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Biomedical subjects

D M Maino

Publications and source records attributed to D M Maino.

14 recordsLinked to original sources
PubMed2000

Cognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriers.

BACKGROUND: 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. METHODS: In this study, fragile X premutation and full mutation female carriers were compared on three tasks of visual processing and cognitive skills. RESULTS: 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. CONCLUSIONS: These findings have implications in educational planning decisions for full mutation carriers who may present with specific cognitive deficits.

Adult↗
PubMed1996

Ocular anomalies of individuals with mental illness and dual diagnosis.

BACKGROUND: Oculo-visual findings commonly associated with persons diagnosed as having mental illness and/or dual diagnosis (i.e. mental illness with mental retardation) have not been fully investigated. This study determines the most common eye and vision anomalies associated with these disorders and discusses the similarities and differences between these two unique populations. METHODS: Data were obtained by the random selection of 88 patient records from the Illinois Eye Institute/Easter Seal Society of Metropolitan Chicago Eye Care and Treatment Program (Illinois College of Optometry). Results from the most recent oculo-visual evaluation were reviewed. Commonly accepted methods of assessing the eyes and vision of patients with disabilities were used. RESULTS: Individuals with mental illness frequently exhibited uncorrected refractive error, strabismus, blepharitis, pigmentary retinopathy, and cataracts. Those with mental retardation and mental illness (dual diagnosis) demonstrated similar findings with the exception of cataracts. A statistically significant amount of compound astigmatism was seen in those with mental illness. CONCLUSIONS: Many of the ocular anomalies found among the mentally ill and those with dual diagnosis were common to both groups but occurred with different frequencies. Appropriate spectacle correction and individually designed therapy programs should play an important role in the developmental and intellectual habilitation of these patients.

Adolescent↗
PubMed1995

The fragile X female: a case report of the visual, visual perceptual, and ocular health findings.

BACKGROUND: Fragile X syndrome is one of the most frequently encountered etiologies of X-linked mental retardation. Even though it is second only to Down syndrome in prevalence among children with chromosomal abnormalities, few studies have investigated the visual, visual perceptual and ocular health anomalies associated with this syndrome. No studies have been published that report on these areas for females with fragile X. This case report describes a 10-year-old white female with fragile X syndrome who exhibited numerous oculo-visual and perceptual abnormalities. METHODS: A 10-year, 7-month-old white female diagnosed as having fragile X syndrome was examined in the Illinois Eye Institute/Illinois College of Optometry Department of Pediatrics and Binocular Vision using diagnostic techniques appropriate for special populations. These techniques included a battery of tests that determine binocular vision function, ocular health status and visual perceptual abilities. RESULTS: Oculo-visual abnormalities noted include a non-active chorioretinal lesion, refractive amblyopia, anisometropia, accommodative insufficiency, and convergence excess, as well as mild to severe dysfunctions in visual motor integration, ocular motilities, laterality/directionality, visual figure ground, visual closure, visual form constancy, visual memory and visual sequential memory. CONCLUSION: Although thousands of articles, monographs, and textbooks have been written describing the numerous anomalies associated with the fragile X syndrome, little has been published in the area of oculo-visual and visual perceptual dysfunctions associated with this frequently encountered genetic abnormality. This paper is the first to demonstrate the presence of ocular health anomalies and learning-related vision problems that could adversely affect the individual's academic performance and rehabilitative program. Additional research is needed to ascertain the prevalence of these disorders within the fragile X community.

Child↗
PubMed1994

Effect of resisting tonometry on intraocular pressure.

BACKGROUND: Children and patients with developmental delay frequently resist the procedure of tonometry. Intraocular pressure (IOP) readings, if obtained under stressful circumstances, may have questionable reliability because IOP is influenced by numerous factors characteristic of the uncooperative patient. These factors include possible increases in arterial blood pressure, intraocular vascular engorgement, and pressure on the globe. A study of the effect upon IOP of these factors occurring simultaneously has not been reported previously. METHODS: We measured IOP using the Tono-Pen on 40 cooperative adults under normal conditions and again under conditions simulating the resistant patient. RESULTS: Paired t-test revealed a statistically significant difference between IOP readings under the two conditions (p < 0.001), with IOP under "resistant" conditions showing more variability and averaging 6mmHg higher than under normal conditions. CONCLUSIONS: We conclude that IOP readings in resistant patients should be viewed with caution. The possibility of obtaining false high readings in these patients could lead to unnecessary glaucoma evaluations if based only on elevated IOP readings.

Adult↗
PubMed1994

Ocular manifestations of Sotos syndrome.

BACKGROUND: Sotos syndrome (cerebral gigantism) is a congenital syndrome characterized by large body size for patient age, advanced bone age, and unusual facial characteristics with varying levels of cognitive, developmental and perceptual deficits. While more than 150 cases have been reported, only a single case report has been published in the ophthalmic literature. This study briefly reviews the pertinent aspects of this syndrome and reports on the medical, physical, developmental and ocular manifestations of 32 subjects. METHODS: Our patient population was obtained from several schools and colleges of optometry and private offices and clinics of optometrists and ophthalmologists. The Sotos Syndrome Support Association assisted in obtaining patients for this study as well. All children had been previously diagnosed as having SS. Commonly accepted methods for evaluating young, non-verbal, and/or handicapped children were used. RESULTS: Our findings indicate that moderate to high refractive error (hyperopia), nystagmus, and strabismus (esotropia) are commonly associated conditions of this syndrome. CONCLUSIONS: Since many of our subjects exhibited these amblyogenic precursors, a routine optometric vision evaluation should be an essential part of the individual educational and habilitation plan for all children with Sotos syndrome.

Abnormalities, Multiple↗
PubMed1994

Prader-Willi syndrome.

BACKGROUND: First described in 1956, Prader-Willi syndrome is a neurogenetic condition characterized by infantile hypotonia, hypogonadism and obesity. Mental deficiency, behavioral abnormalities, and obvious dysmorphic features are frequently found as well. It is a relatively common condition, with an incidence estimated to be between 1 in 10,000 to 25,000 live births. Few studies have been published that investigated the ocular defects associated with this syndrome. METHODS: This case report discusses the systemic and oculo-visual abnormalities of a 34-year-old white male enrolled in the Easter Seal Society of Metropolitan Chicago/Illinois College of Optometry Eye Care and Treatment Program. Examination techniques commonly used for patients with cognitive/developmental dysfunctions were utilized. RESULTS: Our findings include ocular hypopigmentation with reduced visual acuity, a myopic refractive error, exotropia, corneal abnormalities, glaucoma, and other ocular and systemic health abnormalities. CONCLUSIONS: Reported ocular findings for patients with Prader-Willi syndrome include iris hypopigmentation with depressed visual acuity, moderate to high refractive error, and strabismus. Individual patients with this syndrome have also been reported with cataracts, congenital ocular fibrosis syndrome, diabetic retinopathy, and congenital ectropion uveal. The numerous ocular, systemic, and functional abnormalities of patients with Prader-Willi syndrome make it mandatory that all routinely receive primary optometric vision care.

Adult↗
PubMed1993

Angelman syndrome.

BACKGROUND: Angelman (happy puppet) syndrome is a neuro-developmental condition characterized by an ataxic gait with puppet-like limb movements, paroxysmal bouts of laughter and severe mental retardation. Although considered a rare condition, over 140 cases have been documented since its designation in 1965. To date, only one study has been published investigating the ocular defects of Angelman syndrome. METHODS: In this paper we report the cognitive, motor, systemic, and oculo-visual findings of a 3 year old child with Angelman syndrome. RESULTS: The oculo-visual findings include choroidal hypopigmentation, iris hypopigmentation, strabismus, and hyperopia. CONCLUSIONS: As in many neuro-developmental conditions, early diagnosis is crucial. The ocular findings of fundal/iris hypopigmentation and strabismus with minimal refractive error in conjunction with the cognitive, behavioral, and motoric characteristics the patient exhibits may be the first clues for the diagnosis of Angelman Syndrome in a developmentally delayed child. The initiation of individualized optometric diagnosis and treatment is important for all children with developmental disabilities. The eye care professional should work in concert with speech, occupational, and physical therapists, neurologists, and special educators in the multi-disciplinary treatment and habilitation of all children with disabilities including those with Angelman Syndrome.

Angelman Syndrome↗
PubMed1991

Optometric findings in the fragile X syndrome.

Fragile X syndrome (fra X) is one of the most significant discoveries in the area of mental retardation in the past 2 decades. Although hundreds of articles and two text-books have been written on the subject, only two studies have been published in the ophthalmic literature. This paper provides a brief review of the syndrome and reports on the ocular findings of 30 subjects with this genetic abnormality. We found that 30% of the subjects exhibited strabismus. Of those with strabismus, 70% were esotropes. Fifty-nine percent of the eyes evaluated (N = 58) showed hyperopia of +1.00 D or greater, 17% myopia of -1.00 D or greater, and 22% had at least 1.00 D of astigmatism. Major ocular health abnormalities were not identified in any of our subjects. The optometrist, as the primary eye care provider, should diagnose and treat these oculo-visual dysfunctions.

Adolescent↗
PubMed1990

Mental retardation syndromes with associated ocular defects.

The mentally handicapped represent up to six million individuals who require the eye and vision care the optometrist can provide. Few of these individuals, however, ever receive this care. This paper reviews the pertinent aspects of each of these syndromes and briefly describes the associated oculo-visual anomalies that are frequently seen. The optometric clinician should actively participate in the primary health care needs of children and adults diagnosed as having mental retardation.

Cerebral Palsy↗
PubMed1990

Ocular anomalies in fragile X syndrome.

Fragile X (fra[X]) syndrome is a newly discovered, but relatively common, genetic disorder with an estimated frequency of 1:1000. Several ocular dysfunctions may be associated with this syndrome, but there are few articles that fully report on these. A review of this genetic disorder is provided, as well as a discussion of a case review of a family with three siblings with fragile X syndrome. Since this disorder is the most common familial cause of mental retardation, is second only to Down's syndrome as a genetic cause for mental retardation, and may play a significant role in learning disabilities, the eye care practitioner should be aware of its importance.

Adult↗
PubMed1989

Poland-Möbius syndrome: a case report.

The Poland-Möbius syndrome is a combination of two rare congenital syndromes with an estimated prevalence of 1:500,000. It is characterized by a nonprogressive bilateral facial paralysis, the inability of the eyes to abduct beyond the midline, orofacial anomalies, limb deficiencies, and an absence or hypoplasia of the pectoral muscles.

Child, Preschool↗
PubMed1987

The mentally handicapped patient: a perspective.

The patient exhibiting decreased cognitive abilities (mental retardation) requires full scope optometric care, but may often receive little or no vision care whatsoever. This paper will provide the optometrist with a review of the history of exceptionality, Public Law 94-142, the educational classification of mental retardation, and various examination techniques appropriate for this population. The optometrist should contribute his/her knowledge and skill as a member of the patient's rehabilitation team and provide those services required by this unique population.

Humans↗
PubMed1985

Microcomputer mediated visual developmental and perceptual therapy.

There are currently few computer programs written by optometrists for optometrists to be utilized as methods of treatment for those patients with deficits in the areas of developmental vision and perception. This paper reviews educational and commercially available programs that with certain modifications may meet the therapeutic needs of our patients.

Child↗