INCLUSÃO DE CRIANÇAS COM SÍNDROME DE DOWN: UM ENSAIO TEÓRICO SOBRE A IMPORTÂNCIA DA RELAÇÃO FAMÍLIA-ESCOLA

Faced with the theme of inclusion, discussions about the importance of the family-school relationship are relevant with regard to the socialization of children with Down Syndrome. In this perspective, the main objective of this essay was to explore the scientific literature about the challenges faced by parents, family and teachers in the process of inclusion of children with Down syndrome. Specifically, this article sought to propose discussions on the importance of community awareness and collaboration to change the paradigm of inclusion. Therefore, scientific articles, books and academic papers found in the Google Scholar database were selected, between the period 2011 to 2021, based on the following keywords: People with disabilities; Down's syndrome; Inclusion; History of people with disabilities; Diagnosis of a child with a disability and; Family-School Relationship. Among the main factors influencing the inclusion process of children with Down's Syndrome, beliefs and stigmas of parents, family members, school professionals and society about the child's ability to deal with other people and learn, stand out. family support and the lack of support/guidance from an interdisciplinary team. The inclusion of people with disabilities still faces barriers and challenges that need to be overcome, however, through the active participation of the scientific community and political-social movements, studies on the theme of inclusion show that changes in this scenario have occurred gradually.

Subclinical Hypothyroidism as the Most Common Thyroid Dysfunction Status in Children With Down’s Syndrome

IntroductionThyroid dysfunctions are one of the most common abnormalities coexisting in children with Down’s syndrome (DS) and have been reported in up to 54% of cases.Aim of the StudyThe purposes of this retrospective study were to investigate the course of subclinical hypothyroidism in children with DS, to evaluate the thyroid function of these subjects in relation to the risk of developing overt thyroid disease and autoimmunity, and to identify clinical and biochemical characteristics of patients prescribed L-T4 therapy in children and adolescents with DS and SH.Material and MethodsThe records of DS patients referred to the Endocrinology Outpatient Clinic between 2010 and 2015 for screening of thyroid function were observed till the end of 2019 June and analyzed retrospectively. The children diagnosed with congenital hypothyroidism, acute lymphoblastic leukemia, and seizures and treated with drugs that may have interfered with thyroid function like lithium, antiepileptic, or iodinated drugs and glucocorticoids were excluded from the study.ResultsThe data of 77 DS patients were collected, evaluated, and analyzed. The study group consisted of 73 patients (32 girls and 41 boys with the mean age at baseline of 3.0 ± 4.5 years). A total of 63/73 (87%) children were diagnosed with SH. The 16/63 (25.4%) patients were followed-up without the treatment (group SH-T0), and therapy with levothyroxine (L-T4) was introduced in 47/63 (74.6%) SH children with a mean dosage of 1.8 ± 1.0 μg/kg/day (group SH-T1). Thyroxine supplementation did not improve growth expressed as ΔhSDS (0.1 ± 1.3, ranged −2.1 to 3.8 in SH-T0 vs. 0.0 ± 0.7, ranged −1.7 to 1.4 in SH-T1, p = 0.96) and ΔBMI Z-score (0.3 ± 0.9, ranged −0.9 to 2.6 in SH-T0 vs. 0.3 ± 1.1, ranged −2.1 to 2.9 in SH-T1, p = 0.65). Positive anti-TPO and anti-TG antibodies were detected in 7/63 (11.1%) DS cases.ConclusionsSH is the most frequent presentation of thyroid gland dysfunction in DS children. A small percentage of patients develop an overt hypothyroidism, particularly in females with mostly positive titer of antithyroid autoantibodies.

Osteosarcoma presenting as ludwig’s angina in a down’s syndrome patient: A case report

Individuals with Down's Syndrome are predisposed to leukaemia, possibly other malignancies, various infection as well as increased mortality from other causes. osteosarcoma has been linked to genetic illnesses such as hereditary retinoblastoma, Li-Fraumeni syndrome, and Rothman-Thomson syndrome, it has not been linked to Down syndrome. Treatment plan for osteosarcoma includes surgical resection with systemic chemotherapy. Osteosarcoma is highly resistant to radiotherapy. Here we present a 21 year old female patient which is a unique case of Osteosarcoma in Down’s Syndrome patient presenting as Ludwig’s Angina. This current report highlights a clinical presentation of Osteosarcoma in Down’s Syndrome.

Effect of Application of Different Exercise Intensities on Vitamin D and Parathormone in Children with Down’s Syndrome

Background. Children with Down’s syndrome are more liable to vitamin D deficiency. Treating this deficiency with supplements is associated with the risk of intoxication. Aim. The study is aimed at comparing the effect of two exercise intensities on the modulation of vitamin D and parathormone levels in children with DS. Methods. Forty-four DS male children aged from 8 to 12 years participated in the study. They were assigned randomly into two equal groups. Group I received high-intensity treadmill aerobic exercises, and group II received moderate-intensity T-AE, three times per week for three months. The blood samples were collected from both groups before the intervention, after one month of intervention, then after three months of intervention to assess serum 25(OH)D and PTH levels. Results. Repeated measure MANOVA revealed that the high-intensity T-AE induced a significant increase in 25(OH)D after one month and after three months while it significantly decreased PTH only after three months. Moderate-intensity T-AE had a nonsignificant effect on both hormones. Conclusion. The current study concluded that the high-intensity T-AE improved both vitamin D and parathormone serum levels after three months of intervention.

Parental consanguinity and congenital heart defects in Afghan children with Down’s syndrome

Background: It seems that parents’ consanguinity status effects the pattern of congenital heart defects (CHDs). In this study the CHD pattern in children with Down’s syndrome (DS) was determined in Afghanistan’s children population with a high consanguineous marriage rate and compared with historical cohorts from populations with low prevalence of parental consanguinity. Objective: This analytic cross sectional study aimed to determine the frequency and distribution of CHDs in Afghanistan children with Down’s Syndrome as a group in a community with a high consanguineous marriage rate and comparing these with different global studies and populations with low prevalence of consanguinity. Methods: This analytic cross sectional study was conducted in a pediatric teaching hospital in Kabul city - Afghanistan, named Maiwand Hospital. The subjects were all children with DS proven by clinical and cytogenetic study and referred to the pediatric cardiology service from September 2018–September 2020. Parents’ consanguinity was documented and 2D echocardiography and Doppler studies were performed by two experienced pediatric cardiologists after physical examination, ECG, and chest X-ray for each patient. Results: During the two-year study period, 120 DS patients were identified, 78 (65%) of whom had CHDs. The prevalence of isolated and multiple CHD in the 78 children with DS were 35% (42 patients) and 30% (36 patients), respectively. Ventricular septal defect (20.5%) and atrial septal defect (15.3%) were the most common isolated defects. The combination of VSD and PDA (20.5%) were the most frequent multiple CHDs. The most com­mon associations of CHD were VSD + PDA (20.5%) and VSD + ASD (10.2%). Consanguinity was found in 69.2 % of all parents. Conclusions: A higher frequency of CHD was documented in DS children from this population with a high consanguineous marriage rate. The frequencies of specific lesions were almost similar to those reported locally and internationally; VSD was the most frequently detected in this study. Interesting was the predominance of left-right shunt lesions and the relative rarity of cyanotic and complex CHD in this DS population. key words: congenital heart disease, atrioventricular septal defect, Down’s syndrome, trisomy 21, Afghanistan