Presentation on theme: "SMRUTHI SANATH, MD TITLE: MANAGEMENT OF Children with down syndrome"— Presentation transcript:
1 SMRUTHI SANATH, MD TITLE: 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.
2 Management of children with Down syndrome Smruthi Sanath, M.D.Pediatric Resident (PGY-3)University of Missouri at Columbia
3 What will you learn from the presentation ? What is Down syndrome?Characteristics of DSMedical conditions associated with DSUpdated health supervision guidelines from AAPRecognition of co-morbidities that may be present in DS
4 Why is it called ?Down syndrome was originally described in by John Langdon Down.Down used the term mongoloidIt wasn't until 1959 that a French doctor, named Jerome Lejeune, discovered it was caused by the inheritance of an extra chromosome 21.
5 What causes DS? Type Incidence Chromosome findings Physical features and intellectual disabilityTrisomy 2195%Extra Ch. 21 in every cellCommon formTranslocation4%Extra part of Ch. 21 attached to another Ch. in every cellSame as Trisomy 21Mosaicism1%Mixture of cells – some with extra Ch. 21 and others normalMilder physical features and intellectual disability
6 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 58.6yrs25% live to >62yrsJoyce Greenman of London, turned 87 on March 14, 2012,
7 Who has increased risk of having a baby with DS? Advanced maternal ageHaving one child with DS previouslyCarrying the genetic translocation for DS
8 Can DS be diagnosed prenatally? First trimesterEarly screening: maternal age, Nuchal fold, B-hcg, PAPP-A (sensitivity 82-87%)Second trimesterQuadruple screen: maternal age, B-hcg, unconjugated estriol, AFP, Inhibin (sens 80%)Integrated screenCombination of both (sens 95%)DiagnosticCVS, Amniocentesis
9 New testing Maternal T21 1 and 2 trimester (high risk patients) 20 ml maternal blood sampleExtracts circulating cell-free fetal (“ccff”) DNAConverts into a genomic DNA libraryUses massively parallel genomic sequencingDetects T21 sensitivity 99.1%, specificity 99.9%Also detects T18,T13
10 Counseling parents Talking to parents in person about concerns Social SupportResources -CDC website (birth defects).National center of medical home initiatives for children with special needs.National Down syndrome Society (NDSS)
11 Prenatal visit Prenatal test results -FISH and full karyotype. Genetics /recurrence rates“Range of variability”, balanced and positive outcomesStudies/subspecialty consultsAvailable treatments/interventionsOptionsAvailability of genetic counseling.
12 Cont. 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.
13 Resources for Prenatal diagnosis National Down syndrome society -www.ndss.org.
14 Diagnosis Prenatal diagnosis Postnatal diagnosis NEW FISH FISH and full karyotype.obtain copy of the prenatal test results.Postnatal diagnosis NEWShare as soon as team suspects the diagnosis.Karyotype only.FISHrapid (24-48 hrs) but cannot distinguish among mosaic, translocation and trisomy 21
16 What does a child with DS look like? HeadbrachycephalyEyesInner epicanthal folds,Brushfield spotsUpward slanting palpebral fissuresFaceFlat appearing,low nasal bridge,small earsExcessive protrusion of tongueNeckexcessive skin at the nape of the neck,short neck
17 Cont. Fingers and Toes CVS CNS single transverse palmar crease, and short fifth finger with clinodactyly.Brachydactyly, wide spacing of 1st and 2nd toes.CVSVSD and endocardial cushion defects.CNSAbsent or diminished Moro reflex, Hypotonia and joint hyperflexibility.
18 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 echoMonitor symptoms of CHF (Feeding, tachypnea, poor weight gain)Increased risk for pulmonary hypertension.Refer to cardiologist if echo abnormal
19 Feeding problems NEW Refer to modified barium study/MBS. Marked hypotonia.Slow feedingChoking with feedsUnexplained FTTRecurrent pneumoniaRecurrent or persistent respiratory sx.To begin with they have anatomical issues - Oral anomalies, tongue protrusion.
20 GROWTH ISSUESFrom late infancy, children with DS show a relative increase in Mean weight-for- length and weight-for-heightBMI (weight/stature2)Excessive weight is a problem in adulthood.One study of individuals with Down syndrome showedLess than 15% were within desirable with range20-30% were overweight, andAlmost 50% were obese
21 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!
22 Gastrointestinal Issues Malformations (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%).
23 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
24 CardiorespiratoryNEW Car-seat test: For babies with hypotonia or recent cardiac surgery, evaluate in car seat prior to discharge forApneaBradycardiaO2 desaturationStridorWheezingNoisy breathingIf severe or cardiopulmonary compromise or feeding problems- refer to pulmonologist.
25 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 & signsEasy bruising, petechiae, onset of lethargy and change in feeding pattern. Incidence in DS is 1 %
26 Respiratory Increase risk for respiratory infections like RSV. Can see OSA even in infantsScreening: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.
27 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.
28 Anticipatory guidance-Newborn Susceptibility to respiratory tract infectionsCervical spine positioning precautions (Anesthesia, surgery, radiology)Refer for early intervention.Family support organizations.Individual resources for support (friends, clergy).Recurrent risk in subsequent pregnanciesComplementary and alternative treatments (safe and dangerous)
29 1-12 months 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
30 VisionRefer to ophthalmologist by 6 months to evaluate for strabismus, cataracts, nystagmusCheck vision at each visitLacrimal duct obstruction, refer for evaluation and surgical repair if not resolved by months.
31 CardiacMonitor infants with heart defects (VSD or AVSD) with shunting for symptoms of CHFTachypnea,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.
32 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.
33 Other concerns Growth monitor for weight, weight/height or BMI (NEW) Don’t use Down syndrome chartsDS charts are currently being revised.Cervical spine instabilitySigns of myelopathy, careful exam and history. Discuss maintaining neutral spine for procedures.OSA: Discuss symptoms and refer to specialist if symptoms are present
34 Cont. Monitor for infantile spasms (1-13%) Check TSH at 6 months,1 yearImmunizations -Age based and Influenza vaccination for the year
35 Anticipatory guidance 1-12 months Support groupsAssess emotional status of parents, intrafamilial relationships,educate/support siblings.Review early interventionDiscuss recurrence and prenatal testing at least once in first year.
37 Hearing Review risk of hearing loss (30-50% age 3-5) Behavioral audiometry & tympanometry every 6 months until ear-specific normal hearing.Annual hearing testAlternatively, BAER or OAERefer to otolaryngology if hearing loss
38 Vision Check at every visit. Annual ophthalmology evaluation 50% chance of refractive errors leading to amblyopia between age 3-5
39 Atlantoaxial instability Incidence 1-2%Discuss at least every 2 yrsC-spine positioning for anesthetic, surgical, radiographic procedure.Careful history and physical
40 Symptomatic childSymptoms parents should seek urgent medical attentionChange in gait or use of arms or handsChange in bladder or bowel functionNeck pain, stiff neck, head tilt, torticollis, change in head positionChange in general functionWeaknessLateral x-ray in neutral only (NEW).if abnormal – urgent referral to neurosurgery or orthopedic surgeryIf normal – flexion/extension films, prompt referral
41 Asymptomatic childX-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.
42 OSAIncidence (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.
43 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 asymptomatic.
44 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.
45 Anticipatory Guidance 1-5 yrs Early intervention (OT, PT, Speech)Transition to preschoolBehavior 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 partsCounsel re: increased risk of sexual exploitation.
47 Other considerationsReview 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.
49 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
50 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.
51 Anticipatory guidance 5-13yrs Behavior problems that interfere with function at home, school and communityAttention problemsADD/ADHDOCDNon compliant behaviorWandering off
52 Cont. Behavioral Intervention Community treatment program Psychosocial services consultBehavioral specialists -may be more sensitive to medications.Improve or maximize expressive language
53 Cont. 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
54 Age 13-21 Annual Hemoglobin. Annual TSH Ear specific audiology Check for celiac disease symptoms.OSA symptoms, refer if neededC-spineSymptoms and precautionsSports
55 Age 13-21Eyes- 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.
56 Anticipatory guidance age 13-21 Transition issues (guardianship, long term financial planning, adult morbidities)Growth: BMI, healthy diet, exerciseBehavioral and social issues: refer if chronic problem or acute deteriorationSchoolplacement,transition planning,vocational training.Fertility: Discuss recurrence with femalesGynecologic care
57 Cont.Personal care: Self-care, hygiene, sexual development, STDs ,contraception.Living arrangements: group homes, independent living, workshops, community supported employment.Family arrangements: Financial planning, guardianshipTransition to adult medical care.
58 Missouri support organizations syndrome-center/support-groupspx?id=749947
59 Resources National down syndrome congress www.ndsccenter.org National down syndrome societyMedical home -Accessible, continuous, compassionate, family centered, coordinated, compassionate, culturally effective care.
60 Clinical Trials: Effect and efficacy in treating with Donezepil hydrochloride for cognitive dysfunction Vitamin E in aging persons with DS.