Publications by authors named "Domenico Marco Romeo"

6 Publications

  • Page 1 of 1

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset.

Neurol Sci 2021 Jul 22. Epub 2021 Jul 22.

Università Cattolica del Sacro Cuore, Rome, Italy.

Background: JAM3 gene, located on human chromosome 11q25, encodes a member of the junctional adhesion molecule (JAM) family. Mutations of this gene are associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC).

Case Report: Herein, we present a newborn male with a prenatal suspicion of bilateral cataracts but without fetal ultrasound findings of cortical malformations. He was postnatally diagnosed with a clinical picture of HDBSCC and Early-onset Developmental and Epileptic Encephalopathy (DEE), associated to a homozygous variant of JAM3 gene.

Conclusion: Identification of this variant in affected individuals has implications for perinatal and postnatal management and genetic counseling. To the best of our knowledge, this is the first case reported of a child with a JAM3 variant in Italy, from a different ethnic background than the other reported children until now (Saudi Arabian, Turkish, Afghani, and Moroccan origin). JAM3 screening could be requested in prenatal diagnosis of fetal congenital cataracts and included in Next-Generation DNA Sequencing panels.
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http://dx.doi.org/10.1007/s10072-021-05480-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8295029PMC
July 2021

Extra-uterine growth restriction in preterm infants: Neurodevelopmental outcomes according to different definitions.

Eur J Paediatr Neurol 2021 Jul 24;33:135-145. Epub 2021 Jun 24.

Neonatology Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "Agostino Gemelli" IRCCS, Rome, Italy; Università Cattolica Del Sacro Cuore, Rome, Italy.

Aim: Extra-uterine Growth Restriction (EUGR) is common among preterm infants. Two types of EUGR definitions are still now available: cross-sectional definitions and longitudinal ones. In a cohort of very preterm infants, we aimed to evaluate which definition could better predict neurodevelopmental outcomes at 2 years of corrected age. We used Italian Neonatal Study Charts (INeS) growth charts and INTERGROWTH-21st (IG-21) standard charts and compared results.

Method: We restrospectively collected data from clinical charts of 324 preterm newborns with a gestational age ≤30 weeks born from 2012 to 2017. Then we compared forty-eight definitions (24 cross-sectional and 24 longitudinal) of EUGR, in term of neurodevelopmental outcomes at 2 years of corrected age.

Results: We included in the study 254 preterm infants, whose clinical information met the enrolment criteria. Nineteen out of 48 definitions of EUGR were significantly predictive both for Griffith's Development Quotient (GDQ) and Neurodevelopment Impairment (NDI). Among these, longitudinal definitions appeared to have a higher negative predictive value for NDI than cross-sectional ones. Furthermore, infants with EUGR appeared to have a lower cognitive score than their peers without EUGR.

Interpretation: A loss of Zs > 1 SDS in weight and head circumference, calculated from when physiological weight loss is over and identified as soon as possible rather than at discharge, better predicts neurodevelopmental outcomes of preterm infants.
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http://dx.doi.org/10.1016/j.ejpn.2021.06.004DOI Listing
July 2021

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.

Orphanet J Rare Dis 2021 01 22;16(1):43. Epub 2021 Jan 22.

Center for Rare Diseases and Birth Defects, Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Gemelli 8, 00168, Rome, Italy.

Background: Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the musculo-skeletal phenotype in both disorders has been poorly characterized.

Patients And Methods: Herein we reported data on orthopedic findings and functional status of a large sample of CS and CFCS patients. Thirty-four patients (CS = 17 and CFCS = 17) were recruited. Functional and disability evaluations were performed by assessing the 6-min walking test (6MWT) and Pediatric Outcomes Data Collection Instrument (PODCI). Genotype/phenotype correlation was also provided.

Results: Orthopedic manifestations are highly prevalent in CS and CFCS and overlap in the two disorders. Overall, patients with CS harboring the recurrent HRAS Gly12Ser substitution show a more severe skeletal phenotype compared to patients carrying the Gly12Ala and Gly13Cys variants. Among CFCS patients, those with the MAP2K1/2 variant show different skeletal characteristics compared to BRAF variants, with a higher prevalence of orthopedic abnormalities. Functional assessment showed that patients with CS and CFCS reached lower values compared to the general population, with CFCS patients displaying the lowest scores.

Conclusions: Orthopedic manifestations appear universal features of CS and CFCS and they can evolve across patients' life. Longitudinal assessment of disability status by using 6MWT and PODCI could be useful to evaluate the functional impact of orthopedic manifestations on patients' outcome and help planning a tailored treatment of these comorbidities.
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http://dx.doi.org/10.1186/s13023-021-01674-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7821553PMC
January 2021

Expanding the spectrum of congenital myopathies: prenatal onset with extreme hyperextension of the neck.

Neurol Sci 2021 Apr 26;42(4):1549-1553. Epub 2020 Nov 26.

Neonatology Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

We describe the case of a male newborn presenting with a prenatal diagnosis of persistent hyperextension of the fetal neck and severe hypotonia and respiratory insufficiency at birth. Facial weakness, increased serum creatine kinase levels, and abnormal feeding, together with other signs, such as severe contractures, also classically associated with congenital myopathies prompted to perform a muscle biopsy showing internal rods suggestive of a possible nemaline myopathy. These findings suggest that a careful neurological examination should be performed in infants with persistent hyperextension of the fetal neck to exclude weakness and a possible underlying muscle disorder.
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http://dx.doi.org/10.1007/s10072-020-04937-xDOI Listing
April 2021

Neurodevelopmental outcomes in very preterm infants: The role of severity of Bronchopulmonary Dysplasia.

Early Hum Dev 2021 01 16;152:105275. Epub 2020 Nov 16.

Neonatology Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "Agostino Gemelli" IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy.

Objective: Bronchopulmonary dysplasia is a chronic respiratory disease that still affects preterm neonates; its association with neurodevelopmental (ND) impairment is already known. Different studies investigated neurodevelopmental outcomes in infants with BPD, often using the old dichotomous definition (BPD vs Non-BPD). This retrospective study aims to evaluate the role of different BPD severity grades on ND outcomes at 24 months of corrected age (CA).

Methods: All preterm infants born between 2011 and 2015 in the study hospital with a gestational age (GA) ≤ 30 weeks and discharged from our NICU were included and were divided in infants with and without BPD. Infants with BPD were divided into three severity groups as defined by NICHD/NHLBI Workshop in 2001, and were compared to their Non-BPD peers, matching them according to the same GA and year of birth. At 24 months postmenstrual age, we assessed general outcomes (growth and hospital readmissions) and neurodevelopmental outcomes (motor, developmental and sensory outcomes) with a standardized assessment.

Results: We enrolled 89 patients affected by BPD of different grades of severity and a control group of 89 preterm infants without BPD. Infants with Moderate and Severe BPD showed a significantly higher corrected odds ratio (OR) for cognitive impairment compared to controls. Within the group of infants without severe disability (regarding Griffiths' scales), infants with Moderate and Severe BPD as well as infants with Mild BPD showed a significantly higher risk of a lower total Developmental Quotient (DQ) score, even after correction for confounding factors.

Conclusions: Our study evidenced that not only Severe BPD infants, but also Moderate ones showed a higher risk of overall cognitive impairment at 24 months CA. Within the group of infants without severe disability, also those with Mild BPD had lower Griffiths DQ scores than those without. This would suggest that infants with BPD, regardless of severity, warrant neurodevelopmental follow-up.
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http://dx.doi.org/10.1016/j.earlhumdev.2020.105275DOI Listing
January 2021

Early neurologic assessment in preterm-infants: integration of traditional neurologic examination and observation of general movements.

Eur J Paediatr Neurol 2008 May 18;12(3):183-9. Epub 2007 Sep 18.

Division of Child Neurology and Psychiatry, Department of Paediatrics, University of Catania, Italy.

Objective: To evaluate the possible additional benefit in terms of prognostic accuracy of an integrated application of a traditional scorable method of neurologic examination and the Prechtl's method of qualitative assessment of general movements (GMs) in a large population of 903 consecutive preterm infants.

Study Design: Infants were enrolled from the Intensive Care Unit of the University of Catania. Inclusion criteria were a gestational age below 37 weeks and the absence of genetic disorders. All infants underwent serial ultrasound and at 3 months performed both the GMs assessment and the Hammersmith Infant Neurologic Examination (HINE). Outcome was assessed at 2 years by the Touwen neurologic examination and the Clinical Adaptive Test/Clinical, Linguistic and Auditory Milestone Scale.

Results: The integration of the two methods was shown to be more effective than the single assessments in predicting neurologic outcome. The additional benefit of combining the two approaches was particularly clear for the discrimination between unilateral and bilateral cerebral palsy.

Conclusions: The integrated use of a scorable neurological examination and Prechtl's assessment of GMs can improve early prediction of neurodevelopmental outcome in preterm infants and should complement other clinical and instrumental exams in follow-up programs.
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http://dx.doi.org/10.1016/j.ejpn.2007.07.008DOI Listing
May 2008
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