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Tsatsanis, Katherine; Dartnall, Nancy A.; Cicchetti, Domenic V.; Sparrow, Sara S.; Klin, Ami; Volkmar, Fred R.

doi:10.1023/a:1022274219808

Cited by 78 publications

(30 citation statements)

References 8 publications

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“…The Leiter-R Brief IQ is comprised of four subscales: Figure Ground, Form Completion, Sequential Order, and Repeated Patterns. The psychometric properties of the Leiter-R Brief IQ are excellent, with Cronbach's alphas ranging from 0.75-0.88 across subtests and support for concurrent validity (Tsatsanis et al, 2003; Hooper & Bell, 2006). The Leiter-R has been used extensively to characterize cognitive ability in populations with intellectual disabilities, including FXS (e.g., Glenn & Cunningham, 2005; Hooper et al, 2000; Skinner et al, 2005).…”

Section: Methodsmentioning

confidence: 96%

Reading and Phonological Skills in Boys with Fragile X Syndrome

Klusek

Hunt²,

Mirrett

et al. 2014

J Autism Dev Disord

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Introduction Reading skills are critical for the success of individuals with intellectual disabilities. Literacy has received little attention in fragile X syndrome (FXS), the most common inherited cause of intellectual impairment. This study examined the literacy profile of FXS and tested phonological awareness and autism spectrum disorder (ASD) symptoms as predictors of literacy. Methods Boys with FXS (n = 51; mean age 10.2 years) and mental-age-matched boys with typical development (n = 35) participated in standardized assessments of reading and phonological skills. Results Phonological skills were impaired in FXS, while reading was on-par with that of controls. Phonological awareness predicted reading ability and ASD severity predicted poorer phonological abilities in FXS. Conclusion Boys with FXS are capable of attaining reading skills that are commensurate with developmental level and phonological awareness skills may play a critical role in reading achievement in FXS.

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Section: Methodsmentioning

confidence: 96%

Reading and Phonological Skills in Boys with Fragile X Syndrome

Klusek

Hunt²,

Mirrett

et al. 2014

J Autism Dev Disord

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“…The ADOS is an objective test that is regarded as the standard for autism classification (Falkmer, Anderson, Falkmer, & Horlin, 2013; Lord et al, 1999). The Leiter-R is an objective nonverbal test of cognitive abilities that has been used for testing children with autism (Grondhuis & Mulick, 2013; Shah & Holmes, 1985; Tsatsanis et al, 2003). The Reynell Developmental Language Scales is another objective test designed to evaluate both expressive and receptive language in young children, including those with autism (Kaale, Fagerland, Martinsen, & Smith, 2014; Kjellmer et al, 2012; Reynell & Gruber, 1990).…”

Section: Methodsmentioning

confidence: 99%

Environmental enrichment as a therapy for autism: A clinical trial replication and extension.

Woo

Donnelly

Steinberg-Epstein

et al. 2015

Behavioral Neuroscience

104

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Based on work done in animal models showing that autism-like symptoms are ameliorated following exposure to an enriched sensorimotor environment, we attempted to develop a comparable therapy for children with autism. In an initial randomized controlled trial, children with autism who received sensorimotor enrichment at home for six months had significant improvements in both their cognitive ability and the severity of their autism symptoms (Woo & Leon, 2013). We now report the outcomes of a similar randomized controlled trial in which children with autism, aged 3-6 years old, were randomly assigned to groups that received either daily sensorimotor enrichment, administered by their parents, along with standard care, or they received standard care alone. After six months, enriched children showed statistically significant gains in their IQ scores, a decline in their atypical sensory responses, and an improvement in their receptive language performance, compared to controls. Furthermore, after six months of enrichment therapy, 21% of the children who initially had been given an autism classification, using the Autism Diagnostic Observation Schedule, improved to the point that, although they remained on the autism spectrum, they no longer met the criteria for classic autism. None of the standard care controls reached an equivalent level of improvement. Finally, the outcome measures for children who received only a subset of sensory stimuli were similar to those receiving the full complement of enrichment exercises. Sensorimotor enrichment therapy therefore appears to be a cost-effective means of treating a range of symptoms for children with autism.

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“…Briefly, the Leiter International Performance Scale-Revised (Leiter R) was used [24–26] . The test consists of two test batteries; Visual Function and Reasoning battery and Memory and Attention battery.…”

Section: Methodsmentioning

confidence: 99%

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

Borgwardt

Stensland

Olsen³

et al. 2015

Orphanet J Rare Dis

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BackgroundAlpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial coarsening and musculoskeletal abnormalities.MethodsTo study the genotype-phenotype relationship for alpha-mannosidosis 66 patients were included. Based on the predicted effect of the mutations and the subcellular localisation of mutant MAN2B1 in cultured cells, the patients were divided into three subgroups.Clinical and biochemical data were collected. Correlation analyses between each of the three subgroups of genotype/subcellular localisation and the clinical and biochemical data were done to investigate the potential relationship between genotype and phenotype in alpha-mannosidosis.Statistical analyses were performed using the SPSS software. Analyses of covariance were performed to describe the genotype-phenotype correlations. The phenotype parameters were modelled by the mutation group and age as a covariate. P values of <0.05 were considered as statistically significant.ResultsComplete MAN2B1 genotypes were established for all patients. We found significantly higher scores in the Leiter-R test, lower concentrations of CSF-oligosaccharides, higher point scores in the Bruininks-Oseretsky Test of Motor Proficiency subtests (BOT-2); Upper limb coordination and Balance, and a higher FVC% in patients in subgroup 3, harbouring at least one variant that allows localisation of the mutant MAN2B1 protein to the lysosomes compared to subgrou 2 and/or subgroup 1 with no lysosomal localization of the mutant MAN2B1 protein.ConclusionOur results indicate a correlation between the MAN2B1 genotypes and the cognitive function, upper limb coordination, balance, FVC% and the storage of oligosaccharides in CSF. This correlation depends on the subcellular localisation of the mutant MAN2B1 protein.

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Cited by 78 publications

References 8 publications

Reading and Phonological Skills in Boys with Fragile X Syndrome

Reading and Phonological Skills in Boys with Fragile X Syndrome

Environmental enrichment as a therapy for autism: A clinical trial replication and extension.

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

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