This document provides a template for documenting the history and physical examination of a patient with Down syndrome. It includes sections on the patient's history of present illness, past medical/surgical history, family/social history, review of systems, physical and developmental assessments. The history and exam cover common features of Down syndrome like congenital heart defects, gastrointestinal issues, hearing/vision problems, developmental delays, and risk for certain medical conditions. The template outlines important items to address during routine follow-up care from infancy through adolescence.

1. 1
Down`s Syndrome (Trisomy 21)
Down Syndrome Long Case (Template)
1) History
- Presenting complaint
- Reason for current admission.
- HOPI
- SOCRATES about presenting complaint(s), TRO other differential diagnosis
- History for Down syndrome
Diagnosis - When made?
- Prenatal (increased nuchal fold thickness, maternal serum screening
- Birth
- Age in days)
- Where
- Problems/symptoms at birth/diagnosis:
- CVS: cyanosis, tachypnoea, poor feeding
- GIT: vomiting (duodenal atresia), delay in meconium passage
- Haemato: transient myeloproliferative disorder
- Vison & hearing aspects
- Who gave the diagnosis,
- Initial reaction to the diagnosis
-Initial investigations carried out (karyotype, full blood examination, CXR,
electrocardiography, echocardiography, angiography, abdominal X-ray, USS,
brainstem auditory evoked response, ophthalmological assessment)
- Genetic counselling given.
Initial treatment Surgical, any complications from surgery
- CVS: correction of atrioventricular canal
- GIT: correction of duodenal atresia; staged reduction of omphalocoele
Pharmacological (eg. diuretics) & side effects thereof.

2. 2
- Past-Medical & Surgical History
Past-medical
condition
- Indications for, and number of, previous hospital admissions
- Pattern and timing of change in condition
- CVS aspects: when cyanosis or heart failure developed, when and how it was
controlled
- GIT aspects: when operative procedures were undertaken, duration of
hospitalisation, how long until feeding was established). Episodes of
infection.
- Other disease complications
- Development of hypothyroidism, coeliac disease, obstructive sleep apnoea
(OSA), seizures, leukaemia
Past-medical or
surgical
intervention
-CVS: Past surgery, complications, plans for further operative procedures. Past
interventional catheter procedures. Medications, past & present, side effects of
these, monitoring levels, treatment plans for the future. Antibiotic prophylaxis
for dental procedures, maintenance of dental hygiene. Compliance with
treatment. Any identification bracelet. Instructions for air travel and high
altitude. Any recent investigations monitoring treatment. Any recent changes
in treatment regimen, and indications for these.
-GIT: Past surgery, complications thereof, plans for further operative
procedures. Compliance with treatment (eg. following diet for coeliac disease).
Any recent investigations monitoring treatment. Any recent changes in
treatment regimen, and indications for these.
-Hearing and vision: past ear, nose and throat surgical intervention, hearing aid
placement, ophthalmological intervention, glasses.
-OSA: Past adenotonsillectomy, nasal mask continuous positive airway pressure
(CPAP).
- Treatments for other conditions: hypothyroidism, atlantoaxial subluxation,
seizures, leukaemia, arthritis, diabetes mellitus.
- Current Functional Status
Current state
of health
Note any of
the following
symptoms:
- CVS disease
Fatigue, shortness of breath, cough, sweating, poorfeeding, recurrent chest
infections; symptoms suggesting arrhythmias, such as syncope, alteration of
consciousness, dizziness, palpitations, `funny feeling` in the chest, chest pain)
- GIT disease
Nausea, vomiting, change in bowel habit
- Recurrent infection (how often, what sites [usually upper or lower respiratory
tract], treatment required, any prophylactic antibiotics)
- Hearing impairment (compliance/problems with hearing aids, impacted
cerumen, ventilation tubes for chronic otitis media)
- Visual impairment (development of refractive disorders, keratoconus, corneal
opacities, cataracts).
- Weight concerns (obesity, non-compliance with diet, exercise or sign of
hypothyroidism)
- OSA symptoms (snoring, restless sleep, daytime somnolence)
- Skin problems
- Children: Seborrhoeic dermatitis, palmar/plantar hyperkeratosis, xerosis
- Adolescents: Folliculitis (esp back, buttocks, thighs, perigenital area), fungal
infections (skin and nails), atopic dermatitis
- Oral health
Level of oral hygiene, dental caries, peridontal disease, bruxism (stereotyped

3. 3
orofacial movements with teeth grinding), intervention for malocclusion, non-
compliance with dental recommendations).
- Respiratory problems (recurrent pneumonia due to silent aspiration)
- Orthopaedic issues
- Limping can be due to atlantoaxial subluxation, acetabular dysplasia with
subluxing hips [not more common in DS, but may appear later], slipped femoral
epiphysis, arthritis or leukaemia
- Foot problems (hallux valgus, hammer toe deformities, plantar fasciitis, pedal
arthritis)
- Joint problems (polyarticular onset juvenile arthritis-like arthropathy)
- Diabetes mellitus (increased drinking or eating, weight loss, lethargy)
- Hypothyroidism (dry skin, cold intolerance, lethargy)
- Haematological neoplasia
Acute lymphoblastic leukaemia (ALL) or acute non-lymphoblastic leukaemia
(ANLL) occur 10-15x more frequently in DS, with usual symptoms of pallor,
bruising, fever, hepatosplenomegaly and lymphadenopathy
- Reproductive issues in adolescents
Difficulties with menstrual hygiene, use of oral contraceptives, Depo-provera,
presentation of premenstrual syndrome (PMS) with temper tantrums, autistic
behaviour episodes, seizures, sex education, desire to reproduce
- Neurological issues
Seizures (more frequent than general population, but less than other causes of
intellectual impairment), strokes (due to cyanotic CHD, or moyamoya disease)
Current state
of behaviour
Ask about possible co-morbid psychiatric/behavioural issues:
- Symptoms of ADHD (inattention, hyperactivity, impulsivity); any treatment for
these.
- Symptoms of ASD (impaired social interaction, impaired communication,
behaviour patterns including preferring own company, tendency to be loner, `in
their own world`), most problematic behaviours at present (eg. rituals, anxiety,
aggression, self-injury); any treatment for these.
- Other behavioural concerns: depression, conduct disorder, oppositional defiant
disorder, aggressive behaviour; any treatment for these.
- Impact of these co-morbid issues (on family, educational facility [eg. special
school], therapists, carers)
- Paediatrics history
Birth history Relevant antenatal, intrapartum & post-natal history, cord blood screening
Immunisation Any delays, local doctor`s attitudes, parents` understanding of importance of
immunisation.
Developmental Any developmental delay
Dietary Breastfeeding, weaning, feeding difficulty, food history
- Social history
Impact on
child
Level of functioning in activities of daily living (ADLs), schooling (type of school,
level of support from education department, therapists, academic performance,
teachers` attitudes, peer attitudes, teasing, amount of school missed and whether
schooling is appropriate
Impact on
siblings
Effect of family`s financial burden, whether siblings feel comfortable to bring
friends home, whether siblings miss out on parental time, plans for siblings to act
as guardians in future.

4. 4
Impact on
parent
Financial situation, financial burden of disease so far, government allowances
being received, marriage/partnership stability, restrictions on social life, plans for
further children,genetic counselling, availability of prenatal diagnosis,contingency
plans for child`s future, guardianship and power of attorney issues
Social support Social worker, contact with DS parent support groups, any available respite.
Parents` degree of understanding regarding health supervision issues in DS.
Access to
health
Access to local doctor, paediatrician, neurodevelopmental clinic, various
subspecialty clinics attended (where, how often), other clinics attended,alternative
practitioner (e.g. homeopathy) involvement.
- Summary (include PC, important history, functional status)
2) Physical Examination
A. Measurement
Height, Weight, Head circumference, Plot & assess growth chart, Calculate height velocity, Request/
plot birth parameters, parent`s percentiles and ages at puberty
B. Systematic
HEENT, Upper limbs
(General inspection)
- Diagnostic facies
- Tanner stagging
- Nutritional status (obese/thin)
- Skeletal anomalities (pectus excavatum/scoliosis)
- Skin (cutis marmorata, atopic eczema, hyperkeratotic dry skin, fungal
infections, pustular folliculitis, vitiligo, seborrhoeic dermatitis)
- UL (manoeuvres: palm up (detect simial crease,clinodactlyl), check for
hyperextensibility (hypotonia)
- Fingers (brachydactyly-short fingers), 5th
finger (hypoplasic mid-phalanx)
- Nails (clubbing in cyanotic heart disease)
- Palms (Simian creases)
- Blood pressure (elevated in occult renal disease)
- Joints (hyperflexibility, restricted movement: arthropathy)
- Head (microcephaly, brachycephaly, flat occiput, facial profile: fat, late
fontanelle closure)
- Eye (examine glasses for myopia, check vision with wearing glasses,
epicanthal folds, upward slant of palpebral fissures, prominent eyes:
coexistent hyperthyroidism, blocked-tear duct: infant, ptosis, squint,
nystagmus)
- Conjunctival pallor (iron deficiency, TAM, AML, ALL)
- Scleral jaundice (coexistent liver disease)
- Iris (Brushfield`s spots: white speckling of peripheral iris)
- Cornea (buphthalmos: large, cloudy, glaucoma, keratoconus)
- Visual fields (defect, CVA from cyanotic heart disease)
- Eye movement (nystagmus)
- Ophthalmoscopy (cataracts)
- Nose (small, flat nasal bridge)
- Mouth, chin (central cyanosis: various CHD, tendency to open mouth)
- Palate (short hard palate)
- Teeth (hypodontia,irregular placement,periodontal disease,dental caries)
- Tongue (protruding, fissured)
- Tonsils (enlarged causing OSA, absence: previous adenotonsillectomy)
- Ears (wear hearing aid, assess hearing loss (conductive/sensorineural,
small, overfolded upper helix, small/absent earlobes, low-set, eardrum:

5. 5
chronic serous otitis media, atelectatic eardrum, tympanic membrane
scarring, permanent perforation, middle-ear cholesteatoma)
- Neck (short, pterygiumcolli, scoliosis, excess skin back of neck, low
posterior hairline, goitre(thyroid disease), torcollis (spinal cord
compression from atlanto-axial instability)
Chest - Inspection
- Scars (repair of CHD:, repair of tracheo-oesophageal fistula, insertion of
access port for chemotherapy for ALL, AML)
- Tanner staging in girls
- Sternal deformity: pectus excavatum or carinatum
- Palpate & auscultate praecordium
- Various forms of CHD, loud S2 with OSA, development of mitral valve or
tricuspid valve prolapse or AR)
Abdomen - Inspection
-Scars (repairs of GIT anomalies eg. duodenal atresia, pyloric stenosis,
Hirchsprung disease, omphalocele, imperforate anus; repairs of urinary
tract anomalities eg. vesicoureteric reflux, posterior urethral valve; renal
transplantation eg. dysplastic kidneys, glomerulosclerosis; others
operative condition eg. Crohn`s disease)
- Palpation
- Hepatomegaly (CCF)
- Splenomegaly (SBE)
- Hepatosplenomegaly (ALL, AML)
- Enlarged kidneys (hydronephrosis)
Genitalia - Tanner staging: measure penis length & testicular volume
- Penile abnomalies: hypospadias (infant), corrected hypospadias
- Testicular anomalies: cryptochidism, enlarged(seminoma), leukaemic
deposits
Lower limbs, Gait, Back - Lower limbs
- Inspection (Clubbing of toes (CHD), saddle gap, single plantar crease,
hallux valgus, hammer toes, fungal infection of nails (adolescents), pes
planovalgus)
- Palpation (ankle oedema- CCF with CHD)
- Back (short neck/neck webbing, bend over and touch toes for scoliosis)
- Neurological (Hypotonia, normal power, Long tract signs)-quadriparesis/
quadriplegia, Hyperreflexia (Spinal cord compression from atlanto-axial
instability, CVA/cerebral abscess complicating cyanotic CHD)
- Joint (hyperflexibility, restriction of movement)
A.Developmental assessment
Refer pg. 40. Most children with Down syndrome have developmental quotient (DQ) and later
intelligence quotient (IQ) in the range 50-70.

6. 6
Follow-up:
At 6 weeks old 1. Review chromosomal results and provide nondirective counseling for
next pregnancy
2. Review T4/TSH results
3. Cardiac assessment
4. Confirm involvement in parent support group and EIP
5. Discuss parents` concerns
First year
(Every 3 months
for 12 months)
1. Developmental assessment
2. Growth
3. Hearing assessment at 6 to 10 months
4. Visual assessment for squint
5. Fill in forms for registration with welfare department
1-6 years old
(Once yearly)
1. Regular development assessment
2. Annual hearing and visual assessment
3. Annual thyroid function test
4. Begin Dental checks at 2 years old and continue 6 monthly thereafter
5. Check on EIP. Encourage entry into normal kindergarden
6. Plan school by age of 5
7-12 years old
(Once to twice
yearly)
1. Check on school performance and placement
2. Dental checks 6 monthly
3. Annual Hearing, Visual, Thyroid function test
Adolescent 1. Discuss sexuality and employment
Facial appearance - Round face & short neck
- Flat occiput (brachycephaly & third fontanelle)
- Hypertelorism (abnormal ratio btw interpupillary distance and distance btw
lateral canthus
- Bilateral upward slanting of eyes Brushfield spots
Small, white, grayish
- Brushfield spots in iris or brown spots on the
- Congenital cataract, squint & glaucoma periphery of the iris in
-
Epicanthic folds
the human eye due to
aggregation of
- Flat nasal bridge connective tissue, a
- Protruding tongue normal iris element.
- Low set ears (ear lobe less than 1/3 below imaginary intercanthal line)
Upper and lower
limbs
- Single palmar crease (simian crease)
- Clinodactyly (incurved 5th
finger)
- Short, stubby fingers
- Hypotonia
- Sandal gap between big toe and second toe
CVS Congenital heart defects
- AVSD(most common), VSD, PDA, ASD primum & Fallot`s tetralogy
GIT - Feeding problem
- Duodenal atresia
- Pyloric stenosis
- Tracheoesophageal fistula

7. 7
- Hirschsprung disease
- Anorectal malformation
CNS - Congenital cataracts
- Glaucoma
Endocrine - Hypothyroidism
- Hypogonadism
Musculoskeletal - Congenital dislocation of the hips
Infant & childhood
General - Severe learning difficulties
- Mild to moderate mental retardation (mean IQ: 25-75)
- Delayed developmetal milestones
- Small stature (modified centile charts available)
- Feeding problems
CNS - Hearing impairment
- Secretory otitis media or sensorineural deafness
- Visual impairment
- Myopia (70 %), Squint, Nystagmus, Glaucoma
- Epilepsy (10%)
Respiratory - Recurrent respiratory infections (eg. URTI)
- Especially those with underlying congenital heart disease
- Upper airway obstruction
- Due to hypertrophy of tonsils & adenoids may lead to sleep apnoea and cor
pulmonale
GIT - Coeliac disease
Haematological - Transient Abnormal Myelopoiesis (TAM)
- Leukemia(AML when <2 yrs old, ALL when >3 yrs old)
Endocrine - Hypothyroidism
- Hypogonadism
- Diabetes Mellitus Type 1 (2 %)
Musculoskelatal - Atlanto-axial instability (rare)
* Walking, language & self-care are usually attained BUT independence is rare.
Adolescent and Adulthood
Puberty - Girls menarche only slightly delayed (fertility presumed)
- Boys are usually infertile due to low testosterone level
Others - Increased risk of Dementia/Alzheimer disease in adult life
- Shorter life expectancy

8. 8
Examination looking for Complications:
Growth
- Appropriate growth monitoring is essential. Those who are excessively short or underweight may have
additional pathology that may requires Ix and Rx
- Down`s syndrome specific growth charts provide essential reference values. The possibility of additional
pathology should be considered for those feeling in the lower centiles who do not have congenital
heart disease
- Overweight/ Obesity is not inevitable and should always be thoroughly assessed
Hearing problems
- Hearing assessment (6-10 months) include auditory thresholds, impedance tests & otoscopy
- Aim to establish whether there is permanent hearing loss by 10 months and instigate intervention
where nessasary.
Thyroid gland
- Baseline T4/TSH at birth or by 1-2 weeks of life
Cervical Spine Instability
- People with Down Syndrome have small risk for major neurological damage caused by cervical
spine instability
- While the need for Cervial spine Xrays is still debated, the American Academy of Peadiatrics
recommends for radiographs to be taken at 3 to 5 years old and repeated every 10 years. These studies
are more important for children who may participate in contact sports and are clearly indicated in those
who are symptomatic.
- Lateral cervical radiographs in the neutral, flexed and extended positions should be taken. The space
between the posterior segment of the anterior arch of C1 and anterior of the odontoid process of C2
should be measured. Measurements of less than 5 mm are normal; 5 -7 mm indicated instability; >7mm
is grossly abnormal. The cervical canal width should also be measured.
- Children with Down Syndrome should not be barred from taking part in sporting activities
- Clinical symptoms: often mild, are currently the most useful predictors of future risk and merit urgent
cervical spine X-rays and specific referral
- Symptoms of spinal cord compression may include neck pain, unusual posturing of the head and neck
(torticollis), change in gait, loss of upper body strength, abnormal nerurological reflexes, and change in
bowel/bladder functioning
Orthopaedic problems
-Include developmental dysplasia of hip, acquired hip dislocation (related to ligamentous laxity), chronic
patellar dislocation, pes planus, ankle pronation, scoliosis, degenerative joint disease
CVS
-The cardiac status of every child must be established by age of 6 weeks by neonatal peadiatric
examination and ECHO
- Even with ECHO, an occasional lesion is missed. Thus, constant clinical vigilance is essential.
Opthalmological disorders
- Besides standard visual screening, all DS children should be assessed by a paediatric opthalmologist by
6-12 months of age, and then yearly.
OSA
-Major contributor to pulmonary hypertension and development of Eisenmnger`s syndrome in children
with DS and cyanotic CHD. ENT referral for tonsillectomy and adenoidectmy is appropriate.
Obesity (>120% ideal body weight)
- Less active, prefer indoor activites, lower BMR. Reduce calorie intake, increased exercise, weight-bearing