Health Care Requirements for Individuals With Down Syndrome

Terrance D. Wardinsky, MDMedical Director

Alta California Regional Center

Dr. John Langdon Down Superintendent of

Earlswood Asylum for Idiots, Surrey (1858-68)

“Ethnic” classification of congenital idiocy: Mongolism

Distinguished from cretinism (hypothyroidism)

“Down Syndrome” since 1961

History John Landon Down 1866 Institutionalization 1st half of 20th century Eugenics movement 1950 National Association for Retarded

Children (ARC) 1960 JFK 1973 National Down Syndrome Congress 1979 National Down Syndrome Society Public Education Laws 1975 to Present

General incidence 1/800 365,000 people with DS in USA Bimodal incidence Advancing maternal age with

increase of incidenceAge 35:1/300 Age:40 1/100Age 45:1/25 Age:50 1/10

Down Syndrome 96% Nondysjunction 2-3% Translocation 1% Mosaicism ALWAYS OBTAIN A KARYOTYPE Many genes identified on chromosome

21 SODI superoxide dismutase,COL6A heart defects, ETS2 skeletal & leukemia, APP amyloid precursor protein and Alzheimer disease

Karyotype of Down Syndrome

Characteristic Features of Down Syndrome

Hypotonia and laxity Hypoplastic midface with

brachycephaly and relative microcephaly

Depressed nasal bridge & epicanthal folds

Small oral cavity with protuberant tongue

Characteristic Features of Down Syndrome

Brushfield spots, strabismus, cataracts

Redundant folds at base of neck Short digits & 5th finger clinodactyly Single Transverse palmer crease &

wide gap between 1st & 2nd toes Cutis mammorata

Associated System Findings with Down Syndrome

Hearing loss Hypothyroidism Visual compromise Obstructive sleep apnea Recurrent infection Congenital heart disease

Down Syndrome

Down Syndrome

Down Syndrome

Brushfield Spots Transverse Palmer

Crease

Down Syndrome

Anticipatory Guidance Eye and Hearing-Annual Dental-Biannual Thyroid-Annual Cardiac echo @ Birth Celiac IgA antimycelial antibodies @ 2

½ Years or with symptoms Plot on DS Growth Grids Subluxation signs and symptoms

Cardiac 40 – 50% CHD Endocardial cushing defects SBE prophylaxis 50+% MVP (mitral valve prolapse)

All infants & children with Down syndrome should undergo evaluation by a pediatric cardiologist including an echocardiogram by 3 months

Respiratory

Pulmonary vascular resistance Respiratory upper & lower

infection Acute & chronic airway obstruction Sleep apnea Cor pulmonale Flu and pneumovax vaccines

Gastrointestinal 5 – 12% with GI obstructive lesions Duodenal atresia most common TE fistula Pyloric stenosis Meckel’s Diverticulum Hirshsprung disease Feeding intolerances GE reflux Constipation Celiac disease (IgA anti-endomysium antibodies)

Feeding Concerns Inefficient suck & low tone Oral-motor coordination Lax muscles, mid-face hypoplasia,

small airway space, tonsillar hypertrophy

10% lower metabolic weight Obesity Feeding & nutritional assessments

Genitourinary Concerns

UP junction obstruction Hydronephrosis Alteration in structure & maturation

of kidneys High serum urea/creatinine/uric acid Hypospadius Undescended teste

Hematology 10% incidence myelo-proliferative

disorder in newborn period. Transitory but may develop into megakaryocytic leukemia.

10-30 fold increase in leukemia ALL & ANLL Macrocytosis, hyposegs of WBC’s,

polycythemia, leukopenia, thrombopenia

Immunologic

Upper & lower respiratory infections

T & B lymphocyte function Autoimmunity

Thyroiditis, alopecia areata, arthritis, inflammatory bowel disease, diabetes

Ocular

Cataracts 3% Glaucoma Strabismus Nasolacrimal obstruction Blepharitis Keratoconus Refraction abnormalities

Ear, Nose & Throat

Small ear canals Undeveloped ear ossicles Sinusitis & rhinitis Obstructive sleep apnea Hearing loss Tonsillectomy

Oral & Dental

Morphology of teeth Hypoplasia, aplasia Malocclusion Tongue prominence & fissuring Macroglossia

Symptoms of Obstructive Apnea Snoring Unusual sleep routines Daytime fatigue Profuse sweating Behavior disturbances

Treatment includes T&A, uvulopalatoplasty, or CPAP

Orthopedic Low muscle tone & laxity of joints Atlantoaxial & atlanto-occipital

subluxations Lateral x-rays of neck & MRIs Subluxation of hips & kneecaps Pronation of feet & flat feet Scoliosis Avoid Trampolines

Symptoms of Spinal Cord Compression

Neck pain Torticollis (neck tilt) Pain of upper extremities Weakness of upper & lower

extremities Back pain or leg radiating pain reflexes & spasticity lower ext. Bowel-bladder dysfunction

Avoid Contact Sports

Tumbling Diving Butterfly stroke Football Soccer Rugby Certain warming-up exercises

Infant Programs

Physical therapy & occupational therapy services are included in most early intervention programs for positioning, feeding, & motor strength exercises to support hypotonia.

Dermatology

Cutis marmorata Skin dryness & folliculitis Recurrent skin infection Alopecia areata Sweat gland benign tumors;

syringomas Seborrhea

Endocrine

Short stature Hypothyroidism Sexual maturity Menstruation Diabetes mellitus (1.4 – 10.6%) Growth hormone

Gynecology

Pap smears in sexually active Non-sexually active bimanual

exams Screening abdominal ultrasounds Mammograms

Reproduction

Male sterility Female fertility Gynecological reproductive health

clinics Birth control Sterilization

Neurologic

Hypotonia Seizures Senile plaques & neurofibrillary

tangles Alzheimer’s Disease

Alzheimer’s DiseaseA diagnosis of exclusion with a progressive functional decline

Loss of self care & job skills Loss of verbal abilities Withdrawal and aggressive behavior Change in sleep patterns Gait apraxia Progressive memory loss Incontinence of bladder and bowel Seizures

Language

Expressive vs. receptive Underestimation of abilities Total communication Continued acquisition of skills

Developmental

EI Programs ADHD Autistic Spectrum Disorder Alzheimer dementia

Psychiatric: Adolescents & Adults 20-25% Depression & grief Mania Anxiety disorder Adjustment disorder Conduct disorder Obsessions & compulsions Schizophrenia

Golden Rule

Rule out medical or dental health reason that may be confused as a mental illness and/or Alzheimer’s disease

Medical Evaluations with Mental Status Change

Anemia: FE / B12 / Folic Acid /CBC Thyroid: T4 / TSH PICA: Pb (lead) Lytes & glucose: Ca, Lytes, Chem

Panels

Medical Evaluations (cont.)

Neuro: MRI, CT, Sleep Study, O2 Sats, R/O subdural, hydrocephaly, seizure, stroke, spinal cord compression, TIE, degenerative changes

Dental: Oral exam with unusual behavior, i.e. hand biting, head rocking, jaw grabbing

Medical Evaluations (cont.)

Reflux: ESR, CBC, UGI & GI consult Metabolic: Chem panels, liver,

renal, glucose, lytes Medication: Check dose & levels Psychiatric: Depression, PTSD

4 S’s for Alzheimer Safety

Falls, wandering, bedsores Stability

Of the environment Social supports Symptom treatment

Incontinence, C1-C2, sleep, seizures, medication

Alternative / Complementary Therapies

Glutamic acid Dimethyl sulfoxide Sicca cell U-series 5-hydroxytryptophan Nutritional supplements

Alternative / Complementary Therapies (Cont.)

Megavitamins Piracetam Facilitated communication Patterning: Doman-Delacato Plastic Surgery