Managing the care of adults with Down’s syndrome
BMJ 2014; 349 doi: https://doi.org/10.1136/bmj.g5596 (Published 30 September 2014) Cite this as: BMJ 2014;349:g5596
All rapid responses
Dear Sirs
The article by Jensen and Bulova (BMJ 2014:349:g5596 doi:10.1136/bmj.g5596) Managing the care of adults with Down's syndrome is most welcome in bringing to the attention of health professionals the wide range of health problems that may be faced by adults with the syndrome.
It is disappointing however that in a UK based journal there is no reference to work done in the UK to highlight the health care needs of this population, and advise on management.
In the article the box referring to additional educational resources for patients includes links to organisations in the USA, Canada and Australia but does not include the various UK based organisations that offer a wide range of resources on health issues for people( adults and children) with Down's syndrome, namely
* The Down's syndrome association (England, Wales and N. Ireland) www.downs-syndrome.org.uk http://www.downs-syndrome.org.uk
* Down's syndrome Scotland www.dsscotland.org.uk http://www.dsscotland.org.uk
* The Down's Heart group www.dhg.org.uk http://www.dhg.org.uk
Whilst much of the information has traditionally been focused on health needs of children, the health care needs of adults become increasingly important as the life expectancy of people with Down's syndrome increases. To help address this the UK Down's Syndrome Association has recently developed a Health book for adults with Down's syndrome to help guide practitioners through the necessary health checks and signpost them to further information on Down's syndrome related health conditions www.downs-syndrome.org.uk/campaigns/annual-health-checks
http://www.rcgp.org.uk/clinical-and-research/clinical-resources/learning...
We are impressed that the Editorial board of the BMJ have chosen to highlight this important subject, however feel that where authors provide resource links in association with their submissions, this should include information on resources available in the UK when publishing in a UK based journal. We hope that publication of this letter will go some way toward redressing any consequences of this oversight.
Yours sincerely
Dr Liz Marder, Paediatrician
Medical advisor to DSA ( UK ) , and founder member DSMIG ( UK and Ireland)
Dr J.G. Coghlan MD, FRCP
Consultant Cardiologist & Pulmonary Hypertension Lead Royal Free Hospital
Trustee DSA
Medical Advisory Group Lead DSA
Competing interests: Dr. Marder is medical advisor to the DSA ( UK). DSMIG (UK and Ireland) receives funding from the DSA to support its role in providing information, and education on medical aspects of Down's syndrome. Dr. Coghlan is a DSA Trustee and Medical Advisor to DSA(UK) and DSMIG(UK & Ireland)
We congratulate Professor Jensen and Professor Bulova for their clinical review about patients with Down's syndrome, however, we believe that they should also have included in their review the ocular manifestations of the syndrome; firstly since they are very common and secondly they may seriously affect the quality of life of the patients. The improvement of healthcare, the increase of life expectancy in patients with Down's syndrome[1,2] has lead to significant increase in sequence and severity of ocular manifestations of the syndrome[3].
Down's syndrome is associated with ophthalmic disorders affecting all ocular structures [1]. The prevalence of diagnosis of ophthalmic disorders in Down’s syndrome patients is estimated at 77%[4].
Anatomic comparison of anterior segment ocular structures between patients with Down’s syndrome and general population has revealed significant abnormalities among patients with Down’s syndrome, including pupil size, corneal thickness, corneal volume and corneal curvature[5], indicating a predisposition for developing ophthalmic disorders.
In patients with Down’s syndrome, significant refractive errors (defined as hypermetropia over 3 diopters and myopia more than 1 diopter) and strabismus are the most common ophthalmic disorders with estimated prevalence of 43% and 45% respectively. The treating physician and parents should be aware of these manifestations in young patients with Down’s syndrome since if these are overlooked they may lead to permanent visual impairment of the patients due to the development of amblyopia. More rare ocular manifestations of the syndrome include epiphora (35%) and nystagmus (16%)[6]. Keratoconus is another disorder presenting in 5-8% of patients with Down’s syndrome; patients should be closely monitored as in some instances keratoconus may cause hydrop (acute swelling and scaring of the cornea) with subsequent reduction of vision which may eventually lead to the necessity for corneal transplant surgery.
In adult patients, cataract is reported as the ophthalmic disease with the highest prevalence (42%), followed by significant refractive errors (25%), strabismus (21%), conjunctivitis (13%) and nystagmus (12%)[4]. Although cataract surgery is nowadays a safe and effective procedure, it may be more challenging in patients with Down’s syndrome due to the concomitant ocular diseases such as nystagmous, keratokonus and in most cases surgery has to be done under general anesthesia.
In conclusion, ophthalmologic evaluation must be included in periodical medical examination performed in every patient diagnosed with Down’s syndrome, since a delay in the diagnosis and prompt treatment of ocular disorders can lead to visual impairment and adversely affect their quality of life.
1. A. T. Berk, A. O. Saatci, M. D. Ercal, M. Tunc, and M. Ergin, “Ocular findings in 55 patients with Down’s syndrome,” Ophthalmic Genetics, vol. 17, no. 1, pp. 15–19, 1996.
2. Q. Yang, S. A. Rasmussen, and J. M. Friedman, “Mortality associated with Down’s syndrome in the USA from 1983 to 1997: a population-based study,” The Lancet, vol. 359, no. 9311, pp. 1019–1025, 2002.
3. R. A. Catalano, “Down syndrome,” Survey of Ophthalmology, vol. 34, no. 5, pp. 385–398, 1990.
4. Krinsky-McHale SJ, Jenkins EC, Zigman WB, Silverman W. Ophthalmic disorders in adults with Down syndrome. Curr Gerontol Geriatr Res. 2012;2012:974253.
5. Aslan L, Aslankurt M, Aksoy A, Gümüşalan Y. Differences of the anterior segment parameters in children with down syndrome. Ophthalmic Genet. 2014 Jun;35(2):74-8.
6. Stephen E, Dickson J, Kindley AD, Scott CC, Charleton PM. Surveillance of vision and ocular disorders in children with Down syndrome. Dev Med Child Neurol. 2007 Jul;49(7):513-5.
Competing interests: No competing interests
Down’s syndrome and the paradigm of transition to adult care
In their recent article Jensen and Bulova1 reviewed most common conditions diagnosed in adults with Down syndrome (DS). As pointed out by the authors, multimorbidity is often observed in this population, presenting with a high rate of thyroid problems, osteoporosis and obesity. In table 1 we report the prevalence of these conditions in a sample of 153 adults with DS (mean age 37,9±12,3, range 18 to 75 years) admitted to Day Hospital of Geriatrics of the Università Cattolica del Sacro Cuore in Rome. All patients were evaluated by the use of a standardized protocol2. In addition to the above mentioned conditions, the picture is further complicated by a high prevalence of functional impairment, with about one third of the sample being impaired in one or more Activities of Daily Living, and social problems, with more than 10% requiring some form of institutionalization.
Considering the high prevalence of clinical, functional and social problems we agree with the authors that a comprehensive assessment is of paramount importance in this population. However, we have a different view on the approach to primary care. Given the high level of complexity and the need of a comprehensive assessment, primary care represents a very sensitive issue and should probably differ from the one used for the general adult population. The paradigm of transition from pediatric to adult care in DS and other congenital and intellectual disabilities is far than resolved. As pointed out in a recent article, complexity of adults with DS may result in increased workloads for health professionals in the primary care setting and there is still controversy on weather general practitioners are sufficiently knowledgeable, experienced or simply available to administer the proper levels of care for these persons3. Moreover, there is a lack of health policies and dedicated specialized centres to support the general practitioner in the care process. As a consequence, adults with DS, families and pediatricians are often impaired to initiate the transition to adult-based services4,5 and a considerable portion of adults with DS does not transition to adult heath care providers6.
We believe that given the similarities with frail complex elders, geriatric care could be the natural recipient of adults with DS. Geriatric care is focused on subtlety and complexity and it has proven to successfully address potentially coexistent medical, functional, psychological, and social needs of the patients by the use of the comprehensive assessment7. Primary focus of geriatric medicine is to maximize patient’s function and to balance quality of life issues with the risks of any possible tests or treatments. This kind of approach may also apply to adults with DS.
In conclusion we believe that, in order to promote the best interest of adults with DS and other congenital disabilities, the model of care already adopted for complex older adults could be implemented and tested. Such a model is based on a close interaction between general practitioners and a comprehensive assessment and management team specialized in multidimensional assessment of adults with DS, which coordinates the multidisciplinary care for complex and chronic conditions and simplifies the transition process from pediatric to adult care.
Angelo Carfì1, Roberto Bernabei1, Roberta Onesimo2, Giuseppe Zampino2, Graziano Onder1
1. Centro Medicina dell’Invecchiamento – Policlinico A. Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy
2. Dipartimento di Pediatria – Policlinico A. Gemelli, Università Cattolica Sacro Cuore, Roma, Italy
Bibliography
1. Jensen, K. M. & Bulova, P. D. Managing the care of adults with Down’s syndrome. Bmj 349, g5596–g5596 (2014).
2. Carfì, A. et al. Characteristics of Adults with Down Syndrome: prevalence of age-related conditions. Front. Med. - Submitted Article.
3. Glasson, E. J., Dye, D. E. & Bittles, a H. The triple challenges associated with age-related comorbidities in Down syndrome. J. Intellect. Disabil. Res. 58, 393–8 (2014).
4. Scal, P. Transition for youth with chronic conditions: primary care physicians’ approaches. Pediatrics 110, 1315–21 (2002).
5. Sawyer, S. M., Blair, S. & Bowes, G. Chronic illness in adolescents: transfer or transition to adult services? J. Paediatr. Child Health 33, 88–90 (1997).
6. Jensen, K. M. & Davis, M. M. Health care in adults with Down syndrome: a longitudinal cohort study. J. Intellect. Disabil. Res. 57, 947–58 (2013).
7. Ellis, G., Whitehead, M. A., Robinson, D., O’Neill, D. & Langhorne, P. Comprehensive geriatric assessment for older adults admitted to hospital: meta-analysis of randomised controlled trials. BMJ 343, d6553 (2011).
Competing interests: No competing interests