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D S INTERNATIONAL MEDICAL REVIEW

ON DOWN’S SYNDROME

Volume 15•Number 2

July

2011

Contents

Editorial

17 Farewell Charles!

A. Serés Santamaría

Original article

18 Attention decit disorder in children with Down’ssyndrome

M. Hernández Martínez, X. Pastor Duran and J. Navarro Navarro

Case report

23 The skin and its manifestations in childrenwith Down’s syndrome

M.D. Pozo Cano, E. González Jiménez, J. Álvarez Ferre,E. Martínez García and M.C. Navarro Jiménez

26 Achondroplasia and Down’s syndrome

S. Santos, T. Silva and M. Pinto

Psychopedagogical advances

29 Attention to the rst infancy (II):assistance activity

M. Golanó Fornells

32 News/Announcements/Meetings

Premio Reina Sofía 2010 Giving Speech

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INTERNATIONALMEDICAL REVIEW ON

DOWN’S SYNDROME

SD

ISSN: 1138-011X

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FUNDACIÓ CATALANA SÍNDROME DE DOWN21

INTERNATIONAL

MEDICAL REVIEW ON

DOW'N SYNDROMESDEditorial Committee

Editor: Josep M. CorretgerEditor-in-Chief: Agustí SerésEditorial and Coordination: Katy Trias Trueta

Medical Advisers

F. Ballesta MartínezM. Cruz HernándezJ. Moreno Hernando

S. 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 gathercurrent 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.

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Chlorine-free ecological paper.

This publication is printed on acid-free paper.

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ISSN: 1138-011X

Scientifc Committee

Cardiology: J. CasaldàligaDermatology: J. FerrandoDietetics-nutrition: N. EgeaEndocrinology: A. Goday Maxillofacial Surgery: A. MonnerGenetics: A. SerésGeriatrics: C. FarriolsGynaecology: J. Cararach

General Medicine:

A. GarnachoChild Neurology: A. Nascimento Adult Neurology: R. RocamoraDentistry and Orthodontics: M. A. MayoralChild Ophthalmology:

A. Galán Adult Ophthalmology: J. Puig, S. SimónEar, Nose and Throat:

J. DomènechPaediatrics: J. M. CorretgerPsychology:

B. GarvíaPsychiatry: J. BarbaTraumatology and Orthopaedics:

F. Torner


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Rev Med Int Sindr Down. 2011;15(2):17

1138-011X/$ - see front matter © 2011 Fundació Catalana Síndrome de Down. Published by Elsevier España, S.L. All rights reserved.

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EDITORIAL

Farewell Charles!

A. Serés Santamaría

Medical Coordinator Fundació Catalana Síndrome de Down

When one has had the opportunity to know a person likeCharles Epstein, with whom one has shared many scientic

projects, academic collaborations, as well as social ones,always with the common denominator of study, work and theght in favour of people with Down’s syndrome, this leaves

an impression that is engraved in the heart. This is whathappened between Charles Epstein and the Catalan Down’s

Syndrome Foundation (FCSD), the people who knew him andworked with him will not be able to forget him, particularlyfor his capacity for work and study. Neither can we forgetthe relaxing conversations, not only with him, but also with

his charming wife, Lois, to whom he was very close.The relationship of the FCSD with Charles goes back to

the 1990’s, when he, as Chairman of the Scientic Committee

of the National Down Syndrome Society (NDSS), organisedthe conference in Charleston, in the United States. Thismeeting was attended by scientists, medical professionalsand people involved with Down’s syndrome. The FCSD was

represented by its Chairman and by the medical coordinator.From then on, lines of communication and bonds offriendship were established between us, at a personal andinstitutional level.

In this same conference, in a session restricted to medical

professionals, the embryo of the DSMIG (“Down SyndromeMedical Interest Group”) began to grow, which would laterbe driven and led for many years by another good friend ofthe FCSD, William Cohen, who died 2 years ago. Charles wasthe rst driving force behind the DSMIG and supported us to

become part of it, as it was since its origin.Another fact that must be highlighted is the support that

he gave us in being able to organise the I International DownSyndrome Conference in Barcelona in 1996, which was verysuccessful and well attended. He, as Chairman of theScientic Committee of the NDSS, met us in New York,

where we set out our project of the Conference for

Barcelona in front of the Executive Committee. Charlessupported our option and suggested that the NDSS should bein the organisation of the Conference.

These are just a small sample of the feeling that CharlesEpstein had for the FCSD. He took part in many occasions inevents organised by us (Workshops, Conferences, Scientic

Meetings), all with great success and with a particularsensitivity. He was also a consultant to this journal.

Unfortunately, in February of this year, the communicationmedia recorded his death, more for being a victim ofterrorism, a subject that he did not like to talk about, than

for his abundant scientic work on helping people withDown’s syndrome.

Charles Epstein, born in Philadelphia in 1933, andGraduate in Chemistry and Medicine in Harvard University.In 1967 he joined the University of California, where he wasProfessor of Genetics in the San Francisco campus UCSF.Chairman of the Scientic Committee of the NDSS from

1979 to 2000, was a person very involved in the discovery ofthe genetic origin and the effects of the third copy of thechromosome 21 in Down’s syndrome.

We must not let this opportunity pass to clearlyacknowledge Charles Epstein for all these, so many and

always good, things. Charles will not stop being a referencein the study of Down’s syndrome, and for this purpose the“Charles J. Epstein Down Syndrome Research Award” wascreated by NDSS.

A few weeks ago Pedro Otón also left us, a likeableperson, and one of the great ghters in our country for the

social integration of people with Down’s syndrome. With

these words we would like record to his family and his closefriends, our most sincere sorrow for their loss. Pedro left avery high standard within Down España; we hope that theperson who takes over from him may direct the institutionwith same wise skills.


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Rev Med Int Sindr Down. 2011;15(2):18-22


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ORIGINAL ARTICLE

Attention decit disorder with or without hyperactivity

or impulsivity in children with Down’s syndrome

M. Hernández Martínez a,*, X. Pastor Duran b and J. Navarro Navarroc

aPediatrics Service, Centre Mèdic Down, Fundació Catalana Síndrome de Down, Barcelona, Spainb

Pediatrics Service, Hospital Clínic, Universidad de Barcelona, Barcelona, SpaincPediatrics Service, CAP Collblanc, L’Hospitalet de Llobregat, Barcelona, Spain

Received on November 22, 2010; accepted on April 29, 2011

KEYWORDS

Down’s syndrome;

School performance;

Attention decit

disorder with or

without hyperactivity;Diagnosis;

Comorbidity

Abstract

Children with Down’s syndrome show a higher prevalence of attention decit disorderwith or without hyperactivity or impulsivity (ADHD) than the rest of the general population.The diagnosis and identication of ADHD is important because it can affect performanceat school and cause behavioural disturbances.

This research study has two objectives. First of all, in this review we consider therepercussions that ADHD has on Down’s syndrome children. Secondly, we present asystematic analysis of the articles published in the scientic literature relating to thetests used to diagnose ADHD in DS children.© 2011 Fundació Catalana Síndrome de Down. Published by Elsevier España, S.L. All rightsreserved.

* Corresponding author.E-mail: [email protected] (M. Hernández Martínez).

PALABRAS CLAVE

Síndrome de Down;

Rendimiento escolar;

Trastorno por décit

de atención cono sin hiperactividad;

Diagnóstico;

Comorbilidad

Trastorno por décit de atención con o sin hiperactividad en los niños con síndrome

de Down

Resumen

Los niños con síndrome de Down tienen una prevalencia más elevada que el resto depoblación general de presentar trastorno por décit de atención con o sin hiperactividado impulsividad (TDAH). El diagnóstico e identicación del TDAH es importante porquepuede afectar el rendimiento escolar y causar trastornos de la conducta.El objetivo de este trabajo es doble. En primer lugar, se considera en esta revisión larepercusión del TDAH en los niños con síndrome de Down. En segundo lugar, se presentaun análisis sistemático de los artículos publicados en la bibliografía cientíca relativos alos tests utilizados para el diagnóstico de TDAH en niños con síndrome de Down.© 2011 Fundació Catalana Síndrome de Down. Publicado por Elsevier España, S.L. Todoslos derechos reservados.


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Attention decit disorder with or without hyperactivity or impulsivity in children with Down’s syndrome 19

Attention decit disorder with or withouthyperactivity or impulsivity and Down’ssyndrome

Attention decit disorder with or without hyperactivity orimpulsivity (ADHD) affects approximately 3%-7% ofschoolchildren in the general population,1 whilst in mentallyhandicapped children this gure is as high as 14.8%2 and, inDown’s syndrome (DS), it can reach 9%.3 The cardinalsymptoms are lack of attention, hyperactivity andimpulsivity. The parents of children and adolescents with DShave described more behavioural disturbances and problemsrelated with attention when they compare them withsiblings who have shown normal development.4 Greaterhyperactivity has also been described in DS children from5-11 years of age when they are compared with a siblinggroup.5

ADHD is a genetic neurobiological disorder. In thisdisorder, there are functional and anatomical changes inthe prefrontal cortex and its connections with the basalnuclei (especially the striate nucleus) and the cerebellum,

predominantly involving catecholaminergic pathways andtheir neurotransmitters, dopamine and noradrenaline.

In a recent study conducted at the University of Cardiff,6 it was demonstrated that children with ADHD exhibit agreater number of DNA deletions or duplications, which areknown as copy number variations (CNV), in comparison withchildren who do not have this syndrome. CNV cause thegenes which are found in affected regions to be more or lessactive than they ought to be, leading to the production ofexcessive or insufcient amounts of the proteins which theycode for. It has been postulated that, depending on thegenes affected, children with ADHD will manifest one or

other subtype of the disorder and, depending on the numberof copies of each gene, ADHD intensity will vary.

There are two important concepts which can help us tounderstand how ADHD and DS are related: dual diagnosisand behavioural phenotype.

The term dual diagnosis, coined by Lovell and Reiss in19937 and introduced in Spain by Novell in 1999, is used torefer to a person who is mentally retarded and has apsychiatric disorder.7 In the past it was not generallyaccepted that mentally handicapped people could, at thesame time, have a mental disease. Nowadays, it is recognisedthat psychiatric disorders and mental retardation can occur

in the same person. Consequently, these disorders canbenet from medical treatment. Dual disorder can affectup to 18%-38% of children with DS.2

The behavioural phenotype concept8 means “theheightened probability or likelihood that people with agiven syndrome are will exhibit certain behavioural anddevelopmental sequelae relative to those without thesyndrome.”

In ADHD inattention is manifested as difculty inconcentrating on an activity. The person appears not tolisten when they are spoken to, is disobedient, easilydistracted and restless, fails to pay attention, forgets andloses things, and avoids tasks that require sustained mental

effort. Hyperactivity or impulsivity are characterised byrestlessness, excessive activity (running about or jumping)in inappropriate situations and these children nd it difcult

to remain seated. They talk non-stop, act without thinkingand nd it difcult to wait their turn. All this leads to adeterioration in their social relationships and performanceat school. The symptoms in DS children may appear beforethe age of three.9

Hyperactivity and impulsivity mean that children with DSand ADHD have a high risk of hurting themselves as a resultof an accident, running away, getting lost, etc.

It is necessary to establish a differential diagnosis ofADHD in children with DS. Hyperthyroidism, hearing lossand sleep apnoea10 and the side effects of certainmedications, such as histamine antagonists, caffeine and

adrenergic agonists must be ruled out.ADHD does not normally appear in isolation and it is

usually associated with other disorders (comorbidity)11 (table 1). 40%-60% of the ADHD population has an oppositionaldeant disorder , 20%-40% an antisocial behaviour disorder,12 25% anxiety disorders, 24% mood disorders, and 12% have anervous tics, as well as learning difculties. There is also astrong link between autistic spectrum disorders and ADHDand DS.13

Diagnosis of ADHD, assessment scales

and treatmentThe diagnosis of ADHD is basically clinical. It is essential toprepare a detailed medical history in order to evaluate thesymptoms. It must include DSM-IV-TR clinical criteria(table 2)14 and demonstrate the existence of functionalrepercussions which have a signicant effect on thepatient’s quality of life. The symptoms must be present intwo or more settings, for example at school and at home.There are three ADHD subtypes: the inattentive type (ifinattention signs predominate), the hyperactive-impulsivetype, and the combined type (if there are manifestationsof both subtypes). The most common subtype is combined

ADHD and the subtype which is most difcult to diagnoseis inattentive ADHD. The hyperactive-impulsive type is theleast common form.

Table 1 Disorders which show comorbidity with ADHD

Tourette’s syndrome/Obsessive-compulsive disorder

Generalised developmental disorders

Autistic disorder

Asperger’s syndrome

Generalised non-specic developmental disorder

Communication disorder (specic language disorder)

Learning difculties Dyslexia

Dyscalculia

Dysgraphia

Non-verbal learning disorder

Developmental coordination disorder

Behavioural disturbances

Anxiety disorders

Depression and other affective disorders


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20 M. Hernández Martínez et al

There is no specic marker or neuroimaging test that canaid diagnosis. Assessment scales are not diagnostic as such,but they are only useful for collecting data and determiningwhether diagnostic criteria are met. Making a diagnosis ofADHD in a DS child may be more difcult because some signsof ADHD and other comorbid disorders may be attributed to

the child’s intellectual disability.When assessing DS children, it is advisable to have a clear

understanding of their linguistic and cognitive development.

The scales must be adapted to the level of development ofthe child and it is important to consider their mental age,taking as a basis their developmental age and not strictlytheir chronological age.

The methods used in diagnostic assessment includescreening and specic questionnaires. The most widely usedscreening instruments are: the “Strengths and DifcultiesQuestionnaire” (SDQ) (table 3), “Rutter, Child BehaviorCheklist” (CBCL) and Conners’ tests. The specic psychometrictests used for ADHD are: “Schedule for Nonadaptive andAdaptive Personality IV” (SNAP IV) and DuPaul’s “AttentionDecit Hyperactivity (ADH) Rating Scale” (table 4).

Below are the psychometric tests which are most widely

used in the population diagnosed with psychopathology. Inthis study the PUBMED database was used, establishing asearch strategy for the period from 1986 to 2010 and

Table 2 DSM-IV-TR ADHD criteria

These criteria require 6 to 9 variables related to

attention decit and hyperactivity-impulsivity to be met.

They are as follows:

Inattention

Often does not give close attention to details or makes

careless mistakes in schoolwork, work or other activities.

Often has trouble keeping attention on tasks or play

activities.

Often does not seem to listen when spoken to directly.

Often does not follow through on instructions and fails to

nish schoolwork, chores or duties in the workplace (not

due to oppositional behaviour or failure to understand

instructions).

Often has trouble organising tasks and activities.

Often avoids, dislikes or doesn’t want to do things that

take a lot of mental effort for a long period of time (such

as schoolwork or homework).

Often loses things needed for tasks and activities

(e.g. toys, school assignments, pencils, books or tools).Is often easily distracted.

Is often forgetful in daily activities.

Hyperactivity-impulsivity

Often dgets with hands or feet or squirms in seat.

Often gets up from seat when remaining in seat is

expected.

Often excessively runs about or climbs when and where it

is not appropriate (adolescents or adults may feel very

restless).

Often has trouble playing or doing leisure activities

quietly.

Is often “on the go” or often acts as if “driven by a

motor”.

Often talks excessively.

Often blurts out answers before questions have been

nished.

Often has trouble waiting one’s turn.

Often interrupts or intrudes on others (e.g. butts into

conversations or games).

These characteristics must also comply with three

conditions:

— Early onset (prior to the age of 7).

— Impairment in at least two relational settings (usually

at home and in the school).

— They must be present for at least six months.

Table 3 Strengths and Difculties Questionnaire (SDQ)

This questionnaire detects probable cases of mental and

behavioural disturbances in children.

It consists of 25 sections which are divided into 5 scales

of 5 items each. These scales refer to:

— Emotional symptoms.

— Behavioural problems.

— Hyperactivity.

— Problems with classmates, companions, etc.

— Positive socialisation conduct.

1. Considerate of other people’s feelings.

2. Restless, overactive, cannot stay still for long.

3. Often complains of headaches, stomach-aches or

sickness.

4. Shares readily with other children (treats, toys,

pencils, etc.).

5. Often has temper tantrums or hot tempers.

6. Rather solitary, tends to play alone.

7. Generally obedient, usually does what adults request.8. Many worries, often seems worried.

9. Helpful if someone is hurt, upset or feeling ill.

10. Constantly dgeting or squirming.

11. Has at least one good friend.

12. Often ghts with other children or bullies them.

13. Often unhappy, down-hearted or tearful.

14. Generally liked by other children.

15. Easily distracted, concentration wanders.

16. Nervous or clingy in new situations, easily loses

condence.

17. Kind to younger children.

18. Often lies or cheats.19. Picked on/ bullied by other children.

20. Often volunteers to help others (parents, teachers,

other children).

21. Thinks things out before acting.

22. Steals from home, school or elsewhere.

23. Gets on better with adults than with other children.

24. Many fears, easily scared.

25. Sees tasks through to the end, good attention span.


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Attention decit disorder with or without hyperactivity or impulsivity in children with Down’s syndrome 21

employing Medical Subject Heading (MeSH) descriptors. Thedescriptors that we selected were: Down’s syndrome,Attention decit disorder with or without hyperactivity anddiagnostic instrument.

1. Reiss Scales for Children’s. These behavioural assessmentscales were specically designed for screening anddiagnosing psychopathology in children diagnosed withdual disorder. They have been used in children with DS. 15

2. Rutter Behavioural Scale. Gath and Gumley16 used it in1986 in a sample of DS children from state schools. Theyestimated the prevalence of important behaviouralproblems, infantile autism, childhood psychosis,emotional disturbance and hyperactivity, revealingsignicant differences in the behavioural patterns of DSchildren and another group of mentally retarded childrenwith similar characteristics (age, sex and mental and

physical impairment).3. DSM-III-R criteria. Myers and Pueschel17 used them in1991 to determine the prevalence of psychiatric disordersin 497 children with Down’s syndrome, based on clinicaloutpatient visits. Amongst the most common diagnoses,infantile autism, repetitive stereotyped behaviour,anxiety disorders, behavioural disturbances, hyperactivityand attention decit were detected.

4. Developmental Behaviour Checklist (DBC). Thisquestionnaire, containing 96 items, is designed toevaluate the emotional and behavioural problems ofmentally retarded children from 4 to 18 years of age. Thequestions refer to the behaviour observed in the last 6

months. It has been used to screen for autism.

5. Child Behaviour Check List (CBCL). Developed byAchenbach in 1991. It was initially used as a diagnostic

screening tool at a mental health unit to assess behaviouralproblems in minors, including DS children.18 It is widelyused in clinical practice and research, owing to itsdemonstrated reliability and validity. One of its drawbacksis that it comprises over 150 items and its interpretation

is time-consuming and requires computer skills.6. Strengths and Difculties Questionnaire (SDQ). Known in

Spanish as the Cuestionario de Dicultades y Capacidades,it is a wide-spectrum scale, which was developed byRobert Goodman at the Institute of Psychiatry in Londonin 1997. It is the most widely used scale in the world andit is a short test consisting of only 25 attributes, which iseasy to use in paediatric visits. It addresses the presenceof emotional disturbances, behavioural problems,hyperactivity, and problems with classmates, etc. It is aninstrument which has been well validated in the Spanishpopulation. The SDQ can be a useful option for screening

for psychiatric disorders and also as an aid during therst phase in the diagnosis of ADHD in DS children.19 Itassesses children and teenagers from 4 to 16 years of ageand can be downloaded free of charge at www.sdqinfo.org. It has been translated into more than 40 languages,including Spanish, Catalonian, Galician, Basque,Rumanian, Arabic, Chinese and Swahili.

7. Aberrant Behavior Checklist (ABC). It includes a scale of5 factors and 58 items. In Spanish it is known as theEscala de Comportamiento Anómalo. Capone20 uses it inhis study on the comorbidity of autistic spectrum disordersand DS, and neurobehavioural disturbances.

8. SNAP-4. This is a short version of the DSM-IV based on the

detection of 18 diagnostic items. It is divided into two9-item sections, which represent the domains ofinattention and hyperactivity / impulsivity respectively.

Table 4 Conners’ scale revised

Not at all Seldom Quite often Often

1. Displays excessive motor restlessness

2. Has learning difculties at school

3. Disrupts other children

4. Is often distracted/pays little attention

5. Expects immediate satisfaction of demands

6. Has difculty with activities which require cooperation

7. Is absent-minded/self-absorbed

8. Fails to complete a task which has started

9. Is not accepted by the group

10. Denies mistakes and blames others

11. Makes a lot of noise and in inappropriate situations

12. Behaves arrogantly and is disrespectful

13. Is restless and constantly in motion

14. Argues and ghts about anything

15. Has unpredictable outbursts of bad temper

16. Lacks a sense of rules and fair play

17. Is impulsive and irritable

18. Gets on badly with most of the other children at school19. His/her efforts are easily frustrated

20. Has difculty accepting the indications of the teacher


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22 M. Hernández Martínez et al

9. Conners’ Rating Scale (CRS-R). It consists of 4 subscales:oppositional, cognitive problems and inattention,hyperactivity and ADHD index showing the risk ofdeveloping the disorder.

10. ADHD Rating Scale-IV. Proposed by DuPaul, it contains18 items which are directly related to the DSM-IVdiagnostic criteria for ADHD.

The most effective treatment for ADHD is multimodal, inother words, a combination of medication and behaviouraltherapy, the latter consisting of individualised psycho-educational measures both in the school and at home. Thedrug of choice is methylphenidate, which regulates thedopaminergic system. The use of methylphenidate isindicated in mentally retarded children if there are ADHDsymptoms which are intense and disproportionate to theirunderlying pathology. However, treatment must be initiatedby professionals who are familiar with the disorder and theywill subsequently have to monitor their patients, adjustingthe dose, depending on the response. Children with SD mustbe closely monitored due to the simultaneous presence of

other pathologies.

Conclusion

Both early diagnosis and prompt therapeutic measuresimprove the learning ability and quality of life of thesechildren and their families, and they can substantiallyreduce the comorbidity associated with ADHD, which isalways a bad prognostic factor.

The diagnosis of ADHD is complex and more so in DSchildren, and there are no specic standardised scales for

them, although there are general scales for making apreliminary diagnosis. We need to continue investigatingthe applicability of the most appropriate scales for thesechildren in clinical practice.

Conict of interests

The authors afrm that they have no conict of interests.

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CASE REPORT

The skin and its manifestations in the clinical history of childrenwith Down’s syndrome

M.D. Pozo Cano a,*, E. González Jiménez a, J. Álvarez Ferre b, E. Martínez García a and M.C. Navarro Jiménez a

aDepartment of Nursery, Faculty of Health Sciences, University of Granada, Granada, SpainbHospital Universitario San Rafael, Granada, Spain

Received on October 4, 2010; accepted on April 29, 2011

KEYWORDSDown’s syndrome;

Children;

Skin lesions

AbstractChromosomal disorders are not usually associated with specic alterations of the skin,with Down’s syndrome being an exception, because the skin of the newborn with thissyndrome is soft, thin and delicate. It subsequently becomes coarser, drier and rougher,

and generalised xerosis associated with keratosis pilaris is common. In the case of mucousmembranes, macroglossia and scrotal tongue with protrusion and cleft lip are verycommon features. Premature aging of the skin and photosensitivity are common featuresin these patients. The following are among the most signicant skin disorders: cutismarmorata, xerosis, palmoplantar hyperkeratosis, cheilitis, seborrhoeic dermatitis,folliculitis, tinea pedis, onychomycosis, crusted scabies (Norwegian scabies), atopicdermatitis, alopecia areata, vitiligo, psoriasis (severe form), pityriasis rubra pilaris,syringoma, elastosis perforans serpiginosa and cutis verticis gyrata. The aim of this studywas to carry out a review of existing literature on major dermatological processes andtheir prevalence in the paediatric patient with Down’s syndrome.© 2011 Fundació Catalana Síndrome de Down. Published by Elsevier España, S.L. All rightsreserved.

* Corresponding author.E-mail: [email protected] (M.D. Pozo Cano).

PALABRAS CLAVESíndrome de Down;

Niños;

Lesiones cutáneas

La piel y su expresión en la clínica del niño con síndrome de Down

ResumenLos desórdenes cromosómicos normalmente no se encuentran asociados a alteracionesespecícas de la piel, pero hay una excepción en el caso del síndrome de Down, ya quela piel del recién nacido con este síndrome es suave, delgada, delicada. Posteriormentese torna más gruesa, seca y áspera, y es común la presencia de xerosis generalizada aso-ciada a queratosis pilar. En el caso de las mucosas, la macroglosia y la lengua escrotal,


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24 M.D. Pozo Cano et al

Introduction

Down’s syndrome (DS) is a chromosomal disorder which wasrst described by John Langdon Down in 1866.1 However, itwas not until 1959 when Jerome Lejeune described one of

the three possible chromosomal anomalies that caused thisdisorder: trisomy of chromosome 21.2 However, it is knownthat it can be caused by three types of anomalies: freetrisomy of chromosome 21, chromosomal translocation, andmosaicism, the last one being the least common subtype.Free or regular trisomy of chromosome 21 is the mostcommon form of Down’s syndrome and is responsible for95% of cases.3,4

A woman is at greater risk of conceiving a child with Down’ssyndrome the older she is.4 This is reected in the incidenceof this syndrome according to the different maternal ages.Thus, between the age of 15 and 29, the risk of having a child

with Down’s syndrome is 1:1500 live births, between 30 and34 years old 1:800, between 35 and 39 years old 1:270 andbetween 40 and 44 years old 1:100. In women over 45 yearsold, its incidence is even higher, 1 in every 50 live births.4 This statistic shows the importance and effect that themother’s age has on the development of this disorder.

From a clinical point of view, Down’s syndrome is amultisystemic pathological disorder given the high numberof associated physiological alterations.5 Thus, paediatricpatients with Down’s syndrome just as in adults may show aseries of features and abnormalities in the internal organs.6 Among the most common it is worth highlighting are at

occiput and nasal bridge, upslanted palpebral ssures,excess skin at the nape of the neck, Brusheld spots(whitish-grey spots on the iris),7 brachydactyly (small handsand feet), single palmar crease, clinodactyly of the fthnger, among others. These features, which are associatedwith a marked hypotonia and congenital cardiomyopathies,are found in 40% of cases and they are, therefore, consideredas the main physical ndings. Mental retardation is aconstant in this type of patient.8

Other possible signicant ndings are duodenal atresia,frequent respiratory infections, thyroid disorders(hypothyroidism), as well as a considerable increase in theincidence of leukaemia.9 Puberty is generally delayed and is

often not completed. It is important to mention thatchromosomal disorders are not usually associated withspecic skin conditions. However, in our case, Down’s

syndrome is an exception. The skin of a child with Down’ssyndrome is soft, thin and delicate compared to the skin ofa newborn baby without this syndrome and they may havefeatures such as cutis marmorata and malar erythema.10 The skin becomes thicker, dryer and rougher during infancy

and generalised xerosis associated with pilar keratosis iscommon. In the case of mucous membranes, macroglossiaand scrotal tongue with protrusion and cleft lip are verycommon features. Premature aging of the skin andphotosensitivity are common features.11

Abnormal cell-mediated and humoral immunity, seenessentially in a decrease in the number and function of the Band T lymphocytes, along with a decient phagocytosis, causesinfectious dermatological processes to appear and develop.The following are among the most signicant skin disorders:cutis marmorata, xerosis, palmoplantar hyperkeratosis,cheilitis, seborrhoeic dermatitis, folliculitis, tinea pedis,

onychomycosis, crusted scabies (Norwegian scabies), atopicdermatitis, alopecia areata, vitiligo, psoriasis (severe form),pityriasis rubra pilaris, syringoma, elastosis perforansserpiginosa and cutis verticis gyrata.12 There are fewepidemiological research studies on skin conditions in DS.13

Objective

The main objective to be developed in this study was tocarry out a review of the existing literature of the maindermatological processes and their prevalence in paediatric

patients with Down’s syndrome.

Material and methods

In order to prepare this study we had to carry out a reviewof the clinical characteristics and frequency of the mainskin conditions of 90 paediatric patients with Down’ssyndrome. These were obtained from 50 scientic studiespublished in the last 4 years.

It was a retrospective-descriptive study including abibliographic search in Medline and Cochrane. We selected48 articles from the last 4 years on skin conditions in

children with Down’s syndrome. A detailed analysis wascarried out to try and dene the main clinical featuresdescribed by the different authors.

con protrusión y sura del labio inferior, resultan rasgos muy frecuentes. El envejeci-miento temprano de la piel y la fotosensibilidad son características habituales en estospacientes. Entre las alteraciones de la piel más considerables encontramos cutis marmo-rata, xerosis, hiperqueratosis palmoplantar, queilitis, dermatitis seborreica, foliculitis,tinea pedis, onicomicosis, sarna costrosa (sarna noruega), dermatitis atópica, alopeciaareata, vitíligo, psoriasis (forma grave), pitiriasis rubra pilaris, siringoma, elastosis per-forante serpiginosa y cutis verticis girata. El objetivo de este trabajo ha sido llevar a cabouna revisión de la bibliografía existente sobre los principales procesos dermatológicos ysu prevalencia en el paciente pediátrico con síndrome de Down.

© 2011 Fundació Catalana Síndrome de Down. Publicado por Elsevier España, S.L. Todoslos derechos reservados.


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The skin and its manifestations in the clinical history of children with Down’s syndrome 25

Results

In accordance with the literature consulted, it is possibleto reach the conclusion that the main lesions in termsof frequency and associated complications are thefollowing:

Xerosis, described in 61 subjects and with a prevalence of67.7%. Another of the most prevalent skin complications wasmalar erythema, which was described in 59 cases, with atotal prevalence of 65.5%. Mongolian spots were found in upto 56 cases. This represents 62.2% of skin disorders.Palmoplantar hyperkeratosis is another of the most prevalentskin disorders in these patients. It was described in 52 out of90 patients assessed (57.7% of the cases). Cutis marmorata

as a dermatological feature was found in up to 40 of thesubjects studied, with a prevalence of 44.4%. Pilar keratosiswas found in 30 out of the 90 patients (33.3%). Café-au-laitspots were found in 24 cases (26.6%). Nappy rash was alsofound in 22.2% of the cutaneous lesions and was present in20 of the subjects studied. Seborrhoeic dermatitis was onlyfound in 17 patients (18.8%) and atopic dermatitis in 10patients (11.1%). The results are shown in gure 1.

Discussion

From a clinical point of view, the dermatological symptoms

associated with Down’s syndrome in paediatric patients

have been studied the least and as a result, are the leastwell-known. The absence of in-depth studies on theseconditions means that new data desperately needs to becontributed in order to shed more light on existing studies.The results that we found in this review were comparedwith those from other studies and we found some differences,probably due to the methodological criteria and criteriaused to select the sample.

Conclusion

We believe that the data reported here will be useful to addto and expand upon existing knowledge as well as to improvethe understanding of the special dermatological featuresthat arise in children with Down’s syndrome.

Conict of interests


References

1. Dourmishev A, Miteva L, Mitev V, Pramatarov K, Schwartz RA.Cutaneous aspects of Down syndrome. Cutis. 2000;66:420-4.

2. Dutta S, Nandagopal K, Gangopadhyay PK, Mukhopadhyay K.Molecular aspects of Down syndrome. Indian Pediatr.2005;2:339-44.

3. Barankin B, Guenther L. Dermatological manifestations ofDown’s syndrome. J Cutan Med Surg. 2001;5:289-93.

4. Scherbenske JM, Benson PM, Rotchford JP, James WD.Cutaneous and ocular manifestations of Down syndrome. J Am

Acad Dermatol. 1990;22:933-8.

5. Kersting DW, Rapaport IF. A clinicopathologic study of the skinin mongolism. Arch Dermatol. 1958;77:319-23.

6. Novice FM, Collison DW, Burgdorf WHC, Esterly NB. Handbook

of Genetic Skin Disorders. Chromosome disorders. Philadelphia:WB Saunders Company; 1994. p. 627-30.

7. Barankin B, Guenter L. Dermatological manifestations ofDown‘s syndrome. J Cutan Med Surg. 2001;5:289-93.

8. Schepis C, Romano C. Cutaneous ndings in the mentallyretarded. Int J Dermatol. 1996;35:317-22.

9. Hitzler J, Cheung J, Li Y, Scherer S, Zipursky A. GATA1 mutationsin transient leukaemia and acute megakaryoblastic leukaemiaof Down syndrome. Blood. 2003;101:4301-4.

10. Schepis C, Barone C, Siragusa M, Romano C. Prevalence ofatopic dermatitis in patients with Down syndrome: a clinicalsurvey. J Am Acad Dermatol. 1997;36:1019-21.

11. Polengui MM, Piattoni F, Orsini GB, Barcella MF, Gueli MR,Leuzzi S, et al. Dermatologic disorders in Down syndrome. AmJ Med Genet Supplem. 1990;7:324-5.

12. Ercis M, Balci S, Atakan N. Dermatological manifestations of 71Down syndrome children admitted to a clinical genetics unit.Clin Genet. 1996;50:317-20.

13. Schepis C, Barone C, Siragusa M, Pettinato R, Romano C. Anupdate survey on skin conditions in Down syndrome. Dermatol.2002;205:234-8.

XerosisMalar erythemaMongolian spotsPalmoplantar hyperkeratosisCutis marmorata

Pilar keratosisCafé-au-lait spotsNappy rashSeborrhoeic dermatitisAtopic dermatitis

67,765,5

62,257,7

44,4

33,3

26,622,2

18,8

11,1

0

10

20

30

40

50

60

70

A t o p i c d e r m a t i t i s

S e b o r r h o e i c d e r m a t i t i s

N a p p y r a s h

C a f é - a u - l a i t s p o t s

P i l a r k e r a t o s i s

C u t i s m a r m o r a t a

M o n g o l i a n s p o t s

P a l m o p l a n t a r h y p e r k e r a t o s i s

M a l a r e r y t h e m a

X e r o s i s

Figure 1 Main skin disorders and its prevalence in childrenwith Down’s syndrome.


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CASE REPORT

Achondroplasia and Down’s syndrome – case report of a rare

association

S. Santos *, T. Silva and M. Pinto

Hospital Dona Estefânia, Lisboa, Portugal

Received on December 2, 2011; accepted on May 3, 2011

KEYWORDS

Achondroplasia;

Down’s syndrome;

Development disability

Abstract

The association of achondroplasia and Down’s syndrome is very rare and only ve caseshave been reported in the literature so far. These two genetic alterations have overlappingfeatures such as short stature, developmental delay or hypotonia that complicatemanagement and follow up.We report the case of a girl that is unique since she was born from a mother withachondroplasia and a healthy father. Achondroplasia was dominantly inherited from themother but at birth she had features of Down’s syndrome as well, conrmed later bykariotype. We review her evolution regarding physical health, cognitive problems andadaptive behavior during her eight years of life.To our knowledge this is the rst report of the combination of both disorders in which theachondroplasia was inherited and not a “de novo” mutation. We address the problemsresulting from the additional burden of having two disorders, and how they can beimproved, aiming to help others in the future to deal with these cases.© 2011 Fundació Catalana Síndrome de Down. Published by Elsevier España, S.L. All rightsreserved.

* Corresponding author.E-mail: [email protected] (S. Santos).

PALABRAS CLAVE

Acondroplasia;

Síndrome de Down;

Trastorno del desarrollo

Acondroplasia y síndrome de Down: historia clínica de una asociación poco común

Resumen

La asociación entre acondroplasia y síndrome de Down es muy poco común y hasta hoysolamente se han descrito cinco casos en la bibliografía. Estas dos alteraciones genéticastienen características que coinciden, como la baja estatura, el retraso en el desarrollo ola hipotonía, que complican el tratamiento y el seguimiento.Presentamos el caso de una niña que es único, ya que es hija de una madre con acondro-plasia y un padre sano. La acondroplasia la heredó predominantemente de la madre,aunque en el nacimiento también presentó rasgos de síndrome de Down, conrmados


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Achondroplasia and Down’s syndrome – case report of a rare association 27

Introduction

The association between achondroplasia and Down’ssyndrome was reported for the rst time in 19701, and sincethen only four other were reported2-5, but in all achondroplasiaoccurred as a “de novo” mutation. Achondroplasia is themost common form of human dwarsm and more than 85%

occur as a “de novo” dominant mutation6,7. Down’s syndromeis the most common chromosomal alteration in humans8.These alterations have distinctive phenotypic traits thatcharacterize them and their concurrence permits to observethe consequences of overlapping features regarding physicaland developmental phenotype.

Patient presentation

A white female child, was born from a 32-year-old motherwith achondroplasia and a healthy 52-year-old father. She

was the product of full term pregnancy and electivecesarean. Measurements at birth were: weight 2760g (5th to10th percentile), length 44 cm (< 3rd percentile), headcircumference 33 cm (10th percentile). Apgar scores were 5and 7 at 1 and 5 minutes, respectively. Since achondroplasiais dominantly inherited, there was a high risk of havingdwarsm but still the mother had opted not to have prenataldiagnosis. At birth she had evidence of achondroplasia butalso features suggestive of Down’s syndrome, such ashypotonia, up-slanting palpebral ssures, epicanthal folds,Brusheld’s spots on the iris, at occiput, short neck, shorthands with transverse palmar crease and she also had a

heart murmur.Both disorders were conrmed by genetic studies,including a kariotype that conrmed 47,XX,+21.

Echocardiogram showed a small atrial septal defect thatclosed spontaneously.

Eyes examination showed no cataract, but strabismus.During infancy, in addition to the frequent upper

respiratory tract problems, she had frequent lowerrespiratory tract infections associated with wheezing andhypoxemia resulting in several hospital admissions.

At the age of four she revealed hearing impairment dueto otitis media with effusion and she underwent tonsillectomywith ventilation tubes insertion. After the intervention her

respiratory problems improved, reducing the number ofadmissions. However recently she is showing again signs ofsleep apnea and may need surgery again.

As expected she has short stature, being below averageboth for Down’s syndrome and for achondroplasia growthcharts, and obesity. She has normal levels of growth hormoneand growth hormone treatment was not considered a goodoption. Her thyroid function is normal. She shows noatlantoaxial instability or other spinal malformation.

Her developmental acquisitions were slower than

expected for a child with Down’s syndrome due to severehypotonia, and also because of the frequent admissionsthat prevented a regular intervention to be held.

She was sitting at two years, walking at three, had herrst words by age two and said small phrases by three. Inthe rst three years of life she was at home with earlyintervention program, but it was very hard to implementfor reasons involving her physical health.

After starting nursery, fortunately also coinciding withthe improvement in general health, it was possible to haveregular early intervention and speech and language therapy,and she showed then not only progress but real gains in her

impairments. She is now eight (g. 1) and she has a moderatecognitive impairment but she is in a regular school, havingspecial education support, occupational therapy and speechand language therapy. She has a very good adaptive andsocial behavior, is well integrated and likes school andseems to live a happy life.

Discussion

Down’s syndrome and achondroplasia is an extremely rareassociation and only a few cases have been reported1-5;

however our case is the rst report of a child having bothdisorders being born from a mother with achondroplasia.Achondroplasia affects more than 250000 individual

worldwide6. It is an autosomal-dominant with nearly completepenetrance7. Fifty percent of the offspring will be affectedand therefore prenatal diagnosis was offered to the motherof our child. Her own perception and experience of thedisorder made her decline it, since she had a fullling andwell adapted life and felt happy disregarding of her condition.She was expecting a child with achondroplasia and theassociation of Down’s syndrome was an unexpected event.

Down’s syndrome affects nearly 1 in every 800 live birthsand is the most common and best known chromosomal

disorder in humans8. The extra chromosome 21 affectsalmost every organ and system and causes a wide spectrumon consequences8.

más adelante por cariotipo. Analizamos su evolución, en la que se observa la salud física,los problemas cognitivos y el comportamiento adaptativo a lo largo de sus 8 años devida.Hasta donde nosotros sabemos, este es el primer caso de la combinación de ambos tras-tornos en el que la acondroplasia es hereditaria y no una mutación “de novo”. Abordamoslos problemas derivados de la carga adicional de presentar dos trastornos y cómo puedenmejorarse con el n de ayudar a otras personas a tratar estos casos.© 2011 Fundació Catalana Síndrome de Down. Publicado por Elsevier España, S.L. Todoslos derechos reservados.


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28 S. Santos et al

Several problems are present in both diseases such ascervical spine problems that fortunately our patient didn’tshow and others were present such as otitis media witheffusion, recurrent upper and lower respiratory problems,snoring and sleep apnea, midface hypoplasia causingorthodontic problems, speech delay and articulation problems,hypotonia, motor delays and an increased risk of obesity.

The disproportion between limbs and trunk sizes alsomade it more difcult for motor milestones to be achievedand respiratory and hearing problems also contributed tolanguage impairment.

Figure 1 Pacient with achondroplasia and Down’s syndrome.

Due to these concurrent problems, her development wasmore impaired than we expect to see either in children withachondroplasia or with Down’s syndrome. Motor and languageskills were later to be accomplished and the frequent healthproblems didn’t allow her to sustain a good and regularintervention program in her early years. This was onlypossible later and we consider it had some consequences inher abilities. However we have worked with the parents tominimize her problems and to help her to feel adjusted, in aregular school and to live a happy life.

It seems imperative that we try harder to stabilize thesepatients and to enable them to receive proper interventionas early as possible so that we can reduce the burden ofhaving two diseases.

Conict of interests


References

1. Sommer A, Eaton A. Achondroplasia and Down’s Syndrome. JMed Genet. 1970;7:63-6.

2. Carakushansky G. Achondroplasia Associated With DownSyndrome. Am J Med Genet. 1998;77:168-9.

3. Sánchez O, Guerra D, Nastasi J, Escalona J. Achondroplasia andDown Syndrome in the same patient. Report of a case. InvestClin. 1999;40:143-54.

4. Chen H, Mu X, Sonoda T, Kim KC, Dailey K, Martinez J, et al.FGFR3 Gene Mutation (Gly380Arg) With Achondroplasia andi(21q) Down Syndrome: Phenotype-Genotype Correlation. SouthMed J. 2000;93:622-4.

5. Dabir T, McCrossan B, Sweeney L, Magee A, Sands A. DownSyndrome, Achondroplasia and Tetralogy of Fallot. Neonatology.2008;94:68-70.

6. Horton W, Hall J, Hecht J. Achondroplasia. Lancet. 2007;370:162-72.

7. Baujat G, legeai-Mallet L, Finidori G, Cormier-Daire V, Merrer M.Achondroplasia. Best Pract Res Clin Rheumatol. 2008;22:3-18.

8. American Academy of Pediatrics. Committee on Genetics.Health Supervision for Children With Down Syndrome. Pediatrics.2001;107:442-9.


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PSYCHOPEDAGOGICAL ADVANCES

Attention to the rst infancy (part II): assistance activity

M. Golanó Fornells

Centro de Desarrollo Infantil y Atención Temprana, Fundació Catalana Síndrome de Down, Barcelona, Spain

Received on October 26, 2010; accepted on April 29, 2011

KEYWORDS

Psychotherapeutic

attention;

Inter-disciplinary

attend;

Transference;

Therapeutic alliance;

Co-ordination between

service

Abstract

This article explains the healthcare given to toddlers and infants at the Centro deDesarrollo Infantil y Atención Temprana (Centre for Child Development and EarlyIntervention). The child is considered a member of an essential relationship (family) anddevelopment is considered a subjective, relational and maturative display.© 2011 Fundació Catalana Síndrome de Down. Published by Elsevier España, S.L. All rightsreserved.

The relationship between the mother, father and child isthe most important aspect for therapeutic work in toddlerand infant healthcare. This is even more evident during thechild’s rst three years, during which time, both parents (or

one of the parents) and the child are both in the same

therapeutic space in the centre. Sometimes the parents arealso interviewed at this stage. When the child is older(3 years until 6 years old) he/she attends the sessions aloneand the parents are interviewed separately. If separation isexpected to be detrimental to the child-parent relationship,then the child and parents can continue having sessionstogether. One of the characteristics of toddler and infanthealthcare is that there is exibility in treatment depending

on the child’s needs and the family’s attitude.* Corresponding author.E-mail: [email protected]

PALABRAS CLAVE

Atención

psicoterapéutica;

Atención

interdisciplinaria;

Transferencia;

Alianza terapéutica;

Coordinación entre

servicios

La atención en la primera infancia (parte II): actividad asistencial

ResumenEn este artículo se explica en qué consiste la atención a la primera infancia desde elCentro de Desarrollo Infantil y Atención Temprana, considerando al niño como miembrode una relación esencial, como es la de la familia, y considerando el desarrollo como undespliegue subjetivo, relacional y madurativo.© 2010 Fundació Catalana Síndrome de Down. Publicado por Elsevier España, S.L. Todos

los derechos reservados.


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30 M. Golanó Fornells

For non experienced parents, especially the mother, aspecic therapeutic positioning must be adopted to

adequately attend to her transference during this stage oflife.1 During the baby’s rst year, the mother has particularemotional characteristics: she considers whether she is ableto keep her newborn alive, communicate with him/her,love him/her, and above all, whether she is a good motherto her son or daughter. Since these emotional characteristicsare present while the mother is bringing up her baby, wemust adopt specic relationship characteristics, promoting

the therapeutic alliance and a positive transference whichis able to support her ability in being a good mother.

Support in the child’s upbringing is one of thepsychotherapeutic approaches currently adopted in thecentre, given the demands from families that come for aconsultation. Motherhood and fatherhood support meansthat parents can regain their emotional balance, allowingthem to identify with their child. This allows them torecognise the child’s needs, better empathise with his/heremotions, interpret his/her behaviour being closer to thechild, making mentalisation and integration of subjective

experiences easier, and therefore promoting symbolisationand development. With this approach, we often see incipientsymptoms quickly disappear, showing that these sessionscan prevent further problems.

Sometimes early childhood symptoms disappear after ashort period of time, i.e. after a few sessions, which ledDaniel Stern1 in 1995 to call these infant/parent relationshippsychotherapies serial brief therapy . However, he alsoobserved that parents returned to the centre after a givenperiod of time because another symptom would appear.Parents would need help at different times because theconict appears in different ways in different evolutive

moments that the child lives, and the parents need differentopportunities at different times to relive the conict and to

be able to solve it. Continuing with the therapy can ofteninvolve prolonged periods of unsuccessful therapy sessions,abandoning treatment or result in one-on-one sessions withone of the two parents, normally the mother. Within thetherapeutic alliance, the psychotherapist’s door is left openfor the parents to return, enabling them to rethink howthey want him/her to help them and consider a new subjectmatter at different moments. This often occurs in earlychildhood care, and is not considered as failure, but a kindof care. In this instance, the concept of ‘brief’ is not making

reference to a previously established therapeutic strategy,but a specic characteristic of the therapeutic process thatoccurs in early childhood.

Understanding the child’s overall healthcare, in whichdevelopment is considered the result of a maturative,relational and always subjective display, the therapeuticapproach could be considered as psychotherapeutic. Assuch, the child is cared for during all phases of his/herdevelopment: intellectual, communicative, relational,emotional, motor, all of which can not be separated fromone another. Constant interdisciplinary work is thereforeenforced.

The technique employed for the child-parent relationship

psychotherapy is complex, and is sometimes somewhatconfusing compared to other individual techniques. It istherefore considered to be a different clinical situation

which can not be assessed with parameters used in otherpsychotherapeutic contexts. From the same psychodynamicpoint of view, different therapeutic agents are used forchild-parent relationship psychotherapy. There are manytherapeutic factors that are hard to differentiate, such as:interpreting an unconscious relationship conveyed by thechild, signs and interpretations focusing on the here andnow of the observed interactions, being able to put a nameto the child’s behaviour and helping the parents interpretit, the parents’ identication with another adult which is

able to emotionally contain their child and observing itself,as a containing and caring attitude. These tools dene

different therapeutic proposals that are used in differentways in the clinical practice depending on the level ofconict presented by the child, and more importantly, the

family transference2,3. In this last instance, the mostimportant objective for child-parent relationshippsychotherapy must be to bring the parent(s) closer to theirchild, to build or rebuild a relationship characterised bydeciency or conict.

Optimising care resources on which the public network

relies to attend to a constantly increasing population,means that more efcient and precise therapeutic strategies

must be applied and researched, such as brevity andfocalisation. This has been proven by Sala et al,4 at theHospital Sant Pere Claver in their work on children over 4years old undergoing individual psychotherapy.

In cases where the child experienced a signicant organic

alteration at birth or which was diagnosed during the his/her rst few months, the psychotherapeutic approach

consists in assisting with the emotional dimension, providingcontainment for the family and helping them prepare forsituations of distress and fantasy that are generated.

Informing the parents of the diagnosis is understood to be apainful process which only starts in the hospital. Throughoutthis process, we offer to help parents emotionally understandwhat they are living, which has a positive effect on themand their relationship with their children. Our work involvesorganic problems, such as genetic syndromes or brain injurythat are detected at birth or in the rst two or three months,

causing different levels of mental retardation or motor orsensory delay. These families are normally referred to theCentro de Desarrollo Infantil y Atención Temprana (CDIAP ) by their doctor or hospital. They arrive grieving, feelingdisorientated and unsure of what the future holds for them,

and are not aware of what they can ask for or what theyneed.With this emotional outlook, the objective of regularly

offering a care space to the parents and their child, whohas suffered an organic alteration, is, on one hand, to beaware of the child’s development and his/her abilities andneeds, and on the other hand, to help build the rst

relationship between parents and a child, which they didnot expect would have problems. These therapeutic sessionshelp the relationship encounter. Sometimes professionalsfrom different medical disciplines attend these sessions.The purpose is to help the parents interpret their child’sbehaviour, to differentiate what is due to organic causes, to

understand and name the child’s own characteristics,abilities and difculties, and their relationship. They are

spaces in which parents are invited to play with their child


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Attention to the rst infancy (part II): assistance activity 31

in a game which represents dialogue between both membersof the relationship, and in which the parents are graduallyable to enjoy and identify with their child. These spaceshelp parents build a relationship with their child to whichthe subjective dimension is frequently denied to which“standardised” characteristics are attributed. From apsychodynamic point of view, the objective of achievingsubjective development is maintained, which is the growthdriver. This is in accordance with other contributions thathave been made to psychotherapeutic care for all infants,including this subpopulation.5,6

Healthcare: coordination with other teamsinvolved in the care network

At present, CDIAP’s coordination with the two large earlychildhood healthcare areas, paediatrics and teaching, canbe considered to be consolidated after more than a decadeof regular meetings. However, network work continuouslyincreases and more elaborate group-work methods can be

planned to provide increasingly integrated care.Coordination between several professionals that provide

care for the same child is one of the pillars of therapeuticcare for most cases. Coordination between differentdepartments that care for the same child offer the familycoherence, contributing to emotional containment,promoting treatment compliance, and ensuring that familieswith social problems can continue treatment. Coordinationwith paediatricians and teachers has served as a channel tosensitisation, prevention and detection. Regularlymaintaining stable coordination with centre professionals,paediatricians and teachers, means that the same

development model, development warning signs andupbringing criteria have gradually been shared, ensuringthat this care system is more coherent for the families. Thisconsistent coordination has created consolidated referenceand interconsultation channels.

The preventative value of toddler and infant healthcareis unquestionable. The social and cultural context in whichfamily life develops determines the upbringing systems with

which families care for their children, and the frameworkfor the rst fundamental relationships.7 In today’s society,there is not enough subjective time for parents and childrento understand each other and establish their own growthrhythms. It hinders development of the feelings involved inmaternity, parenting and child development. As a result,the current social outlook towards early childhood care isfor it to become a support for upbringing systems and alsobecome a space where mothers and fathers can regain theirrole as essential gures in their child’s growth.

Conict of interests

The author afrms that she has no conict of interests.

References

1. Stern D. La constelación maternal. Barcelona: Ediciones PaidósIbérica; 1997.

2. Palacio Espasa F, Knauer D. La técnica de la psicoterapia

psicodinámica breve madre-padre-hijo. Revista de Psicopatologíay Salud Mental del niño y del adolescente. 2003;1:9-18.

3. Tizón JL. La psicoterapia breve padres-hijo: ¿una técnicadiferenciada? Revista de Psicopatología y Salud Mental del niñoy del adolescente. 2003;1:43-70.

4. Sala J, Chancho A, Ger E, Miquel C, Montserrat A, Noguera R, etal. Psicoteràpia focal de nens: una aplicació del modelpsicoanalític a la Xarxa Pública. Unitat de PsicoteràpiaPsicoanalítica per a infants i Joves (UPPIJ). Sant Pere Claver.Fundació Sanitària. Barcelona: Ed. Grup del Llibre; 2009.Available at: www.fhspereclaver.org/webCAT/pdf/Llibre_Psicoterapia_focal_nens.pdf

5. Coriat E. El psicoanálisis en la clínica de bebés y niños pequeños.

Buenos Aires: La Campana; 1996.6. Pérez de Plá E, Carrizosa S (comp.). Sujeto, Inclusión yDiferencia: Investigación psicoanalítica y psicosocial sobre elsíndrome de Down y otros problemas del desarrollo. México:Universidad Autónoma Metropolitana; 2000.

7. Torras de Beà E. Las interacciones tempranas actuales y susdestinos. 2009. Available at: http://www.fetb.org/recerca-i-publicacions/las-interacciones-tempranas-actuales-y-sus-destinos.htm


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NEWS/ANNOUNCEMENTS/MEETINGS

Premio Reina Sofía 2010 awarded to FCSD

The Royal Trust for the Disabled, under the Presidency ofHer Majesty the Queen, awarded the Premio Reina Sofía2010 for the Prevention of Disability, to the FundacióCatalana Síndrome de Down, for its working group of the

Down’s Medical Centre, resulting in real social andoccupational integration.

The presentation of the award, Presided over by HerMajesty the Queen, took place on the 3rd of March inZarzuela Palace. We reproduce the speech MontserratTrueta, Chair of the Fundació Catalana Síndrome de Down,in acknowledgement of receiving such a prestigious award.

Your Majesty, Honourable Ministers, General Secretary ofthe Royal Trust, Vice-Chairman of the Pedro Barrié de laMaza Foundation, Invited Guests, Friends,

In 1986, from the Fundació Catalana Síndrome de Down we presented the rst Preventive Health Program in Spain.

As a response to a lack of multidisciplinary health care forpeople with Down’s Syndrome, the Down’s Medical Centrewas created the following year with the aim of making themedical community aware and getting them involved. Todayit is a national and international reference centre. It is theonly one that combines medical care with research workand teaching. For this, we have a team of medicalprofessionals, directed by Dr. Josep M. Corretger, whichcovers 19 specialties, and with the most extensive database in the world. This work has led to numerouscontributions, highlighting, the Growth tables for Spanish

boys and girls with Down’s syndrome, which are used anational reference, and in books and scientic publications

aimed at doctors and families.In the last few years, the life expectancy of people with

Down’s syndrome has increased signicantly. Care, from birthto adulthood, improves the quality of life and can increasetheir development and their inclusion into society. Anotherwork covered by the Foundation.

In this world full of difculties, this Award which you

present us today, makes us proud and encourages theFoundation at all levels to continue working with moreeffort, if possible, for the wellbeing of people with Down’ssyndrome and their families.

Thank you very much.Madrid, March 3, 2011

Call for applications for the 12th Ramon Trias Fargas Awardfor Research on Down’s SyndromeThe Ramon Trias Fargas Award for Research on Down’s Syndrome is awarded with 6000 € every two years along with a bronzereproduction of the Mare/Infant sculpture by Antoni Vancells. End date: October 8, 2011. Conditions of the award:www.fcsd.org

Reial Acadèmia de Medicina de CatalunyaPresentation, Manuel Cruz Hernández

Included: Psychosocial Problems in Down’s Syndrome (Josep M. Corretger Rauet)

revista int sd down (ingles)

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