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SMRUTHI SANATH, MDTITLE: MANAGEMENT OF CHILDREN WITH DOWN SYNDROME Target audience: Child Health staff physicians; all pediatric subspecialists; all
courtesy faculty and referring physicians; pediatric residents, medical students and other professional staff at Children’s Hospital.
Objective: To improve the knowledge of physicians and therefore, their care for
children in rural Missouri, especially those hospitalized or seen at Children’s Hospital. To offer presentations which are clinically applicable but basic science that applies to the most contemporary treatments or illnesses.
Speaker Disclosure: Smruthi Sanatha, MD has no relationship with any commercial firm having products related to topics discussed at this conference. Additionally, as the chairman of this series, Dr. Thomas Loew has no conflict of interest to disclose that would lead to bias in the selection of topics and/or speakers of this series. Actual disclosure forms are available upon request. The Office of Continuing Education, School of Medicine, University of Missouri is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
The Office of Continuing Education, School of Medicine, University of Missouri designates this live educational activity for a maximum of _1_ AMA PRA Category 1 Credit(s)™. Physicians should only claim credit commensurate with the extent of their participation in the activity.
CHILDREN WITH DOWN SYNDROME
Smruthi Sanath, M.D.
Pediatric Resident (PGY-3)
University of Missouri at Columbia
WHAT WILL YOU LEARN FROM THE PRESENTATION ? What is Down syndrome? Characteristics of DS Medical conditions associated with DS Updated health supervision guidelines
from AAP Recognition of co-morbidities that may
be present in DS
WHY IS IT CALLED ? Down syndrome was originally
described in 1866 by John Langdon Down.
Down used the term mongoloid It wasn't until 1959 that a French doctor,
named Jerome Lejeune, discovered it was caused by the inheritance of an extra chromosome 21.
WHAT CAUSES DS?Type Incidence Chromosom
e findingsPhysical features and intellectual disability
Trisomy 21 95% Extra Ch. 21 in every cell
Translocation 4% Extra part of Ch. 21 attached to another Ch. in every cell
Same as Trisomy 21
Mosaicism 1% Mixture of cells – some with extra Ch. 21 and others normal
Milder physical features and intellectual disability
WHO IS AFFECTED BY DS?In U.S. 1 in 691 Live births. Odds of child with DS at age 35 are 1 in 350. Under age 25, the odds are about 1 in 1200. At age 40, the odds are about 1 in 100. But 80% of births to women <35yrs.
Life Expectancy increasing… Average 58.6yrs 25% live to >62yrs Joyce Greenman of London, turned 87 on March 14,
WHO HAS INCREASED RISK OF HAVING A BABY WITH DS? Advanced maternal age Having one child with DS previously Carrying the genetic translocation for
CAN DS BE DIAGNOSED PRENATALLY? First trimester
Early screening: maternal age, Nuchal fold, B-hcg, PAPP-A (sensitivity 82-87%)
Second trimester Quadruple screen: maternal age, B-hcg,
unconjugated estriol, AFP, Inhibin (sens 80%)
Integrated screen Combination of both (sens 95%)
Diagnostic CVS, Amniocentesis
NEW TESTING Maternal T21 1 and 2 trimester (high risk patients) 20 ml maternal blood sample Extracts circulating cell-free fetal (“ccff”)
DNA Converts into a genomic DNA library Uses massively parallel genomic
sequencing Detects T21 sensitivity 99.1%,
specificity 99.9% Also detects T18,T13
COUNSELING PARENTS Talking to parents in person about
concerns Social Support Resources -CDC website (birth defects). National center of medical home
initiatives for children with special needs.
National Down syndrome Society (NDSS)
PRENATAL VISIT Prenatal test results -FISH and full
karyotype. Genetics /recurrence rates “Range of variability”, balanced and
positive outcomes Studies/subspecialty consults Available treatments/interventions Options Availability of genetic counseling.
If they want to continue pregnancy, Plan for delivery/neonatal care:
additional subspecialty care. Parent- to- parent contact, local national
groups. Referral to clinical geneticist. Refer to Maternal Fetal Medicine clinic.
RESOURCES FOR PRENATAL DIAGNOSIS National Down syndrome
DIAGNOSIS Prenatal diagnosis
FISH and full karyotype. obtain copy of the prenatal test results.
Postnatal diagnosis NEW Share as soon as team suspects the
FISH rapid (24-48 hrs) but cannot distinguish
among mosaic, translocation and trisomy 21
WHAT DOES A CHILD WITH DS LOOK LIKE?
Eyes Inner epicanthal folds, Brushfield spots Upward slanting palpebral
Flat appearing, low nasal bridge, small ears Excessive protrusion of tongue
Neck excessive skin at the nape of the
Fingers and Toes single transverse palmar crease,
and short fifth finger with clinodactyly.
Brachydactyly, wide spacing of 1st and 2nd toes.
CVS VSD and endocardial cushion
Absent or diminished Moro reflex, Hypotonia and joint hyperflexibility.
HEART PROBLEMS 40- Structural problems with
formation of the heart (40-50%) CAVC (45%) VSD (35%) PDA (7%) TOF (4%) Other (1%) Every newborn needs echo Monitor symptoms of CHF
(Feeding, tachypnea, poor weight gain)
Increased risk for pulmonary hypertension.
Refer to cardiologist if echo abnormal
FEEDING PROBLEMS NEW Refer to modified barium
study/MBS. Marked hypotonia. Slow feeding Choking with feeds Unexplained FTT Recurrent pneumonia Recurrent or persistent respiratory sx. To begin with they have anatomical
issues -Oral anomalies, tongue protrusion.
From late infancy, children with DS show a relative increase in Mean weight-for-length and weight-for-height
BMI (weight/stature2) Excessive weight is a problem in
adulthood. One study of individuals with Down
syndrome showed Less than 15% were within desirable with
range 20-30% were overweight, and Almost 50% were obese
BREAST FEEDING Breast milk is ideal food for support. Consult lactation support early. Oromotor benefits. Many babies get to breast milk later.
Encourage pumping! Reassure parents. Don’t give up!
GASTROINTESTINAL ISSUESMalformations (12%) Evaluate for duodenal atresia or anorectal
atresia/stenosis by history and exam.GER- If severe or contributing cardiorespiratory
problems or FTT.Constipation- Evaluate for restricted diet/limited fluid
intake, hypotonia, hypothyroidism, GI malformations and Hirschsprung disease (1%).
SENSORY Vision (60%) Cataracts (5%) May progress slowly. Refer to ophthalmologist for
evaluation and treatment.Hearing (75%) Universal Hearing screen
(brainstem auditory evoked potential or otoacoustic emission) at birth.
Follow up completed by 3 months
CARDIORESPIRATORY NEW Car-seat test: For babies with hypotonia or recent cardiac surgery, evaluate in car seat prior to discharge for Apnea Bradycardia O2 desaturation
Stridor Wheezing Noisy breathingIf severe or cardiopulmonary compromise or feeding problems- refer to pulmonologist.
TRANSIENT MYELOPROLIFERATIVE DISEASE
10% of newborns with DS show leukocytosis with presence of blast cells in PBS-Transient Leukemia.
Most children with transient leukemia go into spontaneous remission and recover by 3 months of age. Of those who recover 20% -acute megakaryocytic leukemia (AML )in 4 yrs of age.
Follow up recommended Q 3 months for PBS. Cure rate is more than 80%. If TMD, counsel parents re: risk of leukemia & signs Easy bruising, petechiae, onset of lethargy and
change in feeding pattern. Incidence in DS is 1 %
RESPIRATORY Increase risk for respiratory infections
like RSV. Can see OSA even in infants Screening:
Car seat study to assess for apnea, bradycardia and oxygen desats (h/o cardiac surgery, hypotonia)
Sleep study recommended for all children by age 4 or sooner if symptomatic.
23-valent penumococcal vaccine at >2yrs if chronic respiratory or cardiac issues.
THYROID Congenital Hypothyroidism (1%) Check TSH. Newborn screen may only
include thyroxine (T4) - Many children with DS have mildly elevated TSH and normal T4.
Discuss with endocrinologist.
ANTICIPATORY GUIDANCE-NEWBORN Susceptibility to respiratory tract
infections Cervical spine positioning precautions
(Anesthesia, surgery, radiology) Refer for early intervention. Family support organizations. Individual resources for support (friends,
clergy). Recurrent risk in subsequent pregnancies Complementary and alternative
treatments (safe and dangerous)
HEARING Review serous otitis media (50-70%) Review prior hearing test
(BAER,ABR,OAE) If passed, re-screen at 6 months. If failed, refer to otolaryngologist. If tympanic membrane not visible, refer
(and then follow-up every 3-6 months). Treat middle ear dysfunction promptly
VISION Refer to ophthalmologist by
6 months to evaluate for strabismus, cataracts, nystagmus
Check vision at each visit Lacrimal duct obstruction,
refer for evaluation and surgical repair if not resolved by 9-12 months.
CARDIACMonitor infants with heart defects (VSD or AVSD) with shunting for symptoms of CHF Tachypnea, feeding difficulties, poor weight gain.Nutritional support until surgery(NEW) If large VSD without obstruction to pulmonary blood flow, repair by 4 months of age to prevent pulmonary HTN.There is risk for pulmonary HTN even without cardiac defects.
ANEMIA Incidence is 3% Hemoglobin by age 1, then annually. Children with DS have lower dietary iron
than peers. MCV is elevated. Serum ferritin and CRP or reticulocyte
count should be checked for kids with low iron intake.
OTHER CONCERNS Growth monitor for weight, weight/height or
BMI (NEW) Don’t use Down syndrome charts DS charts are currently being revised.
Cervical spine instability Signs of myelopathy, careful exam and
history. Discuss maintaining neutral spine for procedures.
OSA: Discuss symptoms and refer to specialist if symptoms are present
Monitor for infantile spasms (1-13%)
Check TSH at 6 months,1 year
Immunizations -Age based and Influenza vaccination for the year
ANTICIPATORY GUIDANCE 1-12 MONTHS Support groups Assess emotional status of parents,
intrafamilial relationships, educate/support siblings. Review early intervention Discuss recurrence and prenatal testing
at least once in first year.
1-5YRS OF AGE
HEARING Review risk of hearing loss (30-50% age
3-5) Behavioral audiometry & tympanometry
every 6 months until ear-specific normal hearing.
Annual hearing test Alternatively, BAER or OAE Refer to otolaryngology if hearing loss
VISION Check at every visit. Annual ophthalmology
evaluation 50% chance of refractive
errors leading to amblyopia between age 3-5
ATLANTOAXIAL INSTABILITY Incidence 1-2% Discuss at least every 2 yrs
C-spine positioning for anesthetic, surgical, radiographic procedure.
Careful history and physical
SYMPTOMATIC CHILDSymptoms parents should seek urgent medical attention Change in gait or use of arms or hands Change in bladder or bowel function Neck pain, stiff neck, head tilt, torticollis,
change in head position Change in general function WeaknessLateral x-ray in neutral only (NEW). if abnormal – urgent referral to neurosurgery or
orthopedic surgery If normal – flexion/extension films, prompt
ASYMPTOMATIC CHILD X-rays do not predict risk or reassurance -
Routine x-rays NOT recommended (NEW) Participation in some sports increases risk -
football, soccer, diving, gymnastics (older kids)
Special Olympics may still require films.
OSA Incidence (50-75%) Symptoms -Heavy breathing, snoring,
restless sleep, uncommon sleep positions, frequent night awakening, daytime sleepiness, apneic pauses, behavior problems.
BUT poor correlation parent report with OSA.
(NEW) Sleep study for all kids with DS by age 4.
Refer to specialist. Discuss obesity as the risk factor.
CELIAC DISEASE Incidence 5% Symptoms -Diarrhea, protracted
constipation, slow growth , FTT, anemia, abdominal pain or bloating or refractory developmental or behavioral problems.
If symptoms present, check tissue transglutaminase IgA and total IgA.
If abnormal, refer to gastroenterologist. No evidence to support screen if
OTHER CONCERNS TSH annually Cardiology: follow up after repair. Neurology: monitor for seizures. Anemia: Check hemoglobin annually. Ferritin and CRP if risk for iron deficiency.
ANTICIPATORY GUIDANCE 1-5 YRS Early intervention (OT, PT, Speech) Transition to preschool Behavior or social progress. Refer if suspicion for autism, ADHD or other
psychiatric or behavioral problem. Vaccination-PCV 23 at 2 yrs or older if
chronic cardiac or pulmonary disease. Reassure regarding delayed dental and
irregular dental eruption. Encourage and model accurate terms for
genitalia and respect for body parts Counsel re: increased risk of sexual
PSYCHOSOCIAL CONCERNS Sibling adjustment, behavioral
management. Socialization, recreational skills Child’s education program -Learning
OTHER CONSIDERATIONS Review family dietary habits and
physical activity pattern. Obesity -Snacks and Television
watching. SSI and Medicaid benefits. Investigate trust and guardian
arrangements. ARC (Association of retarded citizens)-
financial and custody arrangements.
5-13 YEARS Review symptoms related to celiac
disease. Cervical spine: review precautions.
Instruct family to call immediately if new symptoms of myelopathy.
C-spine and sports: Counsel on increased risk with some sports.
Dry skin: sign of hypothyroidism. Discuss symptoms of OSA. Refer if signs
or symptoms are present. Discuss obesity as a risk factor
ANTICIPATORY GUIDANCE 5-13YRS Review development, appropriateness
of school placement. Discuss socialization, family status and
relationships, including financial arrangements, health insurance and guardianship.
Discuss development of age appropriate social skills, self help skills and development of a sense of responsibility.
ANTICIPATORY GUIDANCE 5-13YRS Behavior problems that interfere with
function at home, school and community
Attention problems ADD/ADHD OCD Non compliant behavior Wandering off
Behavioral Intervention Community treatment program Psychosocial services consult Behavioral specialists -may be more
sensitive to medications. Improve or maximize expressive
Transition to middle school. Independence with hygiene, discuss and
model privacy, management of sexual behaviors.
Pubertal changes, fertility, contraception (depot provera)
Gynecologic care, birth control, STDs
AGE 13-21 Annual Hemoglobin. Annual TSH Ear specific audiology Check for celiac disease symptoms. OSA symptoms, refer if needed C-spine
Symptoms and precautionsSports
AGE 13-21 Eyes- Ophthalmology every 3 yrs
(cataracts, refractive errors, keratoconus which can cause blurred vision, corneal thinning, corneal haze)
Cardiac follow up. If new murmur or gallop or increased fatigue, SOB ( at rest or with exertion), get an echo to evaluate valves.
ANTICIPATORY GUIDANCE AGE 13-21 Transition issues (guardianship, long term
financial planning, adult morbidities) Growth: BMI, healthy diet, exercise Behavioral and social issues: refer if
chronic problem or acute deterioration School
placement, transition planning, vocational training.
Fertility: Discuss recurrence with females Gynecologic care
Personal care: Self-care, hygiene, sexual development, STDs ,contraception.
Living arrangements: group homes, independent living, workshops, community supported employment.
Family arrangements: Financial planning, guardianship
Transition to adult medical care.
MISSOURI SUPPORT ORGANIZATIONS www.stlouischildrens.org/our-services/do
wn-syndrome-center/support-groups www.kcdsg.org/community_groups.php www.connectmidmissouri.com/news/stor
National down syndrome congress www.ndsccenter.org National down syndrome society www.ndss.org www.care.com Medical home -Accessible, continuous,
compassionate, family centered, coordinated, compassionate, culturally effective care.
Effect and efficacy in treating with Donezepil hydrochloride for cognitive dysfunction
Vitamin E in aging persons with DS.