Research Topic

Personalized Precision Medicine in Autism Spectrum Related Disorders

About this Research Topic

A popular quote by Dr. Stephen Shore, an expert in the area of autism, is “If you’ve met one person with autism, you’ve met one person with autism”. Despite many shared features, as listed in DSM-5, there are more than 150 known etiologies of Autism Spectrum Disorders (ASD). The etiology of a particular disorder can influence anything from severity, comorbidities, and even response to therapy. Furthermore, susceptibility to ASD is now understood to be partially due to rare genetic variants, and partially due to environmental factors including prenatal viruses, prenatal insults and premature birth.

As ASD are extremely variable in aetiology, there is often also variation in how different patients are treated, as some may be treated for their core symptoms and others for their comorbidities. Neurological comorbidities such as epilepsy, motor impairments and abnormal brain growth or malformations (including macrocephaly, absence of the corpus callosum or migration defects) may become the target for treatment for many ASD patients, however these comorbidities can also a hint at a specific genetic etiology such as PTEN, SCN1A, DD3X, FOXG1, or SHANK3. The path from etiology to treatment can be demonstrated using Fragile X syndrome as a model, or other etiologies and phenotypes that may direct early diagnosis and a more focused approach to managing patients with ASD. We hypothesize that the failure of previous ASD behavioral and pharmacological therapy trials is mainly due to mixing biologically different ASD populations, as well as the focus on subjective measures for endpoints, which are influenced strongly by the placebo response. It is possible that some of the drugs or behavioral interventions could have had significant benefits in a more biologically homogenous sub-population of ASD.

With this Research Topic we would like to explore a more personalized approach to the diagnosis and treatment of ASD. This includes looking at risk factors, genetic factors with an emphasis on Fragile X Syndrome, and environmental factors with emphasis on prematurity. We would also like to discuss the neurological comorbidities associated with ASD, as well as biomarkers, and the importance of early diagnosis. We therefore welcome submissions of manuscripts on, but not limited to, the following topics:

• Measures and methods to improve early diagnosis of ASD;
• Prenatal and perinatal risk recognition of neurodevelopmental disorders including ASD;
• Prematurity and ASD;
• Neurological complications such as epilepsy and brain malformations;
• Specific trajectories of genetic disorders with ASD phenotype;
• Fragile X Syndrome trajectory and links to ASD phenotype.

We would like to acknowledge that Dr. Orit Stolar, Assaf Harofeh Medical Center, has acted as a coordinator and has contributed to the preparation of the proposal for this Research Topic.


Keywords: Fragile X, Autism, ASD, risk recognition, prematurity, prerinatal brain injury, epigenetic targeted treatment, genetic predisposition


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

A popular quote by Dr. Stephen Shore, an expert in the area of autism, is “If you’ve met one person with autism, you’ve met one person with autism”. Despite many shared features, as listed in DSM-5, there are more than 150 known etiologies of Autism Spectrum Disorders (ASD). The etiology of a particular disorder can influence anything from severity, comorbidities, and even response to therapy. Furthermore, susceptibility to ASD is now understood to be partially due to rare genetic variants, and partially due to environmental factors including prenatal viruses, prenatal insults and premature birth.

As ASD are extremely variable in aetiology, there is often also variation in how different patients are treated, as some may be treated for their core symptoms and others for their comorbidities. Neurological comorbidities such as epilepsy, motor impairments and abnormal brain growth or malformations (including macrocephaly, absence of the corpus callosum or migration defects) may become the target for treatment for many ASD patients, however these comorbidities can also a hint at a specific genetic etiology such as PTEN, SCN1A, DD3X, FOXG1, or SHANK3. The path from etiology to treatment can be demonstrated using Fragile X syndrome as a model, or other etiologies and phenotypes that may direct early diagnosis and a more focused approach to managing patients with ASD. We hypothesize that the failure of previous ASD behavioral and pharmacological therapy trials is mainly due to mixing biologically different ASD populations, as well as the focus on subjective measures for endpoints, which are influenced strongly by the placebo response. It is possible that some of the drugs or behavioral interventions could have had significant benefits in a more biologically homogenous sub-population of ASD.

With this Research Topic we would like to explore a more personalized approach to the diagnosis and treatment of ASD. This includes looking at risk factors, genetic factors with an emphasis on Fragile X Syndrome, and environmental factors with emphasis on prematurity. We would also like to discuss the neurological comorbidities associated with ASD, as well as biomarkers, and the importance of early diagnosis. We therefore welcome submissions of manuscripts on, but not limited to, the following topics:

• Measures and methods to improve early diagnosis of ASD;
• Prenatal and perinatal risk recognition of neurodevelopmental disorders including ASD;
• Prematurity and ASD;
• Neurological complications such as epilepsy and brain malformations;
• Specific trajectories of genetic disorders with ASD phenotype;
• Fragile X Syndrome trajectory and links to ASD phenotype.

We would like to acknowledge that Dr. Orit Stolar, Assaf Harofeh Medical Center, has acted as a coordinator and has contributed to the preparation of the proposal for this Research Topic.


Keywords: Fragile X, Autism, ASD, risk recognition, prematurity, prerinatal brain injury, epigenetic targeted treatment, genetic predisposition


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

23 August 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

23 August 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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