Center for Medical Genetics Center for Medical Genetics

Outpatient clinic for children with Down's syndrome

Introduction

Besides recognisable external features, people with Down’s syndrome (trisomy 21) have an increased risk to encounter particular health issues. These problems differ from person to person. Various organs might be involved, amongst which eyes, ears, heart, thyroid and gastroenteritic channel. Moreover, the intellectual and motorial development is delayed. Regular consultation and timely recognition of certain symptoms result in a better general development and a higher life quality for the patient.

The outpatient clinic for children with Down's syndrome

The objective of the outpatient clinic for children with Down's syndrome at the Ghent University Hospital is to improve the medical outline of patients with Down’s syndrome by offering a structured, preventative and specialized care plan. An adequate collaboration and knowledge expansion between the various medical disciplines and a close collaboration with the treating GP and/or paediatrician of the patient with Down’s syndrome is aimed at.

For the patients who are between 0 and 18 years old a paediatrician - geneticist is the coordinator, and for the patients over of 18 years age the coordinator is an internist - geneticist.

The coordinating doctors will contact other specialists if necessary, such as an endocrinologist (thyroid issues), a gastroenterologist (coeliac disease, food issues, constipation), a urologist and a haematologist. The operation is largely based on an international medical checklist for guidance of patients with Down’s syndrome. The purpose is to offer the required care (paediatrician, speech therapist, physiotherapist, home guidance, etc.) as much as possible in the immediate environment of the child and to transfer advice to health professionals in first and second line.

Table 1: Members of the Down Team at the Ghent University Hospital (for patients aged 0>18 years)

Genetic counselor Virginie Szymczak Paediatric orthopaedist Frank Plasschaert
Paediatrician - geneticist Bert Callewaert
Olivier Vanakker
Dentist Luc Marks
Isabelle Descamps
Peadiatric neurologist (COS) Frans Faes
Nele Bockaert
Anna Oostra
Paediatric endocrinologist Kathleen De Waele
Otolaryngologist arts Els De Leenheer
Helen Van Hoecke
Paediatric haematologist Barbara De Moerloose
Opthalmologist Patricia Delbeke
Sophie Walraedt
Irina Balikova
Speech therapist Kristiane Van Lierde
Paediatric cardiologist Katya De Groote
Joseph Panzer
Dietician Sabine Vereecken
Paediatric gastroenterologist Myriam Van Winckel Social worker Annelies Henderick

First contact

During the first consultation the paediatrician studies the patient’s medical history. A family tree is made and a clinical examination is done. The medical care pathway whereby the medical checklist functions as a guideline, is discussed. This medical care pathway can be adjusted to the patient.

Follow-up scheme and organization

The follow-up scheme of the outpatient clinic for children with Down's syndrome at the Ghent University Hospital is a guideline for a good and structured follow-up of patients with Down’s syndrome and helps to early recognize and treat possible problems. Adjustments to this scheme are possible in function of the necessity. The frequency of the consultations is slightly higher during the first years of life, later it is limited to an annual consultation whereby the consultations can be spread over 2 days. The follow-up can also be done by health professionals in the patient’s near environment. Besides, the patient and his relatives can always contact the outpatient clinic for children with Down's syndrome for supplementary advice. A proper collaboration and exchange of information is aimed at.

Down outpatient clinic consultations for children under 18 are coordinated by the paediatrician – geneticist. In most cases the consultations are spread over 2 days (Tuesday and Friday). The consultations with the otolaryngologist, the ophtalmologist, the orthopaedist, the dentist or the speech therapist, and the blood sampling are generally scheduled on Tuesdays. Consultations with the coordinating paediatrician and the paediatric neurologist of the Centre of Development Disorders (COS) are on Fridays. The below scheme is the proposed follow up scheme of the UZ Gent for patients aged 0 up to 18+. Mainly the important screening moments are emphasized. This scheme must be used in combination with the Down pass.
Attention: vaccinations are to be done by the own treating paediatrician or by a family health service.

Follow-up of patients aged 0 up to 8 years old - Medical checklist Ghent University Hospital

0 year 5 weeks 6 months 10 months 1 year 1,5 year 2 year 2,5 year 3 year 4 year 5 year 6 year 7 year 8 year
ENT 1
Ophtalmologist
Dentist 2 3 4
Orthopaedist 5 6
Paeditrician
COS 7
Cardiologist 8,9
Blood sampling
Thyroid 10 11
Haemato 12
Coeliac dis. 13
Kidney function
Liver function
Glycemia

(1) ALGO test by a family health service. If deviant, further ENT check-up is required. Continued check-up of the hearing function of the ENT findings, (2) from the age of 2 six-monthly control with (peripheral) dentist, (3) control at the Centre for Special Dentistry at the Ghent University Hospital and annual check-up according to necessity, (4) orthopantomogramme, (5) control for luxating patella, joint laxity, follow-up according to necessity, (6) control for atlanto-axial instability, further follow-up according to necessity, (7) first COS consultation, further follow-up according to necessity, (8) echocardiography within first 4 weeks after birth, cardiologic follow-up according to necessity, (9) at the age of 18 – 20 another echocardiography is recommended to check the mitral valve prolapse, (10) TSH testing through heel prick test, (11)TSH testing, T4, T3 on 6m, afterwards + anti-TPO, (12) haematological control to identify transient myelo proliferation. If present: consultation with hemato-oncologist required + identification of GATA1 mutation, (13 ) control anti-tissue TTG and once-only full IgA (with IgA deficiency better determine anti-gliadin IgG), blue: control is recommended.

Follow-up of patients aged 9 to +18 years old - Medical checklist Ghent University Hospital

9 year 10 year 11 year 12 year 13 year 14 year 15 year 16 year 17 year 18 year 18 year +
ENT 1 x per year
Ophtalmologist 35+ year: every 5 years
Dentist 2 x per year
Orthopaedist
Paeditrician 1 x per year clinical examination
COS
Cardiologist
Blood sampling
Thyroid 1 x per year
Haemato 1 x per year
Coeliac dis.
Kidney function 1 x per year
Liver function 1 x per year
Glycemia 1 x per year

The consultations for patients older than 18 years old are coordinated by internist – geneticist Dr. B. Poppe. The observation of the adult patient with Down’s syndrome equals in many ways the one set for children with Down’s syndrome. The older the patient, the more special attention is given to the early diagnosis of dementia..

The coordinating nurse guarantees a good organization within the outpatient clinic for patients with Down's syndrome. She/he is charged with the planning of the consultations with the various disciplines.

Today, consultations are charged per discipline. They are in accordance with the official rates of the Belgian Institute of Health and Disability Insurance. In the future, a federal convention might result in a better payment regulation for the patient. This is now being discussed with the Belgian Institute of Health and Disability Insurance.

Discussion and report of results

The results of the various examinations are discussed per discipline with the patient and his/her parents. In the end, they are bundled in a common medical report by the coordinated doctor. This medical report is then sent to the peripheral treating doctors. Parents can also get a copy of this report, if they require so.

In order to guarantee the best possible follow-up of the patients, our team meets every 3 to 4 months. At the same time interuniversity meetings on particular health issues are organized on a regular basis. Items on the agenda are the patients, the latest scientific situation on Down’s syndrome and the future operation of the outpatient clinic for patients with Down's syndrome.

Address and contact possibilities

Coordinating nurse: Virginie Szymczak
Centrum Medische Genetica
Entrance 81 - Universitair Ziekenhuis Gent
De Pintelaan 185
9000 Gent
Telefoon: +32 9 332 6339
Fax: +32 9 332 4970

e-mail: Virginie.Szymczak@ugent.be



Last updated: 02 March 2017 - 17:46
Copyright 2018 Center for Medical Genetics, Gent.