International Medical Review on Down Syndrome最新文献

Background

Myelopathy is a condition that significantly impacts a person's mobility and independence. In people with intellectual disabilities, such as Down syndrome, the negative impact of myelopathy is magnified. Myelopathy in Down syndrome may be related to atlanto-axial instability or degenerative pathology. Our experience with these patients has led us to hypothesize that their myelopathy is commonly undiagnosed until very severe. In this study we seek to determine whether patients with Down syndrome present with more severe myelopathy than those without Down syndrome.

Methods

We performed a retrospective medical record review of patients with Down syndrome who were treated for myelopathy by the Tufts Neurosurgical Practice. Eight patients met the criteria and were graded for severity of myelopathy on the Nurick Scale. We compared the patients with cervical spondylotic myelopathy and Down syndrome to patients who were treated for cervical spondylotic myelopathy as reported in Furlan et al. and Fehlings et al.

Results

The average Nurick grade for patients with Down syndrome was 4.2 (SD 0.84, n = 5). The average Nurick grade as reported by Furlan et al. was 2.8 (SD 0.68, n = 81) and by Fehlings et al. was 3.14 (SD 0.97, n = 278). The independent samples t-test resulted in a P value < 0.000 and 0.016 with Furlan et al. and Fehlings et al. respectively.

Conclusions

The patients with Down syndrome in our study presented to neurosurgery with more severe myelopathy than patients without Down syndrome. It is important for physicians caring for people with Down syndrome to be aware of the presentation of myelopathy and consider the condition in the differential diagnosis of a Down syndrome patient with functional decline.

The clinical features of the skin and mucosa as well as the dermatological pathologies of patients with Down syndrome are sometimes chronic and difficult to treat. Intense xerosis and perioral dermatitis result in a therapeutic challenge for the specialist. Multidisciplinary and proactive management involving the family and the patient who is able to understand and follow routines are fundamental to avoid common complications such as superinfection. New cosmetic formulations that include active agents capable of protecting and restoring barrier function are helpful in avoiding comorbidities and excessive drug use. The authors perform a review of the main pathologies and specific conditions of the skin as well as the measures for its correct management.

Introduction

Down syndrome (DS) is the most frequent aneuploidy in the humans. Children with DS have a predisposition to obesity, and it is known that the phenotype of these individuals may lead to a bias in the use of the World Health Organization body mass index (WHO BMI).

Objectives

This study proposes the assessment of body composition in individuals with DS using the dual X-ray absorptiometry (DXA) technique, the current gold standard for comparison of its values with those found in general population.

Method

Data was collected randomly from patients, such as their BMI and body composition with the DXA machine Lunar Prodigy Advance^®, with their values compared to literature references and statistically analyzed with their WHO BMI z-score.

Results

45 individuals were analyzed, with a prevalence of 58% of girls, mean age of 11 years old and 35.5% were obese by WHO BMI z-score; 57.1% of the subgroup of eutrophic individuals with DS by WHO BMI had altered body composition values.

Conclusion

The WHO BMI z-score in patients with DS has a correspondence with the body composition only in individuals classified as overweight or obese by BMI z-score. It was concluded that BMI is not an appropriate tool to infer the body composition in children with DS.

Objective

Study of anthropometric values in the medical records of a representative group of paediatric patients with Down syndrome, from the Down syndrome Unit of the Paediatric Department of Valencia's Hospital Clínico Universitario, from 2000 to 2014.

Patients and methods

Descriptive observational study in a group of 140 patients between 1 and 13 years. The group was configured based on the inclusion and exclusion criteria. We extracted data about birth from their first visit, and subsequently patient data at the time of each visit (643 measurements).

Results

103 patients with regular trisomy of Down syndrome were recorded and studied. There were 59 (57%) boys and 44 (43%) girls. The records were then analysed and percentiles were calculated.

Discussion

The median was compared to that of percentiles from the Catalan Down Syndrome Foundation.

Conclusions

We present an observational study with anthropometric measurements of a group of Down syndrome children from Valencia. Measurements were lower than those of the WHO for the general population, but similar to those recorded by the Catalan Down Syndrome Foundation. The need to continue using customised Down syndrome percentiles is reaffirmed, with periodic review of these tables.

Morgagni's hernia is a rare type of congenital diaphragmatic hernia that constitutes less than 5% of congenital diaphragmatic defects. It is moderately associated with congenital anomalies, while it is rarely associated with Down's syndrome or trisomy 21. On the other hand, the incidence of anorectal malformations in patients with Down's syndrome is relatively frequent, with an incidence of from 0.36% to 2.7%. We present the case of a newborn baby with Down's syndrome and anorectal malformation without fistula, colostomised, which evolved with episodes of intestinal subocclusion. In the study of a second episode of constipation, with colonography through the colostomy, a Morgagni hernia was found and afterwards surgically resolved. The objective is to point out the rarity of the association between Down's syndrome, Morgagni hernia and anorectal malformation.

Introduction

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

Objective

To identify “early warning signs” for the detection of ASD in DS in the first years of life (0 to 4 years).

Methods

Retrospective cohort study: DS with an ASD diagnosis (DS-ASD) and healthy-DS (DS-noASD) matched by sex and age. Early warning signs were identified and selected from different questionnaires on ASD in the general population: 1. Lack of social smile; 2. lack of shared attention; 3. Lack of seeking comfort/protection; 4. Lack of complaint; 5. Little interest in others; 6. No pointing; 7. Absence of -imitation; 8. Lack of babbling/vocalisation; 9. Inappropriate facial expression; 10. Presence of rituals as repetitive actions or repetitive sentences; 11. Mannerisms hands/fingers; 12. Stereotypies; 13. Lack of sensory interest; and 14. Absence of gaze integration.

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 2013, 12 videos of 12 people with SD were obtained: 6 from the SD-ASD group and 6 from the SD-noASD group. The qualitative analysis identified as early warning signals related to the diagnosis of ASD: “Absence of gaze integration”, “absence of imitation”, “presence of rituals as repetitive actions or repetitive sentences” and “stereotypies”, and the quantitative analysis: “lack of shared attention” and “little interest in others”.

Conclusion

Certain “warning signs” may lead to a diagnosis of ASD in the first years of life in children with DS.

There is a scarcity of literature about Previable Premature Rupture of Membranes in Down Syndrome (DS) Pregnancies. The present report concerns the difficulty in prenatal counselling 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, foetal 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.