Results 131 to 140 of about 275,396 (341)

A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu, Kierstin Keller, Dong Li, Hope Thomas, Nora O'Connor, Abbas F. Jawad, Allison Thomas, Nina H. Thomas, Hakon Hakonarson, Leslie Castelo‐Soccio, Sarah E. Sheppard   +10 more
wiley   +1 more source

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku, Aafke Engwerda, Tyler D. Medina, Morris A. Swertz, Lennart F. Johansson, Conny M. A. van Ravenswaaij‐Arts, Imke Christiaans   +6 more
wiley   +1 more source

Association of maternal autoimmune disease and early childhood infections with offspring autism spectrum disorder: A population‐based cohort study

Autism Research, Volume 15, Issue 12, Page 2371-2380, December 2022., 2022
Abstract The aim of this study was to examine potential synergistic effects between maternal autoimmune disease and early childhood infections and their association with autism spectrum disorder (ASD) in offspring. Both exposures have been associated with increased risk of ASD in previous studies, but potential synergistic effects remain underexplored.
Timothy C. Nielsen, Natasha Nassar, Antonia W. Shand, Hannah F. Jones, Velda X. Han, Shrujna Patel, Adam J. Guastella, Russell C. Dale, Samantha J. Lain   +8 more
wiley   +1 more source

Differences in the Psychopharmacological Trajectories of School-Age Children with Attention-Deficit/Hyperactivity Disorder with and without Intellectual Disability

Acta Médica Portuguesa
Introduction: Attention-deficit/hyperactivity disorder (ADHD) affects 5% - 7% of school-aged children, while intellectual disability (IDD) affects approximately 1% of the general population.
Francisca Bastos Maia, Vânia Martins Miranda   +1 more
doaj   +1 more source

Adolescence: Its Psychology and its Relations to Physiology, Anthropology, Sociology, Sex, Crime, Religion, and Education. By G. Stanley Hall, Ph.D., LL.D [PDF]

, 1904
Alexander F. Chamberlain
openalex   +1 more source

Growth Charts for Children With Beckwith–Wiedemann Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp‐specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp ...
Saskia M. Maas, Peter Lauffer, Guido Cocchi, Madison DeMarchis, Andrew M. George, Alessandro Mussa, Francesco Pellegrino, Alexander M. J. Spaans, Emma C. van den Brink, Jan M. Wit, Leonie A. Menke, Jennifer M. Kalish   +11 more
wiley   +1 more source

Examining the relationship between cognitive inflexibility and internalizing and externalizing symptoms in autistic children and adolescents: A systematic review and meta‐analysis

Autism Research, Volume 15, Issue 12, Page 2265-2295, December 2022., 2022
Abstract Compared to neurotypical peers, autistic adolescents show greater cognitive inflexibility (CI) which manifests at the behavioral and cognitive level and potentially increases vulnerability for the development of internalizing (INT) and externalizing (EXT) symptoms.
Jiedi Lei, Tony Charman, Eleanor Leigh, Ailsa Russell, Zameer Mohamed, Matthew J. Hollocks   +5 more
wiley   +1 more source

Extended Growth Curves for the Wolf‐Hirschhorn Syndrome (4p‐)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wolf‐Hirschhorn syndrome (WHS) is a rare, highly variable contiguous gene deletion syndrome caused by deletions of the distal portion of the short arm of chromosome 4. Individuals with this disorder have prenatal onset of poor growth of all dimensions, along with neurological manifestations, developmental disability, and distinctive facial ...
Amy R. U. L. Calhoun, Amanda Lortz, T. Charles Casper, John C. Carey   +3 more
wiley   +1 more source

Cognitive flexibility in autism: Evidence from young autistic children

Autism Research, Volume 15, Issue 12, Page 2296-2309, December 2022., 2022
Abstract We examined the cognitive flexibility performance of young autistic children and a group of neurotypical peers. Thirty‐six autistic children (72–83 months) and 200 age‐matched typically‐developing children were assessed on the Children's Color Trails Test (CCTT), a semantic and a phonemic verbal fluency task.
Maria Andreou, Kostas Konstantopoulos, Eleni Peristeri   +2 more
wiley   +1 more source

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti, Stefano Rebellato, Antonella Lettieri, Silvia Castiglioni, Milena Mariani, Simona Totaro, Claudia Saitta, Cristina Gervasini, Grazia Fazio, Valentina Massa, Giovanni Cazzaniga, Angelo Selicorni   +11 more
wiley   +1 more source