Mar. 08': The Usefulness of standard neuropsychological testing for adults with Down syndrome and dementia

M. Boada1,2, M. Alegret1, M. Buendia1, I. Hernández1, G. Viñas1,
A. Espinosa1, S. Lara1, M. Guitart1, Ll.Tárraga1
1 Fundació ACE. Institut Català de Neurociències Aplicades
2 Hospital General Universitari Vall d´Hebron

Correspondence:
Dr. Mercè Boada
Fundació ACE. Institut Català de Neurociències Aplicades
Marquès de Sentmenat, 35-37
08014 Barcelona
España

Abstract
Background: Subjects with Down syndrome (DS) have an increased risk of Alzheimer’s disease (AD). As intellectual ability is lower in DS subjects than among the general population, it is difficult to determine whether cognition has deteriorated with age to the point of fulfilling AD diagnostic criteria. The Mini-Mental State Examination (MMSE) and the Severe Impairment Battery (SIB) are standard cognitive tests widely used to assess dementia in the general population. There are few studies using the MMSE and the SIB on subjects with DS where dementia is suspected. The aim of the present study was to analyse the appropriateness of the SIB and the MMSE in the cognitive assessment of aging subjects with DS.
Methods: The SIB and the MMSE were administered to 45 subjects with DS (16 with Alzheimer’s disease and 29 without dementia), and the DMR questionnaire was given to their caregivers.
Results: DS subjects with dementia had higher impairment levels than DS subjects without dementia in their social and total DMR scores, but no significant differences were found between the two groups in the SIB and MMSE scores or in cognitive DMR performance. Overall, SIB scores correlated significantly with MMSE results, total DMR, cognitive DMR, and social DMR. MMSE performance correlated significantly with total and cognitive DMR scores as well as SIB score.
Conclusion: The SIB and the MMSE are useful assessment tools in monitoring cognitive function among subjects with DS and cognitive loss or dementia.
Keywords: Dementia. Cognition. Alzheimer’s disea-se. Down syndrome.

Març 08': Anaemia and celiac disease in a patient with Down syndrome.

Pere Sala Castellví1, Mª Esperança Llorens Jové2, Purificació Ducet Vilardell3, Clara Vila Cerén1, Mª Josep Elizari Saco1, Xavier Demestre Guasch1, Frederic Raspall Torrent1

1 Servei de Pediatria i Neonatologia. Hospital de Barcelona-SCIAS. Grup Assistència. Barcelona.
2 Consultor de Gastroenterologia Pediàtrica.
3 Pediatra. Les Franqueses. Barcelona.

Correspondence:
Dr. Pere Sala Castellví
Servei de Pediatria i Neonatologia. Hospital de Barcelona-SCIAS.
Avinguda Diagonal, 660
08034 BarcelonaE-mail: neonatos@sciashdb.com

Abstract
Down syndrome (DS) is associated with an increased risk of celiac disease (CD) than that found in general population. An adolescent girl with DS and CD presenting with severe anaemia is reported.
A 13 year-old girl was admitted to hospital for anaemia and a 4 week-history of asthenia, anorexia, and disturbed bowel habit. Her past medical history was remarkable for hypermenorrhea and occasional vomiting. Heart rate was 106x’ and blood pressure 112/48 mmHg. On physical exam she was pale and a systolic murmur was heard. Blood tests depicted a severe hypochromic normocytic anaemia with haemoglobin values of 4,7 g/dL Gastrointestinal bleeding was ruled out on the basis of several image studies and a bone marrow study was also normal. Iron supplement with ferrous sulphate was prescribed. A month later she was readmitted to hospital for abdominal pain, vomiting and diarrhoea. Serum endomysium antibodies and tissue transglutaminase antibodies were found to be positive and an intestinal biopsy confirmed the diagnosis of CD. She was started on a gluten-free diet and the iron supplement was maintained. She subsequently followed a favourable clinical course with cessation of gastrointestinal symptoms and correction of the anaemia.
Several authors have suggested that people with DS should be routinely screened for CD even if they are asymptomatic. Moreover, the existence of CD should be specially considered in people with DS who present with gastrointestinal symptoms or anaemia of unclear aetiologies.
Keywords: Anaemia. Celiac disease. Down syndrome.

Mar. 08': Disseminating Good Practices for Inclusive Schooling in Catalonia

Emili Grande
Director Técnico, Federación ECOM.

Correspondence:
Federación ECOM
Gran Via de les Corts Catalanes, 562, pral. 2ª08011 Barcelona

Abstract
Plataforma Ciutadana per a una Escola Inclusiva a Catalunya (Citizen Alliance for Inclusive Schooling in Catalonia) is a group of organizations and individuals working together to promote high-quality inclusive schooling for all in government schools and subsidized schools in Catalonia.
Children with disabilities must have guaranteed access to the same schooling as their age-peers. Integration with other children who do not have disabilities is an educational experience for all those involved, as well as an opportunity to learn to live together: while children with disabilities learn to be more independent and improve their peer-relating skills; the rest of the classroom community, including teachers and other teaching staff, learn to live alongside others who are different.
Whereas the rate of inclusive schooling in Catalonia is close to 65% for mainstream schools providing preschool (0-5) and primary (6-11) school education, there is a sharp drop at the level of compulsory secondary (12-15) schooling.
To boost the inclusion process, the Alliance has launched an initiative to identify, recognize and disseminate «Good Inclusive Schooling Practices in Catalonia». The present article outlines identified good practices and discusses early results.
Keywords: Inclusive schooling. Inclusiveness. Innovation. Mainstreaming and Sectoralization.

Nov. 07 : Independent Living and Social Inclusion

Josep Ruf
Independent Living Support Service Coordinatort «Me’n vaig a casa»
de la Fundació Catalana Síndrome de Down. Professor d’Educació Social a la Universitat de Barcelona.

Correspondence:
Sr. Josep Ruf
Fundació Catalana Síndrome de Down
Comte Borrell, 201-203, entresol
08029 Barcelona

Article received: 31.10.07

Abstract
After a few years of opportunities for independent living actually materializing for individuals with intellectual disabilities, the present situation may be analyzed to gauge the social access and community participation enjoyed by this group, as well as. Moreover, new prospects can now arise to serve as a focus for the individuals themselves, their families, their communities, professionals, organizations, and government bodies.

Keywords: Independent living. Quality of life. Social inclusion.

Nov. 07 : IX International Symposium on Down Syndrome.

IX International Symposium on Down Syndrome.
Into Old Age: Challenges and Hopes
Barcelona, 9 November 2007

Jul. 07' : Predictive Factors for the Development of Vertebral Deformities in Down’s Syndrome

Lluís Rosselló1, Francesc Pallisó1, Esther Siscart2, Tere Boronat2, Emma Puerto3, Rafel Llovet3.

1Servicio de Reumatología y Aparato Locomotor del Hospital
de Santa Maria de Lleida.
2Servicio de Medicina y Rehabilitación del Centro ACUDAM
de Mollerussa.
3Servicio de Medicina y Rehabilitación del Centro ASPROS de Sudanell.

Correspondence:
Dr Lluís Rosselló-Aubach
Servei de Reumatologia. Hospital de Santa Maria de Lleida.
Rovira Roure,44
25198. Lleida (Spain).
E-mail: lrosello@gss.scs.es

Article received: 3 Jul 07


Abstract
Background: There are many studies of spine pathology in people with Down Syndrome (DS), the majority of these focusing on atlantoaxial anomalies of the cervical column. There is, in contrast, much less information about other malformations such as scoliosis, kyphosis and lordosis, perhaps due to the fact that they are much less frequent pathologies with few physical and life-threatening repercussions. The aim of our study was to determine the prevalence of these spine-related malformations in a group of patients with DS and to look for factors that might predict the course of their development.
Patients and methods: We studied a total of 60 people with DS, 26 women (43.33) and 34 men (56.67%) with an average age of 39.8 ± 10.19 years, weight average of 65.4 ± 13.55 kg, and height average of 1.51 ± 0.4 metres. In all cases, we studied the different alterations of the spine following a well-established three-dimensional study protocol. We studied anthropometric data for these patients and also evaluated the other alterations which, due to their frequency, were thought to be potentially related to other spine-induced malformations: thyroidal pathologies, heart- and sight-related problems and alterations affecting the locomotive apparatus such as atlantoaxial instability, hyperlaxitude of the ligaments and deformation of the lower limbs.
Results: Forty-nine (81.67 %) of the patients had some spine-related malformation, 21 (35%) had malformations related with scoliosis, 19 (31.67%) with kyphosis, 30 (50%) with lumbar hyperlordosis, and 15 (25%) suffered from 2 or more of these malformations. Sex and height did not seem to be predictive factors, but age seemed related to lumbar lordosis, with this condition being more prevalent in younger patients (p < 0.01), while dorsal kyphosis was more prevalent in older patients (p < 0.001). On crossing spine-related malformations with other disorders, we noted that patients who suffered some form of visual pathology had a higher risk of suffering from scoliosis (p < 0.0009) and also other types of skeletal malformation (p < 0.02).
Conclusions: The number of patients with spine-related malformations was very high in the DS study group. With time, the curvatures change: in young people bone curvature predominantly affects the lumbar hyperlordosis, while in older patients it affects the dorsal kyphosis. Patients with visual disorders and other malformations of the skeleton have a greater risk of suffering scoliosis. We think that in this population group it is very important to prevent or to reduce the column deviations.
Key words: Down’s syndrome. Risk factors. Vertebral deformities.

Jul. 07 : Follow up of the children seen at the “Ramón Sardá” maternal hospital of Buenos Aires, Argentina

I. Schapira, N. Aspres, A. Ferrari, M. Rittler, G. Chernovesky, V. Feld, A.B. Álvarez Gardiol, R. Bedacarratz, A. Antoniutti, G. Gravnosky,
M. Piperno.
Grupo At.i.e.n.do: Atención Interdisciplinaria en Niños con Síndrome
de Down. Consultorio Externo de Pediatría. Hospital Materno Infantil
«Ramón Sardá» de Buenos Aires, Argentina.

Correspondence:
Dra. Schapira: itschapira@ciudad.com.ar
Dra. Ferrari: ama_ferrari@yahoo.com.ar

Article received: 01.06.07

Abstract
We show the results of the follow-up program for children with Down Syndrome, seeing by the ATIENDO group in the Maternal Hospital Ramón Sardá the Buenos Aires Argentina. We describe the program, the study population, associated illness, the results, and intervention approaches to promote integration of these children in the family and society.

Keywords: Down Syndrome. Interdisciplinary follow up.

Jul. 07' : On Reaching Adulthood

Beatriz Garvía Peñuelas
Psicóloga del Centre Mèdic Down. Coordinadora del Servicio de Atención Terapéutica (SAT) de la Fundació Catalana Síndrome de Down.

Correspondencia:
Sra. Beatriz Garvía
Fundació Catalana Síndrome de Down
c/ Comte Borrell, 201-203, entresòl
08029 Barcelona

Artículo recibido: 05.06.07

Abstract
To let the intellectually handicapped people to get into the society and become part of it, they need to have a life project, a concept of themselves, and a clear identity. It will make possible to accept the difficulties, to discover their potentials and reinforce their autoestime. Building the identity does not ends-up in the adolescence, it last for the whole life.
Adulthood has more external needs, more if the person is working in ordinary jobs, and it gets less internal support. In adulthood, the persons with intellectual handicaps still need knowing themselves, to be satisfied of what they are doing, to be able to chose, and feel socially valuated.

Keywords: Adulthood. Handicap. Identity building. Mental representation. Social integration.

Mar. 07' : Dr. Alari, a contributor to this publication ...

Dr. Alari, a contributor to this publication and collaborator of Centre Mèdic Down from its inception, is retiring. Dr. Alari has been kind enough to send in her thoughts about her time working for the Center. Exceptionally, they will be published here, as they are a convincing expression of the philosophy underlying the work of all those who help provide care for people with Down syndrome. Our publication of this article is a token of our gratitude.
The editorial board/The editors

Mar. 07' : Down Syndrome: An Assessment of Infant Psychomotor Development and Its Impact on Social and Familial Integration*

Iris Teresa Schapira, Alejandra María Ferrari, Norma Aspres,
Ana Belén Guardiol, Ana Inés Antoniutti, Roxana Bedacarratz
Hospital Materno Infantil «Ramón Sardá» Buenos Aires, Argentina.

Correspondence:
Dra. Schapira: itschapira@ciudad.com.ar
Dra. Ferrari: ama_ferrari@yahoo.com.ar

Article received: 13 November 06


Abstract:
There are currently no specific tests to observe and assess development in infants with Down syndrome (DS), so follow-up programs and performance assessments are required. Moreover, such programs encourage early and appropriate intervention to ensure psychomotor and cognitive development to the child's full potential, paving the way for integration at school, at work, in society and within the family.
This paper describes a longitudinal prospective study analysing and describing psychomotor and cognitive assessment in patients with DS in the first two years of life. The included subjects were infants with DS born in the Hospital Materno Infantil Ramón Sardá (HMIRS) as well as referrals from other institutions aged 1 day to 2 years. The subjects were evaluated over a 12-month period, with the Escala de Evaluación del Desarrollo Psicomotor (EEDP - Psychomotor Development Assessment Scale) by Rodríguez et al. and the Escala Argentina de Inteligencia Sensorio-Motriz (EAIS-Argentine Scale of Sensory-Motor Intelligence) by Oiberman et al. administered monthly.
This provided a mean age of acquisition of early motor milestones and a measurement of deviation from the population-wide mean in every area (language, motor skills, coordination, and social skills) with ensuing detection of the areas most compromised.
A survey assessed the emotional, economic and social impact these children had on their families, and whether this impact might influence their development.
Keywords: Assessment. Cognitive development. Down syndrome. Psychomotor development.

* Main topic of research: Implementation and evaluation of primary careprograms.

Mar. 07 : Continuing education for workers with intellectual disabilities

Màrius Peralta i Correas*
Co-ordinator of «Col·labora» Job Integration Service at Fundació Catalana Síndrome de Down

Correspondence
Màrius Peralta
Fundació Catalana Síndrome de Down
Comte Borrell 201, entl.
08029 Barcelona
E-mail: colabora@fcsd.org

Article received: 20-Feb-07

Abstract
Almost 25 years since the LISMI Act first came into force, Spain still fails to regulate the organizations that facilitate integration into working life for people with disabilities. This has a direct impact on access to continuing education for these workers, whose training needs are similar to their coworkers’ while additionally requiring specialized knowledge and support in order to acquire relationship strategies and everyday life problem-solving skills to help them achieve inclusion.

Keywords: Continuing education. Intellectual disability. Social skills.

Nov. 06' : Motor development in children with Down syndrome and associated osteoarticular pathology.

Inmaculada Riquelme Agulló1, Beatriz Manzanal González2
1Escuela de Enfermería y Fisioterapia. Universitat de les Illes Balears.
2Centro de Desarrollo Infantil y Atención Precoz del Maresme.

Correspondence:
Inmaculada Riquelme Agulló.
Escuela de Enfermería y Fisioterapia.
Universitat de les Illes Balears.
Edificio Beatriz de Pinós.
Ctra. Valldemossa km 7,5.
07122 Palma de Mallorca (Spain).

Article received: 12.05.06
Summary
In the population of children with Down Syndrome (DS), some motor patterns used more frequently can be found. The characteristics of the child with DS, such as hypotonia, joint instability, shortness of the limbs related to the length of the trunk and his neuropsychological alterations, have made him repeat motor patterns which are functional but not the most adequate. Despite the fact that these patterns are not limited exclusively to the children with DS and may be found in the normal development of other children, its repetition can sometimes produce alterations in the muscle-skeletal system. Precocious Physiotherapy helps the prevention and treatment of the possible muscle-skeletal pathology and stimulates a proper psychomotor development of the child with DS.

Key words: Development. Down Syndrome. Hypotonia. Joint instability. Psychomotor disorders.

Nov. 06' : Moyamoya syndrome associated with Down syndrome: Clinical and radiological features

A. Nascimento1, R. Navarro2, J. Colomer3, F. Gómez4, T. Sola2
1 Neuropediatra. Centre Mèdic Down, Fundación Catalana Síndrome de Down, Barcelona.
2 Servicio de Neurocirugía, Hospital Sant Joan de Déu, Barcelona.
3 Servicio de Neurología, Hospital Sant Joan de Déu, Barcelona.
4 Servicio de pediatria, Hospital Virgen dels Lliris, Alcoy (Alicante).

Correspondence:
Dr. Andrés Nascimento.
Fundació Catalana Síndrome de Down.
Comte Borrell, 201, entresòl.
08029 Barcelona. Spain.
E-mail: anascimento@hsjdbcn.org

Artícle received: 05.10.06

Abstract
Moyamoya syndrome has been rarely associated with Down syndrome. In pediatric patients, the usual presentation is the ischemic stroke. We report a 8 year old girl with Down syndrome and Moyamoya syndrome, who presented with focal seizure and acute left onset hemiparesis. The aim of this study is to describe the clinical and radiological features of the patient, the managment and the possible causes that could explain these two syndrome’s associations have been reviewed.
Keywords: Cerebrovascular disorders. Down syndrome. Ischemic stroke. Moyamoya syndrome.

Nov. 06 : Self-determination and adults with intellectual disability

S. Rojas Pernia
Profesora Departamento Educación. Universidad de Cantabria. Spain

Correspondence:
E-mail: rojass@unican.es

Article received: 28.09.06

Abstract
The concept of self-determination started to be used in our country a few years ago as a basis (reference) in the services and programs directed at the mentally handicapped. The concept of self- determination is about the urgent need and the right of the mentally handicapped to have more control over their lives. However, although this concept has been rapidly and easily assimilated as part of professional jargon (a good example is all the papers that have been published on the theme), and the unanimity that seems to exist around the necessity to ensure its development, in many cases it ends up converting itself into a collection of abilities that need to be developed in the person with the mental handicap.
In this way, as occurs with other concepts that come for Anglo-Saxon culture, for instance «empowerment» or «self advocacy» it is forgotten that their strength resides in their very nature. That is to say, the recognition of the possibility and the need of the mentally handicapped, to take control over what happens to them.

Jul. 06' : Sixteen years of screening for Down syndrome in England and Wales: 1989-2004

JK Morris
Director National Down Syndrome Cytogenetic Register Centre for
Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, Barts and The London School of Medicine and Dentistry

Correspondence:
JK Morris
Charterhouse Square, London EC1M 6BQ, UK
E-mail: j.k.morris@qmul.ac.uk
Web del NDSCR: www.wolfson.qmul.ac.uk/ndscr

Article receibod: 30.06.06


Abstract
The National Down Syndrome Cytogenetic Register has been collecting data on all cytogenetic or DNA reports of trisomy 21 and its cytogenetic variants occurring in England and Wales since 1989. One aim of the Down syndrome register is to monitor the effectiveness and availability of the relevant prenatal diagnostic genetic services. In this article we use data from the Down syndrome register to examine the changes in screening for Down syndrome that occurred between 1989 and 2004. The number of Down syndrome has increased a 55%. The number of prenatally diagnosed cases has increased by over 300% with the number of live births only falling slightly.
Keywords: Down Syndrome. Epidemiology. Prenatal diagnosis. Preventive medicine. Screening.

Jul. 06' : Factors influencing motor development in children with Down syndrome

Inmaculada Riquelme Agulló1, Beatriz Manzanal González2
1 Escola d’Infermeria i Fisioteràpia. Universitat de les Illes Balears.
2 Centre de Desenvolupament Infantil i Atenció Precoç del Maresme.

Correspondence to:
Inmaculada Riquelme Agulló.
Escola d'Infermeria i Fisioteràpia.
Universitat de les Illes Balears.
Edifici Beatriz de Pinós.
Ctra. Valldemossa km 7,5
07122 Palma de Mallorca (Spain)

Article received: 12-May-06


Abstract
Psychomotor development in children with Down syndrome is affected in both the motor and the mental component. Motor development in a child with Down syndrome typically involves a delay in the attainment of the gross motor milestones achieved during the first year in non-impaired children, such as standing, sitting, crawling, reaching, rolling and walking. Furthermore, alterations may appear in fine motor development, visual motor control, speed, muscle strength, and static and dynamic balance.
Motor development is hindered to a large extent by hypotonia and ligament laxity and by constitutional problems such as shortness of the upper and lower limbs in relation to the trunk. Another reason for delayed acquisition of motor items can be DS-related medical problems, such as heart, stomach, intestine and respiratory problems, and ear canal infections.
Frequently, people with Down syndrome show alterations in their locomotor system due to an association of more or less pronounced muscle hypotonia and joint laxity. Joint instability increases because joint soft tissues are less functional. As a result, joints which undergo a more continuous load (hips, knees, feet) or are subject to great mobility (atlantoaxial joint) tend to be more affected.

Keywords: Development. Down syndrome. Hypotonia. Joint instability. Psychomotor disorders.

Jul. 06' :

Healthy ageing in people with Down syndrome and dementia: the need to foster education and support programs for individuals, families and organizations

Susanna Esteba-Castillo, Nuria Ribas Vidal, Meritxell Baró i Dilmé, Ramón Novell Alsina
Equip Multidisciplinari. Servei Especialitzat en Salut Mental / Trastorn de conducta i Discapacitat Intel·lectual (SESM-DI). Parc Hospitalari Martí i Julià. Institut Assistència Sanitària (IAS).

Correspondence to:
Dr. Ramon Novell i Alsina.
Responsable de l’Àrea de DI. Parc Hospitalari Martí i Julià.
Institut Assistència Sanitària (IAS). Girona, Spain
E-mail: sesmdi@ias.scs.es

Article received: 08-May-06


Abstract
Most individuals with Down syndrome (DS) reach an advanced age which gives rise to specific senior-citizen needs. These must be considered and addressed, through anticipation and prevention. Difficulties are already emerging in services responsible for this population, as well as for the individuals concerned and their relatives. The inadequacy and unsuitability of policy planning and lack of adequate services are made apparent whenever a person with DS begins to develop cognitive deterioration or dementia.
The World Health Organization (WHO) has drawn up, in conjunction with the International Association for the Scientific Study of Intellectual Disabilities (IASSID) and Inclusion International, a report on the social and health care needs of aging persons with intellectual disabilities, including those with DS. This working document highlights as a priority the need for each country in the European Union to implement "Projects for Healthy Aging" that are naturally conducive to social inclusion while improving support and training for both formal and informal caregivers. The present article provides a rough outline for potential future programs targeting individuals with DS and cognitive deterioration or dementia.

Keywords: Care programs. Dementia. Down syndrome. Main caregiver overload.

Nov. 05' : Thyroid Disorders in Down Syndrome

Juan José Chillarón Jordán1, Alberto Goday Arno11, 2 María José Carrera Santaliestra1, Juana Antonia Flores Le Roux1, Jaume Puig de Dou1, Juan Francisco Cano Pérez1
1 Endocrinology and Nutrition Service. Hospital Universitari del Mar de Barcelona. Facultat de Medicina. Universitat Autònoma de Barcelona.
2 Endocrinologist at Centre Mèdic Down

Correspondence to:
Dr. Alberto Goday Arno.
Servei d’Endocrinologia i Nutrició.
Hospital del Mar.
Passeig Marítim 25-29.
08003 Barcelona.
E-mail: agoday@imas.imim.es

Article received: 31-Oct-05

Abstract
Thyroid dysfunctions are important among the conditions associated with Down Syndrome (DS), due to their high prevalence and to their potential impact on quality of life. That is why routine TSH, T4 and T3 determination must be carried out at regular intervals on all patients with DS.
Hypothyroidism is common in DS patients, and levothyroxine replacement therapy must be started if TSH levels exceed 10 mcU/mL, T3 or T4 levels are low, or antithyroid antibody titres are high. A need for cardiac surgery is also an indication. It is advisable to start with a low-dose treatment (12.5 µg/day) and then adjust it until TSH levels have been normalized.
Slight and usually transitory minor subclinical hypothyroidism is a common occurrence in the first three years of life, and the need for treatment with levothyroxine is to a certain extent disputed. In this respect, a recent clinical trial showed an improvement in terms of psychomotor development in a group of patients treated with levothyroxine from the neonatal period. Follow-up in the trial was carried out for 24 months, and the improvement in psychomotor development was estimated at 0.7 months, while allowing for the possibility of magnified differences in subsequent checks.
Regarding hyperthyroidism in DS, although it arises in a higher percentage than among the general population, it has a much lower incidence than hypothyroidism. The most frequent etiology is toxic diffuse goitre, or Graves-Basedow disease, which is initially treated with synthetic antithyroids (metimazol or carbimazol) and beta-adrenergic blocking agents (propranolol or atenolol). Where hyperthyroidism persists, a definitive treatment must be considered, preferably with radioiodine, given the advantages it offers over surgery (with its attendant hospital stay, anaesthesia, and so on.).

Keywords: Diabetes mellitus. Hyperthyroidism. Hypothyroidism. Obesity. Low height.
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Nov. 05' : Coxofemoral Instability and Patellofemoral Instability in Down Syndrome

Torner F1-2, Muset A2, Cepero S2, Huguet R2.
1 Orthopedic Surgery and Traumatology specialist at Fundació Catalana Síndrome de Down.
2 Servei de Traumatologia i Cirurgia Ortopèdica Hospital Universitari Sant Joan de Déu de Barcelona.

Correspondence to:
Dr. F. Torner Rubies.
Fundació Catalana Síndrome de Down.
Comte Borrell, 201-203, entl.
08029 Barcelona.

Article received: 30-Sep-05


Abstract
Trisomy of the 21st chromosome, or Down syndrome (DS), is the most common chromosomal abnormality. It is associated with certain musculoskeletal conditions that are usually present to some degree in most individuals with Down syndrome. Musculoskeletal conditions linked to generalized ligament laxity are among the main features of this syndrome. Laxity may sometimes be concomitant with significant joint pathology, such as hip instability or patellofemoral instability. The authors present two clinical cases, one with non-traumatic hip dislocation treated conservatively with a spica cast and prolonged immobilization, and another with patellofemoral instability treated surgically. After 18 and 15 months' follow-up, neither patient has experienced a recurrence.


Keywords: Orthopedic disorders. Ligament laxity. Hip dislocation. Patellar dislocation. Down syndrome.
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Nov. 05' : Individual Psychotherapy for Persons with Down Syndrome

Cristina Gallart i Valls
Psychologist at Centre Mèdic Down (CMD) and Centre de Desenvolupament Infantil i Atenció Primerenca (CDIAP), a part of Fundació Catalana Síndrome de Down (FCSD).

Correspondence to:
Sra. Cristina Gallart
Fundació Catalana Síndrome de Down.
c/ Comte Borrell, 201-203, entresòl.
08029 Barcelona.

Article received: 29-Sep-05

Abstract
This paper reflects upon the individual psychotherapeutic care we undertake with persons with Down Syndrome (DS) at the Centre Mèdic Down (CMD). Although the population groups catered for in this Department range from children to adults, this paper concerns the adult patients (aged from 16 years upwards). In it, we look at persons with DS, the therapeutic relationship between patient and psychologist, and the instruments used in psychotherapy to help people think through and connect with their emotions and conflicts.
We also include clinical materials, experiences with a few patients (7 cases) and a closing reflection about the importance of working with the patient's family throughout the therapeutic process.

Keywords: Help with thinking through. Connecting with emotions. Patients with Down Syndrome. Therapeutic process. Psychotherapy.
----------------------------------------------------------------------

Jul. 05' : Parental defence mechanisms: clinical situations

Dolors Torres i Jordi
Psychologist Centre de Desenvolupament Infantil i Atenció Primerenca (CDIAP) of Fundació Catalana Síndrome de Down (FCSD).

Correspondence to:
Sra. Dolors Torres
Fundació Catalana Síndrome de Down
c/ Comte Borrell, 201-203, entresuelo
08029 Barcelona, Spain

Article received: 30-May-05


Abstract
The Centre de Desenvolupament Infantil i Atenció Primerenca (CDIAP: Child Development and Early Attention Centre) of Fundació Catalana Síndrome de Down (FCSD) caters for children with developmental disorders from birth to six years. This paper considers the anxiety felt by parents upon consulting this service, together with the defence mechanisms, resistances and other parental reactions that might arise during treatment.
This article sets out to foster and develop an understanding of these situations so that the therapist can help parents to form a mental picture of their grief and symbolise it, thereby helping them to carry out their parental function.

Keywords: Anxiety. Early attention. Centre de Desenvolupament Infantil i Atenció Primerenca. Defense mechanisms. Resistance.
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Jul. 05' : Oxidative Stress Markers in Down Syndrome*

Ángela Casado, Mª Encarnación López-Fernández, Rocío Ruíz
Departamento de Fisiopatología y Genética Molecular Humana
Centro de Investigaciones Biológicas (CSIC)
Ramiro de Maeztu 9, MADRID 28040, Spain

Correspondence:
Dr. Ángela Casado
Departamento de Fisiopatología y Genética Molecular Humana
Centro de Investigaciones Biológicas (CSIC).
Ramiro de Maeztu, 9
28040 Madrid, Spain
E-mail: acasado@cib.csic.es

Article received: 21/04/05



Abstract
Background: Oxidative stress results from an imbalance between formation and neutralization of pro-oxidants. Oxidation of biomolecules can damage them, disturbing normal functions and may contribute to a variety of disease states and aging.
Objective: We analysed activities of Cu/Zn superoxide dismutase (Cu/ZnSOD), catalase (CAT), glutathione peroxidase (GPx) and glutathione reductase (GR), which form the main enzyme protection mechanism against harmful effects of reactive oxygen species, and the levels of malondialdehyde (MDA), an end product of lipid peroxidation, in order to develop a better knowledge of a new aspect in this syndrome’s pathology.
Material and Methods: 100 individuals with Down Syndrome (DS), aged from newborns to 29 years (34 males and 66 females) were analysed: 90 individuals with regular trisomy 21, 6 with mosaic trisomy 21 and 4 with trisomy 21 by Robertsonian translocation. A group of individuals without pathology was also included (40 males, 60 females) with similar ages to the DS individuals. In all cases we determined: 1) antioxidant enzymes activity: SOD, CAT, GPx and GR, 2) levels of MDA.
Results: We observed: a) an increase in the oxidative stress in DS individuals caused by an excess in Cu/Zn SOD, which they try to compensate mainly by increasing the activity
of GPx and CAT; b) high levels of lipid peroxidation; c) no significant differences between male and female in DS individuals; d) lower oxidative stress in individuals with mosaic. Conclusions: Trisomic cells are more sensitive to oxidative stress. This sensitivity could be caused by an imbalance in the hydrogen peroxide metabolism.

Keywords: Oxidative stress. Lipid peroxidation. Antioxidant enzymes. Malondialdehyde. Down syndrome.

* This paper was presented at the III International Conference on Chromosome 21 and Medical Research on Down Syndrome.
It has received the Ramon Trias Fargas Award for Research on Down Syndrome (9th edition) granted by Fundació Catalana Síndrome de Down.
Project funded by Fundación Inocente, Inocente.