Developmental disabilities

Funcionamiento intelectual límite: guía de consenso y buenas prácticas

Special Education / Intelligence / Adolescent / Intellectual Disability / Comorbidity / Humans / Child / Supported Employment / Child Psychology / Child and Adolescent Psychology / Young Adult / Infant / Developmental disabilities / Prevalence / Adult / Learning Disorders / Intelligence tests / Early Diagnosis / Community integration / Humans / Child / Supported Employment / Child Psychology / Child and Adolescent Psychology / Young Adult / Infant / Developmental disabilities / Prevalence / Adult / Learning Disorders / Intelligence tests / Early Diagnosis / Community integration

Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay

Humans / Male / Infant / Developmental disabilities / Clinical Sciences / Developmental delay / Autosomal Recessive / Developmental delay / Autosomal Recessive

Pure interstitial dup(6)(q22.31q22.31) ¿ a case report

Humans / Male / Developmental disabilities / Gene Duplication / Pedigree / Phenotype / Trisomy 21 / Consanguinity / Phenotype / Trisomy 21 / Consanguinity

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder

Clinical Trial / Cerebral Palsy / Adolescent / Movement disorders / Brain / Humans / Child / Circadian Rhythm / Female / Male / Developmental disabilities / Levodopa / Cognitive impairment / Genotype / Cognitive Function / Diurnal Variation / Young Children / Autosomal Recessive / Cognition disorders / Motor activity / Humans / Child / Circadian Rhythm / Female / Male / Developmental disabilities / Levodopa / Cognitive impairment / Genotype / Cognitive Function / Diurnal Variation / Young Children / Autosomal Recessive / Cognition disorders / Motor activity

Prevalencia de personas con discapacidad involucradas en intervenciones de la Guardia Civil

Psychology / Developmental disabilities / Public health systems and services research

La (nula) importancia de la experiencia policial en la evaluación intuitiva de la credibilidad de personas con discapacidad intelectual

Developmental disabilities

Special Issue on Developmental Delay

Cerebral Palsy / Language disorders / Humans / Infant / Developmental disabilities / Early Diagnosis

Trisomy 16p: A longitudinal profile and photo essay

Genetics / Adolescent / Humans / Child / Microcephaly / Male / Infant / Developmental disabilities / Follow-up studies / Karyotyping / Clinical Sciences / Newborn Infant / Trisomy 21 / Adult / Male / Infant / Developmental disabilities / Follow-up studies / Karyotyping / Clinical Sciences / Newborn Infant / Trisomy 21 / Adult

Methylmalonic Semialdehyde Dehydrogenase Deficiency: Psychomotor Delay and Methylmalonic Aciduria without Metabolic Decompensation

Humans / Male / Infant / Developmental disabilities / Clinical Sciences / Metabolic Acidosis / Developmental delay / Psychomotor Disorders / Metabolic Acidosis / Developmental delay / Psychomotor Disorders

Tamiz metabólico neonatal por espectrometría de masas en tándem: dos años de experiencia en Nuevo León, México

Prevention / Mental Retardation / Inborn errors of metabolism / Developmental disabilities / Public health systems and services research

Array comparative genomic hybridization in global developmental delay

Genetics / Humans / Nucleic acid hybridization / Developmental disabilities / Gene Dosage / Phenotype / Clinical Sciences / Parents / Family Health / Developmental delay / Neurosciences / Array Comparative Genomic Hybridization / Phenotype / Clinical Sciences / Parents / Family Health / Developmental delay / Neurosciences / Array Comparative Genomic Hybridization

Neurodiversidad y alteraciones del desarrollo

Developmental Psychology / Neurodiversity / Developmental disabilities

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

Genetics / Family / Cystic Fibrosis / Humans / Child / Systemic Lupus Erythematosus / Mutation / Variability / Haplotypes / Female / Male / Cohort Study / Developmental disabilities / American / Gene / Pedigree / Phenotype / Clinical Sciences / Gen / Spectrum / Deficiency / Prenatal Diagnosis / Amino Acid Sequence / Base Sequence / Developmental delay / Deficit / Neurosciences / Founder Effect / Cohort Studies / Molecular Sequence Data / Systemic Lupus Erythematosus / Mutation / Variability / Haplotypes / Female / Male / Cohort Study / Developmental disabilities / American / Gene / Pedigree / Phenotype / Clinical Sciences / Gen / Spectrum / Deficiency / Prenatal Diagnosis / Amino Acid Sequence / Base Sequence / Developmental delay / Deficit / Neurosciences / Founder Effect / Cohort Studies / Molecular Sequence Data

Distal monosomy 18p/distal trisomy 20p?A recognizable facial phenotype?

Genetics / Molecular Biology / Face / Cytogenetics / Humans / Male / Developmental disabilities / Distal / American / Phenotype / Clinical Sciences / Trisomy 21 / Facies / Nino / Male / Developmental disabilities / Distal / American / Phenotype / Clinical Sciences / Trisomy 21 / Facies / Nino

Distal monosomy 18p/distal trisomy 20p—A recognizable facial phenotype?

Genetics / Molecular Biology / Face / Cytogenetics / Humans / Male / Developmental disabilities / Distal / American / Phenotype / Clinical Sciences / Trisomy 21 / Facies / Nino / Male / Developmental disabilities / Distal / American / Phenotype / Clinical Sciences / Trisomy 21 / Facies / Nino

Aplasia cutis congenita, polythelia, microcephaly, and developmental delay: A unique expression of polytopic field defect involving possible ?paradominant? inheritance?

Genetics / Humans / Child / Microcephaly / Developmental disabilities / Clinical Sciences / Part / A / Syndrome / Ectodermal Dysplasia / Scalp / Medical / Clinical Sciences / Part / A / Syndrome / Ectodermal Dysplasia / Scalp / Medical

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