BASIC MEDICAL SURVEILLANCE ESSENTIALS FOR PEOPLE WITH DOWN'S SYNDROME.

DSMIG (UK) 2001 www.dsmig.org.uk 15.01.02

CARDIAC DISEASE.

(Version 5)

Between 40 and 50% of babies with Down’s syndrome have congenital heart defects. Of these 30-40% have complete atrioventricular septal defects.(1.2) Most AVSD can be successfully treated if the diagnosis is made and the baby referred for full corrective surgery before irreversible pulmonary vascular disease is established.(3)

There must be a high level of clinical suspicion of congenital heart disease for all newborns with the syndrome

It is essential to establish the cardiac status of every child by age 6 weeks (4.5.6.7.8.9).

Clinical examination alone is insufficient to detect all of even the most serious abnormalities (2.8.11)

It is very unlikely that a serious abnormality requiring early intervention (atrio ventricular septal defect) will be missed if one of the following courses of action is taken (2.10.12)

However, even if early investigations are reported as 'normal', if a child develops signs or symptoms of cardiac disease appropriate investigations must take place as structural problems may not have been evident at an earlier age.

It is not always essential to refer newborn babies with the syndrome to a cardiologist. However, all clinical examinations should be by a doctor experienced in the care of newborns; CXR and ECG findings should be reviewed by an experienced paediatrician; echocardiograms should be carried out and reviewed by staff with appropriate paediatric experience in the field. Those with suspected problems should be referred for immediate cardiological review so that intervention, if necessary, can take place before pulmonary vascular disease develops.

It is recognised that minor heart defects (atrial septal defect and small ventricular septal defects) may be missed in those children who do not have echocardiograms but these should declare themselves clinically, as for any child, in the normal course of child health surveillance.

Parents and carers of all children with heart lesions should be given verbal and written information about infective carditis preventive measures.(sample document available)

It must always be remembered that despite a normal echo at birth children with Down's syndrome, like all other children, can develop heart disease at a later age secondary to airway problems (13).

There is an increased incidence of mitral valve prolapse and of aortic regurgitation in adults. This has implications for infective carditis prevention particularly because of the high incidence of periodontal disease among this population. We therefore recommend an echo screen for all people with Down's syndrome early in adult life (9.14).

If a potential risk situation for infective endocarditis arises for an adult with Down's syndrome who has not had an adult echo, preventive prophylactic measures should be started.

References (Heart disease):

  1. Tubman.,TRJ.,Shields,MD.,Craig,BQ.,Mulholland,HC.,Nevin,NC., (1991) Congenital heart disease in Down's syndrome; Two year prospective early screening study. BMJ; 302 : 1425- 1427.
  2. Frid,C.,Drott,P.,Lundell,B.,Rasmussen,F.,Anneren,G. (1999). Mortality in Down’s syndrome in relation to congenital malformations. J.Int.Disab.Res. 43.3.234-241
  3. Amark,K.,Sunnegarth,J (1999) The effect of changing attitudes to Down’s syndrome in the management of complete atrioventricular septal defects. Arch.Dis.Ch.81.2. 151-154
  4. Chi,TP.,Krovetz,LJ., (1975) The pulmonary vascular bed in Down syndrome. Journal of Pediatrics; 86 ;4: 533-538.
  5. Frontera-Izquierdo,P.,Cabezuelo-Huerta,G., (1990) Natural and modified history of atrioventricular canal defect - a 17 year study. Arch Dis. Child., 65 : 964-966.
  6. Souden,P.,Stijns,M.,Tremouroux-Wattiez,M.,Vliers,A. (1975) Precocity of pulmonary vascular obstruction in Down’s syndrome. Eur.J.of Cardiology 2.4. 473-476
  7. Yamaki,S.,Yasui,H.,Kado,H.,Yonenaga,L et al.(1993) Pulmonary vascular disease and operative indications in complete atrioventricular canal defect. J.Thoracic Cardiovascular Surgery. 106. 398-405
  8. Taylor,JFN.,(1990) Commentary : Natural and modified history of atrioventricular canal defect - a 17 year study. Arch Dis. Child., 65: 966-967.
  9. Committee Report, 1995. Guidelines for optimal medical care of persons with Down syndrome. Acta Paediatrica, 84 : 823-827.
  10. Cullen,S.,Ward,OC.,Duff,D.,Denham,B. (1990.) Congenital heart disease in Down's syndrome : Is there a need for a formal screening programme? Ir.J.Med.SC.; 159 : 168.
  11. Wren,C.,Richmond,S.,Donaldson,L. (1999) Presentation of congenital heart disease in infancy: implications for routine examination. Arch.Dis.Child.Fetal Neonatal Ed. 80 F49-
  12. Chong,ESF.,Dennis,J.,Archer,N.(1998) The effectiveness of screening for congenital F53heart disease in a 14 year birth cohort of children with Down’s syndrome. Proceedings RCPCH annual spring meeting. Arch Dis Ch. 2.63
  13. Laughlin,GM.,Wynne,J.,Victoria,BE., (1981) Sleep apnea as a possible cause of pulmonary hypertension in Down syndrome. Journal of Pediatrics : 98; 3; 435-437.
  14. Goldhaber,SZ.,Brown,WD.,St. John Sutton,MG., (1987). High frequency of mitral valve prolapse and aortic regurgitation among asymptomatic adults with Down syndrome. JAMA : 258; 13; 1793-1795

CERVICAL SPINE INSTABILITY

People with Down's syndrome have a small risk for acute or chronic neurological problems caused by cervical spine instability 1.2

Currently there is no screening procedure which can predict those at risk. In particular cervical spine X rays in children have no predictive validity for subsequent acute dislocation/ subluxation at the atlantoaxial joint 3.4.5.6.7

Children with Down's syndrome should not be barred from sporting activities because there is no evidence that participation in sports increases the risk of cervical spine injury any more than for the general population 6.8

Although the risk of injury is small, if any child or adult needs an anaesthetic the anaesthetist and recovery room staff must always be reminded of the diagnosis so that appropriate care can be taken to avoid cervical injury whilst manipulating the head and neck in the unconscious subject 9

Although the risk of injury is small, if a person with Down's syndrome is involved in a road traffic accident personnel involved in their care should be alerted to the possibility of cervical spine instability and of the need for particular care relative to this 1.5

If a person with Down's syndrome develops pain behind the ear or elsewhere in the neck, abnormal head posture, torticollis, deterioration of gait, manipulative skills, or bowel and /or bladder control they should be referred immediately to an appropriate specialist (usually a neurologist or a spinal orthopaedic surgeon).

References - Cervical spine instability:

  1. Davidson,RG.,(1988). Atlantoaxial Instability in Individuals With Down Syndrome: A Fresh Look at the Evidence. Pediatrics: 81: 857-865
  2. Saad,KFG., (1995) A lethal case of atlantoaxial dislocation in a 56-year-old woman with Down's syndrome. J.Intellectual. Disability Research. 39: 447-449
  3. Selby,KA.,Newton,RW.,Gupta,S.,Hunt,L. (1991) Clinical predictors and radiological reliability in atlantoaxial subluxation in Down's syndrome. Archives of Disease in Childhood. 66: 876-878.
  4. Cremers,MJG.,Ramos,L.,Bol,E.,van.Gijn,J. (1993) Radiological assessment of the atlantoaxial distance in Down's syndrome. Archives of Disease in Childhood. 69. 347- 350.
  5. Morton,RE.,Ali Khan,M.,Murray-Leslie,C.,Elliott,S.(1995) Atlantoaxial instability in Down's syndrome: a five year follow up study plus Chapman,S.,Commentary. Archives of Disease in Childhood, 72: 115-119
  6. Department of Health.(1995). Cervical spine instability in people with Down syndrome. CMO Update 7.p4.
  7. American Academy of Paediatrics Committee on Genetics.(1994) Health Supervision for children with Down syndrome. Pediatrics 93: 855-859
  8. Cremers,MJG.,Bol,E.,de Roos,F.,van Gijn,J. (1993) Risk of sports activities in children with Down's syndrome and atlantoaxial instability. Lancet. 342: August 28th. 511-514.
  9. Casey,AT.,O’Brien,M.,Kumar,V.,Hayward,RD.,Crockard,HA. (1995) Don't twist my child’s head off : iatrogenic cervical dislocation. BMJ. 311: 4 November. p1212-1213.

GROWTH

Short stature is a recognised characteristic of most people with Down’s syndrome. Average height at most ages is around the 2nd centile for the general population. For the majority the cause of growth retardation is not known 1. Some conditions leading to poor growth - congenital heart disease 2.3; sleep related upper airway obstruction 4; coeliac disease 5.6; nutritional inadequacy due to feeding problems; and thyroid hormone deficiency 7.8 occur more frequently among those with the syndrome. Regular surveillance of growth, general health, nutritional and thyroid status should aid in early identification of pathological causes of growth retardation. UK/Republic of Ireland growth charts for healthy children with Down’s syndrome from birth to 18 years are available 9.10. These reference values are essential for assessing linear growth. However as many older children and adults with the syndrome are overweight 11.12 the reference values for weight should not be used as a standard that children should aim to achieve. BMI data is included on the charts to aid the assessment of overweight.

Recommendations:

  1. We suggest that it is good practice to record and chart height and weight frequently in the first two years using Down’s specific charts 9. Thereafter measurements should be made at least annually throughout childhood and at regular intervals in adult life. Regular measurements of this sort are likely to be sensitive early indicators of the many medical problems which are over represented in the syndrome
  2. Preliminary data suggest that many babies with the syndrome do not regain birthweight until around 1 month 13. This is not reflected in the charts because of their cross sectional nature. This early failure to thrive is usually due to feeding difficulties many of which resolve after the first few weeks. From 1 month weight should increase parallel to the centiles. Significant failure to do so should be investigated.
  3. Of those with measurements below the 2nd centile some will have major pathology but some may be failing to thrive for other reasons – eg because of feeding difficulties.14 Such children should have their dietary intake evaluated and may need to be referred to a paediatrician or paediatric endocrinologist for assessment.
  4. The Down’s specific charts clearly reflect the tendency to overweight among the UK study sample particularly in later childhood. Hence the reference data should not be used as a standard that children should aim to achieve. Standard BMI charts have been included on the growth charts. We suggest that all those over age 5 with weight above the 75th centile should be charted on the BMI charts. Those above the 98th BMI centile should be considered for further assessment and guidance. Those above the 91st should be carefully monitored.
  5. Although there is a high prevalence of overweight/obesity 11.12 people with Down’s syndrome are not necessarily overweight in relation to their height. As with the general population weight is influenced by environmental 12.15 as well as biological factors 16.
  6. Appropriate anticipatory guidance regarding diet and physical activity should be given for all those with the syndrome.
  7. Thyroid function should always be checked in those with accelerated weight gain.
  8. In childhood growth spurts and plateaux occur as in all children but among the Down’s population these tend to be more prolonged. They are not reflected in the smoothed curves of a reference chart.
  9. The Down’s specific chart suggests an absence of pubertal growth spurt. However those with the syndrome do have an adolescent growth spurt. It is usually less vigorous than in the general population and may occur at an earlier age 17. If early onset of puberty occurs it may have a limiting effect on final height.
  10. As with all children head circumference should be measured at birth and 6 weeks and charted on Down’s syndrome charts. If there is any cause for concern subsequent measurements should be made.
  11. The use of growth hormone in Down’s syndrome is still being evaluated. There is no evidence that it should be prescribed except in the unusual situation of concurrent primary growth hormone deficiency 18.19.20.21
  12. The influence of parental height on target height appears to be variable 22.
  1. McCoy EE.(1992) Growth Patterns in Down’s Syndrome. In Down Syndrome: Advances in Medical Care, Ed. Lott IT, McCoy EE. Wiley-Liss, Inc. NewYork ISBN 0471561843.
  2. Cronk CE (1978) Growth of Children with Down’s Syndrome: Birth to age 3 years. Pediatrics.61.No4.564-568
  3. Greenwood RD, Nadas AS (1976); The clinical course of cardiac disease in Down’s syndrome. Pediatrics 58: 893:897.
  4. Stebbens VA, Samuels MP, Southall DP, Dennis J, Croft CB; (1991). Sleep related upper airway obstruction in a cohort with Down’s syndrome. Arch.Dis.Child. 66.1333-1338
  5. George,EK.,Mearin,ML.,Bouquet,J.,von Blomberg,BME., et al (1996) High frequency of coeliac disease in Down syndrome J.Pediatr. 128. 555-557
  6. Jansson,J.,Johansson,C. (1995) Down syndrome and celiac disease. J.Ped. Gastroenterology and Nutrition. 21.443-445
  7. Karlsson B, Gustafsson J,Hedov G, Ivarsson S-A,Anneren G (1998) Thyroid dysfunction in Down’s syndrome:relation to age and thyroid autoimmunity. Arch. Dis Childhood.79.242-245.
  8. Sharav T, Collins RM, Baab PJ (1988); Growth studies in infants and children with Down’s syndrome and elevated levels of thyrotropin. Amer J Dis Child 142: 1302-1306.
  9. Growth charts for children with Down’s syndrome. Harlow Printing. South Shields NE33 4PU. UK
  10. Styles ME, Cole TJ, Dennis J, Preece MA (2001) New cross sectional stature, weight and head circumference references for Down’s syndrome in the UK and Republic of Ireland. Arch.Dis.Childhood. In Press.
  11. Chumlea WC, Cronk CE. (1981) Overweight among children with Trisomy 21. J.Ment.Defic.Res. 25.275-280
  12. Prasher,VP.(1995) Overweight and obesity amongst Down’s syndrome adults. J.Intellectual.Disability Res. 39.5.437-441
  13. Chilvers M (1997) Time for children Down’s syndrome to regain birth weight. Nottingham audit findings presented at DSMIG meeting September 1997.
  14. Spender Q, Stein A, Dennis J, Reilly SF, Percy E, Cave D. (1996) An exploration of feeding difficulties in children with Down’s syndrome. Dev Med Ch Neurol. 38. 681-694
  15. Sharav T, BonmanT (1992); Dietary practices, physical activity and Body Mass Index in a selected population of Down’s syndrome children and their siblings. Clin Paediat 31 (6): 341-344.
  16. Luke A,Roizen NJ,Sutton M,Schoeller DA (1994) Energy expenditure in children with Down syndrome: Correcting metabolic rate for movement. J.Pediatrics. 125 no5 829-838
  17. Arnell H, Gustaffson J, Ivarsson SA, Anneren G. (1996) Growth and pubertal development in Down’s syndrome. Acta Paediatr. 65:1102-6.
  18. Allen DB, Frasier SD, Foley TP Jr, Pescovitz OH (1993); Growth hormone for children with Down’s syndrome (editorial). J of Pediatrics, 123:742-3.
  19. Anneren G, Gustafsson J, Sara VR, Tuvemo T. (1993); Normalised growth velocity in children with Down’s syndrome during growth hormone therapy. J of Intell Disability Res 37(4): 381-7.
  20. Torrado C, Bastion W, Wisniewski KE, Castells S (1991). Treatment of children with Down’s syndrome and growth retardation with recombinant human growth hormone.J Pediatr 119 (3):478-83
  21. Anneren G, Tuvemo T, Carlson-Skwirut C, Lonnerhom T et al. (1999) Growth hormone treatment in young children with Down’s syndrome: effects on growth and psychomotor development. Arch Dis Child, 80:334-338.
  22. Brook,CGD.,Gasser,T.,Werder,EA.,Prader,A.,Vanderschueren-Lodewykz,MA.,(1977) Height correlations between parents and mature offsprong in normal subjects and in subjects with Turner’s and Klinefelter’s and other syndromes Annals of Human Biology 4.1.17-22

HEARING IMPAIRMENT

(Approved by BACDA and BAAP. Sept 2000)

Well over 50% of people with Down’s syndrome have significant hearing impairment which may be mild, moderate, severe or profound. Sensorineural and/or conductive loss may be present at any age. 3.4.5.7.17. Hearing impairment can be successfully managed in this population. If undetected it is likely to be a significant cause of preventable secondary handicap 3.10.12.13.21. Lifelong audiological surveillance is essential for all. The main cause of conductive loss is persistent otitis media with effusion (OME, glue ear). The natural history of OME and response to intervention differ from that in the general population hence local surveillance and management protocols need to be set up specific to people with Down’s syndrome.3.5.9.19

People with Down's syndrome of all ages should have rapid access to specialist audiology services 3.

Because of an increased incidence of congenital sensorineural loss newborns should be included in neonatal screening programmes 1.14. This does not preclude the need for ongoing surveillance 8.

Guidance for parents of children with Down's syndrome should include discussion about hearing problems and their management, supported by good quality written information.15

Whether or not a baby has passed a neonatal screen all should have full audiological assessment between age 6 and 10 months. This should include measurement of auditory thresholds, impedance testing and otoscopy 18. To ensure inclusion of the child with Down’s syndrome participation in existing child health hearing surveillance programmes should be encouraged.

Therefore by 10 months it should have been established whether or not a child has any degree of permanent hearing loss with or without OME. A clear management plan must have been agreed with the parents and intervention instigated where necessary.

In the second year (usually around 18 months) all children – whatever their previous hearing status - should have further audiological review carried out in a manner appropriate for a child with learning disability. This should include assessment of auditory thresholds, impedance testing and otoscopy. This should be repeated at least yearly until age 5 and thereafter 2 yearly for life. More frequent testing will be necessary if problems exist.

Transition of care from paediatric to adult services should involve direct transfer of care to a named person.

At all ages people with Down's syndrome have narrow ear canals which predispose to accumulation of wax 4. This may affect impedance testing and hearing.

Most people with Down’s syndrome are able to respond to standard tests – eg distraction; speech discrimination; pure tone audiometry (play or standard); and visual reinforcement audiometry – as long as these are carried out by testers with expertise in working with people with learning disability. Threshold measurement tests appropriate to developmental age must be used 6.20.

Because of increased incidence of sensorineural as well as conductive loss the frequency range tested should include 8000Hz whenever feasible as this may be an early warning of impending sensorineural deafness 11.22.

Diagnostic Auditory Brain Stem (ABR) responses in people with Down's syndrome must be interpreted with caution 7.22

As in the general population all those who are hearing impaired should have access to specialist hearing support services (Speech and Language Therapy; Teachers of the deaf; hearing Therapists etc)

At all ages particular attention should be paid to the treatment of suppurative nasal and ear conditions 3.16.

In adults with the syndrome hearing assessment is essential in the differential diagnosis of depression and dementia 7.

References

  1. Barnet,AB.,Weiss,IP.,Aysun,S.,Bernardo,EB.,Saumweger,RW.,Hines,A.(1988) Hearing loss in infants with Down's syndrome. Paediatric Research.25. 289A
  2. Bennett.KE.,Haggard,MP.(1999) Behaviour and cognitive outcomes from middle ear disease. Arch.Dis.Child.80.28-35
  3. Cunningham,C.,McArthur,K.,(1981) Hearing loss and treatment in young Down’s syndrome children. Child: care,health and development. 7 : 357-374.
  4. Dahle,AJ.,McCollister,FP.,(1986) Hearing and otologic disorders in children with Down syndrome. American Journal of Mental Deficiency. 90 (6) : 636-642.
  5. Davies,B.,Penniceard,RM.(1980) Auditory function and receptive vocabulary in Down's syndrome children. In.'Disorders of Auditory Function lll' Eds Taylor,IG.,Markides,A. Academic Press.
  6. Evenhuis,H.M. (1996) Dutch consensus on diagnosis and treatment of hearing impairment in children and adults with intellectual disability. J.Intel. Disabil. Res. 40(1) 451-456
  7. Evenhuis,HM.,van Zanten,GA.,Brocnar,MP.,Roerdinkholder,WHM.(1992) Hearing loss in middleage persons with Down syndrome. Am.J.on Mental Retardation.97.47-56.
  8. Hall,DMB.,(1996) Screening for hearing defects. Health for All Children, Oxford Univ. Press. 3rd Edition : 146-162.
  9. Iino,Y.,Imamura,Y.,Harigai,S.,Tanaka,Y. (1999) Efficacy of tympanostomy tube insertion for otitis media with effusion in children with Down syndrome. Int. J.of Ped. Otorhinolaryngology. 49(2) 143-149
  10. Kaplan,DJ.,Fleshman,JK.,Bender,TR.,Baum,C.,Clark,PS.(1973) Long term effects of otitis media. A ten year cohort of Alaskan Eskimo Children. Pediatrics.52.577-585
  11. Keiser,H.,Montague,J.,Wold,D.,Maune,S.,Pattison,D.(1981) Hearing loss of Down's syndrome adults. Amer.J.Ment. deficiency.85 467-472
  12. Libb.JW. et al.(1985) Hearing disorder and cognitive function of individuals with Down syndrome. Am.J of Mental Deficiency.90. 353-6
  13. Menyuk,P.,(1979) Design factors in the assessment of language development in children with otitis media. Annals of Otology, Rhinology & Laryngology - supplement. 88 (5 Pt. 2 Suppl 60) : 78-87
  14. National Deaf Children’s Society (1994) Quality standards in Paediatric audiology. Volume 1. Guidelines for early identification of hearing impairment. ISBN 0904691 36 5
  15. NICE.(2000) Referral practice for persistent otitis media with effusion in young children. NICE referral practice. May 2000. Pub NICE. ISBN. 1-84257-020-X
  16. Polnay,L.,Hull,D.,(1993) Hearing. Community Paediatrics, Churchill Livingston. 2nd Edition : 323-334.
  17. Roizen,N.(1997) Hearing loss in children with Down's syndrome: a review. Down Syndrome Quarterly.2(4).1-4
  18. Schwartz,DM.,Schwartz,RH.(1978) Acoustic impedance and otoscopic findings in young children with Down's syndrome. Arch Otolaryngol.104.652-656
  19. Selikowitz,M. (1993) Short-term efficacy of tympanostomy tubes for secretory otitis media in children with Down’s syndrome. Dev.Med and child. Neurol. 35 511-515
  20. Sonsken,P.M. (1985) A developmental reappraisal of clinical tests of hearing for normal and handicapped children. Part 3.The handicapped child. Mat and Ch Health. June 1985. 170-175
  21. Whiteman,BC.,Simpson,GB.,Compton,WC.(1986) Relationship of otitis media and language impairment of adolescents with Down’s syndrome. Mental Retardation.24. (6) : 353-356.
  22. Widen,JE.,Folsom,RC.,Thompson,G.,Wilson,WR.(1987) Auditory brainstem responses in young adults with Down syndrome. Am.J.Mental Deficiency.91.472-479

THYROID DISORDER

At all ages thyroid disorder (usually hypothyroidism) occurs more frequently in people with Down's syndrome than in the general population 1.2.3.4.5. Around 10% of the school age population have uncompensated hypothyroidism. The prevalence increases with age 6. If undiagnosed, thyroid disorder constitutes a significant cause of preventable secondary handicap. Diagnosis on clinical grounds is unreliable 7.8. Biochemical screening is essential. As in the general population those with significant abnormalities of any TFT should either be treated (if there is uncompensated hypothyroidism) or kept under close clinical and biochemical surveillance.

All babies in the U.K. have a neonatal screen for hypothyroidism 9. For children with Down's syndrome each district should have a policy of screening after this, starting in infancy and continuing throughout life.

Biochemical testing, including estimation of T4, TSH, and thyroid antibodies should be carried out at least once every two years from age 1 and throughout life. 6.11.

Fingerprick dried blood spot TSH measurement (Guthrie) is being investigated. Preliminary evaluation suggests that this may prove an effective screening procedure 10. If available, and if replacing venous testing (see 3 above) this should be carried out at least annually.

Transient changes may occur.11.12. Mildly raised TSH (not greater than 10mu/l) or the presence of antibodies with normal T4 and no clinical evidence of hypothyroidism does not usually warrant treatment 13.14. It does however indicate increased likelihood of developing uncompensated hypothyroidism. Such people should therefore be tested more frequently than those with normal test results. A specialist opinion may be required.

Clinicians should always bear in mind the prevalence of thyroid disorder in people with Down's syndrome and have a low threshold for testing thyroid function if there is any clinical suspicion at times between biochemical testing.

As in the general population key clinical pointers are lethargy and/or changes in affect, cognition, growth, or weight.

Consideration of hypothyroidism is mandatory in the differential diagnosis of depression and dementia 15.16 .

The possibility of hyperthyroidism should also be born in mind 5.17.

References (Thyroid disorder) :

  • Fort P, Lifshitz F, Bellisario R et al.(1984) Abnormalities of thyroid function in infants with Down syndrome. J Pediatr; 104 : 545-9.
  • Loudon MM, Day RE, Duke EMC (1985) Thyroid dysfunction in Down's syndrome. Archives of Disease in Childhood 60 : 1149-1151.
  • Sare Z, Ruvalcaba RHA, Kelley VC (1978) Prevalence of thyroid disorders in Down syndrome. Clin Genetics; 14: 154-8.
  • Pueschel SM, Pezzullo JC (1985) Thyroid dysfunction in Down Syndrome. Am J Dis Child ; 139 : 636-9.
  • John JE, Cook AR (1962) Hyperthyroidism in patients with Mongolism. J Clin Endocrinol ; 22 : 665-8.
  • Prasher V (1995) Reliability of diagnosing clinical hypothyroidism in adults with Down syndrome. Aus. and NZ J of Developmental disabilities; 20: 223 - 233.
  • Mani C (1988) Hypothyroidism in Down syndrome. Br J Psych; 153: 102-4.
  • Quinn MW (1980) Down's syndrome and hypothyroidism. Ir J Med Sci; 149: 19-22.
  • Grant DB, Smith I (1988) Survey of neonatal screening for primary hypothyroidism in England, Wales and Northern Ireland 1982-84. Br Med J; 296 : 1355-8.
  • Noble SE, Keyland K, Findlay CA, Clark CE, Redfern J, MacKenzie JM, Girdwood RWA, Donaldson MDC (2000) School based screening for hypothyroidism in Down’s syndrome by dried blood spot TSH measurement. Arch.Dis.Chil. 82 27-31
  • Selikowitz M (1993) A five year longitudinal study of thyroid function in children with Down syndrome. Dev. Med. Child Neurol; 35 ; 396-401.
  • Cutler AT, Benezra-Obeiter MD, Brink SJ (1986) Thyroid fumction in young children with Down syndrome. Am.J.Dis.Child. 140479-483
  • Tirosh E, Taub Y, Scher A, Jaffe M, Hochberg Z (1989) Short-term efficacy of thyroid hormone supplementation for patients with Down syndrome and low borderline thyroid function. Am J of Mental Retardation ; 93 ; 652-6.
  • Vanderpump MPJ, Ahlquist JAO, Franklyn JA, Clayton RN on behalf of working group of RCP and Soc of Endocrinology. (1996) Consensus statement for good practice and audit measures in the management of hypothyroidism and hyperthyroidism. BMJ 313. Aug 31st. 539-544
  • Thase ME (1982) Reversible dementia in Down's syndrome. J Ment Defic. Res ; 26 ; 111-3.
  • Collacott RA, Cooper S.A, McGrotherm C (1993) Differential rates of psychiatric disorders in adults with Down's syndrome compared with other mentally handicapped adults. Br J Psychiatry ; 161 : 671-74.
  • Takahashi H, Bordy MD, Sharma V, Grunt JA (1979) Hyperthyroidism in patients with Down's syndrome. Clinical paediatrics; 18 : 273 - 275.

    • OPHTHALMIC PROBLEMS

    There is a high incidence of ocular disorder among people with Down's syndrome. 1.2.3.4.5.6 Refractive errors and/or squint may be present from an early age. Cataract and/or glaucoma may occur in infancy 7. Nystagmus is present in at least 10% of the population. Keratoconus 8.9 is more common in adolescents and young adults. If untreated most of these disorders are a significant cause of preventable secondary handicap.

    As with all children newborns with Down's syndrome should be examined for congenital cataract and should thereafter be included in community screening programmes where these exist.

    Visual behaviour must be monitored by a paediatrician. Those who start to squint or show other abnormalities of gaze, visual behaviour or attention or changes in the appearance of the eye or excessive watering in the first year of life should be referred for ophthalmological review in the normal way.

    All children should have formal ophthalmological review, including orthoptic assessment, refraction and fundus examination, during the 2nd year of life. The majority will have some deviation from normal and should be kept under close review.

    Those with no abnormality at first review should have further full ophthalmological review, including refraction, around age 4 years. If hypermetropia is not present at this age it is not likely to occur later on.

    Children and adults with Down's syndrome should be expected to respond to standard vision testing procedures at appropriate developmental age but a distraction free environment may be necessary to optimise performance. Distance and near vision should be checked at every review.

    After age 4 vision should be checked at least every two years throughout life.

    As with all children, if at any age visual acuity deteriorates a specialist opinion is required.

    If at age 4 or thereafter a child has visual acuity assessed as at least 6/9 on a linear Snellen chart then subsequent testing by a school nurse is adequate.

    Any child identified by a school nurse with less than 6/9 vision should be referred for a specialist opinion.

    Those who at age 4 are less that 6/9 but not in need of correction and those with ongoing problems should be seen thereafter by an optometrist (hospital or high-street based)/ophthalmologist or orthoptist.

    High Street opticians give an excellent service but subjects who are not cooperative in this setting should be referred to a specialist clinic.

    Any child or adult with pain, and/or changing vision, and/or red eye should be referred in the normal way for urgent specialist opinion.

    References (Ophthalmic Problems):

    1. Roizen NJ, Mets MB, Blondis TA (1994) Ophthalmic Disorders in Children with Down Syndrome Developmental Medicine and Child Neurology, 36, 594-600.
    2. Hestnes A, Sands T, Fostad K (1991) Ocular findings in Down syndrome Journal of Mental Deficiency, 35, 194-203.
    3. Catalano RA (1990) Down syndrome Survey of Ophthalmology, 34, 385-398.
    4. Caputo AR, Wagner RS, Reynolds DR, Guo S, Goel AK (1989) Down syndrome. Clinical review of ocular features Clinical Paediatrics, 28, 355-358.
    5. Berk AT, Saatci AO, Derya Ercal M, Tunc M, Ergin M (1996) Ocular findings in 55 patients with Down’s syndrome Ophthalmic Genetics.17.15-19
    6. Hiles DA, Hoyme SH, McFarlane F,(1974) Down’s syndrome and strabismus American Orthoptic Journal, 24, 63-68
    7. Traboulsi EI, Levine E, Mets MB, Parelhof ES, O’Neill JF, Gaasterland DE (1988) Infantile glaucoma in Down’s syndrome(trisomy 21) American Journal of Ophthalmology, 105, 389-394.
    8. Cullen J, Butler H (1963) Mongolism(Down’s syndrome) and keratoconus B.J. Ophthalmology. 47. 321-330
    9. Volker-Dieben,HJ.,Odenthal,MTP.,D’Amaro,J.,KruitPJ.(1993) Surgical treatment of corneal pathology in patients with Down’s syndrome J.Int.Disability.Res. 37 167-175

    Other

    Other associations, not requiring screening unless signs/symptoms, are:

    Haematology

    Over 60% of neonates polycythaemic - unrelated to congenital heart disease.

    MCV increased at all ages.

    Almost unique risk of transient abnormal myelopoesis (TAM) in newborns (approx 10%):

    Childhood leukaemia occurs 20 times more frequent than in other children. Risk around 1/100. Both AML and ALL (acute lymphoblastic leukaemia). AML is usually megakaryoblastic (very rare in other children ). Response to treatment of both AML and ALL is good. 5 year survival for AML in the UK around 60% ( same as other children). For ALL around 75% (poorer than other children). Increased risk of death whilst on intensive therapy both during induction and further treatment, because of inherent increased susceptibility to infection. Extreme vigilance and maximum supportive care is necessary at these times. Relapse rate less than for other children- survival difference is largely due to increased risk of death during treatment. Peak age at onset of leukaemia is before 4 years. No cases recorded after age 29. Low risk of other childhood cancers.

    Coeliac disease

    Prevalence 4 - 17% depending on age of sample and country of origin. May be associated with type 1 diabetes and/or thyroid disease. Clinical diagnosis difficult because of overlap with normal features of the syndrome therefore need to have low threshold of clinical suspicion.

    Airway disease

    Apart from upper airway problems, airway disease is common especially in younger children. Underlying pathology often multifactorial:

    Enquiries to: Down’s Syndrome Medical Information Services, Children’s Centre, City Hospital Campus, Nottingham NG5 1PB. UK

    Tel (0)115 962 7658. Ext 45667. (0)115 934 5502 (answerphone). Fax (0)115 962 7915

    Email:info@dsmig.org.uk