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https://www.readbyqxmd.com/read/30320441/developmental-outcomes-in-children-with-congenital-cerebellar-malformations
#1
Elana F Pinchefsky, Andrea Accogli, Michael I Shevell, Christine Saint-Martin, Myriam Srour
AIM: Neurodevelopmental outcomes in children with congenital cerebellar malformations (CCMs) remain poorly defined. We aimed to assess whether specific neuroimaging features in CCM patients correlate with neurodevelopmental outcomes. METHOD: Hospital records and neuroimaging of 67 children with CCMs were systematically reviewed. Logistic regression analyses were used to assess associations between specific imaging features and neurodevelopmental outcomes. RESULTS: CCM categories were distributed as follows: 28 percent isolated vermis hypoplasia (n=19), 28 percent global cerebellar hypoplasia (n=19), 15 percent Dandy-Walker malformation (n=10), 13 percent pontocerebellar hypoplasia (PCH, n=9), 9 percent molar tooth malformation (n=6), 3 percent rhombencephalosynapsis (n=2), and 3 percent unilateral cerebellar malformation (n=2)...
October 15, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/30319361/extended-combined-neonatal-treatment-with-erythropoietin-plus-melatonin-prevents-posthemorrhagic-hydrocephalus-of-prematurity-in-rats
#2
Shenandoah Robinson, Fatu S Conteh, Akosua Y Oppong, Tracylyn R Yellowhair, Jessie C Newville, Nagat El Demerdash, Christine L Shrock, Jessie R Maxwell, Stephen Jett, Frances J Northington, Lauren L Jantzie
Posthemorrhagic hydrocephalus of prematurity (PHHP) remains a global challenge. Early preterm infants (<32 weeks gestation), particularly those exposed to chorioamnionitis (CAM), are prone to intraventricular hemorrhage (IVH) and PHHP. We established an age-appropriate, preclinical model of PHHP with progressive macrocephaly and ventriculomegaly to test whether non-surgical neonatal treatment could modulate PHHP. We combined prenatal CAM and postnatal day 1 (P1, equivalent to 30 weeks human gestation) IVH in rats, and administered systemic erythropoietin (EPO) plus melatonin (MLT), or vehicle, from P2 to P10...
2018: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/30315422/dental-radiographic-findings-in-18-individuals-with-satb2-associated-syndrome
#3
John Scott, Chad Adams, Kirt Simmons, Andrea Feather, John Jones, Larry Hartzell, Lucia Wesley, Adam Johnson, Jennifer Fish, Katherine Bosanko, Stephen Beetstra, Yuri A Zarate
OBJECTIVE: To characterize the radiographic dental phenotype of individuals with SATB2-associated syndrome (SAS). MATERIALS AND METHODS: Participants were evaluated by a multidisciplinary team during a concurrent clinic conducted during the 1st international SAS family meeting held in 2017 at a single institution. Whenever possible, panoramic and/or periapical radiographs were obtained in clinic or previously obtained and provided by the caregiver. RESULTS: Of the 37 individuals evaluated, 18 (12 males, median age 8...
October 12, 2018: Clinical Oral Investigations
https://www.readbyqxmd.com/read/30311510/novel-homozygous-deletion-in-strada-gene-associated-with-polyhydramnios-megalencephaly-and-epilepsy-in-2-siblings-implications-for-diagnosis-and-treatment
#4
Katherine Nelson, Christopher Jackman, Jennifer Bell, Chie-Schin Shih, Katelyn Payne, Stephen Dlouhy, Laurence Walsh
Mutations in the STE20-related kinase adaptor α ( STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and craniofacial dysmorphisms. To date, there have been 17 reported individuals diagnosed with STRADA mutations, 16 of which are from a single Old Order Mennonite cohort and share a deletion of exons 9-13. The remaining individual is of consanguineous Indian descent and has a homozygous single-base pair duplication...
October 12, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30305694/neonatal-regulatory-behavior-problems-are-predicted-by-maternal-early-pregnancy-overweight-and-obesity-findings-from-the-prospective-predo-study
#5
Polina Girchenko, Marius Lahti, Jari Lahti, Anu-Katriina Pesonen, Esa Hämäläinen, Pia M Villa, Eero Kajantie, Hannele Laivuori, Rebecca M Reynolds, Katri Räikkönen
INTRODUCTION: Maternal overweight/obesity and comorbid hypertensive disorders and gestational diabetes associate with neurodevelopmental delay in the offspring in childhood. We hypothesize that these maternal conditions associate also with the offspring regulatory behavior problems and impact on neurodevelopment via the offspring regulatory behavior. METHODS: A number of 3117 women of the PREDO Study filled in a questionnaire on regulatory behavior problems at the child's mean age of 16...
October 10, 2018: Pediatric Research
https://www.readbyqxmd.com/read/30305169/description-of-the-molecular-and-phenotypic-spectrum-of-wiedemann-steiner-syndrome-in-chinese-patients
#6
Niu Li, Yirou Wang, Yu Yang, Pengpeng Wang, Hui Huang, Shiyi Xiong, Luming Sun, Min Cheng, Cui Song, Xinran Cheng, Yu Ding, Guoying Chang, Yao Chen, Yufei Xu, Tingting Yu, Ru-En Yao, Yiping Shen, Xiumin Wang, Jian Wang
BACKGROUND: Wiedemann-Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, skeletal anomalies and growth retardation, which is caused by variation of KMT2A gene. To date, only 2 Chinese WDSTS patients have been reported. Here, we report the phenotypes and KMT2A gene variations in 14 unrelated Chinese WDSTS patients and investigate the phenotypic differences between the Chinese and French cohorts. METHODS: Next generation sequencing was performed for each patient, and the variants in the KMT2A gene were validated by Sanger sequencing...
October 11, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30302899/schaaf-yang-syndrome-overview-report-of-78-individuals
#7
John McCarthy, Philip J Lupo, Erin Kovar, Megan Rech, Bret Bostwick, Daryl Scott, Katerina Kraft, Tony Roscioli, Joel Charrow, Samantha A Schrier Vergano, Edward Lose, Robert Smiegel, Yves Lacassie, Christian P Schaaf
Schaaf-Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13. SYS is a neurodevelopmental disorder that has clinical overlap with Prader-Willi Syndrome in the initial stages of life but becomes increasingly distinct throughout childhood and adolescence. Here, we describe the phenotype of an international cohort of 78 patients with nonsense or frameshift mutations in MAGEL2...
October 10, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30300710/two-siblings-with-a-novel-nonsense-variant-provide-further-delineation-of-the-spectrum-of-recessive-klhl7-diseases
#8
Lauren Jeffries, Jordan E Olivieri, Weizhen Ji, Michele Spencer-Manzon, Allen Bale, Monica Konstantino, Saquib A Lakhani
Mutations in Kelch-like family member 7 (KLHL7) have recently been described as a cause of a constellation of clinical findings with descriptions of both a Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1)-like, as well as a Bohring-Opitz syndrome (BOS)-like presentation. Here we report two siblings of Guatelmalan descent with a novel homozygous nonsense mutation (p.Arg326*) in KLHL7. These children have multiple dysmorphic features and developmental delay. Interestingly, their clinical traits inconsistently overlap both the CS/CISS1-like and BOS-like phenotypes, and the siblings also have subtle differences from each other, suggesting that clinicians need to be aware of the degree of variability in the presentations of these patients...
October 6, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/30297454/combinatorial-approach-for-complex-disorder-prediction-case-study-of-neurodevelopmental-disorders
#9
Linh Huynh, Fereydoun Hormozdiari
Early prediction of complex disorders (e.g., autism and other neurodevelopmental disorders) is one of the fundamental goals of precision medicine and personalized genomics. An early prediction of complex disorders can improve the prognosis, increase the effectiveness of interventions and treatments, and enhance the life quality of affected patients. Considering the genetic heritability of neurodevelopmental disorders, we are proposing a novel framework for utilizing rare coding variation for early prediction of these disorders in subset of affected samples...
October 8, 2018: Genetics
https://www.readbyqxmd.com/read/30296781/a-rare-case-of-concomitant-deletions-in-15q11-2-and-19p13-3
#10
Ilária C Sgardioli, Elaine Lustosa-Mendes, Ana P Dos Santos, Társis P Vieira, Vera L Gil-da-Silva-Lopes
A female individual with concomitant deletions in 15q11.2 and 19p13.3 is reported. She presents facial dysmorphisms, motor delay, learning difficulties, and mild behavioral impairment. After chromosomal microarray analysis, the final karyotype was established as 46,XX.arr[GRCh37] 15q11.2 (22770421_23282798)×1,19p13.3(3793904_4816330)×1. The deletion in 15q11.2 is 507 kb in size involving 7 non-imprinted genes, 4 of which are registered in the OMIM database and are implicated in neuropsychiatric or neurodevelopmental disorders...
October 9, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30290154/mutations-in-kcnk4-that-affect-gating-cause-a-recognizable-neurodevelopmental-syndrome
#11
Christiane K Bauer, Paolo Calligari, Francesca Clementina Radio, Viviana Caputo, Maria Lisa Dentici, Nadia Falah, Frances High, Francesca Pantaleoni, Sabina Barresi, Andrea Ciolfi, Simone Pizzi, Alessandro Bruselles, Richard Person, Sarah Richards, Megan T Cho, Daniela J Claps Sepulveda, Stefano Pro, Roberta Battini, Giuseppe Zampino, Maria Cristina Digilio, Gianfranco Bocchinfuso, Bruno Dallapiccola, Lorenzo Stella, Marco Tartaglia
Aberrant activation or inhibition of potassium (K+ ) currents across the plasma membrane of cells has been causally linked to altered neurotransmission, cardiac arrhythmias, endocrine dysfunction, and (more rarely) perturbed developmental processes. The K+ channel subfamily K member 4 (KCNK4), also known as TRAAK (TWIK-related arachidonic acid-stimulated K+ channel), belongs to the mechano-gated ion channels of the TRAAK/TREK subfamily of two-pore-domain (K2P) K+ channels. While K2P channels are well known to contribute to the resting membrane potential and cellular excitability, their involvement in pathophysiological processes remains largely uncharacterized...
October 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30290153/activating-mutations-in-pak1-encoding-p21-activated-kinase-1-cause-a-neurodevelopmental-disorder
#12
Frederike L Harms, Katja Kloth, Annette Bley, Jonas Denecke, René Santer, Davor Lessel, Maja Hempel, Kerstin Kutsche
p21-activated kinases (PAKs) are serine/threonine protein kinases acting as effectors of CDC42 and RAC, which are members of the RHO family of small GTPases. PAK1's kinase activity is autoinhibited by homodimerization, whereas CDC42 or RAC1 binding causes PAK1 activation by dimer dissociation. Major functions of the PAKs include actin cytoskeleton reorganization, for example regulation of the cellular protruding activity during cell spreading. We report the de novo PAK1 mutations c.392A>G (p.Tyr131Cys) and c...
October 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30289601/prenatal-profile-of-pallister-killian-syndrome-retrospective-analysis-of-114-pregnancies-literature-review-and-approach-to-prenatal-diagnosis
#13
E Salzano, S E Raible, M Kaur, A Wilkens, G Sperti, R K Tilton, L R Bettini, A Rocca, G Cocchi, A Selicorni, L K Conlin, D McEldrew, R Gupta, S Thakur, K Izumi, I D Krantz
Pallister-Killian syndrome (PKS) is a tissue limited mosaic disorder, characterized by variable degrees of neurodevelopmental delay and intellectual disability, typical craniofacial findings, skin pigmentation anomalies and multiple congenital malformations. The wide phenotypic spectrum of PKS in conjunction with the mosaic distribution of the i(12p) makes PKS an underdiagnosed disorder. Recognition of prenatal findings that should raise a suspicion of PKS is complicated by the fragmentation of data currently available in the literature and challenges in diagnosing a mosaic diagnosis on prenatal testing...
October 5, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30288166/evaluation-of-feeding-disorders-including-gastro-esophageal-reflux-and-oropharyngeal-dysfunction-in-children-with-cerebral-palsy
#14
Masoumeh Asgarshirazi, Monir Farokhzadeh-Soltani, Zarrintaj Keihanidost, Mamak Shariat
Objective: This cross sectional study aims to survey developing feeding disorders and nutritional deficiencies disorders in children with neurodevelopmental disorders such as cerebral palsy. Materials and methods: A total of 50 children (28 boys and 22 girls) with cerebral palsy and symptoms suggesting gastrointestinal problems such as choking, recurrent pneumonia and poor weight gain, who referred to the Pediatric department of Vali-asr Hospital, Imam Khomeini hospital complex between 1 October 2012 and 30 October 2013, were checked...
December 2017: Journal of Family & Reproductive Health
https://www.readbyqxmd.com/read/30283344/impact-of-intrauterine-growth-restriction-on-cognitive-and-motor-development-at-2-years-of-age
#15
Julia Hartkopf, Franziska Schleger, Jana Keune, Cornelia Wiechers, Jan Pauluschke-Froehlich, Magdalene Weiss, Annette Conzelmann, Sara Brucker, Hubert Preissl, Isabelle Kiefer-Schmidt
Intrauterine growth restriction (IUGR), which is already known to be a risk factor for pathological intrauterine development, perinatal mortality, and morbidity, is now also assumed to cause both physical and cognitive alterations in later child development. In the current study, effects of IUGR on infantile brain function were investigated during the fetal period and in a follow-up developmental assessment during early childhood. During the fetal period, visual and auditory event-related responses (VER and AER) were recorded using fetal magnetoencephalography (fMEG)...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/30282625/does-coagulase-negative-staphylococcal-sepsis-cause-neurodevelopmental-delay-in-preterm-infants
#16
Matthew McGovern, Lisa Flynn, Sheena Coyne, Eleanor J Molloy
No abstract text is available yet for this article.
October 3, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/30280376/grin2d-variants-in-three-cases-of-developmental-and-epileptic-encephalopathy
#17
Naomi Tsuchida, Keisuke Hamada, Masaaki Shiina, Mitsuhiro Kato, Yu Kobayashi, Jun Tohyama, Kazue Kimura, Kyoko Hoshino, Vigneswari Ganesan, Keng Wee Teik, Mitsuko Nakashima, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata, Satoko Miyatake, Naomichi Matsumoto
N-methyl-D-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy...
October 3, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/30277262/autism-linked-chd-gene-expression-patterns-during-development-predict-multi-organ-disease-phenotypes
#18
Sahrunizam Kasah, Christopher Oddy, M Albert Basson
Recent large-scale exome sequencing studies have identified mutations in several members of the CHD (Chromodomain Helicase DNA-binding protein) gene family in neurodevelopmental disorders. Mutations in the CHD2 gene have been linked to developmental delay, intellectual disability, autism and seizures, CHD8 mutations to autism and intellectual disability, whereas haploinsufficiency of CHD7 is associated with executive dysfunction and intellectual disability. In addition to these neurodevelopmental features, a wide range of other developmental defects are associated with mutants of these genes, especially with regards to CHD7 haploinsufficiency, which is the primary cause of CHARGE syndrome...
October 2, 2018: Journal of Anatomy
https://www.readbyqxmd.com/read/30275004/biallelic-variants-in-vars-in-a-family-with-two-siblings-with-intellectual-disability-and-microcephaly-case-report-and-review-of-the-literature
#19
Volkan Okur, Mythily Ganapathi, Ashley Wilson, Wendy K Chung
Two male siblings ages 15 and 10 yr old had similar features of intellectual disability, developmental delay, severe speech impairment, microcephaly, prematurity, and transient elevation of liver enzymes in infancy. Exome sequencing revealed one novel (c.65C>A; p.Ala22Asp) and one ultra-rare (c.3214T>C; p.Phe1072Leu) predicted damaging missense variant in trans in the gene encoding cytoplasmic valyl-tRNA synthetase ( VARS ). Biallelic variants in VARS have previously been associated with a neurodevelopmental disorder characterized by microcephaly, seizures, and cortical atrophy (NDMSCA; MIM #617802)...
October 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/30266824/chemical-genetic-identification-of-cdkl5-substrates-reveals-its-role-in-neuronal-microtubule-dynamics
#20
Lucas L Baltussen, Priscilla D Negraes, Margaux Silvestre, Suzanne Claxton, Max Moeskops, Evangelos Christodoulou, Helen R Flynn, Ambrosius P Snijders, Alysson R Muotri, Sila K Ultanir
Loss-of-function mutations in CDKL5 kinase cause severe neurodevelopmental delay and early-onset seizures. Identification of CDKL5 substrates is key to understanding its function. Using chemical genetics, we found that CDKL5 phosphorylates three microtubule-associated proteins: MAP1S, EB2 and ARHGEF2, and determined the phosphorylation sites. Substrate phosphorylations are greatly reduced in CDKL5 knockout mice, verifying these as physiological substrates. In CDKL5 knockout mouse neurons, dendritic microtubules have longer EB3-labelled plus-end growth duration and these altered dynamics are rescued by reduction of MAP1S levels through shRNA expression, indicating that CDKL5 regulates microtubule dynamics via phosphorylation of MAP1S...
September 28, 2018: EMBO Journal
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