CYTOGENETICS OF AUTISM
- Psychology, Medicine
Review of literature reveals abnoramlity in chromosome 15 to be the most frequent occurrence on karyotyping of patient with this disorder, thought to be caused by genetic and environmental factors.
Autism spectrum disorders: The quest for genetic syndromes
- Medicine, PsychologyAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
This review paper critically examines the prevalence and characteristics of the main genetic syndromes, as well as the possible mechanisms for their association with ASD.
Medical conditions in autism spectrum disorders
- Medicine, BiologyJournal of Neurodevelopmental Disorders
Investigations into the causal mechanisms underlying the association between conditions such as tuberous sclerosis, Fragile X and chromosome 15 abnormalities are beginning to cast light on the molecular and neurobiological pathways involved in the pathophysiology of ASD.
Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach
- Medicine, PsychologyDialogues in clinical neuroscience
The syndromic versus nonsyndromic designation should ultimately be replaced by classification of ASD according to its genetic etiology, which will inform about the associated spectrum and penetrance of neurobehavioral and somatic manifestations.
Genetic causes of developmental disorders.
- Medicine, BiologyCurrent opinion in neurology
In addition to the disorders with known genetic cause that are associated with intellectual disability, autism and ADHD, an increasing number of novel recurrent structural variants are identified in association with these developmental disorders.
The Genetics of Autism Spectrum Disorders
- Psychology, Medicine
Three approaches to identifying genetic factors that contribute to the pathogenesis of ASDs are reviewed: common variants and genome-wide association studies (GWAS); 2) rare variants and copy number variation (CNV) studies, and 3) familial forms of autism and the role of next-generation sequencing (NGS) methods.
The genetics of autism: key issues, recent findings, and clinical implications.
- BiologyThe Psychiatric clinics of North America
Neurobiología del Autismo
- Psychology, Biology
A deeper neuropsychological study of autism is proposed to improve therapeutic approaches for these patients and is consistent with the pathogenetic mechanisms identified in this population.
Autism spectrum disorders: an updated guide for genetic counseling
- Biology, MedicineEinstein
The current view of the genetic architecture of autism spectrum disorder is discussed, and the main associated genetic alterations, the available molecular tests and the key aspects for the genetic counseling of these families are listed.
The Genetic Architecture of Autism and Related Conditions
- Psychology, Medicine
Neither developmental delay nor cognitive impairment are required for an ASD diagnosis and there are several behaviors and co-morbid symptoms that relate to each of the three classical impairments.
SHOWING 1-10 OF 274 REFERENCES
Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification
- Medicine, PsychologyJournal of autism and developmental disorders
The concept of “syndromal autism”—autism associated with other clinical signs—should be promoted because it may help to distinguish patients who warrant a multidisciplinary approach and further investigation.
The genetics of autism.
- Medicine, BiologyPediatrics
Significant evidence is found for multiple interacting genetic factors as the main causative determinants of autism and for interactions between multiple genes cause "idiopathic" autism but that epigenetic factors and exposure to environmental modifiers may contribute to variable expression of autism-related traits.
Molecular Cytogenetics of Autism
- Biology, Medicine
It is hypothesized that there might be at least three types of autism susceptibility genes/mutations that can be specific to an individual patient or family, in a genetically isolated sub-population and a common factor shared amongst different populations.
Should Autistic Children Be Evaluated for Mitochondrial Disorders?
- Medicine, PsychologyJournal of child neurology
Clinicians should be careful in diagnosing a mitochondrial disorder in an autistic child because it has important implications for accurate genetic counseling, prognosis, and therapy.
Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review
- Medicine, PsychologyInternational Journal of Developmental Neuroscience
Autism in tuberous sclerosis.
- Medicine, PsychologyEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism
- Medicine, BiologyJournal of medical genetics
In a group of 525 subjects with autism who were karyotyped and had no recognised underlying medical condition, four were found to carry such a de novo chromosomal aberration, and the identification of genes involved in autism is expected to increase the understanding of the pathogenesis of this disorder.
Genetic Susceptibility to Neurodevelopmental Disorders
- Psychology, MedicineJournal of child neurology
The principles underlying these complementary approaches toCharacterization of the genetic component of susceptibility to common neurodevelopmental disorders at a molecular level should improve classification, elucidate fundamental neurobiologic mechanisms of disease, and suggest novel approaches to treatment.