Results 101 to 110 of about 171,338 (299)

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

Understanding autism: insights from mind and brain

, 2003
Autism is a developmental disorder characterized by impaired social interaction and communication as well as repetitive behaviours and restricted interests. The consequences of this disorder for everyday life adaptation are extremely variable.
Hill, E.L., Frith, U., Hill, Elisabeth L., Uta Frith, Frith, Uta, Elisabeth L. Hill   +5 more
core   +1 more source

Why are autism spectrum conditions more prevalent in males? [PDF]

, 2011
Autism Spectrum Conditions (ASC) are much more common in males, a bias that may offer clues to the etiology of this condition. Although the cause of this bias remains a mystery, we argue that it occurs because ASC is an extreme manifestation of the male ...
Simon Baron-Cohen, Michael V Lombardo, Lombardo Michael V., Lombardo, Michael V, Bonnie Auyeung, Bhismadev Chakrabarti, Rebecca Knickmeyer, Ashwin, Emma, Baron-Cohen, Simon, Knickmeyer Rebecca, Auyeung, Bonnie, Chakrabarti Bhismadev, Knickmeyer, Rebecca, Auyeung Bonnie, Michael V. Lombardo, Auyeung, Bonnie; id_orcid, Baron-Cohen Simon, Ashwin Emma, Chakrabarti, Bhismadev, Emma Ashwin, Lombardo, Michael V., Chakrabarti, Bhisma   +21 more
core   +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

The group-based social skills training SOSTA-FRA in children and adolescents with high functioning autism spectrum disorder - study protocol of the randomised, multi-centre controlled SOSTA - net trial

, 2013
Background: Group-based social skills training (SST) has repeatedly been recommended as treatment of choice in high-functioning autism spectrum disorder (HFASD). To date, no sufficiently powered randomised controlled trial has been performed to establish
Christine M Freitag, Elsuni, Leyla, Leyla Elsuni, Stephan Bender, Meinhard Kieser, Cholemkery, Hannah, Hannah Cholemkery, Kroeger, Anne K., Anne K Kroeger, Kieser, Meinhard, Bender, Stephan, Freitag, Christine M., Kunz, Cornelia Ursula, Cornelia Ursula Kunz   +13 more
core   +1 more source

Episodic Memory and Episodic Future Thinking Impairments in High-Functioning Autism Spectrum Disorder: An Underlying Difficulty With Scene Construction or Self-Projection? [PDF]

, 2013
Objective: There appears to be a common network of brain regions that underlie the ability to recall past personal experiences (episodic memory) and the ability to imagine possible future personal experiences (episodic future thinking).
Lind, Sophie E., Lind, S. E., Peel, Anna, Lind, S, City University London, Williams, David M., Williams, D.M., Bowler, D.M., Lind, S.E., Bowler, D. M., Bowler, Dermot M., Williams, D. M., Peel, A.   +11 more
core   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

EFFECT OF PIVOTAL RESPONSE TREATMENT ON COMMUNICATION SKILLS AND BRAIN WAVES IN CHILDREN WITH AUTISM SPECTRUM DISORDERS

IBRO Neuroscience Reports, 2023
Mohammad Rezaei, Farzad Weisi
doaj   +1 more source

A close eye on the eagle-eyed visual acuity hypothesis of autism [PDF]

, 2011
Autism spectrum disorders (ASD) have been associated with sensory hypersensitivity. A recent study reported visual acuity (VA) in ASD in the region reported for birds of prey. The validity of the results was subsequently doubted.
Henrik Walter, Gapp, V., Walter, H., Weber Bernhard, Hainz, D, Poustka Fritz, Ciaramidaro, Angela, Gapp, V, Weber, B, Fritz Poustka, Hainz, D., Schlitt, Sabine, Ciaramidaro Angela, Volker Gapp, Ciaramidaro, A, Weber, Bernhard, Schlitt Sabine, Schirman Shella, Gapp Volker, Hainz Daniela, Schlitt, S, Ciaramidaro, A., Hainz, Daniela, Schirman, S., Christine Freitag, Bolte, S, Walter, Henrik, Shella Schirman, Angela Ciaramidaro, Gapp, Volker, Freitag Christine, Walter, H, Bernhard Weber, Bölte, Sven, Freitag, C, Sabine Schlitt, Schlitt, S., Freitag, Christine M., Poustka, F., Bölte Sven, Daniela Hainz, Walter Henrik, Schirman, S, Schirman, Shella, Weber, B., Freitag, Christine, Sven Bölte, Freitag, C., Poustka, F, Poustka, Fritz   +49 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source