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Handedness has been studied for association with language-related disorders because of its link with language hemispheric dominance. No clear pattern has emerged, possibly because of small samples, publication bias, and heterogeneous criteria across studies.
SAMStat is an efficient program to extract quality control metrics from fastq and SAM/BAM files. A distinguishing feature is that it displays sequence composition, base quality composition and mapping error profiles split by mapping quality. This allows users to rapidly identify reasons for poor mapping including the presence of untrimmed adapters or poor sequencing quality at individual read positions.
Autism and attention-deficit/hyperactivity disorder (ADHD) often co-occur. This survey of 288 New Zealand parents of children diagnosed with autism, ADHD, or both conditions, examined the relations between age of diagnosis and early atypical development, the age specialist consultation was needed and types of specialists seen.
Identifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts.
Britta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant
Child temperament and caregiver psychological distress have been independently associated with social-emotional difficulties among individuals with autism. However, the interrelationship among these risk factors has rarely been investigated.
The provision of timely, effective, and socially valid non-pharmacological intervention is at the core of efforts to support the development of young autistic children. These efforts are intended to support children to develop skills, empower their caregivers, and lay the foundation for optimal choice, independence, and quality of life into adulthood.
Andrew Videos Whitehouse Watch and listen to Andrew PhD Deputy Director (Research); Angela Wright Bennett Professor of Autism Research at The Kids
Little is known about parent preferences regarding delivery methods of early interventions. This research examined, through parent report, the current and preferred delivery methods of seven common educational early interventions accessed by New Zealand children with autism spectrum disorder.
Acute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells often carry complex karyotypes and mutations in known AML-associated oncogenes.