Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications
ConclusionThe yield of genetic testing including microarray, fragile X (boys) and targeted gene panel was 12%. Gene panel did not increase diagnostic yield; however, we found an increase in rare variants in KIRREL3. Our findings reinforce the need for racial/ethnic diversity in large‐scale genomic databases used to identify variants that contribute to disease risk. We performed genetic testing including microarray, fragile X testing and targeted gene panel consistently sequencing 161 genes associated with ASD risk in a clinical population of 100 well characterized children with ASD. Copy number variants believed to contribute to ASD risk were identified in 12%.Gene panel did not increase diagnostic yield, however, we found an increase in rare variants in KIRREL3. Our findings also reinforce the need for racial/ethnic diversity in large‐scale genomic databases used to identify variants that contribute to disease risk.
These frameworks describe the skills, knowledge and behaviours needed by health and social care staff, and will be used to inform the development and planning of the current and future workforce.
This report outlines the development process, content, and global field-testing strategy of the WHO CST program. The CST program is designed to be feasible, scalable, and adaptable and appropriate for implementation in low-resource settings by nonspecialists. The program was informed by an evidence review utilizing a common elements approach and was developed through extensive stakeholder consultation and an iterative revision process. The program is intended for a global audience and was designed to be adapted to the cultural, socioeconomic, geographic, and resource context in which it is used to ensure that it is compreh...
BACKGROUND: Children are among the most susceptible groups of family violence and this is an important and worrying issue all over the world. Children with disabilities are more vulnerable to family violence. Children with autism are exposed to various typ...
New frameworks commissioned by Health Education England (HEE) will improve care and support for autistic people and people with learning disabilities.
Cyberpsychology, Behavior, and Social Networking,Volume 22, Issue 11, Page 747-748, November 2019.
This study investigated the impact of an adapted story grammar intervention on the listening comprehension of five children with ASD in kindergarten through second grade. The intervention embedded evidence-based practices shown to support the learning of children with ASD during story grammar instruction. All participating children demonstrated increased correct responding to fact and inference questions following intervention. Data suggest that all participants required visuals to participate in and learn from the intervention. Social validity data indicate the classroom teacher perceived the intervention as helpful and f...
NHS England has published data on the number of adult inpatients with a learning disability, autism or both, in a hospital providing specialist mental or behavioural health care.