Brain Connectivity in Neurodevelopmental Disorders in Response to Treatment
Autism Spectrum DisordersPsychosis1 moreThe purpose of the proposed research is to study the potential changes in biomarkers of patients with neurodevelopmental disorders in response to treatment in clinical trials or in private psychiatry practice utilizing non-invasive psychophysiological measurements. The investigators plan to obtain psychophysical measurements throughout several periods of treatment.
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).
Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
Phelan-McDermid SyndromeAutism Spectrum Disorder1 moreThe protocol aims to comprehensively define the phenotype of Phelan-McDermid Syndrome and to identify potential genetic factors, which may play a role in the variability of the disease's outcomes. The first aim involves a physical exam, a neurological exam, collection of medical history information, a clinical genetic evaluation, blood work and neuropsychological assessments. If clinically indicated, the protocol collects information from medical tests. These medical tests may include electrocardiography, echocardiography, renal ultrasonography, and renal ultrasound.
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.
Clinical, Environmental, Neurocognitive, Brain Imaging, and Genetic Validity of Autism and ADHD...
Attention Deficit Hyperactivity DisorderAutism Spectrum DisorderThe behavioral patterns, neurocognitive and social impairments, and high heritability are the common characteristics of autism spectrum disorders (ASD) and attention-deficit hyperactivity disorder (ADHD), the two most common early-onset neuropsychiatric disorders. Little is known about the discriminative validity between these two disorders. As brain imaging studies have been recognized as an important biological tool to validate disease involving the brain, no studies have employed this approach to distinguish the brain functioning between ASD and ADHD. Moreover, there is lack of comprehensive data of environmental, behavioral, neurocognitive, neuroimaging, and genetic data for healthy children. Hence, we propose this program project involving expertise researchers in the fields of child psychiatry and psychology, psychiatric genetics, and brain imaging studies to elucidate the neuropathophysiology and genes & environment interactions of ASD and ADHD as comparing to healthy controls by integrating data from environments, behavioral phenotypes, endophenotypes, and genotypes in one study.
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.
Clinical and Immunological Investigations of Subtypes of Autism
Autism Spectrum DisordersSeizuresThe purpose of this study is to learn more about autism and its subtypes. Autism is a developmental disorder in which children have problems with communication and social skills and display restricted interests and repetitive behaviors. This study has several goals. One aim is to look at types of autism that are known, such as the regressive subtype, (where skills are lost). We will explore whether there is a unique change in immune functioning related to this subtype. Another aim is to serve as one of the sites that will pilot a larger natural history study, entitled Autism Phenome Project. The goal is to further understand autism by identifying other subtypes. We will look at several types of medical issues that may be related to autism, including immunologic problems. Children will be followed over the course of several years. We aim to capture medical problems that may be related to autism as they develop, and study outcomes in areas such as behavior and language, in order to explore known and new subtypes of autism. Normally developing children (aged 1) with autism (age 1, and developmental delays other than autism (age 1), may be eligible for this study. Depending on each child's study group and age, participants may undergo the following tests and procedures: Baseline Visit Medical and developmental history, physical examination, psychological, cognitive and medical tests to assess symptoms of autism or other developmental disorders, photographs of the child's face, collection of hair, urine and baby teeth samples. If available, hair samples from the baby's first haircut and from the biological mother's hair are also collected. Overnight electroencephalogram (EEG): A special cap with electrodes is placed on the child's head to measure brain waves (brain electrical activity) while the child sleeps in the hospital overnight. Healthy volunteers do not undergo this procedure. Magnetic resonance imaging (MRI) scan: The child stays in the scanner, lying still for 10 to 15 minutes at a time. Since it may be difficult for the child to lie still, the test may be scheduled for a time when the child is likely to be sleepy, or the child may be sedated. Lumbar puncture (for children in the autism). This test and the MRI may be done under sedation. Follow-Up Visits Follow-up visits are scheduled at different intervals, depending on study group, age and aspect of the study the child is enrolled in. The visits include a short interview session with the child's caregiver and assessment of the child's development and behavior. Some of the assessment measures used during the baseline examination are repeated, including symptoms ratings, behavioral tests and a blood test. For some children, the final visit will include repeats of the medical procedures.
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.