Results 51 to 60 of about 59,438 (255)

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Prevalence of Mood Disorders among Autistic Children: A review article

SVU - International Journal of Medical Sciences
Background: Autism spectrum disease (ASD) represented as a collection of neurodevelopmental disorders marked by reduced reciprocal socializations and communications. Mood conditions are frequent in autism spectrum disease (ASD). Objectives: The present
Khaled Abd-allah Abd-elbaser , Abdallah Mohammed Elnasr*, Nessren Ali Mohmmed , Ali Helmi Bakri   +3 more
doaj   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source

Subthreshold Autism Spectrum in a Patient with Anorexia Nervosa and Behçet’s Syndrome

Case Reports in Psychiatry, 2020
Recently, increasing research stressed the presence of subthreshold autistic traits in patients with other psychiatric conditions. In this framework, a significant relationship between anorexia nervosa (AN) and the autism spectrum has been frequently ...
L. Dell’Osso, B. Carpita, I. M. Cremone, F. Mucci, A. Salerni, D. Marazziti, C. Carmassi, C. Gesi   +7 more
doaj   +1 more source

Evaluating the Effectiveness of Using Virtual Reality Interventions on Children and Adolescents with Autism Spectrum Disorder: A Systematic Review [PDF]

Journal of Evidence Based Health Policy, Management & Economics, 2023
Background: Autism spectrum disorder (ASD) is a Psychopathic disorder characterized by abnormal communication and verbal behaviors. ASD is very common in children, affecting about 1 in 160 individuals, and the symptoms of this disorder appear before the ...
Ghasem Alizadeh-Dizaj, Samira Raoofi, Shiva Khoshsirat, Shahla Damanabi   +3 more
doaj  

Autism spectrum disorders (ASD) in Africa: a perspective

African Journal of Psychiatry, 2011
The universal occurrence of autism spectrum disorders (ASD) was queried about twenty-six years ago. It was thought to occur only in western industrialized countries with high technological development. Over the last decade, knowledge about ASD and its prevalence has been documented as being on the rise in different regions of the world, with most ...
Bakare, MO, Munir, KM
openaire   +4 more sources

Cortical Network Overconnectivity Relates to Sensory, Cognitive, and Social Dimensions in Young Children With Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT The heterogeneity in both the neurobiological mechanisms and the phenotypic presentations of autism spectrum disorder (ASD) poses a major challenge to clinical and translational research. Alterations in functional connectivity (FC) have been associated with ASD, yet it remains unclear whether and how divergent brain network properties may ...
Borja Rodríguez‐Herreros, Ahmad Mheich, Joana Maria Almeida Osório, Sonia Richetin, Vincent Junod, Lorène Arnold, Victoria Aeschbach, Lilia Nora Adamou, Katherina Gschwend, Laura Mendes, David Romascano, Paola Yu, Marine Jequier Gygax, Anne M. Maillard, Micah M. Murray, Mahmoud Hassan, Nadia Chabane   +16 more
wiley   +1 more source

Through Parents' Eyes: Perspectives on Child Development and Family Experience During ESDM Intervention

Autism Research, EarlyView.
ABSTRACT Early intensive intervention for autistic children aims to support developmental progress in social and communication domains. Although outcomes are typically assessed using standardized measures of child development, parental perspectives during early intervention remain largely understudied.
Kenza Latrèche, Fiona Journal, Michel Godel, Martina Franchini, Nada Kojovic, David Cimasoni, Marcin Czajkowski, Lucie Delieutraz, Chloé Laubu, Marie Schaer   +9 more
wiley   +1 more source