Results 121 to 130 of about 132,766 (257)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Neurotransmitters in Auditory Processing Disorders and Neurodevelopmental Disorders: A Common Neurobiological Substrate? [PDF]

Children (Basel)
Bianchino A, Migliorelli A, Manuelli M, Bianchini C, Stomeo F, Pelucchi S, Ciorba A, Sacchetto L, Palma S, Monzani D.   +9 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Dietary Patterns and Feeding Challenges in Children with Neurodevelopmental Disorders. [PDF]

Nutrients
Torres-Collado L, García-de-la-Hera M, Company-Devesa V, Compañ-Gabucio LM.   +3 more
europepmc   +1 more source

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

Measuring Child Disadvantage: Comparing Multidimensional and Socioeconomic Approaches for Predicting Developmental Outcomes

Australian Journal of Social Issues, EarlyView.
ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong, Fiona Mensah, Elodie O'Connor, Shuaijun Guo, Sharon Goldfeld, Meredith O'Connor, Cindy Pham, Sarah Gray   +7 more
wiley   +1 more source

Genetic alterations in SUPT6H are associated with neurodevelopmental disorders. [PDF]

Biochim Biophys Acta Mol Basis Dis
Carabelli B, Kim HG, Ku B, Berdasco C, Jeong YY, Lai T, Jang MH, Boison D, Kim Y.   +8 more
europepmc   +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

Trends in the age-standardized prevalence of neurodevelopmental disorders in South America, 1990-2023. [PDF]

Arq Neuropsiquiatr
Lopez-Espejo M.
europepmc   +1 more source

Australian Practitioners' Beliefs, Confidence, and Training Needs for Delivering Behaviour Support to Children and Young People in Out‐of‐Home Care

Australian Journal of Social Issues, EarlyView.
ABSTRACT Children in out‐of‐home care (OOHC) frequently present with complex behavioural needs. In New South Wales (NSW), behaviour support plans (BSPs) are mandated when restrictive practices, including psychotropic medication, are used. Little research has examined whether the statutory workforce is adequately prepared to meet behaviour support ...
Manisha Abayakoon Stanborough, Kelly‐Ann Allen, Emily Berger, Mikaela Stanborough, Erin Leif   +4 more
wiley   +1 more source