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https://www.readbyqxmd.com/read/29769509/joubert-s-syndrome-a-report-of-two-cases
#1
M M Rahman, S M Rahman
Joubert's syndrome and related disorders are primarily disorder of cerebellar development. It has heterogeneity of presentation that varies from patient to patient. In the recent past we encountered a pair of children who presented with developmental delay, hypotonia and abnormal eye movements. Classic Joubert's syndrome was confirmed on the basis of clinical and neuro-imaging findings. So careful clinical assessment and appropriate neuro-imaging should be done in suspected cases for confirmation of diagnosis...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29740364/-developmental-delay-reconsidered-the-critical-role-of-age-dependent-co-variant-development
#2
Yonata Levy
In memory of Annette Karmiloff-Smith . This paper reviews recent neurobiological research reporting structural co-variance and temporal dependencies in age-dependent gene expression, parameters of cortical maturation, long range connectivity and interaction of the biological network with the environment. This research suggests that age by size trajectories of brain structures relate to functional properties more than absolute sizes. In line with these findings, recent behavioral studies of typically developing children whose language development was delayed reported long term consequences of such delays...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29560374/-de-novo-variants-in-camk2a-and-camk2b-cause-neurodevelopmental-disorders
#3
Tenpei Akita, Kazushi Aoto, Mitsuhiro Kato, Masaaki Shiina, Hiroki Mutoh, Mitsuko Nakashima, Ichiro Kuki, Shin Okazaki, Shinichi Magara, Takashi Shiihara, Kenji Yokochi, Kaori Aiba, Jun Tohyama, Chihiro Ohba, Satoko Miyatake, Noriko Miyake, Kazuhiro Ogata, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
Objective: α ( CAMK2A ) and β ( CAMK2B ) isoforms of Calcium/calmodulin-dependent protein kinase II (CaMKII) play a pivotal role in neuronal plasticity and in learning and memory processes in the brain. Here, we explore the possible involvement of α - and β -CaMKII variants in neurodevelopmental disorders. Methods: Whole-exome sequencing was performed for 976 individuals with intellectual disability, developmental delay, and epilepsy. The effect of CAMK2A and CAMK2B variants on CaMKII structure and firing of neurons was evaluated by computational structural analysis, immunoblotting, and electrophysiological analysis...
March 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29544778/low-complexity-hardware-design-methodology-for-reliable-and-automated-removal-of-ocular-and-muscular-artifact-from-eeg
#4
Amit Acharyya, Pranit N Jadhav, Valentina Bono, Koushik Maharatna, Ganesh R Naik
BACKGROUND AND OBJECTIVE: EEG is a non-invasive tool for neuro-developmental disorder diagnosis and treatment. However, EEG signal is mixed with other biological signals including Ocular and Muscular artifacts making it difficult to extract the diagnostic features. Therefore, the contaminated EEG channels are often discarded by the medical practitioners which may result in less accurate diagnosis. Many existing methods require reference electrodes, which will create discomfort to the patient/children and cause hindrance to the diagnosis of the neuro-developmental disorder and Brain Computer Interface in the pervasive environment...
May 2018: Computer Methods and Programs in Biomedicine
https://www.readbyqxmd.com/read/29303140/optic-disc-coloboma-in-two-nigerian-siblings-case-report-and-review-of-literature
#5
Y O Babalola, O O Olawoye, P O Idam
We report two cases of bilateral asymmetric optic disc coloboma (ODC) in siblings. The index patient is a 9-year-old Nigerian girl with severe cognitive deficit who presented with a poor vision of 3 years' duration. She had a history of childhood febrile convulsions and delayed developmental milestones. Her visual acuity could not be assessed because she had a cognitive deficit and expressive aphasia. Ocular examination revealed a very large excavated right optic disc with only a strip of remnant neuro-retinal rim superiorly, and a smaller left optic disc with inferior disc excavation, superior wedge of the pink neuro-retinal rim as well as a temporal optic disc pit...
November 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29201125/glutaric-aciduriatype-1-clinical-and-molecular-study-in-iranian-patients-3-novel-mutations
#6
Zahra Pirzadeh, Massoud Houshmand, Jafar Nasiri, Mohsen Mollamohammadi, Mostafa Sedighi, Seyed Hassan Tonekaboni
Objective: Glutaricaciduria type 1 (GA1), is a rare, treatable neuro metabolic disease, due to glutaryl- CoA dehydrogenase (GCDH) gene mutation.In regions without neonatal blood screening (NBS), patients are diagnosed in symptomatic period. This study was carried out to assess patients with GA1 for clinical, biochemical, neuroimaging findings and GCDH gene mutations analysis. Materials & Methods: In this cross-sectional study, clinical manifestation, neuroimaging and metabolic findings of eleven Iranian GA1 patients of MofidChildren's Hospital, Tehran, Iranbetween 2001 and 2011,were evaluated...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29106864/six-month-old-infants-with-deformational-plagiocephaly-do-not-differ-from-unaffected-infants-with-respect-to-vocal-control
#7
Kathleen Wermke, Christian Linz, Annette Hasenberg, Felix Kunz, Philipp Meyer-Marcotty, Tilmann Schweitzer
OBJECTIVES: The recommendation of a supine sleeping position led to a significant reduction of SIDS, but increased positional skull deformities (DP). Here, a quantitative analysis of babbling aims to complement previous studies of language-relevant competence based on items of the Bayley-scales that suggested the presence of developmental language delays in DP infants. Measures of fundamental frequency variability as proxies for vocal control are well suited for testing this assumption, since the laryngeal neuro-muscular system matures early and is coupled with brain function while working rapidly in coordinating the structures and mechanisms involved in infant sound production...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28877755/uric-acid-an-important-screening-tool-to-detect-inborn-errors-of-metabolism-a-case-series
#8
Eresha Jasinge, Grace Angeline Malarnangai Kularatnam, Hewa Warawitage Dilanthi, Dinesha Maduri Vidanapathirana, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike Jayasena, Nambage Dona Priyani Dhammika Chandrasiri, Neluwa Liyanage Ruwan Indika, Pyara Dilani Ratnayake, Vindya Nandani Gunasekara, Lynette Dianne Fairbanks, Blanka Stiburkova
BACKGROUND: Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism. We describe different case scenarios of 4 Sri Lankan patients related to abnormal uric acid levels in blood and urine. CASE 1: A one-and-half-year-old boy was investigated for haematuria and a calculus in the bladder. Xanthine crystals were seen in microscopic examination of urine sediment...
September 6, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28626334/effect-of-neuro-development-treatment-on-motor-development-in-preterm-infants
#9
Eun-Ju Lee
[Purpose] To investigate the effects of Neuro-Development Treatment on development in the preterm infants. [Subjects and Methods] A total of 96 premature infants were recruited for this study; 62 low birth weight preterm infants (<2.5 kg, high risk infants for developmental delay) and 34 premature infants (>2.5 kg, low risk infants for developmental delay). High risk infants were divided into intervention group (32 infants) and control group (30 infants) at time of admission. Low risk infants were into comparative group (34 infants)...
June 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28390064/pgap3-related-hyperphosphatasia-with-mental-retardation-syndrome-report-of-10-new-patients-and-a-homozygous-founder-mutation
#10
M S Abdel-Hamid, M Y Issa, G A Otaify, S F Abdel-Ghafar, H M Elbendary, M S Zaki
BACKGROUND: Hyperphosphatasia with mental retardation syndrome (HPMRS) is caused by recessive mutations in genes involved in the glycosylphosphatidylinsitol pathway, including PGAP3. MATERIALS AND METHODS: We describe 10 patients from 8 Egyptian families presenting with developmental delay, severe intellectual disability, distinct facial dysmorphism and increased alkaline phosphatase. Sanger sequencing of PGAP3 was performed. RESULTS: Eight patients had cleft palate, 4 had postnatal microcephaly and 5 had seizures...
January 2018: Clinical Genetics
https://www.readbyqxmd.com/read/28368273/consensus-statement-of-the-indian-academy-of-pediatrics-on-evaluation-and-management-of-learning-disability
#11
M K C Nair, Chhaya Prasad, Jeeson Unni, Anjan Bhattacharya, S S Kamath, Samir Dalwai
JUSTIFICATION: Learning Disability (LD) in children is a well-recognized developmental disorder, which has profound academic and psychosocial consequences. Due to the complex nature of LD and multiple disadvantages posed to the child due to LD, a multidisciplinary approach towards intervention is warranted. Given the paucity of evidence-based standardized treatment approaches, consensus guidelines for management of LD are needed. PROCESS: The meeting on formulation of national consensus guidelines on neurodevelopmental disorders was organized by Indian Academy of Pediatrics in Mumbai on 18th and 19th December, 2015...
July 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28132814/deficits-in-top-down-sensory-prediction-in-infants-at-risk-due-to-premature-birth
#12
Lauren L Emberson, Alex M Boldin, Julie E Riccio, Ronnie Guillet, Richard N Aslin
A prominent theoretical view is that the brain is inherently predictive [1, 2] and that prediction helps drive the engine of development [3, 4]. Although infants exhibit neural signatures of top-down sensory prediction [5, 6], in order to establish that prediction supports development, it must be established that deficits in early prediction abilities alter trajectories. We investigated prediction in infants born prematurely, a leading cause of neuro-cognitive impairment worldwide [7]. Prematurity, independent of medical complications, leads to developmental disturbances [8-12] and a broad range of developmental delays [13-17]...
February 6, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28101829/autism-spectrum-disorders-diagnosis-and-management
#13
REVIEW
Sharmila Banerjee Mukherjee
Autism Spectrum Disorder (ASD) is a neuro-developmental disorder commonly seen in children. It is characterized by age inappropriate, impaired social communication and the presence of stereotypic behavior. This disorder is hypothesized to result from cerebral dysfunction arising from a complex interaction between genetic, epigenetic and environmental factors. ASD should be suspected in children failing ASD specific screening tests, in the presence of red flags in social, language and/or play domains, in children with developmental or language delay, abnormal behavior, poor school performance or in those who are at high risk...
April 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27955636/effects-of-delaying-binge-drinking-on-adolescent-brain-development-a-longitudinal-neuroimaging-study
#14
Josiane Bourque, Travis E Baker, Alain Dagher, Alan C Evans, Hugh Garavan, Marco Leyton, Jean R Séguin, Robert Pihl, Patricia J Conrod
BACKGROUND: Onset of alcohol use by 14 relative to 21 years of age strongly predicts elevated risk for severe alcohol use problems, with 27% versus 4% of individuals exhibiting alcohol dependence within 10 years of onset. What remains unclear is whether this early alcohol use (i) is a marker for later problems, reflected as a pre-existing developmental predisposition, (ii) causes global neural atrophy or (iii) specifically disturbs neuro-maturational processes implicated in addiction, such as executive functions or reward processing...
December 13, 2016: BMC Psychiatry
https://www.readbyqxmd.com/read/27913086/punctate-white-matter-lesions-in-full-term-infants-with-neonatal-seizures-associated-with-slc13a5-mutations
#15
Lauren C Weeke, Eva Brilstra, Kees P Braun, Evelien Zonneveld-Huijssoon, Gajja S Salomons, Bobby P Koeleman, Koen L van Gassen, Henrica L van Straaten, Dana Craiu, Linda S de Vries
INTRODUCTION: Early-onset epileptic encephalopathy caused by biallelic SLC13A5 mutations is characterized by seizure onset in the first days of life, refractory epilepsy and developmental delay. Little detailed information about the brain MRI features is available in these patients. METHODS: Observational study describing the neuro-imaging findings in eight patients (five families) with mutations in the SLC13A5 gene. Seven infants had an MRI in the neonatal period, two had a follow-up MRI at the age of 6 and 18 months and one only at 13 months...
March 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27875541/new-perspective-on-impact-of-folic-acid-supplementation-during-pregnancy-on-neurodevelopment-autism-in-the-offspring-children-a-systematic-review
#16
REVIEW
Yunfei Gao, Chao Sheng, Ri-Hua Xie, Wen Sun, Elizabeth Asztalos, Diane Moddemann, Lonnie Zwaigenbaum, Mark Walker, Shi Wu Wen
It has been conclusively established that folic acid supplementation prior to and during early pregnancy (up to 12 weeks of gestation) can prevent neural tube defects (NTDs). We hypothesized that folate effects may extend from neuro-structural defects to alterations in neuro-behavioural and emotional skills including autism spectrum disorders (ASDs) and other developmental disorders. The objective of this review was to comprehensively evaluate evidence on the impact of folic acid on neurodevelopment other than NTDs...
2016: PloS One
https://www.readbyqxmd.com/read/27771680/etiology-and-short-term-outcome-of-first-seizure-in-hospitalized-infants
#17
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
https://www.readbyqxmd.com/read/27493320/zellweger-syndrome-a-cause-of-neonatal-hypotonia-and-seizures
#18
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: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/27473128/the-second-report-of-a-new-hypomyelinating-disease-due-to-a-defect-in-the-vps11-gene-discloses-a-massive-lysosomal-involvement
#19
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
https://www.readbyqxmd.com/read/27375759/neurometabolic-diagnosis-in-children-who-referred-as-neurodevelopmental-delay-a-practical-criteria-in-iranian-pediatric-patients
#20
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
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