Results 161 to 170 of about 433,850 (368)

Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Difficulties with feeding and digestion are common in individuals with CHARGE syndrome. Animal models with CHD7 gene variants demonstrate abnormal gut innovation and dysmotility. Our pilot study evaluated whether individuals with CHARGE syndrome have differences in their gut microbiome compared to unaffected siblings.
Emily R. Chedrawe   +5 more
wiley   +1 more source

Model selection to achieve reproducible associations between resting state EEG features and autism

open access: yesScientific Reports
A concern in the field of autism electroencephalography (EEG) biomarker discovery is their lack of reproducibility. In the present study, we considered the problem of learning reproducible associations between multiple features of resting state (RS ...
William E. Carson   +7 more
doaj   +1 more source

The coherence of autism

open access: yesAutism, 2013
There is a growing body of opinion that we should view autism as fractionable into different, largely independent sets of clinical features. The alternative view is that autism is a coherent syndrome in which principal features of the disorder stand in intimate developmental relationship with each other.
openaire   +4 more sources

Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley   +1 more source

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking   +6 more
wiley   +1 more source

Combining Radiomics and Machine Learning Approaches for Objective ASD Diagnosis: Verifying White Matter Associations with ASD [PDF]

open access: yesarXiv
Autism Spectrum Disorder is a condition characterized by a typical brain development leading to impairments in social skills, communication abilities, repetitive behaviors, and sensory processing. There have been many studies combining brain MRI images with machine learning algorithms to achieve objective diagnosis of autism, but the correlation ...
arxiv  

Advancing Robot-Assisted Autism Therapy: A Novel Algorithm for Enhancing Joint Attention Interventions [PDF]

open access: yesarXiv
Recent studies have revealed that using social robots can accelerate the learning process of several skills in areas where autistic children typically show deficits. However, most early research studies conducted interactions via free play. More recent research has demonstrated that robot-mediated autism therapies focusing on core impairments of autism
arxiv  

Identification of Transdiagnostic Childhood Externalizing Pathology Within an Electronic Medical Records Database and Application to the Analysis of Rare Copy Number Variation

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Externalizing traits and behaviors are broadly defined by impairments in self‐regulation and impulse control that typically begin in childhood and adolescence. Externalizing behaviors, traits, and symptoms span a range of traditional psychiatric diagnostic categories.
India A. Reddy   +5 more
wiley   +1 more source

Association Between Polygenic Risk and Symptom Severity Change After Cognitive Behavioral Therapy for Obsessive‐Compulsive Disorder

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A large proportion of patients undergoing cognitive behavior therapy (CBT) for obsessive‐compulsive disorder (OCD) do not respond sufficiently to treatment. Identifying predictors for change in symptom severity after treatment could inform clinical decision‐making, allow for better‐tailored interventions, and avoid treatment failure.
Julia Bäckman   +39 more
wiley   +1 more source

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