Indexed in:
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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
Case report
Psychopedagogical advances
M. Golan Fornells
32 News/Announcements/Meetings
Premio Reina Sofa 2010 Giving Speech
DS
www.fcsd.org
www.elsevier.es/sd
SD
international
medical review on
dow'n syndrome
Editorial Committee
Scientific Committee
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
78,31
198,26
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
1138-011X/$ - see front matter 2011 Fundaci Catalana Sndrome de Down. Published by Elsevier Espaa, S.L. All rights reserved.
international
medical review
on downS syndrome
www.fcsd.org
www.elsevier.es/sd
ORIGINAL article
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
19
20
M. Hernndez Martnez et al
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.
Attention deficit disorder with or without hyperactivity or impulsivity in children with Downs syndrome
21
Seldom
Quite often
Often
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.
international
medical review
on downS syndrome
www.fcsd.org
www.elsevier.es/sd
CASE REPORT
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.
*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
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
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.
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
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
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.
international
medical review
on downS syndrome
www.fcsd.org
www.elsevier.es/sd
case report
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.
*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.
27
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.
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
international
medical review
on downS syndrome
www.fcsd.org
www.elsevier.es/sd
Psychopedagogical advances
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
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.
*Corresponding author.
E-mail: cdiap@fcsd.org
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
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
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