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The Identification of the Genetic Components of Autism Spectrum Disorders 2019 will serve as a resource for laboratory and clinical scientists as well as translational-based researchers, primary healthcare providers or physicians, psychologists/psychiatrists, neurologists, developmental pediatricians, clinical geneticists, and other healthcare providers, teachers, caregivers and students involved in autism spectrum disorders (ASD) with the goal to translate information directly to the clinic, education and home setting. Other professionals, students and families might find this textbook of value based on better awareness, causes and understanding of genetic components leading to autism and open avenues for treatment. Genetics play a role with up to 90% of autism, with over 800 currently recognized genes contributing to causes, clinical presentation, treatment, and counseling of family members. This textbook includes 13 chapters divided into three sections (clinical, genetics, other) written by experts in the field dedicated to research and clinical care, description, treatment and generating relevant reviews for ASD and related disorders impacting gene expression, profiling, and pathways. Identification of potential risk factors will be discussed, including obesity, microbiota, malignancy, and the immune system, as well as their direct or indirect contribution to ASD treatment and causation.

autism spectrum disorders (ASD) --- cancer --- overlapping genes and gene profiling --- super-pathways --- phenotypes and diseases --- molecular functions and processes --- 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome --- imprinting --- parent-of-origin effects --- phenotype-genotype correlation --- autism --- developmental delays --- motor delays --- microbiome --- gut --- ProSAP2 --- Phelan McDermid Syndrome --- gut–brain interaction --- leaky gut --- IL-6 --- SHANK --- collapsin response mediator protein 4 --- autism spectrum disorder --- neurodevelopmental disorder --- whole-exome sequencing --- animal model --- sex different phenotypes --- 15q11.2 BP1–BP2 microdeletion (Burnside–Butler syndrome) --- NIPA1 --- NIPA2 --- CYFIP1 --- TUBGCP5 genes --- Prader–Willi and Angelman syndromes --- magnesium transporters and supplementation --- potential treatment options --- intellectual disability --- AMPA receptors --- NMDA receptors --- guanine nucleotide exchange factor --- synaptic plasticity --- Autism spectrum disorder --- ASD --- Obesity --- Overweight --- Body mass index --- BMI --- autism candidate genes --- synaptotagmin-like protein 4 (SYTL4) --- transmembrane protein 187 (TMEM187) --- SYTL4-protein structure --- STRING-protein-protein interaction --- expression profile --- microRNA- interactions --- autism spectrum disorders --- biological networks --- genomics --- multi-omics --- network diffusion --- data integration --- genetics --- quantitative traits --- stratification by trait severity --- heterogeneity reduction --- case-control association analysis --- fragile X syndrome --- RNA toxicity --- DNA methylation --- mosaicism --- pediatrics --- MS-QMA --- AmplideX --- cytokine --- monocyte --- β-glucan --- T cell cytokine --- trained immunity --- maternal immune activation --- epigenetics --- mice --- postnatal VPA injection --- SAM --- gene expression --- nanostring

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The Identification of the Genetic Components of Autism Spectrum Disorders 2019 will serve as a resource for laboratory and clinical scientists as well as translational-based researchers, primary healthcare providers or physicians, psychologists/psychiatrists, neurologists, developmental pediatricians, clinical geneticists, and other healthcare providers, teachers, caregivers and students involved in autism spectrum disorders (ASD) with the goal to translate information directly to the clinic, education and home setting. Other professionals, students and families might find this textbook of value based on better awareness, causes and understanding of genetic components leading to autism and open avenues for treatment. Genetics play a role with up to 90% of autism, with over 800 currently recognized genes contributing to causes, clinical presentation, treatment, and counseling of family members. This textbook includes 13 chapters divided into three sections (clinical, genetics, other) written by experts in the field dedicated to research and clinical care, description, treatment and generating relevant reviews for ASD and related disorders impacting gene expression, profiling, and pathways. Identification of potential risk factors will be discussed, including obesity, microbiota, malignancy, and the immune system, as well as their direct or indirect contribution to ASD treatment and causation.

Research & information: general --- Biology, life sciences --- Genetics (non-medical) --- autism spectrum disorders (ASD) --- cancer --- overlapping genes and gene profiling --- super-pathways --- phenotypes and diseases --- molecular functions and processes --- 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome --- imprinting --- parent-of-origin effects --- phenotype-genotype correlation --- autism --- developmental delays --- motor delays --- microbiome --- gut --- ProSAP2 --- Phelan McDermid Syndrome --- gut–brain interaction --- leaky gut --- IL-6 --- SHANK --- collapsin response mediator protein 4 --- autism spectrum disorder --- neurodevelopmental disorder --- whole-exome sequencing --- animal model --- sex different phenotypes --- 15q11.2 BP1–BP2 microdeletion (Burnside–Butler syndrome) --- NIPA1 --- NIPA2 --- CYFIP1 --- TUBGCP5 genes --- Prader–Willi and Angelman syndromes --- magnesium transporters and supplementation --- potential treatment options --- intellectual disability --- AMPA receptors --- NMDA receptors --- guanine nucleotide exchange factor --- synaptic plasticity --- Autism spectrum disorder --- ASD --- Obesity --- Overweight --- Body mass index --- BMI --- autism candidate genes --- synaptotagmin-like protein 4 (SYTL4) --- transmembrane protein 187 (TMEM187) --- SYTL4-protein structure --- STRING-protein-protein interaction --- expression profile --- microRNA- interactions --- autism spectrum disorders --- biological networks --- genomics --- multi-omics --- network diffusion --- data integration --- genetics --- quantitative traits --- stratification by trait severity --- heterogeneity reduction --- case-control association analysis --- fragile X syndrome --- RNA toxicity --- DNA methylation --- mosaicism --- pediatrics --- MS-QMA --- AmplideX --- cytokine --- monocyte --- β-glucan --- T cell cytokine --- trained immunity --- maternal immune activation --- epigenetics --- mice --- postnatal VPA injection --- SAM --- gene expression --- nanostring --- autism spectrum disorders (ASD) --- cancer --- overlapping genes and gene profiling --- super-pathways --- phenotypes and diseases --- molecular functions and processes --- 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome --- imprinting --- parent-of-origin effects --- phenotype-genotype correlation --- autism --- developmental delays --- motor delays --- microbiome --- gut --- ProSAP2 --- Phelan McDermid Syndrome --- gut–brain interaction --- leaky gut --- IL-6 --- SHANK --- collapsin response mediator protein 4 --- autism spectrum disorder --- neurodevelopmental disorder --- whole-exome sequencing --- animal model --- sex different phenotypes --- 15q11.2 BP1–BP2 microdeletion (Burnside–Butler syndrome) --- NIPA1 --- NIPA2 --- CYFIP1 --- TUBGCP5 genes --- Prader–Willi and Angelman syndromes --- magnesium transporters and supplementation --- potential treatment options --- intellectual disability --- AMPA receptors --- NMDA receptors --- guanine nucleotide exchange factor --- synaptic plasticity --- Autism spectrum disorder --- ASD --- Obesity --- Overweight --- Body mass index --- BMI --- autism candidate genes --- synaptotagmin-like protein 4 (SYTL4) --- transmembrane protein 187 (TMEM187) --- SYTL4-protein structure --- STRING-protein-protein interaction --- expression profile --- microRNA- interactions --- autism spectrum disorders --- biological networks --- genomics --- multi-omics --- network diffusion --- data integration --- genetics --- quantitative traits --- stratification by trait severity --- heterogeneity reduction --- case-control association analysis --- fragile X syndrome --- RNA toxicity --- DNA methylation --- mosaicism --- pediatrics --- MS-QMA --- AmplideX --- cytokine --- monocyte --- β-glucan --- T cell cytokine --- trained immunity --- maternal immune activation --- epigenetics --- mice --- postnatal VPA injection --- SAM --- gene expression --- nanostring

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Prader-Willi syndrome (PWS) is a complex genomic imprinting disorder associated with a spectrum of medical, cognitive, behavioural, and psychiatric problems and is also the most common cause of life-threatening obesity that can be effectively treated with hormone therapy and restricted diet, if detected early. PWS is usually caused by the loss of the paternally inherited 15q11.2-q13 region and abnormal expression of genes within that region and beyond. While some genotype-phenotype correlations with delineation of clinical characteristics and natural history have emerged when comparing the three main molecular classes of PWS (maternal uniparental disomy (UPD) 15, imprinting centre defect, and deletion of paternal 15q11-q13), better awareness and informative biomarkers are still needed. These could facilitate early diagnosis, counseling, prognostic testing, as well as patient stratification for clinical trials, to improve outcomes for the affected children and their families. This Special Issue will comprise reviews and original research articles focused on the recent advances of genetics/genomics, testing, and epigenetic processes along with clinical description, co-morbidities, and natural history of PWS. Current and future directions with focus on improved screening, diagnosis, and treatment will be addressed in this rare neurodevelopmental genetic imprinting disorder influenced by the PWS genetic subtypes.

Prader-Willi syndrome.