Chromosome 15q11.2q13.3 Aneusomies and Autism Spectrum Disorders

2013 ◽  
Author(s):  
David J. Wu ◽  
Carolyn Schanen
Keyword(s):  
Autism Spectrum Disorders ◽  
Acrocentric Chromosome ◽  
Genetic Disorders ◽  
Structural Complexity ◽  
Autism Spectrum ◽  
Chromosome 15 ◽  
Functional Elements ◽  
Spectrum Disorders ◽  
Human Genetic Disorders

Chapter 17 discusses Chromosome 15, which is a small, satellited acrocentric chromosome that shows remarkable structural complexity in the proximal long arm, and which leads to a host of rearrangements that have been implicated in human genetic disorders. Interpretation of potential genotype–phenotype relationships for the unique and overlapping deletions and duplications that have been identified must consider key structural and functional elements that impact the complement of genes that are ultimately misexpressed.

scholarly journals On the mechanisms of the occurrence of autism spectrum disorders: a family case report

2020 ◽  
Vol 18 (2) ◽  
pp. 32-40
Author(s):  
S.A. Tyushkevich ◽  
U.A. Mamokhina ◽  
K.K. Danilina ◽  
D.S. Pereverzeva ◽  
K.R. Salimova ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Developmental Disorders ◽  
Genetic Disorders ◽  
Autism Spectrum ◽  
Chromosome 8 ◽  
Early Postnatal Ontogenesis ◽  
Genome Features ◽  
Family Case ◽  
Spectrum Disorders ◽  
Developmental Features

Currently, more than 1000 genes described in which mutations are observed in autism spectrum disorders. Neurobiological predictors have been found to presume these abnormalities in early postnatal ontogenesis. However, the mechanisms of the occurrence of these genetic abnormalities remain unclear. This is connected to the particular interest in the description of family cases in which ASD in combination with various genome features are observed. The data of a five-year comprehensive psychological and neurophysiological study of three siblings with various developmental features and genetic disorders inherited from the father are presented. The results revealed that all children showed an increase in altered chromosome regions inherited from their father. However, only in the case of an increase in repeats in chromosome 8, autism spectrum disorder was diagnosed in a child. Changes in the Y chromosome, apparently, are not associated with detected developmental disorders in two other children.

scholarly journals Minor physical anomalies in children with autism spectrum disorders

Autism ◽  
2011 ◽  
Vol 15 (6) ◽  
pp. 746-760 ◽  
Author(s):  
Kathleen Angkustsiri ◽  
Paula Krakowiak ◽  
Billur Moghaddam ◽  
Terrance Wardinsky ◽  
Jerald Gardner ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Genetic Disorders ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Diagnostic Group ◽  
Typical Development ◽  
Clinical Heterogeneity ◽  
Children With Asd ◽  
Spectrum Disorders ◽  
Minor Physical Anomalies

Objective: There is clinical heterogeneity among the autism spectrum disorders (ASD). The presence of dysmorphology (minor physical anomalies; MPAs) is one possible tool for defining a clinically relevant subset in ASD. This study employs an adaptation of Miles and Hillman’s (2000) classifications by using photographs to identify a subgroup with significant dysmorphology among children with ASD, typical development (TYP), and developmental delay (DD). Method: Children with ASD, DD, and TYP between 2 and 5 years old were part of the CHARGE Study. Pediatric specialists blinded to diagnostic group classified photographs based on the number of MPAs present: ‘dysmorphic’ if >3 and ‘nondysmorphic’ if <3 MPAs. Results: Photographs for 324 children were included. Significantly more children with ASD were classified as dysmorphic compared to TYP children ( p = .007). In children with ASD, seizures were more prevalent in those rated dysmorphic ( p = .005). Frequencies were similar between ASD versus DD ( p = .19) after removing those with known syndromes. Conclusion: Photographic assessment can be used to detect generalized dysmorphology in children who are often difficult to examine. This has clinical relevance, as children with multiple MPAs can be identified through the use of photographs and prioritized for investigation of brain abnormalities and underlying genetic disorders.

scholarly journals Abnormal Cerebellar Development in Autism Spectrum Disorders

2021 ◽  
pp. 1-10
Author(s):  
Meike E. van der Heijden ◽  
Jason S. Gill ◽  
Roy V. Sillitoe
Keyword(s):  
Autism Spectrum Disorders ◽  
Monozygotic Twins ◽  
Structural Complexity ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Cerebellar Development ◽  
The Social ◽  
Genetic Risks ◽  
Spectrum Disorders ◽  
Primary Risk Factor

Autism spectrum disorders (ASD) comprise a group of heterogeneous neurodevelopmental conditions characterized by impaired social interactions and repetitive behaviors with symptom onset in early infancy. The genetic risks for ASD have long been appreciated: concordance of ASD diagnosis may be as high as 90% for monozygotic twins and 30% for dizygotic twins, and hundreds of mutations in single genes have been associated with ASD. Nevertheless, only 5–30% of ASD cases can be explained by a known genetic cause, suggesting that genetics is not the only factor at play. More recently, several studies reported that up to 40% of infants with cerebellar hemorrhages and lesions are diagnosed with ASD. These hemorrhages are overrepresented in severely premature infants, who are born during a period of highly dynamic cerebellar development that encompasses an approximately 5-fold size expansion, an increase in structural complexity, and remarkable rearrangements of local neural circuits. The incidence of ASD-causing cerebellar hemorrhages during this window supports the hypothesis that abnormal cerebellar development may be a primary risk factor for ASD. However, the links between developmental deficits in the cerebellum and the neurological dysfunctions underlying ASD are not completely understood. Here, we discuss key processes in cerebellar development, what happens to the cerebellar circuit when development is interrupted, and how impaired cerebellar function leads to social and cognitive impairments. We explore a central question: Is cerebellar development important for the generation of the social and cognitive brain or is the cerebellum part of the social and cognitive brain itself?

scholarly journals Effects of l-Carnitine in Patients with Autism Spectrum Disorders: Review of Clinical Studies

Molecules ◽  
2019 ◽  
Vol 24 (23) ◽  
pp. 4262 ◽  
Author(s):  
Michele Malaguarnera ◽  
Omar Cauli
Keyword(s):  
Clinical Trials ◽  
Autism Spectrum Disorders ◽  
Randomized Clinical Trials ◽  
Genetic Disorders ◽  
Prospective Trial ◽  
Autism Spectrum ◽  
Amino Acid Derivative ◽  
Current Evidence ◽  
Clinical Effects ◽  
Spectrum Disorders

Carnitine is an amino acid derivative, which plays several important roles in human physiology, in the central nervous system, and for mitochondrial metabolism, in particular. Altered carnitine metabolic routes have been associated with a subgroup of patients with autism spectrum disorders (ASD) and could add to the pathophysiology associated with these disorders. We review the current evidence about the clinical effects of carnitine administration in ASD in both non-syndromic forms and ASD associated with genetic disorders. Two randomized clinical trials and one open-label prospective trial suggest that carnitine administration could be useful for treating symptoms in non-syndromic ASD. The effect of carnitine administration in ASD associated with genetic disorders is not conclusive because of a lack of clinical trials and objectives in ASD evaluation, but beneficial effects have also been reported for other comorbid disorders, such as intellectual disability and muscular strength. Side effects observed with a dose of 200 mg/kg/day consisted of gastro-intestinal symptoms and a strong, heavy skin odor. Doses of about 50–100 mg/kg/day are generally well tolerated. Further clinical trials with the identification of the subgroup of ASD patients that would benefit from carnitine administration are warranted.

Disfluency Characteristics Observed in Young Children With Autism Spectrum Disorders: A Preliminary Report

2010 ◽  
Vol 20 (2) ◽  
pp. 42-50 ◽  
Author(s):  
Laura W. Plexico ◽  
Julie E. Cleary ◽  
Ashlynn McAlpine ◽  
Allison M. Plumb
Keyword(s):  
Autism Spectrum Disorders ◽  
Young Children ◽  
Children With Autism ◽  
Descriptive Study ◽  
Autism Spectrum ◽  
Typically Developing ◽  
Children With Asd ◽  
Young Children With Autism ◽  
Spectrum Disorders ◽  
Developmental Stuttering

This descriptive study evaluates the speech disfluencies of 8 verbal children between 3 and 5 years of age with autism spectrum disorders (ASD). Speech samples were collected for each child during standardized interactions. Percentage and types of disfluencies observed during speech samples are discussed. Although they did not have a clinical diagnosis of stuttering, all of the young children with ASD in this study produced disfluencies. In addition to stuttering-like disfluencies and other typical disfluencies, the children with ASD also produced atypical disfluencies, which usually are not observed in children with typically developing speech or developmental stuttering. (Yairi & Ambrose, 2005).

Aging and Autism

2012 ◽  
Vol 17 (2) ◽  
pp. 69-75 ◽  
Author(s):  
Pamela A. Smith
Keyword(s):  
Health Care ◽  
Autism Spectrum Disorders ◽  
Patient Group ◽  
Older Patients ◽  
Geriatric Patients ◽  
Recent Literature ◽  
Communication Disorders ◽  
Autism Spectrum ◽  
Need For Support ◽  
Spectrum Disorders

In this article, I will review the available recent literature about the aging population with autism, a patient group that researchers know little about and a group that is experiencing a growing need for support from communication disorders professionals. Speech-language pathologists working with geriatric patients should become familiar with this issue, as the numbers of older patients with autism spectrum disorders is likely to increase. Our profession and our health care system must prepare to meet the challenge these patients and residents will present as they age.

Sign in / Sign up

Export Citation Format

Share Document