Clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of Brazil

Bertelli, Érika Cristina Pavarino; Biselli, Joice Matos; Bonfim, Daiana; Goloni-Bertollo, Eny Maria

doi:10.1590/s0104-42302009000500017

Cited by 21 publications

(8 citation statements)

References 14 publications

(28 reference statements)

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“…In previous studies, the anomalies which are most common in DS cases were congenital heart defect (CHD), the percentage varied from 44.6, 26, and 56.5%. 7 8 9 In the present study, a high proportion (62%) of DS children presented with cardiac anomalies. This is because our center is a tertiary care facility, and hence, more severe cases are referred for evaluation and management.…”

Section: Discussionsupporting

confidence: 47%

Clinical Profile of Indian Children with Down Syndrome

et al. 2021

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This retrospective study was performed on 208 patients with Down syndrome (DS) from heterogeneous ethnic population and admitted under Genetics Metabolic Unit. The aim of the study was to look for phenotypic variability and associated complications in children and adolescents with DS. The average age of the evaluated DS patients was 34 months. Cardiac anomalies were found in 128 (62%) of the 208 cases. Among the cardiac disorders, atrial septal defects accounted for 30% of cases. Other complications observed were hypothyroidism and developmental delay in around 31% cases and neonatal cholestasis in 14% cases. Also, we report two cases with Moya-Moya disease and one case with atlanto-axial dislocation.

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Section: Discussionsupporting

confidence: 47%

Clinical Profile of Indian Children with Down Syndrome

et al. 2021

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“…This result is similar to the study of Azman et al 21 that is, the low set ear was found in 56.1% of the sample. Low set ear is also found in most of the samples in the study of Podder et al, 22 that is as much as 71.8%, while the study of Bartelli 23 revealed that low set ear is only found in 16.1% of samples of down syndrome children. The lower ear portion and rotation cause changes in the tragus position that affects the parallelism of the ala-tragus line with the occlusal plane.…”

Section: Discussionmentioning

confidence: 84%

The differences in parallelism between ala-tragus line and occlusal plane of down syndrome and normal individuals

Kusumadewi

Kurnikasari

Rikmasari

et al. 2020

Majalah Kedokteran Gigi Indonesia

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People with down syndrome have a different craniofacial structure compared to normal individuals. Commonly, down syndrome patients have abnormal ear morphology with smaller size, and lower ear position compared to that of normalsubjects. These patients also have smaller nose, shorter maxilla structure and facial height. Other disorders are anomalies in tooth shape, numbers and size. The ala-tragus line is one of the anatomical landmarks to determine the occlusal plane orientation. Abnormalities in the anatomical structure of people with down syndrome can affect the parallelism between the ala-tragus line and the occlusal plane. The purpose of this research was to determine the differences in parallelism between the ala-tragus line and the occlusal plane of people with down syndrome and normal individuals. The sample in this study were people with down syndrome and normal individuals. The sample was photographed using a digital camera with a fox plane attached to the oral cavity. Parallelism of the ala-tragus line and the occlusal plane was analyzed by tracing these photographs. Photo tracing was done using the Autocad 2013 software. The mean value of angle on people with down syndrome (5.852° ± 5.367°) was greater than that of normal individuals (2.169° ± 2.557°). Based on the research, it was concluded that the parallelism of the ala-tragus line to the occlusal plane in people with down syndrome was different from that in normal individuals. The ala-tragus inferior line in normal individuals was more parallel to the occlusal plane compared to that in people with down syndrome.

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“…DS is the most common aneuploidy compatible with survival, occurring in 1 out of 691 live births (Centers for Disease Control and Prevention [CDC], 2017). People with DS commonly display intellectual disability, hypotonia, and delayed language and speech development (Mundy et al, 1995; Pavarino Bertelli et al, 2009). The DS brain is characterized by a small cerebellum, reduced neurogenesis, dendritic hypotrophy, and altered neurotransmitter and receptor systems (Das et al, 2013; Stagni et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

Hydroxyurea Improves Spatial Memory and Cognitive Plasticity in Mice and Has a Mild Effect on These Parameters in a Down Syndrome Mouse Model

Brose

Savonenko

Devenney

et al. 2019

Front. Aging Neurosci.

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Down syndrome (DS), a genetic disorder caused by partial or complete triplication of chromosome 21, is the most common genetic cause of intellectual disability. DS mouse models and cell lines display defects in cellular adaptive stress responses including autophagy, unfolded protein response, and mitochondrial bioenergetics. We tested the ability of hydroxyurea (HU), an FDA-approved pharmacological agent that activates adaptive cellular stress response pathways, to improve the cognitive function of Ts65Dn mice. The chronic HU treatment started at a stage when early mild cognitive deficits are present in this model (∼3 months of age) and continued until a stage of advanced cognitive deficits in untreated mice (∼5–6 months of age). The HU effects on cognitive performance were analyzed using a battery of water maze tasks designed to detect changes in different types of memory with sensitivity wide enough to detect deficits as well as improvements in spatial memory. The most common characteristic of cognitive deficits observed in trisomic mice at 5–6 months of age was their inability to rapidly acquire new information for long-term storage, a feature akin to episodic-like memory. On the background of severe cognitive impairments in untreated trisomic mice, HU-treatment produced mild but significant benefits in Ts65Dn by improving memory acquisition and short-term retention of spatial information. In control mice, HU treatment facilitated memory retention in constant (reference memory) as well as time-variant conditions (episodic-like memory) implicating a robust nootropic effect. This was the first proof-of-concept study of HU treatment in a DS model, and indicates that further studies are warranted to assess a window to optimize timing and dosage of the treatment in this pre-clinical phase. Findings of this study indicate that HU has potential for improving memory retention and cognitive flexibility that can be harnessed for the amelioration of cognitive deficits in normal aging and in cognitive decline (dementia) related to DS and other neurodegenerative diseases.

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Clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of Brazil

Cited by 21 publications

References 14 publications

Clinical Profile of Indian Children with Down Syndrome

Clinical Profile of Indian Children with Down Syndrome

The differences in parallelism between ala-tragus line and occlusal plane of down syndrome and normal individuals

Hydroxyurea Improves Spatial Memory and Cognitive Plasticity in Mice and Has a Mild Effect on These Parameters in a Down Syndrome Mouse Model

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