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.

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.