Results 111 to 120 of about 105,746 (303)

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

Quality of life of mothers of children with autistic disorder

Al-Azhar Assiut Medical Journal
Background and aim Quality of life (QoL) assessment for families of autistic children has become a crucial research topic. Purpose of this study was to evaluate the QoL of mothers of children diagnosed with autistic disorder.
Amira M.M. Hamed, Mohammed A. Aladawy, Eman F. Gaad, Aml R.A. Khodery   +3 more
doaj   +1 more source

Brief Report: Cognitive Processing of Own Emotions in Individuals with Autistic Spectrum Disorder and in Their Relatives

, 2004
Difficulties in the cognitive processing of emotions—including difficulties identifying and describing feelings—are assumed to be an integral part of autism.
Sylvie Berthoz, Hill, Elisabeth L., Uta Frith, Frith, Uta, Berthoz, Sylvie, Elisabeth Hill   +5 more
core   +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

Exploring the links between sensory sensitivity, autistic traits and autism-related eating behaviours in a sample of adult women with eating disorders

Scientific Reports
This study examined the presence of autistic traits in a sample of adult women diagnosed with different Eating Disorders (ED), and explored the concurrent role of autistic traits and sensory sensitivity in influencing both their eating disorder ...
Gianmarco Ingrosso, Veronica Nisticò, Francesco Lombardi, Benedetta Morlacchi, Anna Chiara Cigognini, Margherita Oresti, Raffaella Faggioli, Anna Mottaran, Carolina Alberta Redaelli, Martina Tramontano, Laura Ranzini, Simona Anselmetti, Sara Bertelli, Orsola Gambini, Benedetta Demartini   +14 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

Resting state aperiodic and periodic EEG activity in preschool-aged autistic children: differences from neurotypical peers and links to language skills

Molecular Autism
Background The neural mechanisms underpinning language development in autism spectrum disorder remain unclear. While prior studies have identified associations between resting-state EEG absolute power and language skills in autistic children, none have ...
Yanru Chen, Meagan Tsou, Charles A. Nelson, Helen Tager-Flusberg, Carol L. Wilkinson   +4 more
doaj   +1 more source

Selective attention and perceptual load in autism spectrum disorder

, 2010
This thesis examines selective attention in young adults with Autism Spectrum Disorder (ASD). Existing literature regarding this issue is mixed; some research suggesting an overly-focused attentional style (Rincover & Ducharme, 1987) while others ...
Remington, A.M.
core  

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