Executive functions in young males with fragile X syndrome in comparison to mental age-matched controls: Baseline findings from a longitudinal study.

The aim of this research is to analyze the relationship between executive functions and adaptive behavior in girls with Fragile X syndrome (FXS) in the school setting. This study is part of a larger investigation conducted at the Hospital Parc Tauli in Sabadell. The sample consists of a total of 40 girls (26 with FXS and 14 control) aged 7–16 years, who were administered different neuropsychological tests (WISC-V, NEPSY-II, WCST, TOL) and questionnaires answered by teachers (ABAS-II, BRIEF 2, ADHD Rating Scale). The results show that there is a greater interaction between some areas of executive function (cognitive flexibility, auditory attention, and visual abstraction capacity) and certain areas of adaptive behavior (conceptual, practical, social, and total domains) in the FXS group than in the control group. These results suggest that an alteration in the executive functions was affecting the daily functioning of the girls with FXS to a greater extent.

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Vocabulary comprehension in adults with fragile X syndrome (FXS)

Journal of Neurodevelopmental Disorders ◽

10.1186/s11689-019-9285-x ◽

2019 ◽

Vol 11 (1) ◽

Cited By ~ 2

Author(s):

Anne Hoffmann ◽

Sue Ellen Krause ◽

Joanne Wuu ◽

Sue Leurgans ◽

Stephen J. Guter ◽

...

Keyword(s):

Fragile X Syndrome ◽

Cognitive Skills ◽

Fragile X ◽

Language Skills ◽

Receptive Vocabulary ◽

Fourth Edition ◽

Mental Age ◽

Autism Symptomatology ◽

Global Language ◽

Verbal Cognition

Abstract Background Receptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been considered a strength relative to mental age. This has not been formally examined, however, and data are needed to compare receptive vocabulary with other language skills and with mental age in individuals with FXS. This is especially important as vocabulary measures are sometimes used as a proxy to estimate language ability. Methods This preliminary study examined receptive vocabulary, global language, and cognitive skills in 42 adults (33 males and 9 females) with FXS as a portion of the baseline evaluation prior to randomization in a clinical trial of ampakine CX516. The battery of standardized tests addressed receptive vocabulary with the Peabody Picture Vocabulary Test, Third Edition (PPVT-III), receptive and expressive language (termed henceforth as global language) via the Preschool Language Scale, Fourth Edition or the Clinical Evaluation of Language Fundamentals, Third Edition, and non-verbal cognition via the Stanford-Binet Intelligence Scales, Fourth Edition (SB-IV). Results Results showed (1) significantly higher receptive vocabulary than global language, (2) significantly better receptive vocabulary than non-verbal cognition, (3) equivalent non-verbal cognition and global language, and (4) severity of autism symptomatology was not correlated to receptive vocabulary or global language once non-verbal cognition was removed as factor. The scores from the PPVT-III did not represent the global language skills in our sample of adults with FXS. Conclusions Findings from this investigation strongly suggest that the PPVT-III should not be used as a screening tool for language levels or cognitive function in clinical studies since the scores from the PPVT-III were not representative of global language or non-verbal cognitive skills in adults with intellectual disabilities. This finding is critical in order to understand how to evaluate, as well as to treat, language in individuals with FXS. Development of efficient and appropriate tools to measure language, cognition, and behavior in individuals with FXS is essential.

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Early Intervention Practices and Communication Intervention Strategies for Young Males With Fragile X Syndrome

Language Speech and Hearing Services in Schools ◽

10.1044/0161-1461(2003/026) ◽

2003 ◽

Vol 34 (4) ◽

pp. 320-331 ◽

Cited By ~ 21

Author(s):

Penny L. Mirrett ◽

Joanne E. Roberts ◽

Johanna Price

Keyword(s):

Fragile X Syndrome ◽

Intervention Program ◽

Fragile X ◽

Role Playing ◽

Limited Attention ◽

Auditory Comprehension ◽

Regional Study ◽

Speech Language Pathologists ◽

Young Males ◽

Visually Based

Purpose: This study describes speech-language pathologists’ impressions of the communication difficulties of young males with fragile X syndrome (FXS) and the need for both syndrome-specific and individualized interventions. The findings of a regional study that identified speech-language pathologists’ impressions of the speech, language, and behavioral difficulties experienced by males with FXS and an array of interventions used by speech-language pathologists to improve communication skills for these children are reported. Methods: Fifty-one speech-language pathologists providing intervention for males with FXS ranging in age from 2 to 9 years (mean age=6;3 [years;months]) were interviewed. Results: The majority of the speech-language pathologists reported that boys with FXS exhibit a visually based, experiential or wholistic learning preference. They emphasized the necessity of making environmental accommodations for limited attention span, difficulties with topic and activity transitions, sensory deficits, and low threshold for anxiety. They reported that speech goals focused on slowing rate and increasing precision for verbal children and both low and high levels of assistive technology for nonverbal or minimally verbal children. Language goals focused on listening, auditory comprehension, and narrative/conversation skills. Pragmatic goals emphasized social dialogue, role playing, and topic maintenance. Clinical Implications: This study suggests that young males with FXS present the clinician with a constellation of behaviors and communication impairments that are both syndrome specific and symptom familiar. The specific communication strengths and deficits described by clinicians working with these children are common to many children with speech and language impairments compounded by cognitive deficits. Intervention programs for young boys with FXS should also attend closely to the specific behavioral (e.g., increased anxiety, attention deficits) and sensory "overload" problems they often exhibit before designing a tailored intervention program.

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A neuropsychological profile of attention deficits in young males with fragile X syndrome

Neuropsychologia ◽

10.1016/s0028-3932(00)00036-1 ◽

2000 ◽

Vol 38 (9) ◽

pp. 1261-1270 ◽

Cited By ~ 123

Author(s):

F. Munir ◽

K.M. Cornish ◽

J. Wilding

Keyword(s):

Fragile X Syndrome ◽

Fragile X ◽

Attention Deficits ◽

Young Males ◽

Neuropsychological Profile

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Auditory Brainstem Responses in Young Males With Fragile X Syndrome

Journal of Speech Language and Hearing Research ◽

10.1044/1092-4388(2005/034) ◽

2005 ◽

Vol 48 (2) ◽

pp. 494-500 ◽

Cited By ~ 10

Author(s):

Joanne Roberts ◽

Elizabeth A. Hennon ◽

Kathleen Anderson ◽

Jackson Roush ◽

Judith Gravel ◽

...

Keyword(s):

Fragile X Syndrome ◽

Fragile X ◽

Auditory Brainstem ◽

Auditory Brainstem Responses ◽

Chronological Age ◽

Typically Developing ◽

Cochlear Function ◽

Young Males ◽

Developmental Age ◽

Brainstem Response

Fragile X syndrome (FXS) is the most common inherited cause of mental retardation resulting in developmental delays in males. Atypical outer ear morphology is characteristic of FXS and may serve as a marker for abnormal auditory function. Despite this abnormality, studies of the hearing of young males with FXS are generally lacking. A few studies have suggested that a significant proportion of individuals with FXS demonstrate prolonged auditory brainstem response (ABR) latencies. The purpose of this study was to determine whether young males with FXS display atypical auditory brainstem function compared to typically developing males when conductive and sensorineural hearing loss are ruled out as possible contributors to atypical findings. Participants were 23 males with FXS, 21 typically developing males who were matched for developmental age, and 17 typically developing males who were matched for chronological age. A battery of tests to assess peripheral hearing, cochlear function, and auditory pathway integrity through the level of the brainstem was completed. Males with FXS were similar to typically developing males who were matched for developmental age level or chronological age level on all measures. They had normal hearing sensitivity and middle ear function and scored similar to the typically developing children on the measures of auditory brainstem pathway integrity. In summary, ABRs in young males with FXS were within normal limits.

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