Revista Médica Internacional sobre el Síndrome de Down最新文献

There is a scarcitiy of literature about Previable Premature Rupture of Membranes in Down Syndrome (DS) Pregnancies. The present report concerns the difficulty in prenatal counseling in a Previable Premature Rupture of Membranes in a DS Pregnancy. The outcome appears improved in our case.

We report the case of a DS Pregnancy with severe oligohydramnios since the 17th week of gestational age due to Previable Premature Rupture of Membranes. She delivered at the gestational age of 33 weeks and 3 days a healthy DS baby without signs or symptoms of neonatal pulmonary hypoplasia, skeletal abnormalities or infectious morbidity.

In Previable Premature Rupture of Membranes, fetal death is common. When a viable gestational age is reached, respiratory complications and other morbidities such as sepsis are frequent. Newborns with DS have an increased risk of respiratory tract infections, what added to the risk of congenital diseases, made us believe in a poor prognosis. More reports are needed in order to provide a better prenatal counselling.

Introduction

Postural control is considered the basis for the development of motor skills in people with Down syndrome (DS). Therefore, the analysis of postural control could guide the rehabilitation of these patients.

Objective

To analyze the postural control in children, adolescents and adults with DS. People with DS and typically developing (TD) were compared.

Material and methods

A case-control study. The sample was composed of 22 children aged 6 to 11 years old (10 DS, 12 TD), 23 adolescents between 12 and 18 years old (11 DS, 12 TD), and 24 young adults 19 and 25 years old (12 DS, 12 TD). Postural control was measured on a force platform in condition of open eyes and closed eyes where the center of pressure variables were calculated.

Results

No significant differences were observed in children. In adolescents and adults the center of pressure variables were significantly higher in the groups with DS in open eyes and closed eyes (P < .05). In people with DS there were no significant differences between children, adolescents and adults in any of the center of pressure variables. In people with TD significant differences when comparing children, adolescents and adults (P < .05).

Conclusions

Individuals with DS have a deficit of postural control and low development of this skill as the individual matures in age.

Introduction

In general population, the current trend is to make the diagnosis of Autism Spectrum Disorders (ASD) at an early stage, which it is crucial to improve the prognosis. In contrast, in Down syndrome (DS) population, the ASD diagnosis is frequently delayed, having negative consequences on the overall development of the children who suffer.

Objective

To identify ‘early warning signals’ for the detection of the ASD in DS in the first years of life (0 to 4 years).

Methods

Retrospective cohort study: SD with an ASD diagnosis (SD-ASD) and healthy-DS (SD-noASD) matched by sex and age. Early warning signals were identified and selected from different questionnaires for ASD of general population: 1. Lack of social smile; 2. Shared care foul; 3. Lack of finding comfort/protection; 4. Lack of complaint; 5. Little interest for the others; 6. No pointing; 7. Non-imitation; 8. Lack of babbling/vocalization; 9. Inappropriate facial expression; 10. Presence of rituals as repetitive actions or repetitive sentences; 11. Mannerisms hands/fingers; 12. Stereotypes; 13. Lack of interest sensory; and 14. Non-integration of the look.

Six investigators, who did not participate in the identification of the ‘early warning signals’, selected those that would guide a diagnosis of ASD (qualitative analysis).

Parents were asked for videos of people with DS in ‘activity’ between 0 and 4 years. The same investigators, blinded to the diagnosis of ASD and after watching the videos, scored the ‘early warning signals’ in three categories: presence / absence / non-evaluable (quantitative analysis).

Results

During the year 2013, 12 videos of 12 people with SD were obtained: 6 from SD-ASD group and 6 from the SD-noASD group. The qualitative analysis identified as early warning signals related to the diagnosis of ASD: ‘non-integration of the look’, ‘non-imitation’, ‘presence of rituals as repetitive actions or repetitive sentences’ and ‘stereotypies’, and the quantitative analysis: ‘shared care foul’ and ‘little interest for the others’.

Conclusion

Certain ‘warning signals’ may lead to a diagnosis of ASD in the first years of life in children with DS.

Background

Subjects with Down syndrome present hypotonia, stomatognathic alteration system, such as small oral cavity, macroglossia and malocclusions, may suggest a higher risk for temporomandibular disorders.

Aim

to evaluate the temporomandibular joint of Down syndrome subjects with, to verify temporomandibular disorders prevalence and possible postural associations.

Methods

Forty subjects was included in this study. Temporomandibular joint was evaluated across functional physical screening and questions about daily habits. After, the subjects was submitted a postural evaluation through photographic registers in front of a crisscross space.

Results

Most subjects was presented temporomandibular disorders (77.5%). The most common signs and symptoms found were bite alterations and parafunctional habits. Moreover, parafunctional habits and pain were positively correlated to temporomandibular disorder in these subjects (p = 0.038 and p = 0.016 respectively). Postural alterations were not significant correlation with temporomandibular disorder.

Conclusion

To verified a high prevalence of temporomandibular disorder and important relationship between parafunctional habits and pain in subjects with Down syndrome.

The present study investigated the use of parent training and parent-delivered narrative language intervention to increase narrative language comprehension and production in children with intellectual disability. Fourteen children with intellectual disability and their parents took part in the study. Parents participated in a live workshop to learn the methods for narrative language intervention and were provided with a packet of materials and two preselected books. After the session, they completed the training at home with their children over a period of 8 weeks. Children were pre tested and post tested for narrative language skills. Parents reported to the primary investigator weekly during the study and completed a survey following the conclusion of the intervention. Parents reported positive outcomes in that they gained knowledge of narrative language skills and were able to incorporate the materials provided and techniques learned to increase their child's language comprehension and production.

Background

The association between Down syndrome and Tuberous sclerosis (DS/TS) had been very rarely described. These two entities present in common overactivation of m-TOR system (mammalian target of rapamycin), which has been related to abnormal neuronal growth, abnormal synaptic transduction and overstimulation of neurotransmitters in different brain areas, among others, that are manifested in cognitive retardation and autistic symptoms.

Case summary

We present a girl with diagnosis of DS who debuted one early childhood with convulsive tonic-clonic seizures and hypopigmented skin plaques. A brain MRI which reported cortical tubers suggestive of TS. A subsequent echocardiogram showed the presence of multiple lesions suggestive of endomyocardial rhabdomyomas. Further medical checks showed spontaneous resolution of these cardiac lesions, but persistence of brain disorders. We also describe the refractoriness of the convulsive events despite appropriate treatment with multiple anticonvulsants.

Conclusions

Neurological and cardiac implications in patients with DS/TS association dealing a difficult therapeutic stage high rate of complications, in part due to refractory symptomatic. New drugs directed towards the signaling pathway m-TOR could be very useful in this scenario, as it relates to improvement of cognitive impairment and tumors associated with these two entities.

Objective

To compare the pulmonary function of young adults with Down syndrome (DS) with healthy subjects.

Method

Thirty-four young adults (17 with DS and 17 apparently healthy controls), aged 20–40, participated in this study. Anthropometric variables and lung function, namely forced expiratory volume in one second (FEV₁), forced vital capacity (FVC), peak expiratory flow (PEF), and the fraction of FVC expired in one second (FEV₁/FVC%), were assessed in both groups.

Results

The group of young adults with DS had a lower height and higher body mass index (31.4 ± 4.6 vs. 23.4 ± 1.3 kg/m², P < .001). As regards pulmonary function, the group of participants with DS showed significantly lower values for PEF (238.4 ± 89.4 vs. 387.4 ± 52.9 L/min, P ≤ .001), FVC (2.2 ± 0.7 vs. 3.1 ± 0.4 L, P ≤ .001) and FEV₁ (1.9 ± 0.6 vs. 3.1 ± 0.5 L, P ≤ .001), when compared to subjects of the control group. No changes were observed in FEV₁/FVC%. An inverse correlation was observed between the body mass index and the PEF (r = −0.691, P < .001), the FVC (r = −0.555, P = .001), and the FEV₁ (r = −0.617, P < .001).

Conclusion

Young adults with DS showed reduced pulmonary function in comparison to age-matched controls. Additionally, the pulmonary function was inversely correlated with body mass index.