Articles of the DS Medical Review

CLINICS AND PRACTICE. Trajectory and challenges of the Leisure Service. The first 25 years

CLINICS AND PRACTICE. Trajectory and challenges of the Leisure Service. The first 25 years

Whenever there are new challenges it is important to stop to consider their priorities.This year the Leisure Service of the Catalan Down's Syndrome Foundation celebrates itsfirst 25 years. Thus, a short review of the history of the Service will be presented andwhat this leisure concept means. It will also comment on how the individuals and thosearound them feel when the former want to start enjoying their free time, and what theprofessional propose to do as a response. The challenges and new concepts of the Servicewill be presented at the end of this article.

CASE REPORT. Marriage and reproduction in a woman with Down syndrome

CASE REPORT. Marriage and reproduction in a woman with Down syndrome

Sex life of people with Down syndrome (DS) or other conditions associated with intellectualdisability is still a taboo, with few reports in the literature. Advances in knowledge ofcausal and nosological aspects, including its social achievements, have led to thestrengthening of the inclusive movement aimed at those people. This paper presents anunusual case of successful marriage and reproduction of a woman with DS. The probandstudied in special schools and communicates well verbally. She presented menarche atage of 13, showing autonomy in caring for her body. Eight years ago she met her currenthusband at the special school she attended. Two years after the wedding, the probandbecame pregnant of a male child without the syndrome. She is able to take care of herchild needs, sharing this responsibility with her own mother, who was primarily responsiblefor her education directed towards autonomy. The proband’s karyotype revealed trisomy21 with chromosomal mosaicism. New social achievements are occurring, among themthe establishment of lasting emotional relationships. The reproductive chances and risksof recurrence of DS should be considered in genetic counseling. The breeding and rearing ofany children born from these marriages become new responsibilities shared by thesespecial parents and their families.

ORIGINAL REPORT. Down syndrome due to rare inherited 15/21 Robertsonian translocation: genetics and reproductive counseling

ORIGINAL REPORT. Down syndrome due to rare inherited 15/21 Robertsonian translocation: genetics and reproductive counseling

The carriers of a rearrangement involving with chromosome 21 have a potential risk ofgenetically unbalanced conceptions, which may result in liveborn children with Downsyndrome. Reproductive risks for couples carriers of a balanced Robertsonian translocationdepends on the rearranged chromosomes and the sex of the carrier. This article aims toanalyze the segregation and reproductive trend of a rare 15/21 translocation in fivegenerations of a family. It was considered the current advances in reproductive technologyas a possibility to prevent fetal aneuploidia. Given the genetic risk, the preimplantationdiagnosis appears also as an alternative to avoid the option of an unwanted later abortionand to obtain a healthy progeny.

ED. Dr. Pueschel and the Foundation

ED. Dr. Pueschel and the Foundation

Skills and social interaction of children with Down’s syndrome in regular education

Skills and social interaction of children with Down’s syndrome in regular education

Abstract.

This study identifies the process of social interaction of children with Down's syndrome(DS) in the regular educational system of a city in the interior of São Paulo, Brazil. Sixchildren aged from three to six years old participated in the study. Each child wasvideotaped in four situations of social interaction in two distinct environments (indoorsand outdoors), which enabled the analysis of interpersonal and self-expression skillsthrough the observation of 15 types of behaviors. The results reveal that the behaviortype "Interacts with another child", within the category "interpersonal skills", was themost frequent both indoors and outdoors with an average of 27.5 and 28.3, respectively.With regard to "selfexpressionskills", only the behavior "Smiles" had a considerablenumber of occurrences indoors with an average of 8.16, while the behaviors "Smiles" and"Imitates other children" presented significant occurrence outdoors with averages of5.16 and 3, respectively. The conclusion is that including children with DS in the regulareducational system promotes new forms of learning and interaction for them throughdaily contact with children with typical development, enabling them to acquire socialinteraction skills.

Down’s syndrome with abnormal inner ear: Is it suitable for cochlear implantation?

Down’s syndrome with abnormal inner ear: Is it suitable for cochlear implantation?

Abstract.

Hearing loss is a common problem in Down's syndrome (DS). The majority of thispopulation, up to 80%, are suffering from a conductive type hearing loss, whereasestimating 4-20% are due to sensorineural hearing loss. Over the years, the treatment ofprofound sensorineural hearing loss has been changed since the introduction of cochlearimplants. We report a case of a 4 years and 5 months old child with DS and low IntelligenceQuotient that had been referred to our centre for cochlear implants. In view of latereferral and multiple additional handicaps, with addition of having Larged VestibularAqueduct Syndrome (LVAS), bilateral incomplete partition of cochlear Type II andabnormal periventricular white matter, she had been rejected for cochlear implantation.

ORIGINAL. Hypothyroidism and Down’s syndrome

ORIGINAL. Hypothyroidism and Down’s syndrome

Abstract

Introduction: Subclinical hypothyroidism is common in the first years of life of childrenwith Down's syndrome (DS). The aim of this study was to analyse the natural evolution ofthis disease and to identify the factors that predict its spontaneous remission.

Material and methods: A retrospective, observational study conducted on patientswith DS and hypothyroidism diagnosed before 5 years of age, who were seen in a DSreference medical centre.Results: A total of 53 patients, 28 boys and 25 girls, with a mean age 2.4 ± 1.1 years,were identified with subclinical hypothyroidism. The hypothyroidism resolve spontaneouslyin 39 cases (73.6%), in a mean time of 13.2 ± 11.1 months, this resolution ratebeing significantly higher in the patients without goitre: 94.9% (95% confidence interval[CI]: 81.2-99.3%) vs 28.6% (95% CI: 4.4-37.7%), p < .05, and with negative antithyroidantibodies: 89.7% (95% CI: 74.6-96.2%), vs 42.9% (95% CI: 20.7–56%), p < .05).Fifteen patients (28.3%) were treated with levothyroxine.

Conclusions: The subclinical hypothyroidism that appears in early infancy in DS is usuallytransient. The absence of goitre and antibodies is associated with a higher spontaneousresolution rate.

EDITORIAL. A human rights issue

EDITORIAL. A human rights issue

Unusual cause of respiratory distress: Morgagni hernia associated to Down’s syndrome

Unusual cause of respiratory distress: Morgagni hernia associated to Down’s syndrome

Abstract.

Morgagni hernia (MH) is a rare diaphragmatic hernia with 2% rate of congenital diaphragmatic hernias. Is reported Down's syndrome (DS) the most common chromosomalanomaly. There is a wide range variation among individuals clinically by its characteristic features and associated systemic malformations. The coexistence of Morgagni hernia and DS is reported approximately 20%. A female patient with DS was admitted to emergency department for evaluation ofrecurrent pneumonia accompanied by persistent dry cough and fever. In the case theradiographic abnormality was actually found to be MH with intestinal loops in the rightthorax. We report this case to notify an asymptomatic association between DS and MH.

Maternal age: a controversial factor in trisomy 21

Maternal age: a controversial factor in trisomy 21

Abstract

Background: Down's syndrome (DS) is the most common autosomal aneuploidy in human beings and is characterized by a complex phenotype including characteristic facial features, skeletal appearance and it is most commonly diagnosed congenital malformation/mental retardation syndrome. Although advanced maternal age is a well established riskfactor for the etiology of DS, controversy over it still continues.

Objective: The study was carried out to find the effect of maternal age in the etiology oftrisomy-21.

Material and methods: Present study has been conducted on DS cases from various districts of Haryana State. DS cases were subjected to detailed morphological and cytogenetic analysis.

Results: In the present study more than eighty percent of DS children were born to young mother's of <35 years and less than twenty percent to mother's age >35 years. DS cases born to mother's of age less than 30 years were 69.5%. Mean age of mother was 29.5 years. Partial correlation coefficient between mother's age and number of DS cases (keeping father age constant) was calculated as r = 0.315.

Conclusion: Present study is not in favour of the effect of advanced maternal age on theoccurrence of DS child. It can be concluded that risk of DS cases is not only due to the advanced maternal age and some others factors (genetic and environmental) may beinvolved in the formation of a trisomic zygote. Future studies are required to investigate the various factors that regulate the segregation & recombination in humans.