Health and medical issues

There are many websites which offer information relating to medical issues associated with Down syndrome. The following is a list of sites which are recommended as good starting points for families. These sites offer good current factual information on a range of health and medical topics.

Down Syndrome health issues
Health site authored by US paediatrician Dr Len Leshin, father of a child with Down syndrome. The site is aimed at parents and offers a comprehensive range of material on common health and wellbeing issues. The author also submits regular summaries of current research articles. Recommended as first point of reference for families on medical matters.

Down’s Syndrome Association (UK)
Publishes a range of comprehensive information booklets on different health issues.

Learning about Intellectual Disabilities and Health
This site, developed by St. George's Hospital Medical School in London and the UK Down Syndrome Association, is intended for health professionals but much of the information about specific conditions would also be helpful for parents.

Riverbend Down Syndrome Support Group
The ‘Medical series’ has information, including research abstracts, on a wide range of medical issues.

National Down Syndrome Society (US)
Site includes information and further reading lists on a number of common medical issues. The site also includes comprehensive health care guidelines for all age groups and growth charts for children with Down syndrome (also available at www.growthcharts.com).

The Adult and Teen Down Syndrome Center
Publications area of the Adult and Teen Down Syndrome Center (Illinois, US). Particularly useful for health issues relating to adults with Down syndrome (the Center’s directors are the authors of Mental wellness in adults with Down syndrome, referenced below).

Recommended reading

*Publications marked with this symbol are available for DSV members to borrow from the DSV Resource Library.

*Selikowitz, Mark (2008) Down syndrome.The facts Oxford (3^rd ed, first publ 1990)
Gives a good general overview of the medical issues which are most commonly associated with Down syndrome.

*Van Dyke, DC et al(eds) (1995) Medical and surgical care for children with Down syndrome. A guide for parents Topics in Down Syndrome series, Woodbine House
Detailed reference guide which includes many of the commonly occurring medical issues.

*McGuire, Dennis and Brian Chicoine (2006) Mental wellness in adults with Down syndrome. A guide to emotional and behavioural strengths and challenges (Woodbine House)
Comprehensive handbook which addresses health in adults with Down syndrome. Focus is on mental wellness but this book also provides information and assessment guidelines related to physical health considerations. Recommended reading for all families of adults with Down syndrome.

Health care guidelines for people with Down syndrome

The three sources below list internationally recognised health care screening and health supervision guidelines for people with Down syndrome of all ages.

Cohen, William I (1999) Health Care Guidelines for Individuals with Down syndrome: 1999 revision Down Syndrome Quarterly vol 4/3 pp1-16
[original document  published in Down Syndrome Quarterly at http://www.dsrf.org]

Cohen, William I Down Syndrome Health Care guidelines (based on 1999 Down Syndrome Health Care Guidelines)

Genetics, Committee on (2001) Health Supervision for Children with Down syndrome Pediatrics  107/2 pp442-449

Hard copies of all these documents can be obtained from the office of Down Syndrome Victoria by calling 1300 658 873 or email info@dsav.asn.au

Growth charts

Growth charts (height, weight and head circumference) specific to infants and children with Down syndrome can be downloaded at:
www.growthcharts.com

The charts on this site have been reproduced internationally and are widely used.
Hard copies can be obtained from the office of Down Syndrome Victoria by calling 1300 658 873 or email info@dsav.asn.au

Personal health records

CDDS Personal Health Record
The Canadian Down Syndrome Society produces a comprehensive medical history and health record intended for older teenagers and adults. This can be used to record existing personal health information and as an ongoing record of medical appointments, medications and other important medical history.

Personal health record templates can also be found at:

Centre for Developmental Disability Health Victoria
Personal health records for people with a developmental disability

Down Syndrome Association of NSW
Personal health record for adults with Down syndrome

Down’s Syndrome Association, UK
Health. Looking after yourself

This publication, written by and for adults with Down syndrome, covers a whole range of health matters in plain language and with reproducible revision activities. It includes a reproducible section for adults to record information which may be useful when visiting a health professional

Information relating to specific conditions and health issues

The references listed here are by no means exhaustive, but will provide a good starting point for families wanting information relating to specific conditions and medical issues associated with Down syndrome.

*Publications marked with this symbol are available for DSV members to borrow from the DSV Resource Library.

Congenital heart defects

*Selikowitz, Mark (2008) ‘The heart’ in Down syndrome. The facts Oxford (3^rd ed, first publ 1990), ch 7 pp 85-92

*Cousineau, Anthony J and Ronald M Lauer (1995) ‘Heart disease and children with Down syndrome’ in Van Dyke, DC et al (eds) Medical and surgical care for children with Down syndrome. A guide for parents Topics in Down Syndrome series, Woodbine House, ch 3 pp 34-63

Downs Heart Group (UK)
This UK group is dedicated to providing support and information for families whose child with Down syndrome has a heart condition. It includes information relating the different conditions and other associated issues. Also gives details of the Down's Heart Group Online Community, a contact point for families who have a member with Down syndrome and associated congenital heart disease.

Heartkids Victoria
Information, including a range of fact sheets (see Resources section), and support avenues for families (see also the national organisation: http://www.heartkids.org.au/index.php).

Royal Children’s Hospital Melbourne, Cardiology Department
The RCH site includes a large collection of fact sheets for families.

Gastrointestinal issues including reflux and constipation

*Buie, T M & A Flores Sandoval (1995) ‘Down syndrome and the gastrointestinal tract’ in Van Dyke, DC et al (eds) Medical and surgical care for children with Down syndrome. A guide for parents Topics in Down Syndrome series, Woodbine House, ch 9 pp175-188

Bishop, Victor J (2006) Down Syndrome & Hirschsprung Disease

Marder, Liz (2008) Gastrointestinal problems in children with Down’s syndrome, UK Down’s Syndrome Association

Leshin, Len (1998, 2003) Constipation and Down syndrome

Leshin, Len (1997, 2004) Gastroesophageal reflux and Down syndrome

Coeliac disease

Leshin, Len (2004) Celiac disease and Down syndrome

Coeliac Society of Victoria What is coeliac disease?

Thyroid conditions

*Selikowitz, Mark (2008) ‘The thyroid gland’ in Down syndrome The facts. Oxford (3^rd ed, first publ 1990), pp 80-82
Good brief introduction to the thyroid gland and thyroid conditions.

*Foley, Thomas P (1995) ‘Thyroid conditions and other endocrine concerns in children with Down syndrome’ in Van Dyke, DC et al (eds) Medical and surgical care for children with Down syndrome. A guide for parents Topics in Down Syndrome series, Woodbine House, pp 86-97
More detailed information for families relating to thyroid.

Leshin, Len (1998) The thyroid and Down syndrome

Dennis, Jennifer (2008) Thyroid disorder among people with Down's syndrome - Notes for parents and carers UK Down’s Syndrome Association
Useful information in particular relating to tests and testing for thyroidism. UK management standards referred to are similar to those in Australia.

Blood disorders and leukaemia

*De Alarcon, Pedro (1995) ‘Children with Down syndrome and leukemia’ in Van Dyke, DC et al (eds) Medical and surgical care for children with Down syndrome. A guide for parents Topics in Down Syndrome series, Woodbine House, ch 11 pp207-228

Leshin, Len (2000) Diseases of the blood in Down syndrome

Down syndrome and leukaemia discussion group
Yahoo group designed to discuss issues relateing to individuals with Down syndrome who have leukemia. The group is a restricted list for individuals who know someone with Down syndrome and leukemia.

Ears and hearing

Dennis, Jennifer (1995, 2001) Hearing problems in people with Down syndrome Down’s Syndrome Association (UK)

Information for families: Down’s syndrome and childhood deafness Down’s Syndrome Association (UK), DSMIG & National Deaf Children’s Society (UK)

Eyes and vision

*Selikowitz, Mark (2008) ‘Eyes and vision’ in Down syndrome. The facts Oxford (3^rd ed, first publ 1990), pp 73-76

*Sargent, Robert A (1995) ‘Common eye conditions of children with Down syndrome’ in Van Dyke, DC et al (eds) Medical and surgical care for children with Down syndrome. A guide for parents Topics in Down Syndrome series, Woodbine House, ch 6 pp109-130

Cardiff University (UK) Down’s Syndrome Vision Research Unit (especially the Information for parents and Information for teachers)

Woodhouse, Margaret L (2004) ‘Vision in children with Down’s syndrome’ DSA Journal issue 106 pp14-17

Crofts, B & M Woodhouse (2005) Eye problems in children with Down syndrome. Notes for parents and carers Down’s Syndrome Association Medical Series

Brady, Robyn (1999-2000)’Visual disorders in children with Down syndrome’ DSAQ Digest, Down Syndrome Association of Queensland

Part 1 discusses looks at common ophthalmologic disorders associated with Down syndrome;

Part 2 looks at milestones in children’s vision, critical periods in vision development and what to look out for

Part 3 focuses on some of the practical issues surrounding children wearing glasses.

Atlanto-axial instability

Dennis, Jennifer (2001) Atlanto-axial instability among people with Down’s syndrome. Notes for parents & carers UK Down’s Syndrome Association

Dental issues

*Nowak, Arthur J (1995) ‘Dental concerns of children with Down syndrome’ in Van Dyke, DC et al (eds) Medical and surgical care for children with Down syndrome. A guide for parents Topics in Down Syndrome series, Woodbine House, ch 12 pp 229-251

Pilcher, Elizabeth S (1998) ‘Dental care for the patient with Down syndrome’ Down Syndrome Research and Practice, Vol. 5, No. 3, pp 111-116 Down Syndrome Educational Trust

Sleep apnoea

Leshin, Len (1997, 2003) Obstructive sleep apnea and Down syndrome

Cho, Paula Sleep apnea

Stores, Rebecca (2008) Managing sleep problems in children with Down’s syndrome. Notes for parents and carers UK Down’s Syndrome Association

Heerensperger, Donna (2004) What is obstructive sleep apnea syndrome (OSAS)? Canadian Down Syndrome Society

Alzheimer’s disease

Down Syndrome Australia Network, Azheimer’s Australia & CDDH Victoria (2009) Down syndrome and Alzheimer’s disease

Hard copy available free of charge from Down Syndrome Victoria