Results 11 to 20 of about 2,239,923 (360)

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani   +10 more
wiley   +1 more source

The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 424-436, February 2023., 2023
Abstract Several changes in the behavioral phenotype arise with the growth of children affected by Cornelia de Lange Syndrome (CdLS) and Rubinstein‐Taybi Syndrome (RSTS). However, previous research relied on a cross‐sectional study design turning into age‐related comparisons of different syndromic cohorts to explore age‐dependent changes.
Paola Francesca Ajmone   +11 more
wiley   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker   +9 more
wiley   +1 more source

Multivariate analyses of molecular genetic associations between childhood psychopathology and adult mood disorders and related traits

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 192, Issue 1-2, Page 3-12, January-March 2023., 2023
Abstract Ubiquitous associations have been detected between different types of childhood psychopathology and polygenic risk scores based on adult psychiatric disorders and related adult outcomes, indicating that genetic factors partly explain the association between childhood psychopathology and adult outcomes. However, these analyses in general do not
Wonuola A. Akingbuwa   +12 more
wiley   +1 more source

Clinical overview on RASopathies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022
Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley   +1 more source

The transition from children’s services to adult services for young people with attention deficit hyperactivity disorder: the CATCh-uS mixed-methods study

open access: yesHealth Services and Delivery Research, 2020
Background: Attention deficit hyperactivity disorder was previously seen as a childhood developmental disorder, so adult mental health services were not set up to support attention deficit hyperactivity disorder patients who became too old for child ...
Astrid Janssens   +14 more
doaj   +1 more source

EEG for Diagnosis of Adult ADHD: A Systematic Review With Narrative Analysis

open access: yesFrontiers in Psychiatry, 2020
BackgroundAttention deficit hyperactivity disorder is a common neurodevelopmental disorder characterized by symptoms of inattention, hyperactivity and or impulsivity.
Marios Adamou   +2 more
doaj   +1 more source

Late-manifestation of attention-deficit/hyperactivity disorder in older adults: an observational study

open access: yesBMC Psychiatry, 2022
Background The age of attention-deficit/hyperactivity disorder onset is usually during the first 12 years of life; however, there have been recent reports of late-onset attention-deficit/hyperactivity disorder.
Hiroyuki Sasaki   +6 more
doaj   +1 more source

The effect of motor and computer games on attention and social communications of male students with Attention Deficit Hyperactivity Disorder 10-12 years [PDF]

open access: yesروانشناسی و روانپزشکی شناخت, 2022
Introduction: Children with Attention Deficit Hyperactivity Disorder, in addition to attention deficit hyperactivity disorder and alertness problems, show the the lowest level of social activity and they have more trouble finding and keeping friends ...
Seyed Hasan Hosseini Kolkoo   +3 more
doaj   +1 more source

The Combined Effect of Executive Functions Training to Children with Attention Deficit /Hyperactivity Disorder, Behavior Change Strategies to Parents, and Communication Skills to Peers on Relationship with Parents [PDF]

open access: yesRavānshināsī-i Afrād-i Istis̠nāyī, 2021
The aim of this study was to determine the combined effect of executive functions training to children with attention deficit /hyperactivity disorder, behavior change strategies to parents, and communication skills to peers on relationship with parents ...
Pegah Azadimanesh   +2 more
doaj   +1 more source

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