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Impact of a Genetic Diagnosis for a Child’s Autism on Parental Perceptions
Genetic testing is recommended as part of an autism assessment, and most parents support genetic testing for their minor children. However, the...
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Impact of Receiving Genetic Diagnoses on Parents’ Perceptions of Their Children with Autism and Intellectual Disability
To assess whether genetic test results identifying the cause of a child’s autism, when accompanied by other neurodevelopmental disorders (NDD),...
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Caregiver Narratives of Children with Autism Spectrum Disorder: Exploring Symptom Recognition, Diagnosis, and Interventions
The diagnosis of autism spectrum disorder (ASD) poses myriad challenges for families, yet there is a scarcity of research focusing on their journey...
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Implications of Provider Specialty, Test Type, and Demographic Factors on Genetic Testing Outcomes for Patients with Autism Spectrum Disorder
A minority of patients with autism spectrum disorder (ASD) are offered genetic testing by their providers or referred for genetics evaluation despite...
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Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability
We aimed to identify unique constellations of sensory phenotypes for genetic etiologies associated with diagnoses of autism spectrum disorder (ASD)...
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Genetic overlap between multivariate measures of human functional brain connectivity and psychiatric disorders
Psychiatric disorders are complex, heritable and highly polygenic. Supported by findings of abnormalities in functional magnetic resonance...
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Parental Perspectives on Early Life Screening and Genetic Testing for ASD: A Systematic Review
Autism Spectrum Disorder (ASD) is a prevalent neurodevelopmental condition for which no prenatal or early life screening tests exist. Early life...
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A Narrative Review of Genetic Testing for Children with Autism Spectrum Disorder in the United States
Although professional organizations in the United States have recommended genetic testing for children diagnosed with autism spectrum disorder (ASD),...
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Applications of Artificial Intelligence and Machine Learning for Diagnosis, Prediction, and Smart Health Care
In health care, machine learning (ML) algorithms harness the things of health data offered by the Internet of Things (IoT) to enhance patient...
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Caregivers Report on the Pathway to a Formal Diagnosis of Angelman Syndrome: A Comparison Across Genetic Etiologies within the Global Angelman Syndrome Registry
ObjectivesAngelman syndrome (AS) and is typically diagnosed in children under the age of three based upon early behavioural concerns identified by...
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The brain structure, immunometabolic and genetic mechanisms underlying the association between lifestyle and depression
Lifestyle factors have been acknowledged to be modifiable targets that can be used to counter the increasing prevalence of depression. This study...
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Pragmatic competence in people with dual diagnosis: down syndrome and autism spectrum disorder
BackgroundPragmatics is an area that can be affected in a wide variety of disorders. In this sense, Syndromic Autism is defined as a disorder in...
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Comorbid Diagnosis of ASD and ADHD: Assessment and Treatment Considerations
Autism spectrum disorder (ASD) is characterized by impairments in social communication and the presence of repetitive behaviors and restricted...
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Sex Differences in Autism Symptoms and Mental Health Difficulties in Adolescents with Rare Genetic Disorders
ObjectivesAdolescents with rare genetic disorders often display autism traits and mental health difficulties. Sex differences have been identified...
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Training and Educational Pathways for Clinicians (Post-graduation) for the Assessment and Diagnosis of Autism Spectrum Disorders: A Sco** Review
This review aimed to identify the post-graduation training pathways available for both clinicians and trainers in the assessment and diagnosis of...
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Diagnostic Overshadowing & Implications on Treatment & Rehabilitation of People with a Genetic Syndrome and Co-existing Psychiatric Conditions: A Case Report of 22q11.2 Duplication Syndrome
Mental health comorbidity is higher in those with learning disability; in the absence of a full and robust diagnostic clarification, diagnostic...
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An Approach to the Genetic Evaluation of Children with Autism Spectrum Disorders
Over the past 20 years, new genomic technologies have greatly enhanced our understanding of disease across every medical specialty. Clinical...
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Genetic and symptomatic risks associated with longitudinal brain morphometry in bipolar disorder
Offspring of parents with bipolar disorder (BD offspring) with subthreshold symptoms are particularly vulnerable to future disease onset, yet most of...
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Autism Prevalence and the Intersectionality of Assigned Sex at Birth, Race, and Ethnicity on Age of Diagnosis
PurposeAn official autism diagnosis is required to access timely intervention and is associated with better long-term wellbeing and mental health....
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Validation of an Enhanced Telehealth Platform for Toddlers at Increased Likelihood for a Diagnosis of Autism Spectrum Disorder (ASD)
Use of telehealth assessments for toddlers at increased likelihood of autism spectrum disorder (ASD) began prior to the global COVID-19 pandemic;...
