Health Care Requirements for Individuals With Down Syndrome

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Health Care Requirements for Individuals With
Down Syndrome

• Terrance D. Wardinsky, MD
• Medical 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 351/300 Age40 1/100Age 451/25
  Age50 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 _at_ Birth
• Celiac IgA antimycelial antibodies _at_ 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
• Meckels 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 WBCs, 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 TA, 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
• Alzheimers Disease

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Alzheimers 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
  Alzheimers 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 Ss 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