Purpose: The objectives of this study was to develop an International Classification of Functioning, Disability and Health-Children and Youth (ICF-CY) based questionnaire for children with autism, investigate the inter-rater reliability of the questionnaire and assess functional performance in children with autism.
Method: The ICF-CY based questionnaire for children with autism comprised 118 items was designed with reference the ICF-CY structure. The study protocol was divided into two parts. In the first part, the inter-rater reliability of the questionnaire was investigated using information from 26 children (aged 3-6 years) with autism and using the intra-class correlation coefficients to estimate reliability. The second part of the study aimed to assess functional performance of another independent sample (136 children, aged 3-6 years) utilizing the questionnaire. Mean scores were compared by nonparametric statistic.
Results: The inter-rater reliability for each domains of the questionnaire was found to be moderate to high (intra-class correlation coefficients ranged from 0.72 to 0.97). Children with autism had major problems in voice and speech functions. They had high dependency when executing individual activities of learning and applied knowledge. They also required maximal assistance while engaging in social activities related to conversation and major life categories.
Conclusions: This preliminary study shows that ICF-CY based questionnaire has good reliability and can reflect the functional profile of preschool children with autism. However, further study is needed to confirm other psychometric characteristics.
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http://dx.doi.org/10.3109/09638288.2012.705946 | DOI Listing |
Autism Res
January 2025
Center for Medical Genetics and Hunan key Laboratory of Medical Genetics, MOE Key Laboratory of Rare Pediatric Disease, School of Life Sciences, Central South University, Changsha, Hunan, China.
Neurodevelopmental disorders (NDDs) encompass a group of conditions that impact brain development and function, exhibiting significant genetic and clinical heterogeneity. NAA15, the auxiliary subunit of the N-terminal acetyltransferase complex, has garnered attention due to its association with NDDs. However, the precise role of NAA15 in cortical development and its contribution to NDDs remain elusive.
View Article and Find Full Text PDFAm J Hum Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address:
Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.
View Article and Find Full Text PDFJ Dev Behav Pediatr
January 2025
Department of Pediatrics and Norton Children's Research Institute, School of Medicine, University of Louisville, Louisville, KY.
Objective: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by social communication differences and restricted interests. One proposed biologic mechanism underlying ASD is oxidative stress, leading to the clinical use of glutathione based on anecdotal reports of improved behavior in autistic children. In this pilot study, we tested this observation using a randomized clinical trial format to collect preliminary data on glutathione safety and efficacy.
View Article and Find Full Text PDFSci Adv
January 2025
Department of Neuroscience, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
The pathophysiology of neurodevelopmental disorders involves vulnerable neural populations, including striatal circuitry, and convergent molecular nodes, including chromatin regulation and synapse function. Despite this, how epigenetic regulation regulates striatal development is understudied. Recurrent de novo mutations in are associated with intellectual disability and autism.
View Article and Find Full Text PDFWorld J Clin Cases
January 2025
Department of Medical Imaging, Chongqing University Central Hospital, Chongqing 400014, China.
Foot reflexology is a non-invasive and safe complementary therapy that works by massaging the reflex zones of the feet and exerts systemic or whole-body regulation through meridian nerve conduction. This therapy is commonly used in the treatment of various conditions such as autism and Parkinson's disease. However, there is limited reporting on the use of foot reflexology therapy for infants with sensorineural hearing loss (SNHL).
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