A5089665231- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Family and Disability Support Research
- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- Child Nutrition and Feeding Issues
- Retinal Imaging and Analysis
- COVID-19 Clinical Research Studies
- Congenital heart defects research
- Genomics and Rare Diseases
- Virology and Viral Diseases
- Child and Adolescent Psychosocial and Emotional Development
- Schizophrenia research and treatment
- Functional Brain Connectivity Studies
- Retinal Diseases and Treatments
- Mental Health and Psychiatry
- Attention Deficit Hyperactivity Disorder
- Genetic Mapping and Diversity in Plants and Animals
- Child Development and Digital Technology
- Obsessive-Compulsive Spectrum Disorders
- Retinal Development and Disorders
- Bioinformatics and Genomic Networks
- Chronic Disease Management Strategies
- Advanced Neuroimaging Techniques and Applications
- Mental Health Treatment and Access
Tufts University
2002-2024
MaineHealth
2019-2024
Maine Medical Center
2013-2022
Maine Medical Center Research Institute
2013-2022
Massachusetts General Hospital
2005-2022
Harvard University
2006-2022
Research Network (United States)
2022
Maine Medical Center
2015-2021
Psychiatric Medical Center
2019
Center for Human Genetics
2005-2013
Autism spectrum disorder is a heritable developmental in which chromosomal abnormalities are thought to play role.As first component of genomewide association study families from the Genetic Resource Exchange (AGRE), we used two novel algorithms search for recurrent copy-number variations genotype data 751 multiplex with autism. Specific de novo events were further evaluated clinical-testing Children's Hospital Boston and large population Iceland.Among AGRE families, observed five instances...
Twin and family studies have shown that autism is approximately 90% heritable, in about 10% of patients, the disorder can be explained by genetic syndromes known chromosomal anomalies. The present study an initial component a genome-wide associational analysis families from Autism Genetic Resource Exchange (AGRE). Two novel algorithms were used to search for recurrent copy-number variations genotype data 751 multiplex with autism. Particular de novo events further examined clinical test...
Abstract Psychiatric disorders display high levels of comorbidity and genetic overlap 1,2 . Genomic methods have shown that even for schizophrenia bipolar disorder, two long-thought to be etiologically distinct 3 , the majority signal is shared 4 Furthermore, recent cross-disorder analyses uncovered over a hundred pleiotropic loci across eight 5 However, full scope disorder-specific basis psychopathology remains largely uncharted. Here, we address this gap by triangulating suite cutting-edge...
Autism is a severe neurodevelopmental disorder defined by social and communication deficits ritualistic-repetitive behaviors that are detectable in early childhood. The etiology of idiopathic autism strongly genetic, oligogenic transmission likely. first stage two-stage genomic screen for was carried out the Collaborative Linkage Study on individuals affected with from 75 families ascertained through an sib-pair. strongest multipoint results were regions chromosomes 13 7. highest maximum...
We investigated the effect of incorporating information about proband and parental structural language phenotypes into linkage analyses in two regions for which we found highest signals our first-stage affected sibling pair genome screen: chromosomes 13q 7q. were particularly interested following up on chromosome 7q finding light prior reports this region to developmental disorder, since one diagnostic criteria autism is absent or abnormal development. hypothesized that if phenotype...
Several studies have suggested that the genetic liability for autism may be expressed in non-autistic relatives of autistic probands, behavioral characteristics are milder but qualitatively similar to defining features autism. We employ a variety direct assessment approaches examine both personality and language parents ascertained through having two children (multiple-incidence parents) Down syndrome probands. Multiple-incidence had higher rates particular (rigidity, aloofness,...
Abstract We surveyed random samples of 500 practicing physicians and 504 medical students in a New England state during 1984–1985; 70 percent the 79 responded. Fifty-nine 78 reported that they had used psychoactive drugs at some time their lives. In both groups, recreational use most often involved marijuana cocaine, self-treatment tranquilizers opiates. previous year, 25 treated themselves with drug, 10 one recreationally. Although was experimental or infrequent, current regular drug (once...
Our goal in this study was to determine whether maternal fat intake before or during pregnancy associated with risk of autism spectrum disorder (ASD) the offspring. primary analysis included 317 mothers who reported a child ASD and 17,728 comparison from Nurses' Health Study II (index births 1991-2007). Dietary information collected prospectively through validated food frequency questionnaire. Binomial regression used estimate crude adjusted ratios. Maternal linoleic acid significantly...
<h3>Importance</h3> Although autism spectrum disorder (ASD) is known to be heritable, patterns of inheritance subclinical autistic traits in nonclinical samples are poorly understood. <h3>Objective</h3> To examine the familiality Social Responsiveness Scale (SRS) scores individuals with and without ASD. <h3>Design, Setting, Participants</h3> We performed a nested case-control study (pilot study: July 1, 2007, through June 30, 2009; full-scale September 15, 2008, 14, 2012) within...
In a case-control study of cognitive performance, tests intelligence, reading, spelling, and pragmatic language were administered to the parents siblings 90 community-ascertained probands with autism (AU group) 40 similarly ascertained trisomy 21 Down syndrome (DS group). The two samples comparable for age parents' education; both groups well-educated had above-average intelligence. AU scored slightly but significantly lower on WAIS-R Full Scale Performance IQ, subtests (Picture Arrangement...
Past literature suggests that schizophrenic men and women may be at different risks for developing subtypes of schizophrenia. This hypothesis was tested using data from the well-known retrospective cohort family studies, Iowa 500 non-500. The sample consisted 171 male 161 female DSM-III patients 713 their first-degree relatives. First, bivariate tests gender differences were conducted regarding morbidity, age onset, premorbid history, season birth, expression deficit affective symptoms....
Objective To explore the influence of gender and comorbid obsessive-compulsive disorder (OCD) on phenomenology Tourette's syndrome (TS). Method TS proband groups defined by OCD status were compared a variety sociodemographic variables, clinical characteristics, perinatal complications. Results Compared to females, males more often onset with rage had ever experienced any form simple tics. Females compulsive tics than males. Probands likely those without complex Delivery complications,...
This study sought to resolve conflicting views about whether physicians are especially prone alcohol abuse.Using an anonymous, mailed questionnaire on substance use, we surveyed 500 physicians, 510 pharmacists, and 974 of their students. The pharmacists were selected randomly from the state society's membership lists, students local school lists. Follow-up surveys sent nonresponders at two-week intervals.The medical did not drink heavily no more vulnerable alcoholism than counterparts in...
Abstract The authors examined pregnancy and obstetric complications in association with autism spectrum disorders (ASD) children of participants from the Nurses' Health Study II, a prospective national cohort information collected through biennial mailed questionnaires since 1989. Logistic regression was used to obtain crude adjusted odds ratios for ASD, by diagnostic subgroup. Seven hundred ninety‐three cases were reported among 66,445 pregnancies. Pregnancy suboptimality factors assessed...