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D S INTERNATIONAL MEDICAL REVIEWON DOWN’S SYNDROME

Volume 17•Number 2

May-August

2013

Contents

Editorial

17 A human rights issue

K. Trias Trueta

Original article

18 Hypothyroidism and Down’s syndrome

C. Claret, J.M. Corretger and Albert Goday

Case report

25 Down's syndrome with abnormal inner ear: Is it suitablefor cochlear implantation?

H. Eyzawiah, A. Suraya and A. Asma

Clinics and practice

29 Skills and social interaction of children withDown’s syndrome in regular education

R. Valdívia Lucisano, L.I. Pfeifer, M.P. Panuncio-Pinto,

J.L. Ferreira Santos and P.P. Gomes Anhão

www.elsevier.es/sd

INTERNATIONAL

MEDICAL REVIEW ON

DOWN’S SYNDROMESD

ISSN: 1138-011X

www.fcsd.org


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FUNDACIÓ CATALANA SÍNDROME DE DOWN21

INTERNATIONAL

MEDICAL REVIEW ON

DOW'N SYNDROME

SDEditorial Committee

Edi tor : Josep M. CorretgerEditor- in-Chief : Agustí SerésEdi t or ia l and Coordinat ion: Katy Trias Trueta

Medical Advisers

F. Ballesta MartínezM. Cruz Hernández

J. Moreno HernandoS. M. Pueschel (USA)

Psycho-pedagogy advisers

FCSD TeamJ. M. JarqueT. VilàL. Brown (USA)

Editorial Secretary

Mar Cabezas

The aim of SD REVISTA MÉDICA INTERNACIONAL SOBRE EL SÍNDROME DE DOWN (INTERNATIONAL MEDICAL JOURNAL ON DOWN’S SYNDROME) is, on the one hand, to gather cur-rent knowledge on the medical aspects of Down’s Syndrome, and to continuously review and update this, from the most promising advancesin basic sciences, such as molecular biology and genetics, to daily clinical practice; and on the other hand, to look at those psychopedagogicalaspects, that, due to their relationship with the medical eld ,could be of practical interest for general and specialist paediatricians associated

with Down’s Syndrome. SD will consider publishing clinical or research articles associated with all branches of Down’s Syndrome.

Scientifc Committee

Cardiology: J. CasaldàligaDermatology: J. FerrandoDietet ics-nut r i t ion: N. EgeaEndocrinology: A. GodayMaxi l lof ac ia l Surgery : A. MonnerGenet ics: A. SerésGeriat r ics : C. Farriols

Gynaecology:

J. CararachGenera l Medi cine: A. GarnachoChild Neurology: A. NascimentoAdult Neurology: S. FernándezDent is t r y and Ort hodont i cs: M. A. MayoralChild Ophthal mology: A. GalánAdult Ophthal mology: J. Puig, S. SimónEar, Nose and T hroat : J. DomènechPaediatr ics: J. M. Corretger, M. HernándezPsychology: B. GarvíaPsychiatry: J. BarbaTraumat ology and Ort hopaedics: F. Torner

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No responsibility is assumed by the Publisher or theCatalonian Down’s Syndrome Foundation (FCSD) forany injury and/or damage to persons or property as amatter of products liability, negligence or otherwise,or from any use or operation of any methods, pro-ducts, instructions or ideas contained in the mate-rial herein. Because of rapid advances in the medicalsciences, in particular, independent verication ofdiagnoses and drug dosages should be made.

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Rev Med Int Sindr Down. 2013;17(2):17

1138-011X/$ - see front matter © 2013 Fundació Catalana Síndrome de Down. Published by Elsevier España, S.L. All rights reserved.

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INTERNATIONAL

MEDICAL REVIEW

ON DOWN’S SYNDROME

www.elsevier.es/sd

EDITORIAL

A human rights issue

K. Trias Trueta

General Director, Fundació Catalana Síndrome de Down, Barcelona, Spain

When a nancial crisis arrives accompanied by a crisis of

values as important as the one we are living in today, there

are many questions we must ask in order to optimise avai-

lable resources.

The demands of society make the priorities clear. How-

ever, the cut-backs affect the most basic needs of the civil

society and, it is precisely the civil society that is “leading”

it, as the Universal Declaration of Human Rights proclaims,

the defence of the respect for the inherent dignity of all

members of the human family and the equal and inaliena-

ble rights for all that constitute the foundation of free-dom, justice and peace in the world.

To raise awareness of the rights of people with disabili-

ties has been a constant concern of the Foundation. From

the beginning we realised that, to create the conditions so

that people with intellectual disabilities should be in, and

live in, a situation of real equality like the rest of the popu-

lation, where their opinion counts, was a question of human

rights.

The Commissioner for Human Rights, Thomas Ham-

marberg, highlighted that people with intellectual disabili-

ties should not be deprived of their individual rights. Thus

they must be given more support so that they can exercise

their rights, and other types of support that gives them

equal opportunities to create their life projects.

We have opened a series of training and mutual skills

spaces on human rights for young people and adults who

increasingly feel like citizens in their own right. Because to

speak about human rights simply means accompanying and

helping to reflect on our role in society. To help put our

particular situation in the world into context, to be aware

of other realities −difficult and complicated− that also co-

exist with us. A diverse society requires that its members

are educated in human rights in order to help build a better

society, based on fraternity, solidarity and equality.

Knowledge provides us with the means to develop a more

coherent discourse on our needs and, thus, to give more con-

fidence to the parents, caregivers, guardians or therapists

due their yearnings for independence. The interest of the

individual must be taken into account and to make the most

of their level of maturity and understanding, whatever it is.

And when the skills of the individual are not sufficient −due

to not being able to assess danger and the protection of theirsafety−, their rights will have to be defended by their repre-

sentatives, but always trying to involve the individual to take

part. To work for individuality of the person involves helping

them understand better so that they can grow with personal

security and develop their own opinion that will enable them

to make decisions to achieve their life projects. Hence the

importance of a service like that of an Independent Life of -

fered by the Foundation, in which its principles are based

on making these projects a reality, and where the secret is

the support that, besides being individualised and respect-

ful to the person, must be based on accompanying to ensure

that it is the centre of all planning.

Because to accompany is not to walk instead of the other,

nor to advance it, however good is the intention. To accom-

pany is to support, to know how to act so that the individu-

al advances and progresses. It is not to teach how to live,

but to help to live. We all learn from one another.

We have self-managing groups in the Foundation that

meet to debate and defend their rights. We have created

the EXIT21 blog as a platform to give them a voice and to

announce their decisions.


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Rev Med Int Sindr Down. 2013;17(2):18-24


www.fcsd.org

INTERNATIONAL

MEDICAL REVIEW


www.elsevier.es/sd

ORIGINAL

Hypothyroidism and Down’s syndrome

C. Claret a,b,*, J.M. Corretger c and A. Goday a,b,c

a Servicio de Endocrinología, Hospital del Mar, Barcelona, Spainb Departamento de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain

c Centre Mèdic Down, Fundació Catalana Síndrome de Down, Barcelona, Spain

KEYWORDS

Hypothyroidism;

Down’s syndrome;

Thyroids;

Infancy;

Subclinical

Abstract

Introduction: Subclinical hypothyroidism is common in the rst 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 identied with subclinical hypothyroidism. The hypothyroidism resolve sponta-

neously in 39 cases (73.6%), in a mean time of 13.2 ± 11.1 months, this resolution ratebeing signicantly higher in the patients without goitre: 94.9% (95% condence inter-val [CI]: 81.2-99.3%) vs 28.6% (95% CI: 4.4-37.7%), p < .05, and with negative anti-thyroid antibodies: 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 usu-ally transient. The absence of goitre and antibodies is associated with a higher spon-taneous resolution rate.

Received on May 20, 2013; accepted on June 28, 2013It has been published the research study that led to

the awarding of the prize27.* Correspondence author.E-mail: [email protected] (C. Claret).


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Hypothyroidism and Down’s syndrome 19

Introduction

The prevalence of medical disorders in individuals withDown’s syndrome (DS) is higher than in the general popula-tion, and has a negative impact on their quality of life andlife expectancy. Thyroid disease features prominentlyamong these medical problems. Both hyper– and hypothyroi-dism, mainly of autoimmune origin, occur more often in

DS1-3

, the latter being 6 times more common than the for-mer4,5.

As well as the increased risk of developing hypothyroid-ism with age2,6, children with DS have a higher probability ofpresenting with two other thyroid problems in their firstmonths of life: congenital hypothyroidism7, which can beeasily detected by neonatal screening, and, more frequent-ly, an isolated mild increase in thyrotropin (TSH) or sub-clinical hypothyroidism8,9). This latter disorder is usuallytransient and rarely progresses to clinical stages, and nor-mally self-resolves without the need for treatment10,11. Butthere are few systematic studies on this disorder, and thefactors associated with this self-resolution are not clear.There are also doubts on the possible benefits of hormonaltreatment on the development of these patients, despite itbeing a subclinical, and even transient, disorder. In thissense, the results of a double-blind randomised clinical trialwith 196 children with DS were innovative compared to pre-vious studies. Based on the theory that all subjects with DSare slightly hypothyroid at birth12,13, this study evaluatedthe effect of systematic treatment with levothyroxinestarted in the neonatal period and during the first two yearsof life, compared with placebo. The treatment with levo-thyroxine showed a slight improvement in psychomotor de-velopment and somatic growth at 24 months, and thus con-cluded that hormonal treatment should be considered inneonates with DS to obtain optimal development and

growth14.

The primary aim of the current study is to characteriseand analyse the progression of the hypothyroidism diag-nosed in a population of children under 5 years-old with DS,and to determine the main factors that predict the sponta-neous resolution of the disorder.

Material and methods

Patients

A retrospective study was conducted on a clinical series ofpatients with DS and hypothyroidism. The data were collec-ted by reviewing the clinical histories of patients with DSfrom the Fundació Catalana Síndrome de Down (FCSD), re-gistered between 1993 and 2008. The FCSD, established in1984, is a non-prot organisation that has as its aim to pro-mote the full development of subjects with DS in Catalonia.It provides support to patients from prenatal diagnosis toadulthood, but does not have a complete populational re-cord of all patients with DS. The medical program of theFoundation includes the annual systematic screening forthyroid diseases, including the annual determination ofTSH. The FCSD data base was analysed, and all patientswith hypothyroidism were identied, whether it was clini-cal (elevated TSH with decreased levels of total triio-dothyronine (TT3) and/or free thyroxine (FT4), or subclini-cal (elevated TSH with normal TT3 and FT4 levels). Allpatients were less than 5 years-old at the time of diagnosis,and had been assessed by the same endocrinologist.

Clinical data

Among the variables collected from the clinical historiesincluded: age when diagnosed with hypothyroidism, sex,

the presence of thyroid disease in the family history, the

PALABRAS CLAVE

Hipotiroidismo;

Síndrome de Down;

Tiroides;

Infancia;

Subclínico

Hipotiroidismo y síndrome de Down

Resumen

Introducción: el hipotiroidismo subclínico es frecuente en los primeros años de vida delos niños con síndrome de Down (SD). El objetivo del estudio fue analizar la evoluciónnatural de esta patología identicando los factores que predicen su remisiónespontánea.Material y métodos: estudio observacional retrospectivo sobre pacientes con SD ehipotiroidismo diagnosticado antes de los 5 años de edad, atendidos en un centromédico de referencia para SD.Resultados: se identicó a 53 pacientes con hipotiroidismo subclínico, 28 niños y25 niñas, con una media de edad de 2,4 ± 1,1 años. El hipotiroidismo se resolvióespontáneamente en 39 casos (73,6%), en un tiempo medio de 13,2 ± 11,1 meses, y latasa de resolución fue signicativamente superior en los pacientes sin bocio: 94,9%(intervalo de conanza [IC] del 95%: 81,2-99,3%) frente a 28,6% (IC del 95%: 4,4-37,7%),

p < 0,05, y con anticuerpos antitiroideos negativos: 89,7% (IC del 95%: 74,6-96,2%)frente a 42,9% (IC del 95%: 20,7-56%), p < 0,05. Un total de 15 pacientes (28,3%) fuerontratados con levotiroxina.Conclusiones: el hipotiroidismo subclínico que aparece en la primera infancia en el SD

suele ser transitorio. La ausencia de bocio y anticuerpos se asocia a una mayor tasa deresolución espontánea.


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20 C. Claret et al

genetic variation associated with the DS, and associatedmedical disorders. The signs and symptoms of thehypothyroidism on diagnosis, and in the follow-up were re-corded, using the score on a scale validated by Billewicz15.This scale adds or subtracts points depending on the pre-sence or absence of various signs and symptoms. Individuals

with hypothyroidism usually score over +29 and theeuthyroids less than −4. Scores between −4 and +29 are con-sidered indeterminate. We determined the presence andgrade of goitre at diagnosis and during follow-up. The re-cord of signs and symptoms was made by looking at the la-boratory results, with their interpretation not being blind.

Anthropometric measurements

Weight and length/height at diagnosis was obtained by di-rect measurement in light clothes and without footwear,along with the percentiles corresponding to the Spanish po-pulation with DS16, and the evolution of these parameters inthe two years following the diagnosis. The body mass index

(BMI) was calculated for the patients over 2 years-old.

Laboratory data

The laboratory data included the determination of TSH, FT4and TT3, as well as anti-peroxidase (anti-TPO) and anti-thyroglobulin (anti-Tg) antibodies. The reference intervalof TSH differed according to the age of the patient: 0.01-5.5 µU/mL (6 months-4 years), and 0.57-4.13 µ/mL(4-7 years). We recorded whether the TT3 and FT4 werenormal, elevated or decreased according to the normal in-tervals related to the age. The reference interval for FT4was: 0.89-1.87 ng/dL (6 months-4 years) and 0.96-1.86 ng/

dL (4-7 years). The reference interval for TT3 was 0.75-2.05 ng/dL (6 months-4 years) and 1-1.78 ng/dL (4-7 years).

Similarly, whether the antibodies were positive or nega-tive was also determined as a categorical variable.

Resolution and treatment dose

The remission of hypothyroidism was dened as the returnof the TSH levels to normal without the need to start hor-mone treatment, or at least after having stopped it for12 months. The time passed until the resolution and theassociated factors were determined.

The criteria that the endocrinologist had used to starthormone replacement treatment were to have a TSH ≥10 µ/mL, a decrease in peripheral hormones T3 and/or T4,or due to the indication of cardiac surgery, given the impor-tance of achieving a strictly normal thyroid function in thissituation.

For the cases on treatment with levothyroxine, the meaninitial dose and that during follow-up according to age andsex (total and per kg weight) were recorded, as well as theannual changes in these doses.

Statistical analysis

The differences between groups were analysed using the χ2 test for the categorical variables, the independent samples

t test for continuous variables with a normal distribution,

and the Mann-Whitney U test for the variables that did notfollow a normal distribution (TSH, FT4 and TT3). The resultsare presented as means ± SD and percentages with CI. Weconsidered the signicance level as p < .05. The analyseswere performed using the Statistical Package for SocialSciences version 17.0 (SPSS Inc., Chicago, IL).

The study was approved by the FCSD Clinical ResearchEthics Committee.

Results

Baseline characteristics

Out of a total of 1903 clinical histories from the FCSD,149 patients were identied with an alteration in thyroidfunction, which is a prevalence of 7.8% (95% CI: 6.6-9%),12 of them with hyperthyroidism3, and 137 with hypothyroi-dism (g. 1). Of the 137 patients with hypothyroidism, 54(28 boys and 25 girls) were diagnosed before 5 years of age;

1 of them had clinical hypothyroidism with a low FT4, whilethe remaining 53 fullled the criteria of subclinicalhypothyroidism, and were included in the study. The follow-up time was 54 ± 19 months. The mean age was 2.4 ±1.1 years. Table 1 shows the baseline characteristics at thetime of diagnosis.

There was a family history of thyroid disease in 13 pa-tients (24.5%; 95% CI: 12.3-37.7%), multinodular goitre andhypothyroidism in the majority of the cases, with a predom-inance of the maternal line. Karyotype analysis was availablein all cases, which confirmed trisomy 21 as the most commongenetic abnormality (n = 48, 90.5% [95% CI: 80.5-97.3%]),followed by mosaicism (n = 4, 7.5% [95% CI: 0.4-14.4%]) and

14/21 translocation (n = 2, 3.7% [95% CI: −1.3-8.7%]). Therewas a high prevalence of concomitant medical disease, par-ticularly congenital heart diseases, which affected 23 cases(43.4% [95% CI: 29-56.2%]).

Signs and symptoms

A total of 19 patients (35.8% [95% CI: 22.4-47.9%]) had somesymptom or sign of hypothyroidism on diagnosis. The mostfrequent symptoms described were, constipation (23.6%),rough, dry or cold skin (22.1%), and weight increase (11.1%).Other, less frequent, symptoms were: intolerance to cold,decrease in sweating, asthenia, hearing loss, or drowsiness.The mean score on the Billewicz scale was −13.9 ± 11.9(non-specic). There were no differences in the mean va-lues of TSH between the patients with and without symp-toms (mean 8.2 ± 2.9 µU/ml vs 8 ± 2.8 µU/ml, respectively,

p = .5). The neck examination showed the presence of goi-tre in 12 cases (22.6% [95% CI: 15.2-65%]), which, in themajority of cases (91.7%), was of low grade (Grade I).

Anthropometric data

The mean weight percentile compared to the Spanish popu-lation with DS was 55 ± 24.2 at the time of diagnosis, and amean length/height percentile of 45.7 ± 26.6. The BMI atdiagnosis, excluding patients less than 2 years-old, was 16.5

± 1.3, with a mean percentile BMI compared to the general


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Spanish population of 59.3 ± 31.2. The percentage ofoverweight patients at the time of the diagnosis was 22.9%(95% CI: 9.1-37%), and there was 11.4% with obesity (95% CI:0.6-21.4%).

There were no significant differences between the2 groups in the initial weight and length/height percentiles,nor at one year or two years of onset.

Laboratory data and rate of resolution

The mean TSH at diagnosis was 8 ± 2.8 µU/ml. The subclini-cal hypothyroidism was resolved in 39 of the 53 cases (73.6%[95% CI: 61.7-85.4%]), spontaneously in 35 patients, andafter withdrawing the levothyroxine medication in 4 cases.The mean time required for the resolution was 13.2 ±11.1 months from the diagnosis. The majority of these ca-ses were resolved between 4 and 5 years (g. 2). No patientprogressed to clinical hypothyroidism during the observa-tion period. In the group in which the hypothyroidism resol-ved, the mean TSH in the last recorded visit was 3.6 ±1.9 µU/ml, and the age was 6.8 ± 1.4 years.

Twelve cases (22.6% [95% CI: 11.4-33.9%]), had positiveanti-TPO and/or anti-Tg antibodies at diagnosis or duringthe follow-up.

The factors significantly associated to the resolution ofthe hypothyroidism were the absence of goitre and antithy-roid antibodies at diagnosis and during follow-up. Other

factors analysed, but had no significant association were,

Figure 1 Flow diagram of all the patients with Down’s syndrome and hypothyroidism from the Fundació Catalana Síndrome de

Down data base.

Table 1 Baseline characteristics of the patients with

Down’s syndrome and subclinical hypothyroidism diagnose

before 5 years of age

n 53

Age (years) 2,4 ± 1,1

Sex (M/F) n 28/25

Family history of thyroid disease

n (%)

13 (24,5%)

Karyotype: trisomy 21 n (%) 48 (90,5%)

Congenital heart disease n (%) 23 (43,4%)

Hypothyroidism symptoms/signs n (%) 19 (35,8%)

Weight (percentile according to the Spanish

Population with DS)

55 ± 24,2

Length/height (percentile according to the

Spanish Population with DS)

45,7 ± 26,6

TSH (µU/mL) 8 ± 2,8

Positive TPO and Tg antibodies n (%) 12 (22,6%)

DS: Down’s syndrome; Tg: anti-thyroglobulin; TPO: anti-thyroidperoxidase.

Treatment continued during follow-up

n = 10

Treatment stoppedduring follow-up

n = 4

Subclinical hypothyroidism resolvedn = 39

Subclinicalhypothyroidism resolved

during follow-upn = 35

Subclinicalhypothyroidism persisted

during follow-upn = 4

Treatedn = 14

Untreatedn = 39

Subclinical Hypothyroidismn = 53

Clinical Hypothyroidismn = 1

Total subjects with DSn = 1.903

Thyroid dysfunctionn = 149

Diagnosed at < 5 yearsn = 54

Hyperthyroidismn = 12

Hypothyroidismn = 137


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22 C. Claret et al

age, sex, family history, absence of symptoms, and themean TSH at diagnosis (table 2). When goitre was absent,the resolution rate was 94.9% (95% CI: 81.2-99.3%), while ifit was present, the hypothyroidism resolved in 28.6% of thepatients (95% CI: 4.4-37.7%) ( p < .05). The resolution ratewas 89.7% (95% IC: 74.6-96.2%) in the group with negativeantithyroid antibodies, while it was 42.9% (95% CI: 20.7-56%) ( p < .05), in the group with positive antithyroid anti-bodies.

Treatment

A total of 15 (28.3%) patients received treatment with le-vothyroxine. In the majority of cases, the reason that indi-cated treatment was a TSH higher than 10 µU/mL (in 1 case

there was a decrease in peripheral hormones, and 1 caserequired cardiac surgery due to a congenital heart defect.The mean age at the start of treatment was 4.4 ± 3 years,and the mean TSH was 10.9 ± 1.3 µU/ml. The mean initialdose of levothyroxine per kilogram was 1 ± 0.4 µg/kg/day(1.1 ± 0.3 µg/kg in boys and 0.9 ± 0.5 µg/kg in girls).

Discussion

In the present study it has been observed that thehypothyroidism characteristic of early infancy in DS usuallypresents as a subclinical disorder. The distribution of thedisorder in this initial stage is similar between sexes, whichcontrasts with that which occurs in the population withoutDS, where the hypothyroidism is clearly predominant in thefemale sex17-20. The majority of cases are resolved withouttreatment, and the persistence or progression to clinicalstages appears to be linked to the presence of autoimmunefactors.

The cause of subclinical hypothyroidism in the first yearsof life of DS patients is not clear. Among the different hy-potheses are that it is due to, a local peripheral defect inthe production or action of T39, thyroid insensitivity toTSH10,11, or an inadequate secretion, or less active TSH atcentral level, although in some studies the bioactivityof the TSH molecule appears to be normal in these pa-tients21,22. The findings by Karlsson indicated that autoim-munity did not seem to play an essential role in this disor-der, although this normally appears later on, at schoolage17. Van Trotsenburg suggested that virtually all individu-als with DS had a congenital defect in the regulation at thelevel of the thyroid gland itself, which would be in a direct

relationship with the trisomy state of chromosome 21. Thisapproach is the result of a longitudinal study conducted on97 neonates with DS, who were followed-up until up to 26months of age. The results showed that the distribution ofthe TSH and FT4 values were normal or Gaussian, but dis-

Figure 2 Hypothyroid remission according to age interval.

Table 2 Factors associated with the remission of the subclinical hypothyroidism

Hypothyroidism

remission

Hypothyroidism

persistence p

n (%) 39 (73,6%) 14 (26,4%) −

Mean age at diagnosis (years) 2,5 ± 1,1 2,3 ± 1,2 0,95

Mean age at the last recorded visit (years) 6,8 ± 1,4 6,6 ± 1,4 0,67

Sex (% girls) 47,4% 50% 0,29

Family history of thyroid disease n (%) 8 (20,5%) 5 (35,7%) 0,33

Hypothyroidism symptoms/signs n (%) 11 (28,2%) 8 (28,6%) 0,72

Mean TSH at diagnosis (µU/ml) 3,6 ± 1,9 9,1 ± 3,5 0,13

Absence of goitre n (%) 37 (94,9%) 4 (28,6%) < 0,05

Negative TPO/Tg antibodies n (%) 35 (89,7%) 6 (42,9%) < 0,05

Tg: anti-thyroglobulin; TPO: thyroid peroxidase antibody; TSH: thyrotropin.

100

90

80

70

60

50

40

30

20

10

00-1 year 1-2 years

12.2

25.5

40.3

53

72.2

2-3 years 3-4 years 4-5 years

Resolved Cases (%) Unresolved Cases (%)


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placed to the right and to the left, respectively12. Along thesame lines, another recently published study also showedthat the TSH levels in neonates with DS were higher thanthose in the control group, particularly in the males23.

In these cases of subclinical hypothyroidism detected inthese initial stages, the most usual approach consisted of

performing an analytical follow-up with no initial therapeu-tic intervention, given its frequent remission24. The longitu-dinal study by Gibson showed that only one of the 20 casesof children with DS and an isolated increase in TSH devel-oped clinical hypothyroidism in a second hormone determi-nation performed 4-6 years later. Furthermore, the TSHreturned to normal in the majority of patients in a shortperiod of time10. Similarly, in our study only 1 patient haddecreased T3 and T4, and the disorder resolved spontane-ously in the majority of cases.

The presence of goitre or antibodies suggests the devel-opment of an autoimmune thyroiditis process, of such a dif-ferent nature to the hypothyroidism observed in the major-ity of these children17. Rubello demonstrated that, in

patients with subclinical hypothyroidism and positive anti-bodies, the possibilities of developing frank hypothyroidismin the follow-up are much higher than in those with nega-tive antibodies6. The absence of goitre and antibodies arefactors that predicted a higher probability of hypothyroid-ism remission in our study.

It has been postulated that subclinical hypothyroidismcan be an added factor that could contribute to the growthdelay in these patients, or could have an effect on the intel-lectual development, aggravating the mental retardationcommon to DS. The results of previous studies on this aspectare variable. Papendieck was unable to demonstrate thatpatients with DS and an elevated TSH had abnormal growth

or improved with thyroid hormone treatment1

. Anotherstudy could not find any differences either, when comparingthe growth and intellectual development of children withcompensated (subclinical) hypothyroidism with a controlgroup with normal thyroid function11. On the other hand, ina longitudinal study by Karlsson, the children with hypothy-roidism, in the year before starting treatment with FT4, hada lower growth rate compared to euthyroid children with DSof the same age and sex (controls), and this growth rateimproved during the first year of treatment17. Also, the re-sults of the trial by van Trotsenburg encouraged early treat-ment in the neonatal stage, considering that all individualswith DS are slightly hypothyroid at birth14. But, although thetreated group of neonates showed an improvement in de-velopment at 2 years compared with the group treated withplacebo, it has to be said that these differences were slightand probably of limited clinical relevance, particularlythose referring to somatic growth. In our study, we did notobserve any differences as regards the growth curves be-tween treated and untreated children, although it has to betaken into account that the weight and height percentilesare not a good indicator of the possible effectiveness of thetreatment on growth, and that the analysis of these varia-bles are only limited to a period of 2 years.

We attempted to apply a systematic signs and symptomsscore scale to the patients15; this correlation method is oflittle practical use, given that the mean score on the scale

was negative, which is to say, non-specific. It should be

taken into account that almost all these cases are diag-nosed in the early stages of thyroid hypofunction, in theory,before the symptoms appear. This means that the clinicalsigns may not be of much value for the diagnosis, even incases of very high TSH, and a T4 below the normal limit25.Effectively, our only patient with a decrease in T3 and T4

did not present with symptoms of hypothyroidism. Besides,the symptoms of hypothyroidism are very non-specific dueto the overlap with those common to DS26.

The limitations of the present study are mainly due to itsobservational and retrospective design, and the absence ofa control group. The number of cases is relatively small,and we have no data available on the psychomotor develop-ment of the patients studied.

In conclusion, hypothyroidism in the first years of life inpatients with DS is shown as a subclinical and mainly tran-sient disorder, with the principal predictive factors of spon-taneous remission being the absence of goitre and anti-thy-roid antibodies.

Acknowledgements

To Reyes Alcoverro, Secretary of the FCSD, on helping uswith the task of collecting data for the study.

Conict of interests

Authors declare not to have any conict of interests.

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11/20



www.fcsd.org

INTERNATIONAL

MEDICAL REVIEW


www.elsevier.es/sd

CASE REPORT

Down’s syndrome with abnormal inner ear: Is it suitable

for cochlear implantation?

H. Eyzawiah a,*, A. Suraya b and A. Asma c

a

Department of Otorhinolaryngology Head & Neck Surgery, Faculty of Medicine, University Kebangsaan Malaysia, KualaLumpur, Malaysia. Otorhinolaryngology and Head & Neck Surgery Unit, Faculty of Medicine and Health Sciences,

University Sains Islam Malaysia, Malaysiab Department of Radiology, Faculty of Medicine, University Kebangsaan Malaysia, Kuala Lumpur, Malaysiac Department of Otorhinolaryngology Head & Neck Surgery, Faculty of Medicine, University Kebangsaan Malaysia, KualaLumpur, Malaysia

KEYWORDS

Down’s syndrome;

Hearing loss;

Cochlear implant;

Large vestibular

aqueduct syndrome

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 Intelligence

Quotient 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.

Received on November 15, 2011; accepted on June 26, 2013* Correspondence author.E-mail: [email protected] (H. Eyzawiah).

PALABRAS CLAVE

Síndrome de Down;

Hipoacusia;

Implante coclear;

Síndrome del

acueducto vestibulardilatado

Síndrome de Down con oído interno anómalo: ¿es apto para un implante coclear?

Resumen

La hipoacusia es un problema frecuente en el síndrome de Down (SD). La mayoría de estapoblación, hasta un 80%, sufre hipoacusia conductiva, mientras que el 4-20%, según las

estimaciones, corresponde a hipoacusia neurosensorial. A lo largo de los años, el trata-miento de la hipoacusia neurosensorial profunda ha cambiado desde la introducción delos implantes cocleares. Presentamos el caso de una niña de 4 años y 5 meses de edadcon SD y un bajo cociente intelectual, que fue remitida a nuestro centro para ser some-tida a implantes cocleares. En vista de la derivación tardía y las múltiples discapacidadesadicionales, además de la presencia de síndrome del acueducto vestibular dilatado(SAVD), partición incompleta bilateral coclear de tipo II y sustancia blanca periventricu-lar anómala, no se consideró adecuado el implante coclear.


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26 H. Eyzawiah et al

Introduction

Down’s syndrome (DS) is the most common genetic disorder,occurring in approximately 1:800 live births. Children withDS have altered head and neck structure that results in in-creased otologic, upper airway, and sinonasal disease. Bet-

ween 38% and 78% of peoples with DS have abnormalities ofthe external, middle and inner ear have been described,which contribute to the hearing loss in these individuals1.Out of this, over 80% of the hearing loss is conductive andthis is due to otitis media with effusion, therefore amena-ble to medical and surgical intervention2. However, 4 to 20%of hearing loss in this population is due to sensorineuralhearing loss3. It was initially thought that individuals withadditional disabilities and learning disabilities were not sui-table candidates for implantation, but with a growing bodyof knowledge and good results, inclusion criteria are expan-ding and increasing numbers of such candidates have beenimplanted. Many of these individuals, especially those im-planted at a young age, do remarkably well due to preser-

vation of the spiral ganglion and successful post operativehabilitation.

Clinical presentation

A child with DS and global developmental delay was refe-rred to our centre at 4 years and 5 months of age for audio-logical assessment as a potential candidate for cochlearimplant. The child was diagnosed to have prelingual bilate-ral hearing loss at 4 months of age and bilateral middle eareffusion. Auditory brainstem recordings conrmed a pro-found sensorineural hearing loss on the right and moderate

to severe hearing loss on the left ear when she was 5 monthsof age. However, the myringotomy with ventilation tube in-sertion was performed only at the age of 1 year 4 monthsold and postoperatively, she has been tted with hearing

aid bianaurally. However the usage of hearing aid was in-consistent until 4 years old. At the age of 2 years, serial ofre-programming and optimization of hearing aid were per-formed, however the result of aided response evaluation

showed the hearing aid was under amplication. She had a

trial of consistent hearing aid for about 5 months, howeverthere was no benet. She was then referred for considera-tion of cochlear implant.

High Resolution Computed Tomography ( HRCT) imagingof the temporal bone performed at 4 years and 9 months of

age revealed a large vestibular aqueducts bilaterally (fig.1A) and bilateral incomplete partition of cochlear Type II(fig. 2). There was also fluid within mastoid air cells, bothmiddle ears and both epitympanic spaces.

The magnetic resonance imaging (MRI) demonstrated anenlarged endolymphatic sacs bilaterally (fig. 1B) with nor-mal 7th and 8th nerves, internal auditory canal, vestibulesand semicircular canal. There are multiple dilated periven-tricular region in both temporal and parietal lobes likelyrepresents incomplete myelination and steep straight sinuswith absent sagittal suture (not well demonstrated in MRI)suggestive of brachicephaly (fig. 3).

Discussion

Cochlear implantation is the treatment frequency of severeto profound sensorineural hearing loss. More candidates hadbeen implanted at younger age with good capacity to deve-lop language at a rate equal to that of their hearing peers.Previously due to limited studies on outcomes for thisimplantation procedure, the candidacy criteria were verystrict. However, recent serial studies have shown goodoutcome from this invasive procedure, and the indicationsfor implantation have gradually been revised4. Now thereare more implant devices licensed for use in children asyoung as 12 months and in additional and learning disabili-

ties4

. The children with additional disabilities can potentia-lly broaden their communication skills, and make progress,though possibly at a slower pace than children withoutadditional disabilities.

Patient with DS and hearing loss posed a major challenge tothe successful use of hearing aids and other rehabilitative de-vices including cochlear implants. They can have multiple ad-ditional handicaps, including learning and communication dif-

Figure 1 Axial high resolution computed tomography temporal bone (A) showing dilated vestibular aqueduct on both sides

(arrows) and axial magnetic resonance imaging T2WI (B) demonstrating enlarged endolymphatic sac bilaterally (arrows).


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Down’s syndrome with abnormal inner ear: Is it suitable for cochlear implantation? 27

ficulties. This group of children have been shown to have aneffect on subsequent language development and performancepost-implantation, with outcomes below those of implantedchildren without additional disabilities. A recent survey of TheCochlear Implant Programmes in DS by the British CochlearGroup (BCIG) in 20104, four with DS children have receivedimplants. They reported that all children remain implant us-ers 12 months to 4 years post-implantation with a significantimprovement seen as early as from 9 months post-implanta-tion in terms of communication and behavioural outcomes4.

This case reported a DS’s child with global developmentaldelay and pre-lingual congenital sensorineural hearing loss.She initially had inconsistent use of her hearing aid. By20 months, the equipment was being worn more consist-ently with optimal fitted hearing aid. However the childwas not having benefit from the hearing aid, therefore shewas referred for cochlear implantation.

Several factors were identified which cochlear implantwas not an appropriate intervention for this child. She had

late referred to our centre for cochlear implant (at 4 years

5 months old), in which ideal age for referral as early as 3months old. Susan Willey et al. in 20095 reported that thepossible factors of delayed in referral were multi-discipli-nary process when deciding whether a child should be re-ferred for an implant, such as degree of hearing loss, mari-tal status of parents, type of insurance, and living in area

where income is below the average. In addition to that, anaudiologist’s ability to determine possible audiologic candi-dates for referral and managing otolaryngologist who fo-cused on otology were more likely to be referred early com-pared to children managed by an otolaryngologist who hada wider range of interests5.

The other concern about the child is having abnormal in-ner ear structures and abnormal brain parenchyma. She wasrejected for cochlear implantation as HRCT showed bilateralincomplete partition of cochlear Type II. She also has otherotological abnormalities, which is LVAS. She is at risk of per-ilymph gusher intra-operatively and at risk of meningitispost-operatively. However, few reports of several studieshave showed benefit with speech recognition to varying de-

grees from implantation in patients with LVAS and can beoffered as an eventual treatment for hearing loss in thesepatients6. In addition, Asma et al. in recent series in 20107,had advocate this group of child should be implanted earlierafter discussing pros and cons with parents as they found outduration of profound hearing loss and residual hearing ap-pear to be critical factors in determining implants success.

Furthermore, she was suffering from otitis media witheffusion (OME), this raise the issue in the candidacy of coch-lear implant. Schwartz & Schwartz in 19788 in their study of38 children’s (mean age, 3.1 years) with DS, reported thatmore than 60% of the series demonstrated otoscopic andacoustic impedance evidence of middle ear effusion. It is

postulated that the OME is secondary to atypical head andneck anatomy, including macroglossia, hypoplastic nasalbones, oropharynx and nasopharynx that are narrower vol-ume. In addition, Eustachian tubes are smaller in diameterand at a less acute angle to the hard palate.

There was concern that implantation in the situation ofthe otitis media prone ear would lead to increased ratesof complications, particularly the risk of infection spread-ing from the middle ear intracranially through the channelcreated by the cochlear implant. However, Hans et al. andBCIG in their survey in 20104 reported all their patients hadOME, no intra-operative or post-operative surgical compli-cations were encountered.

A part from otological abnormalities, she also has globaldevelopmental delay and her MRI showed multiple dilatedperiventricular region in both temporal and parietal lobeslikely represents incomplete myelination and features sug-gestive of brachicephaly. With all the reasons discussed ear-lier, she has very limited benefit of cochlear implantation,and University Kebangsaan Malaysia cochlear implant com-mittee decided to reject her from the programme. She willlearn later for sign language.

As conclusion, DS babies with hearing loss should be en-courage to have consistent audiological followed up andhaving hearing aid intervention. We would encourage clini-cians caring for these children and their families to considerreferral for assessment by a Cochlear Implant Programme as

early as 6 months of age.

Figure 2 Coronal high resolution computed tomography tem-

poral bone showing the fusion of the apical and the middle turn

of the cochlea (black arrow) and incudomalleolar complex is

normal (white arrow).

Figure 3 Sagittal T1WI showing steep straight sinus (arrow)

with absent sagittal suture (not well in demonstrated magnetic

resonance imaging) suggestive of brachicephaly.


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28 H. Eyzawiah et al

References

1. Roizen NJ, Walters CA, Nicol TG, Blondis TA. Auditory brainstemevoked response in children with Down syndrome. J Peds. 1993;123:S9-12.

2. Holm V, Kunze L. Effect of chronic otitis media on language and

speech development. Pediatrics. 1969;43(5):833-9.3. Blaser S, Propst EJ, Martin D, Feigenbaum A, James AL, Shannon P,et al. Inner ear dysplasia is common in children with Down syn-drome. Laryngoscope. 2006;116:2113-9.

4. Hans PS, England R, Prowse S, Young E, Sheehan PZ. UK andIreland experience of cochlear implants in children with Downsyndrome. Int J Pediatr Otorhinolaryngol. 2010;74:260-4.

5. Wiley S, Meinzen-Derr J. Access to cochlear implant candidacyevaluations: Who is not making it to the team evaluations? Int JAudiol. 2009;48:74-9.

6. Harker LA, Vanderheiden S, Veazey D, Gentile N, McCleary E.Multichannel cochlear implantation in children with large vesti-bular aqueduct syndrome. Ann Otol Rhinol Laryngol. 1999;Supl;177:39-43.

7. Asma A, Anouk H, Luc VH, Brokx JP, Cila U, Van De Heyning P.Therapeutic in managing patients with large vestibular aque-duct syndrome (LVAS). Int J Pediatr Otorhinolaryngol. 2010;74(5):474-81.

8. Schwartz DM, Schwartz RH. Acoustic impedance and otoscopicndings in young children with Down’s syndrome. Arch Otolaryn-gol. 1978;104:652-6.


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www.fcsd.org

INTERNATIONAL

MEDICAL REVIEW


www.elsevier.es/sd

CLINICS AND PRACTICE

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

regular education

R. Valdívia Lucisano a, L.I. Pfeifer b,*, M.P. Panuncio-Pinto b, J.L. Ferreira Santos c and P.P. Gomes Anhão d

a Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brasilb,* Department of Neuroscience and Behavioral Sciences, Medical School, University of São Paulo, Ribeirão Preto, SãoPaulo, Brasilc Department of Social Medicine, Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brasild Department of Social Medicine, Graduate Program in Health, Medical School, University of São Paulo, Ribeirão Preto,São Paulo, Brasil

KEYWORDS

Down’s syndrome;Social Interaction;

Child;

Social skills

Abstract

This study identies 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 “selfexpression skills”, 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 signicant 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.

Received on April 17, 2012; accepted on June 26, 2013* Author for correspondence.E-mail: [email protected] (L.I. Pfeifer).

mailto:[email protected]:[email protected]


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30 R. Valdívia Lucisano et al

PALABRAS CLAVE

Síndrome de Down;

Interacción social;

Niños;

Habilidades sociales

Habilid

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