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https://read.qxmd.com/read/30786142/exploring-the-behavioral-and-cognitive-phenotype-of-kbg-syndrome
#1
Linde C M van Dongen, Ellen Wingbermühle, William M van der Veld, Karlijn Vermeulen, Anja G Bos-Roubos, Charlotte W Ockeloen, Tjitske Kleefstra, Jos I M Egger
KBG syndrome is a neurodevelopmental disorder, caused by dominant mutations in ANKRD11, that is characterized by developmental delay/intellectual disability, mild craniofacial dysmorphisms, and short stature. Behavior and cognition have hardly been studied, but anecdotal evidence suggests higher frequencies of ADHD-symptoms and social-emotional impairments. In this study, behavioral and cognitive profile of KBG syndrome will be investigated in order to examine if and how cognitive deficits contribute to behavioral difficulties...
February 20, 2019: Genes, Brain, and Behavior
https://read.qxmd.com/read/30784761/exploratory-behavior-and-developmental-skill-acquisition-in-infants-with-down-syndrome
#2
Deborah J Fidler, Emily Schworer, Mark A Prince, Elizabeth A Will, Amy W Needham, Lisa A Daunhauer
Infants learn about objects by exploring them. Typically developing infants actively explore objects through visual, manual, and oral modalities. Attenuated exploratory behavior has been observed in various neurodevelopmental disorders, including Down syndrome (DS), presumably limiting learning options. However, a direct link between exploration and overall developmental functioning has not been characterized. This study used a Latent Profile Analysis framework to examine within-syndrome variability in exploratory behavior in infants with DS and the developmental correlates of different exploratory behavior profiles...
February 18, 2019: Infant Behavior & Development
https://read.qxmd.com/read/30778173/de-novo-variants-in-hk1-associated-with-neurodevelopmental-abnormalities-and-visual-impairment
#3
Volkan Okur, Megan T Cho, Richard van Wijk, Brigitte van Oirschot, Jonathan Picker, Stephanie A Coury, Dorothy Grange, Linda Manwaring, Ian Krantz, Colleen Clark Muraresku, Peter J Hulick, Holley May, Eric Pierce, Emily Place, Kinga Bujakowska, Aida Telegrafi, Ganka Douglas, Kristin G Monaghan, Amber Begtrup, Ashley Wilson, Kyle Retterer, Kwame Anyane-Yeboa, Wendy K Chung
Hexokinase 1 (HK1) phosphorylates glucose to glucose-6-phosphate, the first rate-limiting step in glycolysis. Homozygous and heterozygous variants in HK1 have been shown to cause autosomal recessive non-spherocytic hemolytic anemia, autosomal recessive Russe type hereditary motor and sensory neuropathy, and autosomal dominant retinitis pigmentosa (adRP). We report seven patients from six unrelated families with a neurodevelopmental disorder associated with developmental delay, intellectual disability, structural brain abnormality, and visual impairments in whom we identified four novel, de novo missense variants in the N-terminal half of HK1...
February 18, 2019: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/30777126/early-progression-of-krabbe-disease-in-patients-with-symptom-onset-between-0-and-5-months
#4
Maria L Beltran-Quintero, Nicholas A Bascou, Michele D Poe, David A Wenger, Carlos A Saavedra-Matiz, Matthew J Nichols, Maria L Escolar
BACKGROUND: Krabbe disease is a rare neurological disorder caused by a deficiency in the lysosomal enzyme, β-galactocerebrosidase, resulting in demyelination of the central and peripheral nervous systems. If left without treatment, Krabbe disease results in progressive neurodegeneration with reduced quality of life and early death. The purpose of this prospective study was to describe the natural progression of early onset Krabbe disease in a large cohort of patients. METHODS: Patients with early onset Krabbe disease were prospectively evaluated between 1999 and 2018...
February 18, 2019: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/30775047/a-novel-de-novo-frameshift-mutation-in-kat6a-identified-by-whole-exome-sequencing
#5
Asem Alkhateeb, Wafa Alazaizeh
Intellectual disability is a common condition with multiple etiologies. The number of monogenic causes has increased steadily in recent years due to the implementation of next generation sequencing. Here, we describe a 2-year-old boy with global developmental delay and intellectual disability. The child had feeding difficulties since birth. He had delayed motor skills and muscular hypotonia. Brain magnetic resonance imaging revealed diffuse white matter loss and thinning of the corpus callosum. Banded karyotype and comparative genomic hybridization (CGH) array were normal...
March 2019: Journal of Pediatric Genetics
https://read.qxmd.com/read/30768401/reading-acquisition-in-children-developmental-processes-and-dyslexia-specific-effects
#6
Katarzyna Chyl, Agnieszka Dębska, Magdalena Łuniewska, Artur Marchewka, Bartosz Kossowski, Kenneth R Pugh, Katarzyna Jednoróg
OBJECTIVE: Reduced activation to print in the left ventral, dorsal and anterior pathways has been implicated in readers with dyslexia (DR) but is also characteristic for typical beginning readers. As the majority of studies compared DR to their age-matched peers, the observed results could either represent a dyslexia phenotype or a developmental delay. We aimed to disentangle reading and dyslexia effects by employing two control groups: age and skill matched, and a longitudinal design...
December 6, 2018: Journal of the American Academy of Child and Adolescent Psychiatry
https://read.qxmd.com/read/30755602/biallelic-mutations-in-valyl-trna-synthetase-gene-vars-are-associated-with-a-progressive-neurodevelopmental-epileptic-encephalopathy
#7
Jennifer Friedman, Desiree E Smith, Mahmoud Y Issa, Valentina Stanley, Rengang Wang, Marisa I Mendes, Meredith S Wright, Kristen Wigby, Amber Hildreth, John R Crawford, Alanna E Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T Tran, Tarek E I Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F Kingsmore, Gajja S Salomons, Maha S Zaki, Geneviève Bernard, Joseph G Gleeson
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases. VARS encodes the only known valine cytoplasmic-localized aminoacyl-tRNA synthetase. Here, we report seven patients from five unrelated families with five different biallelic missense variants in VARS. Subjects present with a range of global developmental delay, epileptic encephalopathy and primary or progressive microcephaly...
February 12, 2019: Nature Communications
https://read.qxmd.com/read/30745561/neurodevelopmental-and-behavioral-consequences-of-perinatal-exposure-to-the-hiv-drug-efavirenz-in-a-rodent-model
#8
Lisa Van de Wijer, Lidiane P Garcia, Sabrina I Hanswijk, Juliette Rando, Anthonieke Middelman, Rob Ter Heine, Quirijn de Mast, Gerard J M Martens, André J A M van der Ven, Sharon M Kolk, Arnt F A Schellekens, Judith R Homberg
Efavirenz is recommended as a preferred first-line drug for women of childbearing potential living with human immunodeficiency virus. Efavirenz is known for its central nervous system side effects, which are partly mediated by serotonergic actions. The neurotransmitter serotonin exerts neurotrophic effects during neurodevelopment and antenatal exposure to serotonergic agents has been linked to developmental delay. Although the teratogenic risks of efavirenz appear to be minimal, data on long-term developmental effects remain scarce...
February 11, 2019: Translational Psychiatry
https://read.qxmd.com/read/30743197/combined-predictors-of-neurodevelopment-in-very-low-birth-weight-preterm-infants
#9
Pilar Medina-Alva, Kevin R Duque, Alonso Zea-Vera, Sicilia Bellomo, César Cárcamo, Daniel Guillen-Pinto, Maria Rivas, Alfredo Tori, Jaime Zegarra, Luis Cam, Anne Castañeda, Aasith Villavicencio, Theresa J Ochoa
OBJECTIVE: To evaluate the combined prognostic value of neurological examination, head circumference and cranial ultrasound for neurodevelopmental delay (NDD) in very low birth weight (VLBW, <1500 g) preterm infants. METHODS: Prospective follow-up study. Preterm infants with VLWB were assessed for NDD using the Mullen Scales of Early Learning test at 24 months of corrected age. Abnormal neurological examination (≥2 deviant items of Hammersmith neurological examination), microcephaly and major ultrasound abnormalities, each performed at term age, were evaluated as predictors of NDD in a multivariable Poisson model...
February 8, 2019: Early Human Development
https://read.qxmd.com/read/30741678/auditory-brainstem-dysfunction-non-invasive-biomarkers-for-early-diagnosis-and-monitoring-of-alzheimer-s-disease-in-young-urban-residents-exposed-to-air-pollution
#10
Yusra Mansour, Kaitlyn Blackburn, Luis Oscar González-González, Lilian Calderón-Garcidueñas, Randy J Kulesza
Alzheimer's disease (AD) is a biological construct defined by abnormal deposits of hyperphosphorylated tau and amyloid-β. The 2050 projection for AD in the USA is 14 million. There is a strong association between AD, air pollution, and traffic. Early diagnosis is imperative for intervention in the initial disease stages. Hearing and, specifically, the ability to encode complex sounds are impaired in AD. Nuclei in the auditory brainstem appear to be sensitive to neurodevelopmental and neurodegenerative disorders...
February 2, 2019: Journal of Alzheimer's Disease: JAD
https://read.qxmd.com/read/30740596/early-childhood-outcomes-after-neonatal-encephalopathy-in-uganda-a-cohort-study
#11
Cally J Tann, Emily L Webb, Rachel Lassman, Julius Ssekyewa, Margaret Sewegaba, Margaret Musoke, Kathy Burgoine, Cornelia Hagmann, Eleanor Deane-Bowers, Kerstin Norman, Jack Milln, Jennifer J Kurinczuk, Alison M Elliott, Miriam Martinez-Biarge, Margaret Nakakeeto, Nicola J Robertson, Frances M Cowan
Background: Neonatal encephalopathy (NE) is a leading cause of global child mortality. Survivor outcomes in low-resource settings are poorly described. We present early childhood outcomes after NE in Uganda. Methods: We conducted a prospective cohort study of term-born infants with NE (n = 210) and a comparison group of term non-encephalopathic (non-NE) infants (n = 409), assessing neurodevelopmental impairment (NDI) and growth at 27-30 months. Relationships between early clinical parameters and later outcomes were summarised using risk ratios (RR)...
December 2018: EClinicalMedicine
https://read.qxmd.com/read/30739909/variants-in-tcf20-in-neurodevelopmental-disability-description-of-27-new-patients-and-review-of-literature
#12
Erin Torti, Boris Keren, Elizabeth E Palmer, Zehua Zhu, Alexandra Afenjar, Ilse J Anderson, Marisa V Andrews, Celia Atkinson, Margaret Au, Susan A Berry, Kevin M Bowling, Jackie Boyle, Julien Buratti, Sara S Cathey, Perrine Charles, Benjamin Cogne, Thomas Courtin, Luis F Escobar, Sabra Ledare Finley, John M Graham, Dorothy K Grange, Delphine Heron, Stacy Hewson, Susan M Hiatt, Kathleen A Hibbs, Parul Jayakar, Louisa Kalsner, Lise Larcher, Gaetan Lesca, Paul R Mark, Kathryn Miller, Caroline Nava, Mathilde Nizon, G Shashidhar Pai, John Pappas, Gretchen Parsons, Katelyn Payne, Audrey Putoux, Rachel Rabin, Isabelle Sabatier, Marwan Shinawi, Natasha Shur, Steven A Skinner, Stephanie Valence, Hannah Warren, Sandra Whalen, Amy Crunk, Ganka Douglas, Kristin G Monaghan, Richard E Person, Rebecca Willaert, Benjamin D Solomon, Jane Juusola
PURPOSE: To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients. METHODS: Patients were ascertained through molecular testing laboratories performing exome sequencing (and other testing) with orthogonal confirmation; collaborating referring clinicians provided detailed clinical information. RESULTS: The cohort of 27 patients all had novel variants, and ranged in age from 2 to 68 years...
February 11, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30739252/severe-uncontrolled-maternal-hyperglycemia-induces-microsomia-and-neurodevelopment-delay-accompanied-by-apoptosis-cellular-survival-and-neuroinflammatory-deregulation-in-rat-offspring-hippocampus
#13
Francele Valente Piazza, Ethiane Segabinazi, André Luís Ferreira de Meireles, Filipe Mega, Christiano de Figueiredo Spindler, Otávio Américo Augustin, Gabriela Dos Santos Salvalaggio, Matilde Achaval, Maria Sol Kruse, Héctor Coirini, Simone Marcuzzo
Maternal diabetes constitutes an unfavorable intrauterine environment for offspring development. Although it is known that diabetes can cause brain alterations and increased risk for neurologic disorders, the relationship between neuroimmune activation, brain changes, and neurodevelopment deficits in the offspring remains unclear. In order to elucidate the short- and long-term biological basis of the developmental outcomes caused by the severe uncontrolled maternal hyperglycemia, we studied apoptosis, neurogenesis, and neuroinflammation pathways in the hippocampus of neonates and young rats born to diabetic dams...
February 9, 2019: Cellular and Molecular Neurobiology
https://read.qxmd.com/read/30737907/xq22-3q23-microdeletion-harboring-tmem164-and-ammecr1-genes-two-case-reports-confirming-a-recognizable-phenotype-with-short-stature-midface-hypoplasia-intellectual-delay-and-elliptocytosis
#14
Brice Poreau, Francis Ramond, Radu Harbuz, Véronique Satre, Claire Barro, Claire Vettier, Véronique Adouard, Julien Thevenon, Pierre-Simon Jouk, Charles Coutton, Renaud Touraine, Klaus Dieterich
The AMME syndrome defined as the combination of Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis (AMME) is known to be a contiguous gene syndrome associated with microdeletions in the region Xq22.3q23. Recently, using exome sequencing, missense pathogenic variants in AMMECR1 have been associated with intellectual disability, midface hypoplasia, and elliptocytosis. In these cases, AMMECR1 gene appears to be responsible for most of the clinical features of the AMME syndrome except for Alport syndrome...
February 8, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30736970/asperger-s-syndrome-what-to-consider
#15
B Mirkovic, P Gérardin
Asperger's syndrome is a neurodevelopmental disorder which is part of the large family of autism spectrum disorders. People with Asperger's syndrome have difficulties in social interactions, verbal and non-verbal communication, and may display behavioural oddities, with stereotypies and limited interests. They show no language delay and their cognitive development is not marked by an overall delay but by specific impairments in certain areas such as the executive functions. The clinical presentations are very heterogeneous, varying according to age and psychiatric comorbidities...
February 5, 2019: L'Encéphale
https://read.qxmd.com/read/30720481/understanding-the-pathophysiology-implications-and-treatment-options-of-patent-ductus-arteriosus-in-the-neonatal-population
#16
Cristin Conrad, Desi Newberry
BACKGROUND: Patent ductus arteriosus (PDA) is the persistence of a fetal shunt between the pulmonary artery and the aorta. This structure normally closes in the first 3 days after birth; however, closure is delayed in up to 80% of infants born at 25 to 28 weeks of gestation. Persistent PDA results in pulmonary overcirculation and systemic hypoperfusion. PURPOSE: The purpose of this article is to review pathophysiology and treatment options for PDA. METHODS: A literature review was conducted using PubMed, CINAHL, and Google Scholar (2013-2018)...
January 31, 2019: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://read.qxmd.com/read/30720238/the-challenges-in-managing-perioperative-hypoglycemia-in-a-child-on-modified-atkins-diet
#17
WenJie Mak, Kelvin Xu, Sophie W Y Lim, H I Hee
Our patient is a 5-year-old boy with West syndrome, complicated by neurodevelopmental delays, scheduled for elective gastrostomy. He was started on MAD 6 months prior to surgery. His oral anti-epileptics were converted to intravenous equivalents during fasting. Non-dextrose containing solution was used as maintenance fluid. Blood glucose was monitored 4-hourly when fasting commenced 6h before surgery. His serial blood glucose is summarized in Table 1. This article is protected by copyright. All rights reserved...
February 5, 2019: Paediatric Anaesthesia
https://read.qxmd.com/read/30715177/biallelic-kars-pathogenic-variants-cause-an-early-onset-progressive-leukodystrophy
#18
Masayuki Itoh, Hongmei Dai, Shin-Ichi Horike, John Gonzalez, Yoshikazu Kitami, Makiko Meguro-Horike, Ichiro Kuki, Shuichi Shimakawa, Harumi Yoshinaga, Yoko Ota, Tetsuya Okazaki, Yoshihiro Maegaki, Shin Nabatame, Shin Okazaki, Hisashi Kawawaki, Naoto Ueno, Yu-Ichi Goto, Yoichi Kato
The leukodystrophies cause severe neurodevelopmental defects from birth and follow an incurable and progressive course that often leads to premature death. It has recently been reported that abnormalities in aminoacyl t-RNA synthetase (ARS) genes are linked to various unique leukodystrophies and leukoencephalopathies. Aminoacyl t-RNA synthetase proteins are fundamentally known as the first enzymes of translation, catalysing the conjugation of amino acids to cognate tRNAs for protein synthesis. It is known that certain aminoacyl t-RNA synthetase have multiple non-canonical roles in both transcription and translation, and their disruption results in varied and complicated phenotypes...
February 3, 2019: Brain: a Journal of Neurology
https://read.qxmd.com/read/30714330/a-novel-splice-site-mutation-in-ap1s2-gene-for-x-linked-mental-retardation-in-a-chinese-pedigree-and-literature-review
#19
REVIEW
Liang Huo, Ziteng Teng, Hua Wang, Xueyan Liu
BACKGROUND: Pettigrew syndrome (PGS) is a rare X-linked mental retardation that caused by AP1S2 mutation. The pathogenesis of AP1S2 deficiency has remained elusive. The purpose of this study is to give a comprehensive overview of the phenotypic and genetic spectrum of AP1S2 mutations. METHODS: This study systematically analyzed clinical features and genetic information of a Chinese family with AP1S2 variation, and reviewed previously reported literatures with the same gene variation...
February 4, 2019: Brain and Behavior
https://read.qxmd.com/read/30706430/a-novel-wdr62-missense-mutation-in-microcephaly-with-abnormal-cortical-architecture-and-review-of-the-literature
#20
Melinda Zombor, Tibor Kalmár, Nikoletta Nagy, Marianne Berényi, Borbála Telcs, Zoltán Maróti, Oliver Brandau, László Sztriha
Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe microcephaly at birth. One type of the disorder, MCPH2, is caused by biallelic mutations in the WDR62 gene, which encodes the WD repeat-containing protein 62. Patients with WDR62 mutation may have a wide range of malformations of cortical development in addition to congenital microcephaly. We describe two patients, a boy and a girl, with severe congenital microcephaly, global developmental delay, epilepsy, and failure to thrive...
February 1, 2019: Journal of Applied Genetics
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