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neuro developmental delay

Niraj Kumar Nikunj, Devendra Mishra, Monica Juneja, Bibek Talukdar
We enrolled 75 consecutive infants presenting with history of first seizure at a tertiary care hospital in New Delhi, India. Clinical and biochemical work-up for etiology, and electroencephalography were performed in all infants. Developmental assessment was done 3-month after discharge. 72% had generalized seizures, and fever was the commonest co-morbidity (57.3%). 68% had provoked seizures, mainly due to hypocalcemia (34.3%) or neuro-infections (29.3%). Seven (9.3%) infants died during hospital stay; mostly those with neuro-infections...
October 8, 2016: Indian Pediatrics
Abdelmoneim E M Kheir
Zellweger syndrome, a paradigm of human peroxisomal disorders is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, sensorineural deafness and retinal dysfunction. This is a case report of a baby boy born with facial dysmorphism, profound hypotonia, seizures, and hepatomegaly. The diagnosis was not evident initially but only later when he presented with obstructive jaundiced and renal cysts. He died at the age of seven months. Biochemical studies revealed elevation of very long chain fatty acids and phytanic acid consistent with a peroxisomal disorder...
2011: Sudan J Paediatr
Konstanze Hörtnagel, Inge Krägeloh-Mann, Antje Bornemann, Miriam Döcker, Saskia Biskup, Heidi Mayrhofer, Florian Battke, Gabriele du Bois, Klaus Harzer
Vesicular protein sorting-associated proteins (VPS, including VPS11) are indispensable in the endocytic network, in particular the endosome-lysosome biogenesis. Exome sequencing revealed the homozygous variant p.Leu387_ Gly395del in the VPS11 gene in two siblings. On immunoblotting, the mutant VPS11 protein showed a distinctly reduced immunostaining intensity. The children presented with primary and severe developmental delay associated with myoclonic seizures, spastic tetraplegia, trunk and neck hypotonia, blindness, hearing loss, and microcephaly...
November 2016: Journal of Inherited Metabolic Disease
Parvaneh Karimzadeh, Narjes Jafari, Habibeh Nejad Biglari, Sayena Jabbehdari, Simin Khayat Zadeh, Farzad Ahmad Abadi, Azra Lotfi
OBJECTIVE: We aimed to investigate the clinical and para clinical manifestations of neuro metabolic disorders, in patients who presented by neuro developmental delay in their neuro developmental milestones. MATERIALS & METHODS: The patients diagnosed as neuro developmental delay and regression with or without seizure at the Neurology Department of Mofid Children Hospital in Tehran, Iran between 2004 and 2014 were included in our study. These patients diagnosed as neuro developmental delay by pediatric neurologists in view of diagnostic /screening neuro developmental assessment tests...
2016: Iranian Journal of Child Neurology
Ukpong B Eyo, Madhuvika Murugan, Long-Jun Wu
Epilepsy has remained a significant social concern and financial burden globally. Current therapeutic strategies are based primarily on neurocentric mechanisms that have not proven successful in at least a third of patients, raising the need for novel alternative and complementary approaches. Recent evidence implicates glial cells and neuroinflammation in the pathogenesis of epilepsy with the promise of targeting these cells to complement existing strategies. Specifically, microglial involvement, as a major inflammatory cell in the epileptic brain, has been poorly studied...
May 18, 2016: Glia
Mohammad Usman Ali, Anjum Mehmood, Mahrukh Ayesha Ali
Angelman Syndrome (AS) is believed to be a complex neuro-developmental genetic disorder that is often described clinically by the presence of behavioural uniqueness and movement disorders; in addition to having developmental delay and speech impairment. Genetic factors have been linked to the syndrome's aetiology in 90% of cases, although in 10% cases, an unidentified genetic mechanism accounts for the classic phenotypic features of AS. Angelman Syndrome in general or with associated thyroid dysfunction, have never been reported from Pakistan...
October 2015: Journal of Ayub Medical College, Abbottabad: JAMC
Daniella Nishri, Hadassa Goldberg-Stern, Iris Noyman, Lubov Blumkin, Sara Kivity, Hirotomo Saitsu, Mitsuko Nakashima, Naomichi Matsumoto, Esther Leshinsky-Silver, Tally Lerman-Sagie, Dorit Lev
INTRODUCTION: Early onset epileptic encephalopathies (EOEEs) are a group of devastating diseases, manifesting in the first year of life with frequent seizures and/or prominent interictal epileptiform discharges on the electroencephalogram, developmental delay or regression and usually a poor prognosis. There are numerous causes for EOEEs making the diagnostic workup time consuming and costly. METHODS: We describe two siblings with fatal EOEE, profound global developmental delay and post-natal microcephaly that underwent extensive biochemical and metabolic workup in vain...
May 2016: European Journal of Paediatric Neurology: EJPN
Manipriya Ravindran, Prakash Amborium, B Umamaheswari, Gokul Ramani, Binu Ninan
BACKGROUND: Neonatal seizures are a common manifestation of brain dysfunction. Neonatal magnetic resonance imaging (MRI) has rapidly become the study of choice for the evaluation of central nervous systems disorders in newborns. According to a study conducted in Wilhelmina Children's Hospital, University Medical Center Utrecht, diffusion Restriction (DR) changes in the MRI is a good indicator of cell dysfunction (reversible or irreversible) within one week of insult. OBJECTIVES: The main aim of this study was to find the association of DR changes in MRI of brain for neonatal seizures with long term neurodevelopment outcome...
October 2015: Journal of Pediatric Neurosciences
Angela Clifford, Linda Lang, Ruoling Chen, Kaarin J Anstey, Anthony Seaton
OBJECTIVES: Air pollution is associated with increased risk of respiratory, cardiovascular and cerebrovascular disease, but its association with cognitive functioning and impairment is unclear. The aim of this systematic review was to examine whether a relationship exists between these variables across the life course. METHODS: We searched Web of Knowledge, Pubmed, SciVerse Scopus, CINAHL, PsychInfo and Science Direct up to October 2015 to identify studies that investigated the association between air pollution and performance on neurocognitive tests...
May 2016: Environmental Research
Susan Byrne, Carlo Dionisi-Vici, Luke Smith, Mathias Gautel, Heinz Jungbluth
Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency. Profound developmental delay, progressive failure to thrive and acquired microcephaly are almost universal, suggesting an evolving (neuro) degenerative component. In most patients there is additional variable multisystem involvement that may affect virtually any organ system, including lungs, thyroid, liver and kidneys...
2016: Orphanet Journal of Rare Diseases
Emanuele G Coci, Udo Koehler, Thomas Liehr, Armin Stelzner, Christian Fink, Hendrik Langen, Joachim Riedel
BACKGROUND: Non-progressive cerebellar ataxia with mental retardation (CANPMR, OMIM 614756) and chromosome 1p32-p31 deletion syndrome (OMIM 613735) are two very rare inherited disorders, which are caused by mono-allelic deficiency (haplo-insufficiency) of calmodulin-binding transcription activator 1 (CAMTA1) and, respectively, nuclear factor 1 A (NFIA) genes. The yet reported patients affected by mono-allelic CAMTA1 dysfunction presented with neonatal hypotonia, delayed and ataxic gait, cerebellar atrophy, psychological delay and speech impairment, while individuals carrying a disrupted NFIA allele suffered from agenesis/hypoplasia of the corpus callosum, ventriculomegaly, developmental delay and urinary tract abnormalities...
2016: Molecular Cytogenetics
Paul R Kasher, Katherine E Schertz, Megan Thomas, Adam Jackson, Silvia Annunziata, María J Ballesta-Martinez, Philippe M Campeau, Peter E Clayton, Jennifer L Eaton, Tiziana Granata, Encarna Guillén-Navarro, Cristina Hernando, Caroline E Laverriere, Agne Liedén, Olaya Villa-Marcos, Meriel McEntagart, Ann Nordgren, Chiara Pantaleoni, Céline Pebrel-Richard, Catherine Sarret, Francesca L Sciacca, Ronnie Wright, Bronwyn Kerr, Eric Glasgow, Siddharth Banka
Genetic studies of intellectual disability and identification of monogenic causes of obesity in humans have made immense contribution toward the understanding of the brain and control of body mass. The leptin > melanocortin > SIM1 pathway is dysregulated in multiple monogenic human obesity syndromes but its downstream targets are still unknown. In ten individuals from six families, with overlapping 6q16.1 deletions, we describe a disorder of variable developmental delay, intellectual disability, and susceptibility to obesity and hyperphagia...
February 4, 2016: American Journal of Human Genetics
Kendra Gagnon, Susan Cannon, Kathleen B Weatherstone
BACKGROUND: It is difficult to predict which preterm babies are most at risk for poor neurodevelopmental outcomes. A quick, highly predictive assessment tool would aid neonatal clinicians in making decisions about follow-up care. PURPOSE: The purpose of this study was to determine whether performance on the Premie-Neuro in the neonatal intensive care unit predicted neurodevelopmental outcomes at 3 months' adjusted age and 24 months' chronological age. METHODS: Thirty-four preterm infants were administered the Premie-Neuro in the neonatal intensive care unit...
April 2016: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
Ziduan Han, Stephanie Boas, Nathan E Schroeder
Nematodes are considered excellent models for understanding fundamental aspects of neuron function. However, nematodes are less frequently used as models for examining the evolution of nervous systems. While the habitats and behaviors of nematodes are diverse, the neuroanatomy of nematodes is often considered highly conserved. A small number of nematode species greatly influences our understanding of nematode neurobiology. The free-living species Caenorhabditis elegans and, to a lesser extent, the mammalian gastrointestinal parasite Ascaris suum are, historically, the primary sources of knowledge regarding nematode neurobiology...
2015: Frontiers in Neuroanatomy
Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Jenny Lu, Susan Byrne, Georg F Hoffmann, Heinz Jungbluth, Mustafa Sahin
Single gene disorders of the autophagy pathway are an emerging, novel and diverse group of multisystem diseases in children. Clinically, these disorders prominently affect the central nervous system at various stages of development, leading to brain malformations, developmental delay, intellectual disability, epilepsy, movement disorders, and neurodegeneration, among others. Frequent early and severe involvement of the central nervous system puts the paediatric neurologist, neurogeneticist, and neurometabolic specialist at the forefront of recognizing and treating these rare conditions...
February 2016: Brain: a Journal of Neurology
Raili Sylvia Riikonen, Tiina Wallden, Hannaleena Kokkonen
Familial cases of West syndrome have been reported only in Japan. In that study no chromosomal analyses were made. It has been suggested that microarray analysis should be included in the diagnostic evaluation of patients with infantile spasms and developmental delay, when an evaluation for structural brain lesions and metabolic disorders reveal no abnormal findings. We report here the first case of infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations. The daughter and mother with infantile spasms, and the autistic son had the duplication...
January 2016: European Journal of Paediatric Neurology: EJPN
Joanne M George, Roslyn N Boyd, Paul B Colditz, Stephen E Rose, Kerstin Pannek, Jurgen Fripp, Barbara E Lingwood, Melissa M Lai, Annice H T Kong, Robert S Ware, Alan Coulthard, Christine M Finn, Sasaka E Bandaranayake
BACKGROUND: More than 50 percent of all infants born very preterm will experience significant motor and cognitive impairment. Provision of early intervention is dependent upon accurate, early identification of infants at risk of adverse outcomes. Magnetic resonance imaging at term equivalent age combined with General Movements assessment at 12 weeks corrected age is currently the most accurate method for early prediction of cerebral palsy at 12 months corrected age. To date no studies have compared the use of earlier magnetic resonance imaging combined with neuromotor and neurobehavioural assessments (at 30 weeks postmenstrual age) to predict later motor and neurodevelopmental outcomes including cerebral palsy (at 12-24 months corrected age)...
2015: BMC Pediatrics
Gilian Tenbergen, Matthias Wittfoth, Helge Frieling, Jorge Ponseti, Martin Walter, Henrik Walter, Klaus M Beier, Boris Schiffer, Tillmann H C Kruger
A pedophilic disorder is recognized for its impairment to the individual and for the harm it may cause to others. Pedophilia is often considered a side issue and research into the nature of pedophilia is delayed in comparison to research into other psychiatric disorders. However, with the increasing use of neuroimaging techniques, such as functional and structural magnetic resonance imaging (sMRI, fMRI), together with neuropsychological studies, we are increasing our knowledge of predisposing and accompanying factors contributing to pedophilia development...
2015: Frontiers in Human Neuroscience
Luca A Ramenghi
Late preterm infants (born between 34+0 and 36+6 weeks gestation) account for the recent striking increase in premature birth and they carry a higher vulnerability to suffer brain insults compared to term infants. These babies can develop any kind of known brain lesions including those affecting the most premature babies ( intraventricular haemorrhage) and lesions affecting more typically term babies like asphyxia and stroke. In other words there is not a specific brain lesion characterizing this gestational age group, and there is not a specific maturational landmark although "subplate neurons" are suppose to ultimate their connectivity in this period and the cortical volume is significantly increasing...
2015: Acta Bio-medica: Atenei Parmensis
Addie Nesbitt, Elizabeth J Bhoj, Kristin McDonald Gibson, Zhenming Yu, Elizabeth Denenberg, Mahdi Sarmady, Tanya Tischler, Kajia Cao, Holly Dubbs, Elaine H Zackai, Avni Santani
The SOX5 haploinsufficiency syndrome is characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. The smallest deletion encompassed only one gene, SOX5 (OMIM 604975), indicating that haploinsufficiency of SOX5 contributes to neuro developmental delay. Although multiple deletions of the SOX5 gene have been reported in patients, none are strictly intragenic point mutations. Here, we report the identification of a de novo loss of function variant in SOX5 identified through whole exome sequencing...
November 2015: American Journal of Medical Genetics. Part A
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