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https://www.readbyqxmd.com/read/28815871/clinical-and-molecular-characterization-of-de-novo-loss-of-function-variants-in-hnrnpu
#1
Magalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, Magdalena Walkiewicz, Rui Xiao, Pilar Magoulas, Shujuan Pan, Joke Beuten, Weimin He, Jonathan A Bernstein, Christian P Schaaf, Fernando Scaglia, Christine M Eng, Yaping Yang
DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, seizures, and agenesis of the corpus callosum. HNRNPU is located within the 1q43-q44 region and mutations in the gene have been reported in patients with early infantile epileptic encephalopathy. Here, we report on the clinical presentation of four patients with de novo heterozygous HNRNPU loss-of-function mutations detected by clinical whole exome sequencing: c...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28814566/neurodevelopmental-outcome-at-2-years-for-preterm-children-born-at-22-to-34-weeks-gestation-in-france-in-2011-epipage-2-cohort-study
#2
Véronique Pierrat, Laetitia Marchand-Martin, Catherine Arnaud, Monique Kaminski, Matthieu Resche-Rigon, Cécile Lebeaux, Florence Bodeau-Livinec, Andrei S Morgan, François Goffinet, Stéphane Marret, Pierre-Yves Ancel
Objectives To describe neurodevelopmental outcomes at 2 years corrected age for children born alive at 22-26, 27-31, and 32-34 weeks' gestation in 2011, and to evaluate changes since 1997.Design Population based cohort studies, EPIPAGE and EPIPAGE-2.Setting France.Participants 5567 neonates born alive in 2011 at 22-34 completed weeks' gestation, with 4199 survivors at 2 years corrected age included in follow-up. Comparison of outcomes reported for 3334 (1997) and 2418 (2011) neonates born alive in the nine regions participating in both studies...
August 16, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28814550/changing-neurodevelopment-at-8-years-in-children-born-extremely-preterm-since-the-1990s
#3
Jeanie L Y Cheong, Peter J Anderson, Alice C Burnett, Gehan Roberts, Noni Davis, Leah Hickey, Elizabeth Carse, Lex W Doyle
BACKGROUND AND OBJECTIVE: Survival of extremely preterm (EP; <28 weeks' gestation) infants has increased over the last 2 decades. Equivalent reductions in developmental morbidity in early childhood have not been consistently reported. The aim of this study was to determine trends in neurodevelopmental outcomes at 8 years of age of children born EP (22-27 completed weeks' gestation) over the past 2 decades. METHODS: Population-based cohorts of all EP survivors born in the state of Victoria, Australia in 1991-1992, 1997, and 2005 were recruited at birth...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28811058/early-detection-of-tuberous-sclerosis-complex-an-opportunity-for-improved-neurodevelopmental-outcome
#4
Clara W T Chung, John A Lawson, Vanessa Sarkozy, Kate Riney, Orli Wargon, Antonia W Shand, Stephen Cooper, Harrison King, Sean E Kennedy, David Mowat
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition associated with epilepsy, benign tumors, and variable neurodevelopmental outcomes. The diagnosis is most commonly made after epilepsy onset, although a proportion are diagnosed prenatally. Presymptomatic or early treatment with agents such as vigabatrin offers the hope of improved neurodevelopmental outcome. Therefore early diagnosis, before the onset of seizures, is important. In a cohort of children with TSC, we evaluated the age and mode of initial presentation, assessed the neurocognitive and epilepsy outcome, and analyzed whether those diagnosed before the onset of seizures have a different outcome compared with those diagnosed postseizures...
May 26, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28807867/impairment-of-different-protein-domains-causes-variable-clinical-presentation-within-pitt-hopkins-syndrome-and-suggests-intragenic-molecular-syndromology-of-tcf4
#5
Maria Francesca Bedeschi, Giuseppe Marangi, Maria Rosaria Calvello, Stefania Ricciardi, Francesca Pia Chiara Leone, Marco Baccarin, Silvana Guerneri, Daniela Orteschi, Marina Murdolo, Serena Lattante, Silvia Frangella, Beth Keena, Margaret H Harr, Elaine Zackai, Marcella Zollino
Pitt-Hopkins syndrome is a neurodevelopmental disorder characterized by severe intellectual disability and a distinctive facial gestalt. It is caused by haploinsufficiency of the TCF4 gene. The TCF4 protein has different functional domains, with the NLS (nuclear localization signal) domain coded by exons 7-8 and the bHLH (basic Helix-Loop-Helix) domain coded by exon 18. Several alternatively spliced TCF4 variants have been described, allowing for translation of variable protein isoforms. Typical PTHS patients have impairment of at least the bHLH domain...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28807762/diagnostic-exome-sequencing-identifies-a-heterozygous-mbd5-frameshift-mutation-in-a-family-with-intellectual-disability-and-epilepsy
#6
Ji Yoon Han, In Goo Lee, Woori Jang, Myungshin Kim, Yonggoo Kim, Ja Hyun Jang, Joonhong Park
Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene include severe intellectual disability, seizure, significant speech impairment, sleep disturbance, and autistic-like behavioural problems. Here we report a 7-year-old girl with intellectual disability and epilepsy without previous clinical diagnosis...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28801223/limited-benefits-of-presymptomatic-cord-blood-transplantation-in-neurovisceral-acid-sphingomyelinase-deficiency-asmd-intermediate-type
#7
Oriane Mercati, Samia Pichard, Marie Ouachée, Roseline Froissart, Odile Fenneteau, Bastien Roche, Monique Elmaleh-Bergès, Yves Bertrand, Hélène Ogier de Baulny, Marie T Vanier, Manuel Schiff
Acid sphingomyelinase (ASM) deficient Niemann-Pick disease is a lysosomal storage disorder resulting from mutations in the SMPD1 gene. The clinical spectrum distinguishes a severe infantile neurological form (type A), a non-neurological visceral form (type B) and a rare intermediate neurovisceral form. We report the first case of presymptomatic cord blood transplantation in a child with the intermediate type of ASM deficiency due to a homozygous Tyr369Cys mutation, whose affected elder brother had developed neurodevelopmental delay from 19 months of age, and had died from severe visceral complications at the age of 3...
July 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28800210/rates-of-early-intervention-services-in-children-born-extremely-preterm-extremely-low-birthweight
#8
Ianthe S Mills, Lex W Doyle, Jeanie Ly Cheong, Gehan Roberts
AIM: To determine the rates of early intervention (EI) service use in extremely preterm (EP, <28 weeks' gestation) or extremely low birthweight (ELBW, <1000 g) infants between 1991 and 2013, and identify biological or socio-economic factors associated with receiving EI. METHODS: Participants comprised consecutive EP or ELBW survivors born in 1991-1992, 1997 or 2005 in Victoria, Australia, and randomly selected, matched term-born controls. The main outcome measure was parent-reported EI participation up to 8 years of age...
August 11, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28798661/multisensory-based-rehabilitation-approach-translational-insights-from-animal-models-to-early-intervention
#9
REVIEW
Giulia Purpura, Giovanni Cioni, Francesca Tinelli
Multisensory processes permit combinations of several inputs, coming from different sensory systems, allowing for a coherent representation of biological events and facilitating adaptation to environment. For these reasons, their application in neurological and neuropsychological rehabilitation has been enhanced in the last decades. Recent studies on animals and human models have indicated that, on one hand multisensory integration matures gradually during post-natal life and development is closely linked to environment and experience and, on the other hand, that modality-specific information seems to do not benefit by redundancy across multiple sense modalities and is more readily perceived in unimodal than in multimodal stimulation...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28795253/autonomic-responses-to-head-up-tilt-test-in-children-with-autism-spectrum-disorders
#10
Véronique-Aurélie Bricout, Marion Pace, Léa Dumortier, Anne Favre-Juvin, Michel Guinot
Autism Spectrum Disorders (ASD) is a group of neurodevelopmental disorders often manifested by social and behavioral deficiencies. Autonomic dysfunction is frequently reported in the autistic population but the mechanisms remain largely unknown. We aimed to characterize the cardiac autonomic profile of children with autism during a head-up tilt test. Thirty-nine male children were recruited: 19 controls (9.9 ± 1.6 years) and 20 children with ASD without intellectual disability (10.7 ± 1.2 years). Each child underwent a head-up tilt test on a motorized tilt table...
August 9, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/28794905/further-clinical-delineation-of-the-mef2c-haploinsufficiency-syndrome-report-on-new-cases-and-literature-review-of-severe-neurodevelopmental-disorders-presenting-with-seizures-absent-speech-and-involuntary-movements
#11
REVIEW
Irena Vrečar, Josie Innes, Elizabeth A Jones, Helen Kingston, William Reardon, Bronwyn Kerr, Jill Clayton-Smith, Sofia Douzgou
Mutations in the MEF2C ( myocyte enhancer factor 2 ) gene have been established as a cause for an intellectual disability syndrome presenting with seizures, absence of speech, stereotypic movements, hypotonia, and limited ambulation. Phenotypic overlap with Rett's and Angelman's syndromes has been noted. Following the first reports of 5q14.3q15 microdeletions encompassing the MEF2C gene, further cases with point mutations and partial gene deletions of the MEF2C gene have been described. We present the clinical phenotype of our cohort of six patients with MEF2C mutations and compare our findings with previously reported patients as well as with a growing number of genetic conditions presenting with a severe neurodevelopmental, Rett-like, phenotype...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28791047/central-precocious-puberty-and-response-to-gnrha-therapy-in-children-with-cerebral-palsy-and-moderate-to-severe-motor-impairment-data-from-a-longitudinal-case-control-multicentre-italian-study
#12
Patrizia Bruzzi, Maria Francesca Messina, Alessandra Bartoli, Barbara Predieri, Laura Lucaccioni, Simona Filomena Madeo, Alberto Verrotti, Filippo De Luca, Lorenzo Iughetti
BACKGROUND: Children affected by neurodevelopmental disability could experience early pubertal changes at least 20 times more than the general population. Limited data about central precocious puberty (CPP) among children affected by cerebral palsy (CP) are available. METHODS: This is a longitudinal, observational, retrospective, case-control study involving 22 children affected by CPP and CP (group A), 22 paired with CP but without CPP (group B), and 22 children with CPP without CP...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28777490/a-novel-genetic-syndrome-with-stard9-mutation-and-abnormal-spindle-morphology
#13
Nobuhiko Okamoto, Yuki Tsuchiya, Fuyuki Miya, Tatsuhiko Tsunoda, Kumiko Yamashita, Keith A Boroevich, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Daiju Kitagawa
Intellectual disability (ID) is one of neurodevelopmental disorders characterized by serious defects in both intelligence and adaptive behavior. Although it has been suggested that genetic aberrations associated with the process of cell division underlie ID, the cytological evidence for mitotic defects in actual patient's cells is rarely reported. Here, we report a novel mutation in the STARD9 (also known as KIF16A) gene found in a patient with severe ID, characteristic features, epilepsy, acquired microcephaly, and blindness...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28774669/neurodevelopmental-disorders-in-children-with-macrocephaly-a-prevalence-study-and-pten-gene-analysis
#14
Hirofumi Kurata, Kentaro Shirai, Yoshiaki Saito, Tetsuya Okazaki, Koyo Ohno, Masayoshi Oguri, Kaori Adachi, Eiji Nanba, Yoshihiro Maegaki
PURPOSE: To clarify the relationship between macrocephaly and neurodevelopmental disorders, as well as identify the prevalence of PTEN mutations in autism spectrum disorders with macrocephaly in Japan. SUBJECTS AND METHODS: Diagnostic and other medical information of children with macrocephaly younger than 4years (n=93) were collected for analysis. PTEN gene mutation analysis was conducted in another set of 16 macrocephalic individuals aged 3-22years. RESULTS: Sixteen macrocephalic children were associated with neurodevelopmental disorders, including autism spectrum disorders (ASDs) (n=6), autistic traits (n=5), intellectual disability (n=5), attention deficit hyperactivity disorder (n=1), developmental coordination disorders (n=1), and language disorder (n=1)...
July 31, 2017: Brain & Development
https://www.readbyqxmd.com/read/28761347/genetic-and-epigenetic-mechanisms-of-epilepsy-a-review
#15
REVIEW
Tian Chen, Mohan Giri, Zhenyi Xia, Yadu Nanda Subedi, Yan Li
Epilepsy is a common episodic neurological disorder or condition characterized by recurrent epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies have localized multiple loci that may harbor susceptibility genes to epilepsy, and mutational analyses have detected a number of mutations involved in both ion channel and nonion channel genes in patients with idiopathic epilepsy. Genome-wide studies of epilepsy have found copy number variants at 2q24.2-q24.3, 7q11.22, 15q11...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28756311/neurogenesis-impairment-an-early-developmental-defect-in-down-syndrome
#16
REVIEW
Fiorenza Stagni, Andrea Giacomini, Marco Emili, Sandra Guidi, Renata Bartesaghi
Down syndrome (DS) is characterized by brain hypotrophy and intellectual disability starting from early life stages. Accumulating evidence shows that the phenotypic features of the DS brain can be traced back to the fetal period since the DS brain exhibits proliferation potency reduction starting from the critical time window of fetal neurogenesis. This defect is worsened by the fact that neural progenitor cells exhibit reduced acquisition of a neuronal phenotype and an increase in the acquisition of an astrocytic phenotype...
July 26, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28755208/persistent-microglial-activation-and-synaptic-loss-with-behavioral-abnormalities-in-mouse-offspring-exposed-to-caspr2-antibodies-in-utero
#17
Ester Coutinho, David A Menassa, Leslie Jacobson, Steven J West, Joana Domingos, Teresa C Moloney, Bethan Lang, Paul J Harrison, David L H Bennett, David Bannerman, Angela Vincent
Gestational transfer of maternal antibodies against fetal neuronal proteins may be relevant to some neurodevelopmental disorders, but until recently there were no proteins identified. We recently reported a fivefold increase in CASPR2-antibodies in mid-gestation sera from mothers of children with intellectual and motor disabilities. Here, we exposed mice in utero to purified IgG from patients with CASPR2-antibodies (CASPR2-IgGs) or from healthy controls (HC-IgGs). CASPR2-IgG but not HC-IgG bound to fetal brain parenchyma, from which CASPR2-antibodies could be eluted...
July 28, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28754226/febrile-seizures-and-epilepsy-association-with-autism-and-other-neurodevelopmental-disorders-in-the-child-and-adolescent-twin-study-in-sweden
#18
Christopher Gillberg, Sebastian Lundström, Elisabeth Fernell, Gill Nilsson, Brian Neville
BACKGROUND: There is a recently well-documented association between childhood epilepsy and earlysymptomaticsyndromeselicitingneurodevelopmentalclinicalexaminations (ESSENCE) including autism spectrum disorder, but the relationship between febrile seizures and ESSENCE is less clear. METHODS: The Child and Adolescent Twin Study in Sweden (CATSS) is an ongoing population-based study targeting twins born in Sweden since July 1, 1992. Parents of 27,092 twins were interviewed using a validated DSM-IV-based interview for ESSENCE, in connection with the twins' ninth or twelfth birthday...
June 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28750047/human-cytomegalovirus-ie1-downregulates-hes1-in-neural-progenitor-cells-as-a-potential-e3-ubiquitin-ligase
#19
Xi-Juan Liu, Bo Yang, Sheng-Nan Huang, Cong-Cong Wu, Xiao-Jun Li, Shuang Cheng, Xuan Jiang, Fei Hu, Ying-Zi Ming, Michael Nevels, William J Britt, Simon Rayner, Qiyi Tang, Wen-Bo Zeng, Fei Zhao, Min-Hua Luo
Congenital human cytomegalovirus (HCMV) infection is the leading cause of neurological disabilities in children worldwide, but the mechanisms underlying these disorders are far from well-defined. HCMV infection has been shown to dysregulate the Notch signaling pathway in human neural progenitor cells (NPCs). As an important downstream effector of Notch signaling, the transcriptional regulator Hairy and Enhancer of Split 1 (Hes1) is essential for governing NPC fate and fetal brain development. In the present study, we report that HCMV infection downregulates Hes1 protein levels in infected NPCs...
July 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28748485/early-onset-first-episode-psychosis-dimensional-structure-of-symptoms-clinical-subtypes-and-related-neurodevelopmental-markers
#20
Maria Giuseppina Petruzzelli, Lucia Margari, Andrea Bosco, Francesco Craig, Roberto Palumbi, Francesco Margari
Despite the growing interest in a dimensional approach to the assessment of symptoms and clinically relevant phenomena in schizophrenia spectrum disorders, very few studies, to date, have examined the dimensional structure of symptoms in early onset first episode psychosis. In the present study, we assessed a sample of 60 children and adolescents of both sexes with first episode schizophrenia spectrum psychosis. A principal component analysis (PCA) of the Positive and Negative Syndrome Scale (PANSS) was performed and the factors obtained were used to carry out a cluster analysis...
July 26, 2017: European Child & Adolescent Psychiatry
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