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Abstract: The Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder that causes a range of intellectual disability from mild to severe. In this study, we used standard tools to psychometrically characterize the specific neuropsychological phenotype of WHS. We studied 57 individuals with WHS, ranging in age from 2.6 to 28.6 years representing 70% of the certified Italian WHS population. Results obtained by administering Griffiths’ Mental Developmental Scales and the Vineland Adaptive Behavior Scale revealed a typical WHS neuropsychological phenotype characterized by specific strengths and weaknesses. Despite their severe cognitive impairment, in both scales, patients showed better communication and social interaction skills compared to visuo-motor abilities. Results of our study could bring to the development of new and more effective treatments for individuals affected by WHS: based on neuropsychological phenotype description, it should be possible to design specific rehabilitation programs. These programs would then be aimed at improving rehabilitation protocols to optimize the developmental potential and personal independence of individuals with WHS and thus to improve their quality of life. Keywords: Neuropsychological phenotype, intellectual disability, Wolf-Hirschhorn Syndrome, WHS, 4p deletion.Download Full Article |
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Abstract: Number sense, counting and logical thinking were assessed in 14 siblings of children with Mathematical Learning Disabilities (MLD) and in 41 age matched children without family members with MLD. The children were tested in kindergarten and followed up in grade 1. A 0-100 number line estimation paradigm with three formats (Arabic digits, dots and number) was used as a measure of number sense. Results reveal that siblings of children with MLD are less proficient in number line placements compared to non-siblings, with both groups having a logarithmic representation in kindergarten and grade 1. Siblings also differ from non siblings on procedural and conceptual counting knowledge and logical thinking in kindergarten. In addition, our findings suggest that nnumber line estimation in kindergarten is especially predictive for untimed procedural calculation performances in grade 1, whereas procedural counting knowledge is related to timed fact retrieval skills in grade 1. Our findings also reveal that MLD had a familial aggregation. Clinical siblings especially differ from non-clinical siblings on the estimation with Arabic numbers (in kindergarten and grade 1) and number words (in grade 1), pointing to the fact that especially symbolic number line estimation tasks on a 0-100 scale can be used as screeners for MLD. Implications for the understanding and diagnosis of MLD are discussed. Keywords: Mathematical learning disabilities, number sense, siblings, number line estimation, Arabic numbers, number words, counting, logical thinking, arithmetic.Download Full Article |
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Abstract: Introduction: Traditional rehabilitation does not provide adequate repetitions for maximal motor recovery in the clinic and home exercise programs (HEPs) have low compliance rates. Personalized virtual reality (PVR) is a promising low-cost therapeutic tool for improving compliance by incorporating the client's interests, abilities, and goals into a motivating and engaging intervention using internet games. Objectives: The current study aimed to develop and refine a clinic-to-home PVR intervention, determine its feasibility and usability in an outpatient rehabilitation clinic and as a HEP, and examine its effects on motivation/engagement, compliance, motor repetitions, and functional motor performance. Methods: The PVR system utilizes a Microsoft Kinect sensor to track the participants’ movements, free software to translate movements to keystrokes, and free internet games. The therapist matched participants’ interests to internet games, customized therapeutic movements for game play, and increased the movement thresholds for game activation as participants improved. Two participants who had strokes resulting in upper extremity (UE) hemiplegia were recruited. The participants attended outpatient occupational therapy (OT) services twice weekly. Following training, the participants used the PVR system at home in place of their UE HEP. They continued to receive traditional OT once a week and clinic-PVR once a week for 5-8 weeks. Results: The PVR intervention was successfully implemented in the clinic and the clients’ homes. PVR increased motivation and treatment compliance. The clients exhibited improvements in UE active range of motion, function, symptoms, and occupational performance. Conclusion: Preliminary evidence suggests PVR can improve motivation, compliance, function, and occupational performance. However, larger scale studies and protocol refinement are necessary. Keywords: Occupational therapy, client-centered, stroke, hemiparesis, motivation, occupational performance, home exercise program, upper extremity rehabilitation.Download Full Article |
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Abstract: Partnering with families to administer and interpret assessments for preschool children with disabilities is a cornerstone of effective early childhood practice. Parent-professional partnership in the assessment process encourages effective intervention practices, including targeting of appropriate goals and using strategies based on family cultural and daily practices. An assessment approach that focuses on collaborative practices between professionals and parents of young children with cognitive and other developmental delays is presented. Two strategies shown to provide a common language for parent and professional communication and facilitate cooperation between professionals and parents are described. Parent-completed developmental screening tests and parent assistance with completion of curriculum-based assessments are also discussed in the context of a tiered approach to intervention. A case study is presented to illustrate these strategies in practice. Keywords: Families, early intervention, and assessment.Download Full Article |
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Abstract: Introduction: Aggression is a common behavioral problem seen in patients with intellectual disabilities (ID). The safety and efficacy of second generation antipsychotics (SGAs), mood stabilizers and antidepressants in the management of aggression in these individuals have minimally been studied. This review aims to 1) summarize the studies conducted using second generation antipsychotics, mood stabilizers and antidepressants in treating aggressive behaviors in patient with ID and 2) determine based on the existing literature, which medications have been examined in the most rigorous study design that might suggest the most efficacy for use in clinical practice. Methods: Literature searches using PUBMED Central, CINAHL Plus, PsychINFO, and Embase databases were conducted using the following terms: intellectual disability/disabilities, mental retardation, developmental disability/disabilities, aggression, agitation, behavior disorder, adult, treatment, management. Studies predominantly including children with ID, and autism/pervasive developmental disabilities spectrum disorders were excluded. Analyses were done by class of medication: SGAs, mood stabilizers and antidepressants. The primary outcome measure was reduction in aggressive or self injurious behaviors as measured by each individual study. Results:The most rigorous study designs found using these agents were randomized controlled trials (RCT). A total of 10 RCTs were found, the majority being with risperidone (3) and lithium (2). Treatment with risperidone showed reduction in aggression when compared to placebo in most RCTs with the exception of one study in which risperidone was not better than placebo. Both lithium studies showed reduction in aggression when compared to placebo. The most abundant literature exists in retrospective chart reviews. The most commonly studied agent was risperidone which showed reduction in aggression in majority of the studies. Conclusions: Limited data exists for treatment of aggression in adults with ID. There are very few studies examining pharmacologic agents using RCTs. Given that risperidone and lithium were the most commonly studied agents in the most rigorous experimental design, it is suggested that these two agents prove efficacious for treatment of aggression in patients with ID. Limitations to most of these studies included concomitant psychotropic administration with variations in types and dosing, severity of ID, and the idea that a wide variety of aggression scales were used to assess outcome. Further research with more scientific rigor is required in this field. Keywords: Intellectual disability, mental retardation, treatment.Download Full Article |



