Downs

• 1. DR CH. HAREEN

2. CASE Baby Azma, an 8th mth old female child, a secondproduct of non consanguinous marriage came withcomplaints of Recurrent cold, cough since birth Loose motions since 4 days Rapid breathing since 1 day Maternal history- 2nd gravida, aged 24 yrs.1st child, female 2 yrs, thrivingPositive TORCH screen, details notknown 3. Birth history delivered at term by elective LSCS in view of previousLSCS Baby cried immediately after birth, birth wt- 3.5 kgs Developed icterus on 3rd day of life, found to havehigh TSB (16, INDIRECT COMPONENT 15.2), referredto higher centre for evaluation, neonatologist noticeddysmorphic facies, advised karyotyping. 4. Family history No history of similar complaints/ features in family (evaluated for 3 generations) 5. Developmental milestones Gross motor- Rolling over 7mths (5mths) Sitting without support-not achieved (6) Fine motor- Reaching for objects-6mths (4mths) Thumb finger grasp-not achieved (8mth) Communication & language- social smile- 1mthbabbling- 6mths Cognitive- bangs 2 cubes- not achieved- 8mths 6. Approximately one in 1000 live births. 7. Genetics Trisomy 21 (47, +21), - 94 %, The frequency of trisomyincreases with increasing maternal age. Robertsonian translocation involving chromosome 21-Approx. 3-4 %, not related to maternal age. Trisomy 21 mosaicism 2 to 3 % cases 8. Clinical Features Head and neck Brachycephaly with flat occiput Flat face Up-slanting palpebral fissures Epicanthal folds Three fontanels Delayed fontanel closure- pf not closed completely (2mths) Frontal sinus and midfacial hypoplasia Brushfield spots Mild microcephaly Short hard palate Flat nasal bridge Folded or dysplastic ears Open mouth Protruding tongue Short neck Excessive skin at the nape of neck Small dysplastic ears 9. Extremities Short broad hands Short fifth finger Incurved fifth finger Transverse palmer crease Space between first and second toe Hyper flexibility of joints 10. Neonatal features Flat facial profile Dysplasia of pelvis Poor Moro reflex Anomalous ears Excessive skin at the Dysplasia of nape of neckmidphalanx of fifth Slanted palpebral finger fissures Transverse palmer Hypotonia , dec DTR crease Hyper flexibility of joints 11. Mental Retardation Almost all DS babies have MR. Mildly to moderately retarded . Starts in the first year of life. Average age of sitting(11 mon), and walking (26mon) is twice the typical age. First words at 18 months. IQ declines through the first 10 years of age,reaching a plateau in adolescence that continuesinto adulthood. 12. Heart Disease 50 % of Down Syndrome pts have heart disease Atrioventricular septal defect VSD Secundum ASD PDA Tetrology of Fallot Mitral valve prolapse AR, MR Abarrant subclavian artery Endocarditis Pulmonary hypertension 13. GI abnormalities 5% of cases Duodenal atresia or stenosis, sometimes assocwith annular pancreas in 2.5 % of cases Annular pancreas Imperforate anus Esophageal atresia with TE fistula is less common Hirschsprungs disease Strong assoc with celiac disease b/w 5 16 % , 5 16 fold increase as compared to general population Delayed tooth eruption- 6 to 8 mths 14. Growth BW, length and HC are less in DS Reduced growth rate Prevalence of obesity is greater in DS Weight is less than expected for length in infants withDS, and then increases disproportionally so that theyare obese by age 3-4 yrs 15. MUSCULO SKELETAL Joint hyperflexibility Short neck, redundant skin Short metacarpals and phalanges Short 5th digit and clinodactyly Single transverse palmar creases Wide gap between first and second toes Pelvic dysplasia Short sternum Two sternal/ manubrium ossification centres Atlantoaxial instability Hip dysplasia Slipped capital femoral epiphyses Avascular hip necrosis Recurrent joint dislocations (shoulder, elbow, knee, thumb) 16. NEUROPSYCHIATRIC Hypotonia Developmental delay Seizures Autism spectrum disorders Behavioural disorders Depression Alzheimers disease 17. Eye problems Most common disorders areRefractory error 35 to 76 percentStrabismus 25 to 57 percentNystagmus 18 to 22 percent Cataract occur in 5 % of newborns. Glaucoma Frequency increases with age. 18. Hearing loss Unilateral or bilateral Conductive, sensorineural or mixed Otitis media is a frequent problem 19. Hematologic disorders The risk of leukemia is 1 to 1.5 percent. 65% of newborn have polycythemia resulting inhypoglycemia. Risk of AML and ALL is also much higher than thegeneral population. Transient leukemia exclusively affects NB.- It is asymptomatic with spontaneous resolutionin 2-3 months. - Vesiculopustular skin eruptions are common andresolve with disorder. 20. Endocrine disorder Thyroid disease Hypothyroidism occurs more frequently than hyperthyroidism. Diabetes The risk of type 1 diabetes is three times greater than that of the general population. Infertility Obesity 21. Reproduction Women with DS are fertile and may become pregnant. Nearly all males with DS are infertile. The mechanism is impairment of spermatogenesis 22. Respiratory Obstructive sleep apnea is more common. Frequent infections- sinusitis, nasopharyngitis, pneumonia 23. Skin disorder Palmoplantar hyperkeratosis Seborreic dermatitis Fissured tongue Cutis marmorata Geographical tongue Xerosis Perigenital folliculitis 24. HALL CRITERIA Flat face Upward slanted palpebral fissures Small dysplastic ears Joint hyperflexibility Short neck, redundant skin Short 5th digit with clinodactyly Single transverse palmar crease Pelvic dysplasia hypotonia 25. Diagnosis Prenatal screening- Nuchal translucency (1st trimester)Triple test-70% Quad test-80% FISH- 100% If no screening It is recognized from thecharacteristic phenotypic features. Confirmed by Karyotype. 26. Management1. Growth Measurements should be plotted on the appropriate growth chart for children with DS. This will help in prevention of obesity and early diagnosis of celiac disease and hypothyroidism.2. Cardiac disease All newborns should beevaluated by cardiac ECHO for CHD inconsultation with pediatric cardiologist.3. Hearing Screening to be done in the newbornperiod, every 6 months until 3 yrs of age and thenannually. 27. Management (cont.) 4. Eye disorders - An eye exam should be performed in the newborn period or at least before 6 months of age to detect strabismus, nystagmus, and cataracts. 5. Thyroid Function Should be done in newborn period and should be repeated at six and 12 months , and then annually. 6. Celiac Disease Screening should begin at 2 yrs. Repeat screening if signs/Sx develop. 28. Management ( cont)7. Hematology CBC with differential at birth to evaluate for polycythemia as well as WBC.8. Atlanto-axial instability X ray for evidence of AAI or sub-luxation at 3 to 5 years of age.9. Alzheimers disease Adult with a Down Syndrome has earlier onset of symptoms. When diagnosis is considered, thyroid disease and possible depression should be excluded. 29. MortalityMedian age of death has increased from 25yrs in 1983 to 49 yrs in 1997, an average of 1.7yrs increase per year.Most likely cause of death is CHD, Dementia,Hypothyroidism and Leukemia.Improved survival is because of increasedplacements of infants in homes andchanges in treatment for common causes ofdeath.Survival is better for males and blacks. 30. Counseling May begin when a prenatal diagnosis is made. Discuss the wide range of variability inmanifestation and prognosis. Medical and educational treatments andinterventions should be discussed. Initial referrals for early intervention, informativepublications, parent groups, and advocacy groups.