Results 121 to 130 of about 585,856 (303)

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Representations of autism: Implications for community healthcare practice

, 2009
The work presented in this paper is part of a larger project in which online asynchronous discussion groups were employed to examine how a range of contributors - including people with autism, parents of people with autism, and professionals working ...
Brownlow, Charlotte, O'Dell, Lindsay
core  

A Community-Based Accommodation Program for Adults with Autism and Mental Retardation [PDF]

, 2009
There is a paucity of treatment literature for significant and intractable behavior problems in adults with autism and mental retardation. Four adults with autism, severe to profound mental retardation, and serious, long-term behavior problems ...
Fox, Robert A., Holtz, Casey A., Moist, Amie M.   +2 more
core   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +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

Understanding the Housing and Support Experience of People With Complex Disability in Australia: A Qualitative Analysis of Submissions to the Disability Royal Commission

Australian Journal of Social Issues, EarlyView.
ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz, Fiona Carey, Libby Witts, Jessie Spence, Peter Mulherin, Megan Topping, Di Winkler, Jacinta Douglas   +7 more
wiley   +1 more source

Access to services for autistic people across Europe

Molecular Autism
Background Autistic communities in Europe continue to face difficulties accessing services despite increasing rates of autism diagnosis in recent years.
Siti Nurnadhirah Binte Mohd Ikhsan, Rosemary Holt, Joyce Man, Tracey Parsons, Rik Schalbroeck, Amber Ruigrok, Aurélie Baranger, Carrie Allison, Mary Doherty, Katrien Van den Bosch, Jerneja Terčon, Pierre Violland, Anjuli Ghosh, James Cusack, Simon Baron-Cohen   +14 more
doaj   +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

Cambridgeshire Lifespan Autism Spectrum Service Clinic: Managing Demand, Capacity and Flow of Referrals for Adult Autism Assessment

BJPsych Open
Aims Referrals for adult autism assessment to the Cambridgeshire Lifespan Autism Spectrum Service (CLASS) have increased from 430 in 2019 to 887 in 2023, with demand exceeding capacity.
Janine Robinson, Jasmine Taylor, Mark Squire, Andrea Woods, Irene James   +4 more
doaj   +1 more source

Understanding Inequality Within a Personalised System of Disability Support: Australian Children With Disabilities' Unmet Support Needs

Australian Journal of Social Issues, EarlyView.
ABSTRACT Disability support has shifted towards models of personalised care, which critics argue may contribute to increased inequalities. There is limited systematic evidence investigating inequalities in support among children with disabilities. To investigate inequalities in support, a survey of parents of children with disabilities aged 2–17 was ...
Martin O'Flaherty, Jessica Hill, Jennifer Smith‐Merry   +2 more
wiley   +1 more source