Born this Way: Health Supervision for Children with Down Sy - PowerPoint Presentation

Slide1

Born this Way: Health Supervision for Children with Down Syndrome

Melissa Eldridge, MD PGY-3

University of South Carolina School of Medicine

Columbia, SC

August 19, 2016Slide2

Disclosures

No financial disclosures. Slide3

Learning Objectives

Define Down Syndrome

Review historical background

Understand the genetic basis of Down Syndrome

Discuss features and traits of children with Down Syndrome

Major Complications associated with

D

own Syndrome

Review

AAP Health Supervision Guidelines

Discuss resources for families and patientsSlide4

A 2-year-old girl with Down Syndrome presents to your office for her routine well child examination. She has been growing and developing appropriately. Her diet consists of a variety of fruits, vegetables and meats. Denies any fatigue, pallor, constipation, diarrhea or rash. On physical examination, the patient is well appearing and there are no abnormalities. Of the following, what is most appropriate screening labs?

Hemoglobin level and TSH level

Hemoglobin level

TTG and IgA level to screen for Celiac Disease, TSH level, hemoglobin level

TSH level

No screening labs necessarySlide5

A 3 week-old male with mosaic type Down Syndrome is presenting to your office for his first examination. He was born at 38 weeks via SVD without complications. His newborn screens were normal. On exam, mild hypotonia, 2/6 systolic murmur best heard on the left sternal border, hepatomegaly and a vesiculopustluar rash. The rest of the exam is normal. You obtain a routine CBC and the results are the following: WBC 36 Hbg 11.6 MCV 116 PLT 69 PMN 50

Lymphs15 Mono 3 Basophil 1 Eosinophil 0 Blasts 10

The

MOST

likely diagnosis:

Acute

myelobastic

leukemia

Idiopathic thrombocytopenia purpura

Leukemoid

reaction

Transient myeloproliferative disorder

Acute lymphoblastic leukemiaSlide6

13 y.o. female with Down Syndrome who is entering the eighth grade and wants to be on the cheerleading team. Her mother brings her to the office because of concerns about her playing sports and for pre-participation sports physical. No murmur is heard on exam and her neurological exam is completely normal. What is the most appropriate management for this patient?

Order Echocardiogram prior to clearance

Obtain a cervical spine x-ray to evaluate for

atlantoaxial

instability

Clear her for participation in all sports

Recommend switching to a lower impact sport, like track

Tell them it does not matter because cheerleading is not a real sportSlide7

4 yo child with Down Syndrome with seasonal allergies who has developed intermittent snoring at night. There is no history of daytime sleepiness, apneic episodes, restless sleeping or change in behavior. What is the best next step in management?

Start

Flonase

and monitor for 3-4 weeks for improvement

Obtain a polysomnography

Refer to a sleep specialist

Observe because it is not causing daytime time symptomsSlide8

Down Syndrome

A condition caused by having an

extra copy of the 21

st

chromosome that is characterized by a variety of distinct facial features, congenital malformations and other developmental disorders

Occurs in 1 in

700

births

Most common chromosomal disorder

Most common cause of genetic intellectual disabilitySlide9

Historical Background

In

1866

, John Langdon Down,

an English physician, published

an accurate description of a

person with Down syndrome

In 1959, the French physician

Jérôme

 Lejeune identified Down syndrome as a chromosomal condition

In the year 2000, an international team of scientists successfully identified and catalogued each of the approximately 329 genes on the 21

st

chromosomeSlide10

1.

Trisomy 21

Most common, >95%

Caused by sporadic nondisjunction

All cells contain 3 copies of chromosome 21

2

. Mosaic Down Syndrome

1% of patients

Caused by nondisjunction

A portion of cells contain 3 copies of chromosome 21, while others have 2 copies

3

.Translocation Down Syndrome

3-4 % of patients

Unbalanced translocation between chromosome 21 and an areocentric chromosome usually 14

Total of 46 chromosomes but extra portion of chromosome 21

3 Major Causes of Down Syndrome

Slide11

Nondisjunction

MosaicismSlide12

Is it inherited

?

Translocation is the

only

form that can be passed from parent to child

If the

father

is the carrier, the risk is about

3 percent

If the

mother

is the carrier, the risk is between

10 and 15 percentSlide13

Risk Factors

Robertsonian

Translocation carrier

Previous child with Down Syndrome

Recurrence rate increase by 1 %

Advanced maternal Age

Due to higher birth rates in younger women,

80% of children with Down Syndrome are

born to women under 35 years of age

At age 35 the incidence is 1 in 350 birth,

and incidence rises with each yearSlide14
Slide15

Common Physical Features

Generalized

Hypotonia

Flat facial profile/nasal bridge

Up slanting palpebral fissures

Epicanthic folds

Brushfield

spots

Low set small ears

Protruding tongue

Excessive skin at the nape of the neck

Short broad hands

Transverse palmer crease

Space between first and second toesSlide16

Major Complications

Cardiac

Complete AV septal defect, VSD, ASD, Tetralogy of

Fallot

Gastrointestinal

Duodenal atresia

Celiac disease

Constipation

Endocrinology

Thyroid disease

Dysmetabolic

Syndrome

Obesity and short stature

Ophthalmologic

Refractive errors

Cataracts

Pulmonary

Sleep apnea

Frequent respiratory infections

ENT

Hearing loss

Recurrent acute otitis media

Sinusitis

Hematologic

Transient myeloproliferative disease

AML/ALL

Anemia

Musculoskeletal

Atlantoaxial instability

Arthropathy

Integumentary

Palmoplantar hyperkeratosis

Seborrheic dermatitis

Eczema

Neurologic

Intellectual disability and Autism Spectrum Disorder

Alzheimer/Dementia

Epilepsy Slide17

Life spans have increased dramatically

In 1929, a baby often didn’t live to

age 10

Today, many as 80% of adults with Down Syndrome reach

age 60Slide18
Slide19

Slide20

Overview of the Health Supervision for Down Syndrome Patients

The Prenatal Visit

Birth to 1 month: Newborn Infants

1 month to 1 year: Infancy

1 to 5 years: Early Childhood

5 to 13 years: Late Childhood

13 to 21 years or older: Adolescence to Early AdulthoodSlide21

Prenatal

Visit

ACOG recommends all pregnan

t

women, regardless of age should be offered the option of diagnostic testing

Screening

1

st

Trimester : maternal age, nuchal translucency,

b-

hcg

and PAPP-A

2

nd

Trimester : quad screen

Maternal-Fetal DNA testingSlide22

Health Supervision from Birth to 1 Month: Newborn Infants

Physical Exam -the

most sensitive test

in the first 24 hours of life to diagnose Trisomy 21

Studies to confirm diagnosis

Chromosomal karyotype

FISH study

Only limitation is that it cannot detect translocations

Most importantly is to provide education, discuss parental concerns and refer for genetic counselingSlide23

Health Supervision from Birth to 1 Month: Newborn Infants

Evaluate for:

Cardiac defects with Echocardiogram

All

infants regardless of fetal echo

Cataracts with red reflex

Apnea/bradycardia

Needs

carseat

test prior to discharge

Congenital hearing loss:

Auditory brainstem response or

otoacoustic

emission

in the nursery. If abnormal, needs follow up by 3 months

Upper airway anomalies

Feeding abnormalities

GI Abnormalities: duodenal atresia or anorectal stenosis, GERD, constipation,

Hirschsprung

Disease

Pelvic dysplasia Slide24
Slide25
Slide26

Duodenal Atresia Hirschsprung DiseaseSlide27

Health Supervision from Birth to 1 Month: Newborn Infants

Evaluate for:

Hematologic abnormalities

Obtain CBC w/differential

Polycythemia,

macrocytosis

and

thrombocytopenia

Transient myeloproliferative disease

Occurs in 10%

Spontaneously regresses by 3 months

Increased risk of leukemia (10-30%)

Congenital Hypothyroidism

Screen with newborn screen testing TSHSlide28

Anticipatory Guidance: Newborn

Respiratory tract infections

Increased risk of hospitalization with RSV

5.5

times more likely to

requir

e

respiratory supportAverage 4 day stayReview

Synagis

prophylaxis

Discuss importance of cervical spine positioning

Refer for Early Intervention and local Down Syndrome parent group or family support, i.e. Family Connections or Down Syndrome ClinicSlide29

Health Supervision from 1 Month to 1 Year

Growth and Development

Hearing

Sleep abnormalities

Eye abnormalities

Cardiac disease

Hematologic abnormalities

Neurological symptoms

ImmunizationsSlide30

Down Syndrome Growing Up StudySlide31

Updated Growth Charts

http://www.cdc.gov/ncbddd/birthdefects/downsyndrome/growth-charts

“These charts can help healthcare providers monitor growth among children with Down syndrome and assess how well a child with Down syndrome is growing when compared to peers with Down syndrome.”

Slide32

Developmental Milestones Slide33

Health Supervision from 1 Month to 1 Year

Hearing Screen

Repeat at 6 months

Treat middle-ear disease

If failed screen or unable to view tympanic membranes, refer to ENT

Referral to pediatric ophthalmologist by 6 months

Verify newborn TSH level

Repeat at 6 months, 12 months and then annuallySlide34

Health Supervision from 1 Month to 1 Year

Discuss symptoms of obstructive sleep apnea

Hemoglobin level starting at 1 year

MCV is elevated in 45% of DS

Evaluate for neurological dysfunction

Infantile spasms (1%-13%)

Moyamoya

disease

Immunizations

Routine Vaccines Slide35

Health Supervision from 1 Month to 1 Year

Anticipatory Guidance

Support Groups, family dynamics, focusing on the strengths of the child and answering questions

Early intervention: Individualized Family Service Plan Slide36

Health Supervision from 1 to 5 Years

Annual examinations

Hemoglobin level

Thyroid function test (TSH)

Hearing exam

Vision exam with pediatric ophthalmologist

50% risk of refractive errors between 3 and 5 years of age

Review symptoms of OSA

Evaluate for neck abnormalities

GI symptoms

TTG for celiac only if symptomatic

Vaccines:

If chronic cardiac or pulmonary disease, 23-valent pneumococcal vaccine at 2 years of ageSlide37

Obstructive Sleep ApneaWhat we know: Nearly 70% of DS children have OSAIncrease risk due to craniofacial abnormalitiesSnoring, daytime sleepiness, behavior problemsAll children should have a polysomnography by the age of 4 years old

Continue to monitor for symptoms

Adenoid and tonsillectomy is the treatment of choice

50% have persistent OSA requiring CPAP and tracheostomy

Alternative therapy

Hypoglossal Nerve Stimulator Slide38

Health Supervision from 1 to 5 Years

Anticipatory Guidance

Transition Early intervention to Individualized Education Plan

Irregular dental eruption

ADHD and Autism

Obesity prevention

Sexual exploitation

Cervical spine positions precautions during proceduresSlide39

Atlantoaxial Instability Increased mobility at the articulation of the first cervical jointLateral neck films in neutral, flexion and extension-Reliable for children >3 years old

-

No

routine screening in asymptomatic children

-Abnormal findings is an anterior

atlanto

-odontoid distance (AAOD) > 3mm change

15% will have AAI

1% are symptomaticReferral to pediatric neurosurgeon or orthopedic surgeonSlide40

Health Supervision from 5 to 13 YearsAnnual evaluation

TSH level

Hemoglobin level

Audiology exam

Pulmonary symptoms

Symptoms of celiac disease

Sports safety

Obesity prevention

Cardiology follow up if appropriate

Dermatological change

Biannual

O

phthalmology examSlide41

Common Dermatological Findings

Eczema

Cutis

marmorata

Palmoplanter

hyperkatosis

Seborrhea

Fissured tongueSlide42

Health Supervision from 5 to 13 YearsAnticipatory guidance

Development and appropriate intervention

Socialization and self-help skills

Behavior problems

ADHD, Autism, OCD, wandering off, psychiatric disorders

Evaluate for underlying medical problems

Computer safety

Pubertal Development

Sexual exploitation

Fertility and contraception

Gynecologic careSlide43

Health Supervision from 13 to 21 YearsSame health care management as previous years

except:

Ophthalmological evaluation every 3 years

Annual examination for acquired valvular disease

Anticipatory Guidance:

Transition to adulthood and adult medical care

School placement

Pregnancy

Encourage independenceSlide44

Future Research Evaluating the change in cardiac diseasePredicting neurological deterioration Effective treatments of OSA for persistent symptomsSpecific early intervention for children with Down SyndromeGene therapy Slide45
Slide46

Remember…Families cannot do this alone and neither can you!Utilize the subspecialists and local services!Identify a Down Syndrome Clinic in your region!Slide47

A 2-year-old girl with Down Syndrome presents to your office for her routine well child examination. She has been growing and developing appropriately. Her diet consists of a variety of fruits, vegetables and meats. Denies any fatigue, pallor, constipation, diarrhea or rash. On physical examination, the patient is well appearing and there are no abnormalities. Of the following, what is most appropriate screening labs?

Hemoglobin level and TSH level

Hemoglobin level

TTG and IgA level to screen for Celiac Disease, TSH level, hemoglobin level

TSH level

No screening labs necessarySlide48

A 3 week-old male with mosaic type Down Syndrome is presenting to your office for his first examination. He was born at 38 weeks via SVD without complications. His newborn screens were normal. On exam, mild hypotonia, 2/6 systolic murmur best heard on the left sternal border, hepatomegaly and a vesiculopustluar rash. The rest of the exam is normal. You obtain a routine CBC and the results are the following:

WBC 36

Hbg

11.6 MCV 116 PLT 69 PMN 50

Lymphs15 Mono 3

Basophil

1

Eosinophil

0 Blasts 10The MOST likely diagnosis:

Acute

myelobastic

leukemia

Idiopathic thrombocytopenia purpura

Leukemoid

reaction

Transient myeloproliferative disorder

Acute lymphoblastic leukemiaSlide49

13 y.o. female with Down Syndrome who is entering the eighth grade and wants to be on the cheerleading team. Her mother brings her to the office because of concerns about her playing sports and for pre-participation sports physical. No murmur is heard on exam and her neurological exam is completely normal. What is the most appropriate management for this patient?

Order Echocardiogram prior to clearance

Obtain a cervical spine x-ray to evaluate for

atlantoaxial

instability

Clear her for participation in all sports

Recommend switching to a lower impact sport, like track

Tell them it does not matter because cheerleading is not a real sportSlide50

4 yo child with Down Syndrome with seasonal allergies who has developed intermittent snoring at night. There is no history of daytime sleepiness, apneic episodes, restless sleeping or change in behavior. What is the best next step in management?

Start

Flonase

and monitor for 3-4 weeks for improvement

Obtain a

polysomnography

Refer to a sleep specialist

Observe because it is not causing daytime time symptomsSlide51

Down Syndrome ClinicLocated at Palmetto Health Children’s Hospital Outpatient Center , 14 Medical Park, 434-6155.Clinic operates on the second Tuesday of every month.For infants and young adults (through age 21).Down Syndrome Clinic PartnersPalmetto Health Children’s HospitalChildren’s Hospital Outpatient Clinic

USC School of Medicine, Department of Pediatrics

Family Connection of South Carolina

Palmetto Heath Children’s Hospital Outpatient Physical and

Specialty TherapySlide52

Down Syndrome ClinicMission StatementChildren with Down Syndrome are children first, each with a unique personality and individual strengths. The Down Syndrome team is committed to working with you and your private physician to help your child reach his or her full potential and function as independently as possible in all aspects of family, school and community. Slide53

Down Syndrome ClinicA unique service at a single location that offers multidisciplinary and comprehensive services.PediatricianGeneticistNutritionistPhysical TherapySpeech Therapy

Occupational Therapy

Social Work

InterpreterSlide54

Down Syndrome ClinicFamily Connection of South CarolinaState Parent to Parent network for families who have a child with disabilities.Family Connection will provide a parent coordinator in the clinic with a role of providing emotional support as well as informational support about activities to involve families with other families. Slide55

Down Syndrome ClinicReferrals from Primary MD Midlands and BeyondFour patients are scheduled per clinic45 minutes allotted with pediatrician357 patients2 month waiting listTo make a referral, please call 434-6155Tori Pearson, RN – Down Syndrome CoordinatorSlide56

ReferencesBull, Marilyn J, et. Al. Health Supervision for Children With Down Syndrome. J Pediatric. 2011; 112(2):393-406Centers for Disease Control and Prevention, National Center for Health Statistics. Growth charts. Available at: www.cdc.gov/growthcharts.

Dixon N,

Kishnani

PS, Zimmerman S. Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome. Am J Med Genet Part C

Semin

Med Genet. 2006;142C(3):149–157

Fitzgerald DA, Paul A, Richmond C. Severity of obstructive apnea in children with Down syndrome who snore. Arch Dis Child. 2007;92(5):423–425

McDowell KM, Craven DI. Pulmonary complications of Down syndrome during childhood. J

Pediatr. 2011;158(2):319–325Shott SR. Down syndrome: common otolaryngologic

manifestations. Am J Med Genet C

Semin

Med Genet. 2006;142C(3):131–140

Morton R, Khan C, Murray-Leslie C, Elliott S. Atlantoaxial instability in Down's syndrome: a five year follow-up study. Arch Dis Child. 1995;72(2):115–119Van Cleve S, Cannon S, Cohen W. Part II: clinical practice guidelines for adolescents and young adults with Down syndrome: 12 to 21 years. J Pediatr Health Care. 2006;20(3):198–205Slide57

QUESTIONS