Mental Retardation

Inclusão escolar e deficiência mental: análise da interação social entre companheiros

Special Education / Social Interaction / Special Educational Needs / Mental Retardation

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Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation

Genetics / Pathology / Cognitive Science / Skeletal muscle biology / Magnetic Resonance Imaging / Epilepsy / Histology / Immunohistochemistry / Creatine / Magnetic Resonance Spectroscopy / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Microcephaly / Female / Muscular Dystrophies / Male / Muscles / Infant / Developmental disabilities / Cataract / D-Aspartic Acid / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Spectrum / Fluorescent Antibody Technique / Family Health / Facies / Adult / Neuromuscular Disorders / Time Factors / Consanguinity / Nuclear Family / Neuronal Migration / Neuropediatrics / Dystrophin / X ray Computed Tomography / Choline / Nuclear Magnetic Resonance Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Nino / Myelin Sheath / Magnetic resonance image / Laminin / Congenital muscular dystrophy / Child preschool / Epilepsy / Histology / Immunohistochemistry / Creatine / Magnetic Resonance Spectroscopy / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Microcephaly / Female / Muscular Dystrophies / Male / Muscles / Infant / Developmental disabilities / Cataract / D-Aspartic Acid / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Spectrum / Fluorescent Antibody Technique / Family Health / Facies / Adult / Neuromuscular Disorders / Time Factors / Consanguinity / Nuclear Family / Neuronal Migration / Neuropediatrics / Dystrophin / X ray Computed Tomography / Choline / Nuclear Magnetic Resonance Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Nino / Myelin Sheath / Magnetic resonance image / Laminin / Congenital muscular dystrophy / Child preschool

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Deleción subtelomérica 9qter: definición del síndrome y origen parental en 2 pacientes

Mental Retardation / Medicina Clinica

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Does a peculiar EEG pattern exist also for FRAXE mental retardation?

Engineering / Genetics / Electroencephalography / Obsessive-Compulsive Disorder / Molecular Genetics / Intellectual Disability / Mental Retardation / Brain Mapping / Brain / Humans / Child / Clinical / Male / Reading and writing / Proteins / Clinical Neurophysiology / Somatosensory Evoked Potentials / Developmental delay / Median Nerve / Intellectual Disability / Mental Retardation / Brain Mapping / Brain / Humans / Child / Clinical / Male / Reading and writing / Proteins / Clinical Neurophysiology / Somatosensory Evoked Potentials / Developmental delay / Median Nerve

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Cortical dysplasia, temporal atrophy, mental retardation, dysmorphic facies, and partial epilepsy: An EEG and dynamic susceptibility contrast (DSC) MRI study in a new possible genetic syndrome

Genetics / Neuroscience / Cognitive Science / Magnetic Resonance Imaging / Electroencephalography / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe

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Clinical Case Report: CORTICAL DYSPLASIA, TEMPORAL ATROPHY, MENTAL RETARDATION, DYSMORPHIC FACIES, AND PARTIAL EPILEPSY: AN EEG AND DYNAMIC SUSCEPTIBILITY CONTRAST (DSC) MRI STUDY IN A NEW POSSIBLE GENETIC SYNDROME

Genetics / Neuroscience / Cognitive Science / Magnetic Resonance Imaging / Electroencephalography / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe

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Cortical dysplasia, temporal atrophy, mental retardation, dysmorphic facies, and partial epilepsy: An EEG and dynamic susceptibility contrast (DSC) MRI study in a new possible genetic syndrome

Genetics / Neuroscience / Cognitive Science / Magnetic Resonance Imaging / Electroencephalography / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe

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Periventricular Leukomalacia

Magnetic Resonance Imaging / Cerebral Palsy / Visual acuity / Mental Retardation / Brain / Humans / Magnetic Resonance / Visual System / Visual Impairment / Eye Movements / Differential Diagnosis / Newborn Infant / Spectrum / Optometry and Ophthalmology / Adverse Event / Eye Movement / Vision Disorders / Prognosis / Optic Disk / Visual Fields / Visual Field / Preterm Birth / Magnetic resonance image / Humans / Magnetic Resonance / Visual System / Visual Impairment / Eye Movements / Differential Diagnosis / Newborn Infant / Spectrum / Optometry and Ophthalmology / Adverse Event / Eye Movement / Vision Disorders / Prognosis / Optic Disk / Visual Fields / Visual Field / Preterm Birth / Magnetic resonance image

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Large neutral amino acids supplementation in phenylketonuric patients

Mental Retardation / Humans / Blood brain barrier / Phenylketonuria / Dietary Supplements / Clinical Sciences / Long Term Study / Clinical Sciences / Long Term Study

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Succinic Semialdehyde Dehydrogenase Deficiency: GABAB receptor-mediated function

Cognitive Science / Genetic counseling / Mental Retardation / Brain / Mice / Animals / Animal Model / Differential Diagnosis / Synaptic Transmission / Time Dependent / Protein Expression / Autosomal Recessive / Brain Chemistry / Neurosciences / Binding Site / Gamma-Aminobutyric Acid / Knock Out Mice / Animals / Animal Model / Differential Diagnosis / Synaptic Transmission / Time Dependent / Protein Expression / Autosomal Recessive / Brain Chemistry / Neurosciences / Binding Site / Gamma-Aminobutyric Acid / Knock Out Mice

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Familial deletion 18p syndrome: case report

Genetics / Intellectual Disability / Genetic counseling / Mental Retardation / Case Report / Humans / Child / Female / Karyotyping / Cognitive Performance / Clinical Sciences / Cognitive impairment / Short stature / Intelligence tests / Syndrome / Humans / Child / Female / Karyotyping / Cognitive Performance / Clinical Sciences / Cognitive impairment / Short stature / Intelligence tests / Syndrome

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Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia

Quality of life / Brain development / Mental Retardation / Brain / Humans / Child / Female / Enzyme / Lancet / Brain atrophy / White matter / Valproic Acid / Seizures / Autosomal Recessive / Sodium Benzoate / Dextromethorphan / Breath Test / DNA sequence / Child / Female / Enzyme / Lancet / Brain atrophy / White matter / Valproic Acid / Seizures / Autosomal Recessive / Sodium Benzoate / Dextromethorphan / Breath Test / DNA sequence

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Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

Genetics / Adolescent / Sweden / Mental Retardation / Humans / Child / Mutation / Female / Nucleic acid hybridization / Male / Facial Features / Proteins / Phenotype / European / Congenital Anomalies / Cornelia de Lange Syndrome / Developmental delay / Upper Limb / Cell Cycle Proteins / Chromosomal Instability / Chromosomal abnormalities / Array Comparative Genomic Hybridization / Cohort Studies / Child / Mutation / Female / Nucleic acid hybridization / Male / Facial Features / Proteins / Phenotype / European / Congenital Anomalies / Cornelia de Lange Syndrome / Developmental delay / Upper Limb / Cell Cycle Proteins / Chromosomal Instability / Chromosomal abnormalities / Array Comparative Genomic Hybridization / Cohort Studies

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Síndrome de Prader Willi: estudio de 77 pacientes

Genetics / Algorithms / Adolescent / Mental Retardation / Humans / Child / Female / Male / Young Adult / Infant / Prader-Willi Syndrome / Adult / Developmental delay / Medicina Clinica / Cross Sectional Studies / Child / Female / Male / Young Adult / Infant / Prader-Willi Syndrome / Adult / Developmental delay / Medicina Clinica / Cross Sectional Studies

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Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation

Pathology / Cognitive Science / Skeletal muscle biology / Magnetic Resonance Imaging / Epilepsy / Histology / Immunohistochemistry / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Female / Muscular Dystrophies / Male / Muscles / Infant / Cataract / Central Nervous System / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Fluorescent Antibody Technique / Skeletal Muscle / Adult / Neuromuscular Disorders / Time Factors / Scoliosis / Consanguinity / Neuronal Migration / Neuropediatrics / Torticollis / Dystrophin / X ray Computed Tomography / Nuclear Magnetic Resonance Imaging / Mr Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Occipital Lobe / Nino / Myelin Sheath / Histology / Immunohistochemistry / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Female / Muscular Dystrophies / Male / Muscles / Infant / Cataract / Central Nervous System / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Fluorescent Antibody Technique / Skeletal Muscle / Adult / Neuromuscular Disorders / Time Factors / Scoliosis / Consanguinity / Neuronal Migration / Neuropediatrics / Torticollis / Dystrophin / X ray Computed Tomography / Nuclear Magnetic Resonance Imaging / Mr Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Occipital Lobe / Nino / Myelin Sheath

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Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome)

Rape / Magnetic Resonance Imaging / Face / Brain development / Mental Retardation / Brain / Pregnancy / Humans / Corpus Callosum / Cerebellum / Female / Thorax / Male / Infant / Differential Diagnosis / Newborn Infant / Adult / Consanguinity / X ray Computed Tomography / Syndrome / Brain / Pregnancy / Humans / Corpus Callosum / Cerebellum / Female / Thorax / Male / Infant / Differential Diagnosis / Newborn Infant / Adult / Consanguinity / X ray Computed Tomography / Syndrome

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