This study examines the long-term cognitive and academic outcomes of 11 individuals with infantile onset Pompe disease (IOPD) (median age=11years, 1month, range=5years, 6months through 17years of age) treated with enzyme replacement therapy from an early age. All participants (7 males, 4 females) were administered individual intelligence tests (Wechsler or Leiter scales or both), a measure of their academic skill levels (Woodcock-Johnson Tests of Achievement), and a screening measure of visual-motor integration ability (Beery-Buktenica). Consistent with our earlier findings, median IQ scores for the entire group on the Wechsler (median=84) and Leiter (median=92) scales continue to fall at the lower end of the average range compared to same-aged peers. The median scores for the group on a measure of visual-motor integration (median=76), visual perception (median=74) and motor coordination (median=60) were below average. Two distinct subgroups emerged based on participants' average or below average performance on the majority of academic subtests. Those participants with below average academic skills (n=6) demonstrated average nonverbal cognitive abilities on the Leiter, but had weaknesses in speech and language skills and greater medical involvement. Their profiles were more consistent with a learning disability diagnosis than an intellectual disability. Two of these participants showed a significant decline (15 and 23 points, respectively) on repeated Wechsler scales, but one continued to earn average scores on the Leiter scales where the verbal and motor demands are minimal. Participants with average academic skills (n=5) demonstrated average cognitive abilities (verbal and nonverbal) on the Wechsler scales and less medical involvement. Their speech and language skills appeared to be more intact. However, both groups earned below average median scores on the Beery-Buktenica motor coordination task. This study highlights the importance of using appropriate tests to capture both verbal and nonverbal abilities, considering each individual's motor skills, speech and language abilities, hearing status and native language. This will allow for a more accurate assessment of whether there is a learning disability or an intellectual disability. Long-term outcomes may be related to the stability of an individual's expressive and/or receptive language abilities over time. Changes in the speech and language domain may account for the decline in IQ observed in some IOPD long-term survivors, reflecting a learning disability rather than a decline in overall cognition or an intellectual disability. These observations, in conjunction with neuroimaging, will further our understanding of the neurocognitive profile of long-term IOPD survivors.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985833PMC
http://dx.doi.org/10.1016/j.ymgme.2017.04.014DOI Listing

Publication Analysis

Top Keywords

speech language
16
median scores
12
learning disability
12
intellectual disability
12
average
10
cognitive academic
8
academic outcomes
8
long-term survivors
8
pompe disease
8
leiter scales
8

Similar Publications

According to some philosophers, a sentence's semantics can fail to constitute a complete propositional content, imposing mere constraints on such a content. Recently, Daniel Harris has begun developing a formal constraint semantics. He claims that the semantic values of sentences constrain what speakers can literally say with them-and what hearers can know about what was said.

View Article and Find Full Text PDF

Introduction: In the field of medical listening assessments,accurate transcription and effective cognitive load management are critical for enhancing healthcare delivery. Traditional speech recognition systems, while successful in general applications often struggle in medical contexts where the cognitive state of the listener plays a significant role. These conventional methods typically rely on audio-only inputs and lack the ability to account for the listener's cognitive load, leading to reduced accuracy and effectiveness in complex medical environments.

View Article and Find Full Text PDF

Ghadeer-speech-crowd-corpus: Speech dataset.

Data Brief

February 2025

Computer Science Department, College of Science, University of Baghdad, Iraq.

The availability of raw data is a considerable challenge across most branches of science. In the absence of data, neither experiments can be conducted nor development can be undertaken. Despite their importance, raw data are still lacking across many scientific fields.

View Article and Find Full Text PDF

The Benefits of Hearing Aids for Adults: A Systematic Umbrella Review.

Ear Hear

January 2025

Department of Health Sciences, Faculty of Medicine Health and Human Sciences, Macquarie University, North Ryde, New South Wales, Australia.

Objectives: This umbrella review aims to summarize the major benefits of hearing aid usage in adults by synthesizing findings from published review articles.

Design: A comprehensive search of databases, including MEDLINE, EMBASE, PsycINFO, and Google Scholar, was conducted. The search was limited to English-language review articles published between 1990 and 2023, focusing on hearing aid outcomes in at least 5 adults (aged ≥18 years).

View Article and Find Full Text PDF

Objectives: The objectives of this study were to compare the auditory perceptual voice quality in young and older adults who had no self-reported voice complaints and to investigate the relationship of voice quality with age and gender in older adults.

Study Design: This is a retrospective study.

Materials And Methods: This study included 114 participants.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!