scholarly journals Strabismus Surgery for Esotropia, Down Syndrome and Developmental Delay; Is an Altered Surgical Dose Required? A Literature Review

2020 ◽  
Vol 16 (1) ◽  
pp. 4-12
Author(s):  
Alia Harrison ◽  
Louise Allen ◽  
Anna O’Connor
Keyword(s):  
Down Syndrome ◽  
Literature Review ◽  
Developmental Delay ◽  
Strabismus Surgery

Two cases of DCDC2 ‐related neonatal sclerosing cholangitis with developmental delay and literature review

2021 ◽  
Author(s):  
Hannes Syryn ◽  
Anne Hoorens ◽  
Tassos Grammatikopoulos ◽  
Maesha Deheragoda ◽  
Sofie Symoens ◽  
...  
Keyword(s):  
Literature Review ◽  
Developmental Delay ◽  
Sclerosing Cholangitis

Down Syndrome: A Literature Review

2021 ◽  
pp. 328-331
Author(s):  
Rutika, B. Maske
Keyword(s):  
Down Syndrome ◽  
Literature Review ◽  
Congenital Heart ◽  
Literature Search ◽  
Social Cost ◽  
Heart Defects ◽  
Hirschsprung Disease ◽  
Review Article ◽  
Special Focus ◽  
Variable Extent

The purpose of this review is to provide the latest information on Down syndrome. The author conducted a literature search of available sources describing the issue of down syndrome with special focus on syndrome and made a comparison and evaluation of relevant findings.The results of this review indicate that Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer’s disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. In the present review article, we emphasize an overview of DS, DS-associated phenotypes diagnosis and management of the disease.

scholarly journals Relação da COVID-19 em pacientes pediátricos com a síndrome de Down: uma revisão bibliográfica / Relationship of COVID-19 in pediatric patients with Down syndrome: literature review

2021 ◽  
Vol 4 (5) ◽  
pp. 19013-19022
Author(s):  
Melissa Amorim Martins ◽  
Maressa Pacheco dos Santos Boquady ◽  
Maria Fernanda Araujo Barbosa Lima ◽  
Laryssa Ramos Pino De Souza ◽  
Natasha Rodrigues Da Silva ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Literature Review ◽  
Pediatric Patients ◽  
Relationship Of

scholarly journals Cardiofaciocutaneus syndrome: literature review and case report

2019 ◽  
Vol 8 (4) ◽  
pp. 49-53
Author(s):  
V. V. Umnov ◽  
N. V. Nikitina ◽  
A. M. Khodorovskaya ◽  
O. V. Barlova
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Literature Review ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Mapk Pathway ◽  
Heart Defects ◽  
Multiple Congenital Anomalies ◽  
Cardiofaciocutaneous Syndrome

The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.

Alternating Hemiplegia of Childhood, neurological comorbidities, intrafamilial variability: case-reports and literature review.

2021 ◽  
Author(s):  
Piero Pavone ◽  
Xena Giada Pappalardo ◽  
Naira Mustafa ◽  
Sung Yoon Cho ◽  
Dong Kyu Jin ◽  
...  
Keyword(s):  
Literature Review ◽  
Developmental Delay ◽  
Age Of Onset ◽  
Case Reports ◽  
Epileptic Seizures ◽  
The Body ◽  
Motor Dysfunction ◽  
Missense Mutations ◽  
Alternating Hemiplegia Of Childhood ◽  
Novel Variant

Abstract BACKGROUND Alternating Hemiplegia of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months, recurrent hemiplegia of one or either sides of the body or quadriplegia. Neurological comorbidities observed in two couples of AHC affected children are here reported together with data drawn by literature review. Results of genetic analysis obtained in the probands are also discussed. Developmental delay, epilepsy, tonic or dystonic spells, nystagmus and autonomic manifestations are frequently reported. AHC is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene.CASE PRESENTATION Clinical and genetic findings of a couple of twins and a couple of siblings affected by AHC from two different Italian families were deeply examined. Intrafamilial clinical variability was shown in the present cases. A pathogenic variant rs606231437 in ATP1A3 gene was detected in twins. For the affected siblings of family 2, the genetic results showed that the older brother and the healthy father shared a novel variant of GRIN2A (c.3175T>A) gene, and two missense mutations in SCNIB (rs150721582) and KCNQ2 (rs771211103) genes. In the younger brother was found only the GRIN2A variant.CONCLUSIONS Developmental delay, epileptic seizures and motor dysfunction are features frequently associated to paroxysmal hemiplegic attacks. Hemiplegic episode is only a sign even if the most remarkable of several neurological comorbidities in AHC carriers. The comparison of molecular analysis among the four probands brings out how the genetic framework is not recurrent, but may result from an unexpected greater genetic heterogeneity.

Specificity of Learning in Adults with and Without Down Syndrome

2003 ◽  
Vol 22 (3) ◽  
pp. 237-252 ◽  
Author(s):  
Steve Hansen ◽  
Bridget Sheahan ◽  
Melinda Wu ◽  
James Lyons ◽  
Timothy N. Welsh ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Developmental Delay ◽  
Visual Feedback ◽  
Feedforward Control ◽  
Peak Velocity ◽  
Kinesthetic Feedback ◽  
On Line ◽  
Time Required ◽  
Specificity Of Learning ◽  
Sensory Condition

Adults with Down syndrome (DS), an undifferentiated developmental delay (UnD) and no developmental delay practiced a manual target aiming task either with or without on-line visual feedback. Following acquisition, participants performed a retention test involving the same sensory condition available during practice, followed by a transfer test under the other sensory condition. Although the participants with UnD were highly dependent on visual feedback for movement accuracy, participants with DS relied more on either kinesthetic feedback or feedforward control for spatial precision. Participants in all three groups improved their movement times with practice. This improvement was associated both with an increase in peak velocity and a reduction in the time required to decelerate their aiming movements. Contrary to our expectations, improvements in performance were not specific to the sensory conditions available during practice.

An Interstitial 4q31.21q31.22 Microdeletion Associated with Developmental Delay: Case Report and Literature Review

2014 ◽  
Vol 142 (4) ◽  
pp. 227-238 ◽  
Author(s):  
Angeliki-Maria Vlaikou ◽  
Emmanouil Manolakos ◽  
Dimitrios Noutsopoulos ◽  
Georgios Markopoulos ◽  
Thomas Liehr ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Developmental Delay
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