Computer-aided diagnosis of rare genetic disorders from family snaps

Computer analysis of photographs could help doctors diagnose which condition a child with a rare genetic disorder has, say researchers. The researchers have come up with a computer program that recognizes facial features in photographs; looks for similarities with facial structures for various conditions, such as Down's syndrome, Angelman syndrome, or Progeria; and returns possible matches ranked by likelihood.
Source: ScienceDaily Headlines - Category: Science Source Type: news

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Introduction: Adenotonsillectomy is a common treatment for childhood obstructive sleep apnoea (OSA). Improved sleep quality is seen in some children, but others have residual symptomsAim: To investigate the effectiveness of adenotonsillectomy in treating symptoms of OSA.Method: Retrospective single-centre study, with analysis of symptoms and polysomnography (PSG) studies pre and post-surgery of children
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Paediatric respiratory physiology and sleep Source Type: research
Abstract Mutant mouse models of neurodevelopmental disorders with intellectual disabilities provide useful translational research tools, especially in cases where robust cognitive deficits are reproducibly detected. However, motor, sensory, and/or health issues consequent to the mutation may introduce artifacts that preclude testing in some standard cognitive assays. Touchscreen learning and memory tasks in small operant chambers have the potential to circumvent these confounds. Here we employ touchscreen visual discrimination learning to evaluate performance in the maternally derived Ube3a mouse model of Angelman syndrome...
Source: Genes, Brain and Behavior - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Genetic conditions comprise an increasingly large percentage of syndromes associated with autism spectrum disorder (ASD). Increased understanding of neurobiological features of genetic disorders may also significantly improve our understanding of potential mechanisms underlying ASD. The session will review neuroimaging findings for three neurogenetic conditions commonly identified in ASD:  fragile X syndrome, Down syndrome, and Angelman syndrome.
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Source Type: research
The presentation will provide an overview of the genetic basis of three disorders as follows: Angelman syndrome (AS); Down syndrome (DS); and fragile X syndrome (FRAX A). Current approaches to diagnosing these disorders will be highlighted.
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Source Type: research
A significant number of neurogenetic syndromes are associated with autism spectrum disorder (ASD). It is important for clinicians to not only be able to recognize these syndromes but to be aware of frequently encountered medical and psychiatric comorbidities. This presentation will focus on the clinical presentations, including common medical and psychiatric comorbidities, of Down syndrome, fragile X syndrome, and Angelman syndrome.
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Source Type: research
The neurogenetic syndromes constitute a wide array of clinical presentations, including multiple medical problems, behavioral challenges, and associated psychiatric disorders, such as ASD. This seminar will be a follow up to a previous clinical perspectives session on three neurogenetic syndromes associated with autism spectrum disorder (ASD) focusing on Down syndrome, fragile X syndrome, and Angelman syndrome.
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Tags: Clinical Perspectives 13 Source Type: research
This study determined the caregiver-reported frequency of self-injury and aggression in adults with TSC plus ID in comparison to Down syndrome (DS) and Angelman syndrome (AS), and assessed demographic and behavioural characteristics associated with the occurrence of each behaviour in TSC. Rates of self-injury and aggression in adults with TSC plus ID were 31% and 37.9% respectively. The odds of self-injury for adults with TSC were nearly twice as high as the odds for adults with DS, and the odds of aggression were over 2.5 times higher for adults with TSC than for adults with DS. When compared to adults with AS, odds of se...
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
CONCLUSION: The data suggest a significant decline in the prevalence of Down syndrome; however, the prevalence of other anomalies like congenital deafness is still high.   
Source: Annals of Saudi Medicine - Category: Journals (General) Tags: ISSUE 2 Source Type: research
Publication date: Available online 1 September 2015 Source:The Lancet Psychiatry Author(s): Caroline Richards, Christopher Jones, Laura Groves, Jo Moss, Chris Oliver Background Autism spectrum disorder (ASD) phenomenology is reported to be more common in individuals with some genetic syndromes than in the general population; however, no meta-analysis has provided prevalence data within and between syndromes. In this systematic review and meta-analysis, we aimed to synthesise data from a wide range of papers to provide accurate estimates about ASD phenomenology in genetic and metabolic syndromes. Methods We identifi...
Source: The Lancet Psychiatry - Category: Psychiatry Source Type: research
We report on a 6‐month‐old girl with two apparent cell lines; one with trisomy 21, and the other with paternal genome‐wide uniparental isodisomy (GWUPiD), identified using single nucleotide polymorphism (SNP) based microarray and microsatellite analysis of polymorphic loci. The patient has Beckwith‐Wiedemann syndrome (BWS) due to paternal uniparental disomy (UPD) at chromosome location 11p15 (UPD 11p15), which was confirmed through methylation analysis. Hyperinsulinemic hypoglycemia is present, which is associated with paternal UPD 11p15.5; and she likely has medullary nephrocalcinosis, which is associated with pat...
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: Clinical Report Source Type: research
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