Children with severe intellectual disabilities are at increased risk of presenting with self-injurious, aggressive and destructive behaviour. Severity of these behaviours is an important predictor of psychological and behavioural service use by people with intellectual disabilities. However, studies suggest that the needs of children with intellectual disabilities and their families are not being met. The aims of the present study were to: (1) describe the self-injurious, aggressive and destructive behaviours and subsequent support needs of children with severe intellectual disabilities attending special schools in one major city within the UK, (2) compare teacher and primary carer ratings of behaviour and service need and (3) explore the extent to which the needs of children with intellectual disabilities are being met in terms of contact with relevant specialist services. Questionnaires were completed by teachers and primary family carers of children with a severe intellectual disability. Results indicated that at least 5.3% and 4.1% of children showed at least one behaviour at a clinically significant frequency and management difficulty respectively. Primary carers identified more children with significant behaviour difficulties and support needs than teachers. The odds for children presenting with high levels of the behaviours of interest for having a service need for behavioural intervention were at least 13 times those for children not showing the behaviours, yet only doubled for contact with a specialist relevant health-care professional. These results quantify the magnitude of the substantial gap between level of need and relevant support received.
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http://dx.doi.org/10.1016/j.ridd.2015.07.019 | DOI Listing |
BMJ Case Rep
January 2025
Division of Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1).
View Article and Find Full Text PDFBiol Open
January 2025
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Cell fate decisions during cortical development sculpt the identity of long-range connections that subserve complex behaviors. These decisions are largely dictated by mutually exclusive transcription factors, including CTIP2/Bcl11b for subcerebral projection neurons and BRN1/Pou3f3 for intra-telencephalic projection neurons. We have recently reported that the balance of cortical CTIP2-expressing neurons is altered in a mouse model of DDX3X syndrome, a female-biased neurodevelopmental disorder associated with intellectual disability, autism spectrum disorder, and significant motor challenges.
View Article and Find Full Text PDFEpileptic Disord
January 2025
Child Neurology and Psychiatry Unit, Dipartimento materno-infantile, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Mol Genet Genomic Med
February 2025
Department of Chemistry and Molecular Biology, Gothenburg University, Gothenburg, Sweden.
Background: SYNGAP1 encodes a Ras/Rap GTPase-activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been associated with a spectrum of neurodevelopmental disorders characterized by developmental delays, intellectual disabilities, epilepsy, hypotonia, and the features of autism spectrum disorder. The aim of this study was to identify a novel SYNGAP1 gene variant linked to neurodevelopmental disorders and to evaluate the pathogenicity of the detected variant.
View Article and Find Full Text PDFAging Cell
January 2025
Molecular Biology and Genetics Unit, Transcription and Disease Laboratory, Jawaharlal Nehru Centre for Advanced Scientific Research, Bengaluru, India.
SYNGAP1 is a Ras GTPase-activating protein that plays a crucial role during brain development and in synaptic plasticity. Sporadic heterozygous mutations in SYNGAP1 affect social and emotional behaviour observed in intellectual disability (ID) and autism spectrum disorder (ASD). Although neurophysiological deficits have been extensively studied, the epigenetic landscape of SYNGAP1 mutation-mediated intellectual disability is unexplored.
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