Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.

BACKGROUND: Neuronal ceroid lipofuscinosis is a group of neurodegenerative disorders with varying visual dysfunction. CLN3 is a subtype which commonly presents with visual decline. Visual symptomatology can be indistinct making early diagnosis difficult. This study reports ocular biomarkers of CLN3 patients to assist clinicians in early diagnosis, disease monitoring, and future therapy. METHODS: Retrospective review of 5 confirmed CLN3 patients in our eye clinic. Best corrected visual acuity (BCVA), electroretinogram (ERG), ultra-widefield (UWF) fundus photography and fundus autofluorescence (FAF), and optical coherence tomography (OCT) studies were undertaken. RESULTS: Five unrelated children, 4 females and 1 male, with median age of 6.2 years (4.6-11.7) at first assessment were investigated at the clinic from 2016 to 2021. Four homozygous and one heterozygous pathogenic CLN3 variants were found. Best corrected visual acuities (BCVAs) ranged from 0.18 to 0.88 logMAR at first presentation. Electronegative ERGs were identified in all patients. Bull's eye maculopathies found in all patients. Hyper-autofluorescence ring surrounding hypo-autofluorescence fovea on FAF was found. Foveal ellipsoid zone (EZ) disruptions were found in all patients with additional inner and outer retinal microcystic changes in one patient. Neurological problems noted included autism, anxiety, motor dyspraxia, behavioural issue, and psychomotor regression. CONCLUSIONS: CLN3 patients presented at median age 6.2 years with visual decline. Early onset maculopathy with an electronegative ERG and variable cognitive and motor decline should prompt further investigations including neuropaediatric evaluation and genetic assessment for CLN3 disease. The structural parameters such as EZ and FAF will facilitate ocular monitoring.

Quality home visits: Activities to promote meaningful interactions.

Examination of and support for specific practices that promote high-quality home visiting are essential as family support programs continue to expand across the country. The current study used direct observation of 91 home visits across 41 home visitors to examine relations among interaction partners, content of the interactions, the home-visitors' activities, and quality of home-visitors' practices and family-members' engagement within programs funded by the Maternal, Infant, and Early Childhood Home Visiting program. More time spent in triadic interactions focused on child-related content, as measured by the Home Visit Rating Scale-Revised, was related to higher quality of family engagement in home visits, as measured with the Home Visit Observation Rating Scales. Time spent in adult-focused interactions and administrative tasks, however, was related to lower quality of home-visiting practices and family engagement. Implications for research and practice are discussed.

A medida que los programas de apoyo familiar continúan expandiéndose a lo largo del país, se hace esencial examinar y apoyar prácticas específicas que promueven la alta calidad de las visitas a casa. El presente estudio usó observaciones directas de 91 visitas a casa llevadas a cabo por 41 visitadores con el fin de examinar las relaciones entre la participación de todas las partes involucradas, el contenido de las interacciones, las actividades de los visitadores a casa, y la calidad tanto de las prácticas de los visitadores como de la participación de los miembros de la familia dentro de los programas subvencionados por MIECHV. Más tiempo empleado en interacciones tríadicas enfocadas en contenidos relacionados con el niño, tal como se midió por medio de las Escalas Revisadas de Evaluación de Visitas a Casa (HVOF-R; McBride y Peterson, 1996), estuvo relacionado con más alta calidad de la participación de la familia en las visitas a casa, tal como se midió por medio de las Escalas de Evaluación de la Observación de Visitas a Casa (HOVRS; Roggman et al., 2014). El tiempo empleado en interacciones enfocadas en los adultos y tareas administrativas, sin embargo, estuvo relacionado con más baja calidad de las prácticas de visita a casa y participación de la familia. Se discuten las implicaciones para la investigación y la práctica.

L'examen et le soutien de pratiques spécifiques qui promeuvent la visite à domicile de qualité sont essentiels alors que les programmes de soutien à famille continuent de se développer aux Etats-Unis. Cette étude a utilisé une observation directe de 91 visites à domicile effectuées par 41 visiteurs afin d'examiner les relations entre les partenaires d'interaction, le contenu des interactions, les activités des visiteurs ou visiteuses à domicile, et la qualité des pratiques des visiteurs ou visiteuses à domicile ainsi que l'engagement des membres de la famille au sein des programmes américains de visite à domicile subventionnés par le programme américain Maternal, Infant, and Early Childhood Home Visiting. Plus de temps passé dans les interactions triadiques mettant l'accent sur le contenu lié à l'enfant tel qu'il est mesuré par la version révisée de l'Echelle d'Evaluation de la Visite à Domicile (HVOF-R; McBride & Peterson, 1996) a été lié à une plus grande qualité de l'engagement de la famille durant les visites à domicile telles qu'elles ont été mesurées au moyen des Echelles d'Evaluation de l'Observation de la Visite à Domicile (HOVRS; Roggman et al., 2014). Le temps passé en interactions avec les adultes et en tâches administratives étaient lié à des pratiques de visite à domicile et à un engagement familial de moindre qualité. Les implications pour les recherches et la pratique sont discutées.

Triadic Interactions in MIECHV: Relations to Home Visit Quality.

Objectives This study was conducted to look inside home visits to examine active intervention ingredients used and their relations with ratings of home visit quality. In particular, triadic interactions that engage the home visitor, parent, and child together and provide a context for home visitors to facilitate parent-child interactions by observing, modeling and coaching behaviors that promote optimal child development were examined. Methods Observations were conducted to describe intervention activities (with the HVOF-R) and rate quality of home visit practices and engagement (with the HOVRS A+). Results Analyses revealed the majority of home visit time (71%) was spent in home visitor-parent interactions with only a small proportion of home visit time (17%) spent in triadic interactions and an even smaller proportion of time (2%) during which home visitors actively coached parent-child interactions. Amount of time spent in triadic interactions was related positively to quality ratings of home visit practices and engagement. Moreover, time spent coaching parent-child interactions uniquely predicted home visit quality after accounting for visit length and home visitor time spent observing and modeling. Conclusions for Practice Increasing the percentage of home visitors engage the parent and child in triadic interaction should be a focus for home visiting programs. Home visitors will likely need professional development and supervisory support to enhance their skills in coaching parent-child interactions during triadic interactions.

Correction to: Triadic Interactions in MIECHV: Relations to Home Visit Quality.

The article "Triadic interactions in MIECHV: Relations to home visit quality", written by Carla A. Peterson, Kere Hughes-Belding, Neil Rowe, Liuran Fan, Melissa Walter, Leslie Dooley, Wen Wang and Chloe Steffensmeier, was originally published electronically on the publisher's internet portal (currently SpringerLink) on 12 June 2018 without open access. With the author(s)' decision to opt for Open Choice the copyright of the article changed on 9 July 2018 to

Visual outcomes and late complications in paediatric orbital rhabdomyosarcoma.

BACKGROUND: Orbital rhabdomyosarcoma is a rare but important malignancy for an ophthalmologist. We aimed to review the management and outcome, including late orbital complications and visual acuity over 25 years from a specialist paediatric ophthalmology department. DESIGN: This was a retrospective longitudinal case series. PARTICIPANTS: All patients presenting to our institution between December 1989 and December 2014 with a histopathological diagnosis of rhabdomyosarcoma originating from (primary) or invading into the orbit (paranasal) were included. METHODS: The oncology and ophthalmology databases were cross referenced to identify patients. MAIN OUTCOME MEASURES: Baseline demographics, chemotherapy, surgical and radiation dose, visual acuity, ocular and systemic complications, local and distant recurrence and mortality were recorded for each patient. Outcomes were reported with descriptive statistics. RESULTS: Eighteen patients were included. Median age was 4.3 years (range 4 months to 16 years) with average follow-up of 9 years. The 5-year disease-specific survival was 100% for the orbital group and 25% for the paranasal group; 29% of the orbital group maintained vision better than 6/12 in their treated eye, and the overall globe conservation rate was 71%. The most common ocular complications were cataract and keratopathy in both the orbital and paranasal groups. Other ocular complications included orbital hypoplasia or fat atrophy, eyelid malposition and lacrimal duct stenosis. CONCLUSIONS: Ophthalmic late effects are seen in a significant proportion of patients with orbital rhabdomyosarcoma. There is excellent survival in these patients, and continued efforts should be made to reduce the late effects of therapy.

A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology report.

PURPOSE: Phosphoglycerate kinase (PGK) deficiency is an X-linked neurometabolic genetic disorder with variable systemic manifestations. So far, only one patient with retinal anomalies has been reported, but no visual electrophysiology findings were described. We report the first description of visual electrophysiology in a child with PGK deficiency. This provides further information for the site of involvement in the eye. METHOD: A case history of a nine-year-old boy with PGK deficiency is reported. RESULTS: This patient was diagnosed with PGK deficiency by screening soon after birth, as his mother was a known carrier of a PGK gene mutation. A bone marrow transplant was performed at the age of 9 months. He had two episodes of encephalopathy following the transplant but no acute episode of haemolysis. From the age of 6 years, his vision has been deteriorating. Visual electrophysiology results identified retinal involvement involving both rod and cone dysfunction. The visual evoked potential was normal. CONCLUSIONS: Retinal dystrophy may be one of the clinical manifestations of phosphoglycerate kinase deficiency.

Prevalence of Glaucoma Following Paediatric Cataract Surgery in an Australian Tertiary Referral Centre.

Purpose: Secondary glaucoma following childhood cataract surgery remains the most common complication in the paediatric population. This study aimed to determine the incidence, time to progression and risk factors associated with the development of secondary glaucoma following childhood cataract surgery in a paediatric population. Outcome measures were the detection of secondary glaucoma, postoperative time frame to development of glaucoma and risk factors in its development. Patients and Methods: A retrospective case series was conducted between 2003 and 2017 at a tertiary children's hospital in Sydney. The patient population included those 16 years or less of age who underwent congenital cataract extraction, with or without an intraocular lens implantation and who had been followed up for a minimum of six months following surgery. Patients were excluded if they had cataract aetiology other than congenital idiopathic cataract. Multivariate Cox Regression analysis was used to determine relevant risk factors. Results: A total of 320 eyes in 216 patients were included in the study. Secondary glaucoma developed in 11.9% of eyes. In those that developed secondary glaucoma, the average time to onset from surgery was 3.2 years (median 2.75 years). The mean age of diagnosis of secondary glaucoma was 4.58 years (median 3.5 years, range 2.5 months to 13.23 years). Microcornea was the only adverse characteristic significantly associated with an increased risk of secondary glaucoma (HR 6.30, p 0.003). Conclusion: Despite modern surgical techniques, glaucoma remains a significant long-term sequela in children following cataract surgery.

The comparative ethics of artificial-intelligence methods for military applications.

Concerns about the ethics of the use of artificial intelligence by militaries have insufficiently addressed the differences between the methods (algorithms) that such software provides. These methods are discussed and key differences are identified that affect their ethical military use, most notably for lethal autonomous systems. Possible mitigations of ethical problems are discussed such as sharing decision-making with humans, better testing of the software, providing explanations of what is being done, looking for biases, and putting explicit ethics into the software. The best mitigation in many cases is explaining reasoning and calculations to aid transparency.

Successful treatment of infantile haemangiomas of the orbit with propranolol.

BACKGROUND: Propranolol is a novel therapeutic agent in the treatment of cutaneous infantile haemangiomas. We assessed the effect of propranolol therapy in infantile haemangiomas of the orbit. METHODS: A case series of four patients with orbital infantile haemangiomas were referred for management in our tertiary referral hospitals. Two of the patients had inadequate responses to prior corticosteroid therapy. One of the patients was commenced on propranolol at 2.5 years of age when the lesion was not in the proliferative phase. This represented the first case report of propranolol treatment for infantile haemangioma outside infancy. The other three children were in their infancy when propranolol was commenced. The patients were treated with oral propranolol. RESULTS: All patients had significant improvement in their physical appearance, ocular examination findings and size of their lesions on radiological evaluation. No side-effects of propranolol treatment were observed. CONCLUSIONS: Propranolol is a promising treatment against infantile haemangiomas in the orbit, not only in infants but also in an older child with a stable lesion.

Panophthalmitis and Orbital Inflammation with Cavernous Sinus Thrombosis Following Cataract Surgery.

BACKGROUND: Panophthalmitis is a severe inflammation of the globe that can result as a rare complication of ophthalmic surgery. In severe cases, it may also be associated with orbital inflammation and cavernous sinus thrombosis. PURPOSE: This case demonstrates a rare and life-threatening post-operative complication of cataract surgery. We also hope to highlight the importance of considering the relevant risk factors associated with developing potential infections after cataract surgery, including the use of corneal sutures, high-risk behaviours such as excessive eye-rubbing, and non-compliance with appointments and post-operative medications. CASE REPORT: We report the case of a 35-year-old female with severe autism and developmental delay who developed panophthalmitis, orbital inflammation and cavernous sinus thrombosis 6 weeks post cataract surgery. The likely cause was corneal suture-related microbial keratitis, and the patient required enucleation due to sepsis. CONCLUSION: Post-surgical panophalmitis is a rapidly progressive disease that is not only sight- but life-threatening and demands urgent and intensive treatment. Consideration of early enucleation may be required to prevent deterioration in such patients.

Paediatric Horner Syndrome: How much further to investigate?

We report an infant with an early-onset Horner syndrome and normal urinary catecholamine levels. Further investigations with Nuclear medicine imaging with123I-MIBG (meta-iodo benzyl-guanidine) confirmed a right thoracic inlet mass consistent with a neuroblastoma, a tumor of neural crest origin. The authors emphasize the need for investigating idiopathic acquired pediatric Horner syndrome and the value of an MIBG scan as a diagnostic test for suspected neuroblastoma.

Visual manifestations of craniofrontonasal dysplasia.

In this sample of craniofrontonasal dysplasia, a 44.4% prevalence of visual impairment was observed, with more than half being due to potentially correctable causes of visual loss, including amblyopia and anisometropia. High prevalences of strabismus (88.9%) and V-pattern (55.5%) in craniofrontonasal dysplasia were also demonstrated. All three patients who underwent strabismus surgery showed improvement in ocular alignment postoperatively. This group needs regular eye examinations to assess for visual impairment and provide timely intervention for modifiable causes of visual loss.

Comparison of silastic and banked fascia lata in pediatric frontalis suspension.

PURPOSE: To compare the use of Silastic and banked fascia lata in pediatric frontalis suspension surgery for functional success, ptosis recurrence, and infection and granuloma rates. METHODS: This retrospective study analyzed the medical records of 72 patients who underwent 131 frontalis suspension operations using either Silastic or banked fascia lata during the past 12 years at Children's Hospital at Westmead, Sydney, Australia. RESULTS: Functional success rates for primary frontalis suspension procedures were not significantly different for banked fascia lata and Silastic (60% versus 67.2%, respectively; P = .4666). Infection and granuloma rates also were not significantly different (7.1% for banked fascia lata versus 15.2% for Silastic; P = .1381). There was, however, a statistically significant difference between the two materials in ptosis recurrence (35.3% for banked fascia lata versus 13% for Silastic; P = .0062). CONCLUSIONS: Silastic was significantly better than banked fascia lata in terms of ptosis recurrence. Both materials were comparable in terms of functional success after one procedure and in infection and granuloma rates. Given the conflicting evidence presented in the literature, large prospective studies are needed to compare the use of the most common synthetic materials with banked fascia lata in pediatric frontalis suspension.

Capsular tension segment in a case of microspherophakia.

BACKGROUND: A child with microspherophakia is described who was managed with scleral fixation of the loose capsular bag using Ahmed capsular tension segment and the small capsular bag was expanded using a standard capsular tension ring. METHODS: The child presented initially with lenticular myopia and concomitant glaucoma for which he was treated with peripheral iridotomy alone. The IOP remained uncontrolled after iridotomy procedure. Therefore, bimanual clear lens aspiration was performed; standard capsular tension ring was implanted 'in the bag' and Ahmed capsular tension segment was sutured to the sclera to stabilize the capsular complex. Foldable acrylic IOL was then injected into the bag. RESULTS: Postoperatively, the child had an unaided acuity of 20/30 on ETDRS. The IOL was centered well and the capsular bag had expanded due to the effect of CTR. CONCLUSIONS: This 'dual support' technique takes advantage of using both CTR and CTS to overcome the generalized zonulopathy found in cases of microspherophakia. It effectively counteracts lenticular myopia, treats glaucoma, strengthens the capsular bag and does not entail the future risk of IOL-bag dislocation.

Prevalence and causes of visual impairment in craniosynostotic syndromes.

BACKGROUND: To assess the prevalence and causes of visual impairment in patients with craniosynostotic syndromes of Apert, Crouzon, Pfeiffer, Saethre-Chotzen and craniofrontonasal dysplasia. METHODS: The medical records of patients who attended the Craniofacial Clinic at two large paediatric hospitals in Sydney, Australia between 1983 and 2004 were retrospectively reviewed. Presenting visual acuity (VA) was assessed using tests appropriate to age and cognition: 'fix and follow' in infants (<18 months old), Teller card acuity in preverbal children (18 months to less than 3 years old), Kay picture test or Sheridan-Gardiner test in children aged between 3 and less than 6 years and Snellen chart in those aged 6 years or older. Visual impairment was defined as the inability to fix and follow or presenting VA < 6/12 in the better eye. Amblyopia was defined as a two-line difference in VA between both eyes in the absence of an organic eye disease. RESULTS: Sixty-three patients with craniosynostotic syndromes were identified, of whom 55 had VA assessed at the first visit. Of these 55, 19 (35.5%) had bilateral visual impairment and 5 (9.1%) had unilateral visual impairment. Causes of visual impairment include amblyopia (16.7%), ametropia (25%), optic atrophy (16.7%) and exposure keratopathy (4.2%). Risk factors for amblyopia include strabismus (43.3%), astigmatism (> or =1.5 dioptres) (39.5%), hypermetropia (18.4%) and anisometropia (> or =1.5 dioptre difference between both eyes) (15.8%). Six of the 63 patients (9.5%) had papilloedema; those who were followed up showed gradual resolution of papilloedema following timely decompressive surgery. CONCLUSIONS: A high prevalence of visual impairment in patients with craniosynostotic syndromes was found, almost half of them due to potentially correctable causes, including amblyopia and ametropia. Optic atrophy remains an important cause of visual impairment. Further studies are needed to assess the timing and efficacy of intervention for modifiable causes of visual loss in craniosynostotic syndromes.