health care requirements for individuals with down syndrome terrance d. wardinsky, md medical...
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Health Care Requirements for Individuals With Down Syndrome
Terrance D. Wardinsky, MDMedical Director
Alta California Regional Center
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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
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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
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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
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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
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Karyotype of Down Syndrome
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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
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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
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Associated System Findings with Down Syndrome
Hearing loss Hypothyroidism Visual compromise Obstructive sleep apnea Recurrent infection Congenital heart disease
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Down Syndrome
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Down Syndrome
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Down Syndrome
Brushfield Spots Transverse Palmer
Crease
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Down Syndrome
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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
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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
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Respiratory
Pulmonary vascular resistance Respiratory upper & lower
infection Acute & chronic airway obstruction Sleep apnea Cor pulmonale Flu and pneumovax vaccines
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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)
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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
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Genitourinary Concerns
UP junction obstruction Hydronephrosis Alteration in structure & maturation
of kidneys High serum urea/creatinine/uric acid Hypospadius Undescended teste
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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
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Immunologic
Upper & lower respiratory infections
T & B lymphocyte function Autoimmunity
Thyroiditis, alopecia areata, arthritis, inflammatory bowel disease, diabetes
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Ocular
Cataracts 3% Glaucoma Strabismus Nasolacrimal obstruction Blepharitis Keratoconus Refraction abnormalities
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Ear, Nose & Throat
Small ear canals Undeveloped ear ossicles Sinusitis & rhinitis Obstructive sleep apnea Hearing loss Tonsillectomy
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Oral & Dental
Morphology of teeth Hypoplasia, aplasia Malocclusion Tongue prominence & fissuring Macroglossia
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Symptoms of Obstructive Apnea Snoring Unusual sleep routines Daytime fatigue Profuse sweating Behavior disturbances
Treatment includes T&A, uvulopalatoplasty, or CPAP
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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
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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
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Avoid Contact Sports
Tumbling Diving Butterfly stroke Football Soccer Rugby Certain warming-up exercises
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Infant Programs
Physical therapy & occupational therapy services are included in most early intervention programs for positioning, feeding, & motor strength exercises to support hypotonia.
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Dermatology
Cutis marmorata Skin dryness & folliculitis Recurrent skin infection Alopecia areata Sweat gland benign tumors;
syringomas Seborrhea
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Endocrine
Short stature Hypothyroidism Sexual maturity Menstruation Diabetes mellitus (1.4 – 10.6%) Growth hormone
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Gynecology
Pap smears in sexually active Non-sexually active bimanual
exams Screening abdominal ultrasounds Mammograms
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Reproduction
Male sterility Female fertility Gynecological reproductive health
clinics Birth control Sterilization
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Neurologic
Hypotonia Seizures Senile plaques & neurofibrillary
tangles Alzheimer’s Disease
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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
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Language
Expressive vs. receptive Underestimation of abilities Total communication Continued acquisition of skills
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Developmental
EI Programs ADHD Autistic Spectrum Disorder Alzheimer dementia
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Psychiatric: Adolescents & Adults 20-25% Depression & grief Mania Anxiety disorder Adjustment disorder Conduct disorder Obsessions & compulsions Schizophrenia
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Golden Rule
Rule out medical or dental health reason that may be confused as a mental illness and/or Alzheimer’s disease
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Medical Evaluations with Mental Status Change
Anemia: FE / B12 / Folic Acid /CBC Thyroid: T4 / TSH PICA: Pb (lead) Lytes & glucose: Ca, Lytes, Chem
Panels
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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
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Medical Evaluations (cont.)
Reflux: ESR, CBC, UGI & GI consult Metabolic: Chem panels, liver,
renal, glucose, lytes Medication: Check dose & levels Psychiatric: Depression, PTSD
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4 S’s for Alzheimer Safety
Falls, wandering, bedsores Stability
Of the environment Social supports Symptom treatment
Incontinence, C1-C2, sleep, seizures, medication
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Alternative / Complementary Therapies
Glutamic acid Dimethyl sulfoxide Sicca cell U-series 5-hydroxytryptophan Nutritional supplements
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Alternative / Complementary Therapies (Cont.)
Megavitamins Piracetam Facilitated communication Patterning: Doman-Delacato Plastic Surgery