Panel for Down Syndrome

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Health Care Requirements for Individuals With Down Syndrome: 

Health Care Requirements for Individuals With Down Syndrome Terrance D. Wardinsky, MD Medical Director Alta California Regional Center

Dr. John Langdon Down: 

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: 

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

Slide4: 

General incidence 1/800 365,000 people with DS in USA Bimodal incidence Advancing maternal age with increase of incidence Age 35:1/300 Age:40 1/100 Age 45:1/25 Age:50 1/10

Down Syndrome: 

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: 

Karyotype of Down Syndrome

Characteristic Features 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: 

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: 

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: 

Down Syndrome

Down Syndrome: 

Down Syndrome Brushfield Spots Transverse Palmer Crease

Down Syndrome: 

Down Syndrome

Anticipatory Guidance: 

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: 

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: 

Respiratory Pulmonary vascular resistance Respiratory upper & lower infection Acute & chronic airway obstruction Sleep apnea Cor pulmonale Flu and pneumovax vaccines

Gastrointestinal: 

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: 

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: 

Genitourinary Concerns UP junction obstruction Hydronephrosis Alteration in structure & maturation of kidneys High serum urea/creatinine/uric acid Hypospadius Undescended teste

Hematology: 

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: 

Immunologic Upper & lower respiratory infections T & B lymphocyte function Autoimmunity Thyroiditis, alopecia areata, arthritis, inflammatory bowel disease, diabetes

Ocular: 

Ocular Cataracts 3% Glaucoma Strabismus Nasolacrimal obstruction Blepharitis Keratoconus Refraction abnormalities

Ear, Nose & Throat: 

Ear, Nose & Throat Small ear canals Undeveloped ear ossicles Sinusitis & rhinitis Obstructive sleep apnea Hearing loss Tonsillectomy

Oral & Dental: 

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

Symptoms of Obstructive Apnea: 

Symptoms of Obstructive Apnea Snoring Unusual sleep routines Daytime fatigue Profuse sweating Behavior disturbances Treatment includes T&A, uvulopalatoplasty, or CPAP

Orthopedic: 

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: 

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: 

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

Infant Programs: 

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

Dermatology: 

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

Endocrine: 

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

Gynecology: 

Gynecology Pap smears in sexually active Non-sexually active bimanual exams Screening abdominal ultrasounds Mammograms

Reproduction: 

Reproduction Male sterility Female fertility Gynecological reproductive health clinics Birth control Sterilization

Neurologic: 

Neurologic Hypotonia Seizures Senile plaques & neurofibrillary tangles Alzheimer’s Disease

Alzheimer’s Disease A diagnosis of exclusion with a progressive functional decline: 

Alzheimer’s Disease A 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: 

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

Developmental: 

Developmental EI Programs ADHD Autistic Spectrum Disorder Alzheimer dementia

Psychiatric: Adolescents & Adults: 

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

Golden Rule: 

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: 

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.): 

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.): 

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: 

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: 

Alternative / Complementary Therapies Glutamic acid Dimethyl sulfoxide Sicca cell U-series 5-hydroxytryptophan Nutritional supplements

Alternative / Complementary Therapies (Cont.): 

Alternative / Complementary Therapies (Cont.) Megavitamins Piracetam Facilitated communication Patterning: Doman-Delacato Plastic Surgery