Ophthalmic features of Lamb-Shaffer syndrome: a case series.

Lamb-Shaffer syndrome (LSS) is a rare neurodevelopmental disorder, genetically diagnosed in fewer than 100 individuals worldwide. We present a case series of 6 pediatric patients with LSS and describe its ophthalmic manifestations. Strabismus was present in 5 patients, with exotropia being most common. All subjects had significant refractive errors; 5 had astigmatism of at least 2 D. All patients had optic nerve abnormalities, including pallor (4), hypoplasia (2), and anomalous appearance (1), with retinal nerve fiber layer thinning demonstrated in a single subject. Other ophthalmic disorders detected were ptosis (1), nasolacrimal duct obstruction (1), and nystagmus (2).

Ocular Findings and Visual Function in Children Examined during the Zika Health Brigade in the US Virgin Islands, March 2018.

Among children born with laboratory-confirmed Zika virus (ZIKV) infection, visual impairment (VI) can occur despite normal ocular structure. The objective of this report is to describe ocular findings and visual function among children examined during the Department of Health Zika Health Brigade (ZHB) in the United States Virgin Islands in March 2018. This analysis is based on a retrospective chart review of children eligible to participate in the ZHB (i.e., part of the US Zika Pregnancy and Infant Registry) and who were examined by ophthalmologists. Eighty-eight children attended the ZHB. This report includes 81 children [48 (59.3%) males] whose charts were located [average gestational age = 37.6 weeks (range: 27.6-41.3) and average adjusted age at examination = 9.1 months (range: 0.9-21.9)]. Of those examined, 5/81 (6.2%) had microcephaly at birth, 2/81 (2.5%) had a structural eye abnormality, and 19/72 (26.4%) had VI. Among children with normal ocular structure and neurologic examination, 13/51 (25.5%) had VI. Despite a low incidence of abnormal ocular structure and microcephaly, about a quarter of children examined had VI. Our findings emphasize that ophthalmological examinations should be performed in all children with suspicion for antenatal ZIKV infection, even children with normal ocular structure and neurologic examination.

Congenital Zika Syndrome: Surgical and Visual Outcomes After Surgery for Infantile Strabismus.

PURPOSE: To evaluate the surgical and functional outcomes in children with congenital Zika syndrome who underwent strabismus surgery. METHODS: This prospective case series included children with congenital Zika syndrome who presented with horizontal infantile strabismus and underwent strabismus surgery. Ocular motility and visual fields were assessed preoperatively and postoperatively. Visual fields were considered normal if they exceeded 70 degrees in the temporal meridian. Postoperatively, parents and caregivers answered a questionnaire that assessed their child's behavioral improvements. A final ocular alignment within ±10 prism diopters (PD) and expansion of the visual fields were considered satisfactory motor surgical results at 6 months postoperatively. RESULTS: Five children (3 girls [60%]) with congenital Zika syndrome (age: 36.4 ± 0.9 months) were included in this study. All children (100%) presented with moderate to severe visual impairment and 4 (80%) presented with funduscopic abnormalities. Preoperatively, 4 children (80%) had infantile esotropia (mean preoperative angle of deviation: 41.3 ± 6.3 PD) and 1 (20%) had infantile exotropia measuring 65 PD. The postoperative outcomes demonstrated ocular alignment in 4 children (80%) at the 6-month follow-up visit. Expansion of the temporal visual field was observed in 7 eyes (70%) of 4 children (80%). Four caregivers (80%) reported behavioral improvement in daily activities, and all caregivers (100%) reported improved peripheral target detection and socialization skills. CONCLUSIONS: Strabismus surgery can be an effective procedure for treating horizontal strabismus in children with congenital Zika syndrome because it can improve ocular alignment, expand the visual field, and improve the child's social, functional, and behavioral skills. [J Pediatr Ophthalmol Strabismus. 2020;57(3):169-175.].

Cerebral/Cortical Visual Impairment: A Need to Reassess Current Definitions of Visual Impairment and Blindness.

Cerebral/cortical visual impairment (CVI) is characterized by higher order visual dysfunction caused by injury to the retrogeniculate visual pathways and brain structures which subserve visual processing. CVI has become the leading cause of significant vision loss in children in developed countries, but continues to be an under-recognized cause of visual disability with respect to services aimed at maximizing visual development. Current criteria which are used to define visual disability rely on measures of visual acuity and visual field. Many children who require specialized vision services do not qualify, because these standard definitions of vision impairment do not account for CVI. In order to appropriately identify patients with CVI and offer the resources which may positively impact functional use of vision, the definition of visual impairment and blindness needs to be modified. This commentary calls for a change in the definition of visual impairment and blindness to acknowledge those persons with brain-based vision impairment.

Functional and cognitive vision assessment in children with autism spectrum disorder.

PURPOSE: To assess functional vision in children with autism spectrum disorder (ASD) with a cognitive visual function battery in addition to standard ophthalmic examinations. METHODS: Subjects were recruited from a school for children with ASD. In addition to a comprehensive ophthalmic examination, all children underwent cognitive vision assessment at a tertiary ophthalmological care center in India. RESULTS: A total of 30 children were included. The distribution of the number of children with mild to moderate versus severe ASD was nearly equal based on CARS autism scores. The majority of subjects had normal color vision (16/18), contrast (24), shape discrimination (26), and perception of directionality (28). Most were not able to identify optical illusions or differentiate tests of emotions. Ocular pursuits, saccades, and recognition of size differences were often abnormal. Poor visual closure was noted in (11) subjects. The duration of fixation to Heidi face target was inversely proportional to the severity of ASD. The study further established that cognitive visual impairment was present in children with ASD irrespective of their severity of ASD. CONCLUSIONS: All subjects had some form of cognitive visual impairment independent of ASD severity.

Refractive error and ocular findings among infants and young children with severe problem behavior and developmental disabilities.

The prevalence of refractive error and ocular disorders among infants and young children with severe behavioral problems and developmental disorders is not well defined, particularly in developing countries. We performed a retrospective review of ophthalmic examinations performed during a National Institutes of Health-funded cohort study of very young children in Peru with behavioral problems and at risk for developmental disorders. 222 children between the ages of 0 and 4 years (mean 2.2 ± 0.9 years) were examined and 100 (45.0%) had an abnormal ocular exam. Overall, the prevalence of refractive error was 33.3%, nystagmus was 12.2%, and strabismus was 10.9%. Among children with Down syndrome, refractive error ranged from 46.2% at age 2 to 85.7% at age 4. Refractive error and ocular disorders are highly prevalent even at a young age in children with behavioral problems and developmental disorders. Much of the visual impairment in this population is treatable; early identification and intervention can have a lifelong positive impact on neurodevelopment.

Visual impairment evaluation in 119 children with congenital Zika syndrome.

PURPOSE: To assess visual impairment in a large sample of infants with congenital Zika syndrome (CZS) and to compare with a control group using the same assessment protocol. METHODS: The study group was composed of infants with confirmed diagnosis of CZS. Controls were healthy infants matched for age, sex, and socioeconomic status. All infants underwent comprehensive ophthalmologic evaluation including visual acuity, visual function assessment, and visual developmental milestones. RESULTS: The CZS group included 119 infants; the control group, 85 infants. At examination, the mean age of the CZS group was 8.5 ± 1.2 months (range, 6-13 months); of the controls, 8.4 ± 1.8 months (range, 5-12 months; P = 0.598). Binocular Teller Acuity Card (TAC) testing was abnormal in 107 CZS infants and in 4 controls (89.9% versus 5% [P < 0.001]). In the study group, abnormal monocular TAC results were more frequent in eyes with funduscopic alterations (P = 0.008); however, 104 of 123 structurally normal eyes (84.6%) also presented abnormal TAC results. Binocular contrast sensitivity was reduced in 87 of 107 CZS infants and in 8 of 80 controls (81.3% versus 10% [P < 0.001]). The visual development milestones were less achieved by infants with CZS compared to controls (P < 0.001). CONCLUSIONS: Infants with CZS present with severe visual impairment. A protocol for assessment of the ocular findings, visual acuity, and visual developmental milestones tested against age-matched controls is suggested.

Response to correction of refractive errors and hypoaccommodation in children with congenital Zika syndrome.

PURPOSE: To describe the immediate response to correction of refractive errors and hypoaccommodation in children with congenital Zika syndrome (CZS). METHODS: Children born between May and December 2015 with a confirmed diagnosis of CZS and enrolled in a multidisciplinary early intervention program were included in this study. All children received a comprehensive ophthalmic examination, including dynamic retinoscopy and cycloplegic refraction. Children were prescribed their full correction if they met the criteria for refractive error, and additional plus 3.00 overcorrection for strabismus, accommodative dysfunction, and/or low vision. Monocular and binocular visual responses to Lea Grating Test at 30 cm, with and without eyeglasses, were measured on day 1 of glasses wear. RESULTS: A total of 60 children were evaluated (mean age at evaluation, 11.5 ± 1.1 months; range, 9.0-16.0 months). Lea Grating Test responses were abnormal in all children prior to spectacle correction. Hypoaccommodation was present in 17 of 21 children (81%). Overcorrection was prescribed for all children. Visual responses were subnormal even with glasses use; however, immediate improvement in binocular vision was found in 37 children (62%) and in 74 of 119 eyes (62.2%). For the monocular visual improvement, 27 of 115 eyes (23.5%) had structural abnormalities, and 44 of 115 eyes (38.3%) were structurally normal. There was a statistical difference between the cycloplegic refraction of the children in August and in November, including emmetropia (P = 0.001), hyperopia (P = 0.000), myopia (P = 0.007), and astigmatism (P = 0.004). CONCLUSIONS: Eyeglasses can improve visual acuity in children with CZS. Significant changes in their refractive status over time requires periodic updates.

Visual impairment in children with congenital Zika syndrome.

PURPOSE: To describe the visual impairment associated with ocular and neurological abnormalities in a cohort of children with congenital Zika syndrome (CZS). METHODS: This cross-sectional study included infants with microcephaly born in Pernambuco, Brazil, from May to December 2015. Immunoglobulin M antibody capture enzyme-linked immunosorbent assay for the Zika virus on the cerebrospinal fluid samples was positive for all infants. Clinical evaluation consisted of comprehensive ophthalmologic examination including visual acuity, visual function assessment, visual developmental milestone, neurologic examination, and neuroimaging. RESULTS: A total of 32 infants (18 males [56%]) were included. Mean age at examination was 5.7 ± 0.9 months (range, 4-7 months). Visual function and visual developmental milestone could not be tested in 1 child (3%). Visual impairment was detected in 32 infants (100%). Retinal and/or optic nerve findings were observed in 14 patients (44%). There was no statistical difference between the patients with ocular findings and those without (P = 0.180). All patients (100%) demonstrated neurological and neuroimaging abnormalities; 3 (9%) presented with late-onset of microcephaly. CONCLUSIONS: Children with CZS demonstrated visual impairment regardless of retina and/or optic nerve abnormalities. This finding suggests that cortical/cerebral visual impairment may be the most common cause of blindness identified in children with CZS.

Efficacy of a vision-screening tool for birth to 3 years early intervention programs.

PURPOSE: To validate a screening tool used to detect unsuspected visual pathway pathology in preschool children under 3 years of age with developmental disabilities enrolled in an early intervention program using guidelines from the Kansas Department of Health and Environment (KDHE). METHODS: The records of 300 consecutive children screened at a birth to 3 early intervention program from 2011 to 2014 were reviewed retrospectively. Inclusion criteria were documented KDHE vision screening examinations performed by trained early interventionist and full ophthalmic evaluations by a general ophthalmologist. The evaluation was only considered a pass if it was recorded on the chart and the child did not have any known risk factors. The visual pathway pathology status was determined after comprehensive ophthalmic examination, with the ophthalmologist masked to the vision screening results. RESULTS: A total of 216 children met inclusion criteria, of whom 137 were referred. The sensitivity was 95.3% (95% CI, 90.8-99.8); specificity, 57.25% (95% CI, 48.3-65.7); positive predictive value, 59.1% (95% CI, 50.4-67.3); negative predictive value, 94.9% (95% CI, 86.8-98.4); and negative likelihood ratio, 0.082 (95% CI, 0.031-0.22). A Pearson χ2 test for fit yielded an approximate P value of <0.0001. CONCLUSIONS: In this study population, good sensitivity and negative predictive value were demonstrated by the inexpensive screening examination coupled with associated risk factors for the 0-3 population of children with developmental disabilities.

The feasibility, reliability, and validity of a program director's (supervisor's) evaluation form for medical school graduates.

PURPOSE: To determine the feasibility, reliability, and validity of the supervisor's evaluation form for first-year residents as an outcome measure for programmatic evaluation. METHOD: Prospective feedback has been sought from supervisors for the Uniformed Services University of the Health Sciences (USUHS) graduates during their internship year. Supervisors are sent yearly evaluation forms with up to three additional mailings. Using a six-point scale, supervisors rate residents on 18 items. The authors used evaluation data from 1993 to 2002. Feasibility was estimated by response rate. Internal consistency was assessed by calculating Cronbach's alpha and analyzing scores on a year-to-year and interrater basis. Validity was determined by exploratory factor analysis with oblique rotations, comparing ratings with end-of-medical school GPA and United States Medical Licensing Examination (USMLE) Step 1 and Step 2 scores (Pearson correlations), and by analyzing the range of scores to include the percentage of scores below acceptable level. RESULTS: A total of 1,247 evaluations were collected for the 1,559 USUHS graduates (80%). Cronbach's alpha was .96 with no significant difference in scores by supervisor specialty or year. Factor analysis found that the evaluation form collapsed into two domains accounting for 68% of the variance: professionalism and expertise. End-of-medical school GPA and USMLE Step 1 and 2 scores correlated with expertise but not with professionalism. Mean scores across items were 3.5-4.31 with a median of 4.0 for all items (SD .80-1.21). Four percent of graduates received less-than-satisfactory ratings. CONCLUSIONS: This evaluation form has high feasibility and internal consistency. Factory analysis revealed two complimentary domains supporting its validity. Correlation with end-of-medical school measurements and analysis of range of scores supports the form's validity.

Legal issues in pain management: striking the balance.

The momentum over the past several years resulting in positive change to state pain policy is encouraging, especially as the medical community meets greater expectations from patients for appropriate pain management. As the trend for increased medical use of opioid medications continue it is important that medical professionals continue to work with government officials to ensure efforts to curb drug abuse do not impede patient access to pain management. Essential to maintaining that balance is an expansion of scholarly work supporting the medical use of opioids and promotion of research through educational activities. In 2004, the Mayday Project at ASLME will host a national conference, with an emphasis on pain management in the emergency department. The previous noted success of Mayday Project activities should give all of us hope that through scholarly activity further guidance will be provided in finding that critical balance between effective pain management and drug diversion.

The prognostic value of additional malignant lesions detected by magnetic resonance imaging versus mammography.

BACKGROUND: Nodal positivity is correlated with a poorer prognosis in breast cancer. A study was composed to compare nodal positivity in patients with single versus multiple lesions found on magnetic resonance imaging (MRI) and mammogram (MMG). METHODS: A retrospective study of breast cancer patients undergoing MRI and MMG was performed. Nodal positivity was compared in patients with additional invasive lesions found on MRI versus single invasive lesions found on MRI and MMG. RESULTS: A total of 425 patients were included. The overall nodal positivity was 23.8%. Patients with single versus multiple malignant lesions had nodal positivity of 20.9% vs 31.1% (P = .04). MRI detected multiple lesions in 120 patients, 80 of which were not detected by MMG (18.8%). Comparing single lesions with additional malignant lesions detected by MRI only, nodal positivity increased from 20.9% to 51.6% (P = .0002). CONCLUSIONS: Patients with additional invasive lesions on MRI had significantly higher nodal positivity than single invasive lesions. Hence, addition of MRI in early-stage breast cancer may have prognostic value because of detection of potential node-positive patients.

Unusual presentations in obstetrics and gynecology.

The key to evaluating any patient in the emergency department is to remember to keep an open differential when taking the history and conducting the physical examination. Many of the unusual conditions and complications of gynecologic diseases or procedures discussed in this article can be diagnosed with a careful and complete gynecologic history and examination.

Risk factors for self-injury, aggression, and stereotyped behavior among young children at risk for intellectual and developmental disabilities.

Before the 1990s, research on the early identification and prevention of severe behavior disorders (SBDs), such as aggression, self-injury, and stereotyped behavior, among young children with intellectual and developmental disabilities (IDD), was mostly done with children 3 years or older. More recent work suggests that signs of SBDs may occur as early as 6 months in some infants. The present study combined a cross-sectional and longitudinal approach to examine SBDs in 180 young children aged 4-48 months recruited through mass screening, then receiving an interdisciplinary evaluation and six-month follow-ups for one year. Twelve potential risk factors related to SBDs were examined. Eight of these risk factors, including age, gender, diagnosis, intellectual and communication levels, visual impairment, parent education, family income, were differentially related to scores for Aggression, SIB, and Stereotyped Behavior subscales on the Behavior Problems Inventory (BPI-01) at initial interdisciplinary evaluation. BPI-01 scores decreased over the year for 57% of the children and increased for 43%. The amount of decrease on each BPI-01 subscale varied with age, gender, and diagnosis.

The plusoptiX S08 photoscreener as a vision screening tool for children with autism.

PURPOSE: Children with autism and related disorders reportedly have an increased prevalence (40%) of ocular disorders, and comprehensive eye examinations by a pediatric ophthalmologist are recommended. Examinations can be very time consuming, expensive, and stressful for the child. A photoscreener such as the plusoptiX S08 may be a cost-effective, time-saving, and less invasive method for testing patients with autism. The purpose of this study was to determine the efficacy of photoscreening with the plusoptiX S08 in detecting amblyopia risk factors in children with autism. METHODS: Photoscreening and complete ophthalmologic examinations were performed on 43 children with autism. Prevalence, sensitivity, specificity, positive predictive value, and negative predictive value were calculated using ophthalmologic examination as the gold standard. RESULTS: The gold standard examination used American Association for Pediatric Ophthalmology and Strabismus Vision Screening Committee guidelines for the definition of amblyopia risk factors. The plusoptiX S08 referred 29 (67%) of 43 children. On examination, 16 patients (37%) had amblyopia risk factors. The plusoptiX S08 had a sensitivity of 94% (95% CI, 0.68-0.99). The specificity was 48% (95% CI, 0.29-0.68), the positive predictive value was 52% (95% CI, 0.33-0.70), and the negative predictive value was 93% (95% CI, 0.64-0.99). CONCLUSIONS: The plusoptiX S08 is sensitive but less specific at detecting treatable ocular conditions in children with autism. The majority of children with autism and amblyopia risk factors were detected on screening; however, about half of all referrals had no amblyopia risk factors. The plusoptiX S08 reduced the need for a full examination in one-third of the children screened.

Unmet visual needs of children with Down syndrome in an African population: implications for visual and cognitive development.

PURPOSE: To determine the magnitude and types of ocular disorders in children with Down syndrome in an African population and to assess to what extent these visual needs have been met.
 METHODS: This is a cross-sectional study of children with Down syndrome attending a school for the mentally challenged in Southeastern Nigeria. Visual acuity, ocular examination, and cycloplegic refraction were done on all cooperative participants. Information was sought from parents/caregivers to ascertain previous ocular treatment/spectacle usage. 
 RESULTS: A total of 30 children with Down syndrome aged 5-15 years were examined. Uncorrected refractive errors were detected in 76.4% of them. Other lesions included mongoloid slant (53.5%), strabismus (33.3%), ptosis (33.3%), nystagmus (13.3%), and cataract (3.3%). None of the children with refractive errors had ever worn spectacles.
 CONCLUSIONS: Refractive error is a common finding in this population. There is a high unmet visual need in these children. This may have implications for visual and cognitive development. Early screening for ocular disorders in Down syndrome is recommended to detect and treat them.

Nodal positivity in breast cancer correlated with the number of lesions detected by magnetic resonance imaging versus mammogram.

BACKGROUND: Magnetic resonance imaging (MRI) in breast cancer can detect more than 15% additional lesions than mammography. We investigated lymph node metastases rates in patients with multifocal or multicentric disease detected by MRI compared with patients with a single lesion detected by mammography and magnetic resonance imaging. METHODS: A retrospective analysis of breast cancer patients undergoing MRI and mammography was performed. The objective was to compare lymph node metastases rates in patients with additional lesions detected by MRI versus a single lesion detected by mammography or MRI. RESULTS: Of 413 patients, 318 were included for the study. The overall nodal metastases rate was 24.8%. MRI detected multiple lesions in 83 (26.1%) patients; 67 (21.1%) patient MRI findings were not detected by mammography. The lymph node metastases rate was 37.3% when ≥ 2 lesions were detected compared with 20.2% when a single malignant lesion was detected (P = .01). The evaluation of the 67 patients with additional lesions detected by MRI revealed 32 patients with invasive lesions, 29 with benign lesions, and 6 with in situ disease. Comparing patients with single malignant lesions with patients with additional malignant lesions detected by MRI, the lymph node metastases rate increased from 20.2% to 50% (P = .002). CONCLUSIONS: Our study shows a significant increase in the lymph node metastases rate in patients with additional malignant lesions detected by MRI. This finding suggests that MRI-detected malignant lesions are biologically significant and may predict more aggressive disease.