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Showing results for "autism"
Rett syndrome is a rare but serious neurological disorder that affects about 1 in 9,000 girls. Even more rarely, boys may be affected.
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Characterizing Transdiagnostic Processes Underlying the Drive to Socially Engage: A Multimeasurement Factor Analytic InvestigationAltered drive to socially engage is a transdiagnostic feature across multiple psychopathologies. Yet, lack of clarity regarding specific processes that constitute social drive, along with insufficient measurement methods, has hindered understanding in this area. This study ascertained the feasibility of approximating difficulties within specific fine-grained social drive processes as proposed by 2 theoretical frameworks: “orienting,” “wanting,” “pursuing,” “liking,” “learning,” and “reticence” within a reward processing framework and “orienting,” “seeking and maintaining,” and “liking” within a social motivation framework.
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Factors Influencing Postoperative Experiences in Adult Cochlear Implant Recipients: A Multistakeholder PerspectiveTo explore factors influencing postoperative experiences of adult cochlear implant (CI) recipients, determine the impact of each factor, and conceptualize recipients' postoperative journey.
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Child protection involvement of children of mothers with intellectual disabilityChildren born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.
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How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication SyndromeMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.
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The phenotype associated with a large deletion on MECP2Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.
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Severity Assessment in CDKL5 Deficiency DisorderA severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.
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Building the repertoire of measures of walking in Rett syndromeThis study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome.
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Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorderEpilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency