ISSN: 1138-011X

Indexed in:
Scopus, EMBASE/Excerpta Medica,
ndice Mdico Espaol (IME),
ndice Bibliogrfico Espaol en Ciencias
de la Salud (IBECS)

SD
Volume 15Number 2

July

2011

international
medical review on
downS syndrome

Contents

Editorial

17 Farewell Charles!

A. Sers Santamara

Original article

18 Attention deficit disorder in children with Downs

syndrome
M. Hernndez Martnez, X. Pastor Duran and J. Navarro Navarro

Case report

23 The skin and its manifestations in children

with Downs syndrome
M.D. Pozo Cano, E. Gonzlez Jimnez, J. lvarez Ferre,
E. Martnez Garca and M.C. Navarro Jimnez

26 Achondroplasia and Downs syndrome

S. Santos, T. Silva and M. Pinto

Psychopedagogical advances

29 Attention to the first infancy (II):

assistance activity

M. Golan Fornells

32 News/Announcements/Meetings
Premio Reina Sofa 2010 Giving Speech

DS

International medical review

on downS syndrome

www.fcsd.org

www.elsevier.es/sd

SD

international
medical review on
dow'n syndrome

Editorial Committee

Scientific Committee

Editor: Josep M. Corretger

Editor-in-Chief: Agust Sers
Editorial and Coordination: Katy Trias Trueta

Cardiology: J. Casaldliga
Dermatology: J. Ferrando
Dietetics-nutrition: N. Egea
Endocrinology: A. Goday
Maxillofacial Surgery: A. Monner
Genetics: A. Sers
Geriatrics: C. Farriols
Gynaecology: J. Cararach
General Medicine: A. Garnacho
Child Neurology: A. Nascimento
Adult Neurology: R. Rocamora
Dentistry and Orthodontics: M. A. Mayoral
Child Ophthalmology: A. Galn
Adult Ophthalmology: J. Puig, S. Simn
Ear, Nose and Throat: J. Domnech
Paediatrics: J. M. Corretger
Psychology: B. Garva
Psychiatry: J. Barba
Traumatology and Orthopaedics: F. Torner

Medical Advisers
F. Ballesta Martnez
M. Cruz Hernndez
J. Moreno Hernando
S. M. Pueschel (USA)

Psycho-pedagogy advisers
FCSD Team
J. M. Jarque
T. Vil
L. Brown (USA)

Editorial Secretary
Mar Cabezas

21

FUNDACI CATALANA SNDROME DE DOWN

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in basic sciences, such as molecular biology and genetics, to daily clinical practice; and on the other hand, to look at those psychopedagogical
aspects, that, due to their relationship with the medical field ,could be of practical interest for general and specialist paediatricians associated
with Downs Syndrome. SD will consider publishing clinical or research articles associated with all branches of Downs Syndrome.
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ISSN: 1138-011X

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

international
medical review
on downS syndrome

www.fcsd.org

www.elsevier.es/sd

EDITORIAL

Farewell Charles!
A. Sers Santamara
Medical Coordinator Fundaci Catalana Sndrome de Down

When one has had the opportunity to know a person like

Charles Epstein, with whom one has shared many scientific
projects, academic collaborations, as well as social ones,
always with the common denominator of study, work and the
fight in favour of people with Downs syndrome, this leaves
an impression that is engraved in the heart. This is what
happened between Charles Epstein and the Catalan Downs
Syndrome Foundation (FCSD), the people who knew him and
worked with him will not be able to forget him, particularly
for his capacity for work and study. Neither can we forget
the 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 1990s, when he, as Chairman of the Scientific Committee
of the National Down Syndrome Society (NDSS), organised
the conference in Charleston, in the United States. This
meeting was attended by scientists, medical professionals
and people involved with Downs syndrome. The FCSD was
represented by its Chairman and by the medical coordinator.
From then on, lines of communication and bonds of
friendship were established between us, at a personal and
institutional level.
In this same conference, in a session restricted to medical
professionals, the embryo of the DSMIG (Down Syndrome
Medical Interest Group) began to grow, which would later
be driven and led for many years by another good friend of
the FCSD, William Cohen, who died 2 years ago. Charles was
the first 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 Down
Syndrome Conference in Barcelona in 1996, which was very
successful and well attended. He, as Chairman of the
Scientific 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. Charles

supported our option and suggested that the NDSS should be
in the organisation of the Conference.
These are just a small sample of the feeling that Charles
Epstein had for the FCSD. He took part in many occasions in
events organised by us (Workshops, Conferences, Scientific
Meetings), all with great success and with a particular
sensitivity. He was also a consultant to this journal.
Unfortunately, in February of this year, the communication
media recorded his death, more for being a victim of
terrorism, a subject that he did not like to talk about, than
for his abundant scientific work on helping people with
Downs syndrome.
Charles Epstein, born in Philadelphia in 1933, and
Graduate in Chemistry and Medicine in Harvard University.
In 1967 he joined the University of California, where he was
Professor of Genetics in the San Francisco campus UCSF.
Chairman of the Scientific Committee of the NDSS from
1979 to 2000, was a person very involved in the discovery of
the genetic origin and the effects of the third copy of the
chromosome 21 in Downs syndrome.
We must not let this opportunity pass to clearly
acknowledge Charles Epstein for all these, so many and
always good, things. Charles will not stop being a reference
in the study of Downs syndrome, and for this purpose the
Charles J. Epstein Down Syndrome Research Award was
created by NDSS.
A few weeks ago Pedro Otn also left us, a likeable
person, and one of the great fighters in our country for the
social integration of people with Downs syndrome. With
these words we would like record to his family and his close
friends, our most sincere sorrow for their loss. Pedro left a
very high standard within Down Espaa; we hope that the
person who takes over from him may direct the institution
with same wise skills.

1138-011X/$ - see front matter 2011 Fundaci Catalana Sndrome de Down. Published by Elsevier Espaa, S.L. All rights reserved.

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

international
medical review
on downS syndrome

www.fcsd.org

www.elsevier.es/sd

ORIGINAL article

Attention deficit disorder with or without hyperactivity

or impulsivity in children with Downs syndrome
M. Hernndez Martneza,*, X. Pastor Duranb and J. Navarro Navarroc
Pediatrics Service, Centre Mdic Down, Fundaci Catalana Sndrome de Down, Barcelona, Spain
Pediatrics Service, Hospital Clnic, Universidad de Barcelona, Barcelona, Spain
c
Pediatrics Service, CAP Collblanc, LHospitalet de Llobregat, Barcelona, Spain
a

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

KEYWORDS
Downs syndrome;
School performance;
Attention deficit
disorder with or
without hyperactivity;
Diagnosis;
Comorbidity

PALABRAS CLAVE
Sndrome de Down;
Rendimiento escolar;
Trastorno por dficit
de atencin con
o sin hiperactividad;
Diagnstico;
Comorbilidad

Abstract
Children with Downs syndrome show a higher prevalence of attention deficit disorder
with or without hyperactivity or impulsivity (ADHD) than the rest of the general population.
The diagnosis and identification of ADHD is important because it can affect performance
at school and cause behavioural disturbances.
This research study has two objectives. First of all, in this review we consider the
repercussions that ADHD has on Downs syndrome children. Secondly, we present a
systematic analysis of the articles published in the scientific literature relating to the
tests used to diagnose ADHD in DS children.
2011 Fundaci Catalana Sndrome de Down. Published by Elsevier Espaa, S.L. All rights
reserved.
Trastorno por dficit de atencin con o sin hiperactividad en los nios con sndrome
de Down
Resumen
Los nios con sndrome de Down tienen una prevalencia ms elevada que el resto de
poblacin general de presentar trastorno por dficit de atencin con o sin hiperactividad
o impulsividad (TDAH). El diagnstico e identificacin del TDAH es importante porque
puede afectar el rendimiento escolar y causar trastornos de la conducta.
El objetivo de este trabajo es doble. En primer lugar, se considera en esta revisin la
repercusin del TDAH en los nios con sndrome de Down. En segundo lugar, se presenta
un anlisis sistemtico de los artculos publicados en la bibliografa cientfica relativos a
los tests utilizados para el diagnstico de TDAH en nios con sndrome de Down.
2011 Fundaci Catalana Sndrome de Down. Publicado por Elsevier Espaa, S.L. Todos
los derechos reservados.

*Corresponding author.
E-mail: 21583mhm@comb.cat (M. Hernndez Martnez).
1138-011X/$ - see front matter 2011 Fundaci Catalana Sndrome de Down. Published by Elsevier Espaa, S.L. All rights reserved.

Attention deficit disorder with or without hyperactivity or impulsivity in children with Downs syndrome

Attention deficit disorder with or without

hyperactivity or impulsivity and Downs
syndrome
Attention deficit disorder with or without hyperactivity or
impulsivity (ADHD) affects approximately 3%-7% of
schoolchildren in the general population,1 whilst in mentally
handicapped children this figure is as high as 14.8%2 and, in
Downs syndrome (DS), it can reach 9%.3 The cardinal
symptoms are lack of attention, hyperactivity and
impulsivity. The parents of children and adolescents with DS
have described more behavioural disturbances and problems
related with attention when they compare them with
siblings who have shown normal development.4 Greater
hyperactivity has also been described in DS children from
5-11 years of age when they are compared with a sibling
group.5
ADHD is a genetic neurobiological disorder. In this
disorder, there are functional and anatomical changes in
the prefrontal cortex and its connections with the basal
nuclei (especially the striate nucleus) and the cerebellum,
predominantly involving catecholaminergic pathways and
their neurotransmitters, dopamine and noradrenaline.
In a recent study conducted at the University of Cardiff,6
it was demonstrated that children with ADHD exhibit a
greater number of DNA deletions or duplications, which are
known as copy number variations (CNV), in comparison with
children who do not have this syndrome. CNV cause the
genes which are found in affected regions to be more or less
active than they ought to be, leading to the production of
excessive or insufficient amounts of the proteins which they
code for. It has been postulated that, depending on the
genes affected, children with ADHD will manifest one or
other subtype of the disorder and, depending on the number
of copies of each gene, ADHD intensity will vary.
There are two important concepts which can help us to
understand how ADHD and DS are related: dual diagnosis
and behavioural phenotype.
The term dual diagnosis, coined by Lovell and Reiss in
19937 and introduced in Spain by Novell in 1999, is used to
refer to a person who is mentally retarded and has a
psychiatric disorder.7 In the past it was not generally
accepted that mentally handicapped people could, at the
same time, have a mental disease. Nowadays, it is recognised
that psychiatric disorders and mental retardation can occur
in the same person. Consequently, these disorders can
benefit from medical treatment. Dual disorder can affect
up to 18%-38% of children with DS.2
The behavioural phenotype concept8 means the
heightened probability or likelihood that people with a
given syndrome are will exhibit certain behavioural and
developmental sequelae relative to those without the
syndrome.
In ADHD inattention is manifested as difficulty in
concentrating on an activity. The person appears not to
listen when they are spoken to, is disobedient, easily
distracted and restless, fails to pay attention, forgets and
loses things, and avoids tasks that require sustained mental
effort. Hyperactivity or impulsivity are characterised by
restlessness, excessive activity (running about or jumping)
in inappropriate situations and these children find it difficult

19

Table 1 Disorders which show comorbidity with ADHD

Tourettes syndrome/Obsessive-compulsive disorder
Generalised developmental disorders
Autistic disorder
Aspergers syndrome
Generalised non-specific developmental disorder
Communication disorder (specific language disorder)
Learning difficulties
Dyslexia
Dyscalculia
Dysgraphia
Non-verbal learning disorder
Developmental coordination disorder
Behavioural disturbances
Anxiety disorders
Depression and other affective disorders

to remain seated. They talk non-stop, act without thinking

and find it difficult to wait their turn. All this leads to a
deterioration in their social relationships and performance
at school. The symptoms in DS children may appear before
the age of three.9
Hyperactivity and impulsivity mean that children with DS
and ADHD have a high risk of hurting themselves as a result
of an accident, running away, getting lost, etc.
It is necessary to establish a differential diagnosis of
ADHD in children with DS. Hyperthyroidism, hearing loss
and sleep apnoea10 and the side effects of certain
medications, 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 oppositional
defiant disorder , 20%-40% an antisocial behaviour disorder,12
25% anxiety disorders, 24% mood disorders, and 12% have a
nervous tics, as well as learning difficulties. There is also a
strong link between autistic spectrum disorders and ADHD
and DS.13

Diagnosis of ADHD, assessment scales

and treatment
The diagnosis of ADHD is basically clinical. It is essential to
prepare a detailed medical history in order to evaluate the
symptoms. It must include DSM-IV-TR clinical criteria
(table 2)14 and demonstrate the existence of functional
repercussions which have a significant effect on the
patients quality of life. The symptoms must be present in
two or more settings, for example at school and at home.
There are three ADHD subtypes: the inattentive type (if
inattention signs predominate), the hyperactive-impulsive
type, and the combined type (if there are manifestations
of both subtypes). The most common subtype is combined
ADHD and the subtype which is most difficult to diagnose
is inattentive ADHD. The hyperactive-impulsive type is the
least common form.

20

M. Hernndez Martnez et al

Table 2 DSM-IV-TR ADHD criteria

Table 3 Strengths and Difficulties Questionnaire (SDQ)

These criteria require 6 to 9 variables related to

attention deficit and hyperactivity-impulsivity to be met.
They are as follows:

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:

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
finish 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 doesnt 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 fidgets 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
finished.
Often has trouble waiting ones turn.
Often interrupts or intrudes on others (e.g. butts into
conversations or games).

Emotional symptoms.
Behavioural problems.
Hyperactivity.
Problems with classmates, companions, etc.
Positive socialisation conduct.

1. Considerate of other peoples 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 fidgeting or squirming.
11. Has at least one good friend.
12. Often fights 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
confidence.
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.

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.

There is no specific marker or neuroimaging test that can

aid diagnosis. Assessment scales are not diagnostic as such,
but they are only useful for collecting data and determining
whether diagnostic criteria are met. Making a diagnosis of
ADHD in a DS child may be more difficult because some signs
of ADHD and other comorbid disorders may be attributed to
the childs 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 of

the child and it is important to consider their mental age,
taking as a basis their developmental age and not strictly
their chronological age.
The methods used in diagnostic assessment include
screening and specific questionnaires. The most widely used
screening instruments are: the Strengths and Difficulties
Questionnaire (SDQ) (table 3), Rutter, Child Behavior
Cheklist (CBCL) and Conners tests. The specific psychometric
tests used for ADHD are: Schedule for Nonadaptive and
Adaptive Personality IV (SNAP IV) and DuPauls Attention
Deficit Hyperactivity (ADH) Rating Scale (table 4).
Below are the psychometric tests which are most widely
used in the population diagnosed with psychopathology. In
this study the PUBMED database was used, establishing a
search strategy for the period from 1986 to 2010 and

Attention deficit disorder with or without hyperactivity or impulsivity in children with Downs syndrome

21

Table 4 Conners scale revised

Not at all

Seldom

Quite often

Often

1. Displays excessive motor restlessness

2. Has learning difficulties at school
3. Disrupts other children
4. Is often distracted/pays little attention
5. Expects immediate satisfaction of demands
6. Has difficulty 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 fights 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 school
19. His/her efforts are easily frustrated
20. Has difficulty accepting the indications of the teacher

employing Medical Subject Heading (MeSH) descriptors. The

descriptors that we selected were: Downs syndrome,
Attention deficit disorder with or without hyperactivity and
diagnostic instrument.
1. Reiss Scales for Childrens. These behavioural assessment
scales were specifically designed for screening and
diagnosing psychopathology in children diagnosed with
dual disorder. They have been used in children with DS.15
2. Rutter Behavioural Scale. Gath and Gumley16 used it in
1986 in a sample of DS children from state schools. They
estimated the prevalence of important behavioural
problems, infantile autism, childhood psychosis,
emotional disturbance and hyperactivity, revealing
significant differences in the behavioural patterns of DS
children and another group of mentally retarded children
with similar characteristics (age, sex and mental and
physical impairment).
3. DSM-III-R criteria. Myers and Pueschel17 used them in
1991 to determine the prevalence of psychiatric disorders
in 497 children with Downs syndrome, based on clinical
outpatient visits. Amongst the most common diagnoses,
infantile autism, repetitive stereotyped behaviour,
anxiety disorders, behavioural disturbances, hyperactivity
and attention deficit were detected.
4. Developmental Behaviour Checklist (DBC). This
questionnaire, containing 96 items, is designed to
evaluate the emotional and behavioural problems of
mentally retarded children from 4 to 18 years of age. The
questions 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 by
Achenbach in 1991. It was initially used as a diagnostic

screening tool at a mental health unit to assess behavioural

problems in minors, including DS children.18 It is widely
used in clinical practice and research, owing to its
demonstrated reliability and validity. One of its drawbacks
is that it comprises over 150 items and its interpretation
is time-consuming and requires computer skills.
6. Strengths and Difficulties Questionnaire (SDQ). Known in
Spanish as the Cuestionario de Dificultades y Capacidades,
it is a wide-spectrum scale, which was developed by
Robert Goodman at the Institute of Psychiatry in London
in 1997. It is the most widely used scale in the world and
it is a short test consisting of only 25 attributes, which is
easy to use in paediatric visits. It addresses the presence
of emotional disturbances, behavioural problems,
hyperactivity, and problems with classmates, etc. It is an
instrument which has been well validated in the Spanish
population. The SDQ can be a useful option for screening
for psychiatric disorders and also as an aid during the
first phase in the diagnosis of ADHD in DS children.19 It
assesses children and teenagers from 4 to 16 years of age
and 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 of
5 factors and 58 items. In Spanish it is known as the
Escala de Comportamiento Anmalo. Capone20 uses it in
his study on the comorbidity of autistic spectrum disorders
and 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 two
9-item sections, which represent the domains of
inattention and hyperactivity / impulsivity respectively.

22
9. Conners Rating Scale (CRS-R). It consists of 4 subscales:
oppositional, cognitive problems and inattention,
hyperactivity and ADHD index showing the risk of
developing the disorder.
10. ADHD Rating Scale-IV. Proposed by DuPaul, it contains
18 items which are directly related to the DSM-IV
diagnostic criteria for ADHD.
The most effective treatment for ADHD is multimodal, in
other words, a combination of medication and behavioural
therapy, the latter consisting of individualised psychoeducational measures both in the school and at home. The
drug of choice is methylphenidate, which regulates the
dopaminergic system. The use of methylphenidate is
indicated in mentally retarded children if there are ADHD
symptoms which are intense and disproportionate to their
underlying pathology. However, treatment must be initiated
by professionals who are familiar with the disorder and they
will subsequently have to monitor their patients, adjusting
the dose, depending on the response. Children with SD must
be closely monitored due to the simultaneous presence of
other pathologies.

Conclusion
Both early diagnosis and prompt therapeutic measures
improve the learning ability and quality of life of these
children and their families, and they can substantially
reduce the comorbidity associated with ADHD, which is
always a bad prognostic factor.
The diagnosis of ADHD is complex and more so in DS
children, and there are no specific standardised scales for
them, although there are general scales for making a
preliminary diagnosis. We need to continue investigating
the applicability of the most appropriate scales for these
children in clinical practice.

Conflict of interests
The authors affirm that they have no conflict of interests.

References
1. Martn D, Fernndez A. Trastorno por dficit de atencin/
hiperactividad. Acta Pediatr Esp. 2010;68:227-34.
2. Hastings RP, Beck A, Daley D, Hill C. Symptoms of ADHD and
their correlates in children with intellectual disabilities. Res
Dev Disabil. 2005;26:456-68.

M. Hernndez Martnez et al
3. Gath A, Gumley D. Behaviour problems in retarded children
with special reference to Downs syndrome. Br J Psychiatry.
1986;149:156-61.
4. Green JM, Dennis J, Bennets LA. Attention disorder in a group
of young Downs syndrome children. J Ment Defic Res.
1989;33:105-22.
5. Pueschel SM, Bernier JC, Pezzullo JC. Behavioural observations
in children with Downs syndrome. J Ment Defic Res.
1991;35:502-11.
6. Williams NM, Zaharieva I, Martin A, et al. Rare chromosomal
deletions and duplications in attention- deficit hyperactivity
disorder: a genome- wide analysis. Lancet. 2010;376:
1401-8.
7. Lovell RW, Reiss AL. Dual diagnoses. Psychiatric disorders in
developmental disabilities. Pediatr Clin North Am. 1993;40:
579-92.
8. Dykens EM. Measuring behavioral phenotypes: provocations
from the new genetics. Am J Ment Retard. 1995;99:
522-32.
9. Carskadon MA, Pueschel SM, Millman RP. Sleep-disorderd
breathing and behavior in three risk groups: preliminary findings
from parental reports. Childs Nerv Syst. 1993;9:452-7.
10. Marcus CL, Keens TG, Bautista DB, Von Pechmann WS, Ward SL.
Obstructive sleep apnea in children with Down syndrome.
Pediatrics. 1991;88:132-9.
11. Artigas-Pallars J. Comorbilidad en el trastorno por dficit de
atencin e hiperactividad. Rev Neurol. 2003;36(Supl 1):68-78.
12. Barkley RA, Fischer M, Smallish L, Fletcher K. Young adult
follow-up of hyperactive children: antisocial activities and
drug use. J Child Psychol Psychiatry. 2004;45:195-211.
13. Carter JC, Capone GT, Gray RM, Cox CS, Kaufmann WE. Autisticspectrum disorders in Down syndrome: further delineation and
distinction from other behavioral abnormalities. Am J Med
Genet B Neuropsychiatr Genet. 2007;144B:87-94.
14. Lpez-Ibor JJ, Valds M. DSM-IV-TR. Manual diagnstico y
estadstico de los trastornos mentales. Texto revisado.
Barcelona: Masson SA; 2002.
15. Clark D, Wilson GN. Behavioral assessment of children with
Down syndrome using the Reiss psychopathology scale. Am J
Medical Genetics. 2003;118(A):210-6.
16. Gath A, Gumley D. Behaviour problems in retarded children
with special reference to Downs syndrome. Br J Psychiatr.
1986.149:156-61.
17. Myers BA, Pueschel SM. Psychiatric disorders in persons with
Down syndrome. J Nerv Ment Dis. 1991;179:609-13.
18. Pueschel SM, Bernier JC, Pezzullo JC. Behavioural observations
in children with Downs syndrome. J Ment Defic Res. 1991;35(Pt
6):502-11.
19. Nicham R, Weitzdorfer R, Hauser E, Freidl M, Schubert M, Wurst
E, et al. Spectrum of cognitive, behavioural and emotional
problems in children and young adults with Down syndrome. J
Neural Transm Suppl. 2003;67:173-91.
20. Capone GT, Grados MA, Kaufmann WE, Bernad-Ripoll S, Jewell
A. Down syndrome and comorbid autism-spectrum disorder
characterization using the aberrant behaviour checklist. Am J
Med Genet A. 2005;134:373-80.

Rev Med Int Sindr Down. 2011;15(2):23-25

international
medical review
on downS syndrome

www.fcsd.org

www.elsevier.es/sd

CASE REPORT

The skin and its manifestations in the clinical history of children

with Downs syndrome
M.D. Pozo Canoa,*, E. Gonzlez Jimneza, J. lvarez Ferreb, E. Martnez Garcaa
and M.C. Navarro Jimneza
Department of Nursery, Faculty of Health Sciences, University of Granada, Granada, Spain
Hospital Universitario San Rafael, Granada, Spain

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

KEYWORDS
Downs syndrome;
Children;
Skin lesions

PALABRAS CLAVE
Sndrome de Down;
Nios;
Lesiones cutneas

Abstract
Chromosomal disorders are not usually associated with specific alterations of the skin,
with Downs syndrome being an exception, because the skin of the newborn with this
syndrome 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 mucous
membranes, macroglossia and scrotal tongue with protrusion and cleft lip are very
common features. Premature aging of the skin and photosensitivity are common features
in these patients. The following are among the most significant skin disorders: cutis
marmorata, xerosis, palmoplantar hyperkeratosis, cheilitis, seborrhoeic dermatitis,
folliculitis, tinea pedis, onychomycosis, crusted scabies (Norwegian scabies), atopic
dermatitis, alopecia areata, vitiligo, psoriasis (severe form), pityriasis rubra pilaris,
syringoma, elastosis perforans serpiginosa and cutis verticis gyrata. The aim of this study
was to carry out a review of existing literature on major dermatological processes and
their prevalence in the paediatric patient with Downs syndrome.
2011 Fundaci Catalana Sndrome de Down. Published by Elsevier Espaa, S.L. All rights
reserved.

La piel y su expresin en la clnica del nio con sndrome de Down

Resumen
Los desrdenes cromosmicos normalmente no se encuentran asociados a alteraciones
especficas de la piel, pero hay una excepcin en el caso del sndrome de Down, ya que
la piel del recin nacido con este sndrome es suave, delgada, delicada. Posteriormente
se torna ms gruesa, seca y spera, y es comn la presencia de xerosis generalizada asociada a queratosis pilar. En el caso de las mucosas, la macroglosia y la lengua escrotal,

*Corresponding author.
E-mail: pozocano@ugr.es (M.D. Pozo Cano).
1138-011X/$ - see front matter 2011 Fundaci Catalana Sndrome de Down. Published by Elsevier Espaa, S.L. All rights reserved.

24

M.D. Pozo Cano et al

con protrusin y fisura del labio inferior, resultan rasgos muy frecuentes. El envejecimiento temprano de la piel y la fotosensibilidad son caractersticas habituales en estos
pacientes. Entre las alteraciones de la piel ms considerables encontramos cutis marmorata, xerosis, hiperqueratosis palmoplantar, queilitis, dermatitis seborreica, foliculitis,
tinea pedis, onicomicosis, sarna costrosa (sarna noruega), dermatitis atpica, alopecia
areata, vitligo, psoriasis (forma grave), pitiriasis rubra pilaris, siringoma, elastosis perforante serpiginosa y cutis verticis girata. El objetivo de este trabajo ha sido llevar a cabo
una revisin de la bibliografa existente sobre los principales procesos dermatolgicos y
su prevalencia en el paciente peditrico con sndrome de Down.
2011 Fundaci Catalana Sndrome de Down. Publicado por Elsevier Espaa, S.L. Todos
los derechos reservados.

Introduction
Downs syndrome (DS) is a chromosomal disorder which was
first described by John Langdon Down in 1866.1 However, it
was not until 1959 when Jerome Lejeune described one of
the three possible chromosomal anomalies that caused this
disorder: trisomy of chromosome 21.2 However, it is known
that it can be caused by three types of anomalies: free
trisomy of chromosome 21, chromosomal translocation, and
mosaicism, the last one being the least common subtype.
Free or regular trisomy of chromosome 21 is the most
common form of Downs syndrome and is responsible for
95% of cases.3,4
A woman is at greater risk of conceiving a child with Downs
syndrome the older she is.4 This is reflected in the incidence
of this syndrome according to the different maternal ages.
Thus, between the age of 15 and 29, the risk of having a child
with Downs syndrome is 1:1500 live births, between 30 and
34 years old 1:800, between 35 and 39 years old 1:270 and
between 40 and 44 years old 1:100. In women over 45 years
old, its incidence is even higher, 1 in every 50 live births.4
This statistic shows the importance and effect that the
mothers age has on the development of this disorder.
From a clinical point of view, Downs syndrome is a
multisystemic pathological disorder given the high number
of associated physiological alterations.5 Thus, paediatric
patients with Downs syndrome just as in adults may show a
series of features and abnormalities in the internal organs.6
Among the most common it is worth highlighting are flat
occiput and nasal bridge, upslanted palpebral fissures,
excess skin at the nape of the neck, Brushfield spots
(whitish-grey spots on the iris),7 brachydactyly (small hands
and feet), single palmar crease, clinodactyly of the fifth
finger, among others. These features, which are associated
with a marked hypotonia and congenital cardiomyopathies,
are found in 40% of cases and they are, therefore, considered
as the main physical findings. Mental retardation is a
constant in this type of patient.8
Other possible significant findings are duodenal atresia,
frequent respiratory infections, thyroid disorders
(hypothyroidism), as well as a considerable increase in the
incidence of leukaemia.9 Puberty is generally delayed and is
often not completed. It is important to mention that
chromosomal disorders are not usually associated with
specific skin conditions. However, in our case, Downs

syndrome is an exception. The skin of a child with Downs

syndrome is soft, thin and delicate compared to the skin of
a newborn baby without this syndrome and they may have
features such as cutis marmorata and malar erythema.10
The skin becomes thicker, dryer and rougher during infancy
and generalised xerosis associated with pilar keratosis is
common. In the case of mucous membranes, macroglossia
and scrotal tongue with protrusion and cleft lip are very
common features. Premature aging of the skin and
photosensitivity are common features.11
Abnormal cell-mediated and humoral immunity, seen
essentially in a decrease in the number and function of the B
and T lymphocytes, along with a deficient phagocytosis, causes
infectious dermatological processes to appear and develop.
The following are among the most significant skin disorders:
cutis marmorata, xerosis, palmoplantar hyperkeratosis,
cheilitis, seborrhoeic dermatitis, folliculitis, tinea pedis,
onychomycosis, crusted scabies (Norwegian scabies), atopic
dermatitis, alopecia areata, vitiligo, psoriasis (severe form),
pityriasis rubra pilaris, syringoma, elastosis perforans
serpiginosa and cutis verticis gyrata.12 There are few
epidemiological research studies on skin conditions in DS.13

Objective
The main objective to be developed in this study was to
carry out a review of the existing literature of the main
dermatological processes and their prevalence in paediatric
patients with Downs syndrome.

Material and methods

In order to prepare this study we had to carry out a review
of the clinical characteristics and frequency of the main
skin conditions of 90 paediatric patients with Downs
syndrome. These were obtained from 50 scientific studies
published in the last 4 years.
It was a retrospective-descriptive study including a
bibliographic search in Medline and Cochrane. We selected
48 articles from the last 4 years on skin conditions in
children with Downs syndrome. A detailed analysis was
carried out to try and define the main clinical features
described by the different authors.

The skin and its manifestations in the clinical history of children with Downs syndrome
70
57,7

60
50

18,8

22,2

26,6

have been studied the least and as a result, are the least
well-known. The absence of in-depth studies on these
conditions means that new data desperately needs to be
contributed in order to shed more light on existing studies.
The results that we found in this review were compared
with those from other studies and we found some differences,
probably due to the methodological criteria and criteria
used to select the sample.

11,1

Xerosis

Malar erythema

Mongolian spots

Palmoplantar hyperkeratosis

Cutis marmorata

Pilar keratosis

Caf-au-lait spots

Nappy rash

Seborrhoeic dermatitis

Conclusion
Atopic dermatitis

67,7

33,3

30

10

65,5

44,4

40

20

62,2

25

We believe that the data reported here will be useful to add

to and expand upon existing knowledge as well as to improve
the understanding of the special dermatological features
that arise in children with Downs syndrome.

Conflict of interests
The authors affirm that they have no conflict of interests.

Xerosis
Malar erythema
Mongolian spots
Palmoplantar hyperkeratosis
Cutis marmorata

Pilar keratosis
Caf-au-lait spots
Nappy rash
Seborrhoeic dermatitis
Atopic dermatitis

Figure 1 Main skin disorders and its prevalence in children

with Downs syndrome.

Results
In accordance with the literature consulted, it is possible
to reach the conclusion that the main lesions in terms
of frequency and associated complications are the
following:
Xerosis, described in 61 subjects and with a prevalence of
67.7%. Another of the most prevalent skin complications was
malar erythema, which was described in 59 cases, with a
total prevalence of 65.5%. Mongolian spots were found in up
to 56 cases. This represents 62.2% of skin disorders.
Palmoplantar hyperkeratosis is another of the most prevalent
skin disorders in these patients. It was described in 52 out of
90 patients assessed (57.7% of the cases). Cutis marmorata
as a dermatological feature was found in up to 40 of the
subjects studied, with a prevalence of 44.4%. Pilar keratosis
was found in 30 out of the 90 patients (33.3%). Caf-au-lait
spots were found in 24 cases (26.6%). Nappy rash was also
found in 22.2% of the cutaneous lesions and was present in
20 of the subjects studied. Seborrhoeic dermatitis was only
found in 17 patients (18.8%) and atopic dermatitis in 10
patients (11.1%). The results are shown in figure 1.

Discussion
From a clinical point of view, the dermatological symptoms
associated with Downs syndrome in paediatric patients

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 of
Downs 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 skin
in 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 of
Downs syndrome. J Cutan Med Surg. 2001;5:289-93.
8. Schepis C, Romano C. Cutaneous findings in the mentally
retarded. Int J Dermatol. 1996;35:317-22.
9. Hitzler J, Cheung J, Li Y, Scherer S, Zipursky A. GATA1 mutations
in transient leukaemia and acute megakaryoblastic leukaemia
of Down syndrome. Blood. 2003;101:4301-4.
10. Schepis C, Barone C, Siragusa M, Romano C. Prevalence of
atopic dermatitis in patients with Down syndrome: a clinical
survey. 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. Am
J Med Genet Supplem. 1990;7:324-5.
12. Ercis M, Balci S, Atakan N. Dermatological manifestations of 71
Down 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. An
update survey on skin conditions in Down syndrome. Dermatol.
2002;205:234-8.

Rev Med Int Sindr Down. 2011;15(2):26-28

international
medical review
on downS syndrome

www.fcsd.org

www.elsevier.es/sd

case report

Achondroplasia and Downs syndrome case report of a rare

association
S. Santos*, T. Silva and M. Pinto
Hospital Dona Estefnia, Lisboa, Portugal
Received on December 2, 2011; accepted on May 3, 2011

KEYWORDS
Achondroplasia;
Downs syndrome;
Development disability

PALABRAS CLAVE
Acondroplasia;
Sndrome de Down;
Trastorno del desarrollo

Abstract
The association of achondroplasia and Downs syndrome is very rare and only five cases
have been reported in the literature so far. These two genetic alterations have overlapping
features such as short stature, developmental delay or hypotonia that complicate
management and follow up.
We report the case of a girl that is unique since she was born from a mother with
achondroplasia and a healthy father. Achondroplasia was dominantly inherited from the
mother but at birth she had features of Downs syndrome as well, confirmed later by
kariotype. We review her evolution regarding physical health, cognitive problems and
adaptive behavior during her eight years of life.
To our knowledge this is the first report of the combination of both disorders in which the
achondroplasia was inherited and not a de novo mutation. We address the problems
resulting from the additional burden of having two disorders, and how they can be
improved, aiming to help others in the future to deal with these cases.
2011 Fundaci Catalana Sndrome de Down. Published by Elsevier Espaa, S.L. All rights
reserved.

Acondroplasia y sndrome de Down: historia clnica de una asociacin poco comn

Resumen
La asociacin entre acondroplasia y sndrome de Down es muy poco comn y hasta hoy
solamente se han descrito cinco casos en la bibliografa. Estas dos alteraciones genticas
tienen caractersticas que coinciden, como la baja estatura, el retraso en el desarrollo o
la hipotona, que complican el tratamiento y el seguimiento.
Presentamos el caso de una nia que es nico, ya que es hija de una madre con acondroplasia y un padre sano. La acondroplasia la hered predominantemente de la madre,
aunque en el nacimiento tambin present rasgos de sndrome de Down, confirmados

*Corresponding author.
E-mail: sandra.santos.ped@gmail.com (S. Santos).
1138-011X/$ - see front matter 2011 Fundaci Catalana Sndrome de Down. Published by Elsevier Espaa, S.L. All rights reserved.

Achondroplasia and Downs syndrome case report of a rare association

27

ms adelante por cariotipo. Analizamos su evolucin, en la que se observa la salud fsica,

los problemas cognitivos y el comportamiento adaptativo a lo largo de sus 8 aos de
vida.
Hasta donde nosotros sabemos, este es el primer caso de la combinacin de ambos trastornos en el que la acondroplasia es hereditaria y no una mutacin de novo. Abordamos
los problemas derivados de la carga adicional de presentar dos trastornos y cmo pueden
mejorarse con el fin de ayudar a otras personas a tratar estos casos.
2011 Fundaci Catalana Sndrome de Down. Publicado por Elsevier Espaa, S.L. Todos
los derechos reservados.

Introduction
The association between achondroplasia and Downs
syndrome was reported for the first time in 19701, and since
then only four other were reported2-5, but in all achondroplasia
occurred as a de novo mutation. Achondroplasia is the
most common form of human dwarfism and more than 85%
occur as a de novo dominant mutation6,7. Downs syndrome
is the most common chromosomal alteration in humans8.
These alterations have distinctive phenotypic traits that
characterize them and their concurrence permits to observe
the consequences of overlapping features regarding physical
and developmental phenotype.

Patient presentation
A white female child, was born from a 32-year-old mother
with achondroplasia and a healthy 52-year-old father. She
was the product of full term pregnancy and elective
cesarean. Measurements at birth were: weight 2760g (5th to
10th percentile), length 44 cm (< 3rd percentile), head
circumference 33 cm (10th percentile). Apgar scores were 5
and 7 at 1 and 5 minutes, respectively. Since achondroplasia
is dominantly inherited, there was a high risk of having
dwarfism but still the mother had opted not to have prenatal
diagnosis. At birth she had evidence of achondroplasia but
also features suggestive of Downs syndrome, such as
hypotonia, up-slanting palpebral fissures, epicanthal folds,
Brushfields spots on the iris, flat occiput, short neck, short
hands with transverse palmar crease and she also had a
heart murmur.
Both disorders were confirmed by genetic studies,
including a kariotype that confirmed 47,XX,+21.
Echocardiogram showed a small atrial septal defect that
closed spontaneously.
Eyes examination showed no cataract, but strabismus.
During infancy, in addition to the frequent upper
respiratory tract problems, she had frequent lower
respiratory tract infections associated with wheezing and
hypoxemia resulting in several hospital admissions.
At the age of four she revealed hearing impairment due
to otitis media with effusion and she underwent tonsillectomy
with ventilation tubes insertion. After the intervention her
respiratory problems improved, reducing the number of
admissions. However recently she is showing again signs of
sleep apnea and may need surgery again.

As expected she has short stature, being below average

both for Downs syndrome and for achondroplasia growth
charts, and obesity. She has normal levels of growth hormone
and growth hormone treatment was not considered a good
option. Her thyroid function is normal. She shows no
atlantoaxial instability or other spinal malformation.
Her developmental acquisitions were slower than
expected for a child with Downs syndrome due to severe
hypotonia, and also because of the frequent admissions
that prevented a regular intervention to be held.
She was sitting at two years, walking at three, had her
first words by age two and said small phrases by three. In
the first three years of life she was at home with early
intervention program, but it was very hard to implement
for reasons involving her physical health.
After starting nursery, fortunately also coinciding with
the improvement in general health, it was possible to have
regular early intervention and speech and language therapy,
and she showed then not only progress but real gains in her
impairments. She is now eight (fig. 1) and she has a moderate
cognitive impairment but she is in a regular school, having
special education support, occupational therapy and speech
and language therapy. She has a very good adaptive and
social behavior, is well integrated and likes school and
seems to live a happy life.

Discussion
Downs syndrome and achondroplasia is an extremely rare
association and only a few cases have been reported1-5;
however our case is the first report of a child having both
disorders being born from a mother with achondroplasia.
Achondroplasia affects more than 250000 individual
worldwide6. It is an autosomal-dominant with nearly complete
penetrance7. Fifty percent of the offspring will be affected
and therefore prenatal diagnosis was offered to the mother
of our child. Her own perception and experience of the
disorder made her decline it, since she had a fulfilling and
well adapted life and felt happy disregarding of her condition.
She was expecting a child with achondroplasia and the
association of Downs syndrome was an unexpected event.
Downs syndrome affects nearly 1 in every 800 live births
and is the most common and best known chromosomal
disorder in humans8. The extra chromosome 21 affects
almost every organ and system and causes a wide spectrum
on consequences8.

28

S. Santos et al
Due to these concurrent problems, her development was
more impaired than we expect to see either in children with
achondroplasia or with Downs syndrome. Motor and language
skills were later to be accomplished and the frequent health
problems didnt allow her to sustain a good and regular
intervention program in her early years. This was only
possible later and we consider it had some consequences in
her abilities. However we have worked with the parents to
minimize her problems and to help her to feel adjusted, in a
regular school and to live a happy life.
It seems imperative that we try harder to stabilize these
patients and to enable them to receive proper intervention
as early as possible so that we can reduce the burden of
having two diseases.

Conflict of interests
The authors affirm that they have no conflict of interests.

References

Figure 1 Pacient with achondroplasia and Downs syndrome.

Several problems are present in both diseases such as

cervical spine problems that fortunately our patient didnt
show and others were present such as otitis media with
effusion, recurrent upper and lower respiratory problems,
snoring and sleep apnea, midface hypoplasia causing
orthodontic problems, speech delay and articulation problems,
hypotonia, motor delays and an increased risk of obesity.
The disproportion between limbs and trunk sizes also
made it more difficult for motor milestones to be achieved
and respiratory and hearing problems also contributed to
language impairment.

1. Sommer A, Eaton A. Achondroplasia and Downs Syndrome. J

Med Genet. 1970;7:63-6.
2. Carakushansky G. Achondroplasia Associated With Down
Syndrome. Am J Med Genet. 1998;77:168-9.
3. Snchez O, Guerra D, Nastasi J, Escalona J. Achondroplasia and
Down Syndrome in the same patient. Report of a case. Invest
Clin. 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 and
i(21q) Down Syndrome: Phenotype-Genotype Correlation. South
Med J. 2000;93:622-4.
5. Dabir T, McCrossan B, Sweeney L, Magee A, Sands A. Down
Syndrome, 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.

Rev Med Int Sindr Down. 2011;15(2):29-31

international
medical review
on downS syndrome

www.fcsd.org

www.elsevier.es/sd

Psychopedagogical advances

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

M. Golan Fornells
Centro de Desarrollo Infantil y Atencin Temprana, Fundaci Catalana Sndrome 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 de
Desarrollo Infantil y Atencin Temprana (Centre for Child Development and Early
Intervention). The child is considered a member of an essential relationship (family) and
development is considered a subjective, relational and maturative display.
2011 Fundaci Catalana Sndrome de Down. Published by Elsevier Espaa, S.L. All rights
reserved.

PALABRAS CLAVE

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

Atencin
psicoteraputica;
Atencin
interdisciplinaria;
Transferencia;
Alianza teraputica;
Coordinacin entre
servicios

Resumen
En este artculo se explica en qu consiste la atencin a la primera infancia desde el
Centro de Desarrollo Infantil y Atencin Temprana, considerando al nio como miembro
de una relacin esencial, como es la de la familia, y considerando el desarrollo como un
despliegue subjetivo, relacional y madurativo.
2010 Fundaci Catalana Sndrome de Down. Publicado por Elsevier Espaa, S.L. Todos
los derechos reservados.

The relationship between the mother, father and child is

the most important aspect for therapeutic work in toddler
and infant healthcare. This is even more evident during the
childs first three years, during which time, both parents (or
one of the parents) and the child are both in the same

*Corresponding author.
E-mail: cdiap@fcsd.org

therapeutic space in the centre. Sometimes the parents are

also interviewed at this stage. When the child is older
(3 years until 6 years old) he/she attends the sessions alone
and the parents are interviewed separately. If separation is
expected to be detrimental to the child-parent relationship,
then the child and parents can continue having sessions
together. One of the characteristics of toddler and infant
healthcare is that there is flexibility in treatment depending
on the childs needs and the familys attitude.

1138-011X/$ - see front matter 2011 Fundaci Catalana Sndrome de Down. Published by Elsevier Espaa, S.L. All rights reserved.

30
For non experienced parents, especially the mother, a
specific therapeutic positioning must be adopted to
adequately attend to her transference during this stage of
life.1 During the babys first year, the mother has particular
emotional characteristics: she considers whether she is able
to keep her newborn alive, communicate with him/her,
love him/her, and above all, whether she is a good mother
to her son or daughter. Since these emotional characteristics
are present while the mother is bringing up her baby, we
must adopt specific relationship characteristics, promoting
the therapeutic alliance and a positive transference which
is able to support her ability in being a good mother.
Support in the childs upbringing is one of the
psychotherapeutic approaches currently adopted in the
centre, given the demands from families that come for a
consultation. Motherhood and fatherhood support means
that parents can regain their emotional balance, allowing
them to identify with their child. This allows them to
recognise the childs needs, better empathise with his/her
emotions, interpret his/her behaviour being closer to the
child, making mentalisation and integration of subjective
experiences easier, and therefore promoting symbolisation
and development. With this approach, we often see incipient
symptoms quickly disappear, showing that these sessions
can prevent further problems.
Sometimes early childhood symptoms disappear after a
short period of time, i.e. after a few sessions, which led
Daniel Stern1 in 1995 to call these infant/parent relationship
psychotherapies serial brief therapy. However, he also
observed that parents returned to the centre after a given
period of time because another symptom would appear.
Parents would need help at different times because the
conflict appears in different ways in different evolutive
moments that the child lives, and the parents need different
opportunities at different times to relive the conflict and to
be able to solve it. Continuing with the therapy can often
involve prolonged periods of unsuccessful therapy sessions,
abandoning treatment or result in one-on-one sessions with
one of the two parents, normally the mother. Within the
therapeutic alliance, the psychotherapists door is left open
for the parents to return, enabling them to rethink how
they want him/her to help them and consider a new subject
matter at different moments. This often occurs in early
childhood care, and is not considered as failure, but a kind
of care. In this instance, the concept of brief is not making
reference to a previously established therapeutic strategy,
but a specific characteristic of the therapeutic process that
occurs in early childhood.
Understanding the childs overall healthcare, in which
development is considered the result of a maturative,
relational and always subjective display, the therapeutic
approach could be considered as psychotherapeutic. As
such, the child is cared for during all phases of his/her
development: intellectual, communicative, relational,
emotional, motor, all of which can not be separated from
one another. Constant interdisciplinary work is therefore
enforced.
The technique employed for the child-parent relationship
psychotherapy is complex, and is sometimes somewhat
confusing compared to other individual techniques. It is
therefore considered to be a different clinical situation

M. Golan Fornells
which can not be assessed with parameters used in other
psychotherapeutic contexts. From the same psychodynamic
point of view, different therapeutic agents are used for
child-parent relationship psychotherapy. There are many
therapeutic factors that are hard to differentiate, such as:
interpreting an unconscious relationship conveyed by the
child, signs and interpretations focusing on the here and
now of the observed interactions, being able to put a name
to the childs behaviour and helping the parents interpret
it, the parents identification with another adult which is
able to emotionally contain their child and observing itself,
as a containing and caring attitude. These tools define
different therapeutic proposals that are used in different
ways in the clinical practice depending on the level of
conflict presented by the child, and more importantly, the
family transference2,3. In this last instance, the most
important objective for child-parent relationship
psychotherapy must be to bring the parent(s) closer to their
child, to build or rebuild a relationship characterised by
deficiency or conflict.
Optimising care resources on which the public network
relies to attend to a constantly increasing population,
means that more efficient and precise therapeutic strategies
must be applied and researched, such as brevity and
focalisation. This has been proven by Sala et al,4 at the
Hospital Sant Pere Claver in their work on children over 4
years old undergoing individual psychotherapy.
In cases where the child experienced a significant organic
alteration at birth or which was diagnosed during the his/
her first few months, the psychotherapeutic approach
consists in assisting with the emotional dimension, providing
containment for the family and helping them prepare for
situations of distress and fantasy that are generated.
Informing the parents of the diagnosis is understood to be a
painful process which only starts in the hospital. Throughout
this process, we offer to help parents emotionally understand
what they are living, which has a positive effect on them
and their relationship with their children. Our work involves
organic problems, such as genetic syndromes or brain injury
that are detected at birth or in the first two or three months,
causing different levels of mental retardation or motor or
sensory delay. These families are normally referred to the
Centro de Desarrollo Infantil y Atencin Temprana (CDIAP)
by their doctor or hospital. They arrive grieving, feeling
disorientated and unsure of what the future holds for them,
and are not aware of what they can ask for or what they
need.
With this emotional outlook, the objective of regularly
offering a care space to the parents and their child, who
has suffered an organic alteration, is, on one hand, to be
aware of the childs development and his/her abilities and
needs, and on the other hand, to help build the first
relationship between parents and a child, which they did
not expect would have problems. These therapeutic sessions
help the relationship encounter. Sometimes professionals
from different medical disciplines attend these sessions.
The purpose is to help the parents interpret their childs
behaviour, to differentiate what is due to organic causes, to
understand and name the childs own characteristics,
abilities and difficulties, and their relationship. They are
spaces in which parents are invited to play with their child

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

in a game which represents dialogue between both members
of the relationship, and in which the parents are gradually
able to enjoy and identify with their child. These spaces
help parents build a relationship with their child to which
the subjective dimension is frequently denied to which
standardised characteristics are attributed. From a
psychodynamic point of view, the objective of achieving
subjective development is maintained, which is the growth
driver. This is in accordance with other contributions that
have been made to psychotherapeutic care for all infants,
including this subpopulation.5,6

Healthcare: coordination with other teams

involved in the care network
At present, CDIAPs coordination with the two large early
childhood healthcare areas, paediatrics and teaching, can
be considered to be consolidated after more than a decade
of regular meetings. However, network work continuously
increases 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 therapeutic
care for most cases. Coordination between different
departments that care for the same child offer the family
coherence, contributing to emotional containment,
promoting treatment compliance, and ensuring that families
with social problems can continue treatment. Coordination
with paediatricians and teachers has served as a channel to
sensitisation, prevention and detection. Regularly
maintaining stable coordination with centre professionals,
paediatricians and teachers, means that the same
development model, development warning signs and
upbringing criteria have gradually been shared, ensuring
that this care system is more coherent for the families. This
consistent coordination has created consolidated reference
and interconsultation channels.
The preventative value of toddler and infant healthcare
is unquestionable. The social and cultural context in which
family life develops determines the upbringing systems with

31
which families care for their children, and the framework
for the first fundamental relationships.7 In todays society,
there is not enough subjective time for parents and children
to understand each other and establish their own growth
rhythms. It hinders development of the feelings involved in
maternity, parenting and child development. As a result,
the current social outlook towards early childhood care is
for it to become a support for upbringing systems and also
become a space where mothers and fathers can regain their
role as essential figures in their childs growth.

Conflict of interests
The author affirms that she has no conflict of interests.

References
1. Stern D. La constelacin maternal. Barcelona: Ediciones Paids
Ibrica; 1997.
2. Palacio Espasa F, Knauer D. La tcnica de la psicoterapia
psicodinmica breve madre-padre-hijo. Revista de Psicopatologa
y Salud Mental del nio y del adolescente. 2003;1:9-18.
3. Tizn JL. La psicoterapia breve padres-hijo: una tcnica
diferenciada? Revista de Psicopatologa y Salud Mental del nio
y del adolescente. 2003;1:43-70.
4. Sala J, Chancho A, Ger E, Miquel C, Montserrat A, Noguera R, et
al. Psicoterpia focal de nens: una aplicaci del model
psicoanaltic a la Xarxa Pblica. Unitat de Psicoterpia
Psicoanaltica per a infants i Joves (UPPIJ). Sant Pere Claver.
Fundaci Sanitria. Barcelona: Ed. Grup del Llibre; 2009.
Available
at:
www.fhspereclaver.org/webCAT/pdf/Llibre_
Psicoterapia_focal_nens.pdf
5. Coriat E. El psicoanlisis en la clnica de bebs y nios pequeos.
Buenos Aires: La Campana; 1996.
6. Prez de Pl E, Carrizosa S (comp.). Sujeto, Inclusin y
Diferencia: Investigacin psicoanaltica y psicosocial sobre el
sndrome de Down y otros problemas del desarrollo. Mxico:
Universidad Autnoma Metropolitana; 2000.
7. Torras de Be E. Las interacciones tempranas actuales y sus
destinos. 2009. Available at: http://www.fetb.org/recerca-ipublicacions/las-interacciones-tempranas-actuales-y-susdestinos.htm

Rev Med Int Sindr Down. 2011;15(2):32

international
medical review
on downS syndrome

www.fcsd.org

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NEWS/announcements/meetings

Premio Reina Sofa 2010 awarded to FCSD

The Royal Trust for the Disabled, under the Presidency of
Her Majesty the Queen, awarded the Premio Reina Sofa
2010 for the Prevention of Disability, to the Fundaci
Catalana Sndrome de Down, for its working group of the
Downs Medical Centre, resulting in real social and
occupational integration.
The presentation of the award, Presided over by Her
Majesty the Queen, took place on the 3rd of March in
Zarzuela Palace. We reproduce the speech Montserrat
Trueta, Chair of the Fundaci Catalana Sndrome de Down,
in acknowledgement of receiving such a prestigious award.
Your Majesty, Honourable Ministers, General Secretary of
the Royal Trust, Vice-Chairman of the Pedro Barri de la
Maza Foundation, Invited Guests, Friends,
In 1986, from the Fundaci Catalana Sndrome de Down
we presented the first Preventive Health Program in Spain.
As a response to a lack of multidisciplinary health care for
people with Downs Syndrome, the Downs Medical Centre
was created the following year with the aim of making the
medical community aware and getting them involved. Today
it is a national and international reference centre. It is the
only one that combines medical care with research work
and teaching. For this, we have a team of medical
professionals, directed by Dr. Josep M. Corretger, which
covers 19 specialties, and with the most extensive data
base in the world. This work has led to numerous
contributions, highlighting, the Growth tables for Spanish

boys and girls with Downs syndrome, which are used a

national reference, and in books and scientific publications
aimed at doctors and families.
In the last few years, the life expectancy of people with
Downs syndrome has increased significantly. Care, from birth
to adulthood, improves the quality of life and can increase
their development and their inclusion into society. Another
work covered by the Foundation.
In this world full of difficulties, this Award which you
present us today, makes us proud and encourages the
Foundation at all levels to continue working with more
effort, if possible, for the wellbeing of people with Downs
syndrome and their families.
Thank you very much.
Madrid, March 3, 2011

Call for applications for the 12th Ramon Trias Fargas Award
for Research on Downs Syndrome
The Ramon Trias Fargas Award for Research on Downs Syndrome is awarded with 6000 every two years along with a bronze
reproduction of the Mare/Infant sculpture by Antoni Vancells. End date: October 8, 2011. Conditions of the award:
www.fcsd.org

Reial Acadmia de Medicina de Catalunya

Presentation, Manuel Cruz Hernndez
Included: Psychosocial Problems in Downs Syndrome (Josep M. Corretger Rauet)

1138-011X/$ - see front matter 2011 Fundaci Catalana Sndrome de Down. Published by Elsevier Espaa, S.L. All rights reserved.