Article
Genetics & Heredity
Linda M. Reis, Sarah Seese, Mohit Maheshwari, Donald Basel, LuAnn Weik, Julie McCarrier, Elena Semina
Summary: Septo-optic dysplasia (SOD) is a developmental disorder characterized by midline neuroradiological anomalies, optic nerve hypoplasia, and pituitary anomalies. Most cases lack a genetic diagnosis, but certain transcription factor mutations have been associated with SOD. Exome sequencing identified genetic diagnoses in 3/6 families with SOD, and explored uncertain variants in the remaining families.
Review
Radiology, Nuclear Medicine & Medical Imaging
D. J. Ward, D. J. A. Connolly, P. D. Griffiths
Summary: The study reported a high rate of associated brain abnormalities in children with septo-optic dysplasia (SOD), including structural pituitary abnormalities and cortical formation abnormalities. This suggests that SOD may not have a single cause, but rather result from multiple etiological events.
CLINICAL RADIOLOGY
(2021)
Review
Genetics & Heredity
Amy Mann, Arameh Aghababaie, Jennifer Kalitsi, Daniel Martins, Yannis Paloyelis, Ritika R. Kapoor
Summary: This systematic review suggests that the prevalence of neurodevelopmental impairments in children within the SOD spectrum may be high. Clinicians should therefore consider including formal assessments of ASD symptoms and neurodevelopmental impairments alongside routine care. There is, additionally, a need for further research to define and validate a standardised battery of tools that accurately identify neurodevelopmental impairments in SOD spectrum conditions, and for research to identify the likely causal mechanisms.
Article
Clinical Neurology
Michael S. Salman, Chelsea A. Ruth, Marina S. Yogendran, Katya Rozovsky, Lisa M. Lix
Summary: This study aimed to identify the risk factors for optic nerve hypoplasia (ONH) and septo-optic dysplasia (SOD). It found that maternal age at conception, primigravida, and smoking were independently associated with ONH and SOD. The study also concluded that smoking during pregnancy is the main modifiable risk factor for ONH and SOD.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Article
Endocrinology & Metabolism
Chariklia Pieridou, Ataf Sabir, Jonathan Lancashire, Yifan Liang, Kevin Mcmillan, Nick Shaw, Suma Uday
Summary: This case report presents two male siblings with osteosclerotic metaphyseal dysplasia (OSMD), who have a novel LRRK1 variant. The patients showed typical changes of OSMD in their skeletal survey, including widespread diffuse sclerosis and osteosclerosis of the cranium.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Ophthalmology
Katharina Eibenberger, Sandra Rezar-Dreindl, Jakob Briem, Ursula Schmidt-Erfurth, Eva Stifter
Summary: This study evaluated the functional development and morphological changes in the retina and optic disc using OCT in patients with SOD. The results showed that patients with SOD exhibited varying degrees of retinal thinning, but their visual function remained stable during the follow-up period.
EUROPEAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Clinical Neurology
Michael S. Salman, Shakhawat Hossain, Katya Rozovsky
Summary: This study investigated the prevalence of abnormal neuroimaging features in patients with ONH and SOD in Manitoba, Canada, and compared them with previous studies. Most patients showed ONH and a small optic chiasm size on neuroimaging. Absent septum pellucidum was noted in 40% of patients, and small pituitary gland size was present in 28% of patients, while 20% had neuronal migration disorders.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
(2023)
Article
Ophthalmology
Brandon Kingrey, Chanika Phornphutkul, Wendy Chen
Summary: This case demonstrates the clinical overlap of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome with septo-optic dysplasia and highlights the importance of genetic testing for correct diagnosis.
Article
Acoustics
E. Di Pasquo, M. Kuleva, C. Arthuis, G. Morganelli, F. Ormitti, A-E Millischer, D. Grevent, Y. Ville, T. Ghi, L. J. Salomon
Summary: In children with a prenatal diagnosis of apparently isolated agenesis of the septum pellucidum (ASP), the majority have a favorable postnatal outcome. However, approximately 14% of cases have additional anomalies detected after birth, which negatively impact clinical outcomes. Detailed antenatal assessment of the brain and optic pathways is important to identify associated anomalies.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2022)
Editorial Material
Clinical Neurology
Omar Solyman, Mohammed Attya, Abdelrahman Mahmoud Elhusseiny
Summary: A 3-month-old boy was diagnosed with bilateral extreme microphthalmia, replacement of the optic nerves by disorganised rudimentary tissue tufts, hypoplastic orbits and extraocular muscles, an absent septum pellucidum, and an absent corpus callosum. Timely treatment is essential to prevent Addisonian crisis from the stress and pain that may accompany insertion of socket expanders.
NEURO-OPHTHALMOLOGY
(2021)
Article
Genetics & Heredity
Richard Sather, Dorothy Thompson, Jacqueline Ihinger, Sandra R. Montezuma
Summary: This case report describes a patient with SOD who presented with visual impairment, nystagmus, and ocular abnormalities. With the help of imaging, fundus examination, and genetic testing, a diagnosis of SOD was confirmed with a possible association with OCA. This case highlights the importance of considering additional factors in the diagnosis and management of SOD.
OPHTHALMIC GENETICS
(2022)
Article
Neurosciences
Zhijun Diao, Li Yao, Qiangqiang Cheng, Meilin Wu, Yuanyuan Di, Zhaoqiang Qian, Chunling Wei, Yingxun Liu, Yingfang Tian, Wei Ren
Summary: The study investigated bidirectional changes in substantia nigra pars compacta (SNc) dopamine neuron activity and the modulatory effects of dopamine on both the direct and indirect pathways during negative reinforcement learning.
MOLECULAR NEUROBIOLOGY
(2021)
Article
Genetics & Heredity
Gabriella Gazdagh, Rebecca Mawby, Jay E. Self, Diana Baralle
Summary: BBSOAS is a rare congenital syndrome with pathogenic variants in the NR2F1 gene linked to this condition. This study reports a severe case with an initiation codon missense variant, describing symptoms consistent with BBSOAS but also identifying colobomas and septo-optic dysplasia as potentially extending the phenotype linked to this condition.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Medicine, General & Internal
Oluwatosin O. Oyadiran, Naxdaris Gonzalez, Ahmad Khiami
Summary: Untreated and rapid correction of neonatal hypematremia can lead to severe neurological complications. In this case study, a six-week-old female presenting with failure to thrive was diagnosed with central diabetes insipidus. The patient responded well to treatment and was eventually diagnosed with septo-optic dysplasia.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2021)
Article
Clinical Neurology
Elizabeth E. S. Pickup, Sarah D. Schlatterer, Adre J. du Plessis, Sarah B. Mulkey
Summary: This study aimed to determine the confirmation rate of prenatally diagnosed isolated absent septum pellucidum (ASP) in postnatal imaging and examine clinical outcomes for ASP. The results showed that few children with prenatally diagnosed isolated ASP were diagnosed with septo-optic dysplasia (SOD) postnatally, and they had better outcomes compared to children with complex ASP.
PEDIATRIC NEUROLOGY
(2022)
Article
Clinical Neurology
Carlotta Rivella, Alice Zanetti, Marta Bertamino, Mariasavina Severino, Ludovica Primavera, Sara Signa, Paolo Moretti, Paola Viterbori
Summary: This study investigated the executive function (EF) of children with a history of arterial ischemic stroke (AIS) and preserved intellectual abilities. The study found that even those with preserved intellectual functioning have a high risk of showing poor EF, mostly regardless of clinical features or functional impairment. EF difficulties are in turn associated with emotional and behavioral problems. Therefore, a standardized evaluation of EF is mandatory in order to ensure early intervention and prevent related difficulties.
CHILD NEUROPSYCHOLOGY
(2023)
Article
Clinical Neurology
Ana Filipa Geraldo, Cesar Augusto P. F. Alves, Aysha Luis, Domenico Tortora, Joana Guimaraes, Daisy Abreu, Sofia Reimao, Marco Pavanello, Patrizia de Marco, Marcello Scala, Valeria Capra, Rui Vaz, Andrea Rossi, Erin Simon Schwartz, Kshitij Mankad, Mariasavina Severino
Summary: This study investigates the neuroimaging findings and longitudinal evaluation of familial cerebral cavernous malformations (FCCM) in children. It reveals that the incidence and risk factors of symptomatic hemorrhage in children with FCCM are comparable to those in adults. Imaging features at the first brain MRI may help predict future symptomatic hemorrhage.
Review
Pediatrics
Andrea Rossi, Maria Argyropoulou, Dora Zlatareva, Gregoire Boulouis, Francesca B. Pizzini, Luc van den Hauwe, Maria Raissaki, Jean-Pierre Pruvo, Karen Rosendahl, Chen Hoffmann, Pia C. Sundgren
Summary: This article discusses the importance of pediatric neuroradiology and the lack of standardized training programs in European countries. It provides recommendations and guidance for the safe practice of pediatric neuroradiology, including imaging techniques, facility requirements, and team requirements.
PEDIATRIC RADIOLOGY
(2023)
Review
Pediatrics
Clara Adriana Maria de Bruijn, Stefano Di Michele, Maria Luisa Tataranno, Luca Antonio Ramenghi, Andrea Rossi, Mariya Malova, Manon Benders, Agnes van den Hoogen, Jeroen Dudink
Summary: This study evaluated the influence of punctate white matter lesions (PWML) on long-term neurodevelopmental outcomes in preterm infants. The findings showed a correlation between PWML and motor delay, as well as between PWML and cognitive and behavioral outcomes. The severity and types of impairments were found to be related to the number and location of PWML.
PEDIATRIC RESEARCH
(2023)
Article
Clinical Neurology
A. Biswas, C. McNamara, V. K. Gowda, F. Gala, S. Sudhakar, J. Sidpra, M. S. Vari, P. Striano, S. Blaser, M. Severino, S. Batzios, K. Mankad
Summary: Biotinidase deficiency is an autosomal recessive condition caused by pathogenic variants in the BTD gene, resulting in a lack of free biotin and impaired carboxylase enzyme activity, leading to neurological, dermatological, and ocular symptoms. Early recognition and supplementation of biotin are crucial, especially in countries without routine neonatal screening for this deficiency. This report presents the MR imaging patterns of this treatable metabolic disorder in 14 patients from multiple centers, which can aid in early diagnosis in the appropriate clinical context.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2023)
Article
Computer Science, Interdisciplinary Applications
Rosella Tro, Monica Roascio, Gabriele Arnulfo, Domenico Tortora, Mariasavina Severino, Andrea Rossi, Antonio Napolitano, Marco M. Fato
Summary: Choosing the most appropriate denoising method is crucial for improving the quality of diagnostic images in the pre-processing of diffusion MRI images. This study compared two adaptive techniques, Patch2Self and Nlsam, and found that Patch2Self framework is specifically suitable for DKI data, demonstrating better performance at 7T.
COMPUTER METHODS AND PROGRAMS IN BIOMEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Gianluca D'Onofrio, Marcello Scala, Mariasavina Severino, Roberta Roberti, Ferruccio Romano, Patrizia De Marco, Michele Iacomino, Simona Baldassari, Paolo Uva, Marco Pavanello, Stefano Gustincich, Pasquale Striano, Federico Zara, Valeria Capra
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Review
Acoustics
Nevena Fileva, Mariasavina Severino, Domenico Tortora, Antonia Ramaglia, Dario Paladini, Andrea Rossi
Summary: Fetal MRI is a crucial tool for diagnosing brain malformations during prenatal stages, especially when ultrasound indicates a potential abnormality. Despite the immature state of the fetal brain, early signs of brain malformations can still be recognized. Differentiating between normal brain growth and pathological conditions can be challenging and requires extensive knowledge of the central nervous system's development and corresponding neuroradiological stages. This article provides a review of common second-trimester brain malformations, focusing on helpful tips and subtle signs to aid in the diagnosis of conditions such as rhombencephalosynapsis, vermian rotation, molar tooth spectrum anomalies, diencephalic-mesencephalic junction dysplasia, ganglionic eminence anomalies, and common malformations of cortical development.
JOURNAL OF CLINICAL ULTRASOUND
(2023)
Article
Endocrinology & Metabolism
A. La Valle, G. d'Annunzio, C. Campanello, G. Tantari, A. Pistorio, F. Napoli, G. Patti, M. Crocco, M. Bassi, N. Minuto, G. Piccolo, M. Maghnie
Summary: This study aimed to analyze and correlate fasting insulin-resistance markers with OGTT results in overweight/obese children and adolescents. The results showed that a 1-hour glucose level > 155 mg/dl and insulin sum > 535 microU/ml were the best predictors of diabetes risk in obese youths.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Endocrinology & Metabolism
M. Maghnie, M. Orso, B. Polistena, M. Cappa, G. Pozzobon, D. d'Angela, G. Patti, F. Spandonaro, S. Granato, R. Di Virgilio, D. La Torre, M. Salerno
Summary: The aim of this study was to assess the quality of life among Italian growth hormone deficiency (GHD) children and adolescents treated with growth hormone (GH) and their parents. The survey included 142 GHD children/adolescents and their parents, and the results showed that the overall health-related quality of life in treated GHD patients is high, comparable to that of healthy individuals.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Correction
Endocrinology & Metabolism
Giuseppa Patti, Federica Malerba, Maria Grazia Calevo, Maurizio Schiavone, Marco Scaglione, Emilio Casalini, Silvia Russo, Daniela Fava, Marta Bassi, Flavia Napoli, Anna Elsa Maria Allegri, Giuseppe D'Annunzio, Roberto Gastaldi, Mohamad Maghnie, Natascia Di Iorgi
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Pediatrics
Mohamad Maghnie, Paolo Bruzzi, Giorgio Casilli, Dario Lidonnici, Gioacchino Scarano
Summary: Through two Delphi panel discussions, Italian experts have identified the best practices and unmet needs in the management of patients with achondroplasia. The results emphasize the importance of standardized procedures to identify reference centers, the involvement of multidisciplinary teams, and effective communication among centers. Key points for diagnosis include genetic counseling, the presence of a psychologist, and clear communication during prenatal diagnosis, while major points for patient management involve early intervention, personalized care, and promoting a healthy lifestyle.
FRONTIERS IN PEDIATRICS
(2023)
Article
Endocrinology & Metabolism
M. F. Bedeschi, S. Mora, F. Antoniazzi, S. Boero, R. Ravasio, G. Scarano, A. Selicorni, M. Sessa, F. Verdoni, G. Zampino, M. Maghnie
Summary: This study aimed to assess the real-world management of achondroplasia in Italy. Two online surveys were conducted to collect perspectives from parents/caregivers and clinicians. The surveys revealed that diagnosis of achondroplasia was commonly made in the third trimester of gestation and confirmed through genetic testing. Complications such as otitis, sleep apnoea, and hearing difficulties had the greatest impact on children between the ages of 2-5 years. Limb lengthening surgery was recommended to most parents/caregivers and viewed favorably by clinicians for improving patient quality of life and addressing various physical challenges.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Genetics & Heredity
A. Grossi, M. Rusmini, R. Cusano, M. Massidda, G. Santamaria, F. Napoli, A. Angelelli, D. Fava, P. Uva, I. Ceccherini, M. Maghnie
Summary: ROHHAD is a rare pediatric disorder with unknown etiology, making diagnosis challenging. By analyzing non-coding variants in two trios, no potentially pathogenic changes were found. Third-generation sequencing and exploration of pathways associated with immunological and autoimmune disorders are needed for further investigation.
FRONTIERS IN GENETICS
(2023)