comfortable and nonthreatening setting, may reduce stress and anxiety both in parents and in children. During our almost 6-month experience, this remote approach has allowed us to actively involve parents, acting on each family's home environment and on daily parent-infant interaction and tailoring the neurodevelopmental promotion intervention to the specific needs of the single family. Nevertheless, applying telemedicine to deliver the follow-up programme was sometimes problematic, for example, in the case of younger babies and families unable to afford the necessary technology. Effective tele-observation of younger babies (i.e., less than 3 months of age) depends on many variables (such as the infant's behavioural state, which may be linked to meal times, episodes of infantile colic and so on) and therefore required more time and organization. Currently, we are trying to create, for younger children, simple protocols for tele-observation sessions. The idea is to have parents record the sessions using smartphones and then share them with medical staff. We are also offering online information boards devoted to preterm children's characteristics and needs at different ages, where parents can find suggestions on appropriate toys, play and ways of helping children reach developmental milestones. Tele-observations and early tele-interventions are nonintrusive, family-centred and reassuring ways to support and communicate with families of preterm children during the COVID-19 pandemic. We believe these valuable approaches should continue to be implemented in follow-up programmes even after the current emergency. Difficult and unexpected circumstances sometimes bring to light possibilities and opportunities that we might not have thought of otherwise. We suggest that remote habilitation services could ensure continuity of intervention and minimize potential developmental delays in all situations (infection or other conditions) that require children to be isolated, or when patients are not within easy reach of specialized support.
BackgroundMutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability. To date, the spectrum of radiological features observed in patients with OTX2 mutations has never been summarized.Case presentationIn this report, we describe a case of large microdeletion encompassing OTX2 but not BMP4 presenting with a syndromic anophthalmia with corpus callosum hypoplasia, pituitary gland hypoplasia and vermian hypoplasia.ConclusionOur case report provides an illustration of the neuroradiological spectrum in a case of OTX2-related syndrome and the first radiological evidence of 14q22.2q23.1 deletion associated posterior cranial fossa anomalies.
Preterm very low birth weight infants (VLBWi) are known to be at greater risk of adverse neurodevelopmental outcome. Identifying early factors associated with outcome is essential in order to refer patients for early intervention. Few studies have investigated neurodevelopmental outcome in Italian VLBWi. The aim of our longitudinal study is to describe neurodevelopmental outcome at 24 months of corrected age in an eleven-year cohort of 502 Italian preterm VLBWi and to identify associations with outcome. At 24 months, Griffiths’ Mental Developmental Scales were administered. Neurodevelopmental outcome was classified as: normal, minor sequelae (minor neurological signs, General Quotient between 76 and 87), major sequelae (cerebral palsy; General Quotient ≤ 75; severe sensory impairment). 75.3% showed a normal outcome, 13.9% minor sequelae and 10.8% major sequelae (3.8% cerebral palsy). Male gender, bronchopulmonary dysplasia, abnormal neonatal neurological assessment and severe brain ultrasound abnormalities were independently associated with poor outcome on multivariate ordered logistic regression. Rates of major sequelae are in line with international studies, as is the prevalence of developmental delay over cerebral palsy. Analysis of perinatal complications and the combination of close cUS monitoring and neurological assessment are still essential for early identification of infants with adverse outcome.
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