Siegfried Pueschel, MD, PhD, JD, MPH Professor of Pediatrics Brown University Providence, Rhode Island, USA
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1 Siegfried Pueschel, MD, PhD, JD, MPH Professor of Pediatrics Brown University Providence, Rhode Island, USA
2 Previous Guidelines DSMIG: Health Care Guidelines For Individuals With Down Syndrome: 1999 Revision Edited by William I. Cohen, M.D. AAP: Health Supervision for Children with Down Syndrome (2001) AAP Committee on Genetics Drs. Marilyn Bull and Nancy Roizen provided DSMIG input (limited consultative role)
3 Initial Diagnosis in Neonates For those with Prenatal Diagnosis confirm diagnosis and review chromosome results Physical Exam: most sensitive for diagnosis in first 24 hours of life Initial: FISH/Rapid Chromosomes to make diagnosis Follow up with Complete Chromosome Analysis to detect possible Robertsonian translocations
4 Delivering the Diagnosis to parents for whom the diagnosis is unanticipated Allow mother to recover from immediate delivery Partner or support person present Private Setting Inform parents of suspicion re: DS diagnosis immediately Ideal to have delivering MD and PCP for infant both present for discussion/coordinate message Recommend offer private hospital room pending diagnosis
5 Delivering the Diagnosis: Info for parents Balanced approach to information Offer Printed info Offer access to other families with children with DS and/or DS support organizations Clinician should be aware of realities and possibilities for healthy, productive lives of individuals with DS in society
6 Delivering Diagnosis: Follow Up Confirm Lab diagnosis Review karyotype with parents when it is available Discuss specific findings/potential clinical manifestations Refer for genetic counseling (if not done prenatally) Inpatient MD: assure smooth transition to Primary Care Provider
7 Feeding Indications for swallowing assessment: Marked hypotonia Slow feeding Choking with feeds Recurrent pneumonia Other recurrent or persistent respiratory symptoms Unexplained Failure to Thrive (FTT)
8 Feeding Nursing: Is usually possible, and many infants with DS can breastfeed successfully May need early supplementation Young infant may need to be awakened to feed
9 Growth New: Discontinue use of DS-specific growth charts Use NCHS or WHO growth charts Include use of weight/length or BMI Monitor growth, especially BMI: emphasis on healthy diet and lifestyle to prevent obesity
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12 Endocrine Newborn: Obtain TSH if Newborn State Screen (NBSS) measures only FT4 Verify NBSS results Continue to screen at 6 and 12 months, then annually with TSH (sooner if symptoms of concern for thyroid dysfunction)
13 Audiology Follow universal newborn hearing screening guidelines (Otoacustic emission) Complete any needed follow up by age 3 months Failed screen: refer to otolaryngologist comfortable examining infants with stenotic external canals Further guidance regarding management given
14 Audiology Pass newborn hearing screen: Rescreen age 6 months Behavioral audiogram (BA) age 1 year May need sedated BAER if unable to obtain Age 1-21 years: BA and tympanogram every 6 months until bilateral normal hearing established by earspecific testing, then annually
15 Ophthalmology Birth: evaluate for cataracts by looking for red reflex If red reflex absent, need prompt evaluation /treatment with ophthalmologist with expertise managing children with DS Unchanged: refer all for ophthalmology evaluation within first 6 months New: If nasolacrimal duct obstruction present: refer if not resolved by 9-12 months of age
16 Ophthalmology evaluation: Recommendations by age for children without identified eye condition or vision concerns yo every 2 yr annual 5-13 yo annual every 2 yr yo annual every 3 yr* (*specific guidance re: conditions to monitor provided)
17 Airway Age 1-21: Discuss symptoms of OSA at each WCC visit Heavy breathing, snoring, uncommon sleep positions, frequent night awakening, daytime sleepiness, apneic pauses, behavior problems If symptoms present or abnormal sleep study: refer to physician with expertise in pediatric sleep Recommend sleep study/polysomnogram for all children with DS by age 4 yr Discuss obesity as risk factor for OSA
18 Gastrointestinal Birth to 1 mo: Evaluate for duodenal atresia and anorectal atresia/stenosis by history and clinical exam Assess for GERD: Generally diagnose/manage clinically If severe, or contributing to cardiorespiratory problems or FTT refer to subspecialist
19 Gastrointestinal: Celiac Age 1-21: If on gluten-containing diet, each WCC visit review for potentially related symptoms: Diarrhea Constipation: protracted, severe, or unresponsive to medical management Slow growth Unexplained FTT Anemia Abdominal pain or bloating Refractory developmental or behavioral problems
20 Gastrointestinal: Celiac Age 1-21 (continued): If symptoms present,obtain simultaneous: Tissue Transglutaminase IgA Quantitative IgA If labs abnormal: refer for subspecialty assessment If labs normal, but if persistant symptoms: Neither data nor consensus re: further testing No evidence for routine screening of asymptomatic individuals
21 Hematologic Newborn: obtain CBC (not new) More specific info provided regarding Transient Myeloproliferative Disorder (TMD)/leukemoid reaction Management of TMD or polycythemia per subspecialty guidance Counsel parents of infants with TMD regarding increased risk for leukemia and symptoms of concern
22 Hematologic Age 1-21: Hemoglobin age 1 and annually Also at annual visits, if increased risk identified for iron deficiency based on history of decreased iron intake: Obtain serum ferritin and CRP or reticulocyte hemoglobin concentrations
23 Renal One report noted reported increased risk for renal and urinary tract anomalies Suggestion in literature for screening in all with DS Guidelines suggest need to confirm this finding and document improved outcomes related to screening Routine screening not recommended at this time
24 Immunization Routine immunization at WCC unless specific contraindications Influenza vaccine annually Children with comorbid qualifying conditions who qualify should have RSV prophylaxis Children with chronic cardiac or pulmonary disease: 23-valent pneumococcal polysaccharide vaccine (PPS23) at 2 years or older
25 Cardiac New guidance regarding monitoring of infants with cardiac defects: Monitor for symptoms/signs of congestive heart failure, particularly those with lesions causing L->R shunt (VSD, AVC): Tachypnea Feeding difficulties Poor weight gain May need medical management, nutrition support pending repair Recommendation for repair of large VSDs without obstruction to pulmonary blood flow before age 4 months Reminder of increased risk for pulmonary hypertension in DS even in absence of structural heart disease
26 Cardiac Recommendation for continued cardiology monitoring of patients with structural heart disease, even after complete repair
27 Cardiac In adolescents and young adults: If history of structural heart disease, cardiac follow up to be individualized, based on history Examine all patients annually for acquired mitral and aortic valvular disease Obtain echocardiogram if: History: increasing fatigue, shortness of breath, or exertional dyspnea Exam: abnormal findings such as new murmur or gallop
28 Neurologic At all ages: monitor for signs of neurologic dysfunction Increased risk for seizures (1-13%), including infantile spasms Increased risk for other neurologic conditions, including Moyamoya disease
29 Atlantoaxial instability: Monitoring for concerns Careful history/pe with attention to myelopathic signs/symptoms: Each WCC visit Whenever symptoms possibly attributable to spinal cord impingement present
30 Atlantoaxial instability: Monitoring for concerns Instruct parents to contact physician for: Change in gait or use of arms or hands Change in bowel or bladder function Neck pain, stiff neck, head tilt, torticollis, or how child positions his/her head Change in general function New weakness
31 Atlantoaxial instability: Care of the symptomatic child If symptoms of myelopathy present, obtain plain lateral neck radiograph in neutral position only If normal: may obtain flexion/extension radiographs prior to prompt referral If abnormal: no further imaging: refer ASAP to pediatric neurosurgeon or pediatric orthopedic surgeon with expertise in managing atlantoaxial instability
32 Atlantoaxial instability: Screening Major Change: routine screening of asymptomatic individuals is no longer recommended Plain radiographs don t predict well who is at risk of developing symptomatic AAI Normal plain film does not rule out later risk
33 Atlantoaxial instability: Guidance regarding sports participation Some sports place children at risk of increased spinal cord injury: including contact sports of football and soccer and gymnastics (usually at older ages) Trampoline should be avoided by all children (with or without DS) younger than 6 years and by older children unless under direct professional supervision
34 Behavior Review child s behavior and social progress at every visit Monitor for: Concerns for autism Symptoms of ADHD Obsessive-compulsive behaviors Other behavior problems interfering with functioning (including non-compliant behavior and wandering off) Other psychiatric disorders
35 Behavior Medication: Should be discussed between PCP and specialists involved in care Children with DS may be more sensitive to certain medications or differ in response to medications
36 Sexuality At least once between 1 and 5 years of age: Educate parents about increased risk of sexual exploitation Remind parents that perpetrators are more likely to be individuals that child knows and trusts, not strangers
37 Complementary and Alternative Medicine PCP should be prepared to discuss CAM treatments at every visit and assist with information on which are safe, and which are potentially dangerous References to articles that evaluate legitimacy of claims provided
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