Results 71 to 80 of about 183,947 (263)

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Moral foundations in autistic people and people with systemizing minds

Molecular Autism
Background Do autistic people share the same moral foundations as typical people? Here we built on two prominent theories in psychology, moral foundations theory and the empathizing–systemizing (E–S) theory, to observe the nature of morality in autistic ...
Yeshaya David M. Greenberg, Rosemary Holt, Carrie Allison, Paula Smith, Robbie Newman, Theo Boardman-Pretty, Jonathan Haidt, Simon Baron-Cohen   +7 more
doaj   +1 more source

Adaptation to different communicative contexts: an eye tracking study of autistic adults

Journal of Neurodevelopmental Disorders, 2019
Background Learning through social observation (i.e., watching other people interact) lays the foundation for later social skills and social cognition. However, social situations are often complex, and humans are only capable of attending to one aspect ...
Julia Parish-Morris, Ashley A. Pallathra, Emily Ferguson, Brenna B. Maddox, Alison Pomykacz, Leat S. Perez, Leila Bateman, Juhi Pandey, Robert T. Schultz, Edward S. Brodkin   +9 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Autistic and transgender/gender diverse people’s experiences of health and healthcare

Molecular Autism
Background Autistic people and transgender/gender diverse people experience poorer healthcare experiences and greater risk of diagnosed, suspected, and assessment recommended health conditions, compared to non-autistic and cisgender individuals ...
Kate Green, Elizabeth Weir, Lily Wright, Carrie Allison, Simon Baron-Cohen   +4 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Does baseline language ability predict response to early intervention for toddlers with early signs of autism? Evidence from a caregiver-mediated program

Frontiers in Human Neuroscience
BackgroundCaregiver-mediated interventions (CMIs) for young autistic children are supported by mounting evidence of efficacy. Attempts to identify child-level factors that predict treatment response have yielded inconsistent findings, with very few such ...
Jessica Ann Brian, Jessica Ann Brian, Ian Roth, Lonnie Zwaigenbaum, Isabel Smith, Lori-Ann Rosalind Sacrey, Kate Bernardi, Stacey MacWilliam, Sara Daoud, Erin Dowds, Sanne Jilderda, Samara Osten, Anna Michelis, Abbie Solish   +13 more
doaj   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source