are a result of this international collaboration, which examined diagnostic and classification issues of OCSDs for DSM-V in a conference titled "The Future of Psychiatric Diagnosis: Refining the Research Agenda: Obsessive-Compulsive Behavior Spectrum" held in June 2006 at the American Psychiatric Association's headquarters in Arlington, VA.
 ...
PMID:Cross-cutting issues and future directions for the OCD spectrum. 1981 39

Potential contributions of environmental chemicals and conditions to the etiology of Autism Spectrum Disorders are the subject of considerable current research and speculation. The present paper describes the results of a study undertaken as part of a larger project devoted to the connection between properties of the indoor environment and asthma and allergy in young Swedish children. The larger project, The Dampness in Buildings and Health (DBH) Study, began in the year 2000 with a questionnaire distributed to parents of all children 1-6 years of age in one Swedish county (DBH-I). A second, follow-up questionnaire (DBH-III) was distributed in 2005. The original survey collected information about the child, the family situation, practices such as smoking, allergic symptoms, type of residence, moisture-related problems, and type of flooring material, which included polyvinyl chloride (PVC). The 2005 survey, based on the same children, now 6-8 years of age, also asked if, during the intervening period, the child had been diagnosed with Autism, Asperger's syndrome, or Tourette's syndrome. From a total of 4779 eligible children, 72 (60 boys, 12 girls) were identified with parentally reported autism spectrum disorder. A random sample of 10 such families confirmed that the diagnoses had been made by medical professionals, in accordance with the Swedish system for monitoring children's health. An analysis of the associations between indoor environmental variables in 2000 as well as other background factors and the ASD diagnosis indicated five statistically significant variables: (1) maternal smoking; (2) male sex; (3) economic problems in the family; (4) condensation on windows, a proxy for low ventilation rate in the home; (5) PVC flooring, especially in the parents' bedroom. In addition, airway symptoms of wheezing and physician-diagnosed asthma in the baseline investigation (2000) were associated with ASD 5 years later. Results from the second phase of the DBH-study (DBH-II) indicate PVC flooring to be one important source of airborne phthalates indoors, and that asthma and allergy prevalence are associated with phthalate concentrations in settled dust in the children's bedroom. Because these associations are among the few linking ASD with environmental variables, they warrant further and more extensive exploration.
 ...
PMID:Associations between indoor environmental factors and parental-reported autistic spectrum disorders in children 6-8 years of age. 1982 63

The aim of the current study is to provide a short overview on autism, attention deficit hyperactivity disorder (ADHD) and Tourette syndrome. According to international data, the prevalence of autism is 2-60/10000 and the symptoms persist during the entire life; the prevalence of ADHD among children and adolescents is 2,4-12,0% and the symptoms cause problem in 30-50% in adults as well; while the prevalence of tic disorder is 1-6,6% among children and adolescents and the symptoms persist in 10% in adulthood. According to Hungarian data, these disorders are relatively rare in adult psychiatric practice. Presenting case reports of adults with autism, ADHD and Tourette syndrome, we would like to demonstrate the symptoms, treatment possibilities of these disorders and how they can influence the patients' quality of life.
 ...
PMID:[Child-adolescent psychiatry to adult psychiatry: can we find those disorders in adulthood which are typically diagnosed in childhood?]. 2012 94

The differential formation of excitatory (glutamate-mediated) and inhibitory (GABA-mediated) synapses is a critical step for the proper functioning of the brain. An imbalance in these synapses may lead to various neurological disorders such as autism, schizophrenia, Tourette's syndrome and epilepsy. Synapses are formed through communication between the appropriate synaptic partners. However, the molecular mechanisms that mediate the formation of specific synaptic types are not known. Here we show that two members of the fibroblast growth factor (FGF) family, FGF22 and FGF7, promote the organization of excitatory and inhibitory presynaptic terminals, respectively, as target-derived presynaptic organizers. FGF22 and FGF7 are expressed by CA3 pyramidal neurons in the hippocampus. The differentiation of excitatory or inhibitory nerve terminals on dendrites of CA3 pyramidal neurons is specifically impaired in mutants lacking FGF22 or FGF7. These presynaptic defects are rescued by postsynaptic expression of the appropriate FGF. FGF22-deficient mice are resistant to epileptic seizures, and FGF7-deficient mice are prone to them, as expected from the alterations in excitatory/inhibitory balance. Differential effects of FGF22 and FGF7 involve both their distinct synaptic localizations and their use of different signalling pathways. These results demonstrate that specific FGFs act as target-derived presynaptic organizers and help to organize specific presynaptic terminals in the mammalian brain.
 ...
PMID:Distinct FGFs promote differentiation of excitatory and inhibitory synapses. 2050 69


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>