Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder by Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, Toshiyuki Yamamoto

“…Although the patient exhibited severe neurodevelopmental delay, other clinical features of ODDD, including limb anomalies, were mild. …”
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Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations by Mehmet Gunduz, Ozlem Unal

“…Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems. …”
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Sagittal Craniosynostosis with Uncommon Anatomical Pathologies in a 56-Year-Old Male Cadaver by Andrey Frolov, Craig Lawson, Joshua Olatunde, James T. Goodrich, John R. Martin III

“…Sagittal craniosynostosis (CS) is a pathologic condition that results in premature fusion of the sagittal suture, restricting the transverse growth of the skull leading in some cases to elevated intracranial pressure and neurodevelopmental delay. There is still much to be learned about the etiology of CS. …”
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Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration by Yuki Kawashima-Sonoyama, Keisuke Wada, Kei Yamamoto, Masanobu Fujimoto, Noriyuki Namba, Takeshi Taketani

“…Cases with deletions showed a more severe degree of growth impairment (–4.5 ± 0.43 SD) than those caused by pathological variants (–2.71 ± 0.15 SD) and were accompanied by neurodevelopmental delay. However, cases caused by pathological variants lacked distinctive features. …”
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The long-term outcome of children with VP shunt and hydrocephalus: motor developmental outcome and QOL of patients with hydrocephalus is associated with the number of revisional pr... by Danielle S. Wendling-Keim, Hannah Luz, Elena Kren, Oliver Muensterer, Markus Lehner

“…PurposeDespite constant advances in ventriculo-peritoneal shunt systems, pediatric patients with hydrocephalus may present with neurodevelopmental delay. Therefore, we performed a study including a questionnaire, which aimed to analyze parameters that may have an impact on the cognitive function and quality of life of the pediatric patient with hydrocephalus.MethodsIn this retrospective study, we included 81 patients aged 0–17 with hydrocephalus who were treated with a ventriculo-peritoneal shunt at a single institution. …”
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Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start by Marta Arrigoni, Nitash Zwaveling-Soonawala, Stephen H LaFranchi, A S Paul van Trotsenburg, Christiaan F Mooij

“…Background: Congenital hypothyroidism (CH) is a preventable cause of neurodevelopmental delay in children, detectable by newborn screening (NBS) programs for CH. …”
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A guide to selecting high-performing antibodies for Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (PPP2R5D) for use in Western Blot, immunoprecipi... by Carl Laflamme, Kathleen Southern, Riham Ayoubi, Maryam Fotouhi, Charles Alende

“…Pathogenic mutations in the PPP2R5D gene are linked to clinical symptoms characterized by neurodevelopmental delay, intellectual disability, and autism spectrum disorders. …”
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Cerebral Microhemorrhages in Children With Congenital Heart Disease: Prevalence, Risk Factors, and Association With Neurodevelopmental Outcomes by Kristen N. Andersen, Sicong Yao, Brian R. White, Marin Jacobwitz, Jake Breimann, Jharna Jahnavi, Alexander Schmidt, Wesley B. Baker, Tiffany S. Ko, J. William Gaynor, Arastoo Vossough, Rui Xiao, Daniel J. Licht, Evelyn K. Shih

“…Background Infants with congenital heart disease require early lifesaving heart surgery, which increases risk for brain injury and neurodevelopmental delay. Cerebral microhemorrhages (CMH) are frequently seen after surgery, but whether they are benign or constitute injury is unknown. …”
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Contextual Vulnerability Should Guide Fair Subject Selection in Xenotransplantation Clinical Trials by Gianna Strand

“…., et al., “Use of Neurodevelopmental Delay in Pediatric Solid Organ Transplant Listing Decisions: Inconsistencies in Standards Across Major Pediatric Transplant Centers,” Pediatric Transplant 13, no. 7 (2009): 843-50. …”
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The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities by Ghazaleh Ghorbannezhad, Reza Nejad Shahrokh Abadi, Farrokh Seilanian Toosi, Shima Shekari, Saeedeh Sadat Mirtooni, Narges Hashemi

“…JS has various phenotypic features, such as neurodevelopmental delays and congenital heart defects. Furthermore, deletion mutations in the long arm of chromosome 11 can also give rise to Megalocephalic Leukoencephalopathy (MLC), affecting the HEPCAM gene. …”
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Heavy metal and metalloid pollution: A systematic review of health implications for pregnant women, children, and geriatrics in the East African region by Godswill J. Udom, Brian Turyahabwe, Ayodeji Aturamu, Omoirri M. Aziakpono, Richard D. Agbana, Omole G. Joseph, Nita-wills G. Udom, Nuru Mugide, Omali P. Odey, Haron Olot, Orish E. Orisakwe

“…In children, neurodevelopmental delays, reduced cognitive function, and growth impairments are prominent outcomes. …”
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