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Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright +10 more
wiley +1 more source

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source

Adjacent Segment Disease after Lumbar Spine Fixation [A Systematic Review] [PDF]

International Journal of Medical Arts
Background: Disc degeneration is a common form of adjacent segment disease [ASD] that occurs less frequently than laxity, instability, stenosis, nucleus pulposus herniation, hypertrophic facet arthritis, and vertebral compression fractures.The aim of the
Muhammed Abd ElMenem Negm +2 more
doaj +1 more source

Faces do not capture special attention in children with autism spectrum disorder: a change blindness study [PDF]

, 2009
Two experiments investigated attention of children with autism spectrum disorder (ASD) to faces and objects. In both experiments, children (7- to 15-year-olds) detected the difference between 2 visual scenes.
Hasegawa, T. +4 more
core +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert +4 more
wiley +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud +6 more
wiley +1 more source

Examination of Training for Individuals Using ABA With Students Diagnosed With ASD [PDF]

, 2019
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that affects the social communication and behaviours of individuals diagnosed; Applied Behavioural Analysis (ABA) is an evidence-based treatment for individuals with ASD and a teaching ...
Dontoh, Edna
core

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin +5 more
wiley +1 more source

The Subjective Experience of Music in Autism Spectrum Disorder [PDF]

, 2009
Semi-structured interviews were conducted with 12 high-functioning adults on the autism spectrum in order to examine the nature of their personal experiences of music. The analysis showed that most participants exploit music for a wide range of purposes
Rory Allen +5 more
core +1 more source

Mechanical Thrombectomy Versus Medical Management for Large Ischemic Core Stroke Identified before Inter‐Hospital Transfer: A Post Hoc Analysis of the LASTE Trial

Annals of Neurology, EarlyView.
Objective This study assessed the efficacy of thrombectomy in acute ischemic stroke because of large‐vessel occlusion (AIS‐LVO) initially admitted to primary stroke centers (PSC) and subsequently transferred to a comprehensive stroke center (CSC), with a large ischemic core identified before transfer.
Pierre Seners +258 more
wiley +1 more source

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