Search results for "PERVASIVE DEVELOPMENTAL DISORDERS"

showing 5 items of 5 documents

Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

2006

International audience; Objective: Autism is a complex, largely genetic psychiatric disorder. In the majority of cases, the cause of autism is not known, but there is strong evidence for a genetic etiology. To identify candidate genes, the physical mapping of balanced chromosomal aberrations is a powerful strategy, since several genes have been characterized in numerous disorders. In this study, the authors analyzed a balanced reciprocal translocation arising de novo in a subject with autism and mental retardation. Method: The authors performed the physical mapping of the balanced 9q23/ 10q22 translocation by fluorescent in situ hybridization experiments using bacterial artificial chromosom…

MaleCandidate geneChromosomes Artificial BacterialIndolesDNA Mutational AnalysisRegulatorChromosomal translocationautism mental retardation KCNMA1 genelarge conductance Ca(2+)-activated K(+) (BK(Ca)) channel synaptic transmission chromosomal translocationSynaptic TransmissionTranslocation GeneticPair 10CA2+-ACTIVATED K+ CHANNELSCloning MolecularChildLarge-Conductance Calcium-Activated Potassium Channel alpha SubunitsMUTATIONIn Situ HybridizationIn Situ Hybridization FluorescenceReverse Transcriptase Polymerase Chain ReactionBacterialChromosome MappingETIOLOGYPsychiatry and Mental healthArtificialKCNMA1 Gene[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]HaploinsufficiencyPsychologyChromosomes Human Pair 9POTASSIUM CHANNELSHumanPair 9Autistic Disorder; Child; Chromosome Aberrations; Chromosome Mapping; Chromosomes; Artificial; Bacterial; Chromosomes; Human; Pair 10; Chromosomes; Human; Pair 9; Cloning; Molecular; DNA Mutational Analysis; Humans; In Situ Hybridization; Fluorescence; Indoles; Intellectual Disability; Large-Conductance Calcium-Activated Potassium Channel alpha Subunits; Male; Reverse Transcriptase Polymerase Chain Reaction; Synaptic Transmission; Translocation; GeneticTranslocationNeurotransmissionChromosomesFluorescenceGeneticIntellectual DisabilitymedicineHumansAutistic DisorderRELEASEChromosome AberrationsCOMPLEXChromosomes Human Pair 10MolecularAutistic Disorder; Child; Chromosome Aberrations; Chromosome Mapping; Chromosomes Artificial Bacterial; Chromosomes Human Pair 10; Chromosomes Human Pair 9; Cloning Molecular; DNA Mutational Analysis; Humans; In Situ Hybridization Fluorescence; Indoles; Intellectual Disability; Large-Conductance Calcium-Activated Potassium Channel alpha Subunits; Male; Reverse Transcriptase Polymerase Chain Reaction; Synaptic Transmission; Translocation GeneticPERVASIVE DEVELOPMENTAL DISORDERSmedicine.diseaseDevelopmental disorderINDIVIDUALSLARGE-CONDUCTANCEAutismSCREENNeuroscience[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyCloning
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Identifying loci for the overlap between attention-deficit/hyperactivity disorder and autism spectrum disorder using a genome-wide QTL linkage approa…

2010

Contains fulltext : 88211.pdf (Publisher’s version ) (Closed access) OBJECTIVE: The genetic basis for autism spectrum disorder (ASD) symptoms in children with attention-deficit/hyperactivity disorder (ADHD) was addressed using a genome-wide linkage approach. METHOD: Participants of the International Multi-Center ADHD Genetics study comprising 1,143 probands with ADHD and 1,453 siblings were analyzed. The total and subscale scores of the Social Communication Questionnaire (SCQ) were used as quantitative traits for multipoint regression-based linkage analyses on 5,407 autosomal single-nucleotide polymorphisms applying MERLIN-regress software, both without and with inclusion of ADHD symptom sc…

MaleMedizinGenome-wide association studyComorbidityPersonality Assessment0302 clinical medicineDevelopmental and Educational PsychologyPerception and Action [DCN 1]GENETIC INFLUENCESChildGENERAL-POPULATION0303 health sciencesMental Health [NCEBP 9]CommunicationChromosome MappingPsychiatry and Mental healthcomorbidityAutism spectrum disorderFemalePsychologylinkageFunctional Neurogenomics [DCN 2]TRAITSmedicine.medical_specialtyAdolescentPsychometricsSUSCEPTIBILITY LOCIDEFICIT HYPERACTIVITY DISORDERQuantitative Trait Lociautism spectrum disorderQuantitative trait locusPolymorphism Single Nucleotidebehavioral disciplines and activitiesArticleTWIN SAMPLEGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesGenetic linkagemental disordersmedicinePervasive developmental disorderAttention deficit hyperactivity disorderADHDHumansGenetic Predisposition to DiseaseGenetic TestingSOCIAL-BEHAVIORPsychiatrySocial Behavior030304 developmental biologyChromosome AberrationsChromosomes Human Pair 15PERVASIVE DEVELOPMENTAL DISORDERSmedicine.diseaseHOMEOBOX-TRANSCRIPTION-FACTORDevelopmental disorderAttention Deficit Disorder with HyperactivityChild Development Disorders PervasiveAutismLod ScoreChromosomes Human Pair 18030217 neurology & neurosurgeryChromosomes Human Pair 16SCANGenome-Wide Association Study
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ADHD symptoms and learning behaviors in children with ASD without intellectual disability. A mediation analysis of executive functions

2018

In spite of its importance for education, the relationship between learning behaviors (LB), attention deficit hyperactivity disorder symptoms (ADHD) and executive functioning (EF) in children with autism spectrum disorder (ASD) has hardly been explored. The first objective of the present study was to compare children with ASD without intellectual disability and children with typical development (TD) on ADHD symptoms and learning behaviors: Motivation/ competence, attitude toward learning, persistence on the task, and strategy/flexibility. The second objective was to analyze the mediator role of behavioral regulation and metacognition components of EF between ADHD symptoms and learning behav…

MalePervasive Developmental DisordersAutism Spectrum Disorderlcsh:MedicineSocial SciencesFamiliesExecutive Function0302 clinical medicineLearning and MemorySociologyIntellectual disabilityMedicine and Health SciencesPsychologylcsh:ScienceChildChildrenMultidisciplinarySchools05 social sciencesExecutive functionsProfessionsNeurologyAutism spectrum disorderFemalemedicine.symptomPsychology050104 developmental & child psychologyClinical psychologyResearch ArticleMediation (statistics)MetacognitionNeuropsychiatric DisordersImpulsivitybehavioral disciplines and activitiesEducation03 medical and health sciencesHuman LearningMetacognition IndexDevelopmental NeuroscienceIntellectual Disabilitymental disordersMental Health and PsychiatrymedicineAttention deficit hyperactivity disorderLearningHumans0501 psychology and cognitive sciencesBehaviorMotivationlcsh:RCognitive PsychologyBiology and Life SciencesTeachersmedicine.diseaseAge GroupsNeurodevelopmental DisordersAttention Deficit Disorder with HyperactivityPeople and PlacesDevelopmental PsychologyCognitive Sciencelcsh:QPopulation GroupingsAdhd030217 neurology & neurosurgeryNeurosciencePLoS ONE
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The quality of life of children with pervasive developmental disorders

2009

AIM: Quality of life is increasingly the focus of attention by health, psychological and social services. Pervasive developmental disorders (PDD) are a group of psychiatric conditions in which the patient's clinical case history is characterized by disturbances in social interaction, deterioration of verbal and non-verbal communication, and presence of bizarre, limited and stereotyped activity. These disturbances affect multiple developmental areas and show up in very early stages of development, resulting in a permanent disorder. Many studies have sought to recognize causes and interventions for persons with PDD, however, they often take insufficient account of the effects these disorder c…

Pervasive Developmental Disorders Quality of life Age developmentSettore MED/39 - Neuropsichiatria Infantile
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Urinaryp-cresol is elevated in young French children with autism spectrum disorder: a replication study

2014

The aromatic compound p-cresol (4-methylphenol) has been found elevated in the urines of Italian autistic children up to 8 years of age. The present study aims at replicating these initial findings in an ethnically distinct sample and at extending them by measuring also the three components of urinary p-cresol, namely p-cresylsulfate, p-cresylglucuronate and free p-cresol. Total urinary p-cresol, p-cresylsulfate and p-cresylglucuronate were significantly elevated in 33 French autism spectrum disorder (ASD) cases compared with 33 sex- and age-matched controls (p < 0.05). This increase was limited to ASD children aged ≤8 years (p < 0.01), and not older (p = 0.17). Urinary levels of p-cresol a…

Pervasive developmental disordersMalePathologyHealth Toxicology and MutagenesisClinical BiochemistryBiochemistryClinical biochemistryCresolsorganic contaminants; neurotoxicity; Gut flora; pervasive developmental disorders; p-cresylsulfateUrinary levelsneurotoxicityChildSettore BIO/12P-cresylsulfateSettore MED/39 - Neuropsichiatria InfantileGut flora neurotoxicity organic contaminants p-cresylsulfate pervasive developmental disordersHealthAutism spectrum disorderChild Preschoolp-cresylsulfateBiomarker (medicine)FemaleFrancemedicine.medical_specialtyChild Development DisordersAdolescentUrinary systemGlucuronatesSulfuric Acid EstersOrganic contaminantsGut flora; Neurotoxicity; Organic contaminants; p-cresylsulfate; Pervasive developmental disorders; Adolescent; Case-Control Studies; Child; Child Development Disorders; Pervasive; Child; Preschool; Cresols; Female; France; Glucuronates; Humans; Male; Sulfuric Acid Esters; Biochemistry; Clinical Biochemistry; Health; Toxicology and MutagenesisInternal medicineparasitic diseasesNeurotoxicitymedicineHumansToxicology and MutagenesisPreschoolSettore BIO/10 - BIOCHIMICAPervasiveGut florabusiness.industryCase-control studypervasive developmental disordersmedicine.diseaseChild Development Disorders PervasiveCase-Control StudiesAutismorganic contaminantsGut flora; Neurotoxicity; Organic contaminants; p-cresylsulfate; Pervasive developmental disorders; Adolescent; Case-Control Studies; Child; Child Development Disorders Pervasive; Child Preschool; Cresols; Female; France; Glucuronates; Humans; Male; Sulfuric Acid Esters; Biochemistry; Clinical Biochemistry; Health Toxicology and MutagenesisbusinessBiomarkers
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