Good Morning!Morning Report: Tuesday, March 13th

Health Supervision of Children with Down

Syndrome

IntroductionDue to the presence of extra genetic material from chromosome 21, children with Down Syndrome have:

Multiple malformations

Medical conditions

Cognitive impairment

*Physical Findings

Hypotonia

*Physical Findings

Upward-slanting palpebral fissures,

epicanthal folds, flat

nasal bridge

Brushfield spots Clinodactyly/ short

5th digit

Deep plantar groove

Single transverse palmar crease

Small ears, excessive

skin at the nape of the

neck

*Medical Conditions

Cognitive Impairment

Degree is variable

Mild (IQ 50-70)

Moderate (IQ 35-50)

Severe (IQ 20-35)

Only occasional

GeneticsIn 95%, the condition is sporadic

In 3-4%, the condition results from an unbalanced translocation

75% of these translocations are de novo

25% result from familial translocations

1-2% are mosaic (mix of normal cells and cells with Trisomy 21)

The Prenatal Visit

TestingFirst Trimester (82-87%)

Maternal age

Nuchal translucency US

Β-hCG

PAPP-A

Second Trimester (80%)

Β-hCG

Unconjugated estriol

AFP

Inhibin levels

Topics to DiscussPrenatal labs that lead to diagnosis and any fetal imaging studies that have been or will be performed

Mechanism of occurrence

Phenotypic manifestations and prognosis

Wide variability

Available treatments and interventions

Offer genetic counseling

If pregnancy is continued: plan for delivery/ neonatal care, support organizations, genetics referral

Birth to 1 Month: Newborns

History and PEHistory

Family Hx

Previous children with Trisomy 21

Developmental differences

Pregnancies that ended in miscarriage

Prenatal information

Prenatal chromosomes?

PE

Most sensitive test in the first 24h of life to diagnose trisomy 21

EvaluationConfirm the diagnosis

FISH

Chromosome analysis

ALL newborns should have:

Echo

Confirmed red reflexes bilaterally

Hearing screen (OAE or BAER)

Car seat test

CBC

TSH

EvaluationAlso look for symptoms and signs of the following and evaluate on a case-by-case basis:

Feeding problems

Duodenal atresia or anorectal atresia/ stenosis

Constipation

GER

Stridor, wheezing or noisy breathing

Renal or urinary tract anomolies

Anticipatory Guidance

Increased susceptibility to respiratory tract infxn

Synagis?

C-spine positioning precautions

Efficacy of early intervention (referral as appropriate)

Support services

Both individual and family

Recurrence risk

Treatments that are considered complementary and alternative

1 Month to 1 Year: Infants

Physical ExamGrowth parameters

Use regular growth curves

Serous OM

Signs of CHF in patients with cardiac defects

Myelopathic signs

Evaluations/ Referrals

Hearing screen at 6 mo

Referral to ENT with any abnormal results

Pediatric ophthalmology referral within the first 6 mos

Strabismus, cataracts, nystagmus

Repeat TSH @ 6 and 12 mos then annually

HgB @ 12 mos then annually

Ferritin/ CRP if at increased risk of low iron

Anticipatory Guidance

C-spine positioning precautions

Review connection to early intervention services

Review support services

Assess family emotional status

Review family’s understanding of recurrence risk

Discuss and answer questions about complementary or alternative treatments

1 to 5 Years: Young Children

Evaluation Growth parameters, developmental/ behavioral status

Hearing screen

Q6 mos until normal hearing levels established then annually thereafter

Annual ophthalmology evaluation

50% risk of refractive errors amblyopia b/t 3-5 yo

Annual TSH, HgB (ferritin/CRP)

EvaluationScreen for/ discuss symptoms related to celiac disease, OSA, myelopathy

Sleep study by age 4

Maintain follow-up with cardiologist

23-valent pneumococcal vaccine at 2 years old or older

*Spotlight on Atlantoaxial Instability

Asymptomatic children

No routine radiologic evaluation

Symptomatic children

Plain c-spine films in the neutral position

Flexion and extension films (if films in in the neutral position are normal)

Prompt referral!

*Participation in some sports (football/ soccer/ gymnastics) places children at higher risk of spinal injury

Anticipatory Guidance

Review early intervention

At 30 mo visit, address transition to preschool

Discuss behavioral and social progress

Irregular dental eruption patterns are common

Encourage and model use of accurate terms for genitalia and private body parts

Risk of sexual exploitation

Anticipatory Guidance

Encourage families to establish optimal dietary and physical exercise patterns that will prevent obesity

5-13 Years: Older Children

Evaluation Growth parameters (BMI), developmental/ behavioral status

Annual

Hearing screen

TSH

HgB (ferritin/CRP)

Ophthalmology evaluation every 2 years

Screen for/ discuss symptoms related to celiac disease, OSA, myelopathy

Anticipatory Guidance

Encourage the development of age-appropriate social and self-help skills along with a development of a sense of responsibility

Continue to monitor for behavior problems

Discuss the progression of physical and psychosocial changes through puberty

Fertility and contraception

13-21 Years: Adolescents and Early Adults

Evaluation Growth parameters (BMI), developmental/ behavioral status

Annual

Hearing screen

TSH

HgB (ferritin/CRP)

Ophthalmology evaluation every 3 years

Screen for/ discuss symptoms related to celiac disease, OSA, myelopathy

Examine for acquired aortic and mitral valvular disease

Anticipatory Guidance

Discuss issues related to transition into adulthood

Guardianship

Long-term financial planning

Appropriateness of school placement

Vocational training?

Group homes and independent living opportunities

Risk of premature aging and Alzheimer disease

Anticipatory Guidance

Recurrence risk of DS if a female patient were to get pregnant

Assess, monitor and encourage independence with hygiene and self-care

Recommendations for routine gynecologic care

Thanks for your attention!

Noon conference: Tax Seminar with Physicians Resource Group (LUNCH PROVIDED!!)