NOV. 09': 10th World Down Syndrome Congress

10th World Down Syndrome Congress
Lifelong living and learning
Dublin, Ireland (19th – 22nd august 2009)

The 10th World Down Syndrome Conference was held last August in Dublin, Ireland.
Attendance was high, with over 2,000 delegates from around the globe, including an
impressively large and active contingent from Australia.
Our own country had scarce representation. Dr. Serés, the medical coordinator of Centre
Mèdic Down (CMD), was there on behalf of Fundació Catalana Síndrome de Down.
Like preceding editions, the 10th Congress addressed a variety of social, medical, educational,
and other issues. Both the social events and the scientific sessions were very well organized.
Since it is impossible to summarize all the topics that were covered, we have chosen to publish
some of the abstracts that we felt to be of the greatest interest from a medical perspective.

NOV. 09': Groups for siblings of children with Down syndrome

Cristina Gallart i Valls
Psychologist, Down Medical Centre (CMD) and Therapeutic Care Service
(SAT) at the Fundació Catalana Síndrome de Down
Barcelona (Spain)
Correspondence: psicologia@fcsd.org

Abstract

This article is an exploration of accounts given to us by children who have siblings with Down syndrome. At regular get-togethers organised by the FCSD these children are afforded an opportunit to discuss and share their experience of having a brother or sister with a disability.
The article examines the aims and dynamic of these groups and exemplifies the feelings expressed by the children. We shall endeavour to understand and attach meaning to their experiences and emotions by referring to quotes taken from various
sessions.

Keywords. Siblings with Down syndrome. Groups for children. Meeting space. Fraternal relationship. Feelings expressed.

Mar. 09: Hyperthyroidism in Down síndrome

Cristina Claret-Torrents 1, Albert Goday-Arno 1,2,3, Mariaina Cerdà-Esteve,
Juana Flores-Le Roux1, Juan José Chillarón-Jordan1, Juan Francisco
Cano-Pérez 1,3

Correspondence: agoday@imas.imim.es

Abstract

Thyroid conditions, particularly hypothyroidism, are common in people with Down syndrome (DS). Hyperthyroidism is also found at a higher-than-average rate in patients
with DS, although only isolated case reports and short series had been published up until now. We recently published the longest series so far examining the relationship between hyperthyroidism and DS. A systematic review of the 1,856 patients seen at Fundació Catalana
Síndrome de Down (FCSD) from 1991 to 2006 was undertaken, and 12 cases of hyperthyroidism were diagnosed. The etiological cause was found to be Graves disease
in all cases. After initial treatment with antithyroid drugs, all patients required definitive treatment with radioactive iodine I-131. Annual biochemical screening for early
diagnosis is less effective than it is for hypothyroidism. Hyperthyroidism may influence growth and development in children with DS; treatment can reverse its impact.

Keywords Hyperthyroidism. Down syndrome. Graves disease. Thyroid gland. Growth.

Jul. 08': Immunizable diseases and Down syndrome

People with Down syndrome (DS) are especially infection-prone, particularly during childhood.
The main reason is an association of DS with multifactorial primary immune deficiency.
Many of these conditions are immunizable, but studies of vaccination and DS are few and do not
include recent formulations. While awaiting remediation of this gap, the present state of knowledge is that available vaccines are safe and effective for
people with DS, though the possibility that response may be lower than average means that strict compliance with immunization schedules is required to ensure effectiveness.

Keywords: Down syndrome. Active immunization.
Vaccination. Passive immunization.

Jul. 08': Arthritis in a patient with Down syndrome

We present the case of a 35-year-old patient with long-standing polyarthritis and Down syndrome. Both of these conditions share a clinical and radiological sign in common, namely,
atlantoaxial subluxation, though probably due to different causes.
We discuss this rare combination of both conditions as well as challenges for treatment.

Keywords: Down syndrome. Rheumatoid arthritis.

Jul. 08': Psychomotor development in children with Down

Children with Down syndrome have unique defining traits with a specific bearing on their psychomotor development. Brain characteristics, musculoskeletal abnormalities and associated medical conditions are the most significant factors that affect their psychomotor development, both in terms of milestone timing and in the quality of movements. The main aim of Early Intervention is to optimise and support the child’s development, fostering their capabilities and taking on board their individuality. Physiotherapy is offered primarily as a preventive service. Children are given the chance to experience appropriate movement, by setting optimum patterns and preventing misaligned ones. Parents and significant others in the child’s environment are also given advice.

Keywords: Down syndrome. Psychomotor development.
Early intervention. Physiotherapy.

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.