This document provides an overview of Down syndrome including definitions, features in newborns, common abnormalities, and age-specific healthcare guidelines. It summarizes the incidence of Down syndrome as occurring in 1 in 660 newborns. Common physical features in newborns include slanted palpebral fissures, anomalous auricles, and hypotonia. The document outlines numerous potential abnormalities and provides healthcare guidelines for individuals with Down syndrome from the neonatal period through adulthood.

1. DOWN SYNDROME
Dr Varsha Atul Shah

2. DOWN SYNDROME
• I. “Definitions”
• II. Principle Features in Newborns
• III. Abnormalities
• IV. Age Specific Healthcare Guidelines

3. DOWN SYNDROME; “Definitions”
• Incidence: 1:660 • Etiology: Trisomy for
newborns all or a large part of
• “The most common Chromosome 21
pattern of • Full 21 = 94%
malformation in man” • Mosaicism = 2.4%
• Translocation = 3.3%
(D/G or G/G)

4. DOWN SYNDROME; Maternal Age
• Faulty chromosome • 15-29 yrs 1:1500
distribution leading to • 30-34 yrs 1:800
Down Syndrome is • 35-39 yrs 1:270
more likely to occur at
• 40-44 yrs 1:100
older maternal age.
• >45 yrs 1:50

5. DOWN SYNDROME: Principle Features in
Newborns
• Hall found at least • Hypotonia (80%)
four of these • Poor Moro (85%)
abnormalities in all • Hyperflexible joints
newborns with Down (80%)
Syndrome.
• XS skin back of neck
• Slanted palpebral
(80%)
fissures(80%)
• Flat facial profile
• Anomalous auricles
(90%)
(60%)

6. DOWN SYNDROME: Features in Newborns (2)
• Dysplasia of pelvis (70%)
• Dysplasia of midphalanx of fifth finger (60%)
• Simean crease (45%)

7. DOWN SYNDROME; Abnormalities
• General
• Hypotonia
• Tendency to keep mouth open and
protrude tongue
• Diastasis recti
• Hyperflexible joints
• Small stature

8. DOWN SYNDROME: Abnormalities
• CNS: Mental deficiency, seizures
(5-10%),ADHD, autism, dementia
• Craniofacial: Brachycephaly, flat occiput,
mild microcephaly, upslanting palpebral
fissures, late closure of fontanels, hypo- to
aplasia of frontal sinuses, short hard
palate, small nose, low nasal bridge, inner
epicanthal folds

9. DOWN SYNDROME: Abnormalities
• Eyes: Brushfield’s spots (speckling of iris)
with peripheral hypoplasia of iris, fine lens
opacities (59%), myopia (35-40%,
hyperopia (20-25%), strabismus
(23-44%),keratoconus (5-8%), blephoritis
(50% over lifetime), cataracts, nystagmus

10. DOWN SYNDROME: Abnormalities
• EARS: • Middle ear problems
• Small (fluid and recurrent
• Overfolding of otitis media)
angulated upper helix • Sensorineural hearing
• Small or absent loss
earlobes
• Small canals

11. Down syndrome: Abnormalities
• CARDIAC (30-60%) • All infants and
• AV canal children need to have
• ASD an evaluation by a
pediatric cardiologist
• VSD and ECHO before 3
• PDA months of age.
• Aberrant subclavian • SBE prophylaxis as
artery indicated
• Tetrology of Fallot

12. DOWN SYNDROME; Abnormalities
• GASTROINTESTINAL • GU
• Duodenal web or atresia • Male: small penis,
• Tracheo-esophageal decreased fertility,
fistula cryptorchidism (27%),
• Hirschprung’s decreased testosterone
production
• Celiac disease
• Female: fertile, 50% of
• GERD
offspring will have DS,
• Ulcers 20-40% of DD women
• Constipation sexually abused over
lifetime

13. DOWN SYNDROME; Abnormalities
• DIETARY • RECOMMENDATIONS
• Obesity • Reduced caloric intake
• Increased physical
• Increased
activity
triglycerides • Consider nutritional
• Decreased HDL consult earlier rather than
cholesterol, later
apolipoprotein A1,
HDL:TG ratio

14. DOWN SYNDROME; Abnormalities
• ENDOCRINE • HEME
• Thyroid Disorders: • Immune function may
• Congenital be impaired with
hypothyroidism (27X
decreased IG2 and
general population)
IG4 and increased
• Hypothyroidism (15%)
IG1 and IG3 as well
• Hyperthyroidism
as cellular immune
• Lower incidence of
deficits
Diabetes Mellitus
• Leukemia (1:95)

15. DOWN SYNDROME: Abnormalities
• MUSCULOSKELETAL • Loss of upper body
• Atlanto-axial strength, abnormal
instability(14%) neurological reflexes,
• Risk of spinal cord injury change in
(1%) Symptoms include bowel/bladder
neck pain, posturing of
head, torticollis, change
functioning
in gait • DDH
• Hand/foot deformities

16. DOWN SYNDROME: ABNORMALITIES
• RESPIRATORY
• Sinusitis
• Pneumonia
• Sleep Apnea

17. DOWN SYNDROME: Abnormalities
• SKIN • HAIR AND TEETH
• Dry skin(75%) • Fine, soft, sparse hair
• Elastosis perforans
• Hypoplastic,
serpignosa
• Loose folds in posterior
irregularly placed
neck (infancy) teeth, fewer caries
• Chelitis
• Alopecia areata
• Cutis marmorata

18. DOWN SYNDROME
AGE SPECIFIC HEALTH CARE
GUIDELINES (FROM COHEN)

19. DOWN SYNDROME: NEONATAL
• HISTORY • EXAM
• Parental concerns • Cardiac
• Check for GI problems
• Cataracts
• Hearing/Vision
•
• Otitis media
Family supports
• Fontanelles (think
thyroid)

20. DOWN SYNDROME: NEONATAL
• LABS, CONSULTS • Opthalmologist
• Chromosomal karyotype • Feeding specialist if
• Genetic counseling there are feeding
• T4, TSH difficulties (OT, SLP,
• Mandatory screening Lactation Nurse)
• Pediatric cardiology
• ECHO
• BAER

21. DOWN SYNDROME: NEONATAL
• DEVELOPMENTAL • OTHER
• Discuss Early • Refer to local Down
Intervention
Syndrome parent
• Refer for enrollment in
group or PRO
local program
(Parents Reaching
Out) for family
support
• The Web

22. DOWN SYNDROME: INFANCY (2-12 MONTHS)
• HISTORY • EXAM
• Parental concerns • General neurological,
• Respiratory infections neuromotor,
(especially otitis media)
musculoskeletal exam
• Constipation (use
aggressive dietary • TMs (refer to ENT if
measures, consider you cannot see them
Hirschprung’s) and are suspicious of
• Vision/Hearing otitis)

23. DOWN SYNDROME: INFANCY
• LAB, CONSULTS • BAER or other
• If not done as newborn, assessment of hearing by
must have pediatric 6 months if not done as
cardiology evaluation and newborn.
ECHO. Remember, • Pediatric opthalmology
patients with VSD or AV evaluation by 6-12
septal defect may quietly months if not done as
be developing newborn.
progressive pulmonary • ENT for recurrent otitis.
hypertension • T4, TSH if not done yet.

24. DOWN SYNDROME: INFANCY
• DEVELOPMENTAL • RECOMMENDATION
• Early Intervention S
• PT, OT evaluations • Apply for SSI
• Developmental
• Estate planning
assessment
• Custody
arrangements
• Family support
• SBE prophylaxis as
indicated

25. DOWN SYNDROME: CHILDHOOD (1-12 YRS)
• HISTORY • Ear problems
• Parental concerns • Sleep problems
• Current level of
• Constipation
functioning
• Current programming (EI, • Obesity
3-4 year old program, • Review audiologic
school, special education) and thryoid function
• Behavior problems tests
• Review opthalmologic
and dental care

26. DOWN SYNDROME: CHILDHOOD
• EXAM • EXAM
• General pediatric and • Eye exams every 2 years
neurologic exam. if normal, more often if
• LABS, CONSULTS abnormal
• T4,TSH yearly • Lateral C-spine films
• ECHO if not done (neutral, flexion and
extension) at 3 years and
• Auditory testing yearly
l2 years for atlanto-axial
1-3 yrs, every 2 years instability
3-13 years
• Dental at 2 yrs & q6 mo.

27. DOWN SYNDROME: CHILDHOOD
• DEVELOPMENTAL • RECOMMENDATIONS
• Enroll in appropriate • Twice daily tooth
educational program brushing
• Yearly IFSP 0-3 yrs, IEP • Caloric intake below RDA
4-21 yrs. • Monitor diet, high fiber
• SLP evaluation • Exercise
• Consider augmentive • OT, PT, SLP as needed
communication device as • SBE prophylaxis as
indicated needed

28. DOWN SYNDROME: CHILDHOOD
• RECOMMENDATIONS • Reinforce the
• Monitor family needs for importance of good
respite care, supportive self-care skills
counselling, behavior
(grooming, dressing,
management techniques
money management
• Consider pneumovax and
annual flu vaccines
skills)

29. DOWN SYNDROME: ADOLESCENCE (12-18
YEARS)
• HISTORY • EXAM
• Interval medical history • General physical and
• Sleep apnea neurological exam (r/
• Vision/Hearing o atlanto-axial
• Behavioral problems dislocation
• Address sexuality issues • Obesity
• Pelvic if sexually
active

30. DOWN SYNDROME: ADOLESCENCE
• LAB, CONSULTS • Consider gynecologist
• T4, TSH yearly experienced in
• Hearing and Vision every working with special
other year needs individuals for
• ECHO for individuals pelvic exam for
without CHD once in sexually active
early adulthood (18-20
teenager
years) to rule out valvular
disease

31. DOWN SYNDROME: ADOLESCENCE
• RECOMMENDATIONS • Diet and exercise
• Begin transition planning program
• Dental exams twice • Update estate
yearly planning and custody
• SSI arrangements
• SBE prophylaxis as • Social/recreational
needed programs
• Annual flu shot • Register to vote and
selective service at
18

32. DOWN SYNDROME: ADOLESCENCE
• RECOMMENDATIONS • Smoking, drug,
• Discuss plans for alcohol education
alternative long term
• Health and sex
living arrangements
education including
• Reinforce good self-care
skills counselling regarding
• Yearly IEP and abuse prevention
psychoeducational • Continue SLP
evaluations services as needed
• Vocational issues

33. DOWN SYNDROME: ADULT (>18 YEARS)
• HISTORY • Incontinence of urine and/
• Interval medical history or stool)
• Sleep apnea • GERD
• Thyroid • Atlanto-axial instability
• Monitor for loss of skills, • Obesity
behavioral changes,
mental health problems,
dementia (decline in
function memory loss,
ataxia, seizures,

34. DOWN SYNDROME: ADULTS
• EXAM • Yearly breast exams
• General physical and • Testicular exam for men
neurologic exams • Prostate exam for men
• Monitor weight
• Pap smears for sexually
active women every 1-3
years
• Pelvic every 3 years for
non-sexually active
women

35. DOWN SYNDROME: ADULTS
• LAB, CONSULTS • Mammograms yearly
• T4, TSH yearly from age 50 years
• Eye exam every 2 years • Mammograms yearly
• from age 40 years for
Auditory testing every 2
women with first degree
years
relative with breast
• Repeat C-spine films
cancer
once in adulthood
• Twice yearly dental
• ECHO to rule out valvular
exams
disease once in early
• Mental health referral ?
adulthood

36. DOWN SYNDROME: ADULTS
• RECOMMENDATIONS • Update estate planning
• SLP as needed • Guardianship issues
• Consider augmentive • Social/recreational
communication device programs
• Vocational issues • Voting, selective service
• Discuss plans for • Reinforce self-help skills
alternative long term • Bereavement counselling
living arrangements when indicated
• Discuss advanced
directives

37. DOWN SYNDROME: ADULTS
• RECOMMENDATIONS
• SBE prophylaxis for
patients with cardiac
disease
• Annual flu shot
• Diet and exercise
programs

38. DOWN SYNDROME: ADULTS
• PSYCHIATRIC • Consider pain from
DISORDERS GERD, dental
• First rule out medical abscess, sinusitis,
cause for changes in
otitis, fracture,
behavior, SIB, loss of
skills, incontinence, glaucoma
change in appetite, • Thyroid
weight, sleep or energy • Sleep apnea
level, aggressive
behavior, crying. • AAI
• Polypharmacy

39. DOWN SYNDROME: ADULTS
• PSYCHIATRIC • Depression may be
DISORDERS seen in reaction to
• Depression: sad, irritable loss: death in the
mood, disturbances in family, loss of
appetite, sleep, energy, caretaker, roommate.
loss of interest in • Psychosis and
previously enjoyable schizophrenia
activities, skill and uncommon
memory loss, self-talk,
withdrawal. • OCD
• Anxiety disorders

40. DOWN SYNDROME: ADULTS
• PSYCHIATRIC • occupational
DISORDERS functioning. It is
• Dementia (Alzheimer) progressive and is
• A neuro-psychiatric associated with senile
syndrome of memory loss plaques and
that prevents new neurofibrillary tangles
information from being in the brain on
learned, decline of postmortem exam. It
intellectual skills which results in inability to
impairs social and care for oneself and,
eventually, death.

41. DOWN SYNDROME: ADULTS (Patients showing
Deterioration by Age Groups)
AGE n %
<39 0 0
40-49 10 11
50-59 33 80
60-69 20 91
>70 2 100

42. DOWN SYNDROME: REFERENCES
• 1. Cohen, W.I. “Health Care Guidelines for Individuals with Down
Syndrome” Down Syndrome Quarterly Vol 1 No 2 . 6-96
• 2. Visser, F.E., etal. “Prospective Study of the Prevalence of
Alzheimer-Type Dememtia in Institutionalized Individuals with Down
Syndrome” AJMR Vol 101, No 4, l997, 400-412.
• 3. Caring for Individuals with Down Syndrome and Their Families.
Third Ross Roundtable on Critical Issues in Family Medicine. 1994.
• 4. Pueschel, S.M. and Sustrova, M. Adolescents with Down
Syndrome. Paul H. Brookes Publishing Co., Inc. 1997.
• 5. Smith, D.W. Recognizable Patterns of Human Malformation.
Third Edition. W.B.Saunders Co. 1982.