Prenatal Diagnosis and Neurodevelopmental Outcome in Isolated Cerebellar Hypoplasia of Suspected Hemorrhagic Etiology: a Retrospective Cohort Study

Scelsa, Barbara; Cutillo, G; Lanna, M.; Righini, Andrea; Balestriero, Marina Antonella; Brazzoduro, Valeria; Zambrano, Stefania; Parazzini, Cecilia; Alfei, Enrico; Rustico, Mariangela

doi:10.1007/s12311-021-01341-9

Cited by 6 publications

(4 citation statements)

References 22 publications

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“…However, the study included not only cases with isolated cerebellar hypoplasia, but also subjects with complex conditions, including genetic syndromes [ 33 ]. More recently, a small cohort of children with isolated cerebellar disruption of hemorrhagic origin has been described [ 32 ]. The neurodevelopmental outcome was assessed with standardized tests at a median age of 3 years and 6 months.…”

Section: Fetal Cns Abnormalitiesmentioning

confidence: 99%

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Fetal Neurology: From Prenatal Counseling to Postnatal Follow-Up

Scelsa

2022

Diagnostics

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Brain abnormalities detected in fetal life are being increasingly recognized. Child neurologists are often involved in fetal consultations, and specific fetal neurology training has been implemented in many countries. Pediatric neurologists are asked to examine the data available and to contribute to the definition of the long-term outcomes. Ventriculomegaly, posterior fossa malformations, and agenesis/dysgenesis of corpus callosum are among the most common reasons for antenatal neurological consultations. Fetuses with central nervous system and extra-CNS anomalies should ideally be managed in secondary/tertiary hospitals where obstetricians who are experts in fetal medicine and pediatric specialists are available. Obstetricians play a critical role in screening, performing detailed neurosonography, and referring to other specialists for additional investigations. Clinical geneticists are frequently asked to propose diagnostic tests and counsel complex fetal malformations whose phenotypes may differ from those during postnatal life. Advances in fetal MRI and genetic investigations can support the specialists involved in counseling. Nevertheless, data interpretation can be challenging, and it requires a high level of expertise in a multidisciplinary setting. Postnatally, child neurologists should be part of an integrated multidisciplinary follow-up, together with neonatologists and pediatricians. The neurodevelopmental outcomes should be assessed at least up to school age. Children should be evaluated with formal tests of their gross motor, cognitive, language, fine motor/visuo-perceptual skills, and their behavior. In this perspective, fetal neurology can be regarded as the beginning of a long journey which continues with a prolonged, structured follow-up, support to the families, and transition to adult life. A review of the most common conditions is presented, along with the long-term outcomes and a proposal of the neurodevelopmental follow-up of children with CNS malformation which are diagnosed in uterus.

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Section: Fetal Cns Abnormalitiesmentioning

confidence: 99%

“…In this cohort of children, the vermis involvement was not strongly associated with an unfavorable outcome. Additionally, the extent of the cerebellar loss and the contralateral pons atrophy described on the postnatal MRI did not seem to suggest that there would be a poorer prognosis [ 32 ].…”

Section: Fetal Cns Abnormalitiesmentioning

confidence: 99%

Fetal Neurology: From Prenatal Counseling to Postnatal Follow-Up

Scelsa

2022

Diagnostics

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“…Radiologic evidence of cerebellar subarachnoid and parenchymal hemorrhages correlates with poor neurodevelopmental outcomes (Johnsen et al, 2005;Steggerda et al, 2009;Zayek et al, 2012;Matsufuji et al, 2017;Boswinkel et al, 2019;Brossard-Racine and Limperopoulos, 2021b). Hemorrhage is also highly associated with cerebellar hypoplasia (Volpe, 2009;Aldinger et al, 2019;Gano and Barkovich, 2019;Scelsa et al, 2022). Additionally, documented fetal cerebellar hemorrhage has been associated with cerebellar hypoplasia and neurodevelopmental deficits in full term children (Poretti et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

Neonatal Subarachnoid Hemorrhage Disrupts Multiple Aspects of Cerebellar Development

Butler

Skibo²,

Traudt³

et al. 2023

Preprint

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Over the past decade, survival rates for extremely low gestational age neonates (ELGANs; <28 weeks gestation) has markedly improved. Unfortunately, a significant proportion of ELGANs will suffer from neurodevelopmental dysfunction. Cerebellar hemorrhagic injury (CHI) has been increasingly recognized in the ELGANs population and may contribute to neurologic dysfunction; however, the underlying mechanisms are poorly understood. To address this gap in knowledge, we developed a novel model of early isolated posterior fossa subarachnoid hemorrhage (SAH) in neonatal mice and investigated both acute and long-term effects. Following SAH on postnatal day 6 (P6), we found significant decreased levels of proliferation with the external granular layer (EGL), thinning of the EGL, decreased Purkinje cell (PC) density, and increased Bergmann glial (BG) fiber crossings at P8. At P42, CHI resulted in decreased PC density, decreased molecular layer interneuron (MLI) density, and increased BG fiber crossings. Results from both Rotarod and inverted screen assays did not demonstrate significant effects on motor strength or learning at P35-38. Treatment with the anti-inflammatory drug Ketoprofen did not significantly alter our findings after CHI, suggesting that treatment of neuro-inflammation does not provide significant neuroprotection post CHI. Further studies are required to fully elucidate the mechanisms through which CHI disrupts cerebellar developmental programming in order to develop therapeutic strategies for neuroprotection in ELGANs.

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“…Radiologic evidence of cerebellar subarachnoid and parenchymal hemorrhages correlates with poor neurodevelopmental outcomes (Johnsen et al, 2005;Steggerda et al, 2009;Zayek et al, 2012;Matsufuji et al, 2017;Boswinkel et al, 2019;Brossard-Racine and Limperopoulos, 2021). Hemorrhage is also highly associated with cerebellar hypoplasia (Volpe, 2009;Aldinger et al, 2019;Gano and Barkovich, 2019;Scelsa et al, 2022). Additionally, documented fetal cerebellar hemorrhage has been associated with cerebellar hypoplasia and neurodevelopmental deficits in full term children (Poretti et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

Neonatal subarachnoid hemorrhage disrupts multiple aspects of cerebellar development

Butler¹,

Skibo²,

Traudt³

et al. 2023

Front. Mol. Neurosci.

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Over the past decade, survival rates for extremely low gestational age neonates (ELGANs; <28 weeks gestation) has markedly improved. Unfortunately, a significant proportion of ELGANs will suffer from neurodevelopmental dysfunction. Cerebellar hemorrhagic injury (CHI) has been increasingly recognized in the ELGANs population and may contribute to neurologic dysfunction; however, the underlying mechanisms are poorly understood. To address this gap in knowledge, we developed a novel model of early isolated posterior fossa subarachnoid hemorrhage (SAH) in neonatal mice and investigated both acute and long-term effects. Following SAH on postnatal day 6 (P6), we found significant decreased levels of proliferation with the external granular layer (EGL), thinning of the EGL, decreased Purkinje cell (PC) density, and increased Bergmann glial (BG) fiber crossings at P8. At P42, CHI resulted in decreased PC density, decreased molecular layer interneuron (MLI) density, and increased BG fiber crossings. Results from both Rotarod and inverted screen assays did not demonstrate significant effects on motor strength or learning at P35–38. Treatment with the anti-inflammatory drug Ketoprofen did not significantly alter our findings after CHI, suggesting that treatment of neuro-inflammation does not provide significant neuroprotection post CHI. Further studies are required to fully elucidate the mechanisms through which CHI disrupts cerebellar developmental programming in order to develop therapeutic strategies for neuroprotection in ELGANs.

show abstract

Prenatal Diagnosis and Neurodevelopmental Outcome in Isolated Cerebellar Hypoplasia of Suspected Hemorrhagic Etiology: a Retrospective Cohort Study

Cited by 6 publications

References 22 publications

Fetal Neurology: From Prenatal Counseling to Postnatal Follow-Up

Fetal Neurology: From Prenatal Counseling to Postnatal Follow-Up

Neonatal Subarachnoid Hemorrhage Disrupts Multiple Aspects of Cerebellar Development

Neonatal subarachnoid hemorrhage disrupts multiple aspects of cerebellar development

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