Results 71 to 80 of about 181,231 (346)

Memory in autistic spectrum disorder. [PDF]

Psychological Bulletin, 2012
Behavioral evidence concerning memory in forms of high-functioning autism (HFA) and in moderately low-functioning autism (M-LFA) is reviewed and compared. Findings on M-LFA are sparse. However, it is provisionally concluded that memory profiles in HFA and M-LFA (relative to ability-matched controls) are similar but that declarative memory impairments ...
Boucher, J., Mayes, A., Bigham, S.
openaire   +3 more sources

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Determination of Knowledge of Caregivers about Dietary Practices of Autistic Children

BioMedica, 2020
Background and Objective: Autism belongs to a complex neurodevelopmental disorder. The lack of knowledge about dietary practices of autistic caregivers is perceived as the triggering factor of ‘Autistic Spectrum Disorder (ASD).
Maryam Yaseen, Bahisht Rizwan, Iqra Gulzar, Ramsha Khalid, Sheza Tanveer, Zoya Abid, Sana Farooq   +6 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

The Effect of Autistic Traits on Social Orienting in Typically Developing Individuals

Frontiers in Psychology, 2020
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by wide ranging and heterogeneous changes in social and cognitive abilities, including deficits in orienting attention during early processing of stimuli. Investigators
Guoyao Lin, Guoyao Lin, Yanling Cui, Jiajing Zeng, Liang Huang   +4 more
doaj   +1 more source

Brief report : the level and nature of autistic intelligence revisited [PDF]

, 2008
Owing to higher performance on the Raven’s Progressive Matrices (RPM) than on the Wechsler Intelligence Scales (WIS), it has recently been argued that intelligence is underestimated in autism.
Bölte, Sven, Dziobek, Isabel, Poustka, Fritz   +2 more
core   +1 more source

The Neuropsychology of Autistic Spectrum Disorders [PDF]

Developmental Neuropsychology, 2005
DEVELOPMENTAL NEUROPSYCHOLOGY, 27(3), 307-310 Copyright © 2005, Lawrence Erlbaum Associates, Inc. The Neuropsychology of Autistic Spectrum Disorders Natacha Akshoomoff Department of Psychiatry University of California, San Diego Child and Adolescent Services Research Center Children's Hospital, San Diego This special issue represents the work from ...
openaire   +3 more sources

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Autism and ADHD in Tuberous Sclerosis

Pediatric Neurology Briefs, 1994
In a population-based psychiatric study of 28 patients with tuberous sclerosis (TS) at the University of Goteborg, Sweden, 24 had autistic symptoms and 17 met all DSM-III-R criteria for autistic disorder (AD).
J Gordon Millichap
doaj   +1 more source