Neurodevelopmental disorders in children aged 2-9 years: Population-based burden estimates across five regions in India.

BACKGROUND: Neurodevelopmental disorders (NDDs) compromise the development and attainment of full social and economic potential at individual, family, community, and country levels. Paucity of data on NDDs slows down policy and programmatic action in most developing countries despite perceived high burden. METHODS AND FINDINGS: We assessed 3,964 children (with almost equal number of boys and girls distributed in 2-<6 and 6-9 year age categories) identified from five geographically diverse populations in India using cluster sampling technique (probability proportionate to population size). These were from the North-Central, i.e., Palwal (N = 998; all rural, 16.4% non-Hindu, 25.3% from scheduled caste/tribe [SC-ST] [these are considered underserved communities who are eligible for affirmative action]); North, i.e., Kangra (N = 997; 91.6% rural, 3.7% non-Hindu, 25.3% SC-ST); East, i.e., Dhenkanal (N = 981; 89.8% rural, 1.2% non-Hindu, 38.0% SC-ST); South, i.e., Hyderabad (N = 495; all urban, 25.7% non-Hindu, 27.3% SC-ST) and West, i.e., North Goa (N = 493; 68.0% rural, 11.4% non-Hindu, 18.5% SC-ST). All children were assessed for vision impairment (VI), epilepsy (Epi), neuromotor impairments including cerebral palsy (NMI-CP), hearing impairment (HI), speech and language disorders, autism spectrum disorders (ASDs), and intellectual disability (ID). Furthermore, 6-9-year-old children were also assessed for attention deficit hyperactivity disorder (ADHD) and learning disorders (LDs). We standardized sample characteristics as per Census of India 2011 to arrive at district level and all-sites-pooled estimates. Site-specific prevalence of any of seven NDDs in 2-<6 year olds ranged from 2.9% (95% CI 1.6-5.5) to 18.7% (95% CI 14.7-23.6), and for any of nine NDDs in the 6-9-year-old children, from 6.5% (95% CI 4.6-9.1) to 18.5% (95% CI 15.3-22.3). Two or more NDDs were present in 0.4% (95% CI 0.1-1.7) to 4.3% (95% CI 2.2-8.2) in the younger age category and 0.7% (95% CI 0.2-2.0) to 5.3% (95% CI 3.3-8.2) in the older age category. All-site-pooled estimates for NDDs were 9.2% (95% CI 7.5-11.2) and 13.6% (95% CI 11.3-16.2) in children of 2-<6 and 6-9 year age categories, respectively, without significant difference according to gender, rural/urban residence, or religion; almost one-fifth of these children had more than one NDD. The pooled estimates for prevalence increased by up to three percentage points when these were adjusted for national rates of stunting or low birth weight (LBW). HI, ID, speech and language disorders, Epi, and LDs were the common NDDs across sites. Upon risk modelling, noninstitutional delivery, history of perinatal asphyxia, neonatal illness, postnatal neurological/brain infections, stunting, LBW/prematurity, and older age category (6-9 year) were significantly associated with NDDs. The study sample was underrepresentative of stunting and LBW and had a 15.6% refusal. These factors could be contributing to underestimation of the true NDD burden in our population. CONCLUSIONS: The study identifies NDDs in children aged 2-9 years as a significant public health burden for India. HI was higher than and ASD prevalence comparable to the published global literature. Most risk factors of NDDs were modifiable and amenable to public health interventions.

Amniotic Band Syndrome: A Review of 2 Cases.

Amniotic band syndrome is a rare congenital disorder caused by entrapment of fetal parts (usually a limb or digits) in fibrous amniotic bands while in utero that presents with complex multisystem anomalies. The authors report 2 children with amniotic band syndrome who presented to the ophthalmic unit of the authors' pediatric hospital. One of them presented with telecanthus, syndactyly, amputated toes, and unilateral epiphora diagnosed as congenital nasolacrimal duct obstruction. She was managed conservatively with lacrimal sac massage and provided with refractive correction while she simultaneously underwent multiple surgeries for correction of clubfoot and craniosynostosis. The second patient presented with cleft lip, cleft palate, multiple constriction bands in upper limbs and fingers with unilateral microphthalmos, microcornea, typical iris coloboma, and retinochoroidal coloboma, very similar to a case reported in literature. These 2 cases provide an overview of the clinical spectrum of ophthalmic manifestations along with their staged optimum rehabilitation.

Magnetic resonance imaging of bilateral split lateral rectus transposition to the medial globe.

PURPOSE: Medial transposition of the split or intact lateral rectus (LR) muscle in oculomotor palsy improves extreme exotropia. We studied rectus pulley positions using high-resolution surface coil MRI before and after LR split with medial transposition surgery in a patient with bilateral oculomotor and trochlear nerve palsies. METHODS: This is a report of a 14-year-old girl with 90Δ exotropia due to bilateral oculomotor and trochlear nerve palsies following traumatic midbrain infarction at age 6 years. Surgery comprised longitudinal division of each LR into a superior and inferior, threading of both halves between the inferior rectus (IR) and inferior oblique inferiorly, and inferior to the superior oblique and the superior rectus superiorly, with suturing of each 10 mm posterior to the medial rectus (MR) insertion. RESULTS: Pre-operative MRI of the orbit and extraocular muscles (EOMs) with thin, 2-mm slices revealed bilateral atrophy of all EOMs supplied by the oculomotor and trochlear nerves. Post-operative MRI at 2 months demonstrated no significant changes in rectus EOM pulley positions compared with pre-operative values. CONCLUSIONS: The LR pulley does not change position even after split LR transposition to the MR insertion, confirming the profound constraint of the connective tissue pulley system on the LR path.

Childhood hypertension, sixth nerve palsy, and renal artery stenosis.

This short report demonstrates an uncommon presentation of intracranial bleeding and sixth nerve palsy in a child with systemic hypertension due to long-standing unilateral renal artery stenosis of unknown etiology that resulted in contracture of the affected kidney and compensatory hypertrophy of the contralateral kidney. Structural renal damage and cardiac ventricular hypertrophy suggested the pathology and ensuing hypertension to be long-standing; however, renal function tests were normal at presentation. The importance of routine outpatient evaluation of systemic blood pressure in children, similar to adults, so as to diagnose and treat secondary hypertension and its causes early, before further systemic and neurological complications set in, is emphasized. The primary neuro-ophthalmological clinical presentation of the child with subsequent confluence of major pediatric domains of medicine, surgery, neurology, cardiology, nephrology, interventional radiology, and ophthalmology toward optimum multidisciplinary etiological and symptomatic management of the condition and its sequelae and subsequent rehabilitation is described.

Persistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms.

Incontinentia pigmenti (IP) is a rare neurocutaneous syndrome of X-linked dominant inheritance (1:40000 births in the Caucasian population) which is usually lethal in males. It commonly presents with skin, central nervous system, and dental anomalies. Ophthalmic associations of IP include intra-ocular anomalies such as leukocoria, megalocornea, corneal edema, band keratopathy, bullous keratopathy, iridocorneal attachments, macular capillary dropout, peripheral arteriovenous shunts, retinal neovascularization, vitreous hemorrhage, preretinal fibrosis, traction retinal detachment as well as strabismus. We report an 18-month-old developmentally delayed female child with diagnosed IP and infantile spasms conforming to the west syndrome triad, who presented with left eye microphthalmia and persistent hyperplastic primary vitreous and discuss this rare ophthalmic presentation.

Pediatric keratoplasty.

Penetrating keratoplasty in children is a highly challenging and demanding procedure associated with a high risk of graft failure or failure of amblyopia therapy in clear grafts. Nonetheless, keratoplasty remains the surgery of choice for the management of pediatric corneal stromal opacities or edema. Allograft rejection, graft infection, corneal neovascularization, glaucoma, trauma to the anterior segment, vitreous pathology, and additional surgical interventions, especially those related to glaucoma management, are important risk factors. Successful penetrating keratoplasty in children requires careful preoperative evaluation and selection of patients follow-up by well-motivated parents, an expert corneal transplant surgeon, and a devoted pediatric ophthalmologist.

Optical coherence tomography of traumatic maculopathy following blunt trauma with sugarcane.

An unusual case of traumatic maculopathy following blunt trauma with a sugarcane stick is reported in a 12-year-old boy. An area of parafoveal exudates associated with decrease in visual acuity was observed in the affected eye of the patient. Baseline parameters related to the best-corrected visual acuity, visual fields, fundus photographs, fluorescein angiography, and macular optical coherence tomography were performed and the patient was observed for 6 months with conservative management. There was complete resolution of the exudates with commensurate increase in the best-corrected visual acuity over this period. This unusual presentation of traumatic maculopathy is discussed along with the role of optical coherence tomography in such cases.

Abnormal ocular electrophysiology in Sjögren-Larsson syndrome.

Two siblings who were born out of consanguineous marriage in an Indian family and had typical clinical manifestations of Sjögren-Larsson syndrome were found to have normal electroretinogram and abnormal visual evoked potential results. Abnormal visual evoked potential results along with the presence of distinctive foveal and parafoveal deposits, which could have a prognostic bearing on the visual acuity of the patients, emphasize the importance of a complete ophthalmological and electrophysiological evaluation in all patients with Sjögren-Larsson syndrome.

Congenital eyelid colobomas in 51 patients.

PURPOSE: To review the clinical observations in the management of congenital eyelid coloboma. METHODS: Fifty-one cases of congenital eyelid colobomas including the functional and cosmetic rehabilitation of patients who were treated over a period of 18 years with an average follow-up of 4.7 years were retrospectively reviewed. RESULTS: Thirty-eight patients had an upper eyelid coloboma and 13 patients had a lower eyelid coloboma. Systemic associations included Goldenhar syndrome and Treacher-Collins-Franceschetti syndrome. Twenty-two patients with upper eyelid colobomas underwent surgery by direct apposition, eyelid sharing procedures, or a lateral rotation flap. Lower eyelid colobomas were repaired in 4 patients. CONCLUSION: Gratifying cosmetic and functional results could be achieved in all 26 patients who underwent surgery.

Worldwide inequality in access to full text scientific articles: the example of ophthalmology.

BACKGROUND: The problem of access to medical information, particularly in low-income countries, has been under discussion for many years. Although a number of developments have occurred in the last decade (e.g., the open access (OA) movement and the website Sci-Hub), everyone agrees that these difficulties still persist very widely, mainly due to the fact that paywalls still limit access to approximately 75% of scholarly documents. In this study, we compare the accessibility of recent full text articles in the field of ophthalmology in 27 established institutions located worldwide. METHODS: A total of 200 references from articles were retrieved using the PubMed database. Each article was individually checked for OA. Full texts of non-OA (i.e., "paywalled articles") were examined to determine whether they were available using institutional and Hinari access in each institution studied, using "alternative ways" (i.e., PubMed Central, ResearchGate, Google Scholar, and Online Reprint Request), and using the website Sci-Hub. RESULTS: The number of full texts of "paywalled articles" available using institutional and Hinari access showed strong heterogeneity, scattered between 0% full texts to 94.8% (mean = 46.8%; SD = 31.5; median = 51.3%). We found that complementary use of "alternative ways" and Sci-Hub leads to 95.5% of full text "paywalled articles," and also divides by 14 the average extra costs needed to obtain all full texts on publishers' websites using pay-per-view. CONCLUSIONS: The scant number of available full text "paywalled articles" in most institutions studied encourages researchers in the field of ophthalmology to use Sci-Hub to search for scientific information. The scientific community and decision-makers must unite and strengthen their efforts to find solutions to improve access to scientific literature worldwide and avoid an implosion of the scientific publishing model. This study is not an endorsement for using Sci-Hub. The authors, their institutions, and publishers accept no responsibility on behalf of readers.

Cerebral venous thrombosis with auto-immune hyperthyroidism.

Sudden deterioration of visual functions warrants comprehensive ophthalmic examination with evaluation for systemic association. Cerebral venous thrombosis (CVT) is an uncommon disorder that can present with neurological deficits. We report a young female patient aged 28 years who presented with severe headache and sudden diminution of vision and was subsequently diagnosed with hyperthyroidism and CVT. Management of CVT and hyperthyroidism hastened full recovery of visual functions.

Long-term Surgical Outcomes in the Sagging Eye Syndrome.

BACKGROUND/AIMS: Strabismus due to sagging eye syndrome (SES) caused by age-related connective tissue involution is now an established cause of diplopia in older people. High suspicion of the condition results in early recognition, often obviating extensive neurological investigations and enabling surgical correction of the strabismus. METHODS: This retrospective study reviewed surgical results in 93 patients (40 males) of average age 68 ± 12 years, who had small-angle strabismus due to SES, during the 20-year period 1994-2014. RESULTS: In central gaze, mean distance pre-operative esotropia was 4.2 ± 7.5Δ (mean, SD), while mean hypertropia was 4.7 ± 5.9Δ. Surgeries comprised medial rectus (MR) recession; lateral rectus (LR) resection; plication, imbrication, and superior transposition of the LR to the superior rectus (SR) for esotropia; and graded vertical rectus tenotomy (GVRT) or vertical muscle recession for hypertropia. Mean post-operative immediate and long-term deviation after 316 ± 265 months average follow-up was 0.2 ± 1.2Δ and 1.1 ± 2.7Δ esotropia (both distance), respectively, and 0.00Δ and 1.1 ± 2.7Δ, respectively, for hypertropia. Strabismus recurred in 19 cases. CONCLUSIONS: Progressive connective tissue involution in SES may occasionally result in symptomatic recurrences of the small-angle strabismus in about 20% of patients, irrespective of surgical procedures performed, possibly because of progressive involutional changes. This risk should be disclosed pre-operatively.

Clinical anophthalmia with orbital heterotopic brain tissue.

The authors describe the uncommon clinical presentation and treatment of a neonate with progressive proptosis, which turned out to be an ectopic cerebral rest in the orbit in the absence of a formed eye. The discussion examines the theories regarding the genesis of the condition, different locations in the body (including the orbit and the eye) in which ectopic cerebral rests have been described in the literature, and the management of the condition.

Morning glory anomaly with bilateral choroidal colobomas in a patient with Goldenhar's syndrome.

A child with Goldenhar's syndrome, bilateral choroidal colobomas, and a morning glory anomaly of the optic disk in one eye is described. Bilateral posterior segment anomalies associated with Goldenhar's syndrome are rare. An association between the morning glory anomaly and Goldenhar's syndrome has not been previously reported.

Pedigree Analysis of Familial Primary Concomitant Horizontal Strabismus in Northern India.

PURPOSE: Familial clustering of common forms of primary strabismus like esotropia (ET) and exotropia (XT) is observed in a proportion of the strabismus cohort. The genetic components of this remain unidentified. Linkage studies have demonstrated susceptibility locus for primary strabismus at the STBMS1 locus on 7p22.1 as well as other loci on 4q28.3 and 7q31.2. Recently next generation sequencing (NGS) technology has emerged as a powerful tool in discovery genomics and a large number of novel disease-causing variants are being reported. In this study, we recruited informative families for subsequent genetic analysis for disease-causing variant identification. METHODS: All consecutive families with two or more affected members with primary concomitant horizontal strabismus were prospectively recruited at the ophthalmic outpatients department (OPD) of Lady Hardinge Medical College, New Delhi, from August 2014 to February 2017. Detailed phenotypic evaluation and pedigree documentation was performed. RESULTS: Of the 39 recruited families of north Indian origin, 18 families each had affected family members demonstrating either ET or XT. 100% concordance of the phenotype in the affected family members was observed in these families. While vertical transmission was observed in 17/18 families with XT, 7 with ET had affected members across one generation, 2 demonstrated consanguineous pedigree, and 2 comprised identical twin families. In 3 families, a combination of ET and XT was noted. This comprised one family with the ET and XT patients being from 2 separate arms of the family related by marriage, one family where one sibling had XT and the other had ET, and another family where the maternal aunt of the affected proband with ET had XT. CONCLUSIONS: Subjects with familial primary concomitant strabismus recruited in this study may provide a valuable resource to unravel the genetic determinants of this condition, which is a common disorder of early childhood with high ophthalmic morbidity.

Graded vertical rectus tenotomy for small-angle cyclovertical strabismus in sagging eye syndrome.

BACKGROUND/AIMS: Graded vertical rectus tenotomy (GVRT) is postulated as effective for small-angle vertical heterotropia. We aimed to determine the dosing recommendations for GVRT in sagging eye syndrome (SES). METHODS: This was a retrospective, observational study of surgical outcomes for GVRT from 2009 to 2014 in a single surgeon's academic practice. There were 37 (20 women) patients of average age 68±10 (SD) years with comitant or incomitant hypertropia ≤10Δ caused by SES. The main outcome measure was the dose-effect of GVRT required to correct intraoperative hypertropia. RESULTS: Preoperative average central gaze hypertropia measured 4.7±2.2Δ. Three patients underwent repeat GVRT for residual or consecutive hypertropia, one undergoing it twice. All surgeries were analysed, increasing the total operations to 41. The inferior rectus tendon in the hypotropic eye was operated in 32 eyes, and the superior rectus tendon in the hypertropic eye in 9 eyes. Mean tenotomy was 68±19% of tendon width. Hypertropia was always eliminated intraoperatively by progressive GVRT. Mean hypertropia was 1.1±1.6Δ at average 93 days postoperatively. Linear regression demonstrated that 3-6Δ hypertropia correction requires 30%-90% graded tenotomy (R(2)=0.32, p<0.0001), but with substantial individual variability. Undercorrection necessitated reoperation in 10% of cases. CONCLUSION: GVRT precisely corrects hypertropia of up to 10Δ, but because of variable effect, it should be performed with intraoperative monitoring under topical anaesthesia.

Factors influencing visual rehabilitation after occlusion therapy in unilateral amblyopia in children.

BACKGROUND & OBJECTIVE: Amblyopia is one of the most common causes of visual impairment in adults and children, and visual loss may be permanent if not treated in time. Though many studies have been done on occlusion therapy which is the mainstay in the treatment of unilateral amblyopia, discrepancies exist in literature about quantification of treatment and follow up measures. The present study was undertaken to evaluate the factors responsible for the successful outcome of treatment and the optimum time required for the same in children with unilateral amblyopia. METHODS: Baseline characteristics of 63 verbal patients with unilateral amblyopia (strabismic, anisometropic, mixed) referred to the Strabismus and Amblyopia Clinic at the Dr Rajendra Prasad Centre for Ophthalmic Sciences, New Delhi between September 2001 to December 2002 who improved to the desired level of visual acuity after treatment for amblyopia in the mentioned time period, were analyzed to assess for factors that directly or indirectly influenced the optimum visual rehabilitation and the average duration of therapy required for the same. The evaluation included assessment of the baseline best-corrected visual acuity (BCVA) and refractive status in both eyes, the age at presentation, the type of amblyopia present, fixation pattern in the amblyopic eye, inter-eye visual acuity difference, and evaluation of compliance through a parental diary system. RESULTS: Baseline BCVA in the amblyopic eye was similar in all the three groups. Patients with anisometropic amblyopia showed a quicker response to therapy. Compliance to treatment was the major factor affecting the overall time required for a successful outcome in most cases. The overall time required for the treatment to be successful (including the period of maintenance) was about 1,089 h. INTERPRETATION & CONCLUSION: This hospital-based study showed that the average duration of occlusion therapy to achieve stable isoacuity was 7.2 months with an average occlusion of 6-7 h/day. Compliance to therapy was the most important factor affecting the duration of therapy. With increasing emphasis on paediatric eye diseases, amblyopia is at last getting its due importance as a cause of treatable correctable paediatric visual impairment which can have lifelong repercussions, both in terms of individual disability and financial burden to the society if not treated in time. As the therapy is simple and effective if started early, mass awareness, visual screening, and counselling would go a long way in treating the patients, thus decreasing the prevalence of amblyopia in the country.

Clinical evaluation of refractive changes following brow suspension surgery in pediatric patients with congenital blepharoptosis.

BACKGROUND AND OBJECTIVE: To evaluate the postoperative visual acuity and refractive changes occurring after bilateral frontalis brow suspension surgery in pediatric patients with congenital blepharoptosis. PATIENTS AND METHODS: Twenty-three patients between 4 and 12 years old with severe congenital blepharoptosis (unilateral in 21 cases and bilateral in 2 cases; total of 25 eyes) and poor levator function underwent bilateral frontalis brow suspension surgery by Crawford's double triangle method with 4:0 expanded polytetrafluoroethylene sutures. The non-ptotic eyes (21 eyes) undergoing frontalis brow suspension surgery served as the control group. All patients had best-corrected spectacle visual acuity (BCSVA) of more than 6/9 preoperatively in both eyes. Changes in the postoperative BCSVA, binocularity, relevant refractive parameters, lid position, lagophthalmos, lid lag, and tear break-up time were evaluated in both groups for 12 weeks and appropriate statistical tests were applied. RESULTS: Significant differences were found in the baseline characteristics and the postoperative changes in the eyes with and without ptosis. However, these were found to be transient and did not result in any new cases of amblyopia postoperatively. No complications requiring revision of surgery were seen. CONCLUSIONS: The changes in the BCSVA after frontalis brow suspension surgery are transient. Retinoscopy, manual keratometry, and corneal videokeratoscopy are simple and effective methods to evaluate the sequential refractive changes occurring in these eyes.

Cone-rod dystrophy and acquired dissociated vertical nystagmus.

Although usually a manifestation of vestibular or neurological disease, acquired nystagmus occasionally can be seen in ocular diseases such as ocular albinism and cone dystrophy. The present case of cone-rod dystrophy presenting with acquired dissociated vertical nystagmus probably demonstrates another unusual manifestation of cone-rod dystrophy.

Profile of amblyopia in a hospital referral practice.

OBJECTIVE: Evaluation of the clinical profile and distribution of different sub-types of amblyopia in a referral eye hospital in India. METHODS: This was a prospective hospital-based observational study, evaluating the clinical profile of patients with amblyopia presenting to a referral strabismology practice. The examination included assessment of the visual acuity, the refractive status, the fixation pattern, the grade of binocularity, and evaluation of the associated strabismus, if any before treatment was started. RESULTS: The average age of the patients at presentation was 7.97?6.18 years with 81 out of 683 patients (11.8%) presenting above the age of 20 years. The best-corrected visual acuity (BCVA) was less than 6/60 in the amblyopic eye in 121 out of 733 eyes (16.5%). Strabismic amblyopia was the most common sub-type of amblyopia seen (274/733 eyes, 37.38%). Though patients with anisometropic amblyopia presented at a later age (average of 10.03+/-6.92 years), they had better visual acuity, binocular functions, and centricity of fixation at all ages, relative to other sub-types of amblyopia. The BCVA did not show any co-relation with the age of presentation [co-relation co-efficient (CF) of 0.074], refractive status of the amblyopic eye (CF of 0.078), the type of amblyopia (CF of 0.196), or the type of strabismus present (CF of 0.079). However, a very significant co-relation was seen between the BCVA and the fixation pattern of the amblyopic eye (CF of 0.817). CONCLUSIONS: Lack of knowledge and awareness about amblyopia and its appropriate timely management has been the main cause for the late presentations and significant visual impairment associated with the condition.