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