Down's syndrome, trisomy 21

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Down's syndrome, trisomy 21

  1. 1. DOWN SYNDROME Dr Varsha Atul Shah
  2. 2. DOWN SYNDROME• I. “Definitions”• II. Principle Features in Newborns• III. Abnormalities• IV. Age Specific Healthcare Guidelines
  3. 3. DOWN SYNDROME; “Definitions”• Incidence: 1:660 • Etiology: Trisomy for newborns all or a large part of• “The most common Chromosome 21 pattern of • Full 21 = 94% malformation in man” • Mosaicism = 2.4% • Translocation = 3.3% (D/G or G/G)
  4. 4. DOWN SYNDROME; Maternal Age• Faulty chromosome • 15-29 yrs 1:1500 distribution leading to • 30-34 yrs 1:800 Down Syndrome is • 35-39 yrs 1:270 more likely to occur at • 40-44 yrs 1:100 older maternal age. • >45 yrs 1:50
  5. 5. DOWN SYNDROME: Principle Features in Newborns• Hall found at least • Hypotonia (80%) four of these • Poor Moro (85%) abnormalities in all • Hyperflexible joints newborns with Down (80%) Syndrome. • XS skin back of neck• Slanted palpebral (80%) fissures(80%) • Flat facial profile• Anomalous auricles (90%) (60%)
  6. 6. DOWN SYNDROME: Features in Newborns (2)• Dysplasia of pelvis (70%)• Dysplasia of midphalanx of fifth finger (60%)• Simean crease (45%)
  7. 7. DOWN SYNDROME; Abnormalities• General• Hypotonia• Tendency to keep mouth open and protrude tongue• Diastasis recti• Hyperflexible joints• Small stature
  8. 8. DOWN SYNDROME: Abnormalities• CNS: Mental deficiency, seizures (5-10%),ADHD, autism, dementia• Craniofacial: Brachycephaly, flat occiput, mild microcephaly, upslanting palpebral fissures, late closure of fontanels, hypo- to aplasia of frontal sinuses, short hard palate, small nose, low nasal bridge, inner epicanthal folds
  9. 9. DOWN SYNDROME: Abnormalities• Eyes: Brushfield’s spots (speckling of iris) with peripheral hypoplasia of iris, fine lens opacities (59%), myopia (35-40%, hyperopia (20-25%), strabismus (23-44%),keratoconus (5-8%), blephoritis (50% over lifetime), cataracts, nystagmus
  10. 10. DOWN SYNDROME: Abnormalities• EARS: • Middle ear problems• Small (fluid and recurrent• Overfolding of otitis media) angulated upper helix • Sensorineural hearing• Small or absent loss earlobes• Small canals
  11. 11. Down syndrome: Abnormalities• CARDIAC (30-60%) • All infants and• AV canal children need to have• ASD an evaluation by a pediatric cardiologist• VSD and ECHO before 3• PDA months of age.• Aberrant subclavian • SBE prophylaxis as artery indicated• Tetrology of Fallot
  12. 12. DOWN SYNDROME; Abnormalities• GASTROINTESTINAL • GU• Duodenal web or atresia • Male: small penis,• Tracheo-esophageal decreased fertility, fistula cryptorchidism (27%),• Hirschprung’s decreased testosterone production• Celiac disease • Female: fertile, 50% of• GERD offspring will have DS,• Ulcers 20-40% of DD women• Constipation sexually abused over lifetime
  13. 13. DOWN SYNDROME; Abnormalities• DIETARY • RECOMMENDATIONS• Obesity • Reduced caloric intake • Increased physical• Increased activity triglycerides • Consider nutritional• Decreased HDL consult earlier rather than cholesterol, later apolipoprotein A1, HDL:TG ratio
  14. 14. DOWN SYNDROME; Abnormalities• ENDOCRINE • HEME• Thyroid Disorders: • Immune function may• Congenital be impaired with hypothyroidism (27X decreased IG2 and general population) IG4 and increased• Hypothyroidism (15%) IG1 and IG3 as well• Hyperthyroidism as cellular immune• Lower incidence of deficits Diabetes Mellitus • Leukemia (1:95)
  15. 15. DOWN SYNDROME: Abnormalities• MUSCULOSKELETAL • Loss of upper body• Atlanto-axial strength, abnormal instability(14%) neurological reflexes,• Risk of spinal cord injury change in (1%) Symptoms include bowel/bladder neck pain, posturing of head, torticollis, change functioning in gait • DDH • Hand/foot deformities
  16. 16. DOWN SYNDROME: ABNORMALITIES• RESPIRATORY• Sinusitis• Pneumonia• Sleep Apnea
  17. 17. DOWN SYNDROME: Abnormalities• SKIN • HAIR AND TEETH• Dry skin(75%) • Fine, soft, sparse hair• Elastosis perforans • Hypoplastic, serpignosa• Loose folds in posterior irregularly placed neck (infancy) teeth, fewer caries• Chelitis• Alopecia areata• Cutis marmorata
  18. 18. DOWN SYNDROMEAGE SPECIFIC HEALTH CAREGUIDELINES (FROM COHEN)
  19. 19. DOWN SYNDROME: NEONATAL• HISTORY • EXAM• Parental concerns • Cardiac• Check for GI problems • Cataracts• Hearing/Vision• • Otitis media Family supports • Fontanelles (think thyroid)
  20. 20. DOWN SYNDROME: NEONATAL• LABS, CONSULTS • Opthalmologist• Chromosomal karyotype • Feeding specialist if• Genetic counseling there are feeding• T4, TSH difficulties (OT, SLP,• Mandatory screening Lactation Nurse)• Pediatric cardiology• ECHO• BAER
  21. 21. DOWN SYNDROME: NEONATAL• DEVELOPMENTAL • OTHER• Discuss Early • Refer to local Down Intervention Syndrome parent• Refer for enrollment in group or PRO local program (Parents Reaching Out) for family support • The Web
  22. 22. DOWN SYNDROME: INFANCY (2-12 MONTHS)• HISTORY • EXAM• Parental concerns • General neurological,• Respiratory infections neuromotor, (especially otitis media) musculoskeletal exam• Constipation (use aggressive dietary • TMs (refer to ENT if measures, consider you cannot see them Hirschprung’s) and are suspicious of• Vision/Hearing otitis)
  23. 23. DOWN SYNDROME: INFANCY• LAB, CONSULTS • BAER or other• If not done as newborn, assessment of hearing by must have pediatric 6 months if not done as cardiology evaluation and newborn. ECHO. Remember, • Pediatric opthalmology patients with VSD or AV evaluation by 6-12 septal defect may quietly months if not done as be developing newborn. progressive pulmonary • ENT for recurrent otitis. hypertension • T4, TSH if not done yet.
  24. 24. DOWN SYNDROME: INFANCY• DEVELOPMENTAL • RECOMMENDATION• Early Intervention S• PT, OT evaluations • Apply for SSI• Developmental • Estate planning assessment • Custody arrangements • Family support • SBE prophylaxis as indicated
  25. 25. DOWN SYNDROME: CHILDHOOD (1-12 YRS)• HISTORY • Ear problems• Parental concerns • Sleep problems• Current level of • Constipation functioning• Current programming (EI, • Obesity 3-4 year old program, • Review audiologic school, special education) and thryoid function• Behavior problems tests • Review opthalmologic and dental care
  26. 26. DOWN SYNDROME: CHILDHOOD• EXAM • EXAM• General pediatric and • Eye exams every 2 years neurologic exam. if normal, more often if• LABS, CONSULTS abnormal• T4,TSH yearly • Lateral C-spine films• ECHO if not done (neutral, flexion and extension) at 3 years and• Auditory testing yearly l2 years for atlanto-axial 1-3 yrs, every 2 years instability 3-13 years • Dental at 2 yrs & q6 mo.
  27. 27. DOWN SYNDROME: CHILDHOOD• DEVELOPMENTAL • RECOMMENDATIONS• Enroll in appropriate • Twice daily tooth educational program brushing• Yearly IFSP 0-3 yrs, IEP • Caloric intake below RDA 4-21 yrs. • Monitor diet, high fiber• SLP evaluation • Exercise• Consider augmentive • OT, PT, SLP as needed communication device as • SBE prophylaxis as indicated needed
  28. 28. DOWN SYNDROME: CHILDHOOD• RECOMMENDATIONS • Reinforce the• Monitor family needs for importance of good respite care, supportive self-care skills counselling, behavior (grooming, dressing, management techniques money management• Consider pneumovax and annual flu vaccines skills)
  29. 29. DOWN SYNDROME: ADOLESCENCE (12-18 YEARS)• HISTORY • EXAM• Interval medical history • General physical and• Sleep apnea neurological exam (r/• Vision/Hearing o atlanto-axial• Behavioral problems dislocation• Address sexuality issues • Obesity • Pelvic if sexually active
  30. 30. DOWN SYNDROME: ADOLESCENCE• LAB, CONSULTS • Consider gynecologist• T4, TSH yearly experienced in• Hearing and Vision every working with special other year needs individuals for• ECHO for individuals pelvic exam for without CHD once in sexually active early adulthood (18-20 teenager years) to rule out valvular disease
  31. 31. DOWN SYNDROME: ADOLESCENCE• RECOMMENDATIONS • Diet and exercise• Begin transition planning program• Dental exams twice • Update estate yearly planning and custody• SSI arrangements• SBE prophylaxis as • Social/recreational needed programs• Annual flu shot • Register to vote and selective service at 18
  32. 32. DOWN SYNDROME: ADOLESCENCE• RECOMMENDATIONS • Smoking, drug,• Discuss plans for alcohol education alternative long term • Health and sex living arrangements education including• Reinforce good self-care skills counselling regarding• Yearly IEP and abuse prevention psychoeducational • Continue SLP evaluations services as needed• Vocational issues
  33. 33. DOWN SYNDROME: ADULT (>18 YEARS)• HISTORY • Incontinence of urine and/• Interval medical history or stool)• Sleep apnea • GERD• Thyroid • Atlanto-axial instability• Monitor for loss of skills, • Obesity behavioral changes, mental health problems, dementia (decline in function memory loss, ataxia, seizures,
  34. 34. DOWN SYNDROME: ADULTS• EXAM • Yearly breast exams• General physical and • Testicular exam for men neurologic exams • Prostate exam for men• Monitor weight• Pap smears for sexually active women every 1-3 years• Pelvic every 3 years for non-sexually active women
  35. 35. DOWN SYNDROME: ADULTS• LAB, CONSULTS • Mammograms yearly• T4, TSH yearly from age 50 years• Eye exam every 2 years • Mammograms yearly• from age 40 years for Auditory testing every 2 women with first degree years relative with breast• Repeat C-spine films cancer once in adulthood • Twice yearly dental• ECHO to rule out valvular exams disease once in early • Mental health referral ? adulthood
  36. 36. DOWN SYNDROME: ADULTS• RECOMMENDATIONS • Update estate planning• SLP as needed • Guardianship issues• Consider augmentive • Social/recreational communication device programs• Vocational issues • Voting, selective service• Discuss plans for • Reinforce self-help skills alternative long term • Bereavement counselling living arrangements when indicated• Discuss advanced directives
  37. 37. DOWN SYNDROME: ADULTS• RECOMMENDATIONS• SBE prophylaxis for patients with cardiac disease• Annual flu shot• Diet and exercise programs
  38. 38. DOWN SYNDROME: ADULTS• PSYCHIATRIC • Consider pain from DISORDERS GERD, dental• First rule out medical abscess, sinusitis, cause for changes in otitis, fracture, behavior, SIB, loss of skills, incontinence, glaucoma change in appetite, • Thyroid weight, sleep or energy • Sleep apnea level, aggressive behavior, crying. • AAI • Polypharmacy
  39. 39. DOWN SYNDROME: ADULTS• PSYCHIATRIC • Depression may be DISORDERS seen in reaction to• Depression: sad, irritable loss: death in the mood, disturbances in family, loss of appetite, sleep, energy, caretaker, roommate. loss of interest in • Psychosis and previously enjoyable schizophrenia activities, skill and uncommon memory loss, self-talk, withdrawal. • OCD • Anxiety disorders
  40. 40. DOWN SYNDROME: ADULTS• PSYCHIATRIC • occupational DISORDERS functioning. It is• Dementia (Alzheimer) progressive and is• A neuro-psychiatric associated with senile syndrome of memory loss plaques and that prevents new neurofibrillary tangles information from being in the brain on learned, decline of postmortem exam. It intellectual skills which results in inability to impairs social and care for oneself and, eventually, death.
  41. 41. DOWN SYNDROME: ADULTS (Patients showing Deterioration by Age Groups) AGE n % <39 0 0 40-49 10 11 50-59 33 80 60-69 20 91 >70 2 100
  42. 42. DOWN SYNDROME: REFERENCES• 1. Cohen, W.I. “Health Care Guidelines for Individuals with Down Syndrome” Down Syndrome Quarterly Vol 1 No 2 . 6-96• 2. Visser, F.E., etal. “Prospective Study of the Prevalence of Alzheimer-Type Dememtia in Institutionalized Individuals with Down Syndrome” AJMR Vol 101, No 4, l997, 400-412.• 3. Caring for Individuals with Down Syndrome and Their Families. Third Ross Roundtable on Critical Issues in Family Medicine. 1994.• 4. Pueschel, S.M. and Sustrova, M. Adolescents with Down Syndrome. Paul H. Brookes Publishing Co., Inc. 1997.• 5. Smith, D.W. Recognizable Patterns of Human Malformation. Third Edition. W.B.Saunders Co. 1982.

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