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 160 known genetic mutations linked to autism, and many additional factors such as complications related to prematurity. The aetiology of a particular disorder can influence anything from severity, comorbidities, and even response to therapy. Susceptibility to autism 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.
Following the individual differences in specific trajectories linked to different aetiologies, age of diagnosis and comorbidities we suggest to add a plural to Autism Spectrum Disorder(s) (ASD) terminology.
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 aetiology such as PTEN, SCN1A, DD3X, FOXG1, or SHANK3. The path from aetiology to treatment can be demonstrated using Fragile X syndrome as a model, or other aetiologies 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 behavioural 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 behavioural 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 neurobehavioral markers 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;
• Gender Differences
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 160 known genetic mutations linked to autism, and many additional factors such as complications related to prematurity. The aetiology of a particular disorder can influence anything from severity, comorbidities, and even response to therapy. Susceptibility to autism 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.
Following the individual differences in specific trajectories linked to different aetiologies, age of diagnosis and comorbidities we suggest to add a plural to Autism Spectrum Disorder(s) (ASD) terminology.
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 aetiology such as PTEN, SCN1A, DD3X, FOXG1, or SHANK3. The path from aetiology to treatment can be demonstrated using Fragile X syndrome as a model, or other aetiologies 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 behavioural 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 behavioural 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 neurobehavioral markers 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;
• Gender Differences
