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.
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 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.
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.
Visual Diagnosis and Care of the Patient with Special Needs provides a thorough review of the eye and vision care needs of patients with special needs. This book gives you a better understanding of ...the most frequently encountered developmental and acquired disabilities seen in the eye care practitioners office. These disabilities include patients with autism, brain injury, Fragile X syndrome and Down syndrome, as well as those with psychiatric illness, dual diagnosis, and more. The text discusses, in great detail, the visual issues inherent in these populations and their possible treatment. A group of authors with approximately 500 years of experience in the field of eye care and special populations have been brought together to develop this comprehensive reference. It may appear that this book is written primarily for eye care practitioners such as optometrists and ophthalmologists, while vision is the overriding topic, this book serves as an excellent resource for a multitude of professions including those engaged in occupational therapy, physical therapy, speech and language therapy, physiatry, social work, pediatric medicine, and special education.
To characterize optic nerve head (ONH) parameters including symmetry between the eyes in healthy African American children using the Heidelberg retinal tomograph II, and to determine if there are ...associations between these parameters and age, refractive error, or gender.
The ONHs of 146 African American children aged 6 to 17 years without ocular disease were imaged with the Heidelberg retinal tomograph II. Mean values for 11 ONH parameters were determined as was their relationship to age, gender, and refractive error. Interocular symmetry of the parameters was determined.
The mean (+/-standard deviation) disc area, rim area, and cup area were 2.18 +/- 0.57 mm2, 1.63 +/- 0.40 mm2, and 0.52 +/- 0.37 mm2, respectively. The mean linear cup-to-disc (C/D) ratio was 0.45 +/- 0.15, and mean cup depth was 0.22 +/- 0.10 mm. The mean retinal nerve fiber layer thickness was 0.26 +/- 0.07 mm. The ONH parameters were not related to age or refractive error. With the exception of the C/D area ratio and linear C/D ratio, which were greater in boys than in girls, ONH parameters were not related to gender. Most parameters were strongly correlated between the right and left eyes. The average interocular differences in disc area, cup area, rim area, linear C/D ratio, and mean retinal nerve fiber layer thickness were 0.09 +/- 0.31 mm2, 0.04 +/- 0.22 mm2, 0.06 +/- 0.40 mm2, 0.02 +/- 0.11, and 0.00 +/- 0.06 mm2, respectively.
ONH parameters were not related to age and refractive error, and only C/D area ratio and linear C/D ratio were greater in boys than girls in a clinical sample of African American children. These measures of normative ONH parameters and range of interocular differences may be helpful in clinical pediatric eye care to facilitate identification of African American children with abnormal optic discs.
Individuals with mental illness (MI) and intellectual disability (ID) are characterized as dually diagnosed (DD). These individuals are known to have numerous systemic and oculo-visual anomalies. ...This comorbidity of conditions should elicit frequent oculo-visual complaints from these patients during the initial review of systems. A search of MedLine yielded one article that was published on oculo-visual symptomology/pain associated with MI and DD. This report appears to be the first to assess the frequency of these symptoms within these 2 unique populations.
A retrospective analysis of all medical records for patients (N = 202) evaluated at the Neumann Association (NA) Developmental Disabilities Service of the Illinois Eye Institute was completed. Only the records of patients who had either MI or DD and who were prescribed antipsychotics, antidepressants, anticonvulsants, or tranquilizers/anxiolytics were used for our analysis. Upon record review, 89.9% of MI and 59.4% of DD individuals met the above subject criteria. We determined the frequency of ocular anomalies, drugs taken, and complaints reported by patients during the initial review of systems.
The most common documented side effects for the targeted drug types were decreased or blurred vision (near or far), visual hallucinations, decreased accommodation, and eyelid/conjunctiva irregularities. In our sample, the most frequent ocular anomalies encountered were astigmatism (50% MI and 37.84% DD), myopia (60.71% MI and 62.16% DD), presbyopia (35.71% MI and 37.84%DD), and blepharitis (32.14% MI and 32.43%DD). Additionally, the most frequently encountered complaints were no complaints (45.16% MI and 46.84% DD), blurry vision (17.74% MI and 17.72% DD), and need new glasses (11.29% MI and 17.72% DD).
It has been established that MI and DD populations exhibit a higher incidence of oculo-visual anomalies (uncorrected refractive error, binocular vision anomalies, ocular pathology) than noted in the general population. They are also typically taking 1 or more neuropsychotropic medications that are frequently associated with undesirable visual side effects. Individuals with MI and DD should report numerous complaints associated with the medications they take and the oculo-visual anomalies they exhibit during the initial case history and the review of systems. The data from this study suggest that this is not the case and that only about 50% of those who should have complaints actually report them.
A Phase II, 4-week randomized, double-blind, placebo-controlled clinical trial was conducted to evaluate the safety and efficacy of the Ampakine compound CX516 as a potential treatment for the ...underlying disorder in fragile X syndrome (FXS). After baseline screening, subjects with FXS (n = 49) underwent a 1-week placebo lead-in and then were randomized to study drug or placebo for a 4-week period. Cognitive and behavioral outcome measures were administered prior to treatment, at the end of treatment, and 2 weeks posttreatment. There were minimal side effects, no significant changes in safety parameters, and no serious adverse events. There was a 12.5% frequency of allergic rash in the CX516 group and 1 subject developed a substantial rash. There was also no significant improvement in memory, the primary outcome measure, or in secondary measures of language, attention/executive function, behavior, and overall functioning in CX516-treated subjects compared to placebo. This study did demonstrate that many outcome measures were reproducible in this test-retest setting for the FXS population, yet some were too difficult or variable. Adult subjects with FXS were able to complete an intensive clinical trial, and some valid outcome measures were identified for future FXS trial design. Problems with potency of CX516 in other studies have suggested dosing may have been inadequate for therapeutic effect and thus it remains unclear whether modulation of AMPA-mediated neurotransmission is a viable therapeutic strategy for the treatment of FXS.
The fragile X gene contains an unstable trinucleotide (CGG) repeat that expands as it is passed from female carriers to the affected offspring. Obligate female carriers may have a premutation or full ...mutation genotype.
In this study, fragile X premutation and full mutation female carriers were compared on three tasks of visual processing and cognitive skills.
In each case, there were significant differences between premutation and full mutation carriers on a number of the subtests or the full test scores. Specifically, full mutation female carriers performed more poorly in visual-motor processing and analysis-synthesis on the Woodcock-Johnson Psycho-Educational Battery-Revised, The Developmental Test of Visual Motor Integration, and on five of the seven subtests of the Test of Visual-Perceptual Skills. Regression analyses revealed significant negative correlations between mutation size and cognitive ability.
These findings have implications in educational planning decisions for full mutation carriers who may present with specific cognitive deficits.
Alport syndrome: a review McCarthy, Patricia A; Maino, Dominick M
Clinical Eye and Vision Care
12, Issue:
3-4
Book Review, Journal Article
Peer reviewed
Alport syndrome, a hereditary nephritis accompanied by high-tone sensorineural deafness and distinctive ocular signs was first noted in the literature during the early 1900s. This disease is caused ...by a genetic defect in Type IV collagen which makes up basement membranes in many body systems. The patient will usually have bilateral anterior lenticonus causing varied refractive errors. You may also note yellow-white to silver flecks within the macular and midperipheral regions of the retina. The treatment of the visual problems is an important but secondary concern due to the seriousness of the systemic disease. Dual sensory loss, however, creates an urgent need for appropriate vision care. Due to the high risk for developmental delay and decreased social integration, early intervention should be considered in the treatment plan. Coping strategies for the patient (and the family) need to be addressed because of the chronicity of this syndrome. The primary care optometrist will be challenged by the individual with Alport syndrome since a balance between oculo-visual, developmental/psycho-educational and systemic care is required. A multi-disciplinary approach by the healthcare management team will enhance the quality of life and positive outcomes for these patients.
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