Indian J Pediatr (June 2014) 81(6):560–567

DOI 10.1007/s12098-013-1249-7

PEDIATRICS IN GENERAL PRACTICE

Guest Editor: Bhim S. Pandhi

Diagnosis and Management of Down Syndrome

Neerja Agarwal Gupta & Madhulika Kabra

Received: 7 June 2013 / Accepted: 11 September 2013 / Published online: 15 October 2013
# Dr. K C Chaudhuri Foundation 2013

Abstract Down syndrome is the commonest chromosomal Etiology

disorder causing mild to moderate intellectual disability, yet it
is one of the neglected disorder amongst practicing physicians.
Children with Down syndrome when intervened early by speech
therapy, physiotherapy and occupational therapy and given prop-
er medical attention for different health issues, can have a better
long term outcome as compared to other genetic causes of
intellectual disability. This paper would help the general practi-
tioners to identify children with Down syndrome and to manage
the common problems associated with this condition.
Keywords Down syndrome . Trisomy 21 . Developmental
delay . Diagnosis . Management . Counseling
Introduction
Down syndrome (DS) is the commonest recognizable genetic
cause of intellectual disability and is commonly seen in gen-
eral practice. This condition is named after a British physician
John Langdon Down, who described the syndrome in 1866.
The overall prevalence varies from 1 per 800–1,200 live births
depending upon the acceptability and availability of prenatal
screening, survival and medical termination of Down syn-
drome pregnancies across the world. Prevalence of Down
syndrome is not related to race, nationality, religion or socio-
economic status. Factors associated with decreased survival
are cardiac malformations, frequent respiratory infections, and
childhood leukemia. Over the last three decades, the overall
life expectancy of individuals with DS has greatly increased
with improved care and early management of complications.
N. Agarwal Gupta (*) : M. Kabra
Division of Genetics, Department of Pediatrics, All India Institute of
Medical Sciences, Ansari Nagar, New Delhi 110029, India
e-mail: neerja17@gmail.com
Normally, each cell in humans contains 46 chromosomes but in
Down syndrome, all or some of the cells contain an extra copy
of chromosome 21. This additional chromosome 21 is respon-
sible for the physical and developmental characteristics of
Down syndrome. Based upon the type of chromosomal abnor-
mality causing extra chromosome 21, DS is classified into three
categories-
Trisomy 21
It is the commonest type and is seen in about 95 % of the
cases. In trisomy 21, each body cell has 47 chromosomes. The
extra chromosome is maternal in origin and occurs due to an
error in cell division known as non-disjunction during mater-
nal meiosis 1. Trisomy 21 usually occurs sporadically, but the
risk of having a child with Down syndrome increases with
advancing maternal age. For example-A woman has a risk of
1:1925 at age 20, 1:885 aged 30, 1:365 at 35, 1:110 at 40 and
>1:50 at >45. However, babies with Down syndrome are
born at all ages. Over 50 % of children with Down syn-
drome are seen in women less than 35 y of age due to the
fact that the majority of the childbearing population is
younger women.
Translocation Down Syndrome
In about 3–4 % of cases, the extra chromosome 21 attaches itself
to another acrocentric chromosome such as 13, 14, 15 or 21. This
is known as Robertsonian translocation. In about 2/3rd of the
cases, the unbalanced translocation is de novo, whereas in the
remainder, one of the parents is a translocation carrier. Therefore,
the presence of an unbalanced translocation in a child with Down
syndrome warrants parental chromosome analysis to rule out
Indian J Pediatr (June 2014) 81(6):560–567
balanced translocation. The commonest translocation involves
chromosome 14 and 21.
Mosaicism
Mosaicism is defined as the presence of two or more different
cell lines in an individual from a single fertilized egg. In
mosaic Down syndrome not all the cells have an extra copy
of chromosome 21, some have normal cell line of 46 chro-
mosomes and some have abnormal cell lines of 47 chromo-
somes with extra chromosome 21.
Clinically, both trisomy 21 and translocation Down syn-
drome are identical. However, mosaic Down syndrome pa-
tients can have a milder phenotype, depending upon the extent
and tissue distribution of the normal cell line.
Clinical Manifestations of Down Syndrome
The clinical diagnosis of Down syndrome is not difficult for
experienced physicians due to the characteristic gestalt of
these patients. Patients are usually identified at birth or shortly
thereafter. However, the diagnosis may be challenging in
premature babies, some older patients, certain ethnic groups,
and in mosaicism. Each individual with Down syndrome has
different healthcare needs.
Key diagnostic features are the distinctive physical appear-
ance, poor growth and developmental delay. The signs and
symptoms may be variable.
Physical Appearance
Individuals with Down syndrome can have the following
physical features-
Fig. 1 Characteristic facial features in children with Down syndrome at
different ages. Upper panel shows the characteristic flat facies with
upslant of eyes, open mouth appearance and protruded tongue. Bottom
561
& Brachycephaly with flat occiput, wide open fontanel
& Flat facial profile*, flat nasal bridge
& Protruding tongue, small mouth
& Dysplastic*, small, low set ears
& Upward slant of palpebral fissures*, epicanthic folds,
squint, speckled iris, palebrae ‘purse’ on laughing or crying
& Short and broad neck, abundant neck skin*
& Short and broad hands, short and broad fingers, small
middle phalanx of 5th finger* (clinodactyly), simian
crease (single palmer crease)
& Increased space between 1 and 2 toes (sandal gap)
& Hypotonia*, hyper-extensibility/hyper-flexibility*, lack
of Moro reflex*
Features marked with asterisks (*) are useful for making a
diagnosis in the newborn. Figure 1 shows the important fea-
tures of Down syndrome.
Growth
Children with Down syndrome generally have low birth
weight, and poor growth velocity especially during the initial
years, partly contributed by feeding problems due to hypotonia
and a small oral cavity or due to the co-morbid conditions such
as cardiovascular problems and/or other gastrointestinal prob-
lems. Thereafter, the tendency towards development of obesity
increases with age and is quite common amongst adults with
Down syndrome. The factors responsible for obesity include
associated hypothyroidism, high leptin levels, and poor basal
metabolic rate. Though the Indian growth charts are not avail-
able, growth monitoring can be done through the currently
available Western Down syndrome growth charts [1]. Regular
growth monitoring in the initial years and then annually
throughout childhood would be helpful in early identification
of under nutrition and obesity in these children [2, 3]. There are
panel shows the short hand and fingers, clinodactyly (solid arrow),
simian crease (arrow head) and sandal gap (dotted arrow)
562
presently no recommendations for using GH therapy in Down
syndrome. Appropriate management of the underlying gastro-
intestinal conditions and hypothyroidism along with balanced
diet are useful in maintaining appropriate weight for the age.
Age appropriate exercises and dietary management are helpful
for avoiding excessive weight gain.
Developmental Delay and Neurobehavioral Problems
Variable degree of developmental delay and hypotonia is a
constant feature in all patients with Down syndrome. The ma-
jority has an intelligence quotient (IQ) in the mild (50–70) to
moderate range (35–50). Children with Down syndrome show
low scores on motor, adaptive, feeding, toilet training, sleep and
social development at all ages as compared to normal children.
Motor development requires about double the time required by
an average child. They have poor language and communication
skills primarily due to speech delay, poor articulation due to the
narrow oral cavity, and lack of comprehension of language.
Overall, these patients usually have pleasant behavior, are caring,
affectionate, and quite social. Some of them are music lovers.
Increasingly, patients with Down syndrome are being di-
agnosed with autistic traits, characteristic features being bi-
zarre stereotype behavior, anxiety, and social withdrawal [4].
About 7 % of DS patients can have autism manifesting as
early as 2 or 3 y of age [5]. Almost 100 % of the patients with
Down syndrome show neuropathologic features of Alzheimer
disease by 40 y [6].
Diagnosis
Postnatal Diagnosis
Although the diagnosis of Down syndrome is mainly clinical,
the gold standard remains the chromosomal analysis that
shows an extra copy of chromosome 21. Chromosomal anal-
ysis is now widely available in India and can be done on
heparinised blood. Results are available in approximately
2–3 wk. Molecular cytogenetic methods like quantitative
fluorescent polymerase chain reaction (QF PCR) and inter-
phase fluorescence in situ hybridization (FISH) can provide
rapid diagnosis in 2 d and are sometimes needed in small or
premature neonates with some suspicion of DS.
Antenatal Screening and Diagnosis
Antenatal screening for Down syndrome is a useful test that
detects the likelihood of babies being born with Down syn-
drome. The American College of Obstetrics and Gynecology
(ACOG) and the American College of Medical Genetics
(ACMG) recommends antenatal screening for women of all
age groups [7, 8]. Antenatal screening can be done either during
Indian J Pediatr (June 2014) 81(6):560–567
the first trimester or second trimester depending upon the
availability of the test and the timing of the first visit by a
pregnant lady. First trimester screening incorporates maternal
age risk, nuchal translucency measurement by ultrasound along
with maternal serum human chorionic gonadotropin (β-hCG)
and pregnancy- associated plasma protein A (PAPP-A) levels
between 11 and 13 completed weeks. The detection rate of the
first trimester screen varies between 80 % and 82 % at a false
positive rate of 3 % [9]. Amongst the second trimester screen-
ing, quadruple test is preferred to triple test. It includes maternal
age risk and estimation of maternal serum hCG, unconjugated
estriol, α –fetoprotein (AFP), and inhibin A levels between 15
and 19 wk. If combined with 18 wk anomaly scan, the detection
rate is approximately 80 % at a false positive rate of 3 % [9]. If
the risk for Down syndrome exceeds the cutoff of 1:250,
prenatal diagnosis either by chorionic villi sampling at 11–
12 wk or amniocentesis 16–18 wk may be offered to examine
the fetal chromosomes. The results are usually available in 2–
3 wk. Rapid prenatal diagnosis in 48 h can also be provided
using QF PCR or interphase FISH.
Complications
Children with Down syndrome can also have additional medical
complications which can affect their development. These in-
clude hypothyroidism, eye problems including refractory errors,
epilepsy, deafness and otitis media, obstructive sleep apnea,
congenital heart disease, gastrointestinal malformations, celiac
disease, atlantoaxial dislocation, and transient myeloprolifera-
tive disorders. The presence of these complications requires
extra care and medical attention. A multidisciplinary team in-
volving pediatrician, developmental specialist, psychologists,
neurologists, cardiologists, ophthalmologist, ENT specialist,
speech therapist, physical and occupational therapist is essen-
tial for the best outcome. Health supervision guidelines for
individuals with Down syndrome from the American Acad-
emy of Pediatrics [2] are a useful reference for specialized
management and monitoring across various age groups.
Table 1 provides a summary of co-morbidities, their manage-
ment and monitoring.
Congenital Heart Disease
It is seen in about 50 % of individuals with DS, the
commonest being atrioventricular septal defect (AVSD) and
perimembranous ventricular septal defects followed by, patent
ductus arteriosus, atrial septal defect and Fallot tetralogy [10,
11]. Presence of congenital heart disease is an important factor
for survival [12]. Individuals with DS should undergo a com-
plete clinical evaluation along with ECG and ECHO with
frequent follow-up in the presence of congenital heart defect.
The surgical repair of cardiac defects in individuals with Down
Indian J Pediatr (June 2014) 81(6):560–567 563

Table 1 Summary of the complications, their monitoring and essential components of care for children with Down syndrome

System evaluation Methods 0–3 mo 3 mo–1 y 1–5 y 5–12 y >12 y Treatment

Growth Anthropometry At least twice in first year Annually Ensure optimal diet
and physical exercise

Hearing evaluation BERA/OAE At least twice in first year Annually Standard treatment and
for deafness, serous Tympanometry follow up as indicated
otitis media

Eye evaluation for Standard evaluation At least twice in Annually Every 2 y Every 3 y Standard treatment and
eye problems by an ophthalmologist/ first year follow up as indicated
optometrist

Thyroid profile for T4, TSH At least twice in Annually Thyroxine and follow up
hypothyroidism first year as indicated

Cardiac evaluation Clinical assessment At initial contact and follow up in the presence of congenital Follow up visits with
ECG, ECHO heart disease pediatric cardiologists,
as per need standard care

Hematological problems Review symptoms At least twice in Monitor Hb as per need in the presence Standard treatment for
for leukemia and iron and Complete blood first year of iron deficiency anemia leukemia and anemia
deficiency anemia count

Dental care Dentist evaluation Annually Standard treatment and

follow up as indicated

Essential components of care

• Physicians should be vigilant about the potential symptoms of gastroesophageal reflux disease, celiac disease, obstructive sleep apnea, atlantoaxial
dislocation
• Immunization as per schedule; Pneumococcal vaccine (23 valent) after 2 y of age for chronic cardiac or pulmonary problem
• Early intervention: physical, occupational, and speech therapy
• Chromosomal studies in all
• Early intervention: physical, occupational, and speech therapy
• Vocational training, hygiene and self-care, group homes
• Discussion about behavioral issues
• Discuss about puberty, and gynaecologic care
• During adolescence and adulthood- sexual education, and counseling regarding interpersonal relationships, risk of sexual abuse, contraception and
sexually transmitted diseases
• Parental genetic counseling and prenatal diagnosis

syndrome has become a routine now and is desirable by 6 mo
[13]. Nevertheless, medical management and maintenance of
the adequate nutrition status of the child remains the corner-
stone until cardiac surgery and even thereafter.
Gastrointestinal Malformations
GI malformations such as duodenal atresia (10 %), Hirschsprung
disease (1–3 %), gastrointestinal reflux disease (GERD) and anal
stenosis/atresia (1–4 %) may be seen in children with Down
syndrome [3, 6]. Chronic constipation, abdominal pain, recurrent
diarrhea and indigestion are common among these children.
Celiac disease (CD) is seen in about 5–12 % children with Down
syndrome [14]. Surgical treatment of gastrointestinal
malformations, antireflux regimen for GERD, gluten free diet
for CD and measures for chronic constipation not due to
Hirschsprung disease remains the same as for the general
population.
Ophthalmological Problems
Ophthalmological problems such as refractive errors (50 %),
strabismus (20–47 %), cataracts (15 %), nystagmus (10 %),
nasolacrimal duct obstruction, blepharitis (30 %), keratoconus,
defect in accommodation and retinal anomalies are quite com-
mon in children with Down syndrome [2, 3, 6]. Untreated
refractive errors can cause amblyopia between 3 and 5 y of
age. Visual problems can affect the learning potential of chil-
dren with DS. Early and timely eye evaluation for cataract and
refractive errors is helpful.
564
Ear Problems and Hearing Loss
Hearing loss can be conductive or sensorineural and is seen in
about 75 % of children with DS. The majority of these individ-
uals have serous otitis media. Undetected hearing loss can further
interfere with speech and educational efforts. A complete hearing
evaluation with brainstem auditory evoked response (BERA) or
oto acoustic emission (OAE), and tymapanometry should be
performed at regular intervals. As about 2/3rd of these individ-
uals are at risk of obstructive sleep apnea, an evaluation with
overnight polysomnography should be done in all children by
the age of 3–4 y.
Thyroid Disorders [2, 3, 6]
Twenty to forty percent of children with DS can have thyroid
abnormalities such as congenital hypothyroidism (1.8–3.6 %),
autoimmune thyroiditis (0.3–1.4 %), Graves disease (2.5 %)
and compensated hypothyroidism (25.3–32.9 %). Thyroid
function tests are recommended twice in the first year and then
once a year. Presence of hypothyroidism requires long term
replacement with L-thyroxine with frequent blood monitoring.
Epilepsy
The reported prevalence of epilepsy in Down syndrome is 1–
13 % with infantile spasms (IS) or West syndrome (WS) being
more common than the general population and requires stan-
dard treatment.
Fertility
Individuals with Down syndrome have similar onset of pu-
berty like typically developed adolescents but have reduced
fertility. Most females are able to maintain menstrual hygiene.
In the presence of severe retardation, medically induced amen-
orrhea or in rare circumstances hysterectomy may be an
option. Most males are infertile.
Musculoskeletal Problems
About 10–30 % of children with DS have atlantoaxial insta-
bility, which may be symptomatic in 1–2 % [15]. There is no
evidence of benefit for routine cervical spine X-rays in asymp-
tomatic children with DS due to lack of predictability and
assurance with plain X-rays. These children, however, should
avoid football, gymnastics, and trampoline as the risk for
spinal cord injury is increased with these games [2]. A detailed
neurological evaluation and cervical spine X-rays in neutral,
flexion and extension are needed in the presence of danger
signs such as neck pain, torticollis, radicular pain, frequent
falls, change in bowel or bladder function and signs of mye-
lopathy like spasticity or change in tone and hyperreflexia etc.
and require early surgical intervention [2].
Indian J Pediatr (June 2014) 81(6):560–567
Hemato-oncological Problems [2, 6]
Children with Down syndrome have increased prevalence of
iron deficiency anemia and are at an increased risk of devel-
oping acute leukemia. About 1 in 100 children with Down
syndrome are at risk of developing acute lymphocytic and
acute non-lymphocytic leukemia. It is recommended to do a
complete blood count in first 3 mo and then yearly. Treatment
for leukemia remains the same.
Treatment
Till date there is no cure for the Down syndrome, however,
these children can live a healthy, happy and relatively inde-
pendent life by using following measures-
1. Initiation of early stimulation or intervention to improve
their overall developmental skills
2. Providing good home environment and parental care
3. Formation of education and parental support groups for
sharing their experiences
4. Availability of appropriate, timely and specialised medi-
cal care through all ages
The improvement in the developmental status and behavior
is highly dependent upon the associated co-morbidities, so-
cioeconomic status, home environment and the education
level of the parents.
Early Stimulation or Intervention
Early stimulation therapy and behavioral intervention remains
the cornerstone of management for children with Down syn-
drome and improves the long term outcome. The aim is to
involve parents in effectively teaching the relevant skills in
different areas of development to individualize the training
program, to identify and manage the specific deficit in the
behavior and to maximize self help skills and enhance inde-
pendence. It promotes the overall development of children
during the early years. These programs include speech thera-
py, physiotherapy, and occupational therapy. Physicians, care
providers and the parents should follow a realistic but opti-
mistic approach. In authors’ experience (unpublished), the
earlier we initiate the stimulation therapy; the better would
be the developmental quotients (DQ). An early intervention
program is not only helpful in reduction of further costs of
rehabilitation and special schools but it also reduces the pa-
rental stress and frustration. These interventions are also help-
ful in decreasing the behavioral problems. It also provides a
chance to meet other parents coping with similar situations,
and share experiences. Most of these children are able to attain
daily skills such as feeding, washing, dressing, and toileting.
They gradually learn to talk, read and write. They attain
Indian J Pediatr (June 2014) 81(6):560–567
appropriate social skills; learn self discipline and self regula-
tion with proper training. Early and appropriate intervention,
friendly environment, positive and encouraging parental or
caretaker attitude builds their confidence.
Education and Opportunities
Most of the children with Down syndrome are educated in the
normal school till the age of 6 y. However, individual needs
would vary. Children with border line intelligence, enter into
integrated schools after 6 y of age, whereas children with mild
and moderate IQ need to go to the special schools having
special educators. After a smooth transition into adolescence,
depending upon their mental abilities, they can be involved in
part time jobs in employment centres. Their skills can be
improved by providing appropriate occupational and vocation-
al therapy. High functioning adolescents and adults can suc-
cessfully engage themselves in various hobbies, recreational
activities and sports. Even in India, several non-government
organizations for these children and adults have been extreme-
ly helpful in providing various types of vocational therapies.
This provides them an opportunity to live a life of self depen-
dence without any social embarrassment. As they grow older,
it helps in improving their social relationships and further
builds their confidence. In general, most of the DS individuals
can lead semi independent but happy, useful and creative life.
The Role of Dietary Supplements and Drugs in Cognitive
Improvement
Several therapeutic dietary supplements are prescribed to im-
prove the cognition in children with Down syndrome; how-
ever there is no scientific evidence that any combination of
drugs, vitamins and minerals enhances either cognitive func-
tion or psychomotor development in people with Down syn-
drome [16]. Several drugs such as Donepezil, a reversible
Table 2 Distribution of chromo-
somal abnormalities in Down Type of chromosomal
syndrome and associated recur- abnormality
rence risks [20, 22, 23]
Trisomy 21
Unbalanced Robertsonian
translocation
Mosaicism
565
inhibitor of acetylcholinesterase [17], and rivastigmine [18]
have been studied for their safety and effectiveness on cogni-
tion and language performance in children and adolescents
with Down syndrome. Both these drugs, though well tolerat-
ed, did not have an effect on cognition. Large randomized
studies with a longer follow up would be needed to study its
effect in children with Down syndrome [19].
Genetic Counseling for Down Syndrome
Genetic counseling is basically an art of providing information
about a particular genetic condition to the concerned family in
a nondirective, truthful and empathetic manner, to promote
their understanding about that problem, to facilitate accep-
tance and making the best possible adjustments to the disor-
der, to choose a course of action which seems to them appro-
priate in view of their risk, and their ethical and religious
standards, and to act in accordance with their decision.
Delivering the News to the Parents [20]
National Society of Genetic Counselors (NSGC) provides
good practice guidelines for communicating a prenatal or
postnatal diagnosis of Down syndrome. These guidelines
recommend that
& A physician (pediatricians and /or obstetricians) knowl-
edgeable about Down syndrome, having the expertise in
providing support and appropriate guidance for these fam-
ilies should first deliver the news to the mother.
& Most parents prefer that the information regarding their
child’s condition (even if not confirmed by karyotype)
should be conveyed to them as soon as possible. Precise
timing of disclosure also depends upon the maternal
condition.
Frequency Recurrence risk in future pregnancies for “at risk”
couples
95 % Low (overall 1 %)
For mother <35 y; age related risk×3.5
For mother ≥35 y; age related risk×1.7
3–4 % (2/3rd de novo; For de novo translocation- low (overall 1 %);
1/3rd inherited) similar to trisomy 21
For familial translocation
aÞ tð13; 21Þ=ð14; 21Þ=ð15; 21Þ=ð21; 22Þ
≈ 10 − 15 % for female carriers
≈ 1 − 2:5 % for male carriers
bÞ tð21; 21Þ
100 % for both male and female carriers
1–2 % Low (overall 1 %); similar to trisomy 21
566
& As far as possible, both partners should be informed
together in the presence of their infant. Privacy should
be maintained while disclosing information. If required,
parents should be offered a private place to talk
uninterrupted after disclosure of the diagnosis.
& Counseling should be provided in the local language, in a
supportive, sensitive, caring, and well controlled manner
through multiple counseling sessions. The information
given to them should start with positive words, and must
be balanced with the happiness of being blessed with a
baby as most mothers tend to remember the first words of
a physician.
& Parents should be given accurate and latest information.
Counseling should be realistic, practical and should include
the challenges involved in the care of children with Down
syndrome. It is always beneficial to offer access to other
similar families and provide them information about the
parent support groups and a list of latest resource books.
Essential Points for Discussion During the Initial Counseling
Session [20, 21]
It is beneficial to assess the parents’ prior knowledge about
Down syndrome before initiating further discussions. The
amount of information provided to a specific family would
vary depending upon the setting, previous experiences with
the disorder or type of information obtained from any other
resources such as internet, laymen persons and other health
professionals. Providing loose information about the develop-
ment of these children can be disastrous, hence extreme care
should be taken for smooth transition into parenthood while
revealing the diagnosis during early infancy. The initial infor-
mation should incorporate the following -
& What is Down syndrome and how can one confirm the
diagnosis?
& The variable level of intelligence in otherwise happy, and
loving children
& Information about the most common medical conditions
for a particular age such as cardiac defects, hypothyroid-
ism, hearing and visual problems for children less than 5 y
& Long term benefits of early intervention, appropriate oc-
cupational, vocational therapy, good home environment
and commitment from parents
& Education and opportunities
– Depending upon their IQ level, these children can
either go to an integrated school or a special school
– Can participate in various social, physical activities
depending upon their mental ability
– If trained properly, they can be involved in part time
jobs in employment centres, can have friends and
social relationships and live a semi-independent life
Indian J Pediatr (June 2014) 81(6):560–567
– Information about early intervention centres, special
schools, integrated schools, parents support groups, orga-
nizations and printed latest resources
& Similar daily needs, immunization schedules as for the
typically developing children
& Important Information about available therapies such as
speech therapy, physiotherapy and occupational therapy
should be provided.
& Life expectancy
& Recurrence risk for future pregnancies, for that particular
family depending upon the chromosomal abnormality
should be offered.
Recurrence risks in future pregnancies depend upon the
maternal age and the chromosomal type of Down syndrome
(Table 2). In trisomy 21 and mosaicism, the overall recurrence
risk is <1 %. The majority of the translocation Down syn-
dromes occur de novo, the overall recurrence risk is <1 %,
whereas for inherited translocations, the recurrence risk is
increased depending upon the type of translocation and the
sex of the carrier parent.
Conclusions
Till date, no magic bullet has been developed to improve the
cognition in these children, but an effective early stimulation
therapy, behavioral intervention, positive home environment,
education and vocational training of children with Down syn-
drome are helpful in improving the overall functioning and
productivity of these children. Timely monitoring and early
recognition of medical problems can decrease the overall mor-
bidity and results in better outcomes. Good counseling skills are
required for delivering the news to the parents. Accurate and
latest information must be provided in a supportive and empa-
thetic manner.
Acknowledgments The authors thank Dr Shubha Phadke, SGPGI,
Lucknow for her invaluable comments. They also thank Dr Savita Sapra,
Child Psychologist, Division of Genetics, AIIMS and Dr Shanti Aulluck,
President and Director, Muskaan, NGO, New Delhi for their inputs.
Conflict of Interest None.
Role of Funding Source None.
References
1. Styles ME, Cole TJ, Dennis J, Preece MA. New cross sectional
stature, weight, and head circumference references for Down’s syn-
drome in the UK and Republic of Ireland. Arch Dis Child. 2002;87:
104–8.
2. Bull MJ. Committee on genetics. Health supervision for children
with Down syndrome. Pediatrics. 2011;128:393–406.
Indian J Pediatr (June 2014) 81(6):560–567
3. Weijerman ME, de Winter JP. Clinical practice. The care of children
with Down syndrome. Eur J Pediatr. 2010;169:1445–52.
4. Carter JC, Capone GT, Gray RM, Cox CS, Kaufmann WE. Autistic-
spectrum disorders in Down syndrome: Further delineation and
distinction from other behavioral abnormalities. Am J Med Genet B
Neuropsychiatr Genet. 2007;144B:87–94.
5. Molloy C, Murray S, Kinsman A, Castillo H, Mitchell T, Hickey FJ,
et al. Differences in the clinical presentation of trisomy 21 with and
without autism. J Intellect Disabil Res. 2009;53:143–51.
6. Hunter AGW. Down syndrome. In: Cassidy SB, Allanson JE,
eds. Management of Genetic Syndromes. 3rd ed. USA: Wiley
Blackwell; 2010.
7. ACOG Committee on Practice Bulletins. ACOG practice bulletin No.
77: Screening for fetal chromosomal abnormalities. Obstet Gynecol.
2007;109:217–27.
8. American College of Obstetricians and Gynecologists. ACOG prac-
tice bulletin No. 88: Invasive prenatal testing for aneuploidy. Obstet
Gynecol. 2007;110:1459–67.
9. Benn P, Borell A, Chiu R, Cuckle H, Dugoff L, Faas B, et al. Position
statement from the Aneuploidy Screening Committee on behalf of
the Board of the International Society for Prenatal Diagnosis. Prenat
Diagn. 2013;33:622–9.
10. Malec E, Mroczek T, Pajak J, Januszewska K, Zdebska E. Results of
surgical treatment of congenital heart defects in children with Down’s
syndrome. Pediatr Cardiol. 1999;20:351–4.
11. Bhatia S, Verma IC, Shrivastava S. Congenital heart disease in Down
syndrome: An echocardiographic study. Indian Pediatr. 1992;29:1113–6.
12. Nahar R, Kotecha U, Puri RD, Pandey RM, Verma IC. Survival
analysis of down syndrome cohort in a tertiary health care center in
India. Indian J Pediatr. 2013;80:118–23.
13. Masuda M, Kado H, Tanoue Y, Fukae K, Onzuka T, Shiokawa Y,
et al. Does Down syndrome affect the long-term results of complete
567
atrioventricular septal defect when the defect is repaired during the
first year of life? Eur J Cardiothorac Surg. 2005;27:405–9.
14. Bhat AS, Chaturvedi MK, Saini S, Bhatnagar S, Gupta N, Sapra S,
et al. Prevalence of celiac disease in Indian children with Down
syndrome and its clinical and laboratory predictors. Indian J Pediatr.
2013;80:114–7.
15. Hankinson TC, Anderson RC. Craniovertebral junction abnormali-
ties in Down syndrome. Neurosurgery. 2010;66:A32–8.
16. Salman M. Systematic review of the effect of therapeutic dietary
supplements and drugs on cognitive function in subjects with Down
syndrome. Eur J Paediatr Neurol. 2002;6:213–9.
17. Kishnani PS, Heller JH, Spiridigliozzi GA, Lott I, Escobar L, Richardson
S, et al. Donepezil for treatment of cognitive dysfunction in children with
Down syndrome aged 10–17. Am J Med Genet A. 2010;152A:3028–35.
18. Heller JH, Spiridigliozzi GA, Crissman BG, McKillop JA, Yamamo-
to H, Kishnani PS. Safety and efficacy of rivastigmine in adolescents
with Down syndrome: Long-term follow-up. J Child Adolesc
Psychopharmacol. 2010;20:517–20.
19. Mohan M, Carpenter PK, Bennett C. Donepezil for dementia in people
with Down syndrome. Cochrane Database Syst Rev. 2009;1:CD007178.
20. Sheets KB, Crissman BG, Feist CD, Sell SL, Johnson LR, Donahue
KC, et al. Practice guidelines for communicating a prenatal or post-
natal diagnosis of Down syndrome: Recommendations of the nation-
al society of genetic counselors. J Genet Couns. 2011;20:432–41.
21. Skotko BG, Capone GT, Kishnani PS. Postnatal diagnosis of down
syndrome: Synthesis of the evidence on how best to deliver the news.
Pediatrics. 2009;124:e751.
22. Gardner RJM, Sutherland GR. Chromosome abnormalities and ge-
netic counseling. 3rd ed. New York: Oxford University Press, Inc;
2004.
23. Harper PS. Practical genetic counselling. 6th ed. London: Edward
Arnold, Ltd; 2004.