Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD)
Autism spectrum disorder (ASD) consists of a genetically heterogenous group of neurobehavioral disorders characterized by impairment in three behavioral domains including communication, social interaction, and stereotypic repetitive behaviors. ASD affects more than 1% of children in Western societie...
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-07-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/21/13/4726 |
| _version_ | 1797563520129171456 |
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| author | Ann Genovese Merlin G. Butler |
| author_facet | Ann Genovese Merlin G. Butler |
| author_sort | Ann Genovese |
| collection | DOAJ |
| description | Autism spectrum disorder (ASD) consists of a genetically heterogenous group of neurobehavioral disorders characterized by impairment in three behavioral domains including communication, social interaction, and stereotypic repetitive behaviors. ASD affects more than 1% of children in Western societies, with diagnoses on the rise due to improved recognition, screening, clinical assessment, and diagnostic testing. We reviewed the role of genetic and metabolic factors which contribute to the causation of ASD with the use of new genetic technology. Up to 40 percent of individuals with ASD are now diagnosed with genetic syndromes or have chromosomal abnormalities including small DNA deletions or duplications, single gene conditions, or gene variants and metabolic disturbances with mitochondrial dysfunction. Although the heritability estimate for ASD is between 70 and 90%, there is a lower molecular diagnostic yield than anticipated. A likely explanation may relate to multifactorial causation with etiological heterogeneity and hundreds of genes involved with a complex interplay between inheritance and environmental factors influenced by epigenetics and capabilities to identify causative genes and their variants for ASD. Behavioral and psychiatric correlates, diagnosis and genetic evaluation with testing are discussed along with psychiatric treatment approaches and pharmacogenetics for selection of medication to treat challenging behaviors or comorbidities commonly seen in ASD. We emphasize prioritizing treatment based on targeted symptoms for individuals with ASD, as treatment will vary from patient to patient based on diagnosis, comorbidities, causation, and symptom severity. |
| first_indexed | 2024-03-10T18:43:50Z |
| format | Article |
| id | doaj.art-b1bf462993ec4edd8f47c7a7056eb378 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T18:43:50Z |
| publishDate | 2020-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-b1bf462993ec4edd8f47c7a7056eb3782023-11-20T05:39:40ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672020-07-012113472610.3390/ijms21134726Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD)Ann Genovese0Merlin G. Butler1Department of Psychiatry & Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS 66160, USADepartment of Psychiatry & Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS 66160, USAAutism spectrum disorder (ASD) consists of a genetically heterogenous group of neurobehavioral disorders characterized by impairment in three behavioral domains including communication, social interaction, and stereotypic repetitive behaviors. ASD affects more than 1% of children in Western societies, with diagnoses on the rise due to improved recognition, screening, clinical assessment, and diagnostic testing. We reviewed the role of genetic and metabolic factors which contribute to the causation of ASD with the use of new genetic technology. Up to 40 percent of individuals with ASD are now diagnosed with genetic syndromes or have chromosomal abnormalities including small DNA deletions or duplications, single gene conditions, or gene variants and metabolic disturbances with mitochondrial dysfunction. Although the heritability estimate for ASD is between 70 and 90%, there is a lower molecular diagnostic yield than anticipated. A likely explanation may relate to multifactorial causation with etiological heterogeneity and hundreds of genes involved with a complex interplay between inheritance and environmental factors influenced by epigenetics and capabilities to identify causative genes and their variants for ASD. Behavioral and psychiatric correlates, diagnosis and genetic evaluation with testing are discussed along with psychiatric treatment approaches and pharmacogenetics for selection of medication to treat challenging behaviors or comorbidities commonly seen in ASD. We emphasize prioritizing treatment based on targeted symptoms for individuals with ASD, as treatment will vary from patient to patient based on diagnosis, comorbidities, causation, and symptom severity.https://www.mdpi.com/1422-0067/21/13/4726autismASDgeneticsheterogeneitysyndromesassessment |
| spellingShingle | Ann Genovese Merlin G. Butler Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD) International Journal of Molecular Sciences autism ASD genetics heterogeneity syndromes assessment |
| title | Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD) |
| title_full | Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD) |
| title_fullStr | Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD) |
| title_full_unstemmed | Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD) |
| title_short | Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD) |
| title_sort | clinical assessment genetics and treatment approaches in autism spectrum disorder asd |
| topic | autism ASD genetics heterogeneity syndromes assessment |
| url | https://www.mdpi.com/1422-0067/21/13/4726 |
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