Journal of pediatric neuropsychology最新文献

Background: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare genetic condition caused by germline mutations in the phosphatase and tensin homologue (PTEN) gene with a phenotype that includes macrocephaly, cancer predisposition, developmental delay, increased risk for autism spectrum disorder (ASD), and learning difficulties. Studies characterizing neurobehavioral profiles are limited.

Methods: This single-site, retrospective case series was completed in children who have PHTS followed in a cancer predisposition clinic. Demographic and clinical, data were abstracted from the medical record for 12 patients (mean age at clinic entry = 8.83 years; 42% female). Neuropsychological data were abstracted for 3 of 12 patients that were referred for testing (17-year-old female with attention-deficit/hyperactivity disorder [ADHD]; 15-year-old male with academic concerns and ASD, 12-year-old male with academic concerns).

Results: Of the 12 patients, macrocephaly was present in 100%, 58% had developmental delays during early childhood, and 17% had an ASD diagnosis. Results from neuropsychological testing showed Borderline to Average range global intellectual functioning (Standard Score range: 77 to 95) along with deficits in non-verbal reasoning, visual-motor integration, math achievement, and caregiver-rated adaptive skills.

Conclusion: Individuals with PHTS may present with cognitive difficulties that impact everyday functioning, with or without a neurodevelopmental diagnosis. Routine neurocognitive assessment should be considered in management guidelines.

The Feifer Assessment of Reading (FAR) is a comprehensive reading test for children ages 4 through 21 years. The FAR was designed to evaluate the underlying cognitive and linguistic processes of reading. It has 15 subtests to evaluate aspects of phonological development, orthographical processing, decoding, reading fluency, and comprehension skills. Academic achievement tests endeavor to evaluate core neuropsychological and theoretical perspectives that identify students at risk. However, reading tests have historically not focused on why a student may struggle with reading interventions. A neuropsychological approach to reading posits that multiple neural pathways assist the reading process. These processes include orthographic mapping, phonemic awareness, fluency, decoding, and comprehension. The aim of the test is to help the evaluator learn why a student is struggling with reading, as well as to inform intervention. This review explores the Feifer Assessment of Reading (FAR), and its contribution to the neuropsychological evaluation of reading.

Children with neurofibromatosis type 1 (NF1) often demonstrate difficulties with attention and executive functioning that can be evident starting at a young age. There has been little research about which measures of attention are most suitable for use with young children with NF1. This pilot study explored several computerized measures of attention, a digits forward task, and parent report measures of attention to compare their reliability, validity, and the degree to which they capture attention difficulty in this population. Participants with NF1 ages 4 to 6 years were seen for one (n=2) or two (n=18) time points. Statistical analyses for evaluating evidence for test-retest reliability, convergent and discriminant validity, practice effects, and identification of difficulties were conducted. Each measure demonstrated relative strengths and weaknesses, and there may not be a "one size fits all" measure for use with young children with NF1. However, the Behavior Rating Inventory of Executive Function Preschool/Second Edition, Conners Early Childhood Inattention/Hyperactivity Scale, and the Conners Kiddie Continuous Performance Test Second Edition generally had the highest reliability and most evidence of validity. More specific recommendations are provided for the appropriate measure to use in clinical and research batteries.