Magnetic Resonance Spectroscopic and Diffusion Tensor Imaging of Adolescents With Autism Spectrum...
Autism Spectrum DisordersThe primary objective of this study is to conduct magnetic resonance spectroscopic (MRS) and imaging (MRI) scans to assess the structural and neurochemical profile of the brain in 20 children and adolescents, 6-17 years old with Autism Spectrum Disorder (ASD). For comparison, MRS and MRI will also be obtained from 10 healthy control subjects, matched to the 20 subjects with ASD in age, sex, dexterity, and IQ. All eligible subjects will be administered a detailed assessment battery consisting of cognitive assessments (neuropsychological battery including subsets of the DANVA2 and the CANTAB) and measures of psychosocial functioning (SAICA and M-FES). The study includes 1-3 visits for the screening period at Massachusetts General Hospital (approximately 4 hours of assessments) and one scanning visit at McLean Hospital (approximately 1.5 hours). The investigators hypothesize that youth with ASD versus controls will exhibit increased glutamate concentrations, reflecting glutamatergic overactivity, and increased Cho concentrations, suggesting neuronal abnormality. Furthermore, the investigators hypothesize that compared to neurotypical controls, the structural integrity of white mater tracts will be disrupted in ASD.
Eating Behaviours, Diet and Gastrointestinal Symptoms in Children With Autism Spectrum Disorders...
Autism Spectrum DisorderThis case-control study aims to compare the differences in eating behaviours, nutritional status, diet quality and gastrointestinal (GI) health between Chinese children aged 3-6 years with autism spectrum disorders (ASD) (n=65) and typically developing children (TDC) (n=65).
Maternal Polyunsaturated Fatty Acids in Association With Child Autism Spectrum Disorder in the MARBLES...
Autism Spectrum DisorderThis study is to examine the association between maternal omega3 and other polyunsaturated fatty acids (PUFAs) during pregnancy and autism spectrum disorder (ASD) as well as other non-typical development (Non-TD) in the prospective Markers of Autism Risk in Babies-Learning Early Signs (MARBLES) cohort.
Bone Mass Accrual in Children With Autism Spectrum Disorder
Autism Spectrum DisorderBone Diseases1 moreThis is a observational study to investigate the degree to which bone mineral density is impaired in boys with autism compared with typically developing controls.
Predictors of Caregiver Adaptation to Pervasive Developmental Disorders
AutismAsperger's Syndrome1 moreThis study will explore predictors of how caregivers might adapt to children diagnosed with a pervasive developmental disorder (PDD), including autism, Asperger s syndrome, childhood disintegrative disorder, Rett s disorder or other not specified PDD. PDD presents particular challenges for caregivers because of the communication and socialization challenges of affected children and because of the uncertainty surrounding the cause, prognosis and recurrence risks. People 18 years of age or older who are the primary caregiver for a child diagnosed with a PDD may be eligible for this study. Participants fill out a survey, either online or in hard copy, that includes information in the following categories: How being a caregiver for a child with a PDD has impacted the caregiver. How much control the caregiver feels that he or she or others have over certain aspects of their child s PDD. What the caregiver thinks caused the child s PDD. What coping techniques the caregiver uses in caring for a child with a PDD. How uncertain the caregiver feels about his or her child s PDD. What the caregiver feels about him- or herself as a caregiver of a child with a PDD. General questions about the caregiver, his or her family and the child with a PDD.
Molecular Characterization of Patients Affected by Williams Syndrome and Autism.
Williams Beuren SyndromeAutism Spectrum DisorderWilliams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness and social disinhibition, often defined as "overfriendliness" and "hypersociability". WBS is generally considered as the polar opposite phenotype to Autism Spectrum Disorder (ASD). Surprisingly, the prevalence of ASD has been reported to be significantly higher in WBS (12%) than in general population (1%). This study aims to investigate the molecular basis of the peculiar association of ASD and WBS. The investigator performed chromosomal microarray analysis and whole exome sequencing in six patients presenting with WBS and ASD, in order to evaluate the possible presence of chromosomal or gene variants considered as pathogenic.
Deciphering the Autism Spectrum Disorder Beyond Genomics
Autism Spectrum DisorderThe investigators propose to study the molecular etiology of autism spectrum disorder(ASD) from a genomic, metabolomics and network biology perspective by combining data of gene expression, sequence variations and metabolism conditions of patients with ASD. As the complexity of ASD, the investigators consider both science-based and clinic-based measurements to ensure no missing of any relevant domain of the complex relations. In addition to the collection of biological factors, the investigators will also collect the comprehensive clinical, environmental, neurocognitive, MRI images to integrate the multiple factors into the matrix features. Finally the investigators will apply the machine learning to provide us the aspects of the underline pathway back into the other sample distribution published as the open dataset to verify and adjust the features in order to achieve satisfactory level of the reliability and stability of the algorithms. With Next Generation Sequencing (NGS) technology, the investigators will sequence the whole exome sequencing (WES) (MiSeq System) of approximately 120 ASD probands, 40 unaffecting siblings and 40 healthy controls of Taiwanese Han population to identify ASD-associated transcriptome profiles. The results will be using real-time PCR (qPCR) or conventional Sanger sequencing to verified. The investigators will use both liquid chromatography/time-of-flight mass spectrometry (LC-MS) and gas chromatography/quadrupole mass spectrometry (GC-MS) for a full assessment of a wide range of metabolites with over 820 metabolites. Hence, this 3-year proposal consists two main parts - the ASD transcriptome sequence analysis by NGS technology and the metabolomics study of ASD via LC-MS and GC-MS technology.
Somatic Symptoms in Autism Spectrum Disorder: Data Integration
Autism Spectrum DisorderSomatic Symptom DisorderAutistic patients have higher chances commorbid somatic symptoms. Therefore, it leads to more health-related concerns, such as autoimmune disease, gastrointestinal disease, cardiovascular disease, autonomic disorders. On average, autistic patient's life span is 16 years shorter than non-autistic patients. Furthermore, autistic patients are not able to convey or communicate their somatic symptoms in a clear and comprehensive manner. This leads to unable to receive proper health care in a timely manner.
Nutritional Status and ASD Severity of Autistic Spectrum Disorder Children in Addis Ababa, Ethiopia;...
Autistic Spectrum DisorderThe study conducts a case control analysis of the nutritional status and intake of autistic spectrum disorder diagnosed children as compared to typically developing children in Addis Ababa, Ethiopia. It included analysis of anthropometric measurements, three days food diary food intake, urinary iodine analysis, childhood autism rating scale diagnosis, food frequency and eating behavior questioner and proximate analysis of one day major meals of selected subjects.
Shifting Brain Excitation-Inhibition Balance in Autism Spectrum Disorder
Autism Spectrum DisorderThis study investigates brain response to single acute dose of cannabidiol, cannabidivarin, and placebo in healthy men with and without autism spectrum disorder